Se connecter

Bibliographies thématiques / Familial sarcoidosis / Articles de revues

Pour voir les autres types de publications sur ce sujet consultez le lien suivant : Familial sarcoidosis.

Articles de revues sur le sujet « Familial sarcoidosis »

Auteur : Grafiati

Publié le 7 juin 2025

Mis à jour le 2 août 2025

Créez une référence correcte selon les styles APA, MLA, Chicago, Harvard et plusieurs autres

Choisissez une source :

Consultez les 50 meilleurs articles de revues pour votre recherche sur le sujet « Familial sarcoidosis ».

À côté de chaque source dans la liste de références il y a un bouton « Ajouter à la bibliographie ». Cliquez sur ce bouton, et nous générerons automatiquement la référence bibliographique pour la source choisie selon votre style de citation préféré : APA, MLA, Harvard, Vancouver, Chicago, etc.

Vous pouvez aussi télécharger le texte intégral de la publication scolaire au format pdf et consulter son résumé en ligne lorsque ces informations sont inclues dans les métadonnées.

Parcourez les articles de revues sur diverses disciplines et organisez correctement votre bibliographie.

1

RYBICKI, BENJAMIN A, MICHAEL C IANNUZZI, MARGARET M FREDERICK, et al. "Familial Aggregation of Sarcoidosis." American Journal of Respiratory and Critical Care Medicine 164, no. 11 (2001): 2085–91. http://dx.doi.org/10.1164/ajrccm.164.11.2106001.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

2

Perng, Reury-Perng, Kun-Ta Chou, Hsi Chu, and Yu-Mei Chung. "Familial Sarcoidosis in Taiwan." Journal of the Formosan Medical Association 106, no. 6 (2007): 499–503. http://dx.doi.org/10.1016/s0929-6646(09)60301-6.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

3

M., Bouwe Abdou, Cheikhna M., Oubah I., et al. "Pancytopenia Revealing Medullary Granulomatosis : An Unexpected Diagnosis of Systemic Familial Sarcoidosis." International Journal of Clinical Science and Medical Research 05, no. 05 (2025): 106–9. https://doi.org/10.5281/zenodo.15355821.

Texte intégral

Résumé :

Abstract Sarcoidosis is a granulomatous disease of unknown origin, characterized by highly variable clinical presentations. Diagnosis is based on compatible clinical features, the presence of non-caseating granulomas on biopsy, and the exclusion of other causes of granulomatous diseases. Extrapulmonary involvement is rare, particularly bone marrow involvement, which is usually observed in the context of systemic sarcoidosis. Bone marrow sarcoidosis is extremely rare. Familial forms are also uncommon, accounting for less than 5% of cases. This article reports a case of medullary sarcoidosis rev

Styles APA, Harvard, Vancouver, ISO, etc.

4

Rybicki, Benjamin A., Doug Harrington, Marcie Major, et al. "Heterogeneity of familial risk in sarcoidosis." Genetic Epidemiology 13, no. 1 (1996): 23–33. http://dx.doi.org/10.1002/(sici)1098-2272(1996)13:1<23::aid-gepi3>3.0.co;2-7.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

5

Uhm, Wan Sik, Chae Man Lim, Woo Sung Kim, Dong Soon Kim, and Won Dong Kim. "Familial Sarcoidosis, The First Report in Korea." Tuberculosis and Respiratory Diseases 41, no. 6 (1994): 644. http://dx.doi.org/10.4046/trd.1994.41.6.644.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

6

McGrath, D. S. "Epidemiology of familial sarcoidosis in the UK." Thorax 55, no. 9 (2000): 751–54. http://dx.doi.org/10.1136/thorax.55.9.751.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

7

Fité, E., J. Maña, J. M. Alsina, and J. Morera. "Sarcoidosis: Chest Radiograph Screening of Familial Contacts." Respiration 63, no. 3 (1996): 160–63. http://dx.doi.org/10.1159/000196537.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

8

Semiz, Hüseyin, and Senol Kobak. "Coexistence of sarcoidosis and Familial Mediterranean Fever." Reumatología Clínica 13, no. 4 (2017): 221–23. http://dx.doi.org/10.1016/j.reuma.2016.05.001.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

9

Semiz, Hüseyin, and Senol Kobak. "Coexistence of sarcoidosis and Familial Mediterranean Fever." Reumatología Clínica (English Edition) 13, no. 4 (2017): 221–23. http://dx.doi.org/10.1016/j.reumae.2016.05.009.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

10

Pacheco, Yves, Dominique Valeyre, Thomas El Jammal, et al. "Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses." Cells 10, no. 8 (2021): 1995. http://dx.doi.org/10.3390/cells10081995.

Texte intégral

Résumé :

Sarcoidosis is a multisystem disease characterized by the development and accumulation of granulomas, the hallmark of an inflammatory process induced by environmental and/or infectious and or genetic factors. This auto-inflammatory disease mainly affects the lungs, the gateway to environmental aggressions and viral infections. We have shown previously that genetic predisposition to sarcoidosis occurring in familial cases is related to a large spectrum of pathogenic variants with, however, a clustering around mTOR (mammalian Target Of Rapamycin)-related pathways and autophagy regulation. The co

Styles APA, Harvard, Vancouver, ISO, etc.

11

Duman, Dildar, Tulin Sevim, Lale Sertcelik, et al. "Familial Sarcoidosis: An Analysis of Twenty-Eight Cases." Eurasian Journal of Pulmonology 18, no. 3 (2017): 143–47. http://dx.doi.org/10.5152/ejp.2016.28863.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

12

Möller, ERNA, EVA Hedfors, and L.-G. Wiman. "HL-A Genotypes and MLR in Familial Sarcoidosis." Tissue Antigens 4, no. 3 (2008): 299–305. http://dx.doi.org/10.1111/j.1399-0039.1974.tb00256.x.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

13

Pastor, E., J. M. Arriero, A. I. Gutierrez, et al. "Renal failure as first manifestation of familial sarcoidosis." European Respiratory Journal 36, no. 6 (2010): 1485–87. http://dx.doi.org/10.1183/09031936.00077710.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

14

Frolkova, N. V., E. O. Koksharova, P. A. Vasiluev, O. M. Smirnova, and M. V. Shestakova. "Combination of familial partial lipodystrophy (Dunnigan-Cobberling syndrome) with pulmonary sarcoidosis." Diabetes mellitus 27, no. 3 (2024): 287–94. http://dx.doi.org/10.14341/dm13102.

Texte intégral

Résumé :

Lipodystrophy syndromes are a heterogeneous group of extremely rare, inherited or acquired disorders that are characterized by total or partial fat loss or its improper redistribution. The prevalence of lipodystrophies is estimated to be 1:1,000,000 in the population, with approximately 1,000 cases currently described in the literature.Sarcoidosis is a multisystem disease of unknown etiology that is characterized by the formation of non-caseating epithelioid granulomas in the affected tissues. Despite the large number of studies, the etiology and pathogenesis of sarcoidosis still remain unknow

Styles APA, Harvard, Vancouver, ISO, etc.

15

Skodric-Trifunovic, Vesna, Violeta Vucinic, Sanja Simic-Ogrizovic, et al. "Mystery called sarcoidosis: Forty-four years follow-up of chronic systemic disease." Srpski arhiv za celokupno lekarstvo 140, no. 11-12 (2012): 768–71. http://dx.doi.org/10.2298/sarh1212768s.

Texte intégral

Résumé :

Introduction. This is a presentation of a 61-year-old female patient. Since 44 years have passed from the onset of her first symptoms until the final diagnosis of sarcoidosis, this was the reason of our decision to publish the case. Case Outline. During the follow-up period of 44 years the patient had ocassional polymorphic complains, such as adynamia, nausea, abdominal pains, myalgia, arthralgia, body weight loss (8-10 kg) etc. The clinical course was predominated by splenomegaly, hepatitis and arthralgia, and later chronic renal failure also developed. Laboratory findings showed elevated mar

Styles APA, Harvard, Vancouver, ISO, etc.

16

Akyildiz, Ekin, and Senol Kobak. "Familial sarcoidosis: Report of a mother and her son." European Journal of Rheumatology 4, no. 4 (2017): 284–87. http://dx.doi.org/10.5152/eurjrheum.2017.17029.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

17

Terwiel, Michelle, and Coline H. M. van Moorsel. "Clinical epidemiology of familial sarcoidosis: A systematic literature review." Respiratory Medicine 149 (March 2019): 36–41. http://dx.doi.org/10.1016/j.rmed.2018.11.022.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

18

Schürmann, M., G. Bein, D. Kirsten, M. Schlaak, J. Müller-Quernheim, and E. Schwinger. "HLA-DQB1 and HLA-DPB1 genotypes in familial sarcoidosis." Respiratory Medicine 92, no. 4 (1998): 649–52. http://dx.doi.org/10.1016/s0954-6111(98)90512-1.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

19

Blank, Norbert, Regina Max, Frank Autschbach, Martin Libicher, and Hanns-Martin Lorenz. "Familial early onset sarcoidosis with bone cysts and erosions." Skeletal Radiology 36, no. 9 (2007): 891–93. http://dx.doi.org/10.1007/s00256-007-0315-5.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

20

Brown, Roxxy, Sharon Macrohon-Sabaitue, Mark Specterman, and Angeliki Asimaki. "Multisystemic, Possibly Familial Sarcoidosis Ameliorated by an mTOR Inhibitor." JACC: Case Reports 30, no. 14 (2025): 103633. https://doi.org/10.1016/j.jaccas.2025.103633.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

21

Salonen, Johanna, and Riitta Kaarteenaho. "National retrospective registry survey on the epidemiology of sarcoidosis in Finland 2002−2022." BMJ Open Respiratory Research 11, no. 1 (2024): e002461. http://dx.doi.org/10.1136/bmjresp-2024-002461.

Texte intégral

Résumé :

BackgroundThe prevalence of sarcoidosis is known to be high in the Nordic countries. There are no recent research data on the incidence or prevalence of sarcoidosis in Finland. Our aim was to investigate the epidemiology of sarcoidosis in Finland through a retrospective registry-based study.MethodsWe made an information request to the Hilmo database on patients who had been treated in Finnish specialised care with a main diagnosis related to sarcoidosis. Data were requested for the period 1 January−31 December for the years 2002, 2012 and 2022. In addition, we examined the age and gender distr

Styles APA, Harvard, Vancouver, ISO, etc.

22

SCHÜRMANN, MANFRED, PENNY A LYMPANY, PHILIPP REICHEL, et al. "Familial Sarcoidosis Is Linked to the Major Histocompatibility Complex Region." American Journal of Respiratory and Critical Care Medicine 162, no. 3 (2000): 861–64. http://dx.doi.org/10.1164/ajrccm.162.3.9901099.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

23

PIETINALHO, A., M. OHMICHI, M. HIRASAWA, Y. HIRAGA, A.-B. LÖFROOS, and O. SELROOS. "Familial sarcoidosis in Finland and Hokkaido, Japan–a comparative study." Respiratory Medicine 93, no. 6 (1999): 408–12. http://dx.doi.org/10.1053/rmed.1999.0579.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

24

Thomeer, Michiel, and Kondwelani Mateyo. "Sarcoidosis around the Globe." Seminars in Respiratory and Critical Care Medicine 38, no. 04 (2017): 393–403. http://dx.doi.org/10.1055/s-0037-1602845.

Texte intégral

Résumé :

AbstractDespite sarcoidosis having a worldwide occurrence, the epidemiological map still has gaps. Prevalence and incidence rates-inconsistences have been mainly due to a lack of uniformity in study definitions as well as data collection methods. Nonetheless, studies have been consistent in showing high prevalence and incidence in Scandinavian and African American populations. Data from racially diverse populations have consistently revealed highest incidence in people of African descent. Within populations, geographical (north-to-south gradient) and time clusters have also been demonstrated f

Styles APA, Harvard, Vancouver, ISO, etc.

25

Aritake, Hidemi, Koji Murakami, Tsutomu Tamada, et al. "A Case of TINU Syndrome Difficult to Differentiate from Familial Sarcoidosis." Japanese Journal of Sarcoidosis and Other Granulomatous Disorders 38, no. 1_2 (2018): 89–93. http://dx.doi.org/10.7878/jjsogd.38.1_2_89.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

26

Bambery, P., U. Kaur, S. R. Bhusnurmath, and J. B. Dilawari. "Familial idiopathic granulomatosis: sarcoidosis and Crohn's disease in two Indian families." Thorax 46, no. 12 (1991): 919–21. http://dx.doi.org/10.1136/thx.46.12.919.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

27

Rybicki, Benjamin A., Kandace L. Kirkey, Marcie Major, et al. "Familial Risk Ratio of Sarcoidosis in African-American Sibs and Parents." American Journal of Epidemiology 153, no. 2 (2001): 188–93. http://dx.doi.org/10.1093/aje/153.2.188.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

28

Rossides, Marios, Johan Grunewald, Anders Eklund, Susanna Kullberg, Johan Askling, and Elizabeth V. Arkema. "Correspondence for “Clinical epidemiology of familial sarcoidosis: A systematic literature review”." Respiratory Medicine 160 (November 2019): 105696. http://dx.doi.org/10.1016/j.rmed.2019.05.003.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

29

Calender, Alain, Dominique Valeyre, Dominique Israel-Biet, and Yves Pacheco. "Correspondence for "clinical epidemiology of familial sarcoidosis: A systematic literature review"." Respiratory Medicine 160 (November 2019): 105717. http://dx.doi.org/10.1016/j.rmed.2019.06.002.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

30

Terwiel, Michelle, and Coline H. M. van Moorsel. "Correspondence for “Clinical epidemiology of familial sarcoidosis: A systematic literature review”." Respiratory Medicine 160 (November 2019): 105753. http://dx.doi.org/10.1016/j.rmed.2019.07.012.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

31

Miller, John J. "Early-onset “sarcoidosis” and “familial granulomatous arthritis (arteritis)”: The same disease." Journal of Pediatrics 109, no. 2 (1986): 387–88. http://dx.doi.org/10.1016/s0022-3476(86)80411-5.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

32

Schurmann, M., P. Reichel, B. Muller-Myhsok, et al. "Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis." Journal of Internal Medicine 249, no. 1 (2001): 77–83. http://dx.doi.org/10.1046/j.1365-2796.2001.00776.x.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

33

Vizel, A. A., I. Yu Vizel, G. R. Shakirova, and L. A. Vizel. "Characteristics of patients with sarcoidosis who referred to a pulmonologist during the COVID-19 pandemic." Meditsinskiy sovet = Medical Council, no. 20 (November 18, 2023): 164–71. http://dx.doi.org/10.21518/ms2023-289.

Texte intégral

Résumé :

Introduction. During the COVID-19 pandemic, the first experience was gained in managing patients with sarcoidosis in the face of a dangerous viral infection, a combination of two diseases and vaccination against COVID-19. Publications on this issue remain ambiguous, which made it relevant to assess the management of patients with sarcoidosis during a pandemic and the features of vaccination of these patients.Aim. To assess the condition of patients with sarcoidosis who turned to a pulmonologist during the pandemic, to compare the parameters of patients with sarcoidosis who had and did not have

Styles APA, Harvard, Vancouver, ISO, etc.

34

Rossides, Marios, Johan Grunewald, Anders Eklund, et al. "Familial aggregation and heritability of sarcoidosis: a Swedish nested case−control study." European Respiratory Journal 52, no. 2 (2018): 1800385. http://dx.doi.org/10.1183/13993003.00385-2018.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

35

Мановицкая, Н. В., Л. С. Богуш, Е. И. Давидовская, В. О. Мановицкая та О. Н. Якубеня. "Роль некоторых генетических факторов в развитии саркоидоза (обзор)". Рецепт 27, № 6 (2024): 870–81. https://doi.org/10.34883/pi.2024.27.6.003.

Texte intégral

Résumé :

Саркоидоз – это сложное системное воспалительное заболевание, характеризующееся образованием неказеозных иммунных гранулем в различных органах и тканях и активацией Т-клеток в месте гранулематозного воспаления с высвобождением различных хемокинов и цитокинов. Причины развития саркоидоза остаются неясными, но считается, что заболевание развивается при воздействии некоторых факторов внешней среды, которые могут вызывать патологический иммунный ответ у генетически предрасположенных лиц. Клиническая картина саркоидоза характеризуется вариабельностью, четкие прогностические критерии не разработаны,

Styles APA, Harvard, Vancouver, ISO, etc.

36

Yildiz, Mustafa. "Arterial Distensibility in Chronic Inflammatory Rheumatic Disorders." Open Cardiovascular Medicine Journal 4, no. 1 (2010): 83–88. http://dx.doi.org/10.2174/1874192401004010083.

Texte intégral

Résumé :

The pulse wave velocity (PWV), as an indicator of arterial distensibility, may play an important role in the stratification of patients based on the cardiovascular risk. PWV inversely correlates with arterial distensibility and relative arterial compliance. Decreased arterial distensibility alters arterial blood pressure and flow dynamics, and disturbes coronary perfusion. Systemic immune and inflammatory diseases, such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) are associated with increased morbidity and mortality, predominantly due to adverse cardiovascular events. S

Styles APA, Harvard, Vancouver, ISO, etc.

37

Verleden, G. M., R. M. du Bois, D. Bouros, et al. "Genetic predisposition and pathogenetic mechanisms of interstitial lung diseases of unknown origin." European Respiratory Journal 18, no. 32 suppl (2001): 17S—29S. http://dx.doi.org/10.1183/09031936.01.18s320017.

Texte intégral

Résumé :

Understanding of the cellular and cytokine interactions associated with inflammation and fibrosis in interstitial lung diseases (ILDs) has increased substantially during the past few years. Presently, many agents are known to have the ability to induce ILDs, although only a small percentage of exposed individuals will develop the disease. In addition, the majority of ILDs are of unknown origin and many are labelled “idiopathic”. Therefore, host susceptibility, genetic factors and, possibly, environmental cofactors may be important for the clinical expression of ILDs.The present review reports

Styles APA, Harvard, Vancouver, ISO, etc.

38

Erten, Sukran, Cahide Erzurum, Tuba Aktan Kosker, Huriye Tatli Doğan, and Alpaslan Altunoglu. "Two cases of familial Mediterranean fever associated with sarcoidosis (Lofgren's syndrome) and rheumatoid arthritis." International Journal of Rheumatic Diseases 16, no. 3 (2012): 373–75. http://dx.doi.org/10.1111/1756-185x.12004.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

39

Caso, Francesco, Donato Rigante, Antonio Vitale, et al. "Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues." International Journal of Rheumatology 2013 (2013): 1–15. http://dx.doi.org/10.1155/2013/513782.

Texte intégral

Résumé :

Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-on

Styles APA, Harvard, Vancouver, ISO, etc.

40

Damian, Laura, Mihaela Spârchez, Mihaela Lupșe, et al. "NOD2-associated granulomatous autoinflammatory syndromes – a short update for clinicians." Romanian Journal of Pediatrics 70, no. 3 (2021): 173–78. http://dx.doi.org/10.37897/rjp.2021.3.2.

Texte intégral

Résumé :

NOD2 (nucleotide-binding oligomerization domain-2), a pattern recognition receptor, is involved in innate immune defense against pathogens, intestinal mucosal barrier integrity, gut microbiota composition, autophagy, immune homeostasis and inflammation. NOD2 mutations have been associated primarily with childhood diseases (Blau syndrome and sarcoidosis with early-onset, monogenic Crohn’s disease), but also with adult diseases (NOD2-associated autoinflammatory syndrome – NAID, also called Yao syndrome etc.). Intermediate forms between Blau syndrome and NAID have also been described. Blau’s dise

Styles APA, Harvard, Vancouver, ISO, etc.

41

Malik, Ali, Paul Ippolito, Sukruth Pradeep Kundur, and Sanjay Sivalokanathan. "A Case Report: The Utility of Multimodality Imaging in the Diagnosis of Cardiac Sarcoidosis–Has It Surpassed the Need for a Biopsy?" Reports 8, no. 1 (2025): 28. https://doi.org/10.3390/reports8010028.

Texte intégral

Résumé :

Background and Clinical Significance: Cardiac sarcoidosis (CS) is a rare but life-threatening disorder, occurring in 2–5% of sarcoidosis cases, though post-mortem studies suggest a higher prevalence. It presents diagnostic challenges due to nonspecific symptoms and the low sensitivity of an endomyocardial biopsy. Recent guidelines emphasize multimodal imaging, such as cardiac magnetic resonance imaging (MRI) and positron emission tomography (PET). Given the risk of heart failure (HF) and arrhythmias, early detection is critical. This case highlights the role of non-invasive imaging in diagnosi

Styles APA, Harvard, Vancouver, ISO, etc.

42

O’Callaghan, Marissa, Aurelie Fabre, Michael Keane, and Timothy J. McDonnell. "‘When you hear hooves, think zebras, not horses’; two challenging cases of interstitial lung disease (ILD)." BMJ Case Reports 12, no. 2 (2019): bcr—2018–224507. http://dx.doi.org/10.1136/bcr-2018-224507.

Texte intégral

Résumé :

Our case series describes two siblings with complex fibrosing lung diseases. The first patient was initially given a diagnosis of sarcoidosis based on imaging and exclusion of alternative diagnoses. A number of years after diagnosis, he had rapid deterioration of his disease and following surgical lung biopsy, his lung fibrosis was re-classified as chronic hypersensitivity pneumonitis (cHP) with a usual interstitial pneumonia pattern. He subsequently underwent successful lung transplantation. The second patient presented with rapidly progressing exertional dyspnoea. His bloods, imaging, bronch

Styles APA, Harvard, Vancouver, ISO, etc.

43

Calender, Alain, Clarice X. Lim, Thomas Weichhart, et al. "Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis." European Respiratory Journal 54, no. 2 (2019): 1900430. http://dx.doi.org/10.1183/13993003.00430-2019.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

44

Thode, J., S. N. Holmegaard, I. Transbøl, N. Fogh-Andersen, and O. Siggaard-Andersen. "Adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood compared for clinical evaluation of patients with disorders of calcium metabolism." Clinical Chemistry 36, no. 3 (1990): 541–44. http://dx.doi.org/10.1093/clinchem/36.3.541.

Texte intégral

Résumé :

Abstract We report results for adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood from 183 patients with disorders of calcium metabolism (primary hyperparathyroidism, secondary hyperparathyroidism of malabsorption, primary hypoparathyroidism, Paget's disease, acromegaly, hypercalcemia of malignancy, osteoporosis, sarcoidosis, idiopathic hypercalciuria, and familial hypocalciuric hypercalcemia). The correlation and the equation for the linear regression between adjusted ionized calcium (y) and actual ionized calcium (x) were y = 1.011x + 0.005 mmol

Styles APA, Harvard, Vancouver, ISO, etc.

45

ÜSTÜNER, Pelin, Ali BALEVİ, Mustafa ÖZDEMİR, Ülkü Tuğba PARLAKKILIÇ, İlknur TÜRKMEN, and Oktay OLMUŞÇELİK. "A Case of Familial Subcutaneous Sarcoidosis with an Asymptomatic Nodular Lesion on the Upper Eyelid Accompanied by Chronic Osteomyelitis." Turkiye Klinikleri Journal of Dermatology 26, no. 1 (2016): 54–58. http://dx.doi.org/10.5336/dermato.2015-46271.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

46

Majumdar, Sachin K., Tess Jacob, Allen Bale, et al. "A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH." Case Reports in Endocrinology 2020 (September 30, 2020): 1–5. http://dx.doi.org/10.1155/2020/8752610.

Texte intégral

Résumé :

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively. The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging. Case Presentations. We report a mother and daughter with

Styles APA, Harvard, Vancouver, ISO, etc.

47

Limmer, Allison L., Levi C. Holland, and Annabelle L. Garcia. "Unusual presentation and successful treatment of necrobiosis lipoidica in a 15-year-old girl." SKIN The Journal of Cutaneous Medicine 3, no. 3 (2019): 219–22. http://dx.doi.org/10.25251/skin.3.3.7.

Texte intégral

Résumé :

Necrobiosis lipoidica (NL) is a rare, granulomatous skin disease with a predilection for diabetic patients. NL can present both histopathologically and clinically in a similar fashion to other granulomatous dermatoses such as granuloma annulare, necrobiotic xanthogranuloma, and cutaneous sarcoidosis. When NL is suspected in patients without glucose intolerance, affirmative diagnosis can be difficult, and other comorbidities may be probed, as NL has been associated with conditions such as hypertension, dyslipidemia, and thyroid disorders. Familial disease has also been reported.In the following

Styles APA, Harvard, Vancouver, ISO, etc.

48

Blagova, Olga, Ekaterina Pavlenko, Vsevolod Sedov, et al. "Different Phenotypes of Sarcomeric MyBPC3-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis)." Genes 13, no. 8 (2022): 1344. http://dx.doi.org/10.3390/genes13081344.

Texte intégral

Résumé :

The same variants in sarcomeric genes can lead to different cardiomyopathies within the same family. This gave rise to the concept of a continuum of sarcomeric cardiomyopathies. However, the manifestations and evolution of these cardiomyopathies in pathogenic variant carriers, including members of the same family, remains poorly understood. We present a case of familial sarcomeric cardiomyopathy caused by heterozygous truncating pathogenic variant p.Q1233* in cardiac myosin-binding protein C (MyBPC3) gene. The proband was first diagnosed with restrictive cardiomyopathy combined with left ventr

Styles APA, Harvard, Vancouver, ISO, etc.

49

Parisi, S., L. Lo Sardo, M. C. Ditto, et al. "POS0998-HPR THE EPIDEMIOLOGY OF PRIMARY SJOGREN’S SYNDROME: IS IT A RARE DISEASE?" Annals of the Rheumatic Diseases 82, Suppl 1 (2023): 815.1–815. http://dx.doi.org/10.1136/annrheumdis-2023-eular.4394.

Texte intégral

Résumé :

BackgroundSjogren’s syndrome (SSj) is a systemic disease with autoimmune pathogenesis, with prevalent involvement of the lacrimal and salivary exocrine glands, classified as primary or secondary on the basis of the association with other rheumatic diseases.The epidemiological data in the literature are variable due to the heterogeneity of the populations examined and the different classification criteria used.In a recent systematic review by Baodon Qin et al. In a recent systematic review by Baodon Qin et al. the average incidence rate was 7 cases every 100,000 people/year (range 5-9) with hig

Styles APA, Harvard, Vancouver, ISO, etc.

50

Dinic-Uzurov, Vera, Vesna Lalosevic, Ivana Milosevic, Ivana Urosevic, Dusan Lalosevic, and Stevan Popovic. "Current differential diagnosis of hypereosinophilic syndrome." Medical review 60, no. 11-12 (2007): 581–86. http://dx.doi.org/10.2298/mpns0712581d.

Texte intégral

Résumé :

Introduction. Hypereosinophilic syndrome (HES) is a group of idiopathic disorders associated with single or multiple organ system dysfunction. HES must be distinguished from reactive eosinophilia in parasitic infections, allergic diseases, and especially from hematological diseases of clonal origin. Reactive eosinophilia due to infectious and parasitic diseases. Tissue helminth infections, especially toxocariasis, cause severe and long-standing hypereosinophilia. Despite specific therapy, eosinophilia may persist for over a year after diagnosis, and decreases slowly. Other helminth infections,

Styles APA, Harvard, Vancouver, ISO, etc.

Nous offrons des réductions sur tous les plans premium pour les auteurs dont les œuvres sont incluses dans des sélections littéraires thématiques. Contactez-nous pour obtenir un code promo unique!