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Power, Jonathan D., Charles J. Lynch, Benjamin M. Silver, Marc J. Dubin, Alex Martin i Rebecca M. Jones. "Distinctions among real and apparent respiratory motions in human fMRI data". NeuroImage 201 (listopad 2019): 116041. http://dx.doi.org/10.1016/j.neuroimage.2019.116041.
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ÖCAL, Özlem, Dilek MENEKŞE i Nursan ÇINAR. "Nursing Care in A Child with Leigh Syndrome: A Case Report". Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi 11, nr 3 (27.09.2022): 1285–95. http://dx.doi.org/10.37989/gumussagbil.929175.
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Leigh syndrome which affects the central nervous system, is a rare inherited neurometabolic disorder. It usually occurs apparent in the first year of life. Patients with Leigh syndrome are at high risk for respiratory impairment, problems with growth and cognitive development, encephalopathy, hypotonia, spasticity, epilepsy and convulsion. The neurologic manifestations may begin in infancy or early childhood, progressively worsen, and eventually lead to death in early childhood. There is no specific treatment for the disease. Early detection of this life-threatening disease, prevention of possible complications, and evidence-based nursing care for clinical findings are the most important factors that increase the quality of life of patients. In this case, the nursing care of the baby diagnosed with Leigh syndrome is presented.
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Wahyuning, Caecilia Sri, Fitrah Tri Ramadhani, Dinda Syifa Rahmani i Antonius Tyaswidyono Moerti. "Study on Sleep Quality of Students in Regards with Cognitive Capabilities and Academic Achievement Post COVID-19 Pandemic". E3S Web of Conferences 484 (2024): 01009. http://dx.doi.org/10.1051/e3sconf/202448401009.
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A shift in lifestyle during COVID-19 pandemic affects daily conditions, including sleep condition. During pandemic, humans have plenty of time to rest by the virtue of eliminating commuting time for daily activities, therefore changing the sleeping pattern in society, including for students. Students from academic year 2020 are the first to experience online classes, but since Semester 1 of 2022/2023 academic year ITENAS are going back to normal, on-site class activities. This condition reverted the lifestyle shaped over the past two years, affecting cognitive function because one of the supporting factors of cognitive function is sleep quality. Data from ITENAS Academic Bureau showed 48% of students from 2020 suffered decline in GPA index during the first semester of 2022/2023 academic period. In this research the sleep quality of students will be studied using Pittsburgh Sleep Quality Index (PSQI), while cognitive capabilities will be observed through Cognitive Failure Questionnaire (CFQ) with special attention for student’s GPA index. From 97 students sampled for this research, there is an increase of students having bad sleeping quality at the start, during, and at the end of semester, with average percentage during all 3 periods at 89.69% of students with bad sleep quality. The number of students with high cognitive capabilities is increasing from the start, during, and after the end of semester, therefore there is no correlation between sleep quality and cognitive capabilities (p>0.05), as well as between sleep quality and academic achievement and between cognitive capabilities and academic achievement. Despite differences in sleep quality between students from Faculty of Industrial Engineering, Faculty of Civil Engineering and Planning, and Faculty of Architecture and Design, no apparent differences in cognitive capabilities and academic achievements to be observed.
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Reese, Thomas, Noa Segall, Paige Nesbitt, Guilherme Del Fiol, Rosalie Waller, Brekk C. Macpherson, Joseph E. Tonna i Melanie C. Wright. "Patient information organization in the intensive care setting: expert knowledge elicitation with card sorting methods". Journal of the American Medical Informatics Association 25, nr 8 (14.05.2018): 1026–35. http://dx.doi.org/10.1093/jamia/ocy045.
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Abstract Introduction Many electronic health records fail to support information uptake because they impose low-level information organization tasks on users. Clinical concept-oriented views have shown information processing improvements, but the specifics of this organization for critical care are unclear. Objective To determine high-level cognitive processes and patient information organization schema in critical care. Methods We conducted an open card sort of 29 patient data elements and a modified Delphi card sort of 65 patient data elements. Study participants were 39 clinicians with varied critical care training and experience. We analyzed the open sort with a hierarchical cluster analysis (HCA) and factor analysis (FA). The Delphi sort was split into three initiating groups that resulted in three unique solutions. We compared results between open sort analyses (HCA and FA), between card sorting exercises (open and Delphi), and across the Delphi solutions. Results Between the HCA and FA, we observed common constructs including cardiovascular and hemodynamics, infectious disease, medications, neurology, patient overview, respiratory, and vital signs. The more comprehensive Delphi sort solutions also included gastrointestinal, renal, and imaging constructs. Conclusions We identified primarily system-based groupings (e.g., cardiovascular, respiratory). Source-based (e.g., medications, laboratory) groups became apparent when participants were asked to sort a longer list of concepts. These results suggest a hybrid approach to information organization, which may combine systems, source, or problem-based groupings, best supports clinicians’ mental models. These results can contribute to the design of information displays to better support clinicians’ access and interpretation of information for critical care decisions.
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Suárez-Sánchez, Donají, Nereida Violeta Vega-Cabrera, Monserrat Fernández-Moya, Maribel Mendoza-Navarro, Ángel Bahena-Hernández, Jesús Fabian Rojas-Hernández, Librado Baños-Peña, Francisco Vladimir López-Méndez i Osmar Antonio Jaramillo-Morales. "Post-Coronavirus Disease 2019 Triggers the Appearance of Mixed Polyneuropathy and Brain Fog: A Case Report". Clinics and Practice 12, nr 3 (25.04.2022): 261–67. http://dx.doi.org/10.3390/clinpract12030031.
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Coronavirus disease 2019 (COVID-19) can directly or indirectly affect the central and peripheral nervous systems, resulting in cognitive impairment, memory problems, and a wide range of neuromuscular involvement, including neuropathies. However, the long-term neurological complications of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection are not clear. The aim this study was to analyze a case report the presence of neurological sequelae due to post-Coronavirus disease 19 in a patient without apparent previous neurological symptoms. Clinical case: A 46-year-old patient, with no relevant history for the described condition, who, after severe COVID-19 infection, started a mixed neuropathy and mental fog syndrome as the main sequel. Multiple laboratory and imaging studies were performed during and after his hospital stay, and it was corroborated by an electromyography that it occurred from a neuropathy triggered by COVID-19 infection. Conclusions: This case provides additional evidence that mixed neuropathy and brain fog syndrome are potential complications of post-coronavirus disease 2019 syndrome. The neurological sequelae that manifest after a COVID-19 episode can be rapidly enhanced as a consequence of another alteration in some systems of the organism. However, future studies are necessary to elucidate the incidence of these neurological complications, their pathophysiological mechanisms and their therapeutic options.
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Suárez-Sánchez, Donají, Nereida Violeta Vega-Cabrera, Monserrat Fernández-Moya, Maribel Mendoza-Navarro, Ángel Bahena-Hernández, Jesús Fabian Rojas-Hernández, Librado Baños-Peña, Francisco Vladimir López-Méndez i Osmar Antonio Jaramillo-Morales. "Post-Coronavirus Disease 2019 Triggers the Appearance of Mixed Polyneuropathy and Brain Fog: A Case Report". Clinics and Practice 12, nr 3 (25.04.2022): 261–67. http://dx.doi.org/10.3390/clinpract12030031.
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Coronavirus disease 2019 (COVID-19) can directly or indirectly affect the central and peripheral nervous systems, resulting in cognitive impairment, memory problems, and a wide range of neuromuscular involvement, including neuropathies. However, the long-term neurological complications of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection are not clear. The aim this study was to analyze a case report the presence of neurological sequelae due to post-Coronavirus disease 19 in a patient without apparent previous neurological symptoms. Clinical case: A 46-year-old patient, with no relevant history for the described condition, who, after severe COVID-19 infection, started a mixed neuropathy and mental fog syndrome as the main sequel. Multiple laboratory and imaging studies were performed during and after his hospital stay, and it was corroborated by an electromyography that it occurred from a neuropathy triggered by COVID-19 infection. Conclusions: This case provides additional evidence that mixed neuropathy and brain fog syndrome are potential complications of post-coronavirus disease 2019 syndrome. The neurological sequelae that manifest after a COVID-19 episode can be rapidly enhanced as a consequence of another alteration in some systems of the organism. However, future studies are necessary to elucidate the incidence of these neurological complications, their pathophysiological mechanisms and their therapeutic options.
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Hayder, Ali Mohammed, i Ahmed Hasan Tawfeeq. "Study the Effect of Using LPG in the Spark Ignition Engine Instead of Gasoline". NeuroQuantology 19, nr 6 (14.07.2021): 48–53. http://dx.doi.org/10.14704/nq.2021.19.6.nq21067.
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Apprehension on contamination carry on to collect a moral arrangement of world interest due to its opposing effect on mortal fitness beside to postponement the surroundings. Current trainings reportable the essential associations between contamination and inevitable syndromes as glowing as an occurrence, falsification, infection, chest throbbing, nausea, respiratory ailment in addition to carcinoma, acute strength properties symbolize eye frustration, headache. The global Health Organization (WHO) statuses that millions persons decease n every time with contamination. The board of this paper is focused on the production investigation totally diverse ratios of two types of coals: LPG (propane) with gasoline (petrol) below changed laedings. The rudiments laboring in the investigation covers 4stroke, spark detonation the TD200 Small Engine Investigation, Gas deconstruct part (Techno investigation (T156/D3)), Gas Movement Meter that processes the LPG. The coals, gasoline in a liter (liters) with LPG in a liter (liters) besides were castoff to assess their impressions on the consume gas production unrestricted. The consequences are apparent that particle numeral attentiveness, (CO) augmented due to the engine loading will rise in gasoline (coal). Consuming LPG, the (CO) attentiveness equal was a fewer, momentous decrease in deplete emanations, conversely extraordinary hotness in the location than coal (gasoline) on engine stocking. The engine, mechanical via LPG coal, presented amended engine presentation in numerous phases containing global efficiency, coal frugality besides emanation physical appearance that are importantly lower from gasoline coal.
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Johannknecht, Michelle, i Christoph Kayser. "The influence of the respiratory cycle on reaction times in sensory-cognitive paradigms". Scientific Reports 12, nr 1 (16.02.2022). http://dx.doi.org/10.1038/s41598-022-06364-8.
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AbstractBehavioural and electrophysiological studies point to an apparent influence of the state of respiration, i.e., whether we inhale or exhale, on brain activity and cognitive performance. Still, the prevalence and relevance of such respiratory-behavioural relations in typical sensory-cognitive tasks remain unclear. We here used a battery of six tasks probing sensory detection, discrimination and short-term memory to address the questions of whether and by how much behaviour covaries with the respiratory cycle. Our results show that participants tend to align their respiratory cycle to the experimental paradigm, in that they tend to inhale around stimulus presentation and exhale when submitting their responses. Furthermore, their reaction times, but not so much their response accuracy, consistently and significantly covary with the respiratory cycle, differing between inhalation and exhalation. This effect is strongest when analysed contingent on the respiratory state around participants’ responses. The respective effect sizes of these respiration-behaviour relations are comparable to those seen in other typical experimental manipulations in sensory-cognitive tasks, highlighting the relevance of these effects. Overall, our results support a prominent relation between respiration and sensory-cognitive function and show that sensation is intricately linked to rhythmic bodily or interoceptive functions.
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Garmoe, William, Kavitha Rao, Bethany Gorter i Rachel Kantor. "Neurocognitive Impairment in Post-COVID-19 Condition in Adults: Narrative Review of the Current Literature". Archives of Clinical Neuropsychology, 22.03.2024. http://dx.doi.org/10.1093/arclin/acae017.
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Abstract The severe acute respiratory syndrome coronavirus 2 virus has, up to the time of this article, resulted in >770 million cases of COVID-19 illness worldwide, and approximately 7 million deaths, including >1.1 million in the United States. Although defined as a respiratory virus, early in the pandemic, it became apparent that considerable numbers of people recovering from COVID-19 illness experienced persistence or new onset of multi-system health problems, including neurologic and cognitive and behavioral health concerns. Persistent multi-system health problems are defined as Post-COVID-19 Condition (PCC), Post-Acute Sequelae of COVID-19, or Long COVID. A significant number of those with PCC report cognitive problems. This paper reviews the current state of scientific knowledge on persisting cognitive symptoms in adults following COVID-19 illness. A brief history is provided of the emergence of concerns about persisting cognitive problems following COVID-19 illness and the definition of PCC. Methodologic factors that complicate clear understanding of PCC are reviewed. The review then examines research on patterns of cognitive impairment that have been found, factors that may contribute to increased risk, behavioral health variables, and interventions being used to ameliorate persisting symptoms. Finally, recommendations are made about ways neuropsychologists can improve the quality of existing research.
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Webber, Sandra C., Brenda J. Tittlemier i Hal J. Loewen. "Apparent Discordance between the Epidemiology of COVID-19 and Recommended Outcomes and Treatments: A Scoping Review". Physical Therapy, 21.06.2021. http://dx.doi.org/10.1093/ptj/pzab155.
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Abstract Objective Many survivors of COVID-19 experience ongoing signs and symptoms affecting multiple body systems that impair function and negatively affect participation and quality of life. The purpose of this review was to identify and synthesize outpatient rehabilitation assessment and treatment recommendations for adults in postacute COVID-19 stages. Methods MEDLINE (Ovid), EMBASE (Ovid), Central, CINAHL, and Scopus were searched from January 1, 2020, to December 7, 2020. Teams of 2 reviewers independently assessed study eligibility and extracted data. All study designs that included rehabilitation recommendations were included. Study design, country, study population, purpose, and rehabilitation recommendations were recorded. The Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument was used to evaluate the quality of consensus guidelines. Results Forty-eight articles fit the inclusion and exclusion criteria (11 systematic reviews, 1 scoping review, 6 original research studies, 4 consensus guidelines, 26 narrative reviews, and editorials/commentaries). Recommended outcomes included exercise tolerance, respiratory function, muscle strength, and activities of daily living (ADL) or functional independence. Recommended treatments included respiratory rehabilitation, exercise therapy, education, psychological support, ADL and gait training, traditional Chinese medicine, and cognitive and vocational rehabilitation. Conclusion There were incongruities between what is known about postacute COVID-19 and what was recommended in the literature. Given the relatively large proportion of survivors who experience ongoing symptomatic COVID-19 or post–COVID-19 syndrome, it is important to quickly develop tools for self-management and access to rehabilitation specialists in multidisciplinary teams. Impact Physical therapists, occupational therapists, and respiratory therapists have an important role to play. Clinicians should focus on epidemiological evidence and emerging information on late sequelae of COVID-19 to inform rehabilitation programming and future research.
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Bispo, Diógenes Diego de Carvalho, Pedro Renato de Paula Brandão, Danilo Assis Pereira, Fernando Bisinoto Maluf, Bruna Arrais Dias, Hugo Rafael Paranhos, Felipe von Glehn i in. "Brain microstructural changes and fatigue after COVID-19". Frontiers in Neurology 13 (10.11.2022). http://dx.doi.org/10.3389/fneur.2022.1029302.
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BackgroundFatigue and cognitive complaints are the most frequent persistent symptoms in patients after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This study aimed to assess fatigue and neuropsychological performance and investigate changes in the thickness and volume of gray matter (GM) and microstructural abnormalities in the white matter (WM) in a group of patients with mild-to-moderate coronavirus disease 2019 (COVID-19).MethodsWe studied 56 COVID-19 patients and 37 matched controls using magnetic resonance imaging (MRI). Cognition was assessed using Montreal Cognitive Assessment and Cambridge Neuropsychological Test Automated Battery, and fatigue was assessed using Chalder Fatigue Scale (CFQ-11). T1-weighted MRI was used to assess GM thickness and volume. Fiber-specific apparent fiber density (FD), free water index, and diffusion tensor imaging data were extracted using diffusion-weighted MRI (d-MRI). d-MRI data were correlated with clinical and cognitive measures using partial correlations and general linear modeling.ResultsCOVID-19 patients had mild-to-moderate acute illness (95% non-hospitalized). The average period between real-time quantitative reverse transcription polymerase chain reaction-based diagnosis and clinical/MRI assessments was 93.3 (±26.4) days. The COVID-19 group had higher total CFQ-11 scores than the control group (p < 0.001). There were no differences in neuropsychological performance between groups. The COVID-19 group had lower FD in the association, projection, and commissural tracts, but no change in GM. The corona radiata, corticospinal tract, corpus callosum, arcuate fasciculus, cingulate, fornix, inferior fronto-occipital fasciculus, inferior longitudinal fasciculus, superior longitudinal fasciculus, and uncinate fasciculus were involved. CFQ-11 scores, performance in reaction time, and visual memory tests correlated with microstructural changes in patients with COVID-19.ConclusionsQuantitative d-MRI detected changes in the WM microstructure of patients recovering from COVID-19. This study suggests a possible brain substrate underlying the symptoms caused by SARS-CoV-2 during medium- to long-term recovery.
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Martinez, Rebecca H., Kathleen D. Liu i J. Matthew Aldrich. "Overview of the Medical Management of the Critically Ill Patient". Clinical Journal of the American Society of Nephrology, 18.11.2022, CJN.07130622. http://dx.doi.org/10.2215/cjn.07130622.
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The medical management of the critically ill patient focuses predominantly on treatment of the underlying condition (e.g., sepsis or respiratory failure). However, in the past decade, the importance of initiating early prophylactic treatment for complications arising from care in the intensive care unit setting has become increasingly apparent. As survival from critical illness has improved, there is an increased prevalence of postintensive care syndrome—defined as a decline in physical, cognitive, or psychologic function among survivors of critical illness. The Intensive Care Unit Liberation Bundle, a major initiative of the Society of Critical Care Medicine, is centered on facilitating the return to normal function as early as possible, with the intent of minimizing iatrogenic harm during necessary critical care. These concepts are universally applicable to patients seen by nephrologists in the intensive care unit and may have particular relevance for patients with kidney failure either on dialysis or after kidney transplant. In this article, we will briefly summarize some known organ-based consequences associated with critical illness, review the components of the ABCDEF bundle (the conceptual framework for Intensive Care Unit Liberation), highlight the role nephrologists can play in implementing and complying with the ABCDEF bundle, and briefly discuss areas for additional research.
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Sprenger, Ryan, Phinea Romero, Andrea Ewald, Kaitlyn Marino, Maia Gumnit, Erin McCann, Tyler Ulland, Jyoti Watters i Tracy Baker. "Chemosensory deficits and increased apneas in the 5XFAD mouse model of Alzheimer's disease". Physiology 38, S1 (maj 2023). http://dx.doi.org/10.1152/physiol.2023.38.s1.5735203.
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Alzheimer’s disease (AD) is a neurodegenerative disease commonly associated with aging. Along with a decline in cognition and memory, individuals with AD often have respiratory disturbances such as sleep apnea, insufficient ventilation during sleep, and shortness of breath. Mechanisms underlying respiratory dysfunction in AD are unknown but may involve chemosensory deficits since at least one chemosensitive region, the locus coeruleus, undergoes significant neurodegeneration during AD progression in humans. To test the hypothesis that chemoreflexes are impaired in a mouse model of AD, we measured the hypoxic (HVR) and hypercapnic (HCVR) ventilatory responses using whole body plethysmography in 5XFAD mice as amyloid pathology progressed. We evaluated 2 timepoints of amyloid beta (Aß) pathology: early (4 months of age) and late (8 months of age). Compared to WT mice, 8-month-old male and female 5XFAD mice had a significantly reduced capacity to increase ventilation following challenge with 5% inspired CO2 (males: 5XFAD 99 ± 11% vs WT 168 ± 18%; females: 5XFAD 126 ± 12% vs. WT 212 ± 12%) or 5% inspired O2 (males: 5XFAD 141 ± 20% vs. WT 201 ± 20%; females: 5XFAD 75 ± 7.6% vs. WT 134 ± 12%). In addition, both male and female 5XFAD mice experienced significantly more apneic events (~120 apneas per/h) than their WT counterparts (~50 apneas/h) during presumptive sleep. Consistent with impaired ventilation, Aß plaques were abundant in medullary regions of the brainstem where both central chemosensors and rhythm generating neurons reside. Preliminary data suggest that chemoreflex dysfunction may emerge early in disease progression since a trend toward a reduced HCVR (5XFAD 133 ± 23% vs WT 206 ± 39%, combined sexes) was apparent in 4-month-old 5XFAD mice. Surprisingly, and contrary to findings at 8 months, preliminary data in 4-month-old 5XFAD mice indicate that the HVR may be slightly higher indicating that 5XFAD mice may be hypersensitive to hypoxia early in disease progression. Together, these data suggest that responses to ventilatory challenges become significantly disrupted by Aß pathology late in disease progression, deficits which may manifest early in disease and could promote disease progression. Results from our studies will identify the contributions of Aß deposition to respiratory dysfunction in 5XFAD mice, and may have implications for therapeutic interventions in individuals with AD. NIH R01 HL142752, HL142752S1, and T32 AG000213 This is the full abstract presented at the American Physiology Summit 2023 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.
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Hayes, Lawrence D., Joanne Ingram i Nicholas F. Sculthorpe. "More Than 100 Persistent Symptoms of SARS-CoV-2 (Long COVID): A Scoping Review". Frontiers in Medicine 8 (1.11.2021). http://dx.doi.org/10.3389/fmed.2021.750378.
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Background: Persistent coronavirus disease 2019 (COVID-19) symptoms are increasingly well-reported in cohort studies and case series. Given the spread of the pandemic, number of individuals suffering from persistent symptoms, termed ‘long COVID', are significant. However, type and prevalence of symptoms are not well reported using systematic literature reviews.Objectives: In this scoping review of the literature, we aggregated type and prevalence of symptoms in people with long COVID.Eligibility Criteria: Original investigations concerning the name and prevalence of symptoms were considered in participants ≥4-weeks post-infection.Sources of Evidence: Four electronic databases [Medline, Web of Science, Scopus, and the Cochrane Central Register of Controlled Trials (CENTRAL)] were searched.Methods: A scoping review was conducted using the Arksey and O'Malley framework. Review selection and characterisation was performed by three independent reviewers using pretested forms.Results: Authors reviewed 2,711 titles and abstracts for inclusion with 152 selected for full-text review. 102 articles were subsequently removed as this did not meet inclusion criteria. Thus, fifty studies were analysed, 34 of which were described as cohort studies or prospective cohort studies, 14 were described as cross-sectional studies, one was described as a case control study, and one was described as a retrospective observational study. In total, >100 symptoms were identified and there was considerable heterogeneity in symptom prevalence and setting of study. Ten studies reported cardiovascular symptoms, four examined pulmonary symptoms, 25 reported respiratory symptoms, 24 reported pain-related symptoms, 21 reported fatigue, 16 reported general infection symptoms, 10 reported symptoms of psychological disorders, nine reported cognitive impairment, 31 reported a sensory impairment, seven reported a dermatological complaint, 11 reported a functional impairment, and 18 reported a symptom which did not fit into any of the above categories.Conclusion: Most studies report symptoms analogous to those apparent in acute COVID-19 infection (i.e., sensory impairment and respiratory symptoms). Yet, our data suggest a larger spectrum of symptoms, evidenced by >100 reported symptoms. Symptom prevalence varied significantly and was not explained by data collection approaches, study design or other methodological approaches, and may be related to unknown cohort-specific factors.
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kumari, Reena, Richa Richa, Shashi Sharma, Lakshay Rana, Sadadiwala Shikha i Antan George. "Congenital CMV induced neonatal cholestasis: A case report". Journal of Clinical Images and Medical Case Reports 3, nr 3 (24.03.2022). http://dx.doi.org/10.52768/2766-7820/1754.
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Cholestatic jaundice in the neonatal period becomes difficult to diagnose because of complex and diverse etiology. The Index case was severe IUGR (intrauterine growth restriction), with a maternal history of infection and leaking per vaginum. The baby cried immediately at birth but was very low birth weight and short for gestation. Soon after birth, the baby developed respiratory distress and had poor activity. The baby was diagnosed of having hyaline membrane disease and early onset of neonatal sepsis and was managed appropriately. Later the baby developed conjugate neonatal hyperbilirubinemia and sepsis was taken as a cause of it and obstructive causes were ruled out. But the baby was not responding well to the treatment and the liver function test remained deranged, so is presented as a diagnostic challenge. The ultrasonography of the abdomen was normal. TORCH (Toxoplasma gondii, Other agents, Rubella, Cytomegalovirus) profile of the baby was sent which turned out to be positive for Cytomegalovirus (CMV). The viral load was high. Hence the baby was treated with Ganciclovir and the baby responded remarkably with the liver enzymes getting reverted to normal and viral load subsequently reduced to zilch. The infant started thriving well and no apparent associated neurological manifestations of the disease were seen in the baby. Currently, the baby is on regular follow-up. The difficulties experienced in the identification of CMV leading to delay in the management of the newborn as well as the positive outcome with Ganciclovir therapy are highlighted in this article. Our goal of reporting this case is to raise pediatricians’ and other stakeholders’ awareness of congenital CMV infection to ensure early detection and appropriate treatment of affected babies, with the ultimate goal of improving their prognosis and preventing the associated audiological and cognitive sequelae. Keywords: Cholestasis; Cytomegalovirus; Gancyclovir.
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Patni, Nivedita, Fisher G. Heather i Angela E. Scheuerle. "SAT-060 Unusual Case of Short Stature and Poor Growth in Childhood". Journal of the Endocrine Society 4, Supplement_1 (kwiecień 2020). http://dx.doi.org/10.1210/jendso/bvaa046.1356.
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Abstract Background: Néstor-Guillermo progeria syndrome (NGPS; OMIM 614008) is caused by biallelic pathogenic variants in BANF1 (barrier-to-autointegration factor 1) on chromosome 11q13. It characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudo-senile facial appearance, and normal cognitive development. Two adult patients have been reported. This is the first reported case of a child with NGPS who presented to endocrine clinic with failure to grow. Clinical Case: Two year, 8 month old Hispanic female born at 40 weeks gestation with birth weight 3.5 kg. At 1 year, she had short stature, poor weight gain, and thinning hair. There were no developmental concerns. Family history was remarkable for consanguinity. At presentation, her weight was 8.5 kilograms) and height 80 centimeters (both <1st percentile) and head circumference 45.5 centimeters (3rd percentile). Hair was sparse and fine with large areas of scalp alopecia. She had a small face with overhanging brow ridge, flattened midface, narrow nose, small mouth and bilateral lower eyelid ectropion. Fingers were shortened with thickened knuckles, widened fingertips, and distally set nails. Skin was tight throughout, particularly notable on the legs and hands with light discoloration of skin over the hand joints and reticulated dark macules over the lower abdomen. Her cardiac, respiratory, abdominal, genitourinary, neuro and joint examinations were unremarkable. Routine labwork was normal. Her bone age was normal at 2 year and 7 months but there was hypoplasia of the distal phalanges. Full skeletal survey revealed small mandible, thinning of the cranial vault, apparent crowding of the teeth, short stature, acroosteolysis-like changes involving the distal phalanges most evident in the hands, pointed distal phalanx of the great toes, and resorption of the distal clavicles. Her echocardiogram was normal. Sequencing and deletion/duplication analysis of LMNA was not diagnostic. Trio-based whole exome sequencing (WES) was performed after obtaining informed consent. WES revealed homozygosity for a pathogenic missense variant in BANF1 c.34G>A (p.Ala12Thr) inherited from each of the unaffected parents. Conclusion: Progeria syndromes are unusual but diagnosable causes of failure to grow and can be diagnosed based on clinical suspicion. This patient represents the first child reported with NGPS.
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Mascarenhas, L., R. Kohno, D. Mcdonald, S. Colburn i D. Benditt. "Quantitative autonomic testing after recovery from acute COVID-19 infection: comparison with findings in controls and individuals with neurogenic autonomic dysfunction". European Heart Journal 44, Supplement_2 (listopad 2023). http://dx.doi.org/10.1093/eurheartj/ehad655.594.
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Abstract Background/Introduction Cardiovascular autonomic dysfunction (CvAD) is believed to contribute to the persistence of troublesome symptoms following apparent recovery from an acute COVID-19 infection. Common complaints in this setting include cognitive impairment (‘brain fog’), fatigue, and both postural and exertional intolerance with a sensation of excessive rapid heart beating. However, while the occurrence of CvAD post-acute COVID-19 has been widely recognized, its quantitative assessment remains largely unexplored. Purpose The purpose of this study was to determine whether quantitative cardiovascular autonomic testing in post-acute COVID-19 patients differ from findings in Controls and are more similar to individuals with Neurogenic CvAD, such as those with Pure Autonomic Failure. Methods Quantitative autonomic testing was prospectively undertaken in two patient groups: post-acute COVID-19 and Neurogenic CvAD patients, and in control subjects. Acute COVID-19 was documented by the nasopharyngeal PCR method and all affected patients had recovered at least 1 week prior to their autonomic study. Neurogenic CvAD patients were studied as part of their diagnostic evaluation, and none had a COVID-19 infection prior to their study. Measurements included i) heart rate (HR) and blood pressure (BP) responses during active standing (AS), ii) time to BP nadir and time to BP recovery during AS, iii) Valsalva ratio (VR), and iv) respiratory sinus arrhythmia (RSA). The unpaired student t-test and Mann Whitney U test were used to analyze normally and non-normally distributed data, respectively, between post-acute COVID patients and the Control and Neurogenic CvAD patients. All variables were continuous and presented as means with corresponding standard deviations (SD) when normally distributed or interquartile ranges (IQR) when non-normally distributed. A p-value of <0.05 was considered statistically significant. Results Post-acute COVID-19 patients (N=55, 83.6% female) and Controls (N=82, 86.6% female) were of similar age (39 [IQR 27.3, 49.2] vs. 33 [IQR 21.4, 40.0] years, respectively, p=0.034). Neurogenic CvAD patients (N=27, 51.9% female) were older (68 [IQR 62.9, 74.3], p<0.00001). The main findings (Table 1, mean [SD]) indicate that post-acute COVID-19 patients exhibited HR and BP responses during AS similar to the Control group; on the other hand, average VR, maximum systolic BP drop during AS, and maximum HR increase during AS in COVID-19 patients trended towards findings in Neurogenic CvAD patients. Conclusion Recovered post-acute COVID-19 patients referred for autonomic dysfunction evaluation due to persisting symptoms exhibit autonomic testing findings similar to control subjects but trending towards observations in neurogenic CvAD.