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Dua, Dr Rohini, Dr Sanjana Arora, and Dr Heena Rani. "BLEEDING DISORDER." International Journal of Advanced Research 12, no. 09 (September 30, 2024): 426–40. http://dx.doi.org/10.21474/ijar01/19472.
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Blood is a form of connective tissue made up of two main components: Red blood cells, white blood cells, and platelets make up the fluid which is known as plasma and a cellular component. Disorders related to blood and bone marrow fall under hematopoietic system disorders. Bleeding disorders are conditions where blood does not clot correctly. Normally, platelets clump together to create a plug at the location of a blood vessel injury. Clotting factors, which are proteins found in the blood, collaborate to form a fibrin clot. This clot holds the platelets in place, assists with healing, and helps reduce blood loss.Hemorrhagic disorders can be either inherited or acquired and may result from issues like blood vessel abnormalities, deficiencies in clotting factors, or problems with platelets.
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Moalem, Kamilia N., Thomas J. Harrington, Maya Bloomberg, Gerald A. Soff, and Diana Marie Byrnes. "Impact of Inherited Bleeding Disorders on Peripartum Blood Loss: Insights from a Majority Hispanic Cohort Study." Blood 144, Supplement 1 (November 5, 2024): 7690. https://doi.org/10.1182/blood-2024-202488.
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Introduction: According to the World Health Organization, 25% of pregnancy related deaths were due to severe bleeding occurring in the postpartum period (Khan et al. 2006). Women with inherited bleeding disorders are known to have an increased risk of bleeding complications during delivery (Leebek et al. 2020; Peyvandi et al. 2011). There is a scarcity of published data on obstetric related outcomes in women with congenital bleeding disorders in the US, and even less information on minority ethnic subgroups. Herein we provide bleeding outcomes for a cohort of patients with inherited bleeding disorders, a majority of whom were Hispanic, compared to their age-matched control counterparts. Methods: 44 patients with bleeding disorders (52 deliveries) were identified at the University of Miami and Jackson Memorial Hospitals. Inclusion criteria included reproductive-age women pregnant from 2012-2024 with a clinician diagnosis of an inherited bleeding disorder (Von Willebrand Disease (VWD), or carrier of hemophilia A or B, or other factor deficiency. Patients were identified through pregnancy and bleeding disorder ICD codes, hematology consult notes, and identification by treating provider. Age-matched controls (n=104) were defined as any delivery by a pregnant woman without a history of bleeding disorder and identified using pregnancy ICD codes. All methods were approved by our institution's IRB. Analysis was performed using unpaired t-testing. Results: Of the 52 bleeding disorder deliveries, 36 had clinical diagnosis of VWD (11 with unspecified type, 12 with type 1, 2 with type 2 unspecified, 7 with type 2A, 1 with type 2B, 3 with type 2M), 7 were hemophilia A carriers, 6 hemophilia C /factor XI deficiency carriers, 1 factor VII deficiency carrier, 1 factor XIII deficiency carrier, and 1 platelet storage pool disorder. 104 age-matched controls deliveries were identified, with a 2:1 ratio per bleeding disorder delivery, 3 years within delivery of their counterparts. Of the 52 deliveries in the bleeding disorder group, 31 (59.6%) were Hispanic. Of the control group, 63 (60.6%) were Hispanic. In the bleeding disorder group of 52 deliveries, 24 (46.2%) were cesarean sections and 28 (53.8%) were vaginal deliveries. In the control group of 104 deliveries, 46 (44.2%) were cesarean sections and 58 (55.8%) were vaginal deliveries. Average initial hemoglobin (Hgb) for the bleeding disorder group was 11.8 +/- 1.0 g/dL and for the control group was 11.5 +/- 1.4 g/dL. The average Hgb drop (pre vs post-delivery) for the bleeding disorder group was 1.575 +/- 0.95 g/dL and the average Hgb drop for the control group was 1.26 +/- 0.90 g/dL (p = 0.046). Average EBL for the bleeding disorder group was 557.9 +/- 417.7 g/dL and for the control group was 483.85 +/- 296.2 g/dL, which was not statistically significant (p = 0.203). Subgroup analysis of VWD, hemophilias, and factor deficiencies showed only VWD had a significant Hgb drop, with an average of 1.69 +/- 1.00 g/dL (p = 0.025). EBL difference was unremarkable (p = 0.203). Of note, there was no significant difference in Hgb drop in factor deficiency carriers. Subgroup analysis of cesarean section in the bleeding disorder subjects showed a significant Hgb drop of 1.82 +/- 0.99 g/dL compared to 1.34 +/- 0.87 g/dL in controls who underwent cesarean section (p=0.040). EBL difference was similar, (p = 0.152). In subgroup analysis of Hispanic bleeding disorder subjects compared to non-Hispanic bleeding disorder subjects there was no significant difference in Hgb drop or EBL between the groups. Conclusions: Our bleeding disorder cohort consists of a majority of Hispanic patients. Subjects with VWD had objectively more blood loss with a larger Hgb drop than their age-match control counterparts. In addition, cesarean section had a more significant Hgb drop in bleeding disorder subjects than controls. EBL did not correlate with the more objective drop in Hgb and is not likely to be reliable. Underestimation of blood loss could have poor implications for management of bleeding and risk of further hemorrhage. It is important for clinicians to be aware of the risk of underestimation of bleeding in patients with inherited bleeding disorders, and further assess with corresponding clinical signs and lab values.
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Hussein, O. Kready, Mohammed Mohammed, Salem May, and Salim Al-Karwi* Abdullah. "SCREENING AND DIAGNOSIS OF BETA-THALASSEMIA DEPENDING ON HBA2 AND BLOOD FILM IN BAGHDAD CITY." World Journal of Pharmaceutical Science and Research 2, no. 6 (December 1, 2023): 91——98. https://doi.org/10.5281/zenodo.10935410.
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Background: Thalassemia is a group of inherited disorders that cause chronic anemia due to reduced or no production of hemoglobin. There are two types, α-thalassemia and β-thalassemia, based on genetic mutations and affected globin-chain subunits. Aim: This study in central Iraq aimed to increase awareness about different aspects of thalassemia and determine the prevalence, diagnosis, and trends of patients in Iraq based on blood film and HBA2%. Material and method: This retrospective study analyzed data from 53 thalassemia patients at Al-Kharama Teaching Hospital in Baghdad during 2020. The researchers examined complete blood counts and blood films for erythrocyte morphology and conducted HPLC analysis to measure HBA2%. They determined the beta-thalassemia types based on HBA2 percentage, complete blood count, blood film examination, and MCV/MCH rates. Data analysis was performed using SPSS version 26, and comparisons were made to evaluate the relationship between beta-thalassemia types and HBA2 percentages. Results: The study revealed that globally, thalassemia, particularly β-thalassemia, is the most prevalent genetic blood disorder, with a carrier population exceeding 150 million across 60+ countries. Among the 53 subjects in this study, incidence rates were as follows: β-thalassemia minor (64.2%), β-thalassemia intermedia (26.4%), and β-thalassemia major (9.4%). Comparable rates were observed in Missan Province, Iraq, as well as Lebanon and Pakistan. Factors such as consanguineous marriages, a lack of effective prevention programs, and poor legislation were identified as contributors to the high prevalence of thalassemia in Iraq. The study emphasizes the immediate need for a comprehensive preventive program involving carrier diagnosis, differentiation from iron-deficiency anemia, genetic counseling, prenatal diagnostics, and public education.
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Fedoseyeva, I. F., T. V. Poponnikova, and A. V. Veremeyev. "Noradrenaline state in children with a tic disorders." Bulletin of Siberian Medicine 8, no. 1(2) (February 28, 2009): 87–89. http://dx.doi.org/10.20538/1682-0363-2009-1(2)-87-89.
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The content of noradrenaline in blood serum in 28 children 6–16 years of age with tic disorder was analyzed. It was detected reliable descent the content of noradrenaline in blood serum of the children with a tic disorders compared the group of healthy children. Authors suppose that metabolism of noradrenaline takes part in pathogenesis of tic disorder, emotional and behavioral disorders.
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Godara, Amandeep, Nauman Siddiqui, Zarmina Khan, Ankit Kansagra, Jean Yared, and Saurabh Dahiya. "Blood and Blues: Prevalence of Mental Health Disorders in Patients Hospitalized with Acute Leukemia." Blood 132, Supplement 1 (November 29, 2018): 4871. http://dx.doi.org/10.1182/blood-2018-99-120239.
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Abstract Introduction: Approximately 1.5% of population will be diagnosed with leukemia in their lifetime (SEER Cancer Statistics Review). Diagnosis of acute leukemia has an overwhelming effect on the patient and their families. Besides the diagnosis, effect of chemotherapeutic agents and agony over the ultimate outcome can also affect emotional-behavioral wellbeing. Evolution of depression as a disorder, along the course of acute leukemia has been reported in the past (David et al Procedia Soc & Behav Sci 2014). We investigated the prevalence of mental health disorders in hospitalized patients admitted with acute leukemia diagnosis utilizing Healthcare Utilization Project National Inpatient Sample (HCUP NIS), 2002-2014. HCUP-NIS is the largest publicly available all-payer inpatient health care database in the United States, and is a 20% stratified sample of all hospital discharges. Methods: We identified hospitalizations for acute leukemia using ICD-9 codes (203.XX, 204.XX, 205.XX, 206.XX, 207.XX and 208.XX) in the NIS database. We included patients with a primary diagnosis of acute leukemia (myeloid, lymphoid and plasma cell leukemia) including admissions for inpatient chemotherapy and/or complications requiring hospitalization. Similarly, ICD-9 codes were used to identify patients with mental health disorders of interest (ADHD, adjustment disorder, alcohol abuse, anxiety disorder, mood disorders, personality disorders, schizophrenia, substance abuse, childhood disorders). "Surveyfreq" was used to calculate proportions while "Surveymeans" was used to calculate median length of stay and hospital charges. Cochran-Armitage test was used to analyze trends; Kruskal-Wallis test was used for non-parametric data. We used chi-square for categorical data frequency, P value of < 0.05 was considered statistically significant. All analysis was performed using SAS 9.4. Results: We identified a total of 59,223 patients with mental health disorders (18.4%) out of a total of 321223 hospitalizations for acute leukemia (table 1). Median age for patients with mental health disorders is 56 years. Mood disorder was most prevalent at 8% followed by anxiety disorder at 6%. Within all mental disorders, mood disorders comprised 44% of all cases followed by anxiety disorder at 32% (figure 1). Over 60% of mental health disorders were in patient age group above 50 years (figure 2). Prevalence of mental health disorders has increased from 10% to 28% between 2002 and 2014 (figure 3). Prevalence of anxiety disorder has increased 6 fold between 2002 (2%) and 2014 (12%). It is unclear if this change is due to an actual increase in the prevalence of this condition or better recognition of mental health disorders leading to better coding. Median length of stay (LOS) is significantly longer in patients with mental health disorders compared to those without (18 days vs 9 days respectively). Median charges for hospitalization are also significantly increased in patients with mental health disorders than those without ($119,245 vs $62,132 respectively). Conclusion: Mental health disorders are common in patients with acute leukemia. One in four patients (28%) in 2014 had a mental health disorder compared to 9% in 2002. Given the retrospective nature of our study, it is difficult to determine if this is an actual increase in the incidence and prevalence of mental health disorders or if better recognition and medical coding contributes to this finding. Our study shows a disproportionate burden of mental health disorders in patients above the age 50, which constitutes the majority of the patients diagnosed with acute leukemia. Use of mental health screening tools in this population could provide an avenue for recognition and possible early intervention. Given the retrospective nature of our study, these findings need to be validated in a prospective patient population. Disclosures No relevant conflicts of interest to declare.
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Khan, KausarRehman. "Thalassemia: Genetically transmitted blood disorder." Acta Medica International 2, no. 2 (2015): 195. http://dx.doi.org/10.5530/ami.2015.5.7.
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Zonda, Tamas, and David Lester. "Blood Type and Bipolar Disorder." Perceptual and Motor Skills 95, no. 3 (December 2002): 988. http://dx.doi.org/10.2466/pms.2002.95.3.988.
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SAITO, HIDEHIKO. "Blood coagulation disorder Thrombotic tendency." Nihon Naika Gakkai Zasshi 88, no. 9 (1999): 1668–78. http://dx.doi.org/10.2169/naika.88.1668.
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Coghlan, Andy. "Gene therapy cures blood disorder." New Scientist 207, no. 2778 (September 2010): 12. http://dx.doi.org/10.1016/s0262-4079(10)62249-x.
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Raghavan, C., and Arup K. Banerjee. "Myelodysplasia: an awkward blood disorder." International Journal of Clinical Practice 44, no. 11 (November 1990): 490–94. http://dx.doi.org/10.1111/j.1742-1241.1990.tb10066.x.
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Mahadevia, Himil, Lisa McCamy, Yahia Mohamed, An-Lin Cheng, Suman Suman, William Jennings, and Anuj Shrestha. "Incidence of Postoperative Venous Thromboembolism, Hemorrhage, and Infection in Patients with Bleeding Disorders after Hip and Knee Arthroplasty." Blood 142, Supplement 1 (November 28, 2023): 2617. http://dx.doi.org/10.1182/blood-2023-188286.
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Introduction: Patients undergoing hip or knee arthroplasty (HA or KA) developed asymptomatic postoperative (post-op) venous thromboembolism (VTE) in around 30% of cases without any pharmacologic thromboprophylaxis (ThPPx). The use of pharmacological ThPPx after HA or KA has reduced the incidence of post-op VTE within 90 days to around 0.6-1.5%. People with bleeding disorders tend to have chronic joint damage from recurrent hemarthroses and frequently require HA or KA. This was especially true in the era before chronic factor prophylaxis. The exact risk estimate of post-op VTE in this population is unclear. Furthermore, the exact risk benefit for pharmacologic ThPPx is also unknown. Methods: A retrospective cohort study was conducted by looking at patients who underwent HA or KA and stratifying them based upon whether they had bleeding disorder diagnosis. Data was collected from the Health Facts database, which contains de-identified information from the electronic medical records of all US hospitals in which Cerner© has a data use agreement. Patients with bleeding disorders included Hemophilia A, B, C and Von Willebrand disease. Incidence rates of post-op VTE, hemorrhage (Hge) and infection (Inf) were calculated and compared between patients with bleeding disorders and those without bleeding disorders regardless of pharmacologic ThPPx. The same outcomes were obtained and compared between patients with/without bleeding disorders who received ThPPx. Chi-square and Fischer exact test were used to determine statistical significance. Results: 333,584 patients underwent HA or KA. Out of these, 438 patients had bleeding disorder. The incidence rates of post-op VTE were 0.01% in patients with bleeding disorders vs 0.02% in those without (p=0.1850) regardless of ThPPx which was not statistically significant. The incidence rate of post-op Hge was higher in patients with bleeding disorders (0.01%) compared to patients without bleeding disorder (0.004%; p=0.0404). The difference in incidence rate of Inf was not statistically significant between the two groups (p=0.1768). Out of total patients, 202,936 patients who underwent KA or HA received ThPPx. The difference in incidence rates of VTE as well as Inf were not statistically significant between patients with and without bleeding disorders who received ThPPx (p=0.2357 for VTE and p=0.2519 for Inf). The incidence rate of post-op Hge in patients who received ThPPX and had bleeding disorder was 0.014% in contrast to 0.004% in patients without bleeding disorder, though, it did not reach statistical significance (p=0.0684). Conclusion: Patients with bleeding disorders have a similar risk of post-op VTE as the general population after HA or KA. Patients with bleeding disorders have higher post-op hemorrhagic complications. However, when comparing only those patients who received ThPPx, the difference in incidence of post-op Hge was not statistically significant. This implies that all patients including the ones with bleeding disorders, undergoing HA or KA may be treated with a similar ThPPx approach. Patients with bleeding disorders undergoing HA or KA do not have a higher predisposition to infections compared to the general population and may not require additional infection control measures. We did not look at the differences in factor treatment perioperatively which would have been standard for all bleeding disorder patients if they followed in a hemophilia treatment center. Our study limitation was its retrospective nature as well as all HA, KA, post-op VTE, Hge and Inf were identified by CPT and ICD codes.
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Means, Robert T. "Pure red cell aplasia." Blood 128, no. 21 (November 24, 2016): 2504–9. http://dx.doi.org/10.1182/blood-2016-05-717140.
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Abstract Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents. The therapeutic approach to PRCA typically involves immunosuppression, but specific pathogenic subtypes are associated with specific therapeutic approaches. Cyclosporine A, with or without concurrent corticosteroids, appears to be the single most effective immunosuppressive agent.
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Lucey, J. V., Durval C. Costa, Gwen Adshead, Martin P. Deahl, Geraldo Busatto, Sveto Gacinovic, Michael Travis, et al. "Brain blood flow in anxiety disorders." British Journal of Psychiatry 171, no. 4 (October 1997): 346–50. http://dx.doi.org/10.1192/bjp.171.4.346.
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BackgroundWe compared regional cerebral blood flow (rCBF) in three groups of patients with DSM–III–R anxiety disorders.MethodFifteen patients with obsessive–compulsive disorder (OCD), 15 with panic disorder with agoraphobia (PA), and 16 with post-traumatic stress disorder (PTSD) and a similar group of healthy controls were assessed on brain-dedicated high-resolution SPET.ResultsMANOVA revealed significant rCBF differences between diagnostic groups (F=4.4; d.f.=3, 57; P=0.007) and between cerebral regions (F=6.4; d.f.=1, 57; P=0.01) in OCD and PTSD compared with PA and healthy controls, limited to bilateral superior frontal cortices and right caudate nuclei. Whole brain blood flow correlated positively with anxiety (r=0.24, n=46, P=0.05). Beck depression scores correlated significantly negatively with left caudate rCBF (r= –0.24, n=46, P=0.05) and right caudate rCBF (r= –0.31, n=46, P=0.02). PTSD syndrome severity correlated significantly negatively with the left caudate (r=-0.49, n=16. P=0.03) and with right caudate rCBF (r=-0.7, n=16, P=0.001)ConclusionsFunctional rCBF differences in anxiety disorders could relate to repetitive, intrusive, distressing mental activity, prominent in both OCD and PTSD.
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Seregin, A. A., L. P. Smirnova, E. M. Dmitrieva, S. N. Vasil’eva, A. V. Semke, and S. A. Ivanova. "Glutamate Level’s in Blood Serum of Patients with Schisophrenic Spectrum and Bipolar Affective Disorder." Psikhiatriya 18, no. 3 (September 20, 2020): 22–31. http://dx.doi.org/10.30629/2618-6667-2020-18-3-22-31.
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The objective: the involvement of glutamatergic neurotransmitter systems in the pathogenesis of schizophrenic spectrum disorders and BD has been repeatedly proven. But today, there are no methods available to evaluate the glutamate metabolism in patients with mental disorders. The paper presents differences in the level of glutamate in the blood serum of patients with a schizophrenic spectrum disorder, bipolar disorder, and healthy individuals.Patients and methods: the study included 224 people. 179 patients were presented with paranoid schizophrenia, simple schizophrenia, schizotypal disorder, acute polymorphic disorder, schizoaffective disorder and BD.Results: in this work shows that the level of glutamate in patients in all studied groups is statistically significantly higher than in healthy individuals, except for acute polymorphic psychotic disorder. Serum glutamate concentration in patients with schizotypal disorder is 1.6 times higher than in healthy individuals. The significant differences in glutamate levels were detected in patients with schizotypal disorder and OCD (p = 0.045), and patients with paranoid schizophrenia (p = 0.012). The concentration of glutamate is also increased in patients with simple schizophrenia compared to patients with paranoid schizophrenia (p = 0.039). In addition, it was observed a glutamate increase in healthy individuals compared in patients with a continuous course of schizophrenia (p = 0.001), in patients with an episodic course with progressive deficit (p = 0.0211) and in patients with a schizophrenia duration of more than 12 years.Conclusions: thus, the concentrations of glutamate in the blood serum of patients are depending on the severity of the course of schizophrenia and maybe an additional paraclinical criterion for the diagnosis of schizotypal disorder.
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Olaiya, Oluwaseun, Zuri Hudson, Eryn Bilynsky, Hung-Wen Yeh, and Shannon L. Carpenter. "Bleeding Disorder Referrals to Hematology Clinic: A Single Institution Experience." Blood 136, Supplement 1 (November 5, 2020): 4–5. http://dx.doi.org/10.1182/blood-2020-140552.
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BACKGROUND Our tertiary care pediatric hematology/oncology/BMT service receives hundreds of referrals yearly for bleeding disorder evaluation both due to bleeding symptoms and secondary to routine preoperative laboratory testing prior to elective surgery. The evaluation for a bleeding disorder can be challenging due to the wide variability of symptoms as well as the need for accurate interpretation of lab results. In 2014, Bhasin et al., Pediatric Hematology and Oncology showed that 4% of patients referred to hematology based on a preoperative coagulation evaluation had a clinically relevant bleeding disorder. Currently there is little literature about the referral patterns to pediatric hematology and the outcomes of these referrals. OBJECTIVES To characterize our hematology referrals for bleeding disorder, work up To describe the diagnostic outcomes from these referrals To estimate the proportion of bleeding disorders diagnosed from these referrals To identify referral factors that are associated with being diagnosed with a bleeding disorder DESIGN/METHOD This is a single center, retrospective chart review. Patients referred and or seen for a bleeding disorder evaluation at Children's Mercy Hospital from 07/1/2018 until 06/30/19 were evaluated for demographics, reason for consultation, referring provider, and outcome of referral. Akaike Information Criterion (AIC) was applied to logistic regression to identify factors associated with diagnosis of bleeding disorder. RESULTS A total of 373 patients were included and demographics are detailed in Table 1. Forty patients were diagnosed with a bleeding disorder, 78 patients were lost to follow up or have work up still in progress, and 255 patients had a bleeding disorder ruled out. Of our referred patient sample, 6% (21/373) were diagnosed with von Willebrand disease, 4% (14/373) were diagnosed with a platelet function disorder, and 1.3% (5/373) were diagnosed with a coagulation factor deficiency. The median time between referral and appointment was 31.5 days with a median of 2 total visits including clinic and laboratory visit for a clinical diagnosis. Forty percent of referrals were for preoperative clearance, 36% for family history, and 57% for symptoms. Of the patients referred for symptoms, 22.7% were referred for bruising and 83.9% for bleeding. Thirty eight percent had previously been treated for symptoms through hormone management, nasal cauterization, surgical intervention, or other methods. Forty four percent (164/373) of the referrals were from Otolaryngology, 30% from primary care including adolescent medicine and gynecology, and 27% from other specialties. Seventy percent of referrals were internal from specialties within our institution. The results indicate that the odds of a bleeding disorder diagnosis decrease by 8% for every year increment in age and was 3 times higher among patients having abnormal coagulation labs at the time of referral as compared to their counterpart when other variables were controlled. Logistic regression model showing referral factors that could be associated with bleeding disorder diagnosis are detailed in table 3. CONCLUSION This study characterizes the bleeding disorder referral patterns at our institution including the proportion of bleeding disorders diagnosed. This study also highlighted certain referral factors such as age, gender, referral for preoperative clearance, previous treatment with nasal cauterization and the presence of abnormal lab values that could be predictive of the presence of a bleeding disorder. Limitations of this study include the small number of patients with confirmed diagnosis and that it is conducted at a single center. Additionally, at our center, referrals are screened by a physician prior to being seen, which could have influenced the results. We illustrate that large-scale studies are needed to determine referral factors associated with the diagnosis of a bleeding disorder. Disclosures Carpenter: American Academy of Pediatrics: Other: PREP Heme/Onc editorial board; Hemostasis & Thrombosis Research Society: Membership on an entity's Board of Directors or advisory committees; Shire: Research Funding; CSL Behring: Research Funding; American Thrombosis and Hemostasis Network: Membership on an entity's Board of Directors or advisory committees; Genentech, Inc.: Honoraria; Kedrion: Honoraria; Novo Nordisk: Honoraria.
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Koraishy, Farrukh M., Joanne Salas, Thomas C. Neylan, Beth E. Cohen, Paula P. Schnurr, Sean Clouston, and Jeffrey F. Scherrer. "Association of Severity of Posttraumatic Stress Disorder With Inflammation: Using Total White Blood Cell Count as a Marker." Chronic Stress 3 (January 2019): 247054701987765. http://dx.doi.org/10.1177/2470547019877651.
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Background Inflammation is known to be associated with posttraumatic stress disorder. It is not known if total white blood cell count, a routinely checked inflammatory marker, is associated with posttraumatic stress disorder symptom trajectories using medical record data. Methods We used latent class growth analysis to identify three-year posttraumatic stress disorder symptom trajectories using posttraumatic stress disorder (PTSD) Checklist (PCL) scores. The outcome for each patient was maximum white blood cell count from index posttraumatic stress disorder diagnosis to last PCL . Using linear regression analysis, we then calculated and compared the average white blood cell count for each trajectory before and after controlling for age, gender, race, obesity, smoking, diabetes, hypertension, cardiovascular disease, depression, and other comorbid inflammatory conditions. Results Patients were 40.2 (SD ± 13.5) years of age, 83.7% males and 67.9% white. We identified three PCL trajectory groups based on symptom severity over time: “moderate-large decrease,” “moderate-severe-slight decrease,” and “severe-persistent.” In adjusted analyses, “severe-persistent” versus “moderate-large decrease” had significantly higher white blood cell count (B = 0.64; 95%CI = 0.18, 1.09; p = .006). Although non-significant, “moderate-severe-slight decrease” versus “moderate-large decrease” also had a higher white blood cell count (B = 0.42; 95% CI: −0.02, 0.86; p = .061). Conclusion Persistently severe posttraumatic stress disorder is associated with a higher white blood cell count than improving posttraumatic stress disorder. White blood cell appears to have utility for measuring the association between psychiatric disorders and inflammation in retrospective cohort studies involving large administrative medical record data bases.
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Mohammed, Al-Momin, and Almomin Ammar. "A MATLAB model for diagnosing sickle cells and other blood abnormalities using image processing." International Journal of Electrical and Computer Engineering (IJECE) 11, no. 6 (December 1, 2021): 5060–65. https://doi.org/10.11591/ijece.v11i6.pp5060-5065.
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The conventional method for detecting blood abnormality is time consuming and lacks the high level of accuracy. In this paper a MATLAB based solution has been suggested to tackle the problem of time consumption and accuracy. Three types of blood abnormality have been covered here, namely, anemia which is characterized by low count of red blood cells (RBCs), Leukemia which is depicted by increasing the number of white blood cells (WBCs), and sickle cell blood disorder which is caused by a deformation in the shape of red cells. The algorithm has been tested on different images of blood smears and noticed to give an acceptable level of accuracy. Image processing techniques has been used here to detect the different types of blood constituents. Unlike many other researches, this research includes the blood sickling disorder which is epidemic in certain regions of the world, and offers a more accuracy than other algorithms through the use of detaching overlapped cells strategy.
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Romanenko, S. Yu, K. V. Vilchevska, I. O. Bakhchivandzhi, and Yu V. Martinenko. "A rare disorder of blood coagulation." Modern pediatrics. Ukraine, no. 6(126) (October 29, 2022): 97–100. http://dx.doi.org/10.15574/sp.2022.126.97.
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The problem of impaired hemostasis remains relevant even today. Rare bleeding disorders that cause life-threatening bleeding in patient are often overlooked by clinicians. Rare blood coagulation disorders are a genetically determined group of coagulopathies caused by a deficiency of blood plasma proteins involved in hemostasis, as well as a deficiency of fibrinogen, prothrombin, blood coagulation factor V (FV), blood coagulation factors V and VIII (FV+FVIII), blood coagulation factor VII (FVII), blood coagulation factor X (FX), blood coagulation factor XI (FXI), blood coagulation factor XII (FXII), blood coagulation factor XIII (FXIII), which are clinically are manifested by bleeding. The amount of the factor determines not only the nature of bleeding, but also their severity and prognosis for the disease. In such patients, the general hemostatic balance is important, since the level of each blood coagulation factor and the general control of hemostasis, which can determine the risk of bleeding, remain important. Purpose - to draw the attention of doctors of various specialties to the problem of clinical manifestations of rare hereditary disorders of blood coagulation, which can be accompanied by bleeding that poses a threat to the health and life of patient. Clinical case. A clinical case is presented that illustrates the course of a rare blood coagulation disorder in children from one family, where a comprehensive diagnostic search was conducted by doctors of various specialties to establish a final diagnosis. Conclusions. Rare blood coagulation disorders are a pathology that is not often found in the population, but clinical symptoms can have negative consequences for a person's health and life. Children with various manifestations of hemorrhagic syndrome need a thorough diagnostic examination in specialized laboratories. Physicians of related specialties should look for a possible rare deficiency of the coagulation factor in early and late complications in the postoperative period or after medical manipulations. It is necessary to remember the hereditary genesis of this pathology and examine all family members. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.
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Scully, Marie. "VITT-like disorder HITs the headlines." Blood 142, no. 26 (December 28, 2023): 2229–30. http://dx.doi.org/10.1182/blood.2023022900.
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Rubin, Rita. "New Treatment for Rare Blood Disorder." JAMA 326, no. 23 (December 21, 2021): 2354. http://dx.doi.org/10.1001/jama.2021.22226.
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WATANABE, AKIHARU. "Hepatic disorder caused by blood disease." Kanzo 38, no. 6 (1997): 345–48. http://dx.doi.org/10.2957/kanzo.38.345.
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Murphy, Michael, and Christopher Bass. "CEREBRAL BLOOD FLOW IN PANIC DISORDER." Lancet 332, no. 8618 (October 1988): 1027. http://dx.doi.org/10.1016/s0140-6736(88)90792-1.
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Elitzur, Sarah, Joanne Yacobovich, Orly Dgany, Tatyana Krasnov, Yoram Rosenbach, and Hannah Tamary. "From Blood Smear to Lipid Disorder." Journal of Pediatric Hematology/Oncology 35, no. 8 (November 2013): e329-e331. http://dx.doi.org/10.1097/mph.0b013e318271c915.
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Hvistendahl, M. "China Heads Off Deadly Blood Disorder." Science 340, no. 6133 (May 9, 2013): 677–78. http://dx.doi.org/10.1126/science.340.6133.677.
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Shrikant, Bhanudas Ovhar. "Study on the Prevalence of Acute and Chronic Leukemia at a Tertiary Care Teaching Hospital." International Journal of Pharmaceutical and Clinical Research 15, no. 12 (December 30, 2023): 1919–27. https://doi.org/10.5281/zenodo.11208889.
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<strong>Introduction: </strong>Acute and chronic leukemia have different progression rates and cell types. It starts with genetics and radiation. Incidence is greater in certain locations and among men. Disease knowledge in specialized healthcare improves resource allocation and patient care. Blood tests, marrow aspirations, and genetic studies are needed to diagnose leukemia. Molecular abnormality-specific therapy is promising yet difficult. In a complex healthcare system, leukemia research improves therapy, diagnosis, and patient outcomes. <strong>Aim and Objectives: </strong>To evaluate the prevalence of acute and chronic leukemia in a tertiary teaching hospital. <strong>Method: </strong>The retrospective research, conducted at pathology department in the medical college and hospital, during the period of one year, involved 120 recently diagnosed leukemia patients. Exclusion criteria excluded those undergoing cancer therapy or with other hematological cancers. Detailed medical history, hemodynamic parameters, and diagnostic procedures were meticulously documented. Inclusion criteria covered all age groups recently diagnosed with acute or chronic leukemia using FAB classification. <strong>Result: </strong>The study showed that the gender distribution among leukemia subtypes, highlighting notable disparities. Acute Lymphoblastic Leukemia (ALL) demonstrates a higher prevalence among males (75.00%), while Acute Myeloid Leukemia (AML) has a more balanced gender distribution (60% males, 40% females). Similarly, Chronic Lymphocytic Leukemia (CLL) and Chronic Myeloid Leukemia (CML) both exhibit a 60% male and 40% female distribution. Overall, males account for 66.66% of leukemia cases across subtypes, emphasizing gender-based variations in leukemia prevalence. The study also found that within ALL, the L1 subtype dominates (50%), followed by L2 and L3 (25% each). In AML, the M0 subtype is the most prevalent (40%), with M1 and M2 contributing 15% and 10%, respectively. The diverse distribution of subtypes underscores the complexity of leukemia. Notably, the M0 subtype stands out among AML cases. This detailed subtype analysis provides crucial insights for tailored treatment approaches. The study has shown that the age group 41 to 50 stands out with 13 cases, reflecting a balanced representation of leukemia types. This comprehensive age-wise breakdown informs understanding of leukemia prevalence across different life stages. <strong>Conclusion: </strong>The study has concluded that the prevalence of Acute Lymphoblastic Leukemia (ALL) being the most prominent (44.45%) and a higher prevalence among males across different leukemia subtypes.
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Vuk Pisk, S., K. Matic, E. Ivezic, N. Geres, and I. Filipcic. "comparisation of ABO blood groups between female patiens diagnosed with depressive disorders an bipolar affective disorders." European Psychiatry 65, S1 (June 2022): S851. http://dx.doi.org/10.1192/j.eurpsy.2022.2206.
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Introduction The prevalence of ABO alleles in population is different. Many studies confirmed the correlation between the occurrences of some diseases with different genotypes of ABO blood groups. Studies had shown possible differencese between patients with depressive dissorder and bipolar affective disorders according to ABO blood groups. There are contradictory results; some studies had shown significant association between blood group O and BAP, other showed relationship between unipolar depression and blood type O. Others shoedn association between involuntary depression and blood group A and negative association between blood group A and BAP. Objectives The purpose of this study was to reassess the potential diferences between patients with depressive dissorder and bipolar affective disorders according to ABO blood groups. Methods A total of 97 adult female psychiatric inpatients participated in this study. 57,7% were diagnosed with depressive disorder and 42,3% were diagnosed with bipolar affective disorder. Type of ABO group were measured from the blood samples taken in the morning after 30 min rest. From whole blood, genomic DNA was isolated on QIAcube device (Qiagen, Germany) using QIAamp DNA Blood mini QIAcube kit (Qiagen, Germany). ABO genotyping on 5 basic ABO alleles was performed using allele-specific PCR. Results Comparing ABO blood groups between female patients who are suffering from depressive disorders and bipolar affective disorders, we didn’t found any differences. In both examination groups, higher proportion of A blood group was significant. Conclusions The results of this study didn’t support the hypothesis of diferences in ABO blood group between depressive disorders and bipolar affective disorders. Disclosure No significant relationships.
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Charles, Chrystelle, Olena Bereznyakova, Gregory Jacquin, Jade Bergeron, Amer Yassine Hafsaoui, Valerie Fraile, Nancy Van Synghel, et al. "Baseline Neurological Morbidity Assessment in Adult Patients with Sickle Cell Disease : The Montreal Brain-SCD Cohort." Blood 144, Supplement 1 (November 5, 2024): 521. https://doi.org/10.1182/blood-2024-203020.
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Background Individuals with sickle cell disease (SCD) are at a high risk of symptomatic stroke, vascular brain lesions, and cognitive impairment. Although these neurovascular complications are well documented in children, data in contemporary cohorts of adults remain limited. In addition, the effect of disease modifying interventions on the outcome of neurovascular complications over the lifespan are unknown. Since 2021, a multidisciplinary neurology-hematology clinic has been established at the Centre Hospitalier de l'Université de Montréal (CHUM). The primary aim of this study is to describe the study entry prevalence of symptomatic stroke and of any cognitive impairment in the Montreal-Brain-SCD cohort. The secondary aim is to measure the effect of the specialized clinic on diagnosis of cognitive comorbidities. Methods This prospective study is conducted at the CHUM with the ultimate goal of creating a database of all patients followed as part of the Montréal-Brain-SCD cohort. We present the baseline characteristics at study inclusion. The local ethics committee approved the project and patients signed informed consent. Participants, aged ≥18 of all genotypes (HbSS, HbS β°/β+-thalassemia, HbSC), were included if they had ≥1 visit between September 2021 and June 2024. Symptomatic stroke was defined as any cerebral infarction or intracranial hemorrhage on brain imaging with a corresponding focal neurological deficit or symptomatology. The diagnosis of cognitive disorder (major and mild) was defined according to the International Society of Vascular Behavioral and Cognitive Disorders (VasCog). Attention disorder broadly included difficulties with attention and formal diagnosis of attention deficit disorder (ADD). Findings A total of 292 adults with SCD were included. The median age was 32 years (18-79), 167 (57%) were female. The genotype distribution was 142 (48%) individuals with the SS/Sβ0 genotype, 122 (42%) of the SC genotype, and 28 (10%) of the Sβ+. Overall, 182 patients (62%) received hydroxyurea treatment, while 58 (20%) were on chronic transfusions. Both therapies were administered concurrently to 17 patients (6%). Prior to the first assessment at the specialized clinic, the prevalences were: 12 patients (4%) had a confirmed history of prior stroke during their lifetime, 4 (1%) had a diagnosis of major cognitive disorder (MCD), none of mild cognitive disorder and 15 (5%) of ADD. After a first visit at the clinic, the number of confirmed cases of MCD increased significantly from 4 (1%) to 15 (5%) (Fisher exact test, p-value &lt;0.001), with one patient in whom the diagnosis was revised from MCD to intellectual deficiency. Mild cognitive disorder was diagnosed in 17 (6%). Before the assessment, attention disorder was diagnosed in 15 (5%). However, after further assessment, 8 diagnoses were retracted, with one modified to mild cognitive disorder, and 33 new diagnoses were made. As a result, a significantly higher proportion of patients had a diagnosis of attention disorder (40, 14%) (χ2 = 11.746, p-value &lt; 0.001). The prevalence of confirmed stroke increased with age, with 0/109 (0%) in the 18-29 age group, 3/89 (3%) in the 30-39 age group, 5/51 (10%) in the 40-49 age group, 2/31 (7%) in the 50-59 age group and 2/12 (17%) in the ≥60 age group. The prevalence of MCD also increased with age, with 9/280 (3%) in the 18-59 age groups and 6/12 (50%) in the ≥60 age group. However, the overall prevalence of attention disorder in the cohort decreased with age, with 18/109 (17%) in the 18-29 age group, 11/89 (12%) in the 30-39 age group, 9/51 (18%) in the 40-49 age group, 2/31 (7%) in the 50-59 age group and 0/12 (0%) in the ≥60 age group. Our analyses revealed a significant association between prior stroke and any diagnosis of cognitive disorder (Fisher exact test, p-value = 0.001). Interpretation This study carried out in an adult cohort of SCD patients revealed a high proportion of stroke and cognitive disorders. These results underline the need for a thorough neurological assessment in individuals with SCD, revealing an initial underdiagnosis of cognitive and attentional disorders. This highlights the neurocognitive vulnerability of this population, notably in those with a previous stroke. A prospective study of neurological complications affecting adult patients with SCD is ongoing.
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Halimeh, Susan, Hannelore Rott, Manuela Siebert, and Guenther Kappert. "Is a Pbac-Score a Good Tool to Quantify Menorrhagia in Women with Von Willebrand Disease and Rare Bleeding Disorders?" Blood 120, no. 21 (November 16, 2012): 1133. http://dx.doi.org/10.1182/blood.v120.21.1133.1133.
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Abstract Abstract 1133 Introduction: Von Willebrand disease (VWD) is the most common inherited bleeding disorder. VWD and other autosomal inherited bleeding disorders equally affect women and men. Menorrhagia or severe menstrual bleeding (HMB) is the most common symptom of women with bleeding disorders. HMB is defined as bleeding that lasts for more than seven days or as the loss of more than 80 mL of blood per menstrual cycle. The menstrual blood loss can be quantified by the use of a pictorial bleeding assessement chart (PBAC). Samples and methods: In 195 women with menorrhagia and in 45 controls menstrual blood loss was quantified using pictorial blood assesment charts (PBAC) and results were compared. Results: In 169 of 195 women (86%) a bleeding disorder could be detected. In those with a bleeding disorder, the distribution was as followed: 62% had a von Willebrand disease, 14,4% had a factor-VII-deficiency (F7D), 5% had a factor-XIII-deficiency (F13D) and the remaining 18,6% had other beedling disorders (e. g. hypofibrinogenaemia and other mild factor deficiencies). The median PBAC-Score of all patients was 268 (range: 10–4212). In our controi group of 45 women the median PBAC-Score was 46,5 (3- 137).ROC-Analysation shows that the PBAC (AUC=0.977) is much more useful than the number of bleeding days (AUC=0.855) in order to distingish controls from patients suffering from menorrhagia due to a coagulation disorder. We found that the best cutoff for the PBAC is 100 with an sensitifity of 88% and a specifity of 97%. Discussion: Attempts to measure the quantity of menstrual blood loss can be useful in clinic practice. One study found that variables predicting a blood loss higher than 80ml per menses were clots greater than one inch, low ferritin levels, or changing a pad or tampon more than hourly (flooding). A prospective method of quantifying menstrual blood loss includes the use of a pictorial bleeding assessement calendar (PBAC). We are of the opinion, that we would have detected more bleeding disorder also in the patients, where we did not find any diagnosis until now, if we would have controlled them more than one time during the cycle period. Conclusions: Women with hyermenorrhagia frequently suffer from a bleeding disorder, in 86% of our patients an abnormal coagulation was found. The PBAC-Score is an easy tool to quantify menstrual blood loss in women. In our study a PBAC-Score above 100 was suspicious of having a bleeding disorder. Disclosures: No relevant conflicts of interest to declare.
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Yektas, Cigdem, Ali Tufan, Onder Kilicaslan, Merve Yazici, Sumeyra Karakaya, and Enes Sarigedik. "Elevated Monocyte Levels Maybe a Common Peripheral Inflammatory Marker in Specific Learning Disorders and Attention Deficit/Hyperactivity Disorder." Psychiatry and Behavioral Sciences 12, no. 3 (2022): 125. http://dx.doi.org/10.5455/pbs.20210518080022.
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Aim: the primary aim of this study was to determine whether the neutrophil / lymphocyte ratio, mean platelet volume, monocyte/ lymphocyte ratio and distribution width of red blood cells are different in children with specific learning disorders compared to healthy controls. The second aim of the study is to investigate the relationships of those inflammatory markers with SLDs clinical severity. Methods: A total of 100 drug-naive participants, aged 7-12 years, who were newly diagnosed as having specific learning disorders according to the DSM-5 criteria were compared with a healthy control group of 75 age, sex matched children. the neutrophil / lymphocyte ratio, mean platelet volume, monocyte/ lymphocyte ratio and distribution width of red blood cells were measured according to the complete blood count. Results: specific learning disorders significantly affected monocyte levels and tended to affect monocyte/ lymphocyte ratio and neutrophil levels while attention deficit hyperactivity disorder diagnosis significantly affected monocyte levels and mean platelet volume and also tended to affect distribution width of red blood cells. Specific learning disorders symptom severity did not correlate significantly with peripheral inflammatory markers. Conclusions: This study is the first to investigate the effect of peripheral inflammatory markers in a large specific learning disorders sample by controlling attention deficit hyperactivity disorder comorbidity. The findings demonstrated that the monocyte levels are higher in both specific learning disorders and attention deficit hyperactivity disorder groups suggesting that elevated monocyte levels may be a common marker in the inflammatory pathophysiology.
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Moiz, Bushra, and Maria Shafiq. "Transient myeloproliferative disorder." Blood 120, no. 24 (December 6, 2012): 4672. http://dx.doi.org/10.1182/blood-2012-07-440917.
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Dominica, Dian, Silvia Naliani, Shelly Lelyana, and Ferry Sandra. "Biomarkers of Temporomandibular Disorders." SONDE (Sound of Dentistry) 3, no. 1 (July 14, 2019): 41–47. http://dx.doi.org/10.28932/sod.v3i1.1782.
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Temporomandibular disorder is a disorder that includes masticatory muscles or temporomandibular joints, unbalanced joint function or both. The disorders can disturb daily activity, cause by pain. The therapy consuming time and cost. Early detection of temporomandibular disorder is needed, as a prevention of more severe disorders. Increased cortisol can be found in myofacial pain and is not found in internal dearagement or osteoarthritis. Biomarkers of interleukin and monocyte chemoattractant proteins are only found in osteoarthritis. The use of biomarkers can be useful in detecting temporomandibular disorders. Biomarkers can be measured from blood, serum and saliva. Cortisol, dopamine and TAC are potential biomarkers in the temporomandibular disorder.
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Zorkina, Yana, Valeria Ushakova, Aleksandra Ochneva, Anna Tsurina, Olga Abramova, Valeria Savenkova, Anna Goncharova, et al. "Lipids in Psychiatric Disorders: Functional and Potential Diagnostic Role as Blood Biomarkers." Metabolites 14, no. 2 (January 23, 2024): 80. http://dx.doi.org/10.3390/metabo14020080.
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Lipids are a crucial component of the human brain, serving important structural and functional roles. They are involved in cell function, myelination of neuronal projections, neurotransmission, neural plasticity, energy metabolism, and neuroinflammation. Despite their significance, the role of lipids in the development of mental disorders has not been well understood. This review focused on the potential use of lipids as blood biomarkers for common mental illnesses, such as major depressive disorder, anxiety disorders, bipolar disorder, and schizophrenia. This review also discussed the impact of commonly used psychiatric medications, such as neuroleptics and antidepressants, on lipid metabolism. The obtained data suggested that lipid biomarkers could be useful for diagnosing psychiatric diseases, but further research is needed to better understand the associations between blood lipids and mental disorders and to identify specific biomarker combinations for each disease.
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Nair, Arun B. "Proportion of Raised Blood Pressure and Raised Blood Sugar Level in Newly Diagnosed Attention Deficit Hyperactivity Disorder in Children." Journal of Medical Science And clinical Research 05, no. 03 (May 23, 2017): 19260–66. http://dx.doi.org/10.18535/jmscr/v5i3.150.
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Lowe, David M. "Microbiota drives colitis in chronic granulomatous disorder." Blood 145, no. 18 (May 1, 2025): 1966–67. https://doi.org/10.1182/blood.2025028350.
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Litvitskiy, P. F. "Regional blood flow and microcirculation disorders." Regional blood circulation and microcirculation 19, no. 1 (April 6, 2020): 82–92. http://dx.doi.org/10.24884/1682-6655-2020-19-1-82-92.
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The lecture analyzes modern data on the types, etiology, key stages of pathogenesis, manifestations and consequences of typical forms of regional blood flow and microcirculation disorders. The lecturer dwells on typical forms of regional blood flow (in medium vessels): pathological arterial hyperemia, venous hyperemia, ischemia, and stasis. The variants of ischemia associated with increased arterial inflow to tissue or organ are considered as compared to medium-normal inflow. The lecture provides data on typical hemolymph microcirculation disorders, including intravascular, transmural, extravascular disorders, as well as capillary-trophic insufficiency as a final result of one or more microcirculatory disorders. The blood sludge phenomenon is characterized as a pathology of the blood aggregate state, which is either a cause or a consequence of a microhemocirculation disorder. The lecture is recommended for students, medical residents, post-graduate students, and trainees of the system of post-graduate professional education at medical universities.
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Sembai, Helena, Sulina Yanti Wibawa, Irda Handayani, and Darmawaty ER Rauf. "The Relationship between Blood Gas Analysis Profile and the Outcome of Severe COVID-19 Patients." INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY 29, no. 3 (July 27, 2023): 296–99. http://dx.doi.org/10.24293/ijcpml.v29i3.2017.
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Coronaviruses commonly infect the respiratory tract, leading to severe pneumonia. Respiratory problems cause numerous acid-base disorders in 2019 Coronavirus Disease (COVID-19) patients. Several studies have explored laboratory biomarkers used in the management and prognosis of COVID-19 patients during this pandemic; however, only a few focused on blood gas analysis. Determine the blood gas analysis pattern and its association with the outcome of severe COVID-19 patients treated in the Intensive Care Unit (ICU). This retrospective cohort study used secondary data from patients with severe COVID-19 treated in the ICU of Hasanuddin University Hospital between January and December 2021. There was a higher number of male (58.8%) compared to female patients (41.5%), with a mean age of 62 years. Respiratory alkalosis was the most prevalent blood gas disorder (24.4%). Metabolic alkalosis was a blood gas disorder with the highest number of recovery/improvement outcomes (8 patients). There was no significant relationship between blood gas analysis results and the outcome of severe COVID-19. In addition, no specific pattern was found in the results of blood gas analysis. Respiratory alkalosis was the most frequent blood gas disorder detected in these patients.
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Shinohara, Michi M., and Andrei Shustov. "How I treat primary cutaneous CD30+ lymphoproliferative disorders." Blood 134, no. 6 (August 8, 2019): 515–24. http://dx.doi.org/10.1182/blood.2019000785.
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Abstract The primary cutaneous CD30+ lymphoproliferative disorders are a family of extranodal lymphoid neoplasms that arise from mature postthymic T cells and localize to the skin. Current classification systems recognize lymphomatoid papulosis (LyP), primary cutaneous anaplastic large cell lymphoma, and borderline cases. In the majority of patients, the prognosis of primary cutaneous CD30+ lymphoproliferative disorders is excellent; however, relapses are common, and complete cures are rare. Skin-directed and systemic therapies are used as monotherapy or in combination to achieve the best disease control and minimize overall toxicity. We discuss 3 distinct presentations of primary cutaneous CD30+ lymphoproliferative disorder and present recommendations for a multidisciplinary team approach to diagnosis, evaluation, and management of these conditions in keeping with existing consensus guidelines.
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Wirgenes, Katrine Verena, Martin Tesli, Elin Inderhaug, Lavinia Athanasiu, Ingrid Agartz, Ingrid Melle, Timothy Hughes, Ole Andreas Andreassen, and Srdjan Djurovic. "ANK3 gene expression in bipolar disorder and schizophrenia." British Journal of Psychiatry 205, no. 3 (September 2014): 244–45. http://dx.doi.org/10.1192/bjp.bp.114.145433.
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SummaryANK3 gene variants have consistently been associated with bipolar spectrum disorder and schizophrenia spectrum disorder. However, the relevance of its encoded protein, ankyrin-3, in these disorders remains elusive. Here, we show that ANK3 gene expression in blood is significantly increased in bipolar disorder and schizophrenia compared with healthy controls. Additionally, we identified potential cis-acting expression quantitative trait loci located close to the transcription start site of one of the isoforms of the gene. These findings suggest that ANK3 mRNA is an interesting marker for further investigation of the underlying mechanisms in psychotic disorders.
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Sathi, Bindu Kanathezhath, Latha B. Rao, Terea Giannetta, Brenda Lopez, Sarah Saravia, Jason Carmichael, and Vinod V. Balasa. "Prevalence of Rare Bleeding Disorders in the Central California Cohort: A Retrospective Single Institution Analysis." Blood 142, Supplement 1 (November 28, 2023): 5488. http://dx.doi.org/10.1182/blood-2023-190315.
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Abstract Rare bleeding disorders (RBD) constitute 3- 5% of all inherited clotting factor deficiencies and include inherited deficiencies of fibrinogen (FI), factors II, V, VII, X, XI and XIII, and combined factor V and VIII, and affect both sexes in an autosomal recessive manner. Rare platelet disorders can also present with bleeding diathesis which are recessively inherited. Significant clinical heterogeneity is present in these disorders with varying bleeding symptomatology causing diagnostic and therapeutic challenges. The objective of this study was to analyze the prevalence, characteristics, and treatment of rare bleeding disorders at the Valley Children's Hemophilia Treatment Center(HTC) in Central California.We conducted a retrospective analysis of all individuals who were referred for abnormal bleeding to our institution from 2018- 2023. We analyzed the clinical features, laboratory variables, and treatment of patients identified with RBD. Rare platelet disorders were included in this study. We excluded factor VIII, IX deficiencies and Von Willebrand disease (VWD) from this analysis. Results We identified a total of 157 patients (age range 18 months-46 years old) with RBD, 46% were of female gender (Table 1). Majority of the patients (n=92, 58%) were of Hispanic ethnicity. Major RBD in the cohort was Factor 7 (F7) deficiency (n= 96, 60.4%). F11 deficiency constituted 10.1%, followed by fibrinogen deficiency (6.3%), and F13 deficiency (5.7%). F2 and Plasminogen activator inhibitor-1 (PAI-1) deficiency was identified in one individual each. Glanzmann thrombasthenia was the most common platelet disorder noted in our population (n=7, 4.4%), followed by giant platelet disorder (n=6, 3.8%). MYH9- related disorder was identified in 5 (3.1%) individuals with macrothrombocytopenia and bleeding. Wiskott-Aldrich Syndrome was detected in 3 (1.9%) cases of RBD. Combined bleeding disorders (CBDs) were observed in 15 individuals (9.5%) (Table 2). These disorders were distinguished by genotyping, factor activity, and chromogenic activity assays. F7 and Type 1 VWD combined disorder was observed in 46.7% (n=7) of these individuals. Genetic testing was done in 38% (n=60) of the affected individuals. Genetic analysis was done through American Thrombosis & Hemostasis Network (ATHN 10) in 19% (n=30). F7 gene mutation was the most commonly identified mutation and variants c.1238G&gt;A (p.Arg413Gln), c.1172G&gt;A (p.Arg353Gln), and c.1091G&gt;A (p.Arg364Gln) were observed in those with F7 deficiency. All individuals with F7 deficiency with variants of uncertain significance were presumed to be positive. Treatment was specific to the factor deficiency. Most individuals received additional anti-fibrinolytic therapy during acute bleeding episodes. Recombinant F7 was used in platelet disorders for bleeding. Major bleeding events and death in the cohort was 1.2% (n= 2), and 2 individuals with F13 deficiency developed inhibitors to F13 concentrate. These individuals have been managed with recombinant F7 and anti-fibrinolytic therapy. Conclusion Ethnically diverse distribution of rare bleeding disorders was evident in our Central California cohort. Similar to previous reports, F7 deficiency was of the highest prevalence. A high prevalence of CBDs was also observed in this cohort. Genetic testing enabled diagnosis in some complex cases and needs to be used more widely to facilitate timely and accurate identification, and treatment of CBDs, and RBD in general. Further, these results help to identify novel mutations in different ethnicities, and provide additional information in understanding the clinical impact of new mutations.
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Kirk, Kaylyn, Katharine Hooper, Ritika Vankina, and Swarup Kumar. "A Retrospective Review Assessing the Development of Myelodysplastic Syndromes in Patients with Plasma Cell Dyscrasias." Blood 142, Supplement 1 (November 28, 2023): 6499. http://dx.doi.org/10.1182/blood-2023-189099.
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Introduction Myelodysplastic syndrome (MDS) are hematopoietic disorders defined by dysplasia of the myeloid lineage accompanied by persistent cytopenias, and recurrent cytogenetic abnormalities (MDS). Whilst therapy related myeloid disorders in patients with Multiple Myeloma have been well described, there is lack of information regarding co-occurrence of these disease states in early plasma cell disorders as well as multiple myeloma at diagnosis which may also then allude to whether there is a founder effect to the clones. Recent advances in commercial sequencing assays of genomic data have allowed for identification of relevant gene mutations in patients with hematologic malignancies, such that the presence of these gene mutations have been incorporated into classification systems. In our study, we aimed to assess the occurrence of reported MDS in patients with plasma cell disorders i.e. Monoclonal Gammopathy of unknown significance (MGUS), Smoldering myeloma (SM) and Multiple myeloma (MM) as well as relevant gene mutations that would be implicated in the pathogenesis of MDS even in those patients who do not meet the full criteria for MDS (clonal hematopoiesis of indeterminate potential; CHIP mutations). Methods In this retrospective review, clinical and bone marrow based genomic data (Tempus xT ® 684 gene DNA-based NGS platform) was gathered on 57 patients with a diagnosis of MGUS, SM, and/or MM. Pathogenic gene mutations that are frequently associated with MDS were reported in our patient population. Bone marrow morphologic assessments for MDS related changes were also collected at the time of genomic data abstraction. Those patients who had defined MDS were further subclassified using the World Health Organization 2022 fifth edition classification system. Those observed as having subtle MDS findings on bone marrow biopsy, but with identified CHIP mutations, not meeting criteria for MDS, were also identified. Results Among 57 patients with MGUS (28), SM(9), and MM(20), 2 had met criteria for defined MDS at the time of their assessment. An additional 5 had bone marrow morphologic findings concerning for MDS, but did not meet criteria to be fully defined. A total of 14 myeloid disorder related pathogenic mutations were identified in our patient population (6 in MM at disease diagnosis, 7 in MGUS, and 1 in SM). Overall, the most frequently observed recurring mutations in the cohort were that of DNMT3A (57.1%, mean VAF 4.45%), TET2 (14.3%, mean VAF 4.0%), and SF3B1 (14.3%, mean VAF 39.2%). Patients with defined MDS had recurring pathogenic mutations in genes SF3B1, ASXL1 and DNMT3A. Discussion In our cohort, we identified several patients with features both diagnostic and suggestive of myeloid disorders (MDS) during work up for a plasma cell disorder, in particular MGUS, SM, and/or MM prior to therapeutic intervention. Molecular work up also identified gene mutation subsets in plasma cell disorder patients that have otherwise been implicated in the pathogenesis of myeloid disorders. The identification of both morphologic and molecular abnormalities in our cohort may inform therapeutic considerations as well as vigilance for the discovery or evolution of myeloid disorders during follow-up , in particular when unexpected cytopenias or new clinical concerns emerge. We expect to design future prospective studies, based on our observations, to further inform of the risk of myeloid disorders in our plasma cell disorder patient cohorts, as well as understand its impact on therapies such as immunomodulatory agents, alkylators and/or autologous stem cell transplant.
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Munir, Iqra, and Sidra Raza. "A Review on Red Blood Disorder: Thalassemia." JOURNAL OF MICROBIOLOGY AND MOLECULAR GENETICS 2, no. 2 (July 25, 2021): 1–8. http://dx.doi.org/10.52700/jmmg.v2i2.29.
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Thalassemia is classified as major (homozygous), minor (heterozygous) or intermedia (compound heterozygous). It’s diagnosed is based on hematological findings whereas molecular genetic analysis has also been gradually developed. Due to untreatable nature of thalassemia, it is important to adopt preventive measures. In this regard, the community awareness, carrier testing and genetic counselling are important milestones. Region-wise division of thalassemia mutations is diverse in distinct provinces. HBB: c.92+5G > C represents raised incidence in Balochistan and Sindh. HBB: c.27_28insG is most common in KPK and Punjab. Similarly, NG_000007.3: g.71609_72227del619 has its roots previously in India subsequently in Gujratis along with Memon community populating Sindh. Widespread family testing can employ DNA-based genomic analysis in areas where consanguine marriages are usual. An assessed carrier ratio for HBV (3-5%) along with (4-5%) for hepatitis C virus being found in Pakistan due to asymptomatic distribution. Bone marrow transplantation is the only solution to get rid from thalassemia major complications and this facility is accessible ever since 1999 in Pakistan.
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Morinobu, Shigeru, Katsuo Sagawa, Shinobu Kawakatsu, Shiro Totsuka, and Akio Komatani. "Regional Cerebral Blood Flow in Affective Disorder." Psychiatry and Clinical Neurosciences 46, no. 2 (June 1992): 570. http://dx.doi.org/10.1111/j.1440-1819.1992.tb00944.x.
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Nelson, Kathleen. "Rare blood disorder links kinases and cancer." Lancet Oncology 4, no. 5 (May 2003): 264. http://dx.doi.org/10.1016/s1470-2045(03)01064-7.
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Bolwig, T. G. "Regional cerebral blood flow in affective disorder." Acta Psychiatrica Scandinavica 87, S371 (May 1993): 48–53. http://dx.doi.org/10.1111/j.1600-0447.1993.tb05374.x.
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Aschenbrenner, Diane S. "New Drug Treats Rare Blood Clotting Disorder." AJN, American Journal of Nursing 119, no. 6 (June 2019): 24. http://dx.doi.org/10.1097/01.naj.0000559801.16738.00.
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Sancar, Feyza. "New Treatment for Rare Blood Clotting Disorder." JAMA 321, no. 11 (March 19, 2019): 1042. http://dx.doi.org/10.1001/jama.2019.1826.
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Boxer, Michael, and Alex E. Denes. "Combined Myeloid and Lymphoid Malignancies in 13 Elderly Patients." Blood 142, Supplement 1 (November 28, 2023): 6417. http://dx.doi.org/10.1182/blood-2023-174786.
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Disclosures Myeloid malignancies such as myelodysplasia (MDS) often evolve from age related clonal hematopoiesis (CH) with progression of variant allele frequencies. The Philadelphia negative myeloproliferative neoplasms (MPN) polythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) are associated with mutations in JAK2, CALR, or MPL. Multiple myeloma (MM) and monoclonal gammopathies (MGUS) are felt to be age related, and the malignant cell is of lymphoid origin. Burkitt's Lymphoma is associated with EBV exposure and dysregulation of c-myc. However the etiology of most lymphoproliferative disorders (LPD) is not defined, but immune dysregulation may be causative. The combination of myeloid and lymphoid malignancies are not recognized to be a common occurrence; however within a three year period 13 patients with combined myeloid and lymphoid malignancies were detected in a single community practice. DATA Five patients had combined myeloid and lymphoid malignancies diagnosed concurrently. Three had a lymphoid disorder and then developed a myeloid disorder. Five had a myeloid disorder followed by a lymphoid disorder. Three patients had multiple myeloma (MM) and two had MGUS. Initially all patients responded to standard therapies, One patient at 87 years died from end stage renal disease likely related to her myeloma. Another patient with CLL and PV died at 92 years from an epithelial malignancy. Concurrent diagnoses Age at diagnosis (years) CLL ET 76MGUS MDS 77MM MDS 78MM MDS (RSBA) 85 5) DLBCL MF. 60 LPD/MM followed by a Age at initial diagnosis (years) and time to second diagnosis myeloid disorder. 1) MZL MF 58 15 months 2) MM ET 83 7 months 3) CLL PV 86 4 years Myeloid disorder followed by a LPD/MGUS MDS DLBCL 76 3 monthsMDS MGUS 78 30 monthsTP CLL 15 60 yearsET MyF 77 65 monthsET CLL 60 15 years (CLL chronic lymphocytic leukemia, DLBCL diffuse large B cell lymphoma, MF myelofibrosis, MyF mycosis fungoides, MZL mantle zone lymphoma, RSBA ringed sideroblastic anemia, TP inherited thrombocytopenia) JAK2 mutations were found in three of the four ET patients and in the one PV patient. One MF patient and one ET patient were negative for the JAK2 and CALR mutations. The mutation status of the other MF patient was not known. At diagnosis the patient with inherited thrombocytopenia was suspected to have a myeloid disorder. Combined myeloid and lymphoid malignancies is not well defined and is a seemingly uncommon event. Yet an Italian study demonstrated that MPN patients with JAK2 mutations have a 2.8-3.4 fold increased risk of developing a LPD compared with an age matched population (1). The linkage is unclear. Immune senescence may be important for the development of LPD observed in the elderly. Also long term latency of many years between the JAK2V617F mutation acquisition and MPN presentation has been documented (2). The occurrence of both myeloid disorders and LPD is not well recognized. Future studies may provide insights into the mechanisms underlying these disorders. Increasing genetic complexity and immune senescence associated with aging likely plays a major role. The limitations of this study are its small size, single community investigator, retrospective clinical nature, and the lack of gene sequencing and other molecular studies in most if not all of the patients. This observation was noted over three years in a single community practice which strongly implies that combined occurrence may be more common than recognized and suggests that further investigation is warranted. Boxer none, Denes none References 1. Rumi E, Passamonti F, Elena C, et al. Increased risk of lymphoid neoplasm in patients with myeloproliferative neoplasm:a study of 1,915 patients. Haematologica. 2011;96(3):454-458. 2. Williams N, Lee J, Mitchell E, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature. 2022;602(7895):162-168.
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Edelmann, Susanne, Jeysri Balaji, Sarah Pasche, Ariane Wiegand, and Vanessa Nieratschker. "DNA Methylation of PXDN Is Associated with Early-Life Adversity in Adult Mental Disorders." Biomolecules 14, no. 8 (August 9, 2024): 976. http://dx.doi.org/10.3390/biom14080976.
Full textAbstract:
Early-life adversity (ELA) is characterized by exposure to traumatic events during early periods of life, particularly involving emotional, sexual and/or physical adversities during childhood. Mental disorders are strongly influenced by environmental and lifestyle-related risk factors including ELA. However, the molecular link between ELA and the risk of an adult mental disorder is still not fully understood. Evidence is emerging that long-lasting changes in the epigenetic processes regulating gene expression, such as DNA methylation, play an important role in the biological mechanisms linking ELA and mental disorders. Based on a recent study, we analyzed the DNA methylation of a specific CpG site within the gene PXDN—cg10888111—in blood in the context of ELA across a set of psychiatric disorders, namely Borderline Personality Disorder (BPD), Major Depressive Disorder (MDD) and Social Anxiety Disorder (SAD), and its potential contribution to their pathogenesis. We found significant hypermethylation in mentally ill patients with high levels of ELA compared to patients with low levels of ELA, whereas cg10888111 methylation in healthy control individuals was not affected by ELA. Further investigations revealed that this effect was driven by the MDD cohort. Providing a direct comparison of cg10888111 DNA methylation in blood in the context of ELA across three mental disorders, our results indicate the role of PXDN regulation in the response to ELA in the pathogenesis of mental disorders, especially MDD. Further studies will be needed to validate these results and decipher the corresponding biological network that is involved in the transmission of ELA to an adult mental disorder in general.
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Gowda, Sunil N., Sumit Chandak, Vishal Sawant, and Amit Kulkarni. "Comparison of neurocognitive deficit among euthymic bipolar I disorder patients, their first-degree relatives and healthy controls." International Journal of Advances in Medicine 4, no. 3 (May 23, 2017): 656. http://dx.doi.org/10.18203/2349-3933.ijam20171513.
Full textAbstract:
Background: Bipolar patients often suffer from debilitating cognitive impairment in different stages of the disease (manic, depressive or euthymic states). We assessed and compared the frequency of neurocognitive deficit among individual with bipolar I disorder but currently in euthymic state, their first-degree blood relatives and healthy controls. In addition, we also probed further into the type of neurocognitive deficit that can be seen among them and observed the influence of sociodemographic characteristics with the occurrence of neurocognitive deficit in individual with bipolar I disorder patient.Methods: Patients (N=30) who fulfilled the diagnostic and statistical manual of mental disorders, fourth edition (DSM-IV TR) criteria for bipolar I disorder but currently in remission were assessed for any neurological deficits using the standard instruments. In this study, 30 first-degree blood relatives of bipolar I disorder patients and selected 30 hospital staff as healthy controls were also assessed for neurological deficits.Results: We did not find any significant frontal dysfunction among first-degree blood relatives of bipolar I disorder patient when compared with euthymic bipolar I disorder patients. Factor that significantly affected neurocognitive performance in the bipolar patients who were in euthymic state included age, total duration of illness and number of manic episode.Conclusions: As neurocognitive impairment is associated with number of manic episode and total duration of illness; the objective of treatment should be to prolong remission and impart psychoeducation regarding nature of illness. On the contrary, anticipating definite cognitive impairment in first-degree blood relatives of bipolar I disorder patient when compared to healthy control warrants periodic neurocognitive testing and psychoeducation about deficit and medical intervention, if required.
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Patrone, Deanira, Nicola Alessio, Nicola Antonucci, Anna Lisa Brigida, Gianfranco Peluso, Umberto Galderisi, and Dario Siniscalco. "Optimization of Peripheral Blood Mononuclear Cell Extraction from Small Volume of Blood Samples: Potential Implications for Children-Related Diseases." Methods and Protocols 5, no. 2 (February 24, 2022): 20. http://dx.doi.org/10.3390/mps5020020.
Full textAbstract:
Managing medical procedures for children with problematic disorders is a challenging approach, especially in the case of blood withdrawal for autism spectrum disorder-affected children. Peripheral blood mononuclear cells (PBMC) represent an important cellular model to study immune responses and drug toxicity. The monocytic cells, a fraction of PBMC, are strongly involved in some pathophysiological processes, such as inflammation and immune system changes. Here, we propose a simple, reliable protocol for obtaining peripheral blood-derived mononuclear cells from small volumes of blood samples.