Results 161 to 170 of about 79,932 (302)

Monogenic [PDF]

, 2020
openaire   +1 more source

Maternal and perinatal outcomes associated with prophylactic erythrocytapheresis in pregnant women with sickle cell disease

International Journal of Gynecology &Obstetrics, EarlyView.
Pedro Junqueira Fleury Silva, Giovanna Santos Pinto Coelho, Luana de Jesus Pires, Camila Olivares Figueira, José Paulo de Siqueira Guida, Fernanda G. Surita, Juliana da‐Costa‐Santos, Bruno Deltreggia Benites, Paula de Melo Campos, Simone Cristina Olenscki Gilli, Sara T. O. Saad, Fernando F. Costa, Maria Laura Costa   +12 more
wiley   +1 more source

A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity

JPGN Reports, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16‐year‐old male with severe obesity, and persistently elevated liver enzymes ...
Carolena Trocchia, Rachel Herdes, Jodi Gedallovich, Amrita Narang   +3 more
wiley   +1 more source

Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate‐rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights

JPGN Reports, EarlyView.
Abstract Proline and glutamate‐rich protein with a coiled coil domain 1 (PERCC1)‐associated enteropathy is a rare monogenic congenital diarrhea due to defective enteroendocrine cells (EECs). We describe a 6‐year‐old female with intestinal failure since birth.
Teresa Di Chio, Daniela Gattini, Christina Belza, Iram Siddiqui, Bolette Hartmann, Meghan Zoe Benchimol, Shiqi Zhang, Neil E. Warner, Aleixo M. Muise, Yaron Avitzur   +9 more
wiley   +1 more source

Performance of lupus classification criteria in monogenic lupus: a national multicentre cohort study. [PDF]

Rheumatology (Oxford)
Akay N, Sahin S, Atamyildiz Ucar S, Alisan A, Tunce E, Kayhan E, Ugur Es Y, Alkaya A, Baser Taskin B, Unal D, Koru L, Zora HK, Uzun Bektas A, Kacmaz M, Kazanasmaz H, Caglayan S, Sener S, Acun B, Ozomay Baykal G, Yigit Demir Y, Albayrak SE, Bozkaya B, Nurlu O, Yildiz M, Adrovic A, Barut K, Bakkaloglu SA, Gurgoze MK, Balat A, Haslak F, Bora B, Kilic SS, Kalyoncu M, Koker O, Elmas S, Aktay Ayaz N, Ozen S, Celikel Acar B, Ozdemir Cicek S, Balci S, Pac Kisaarslan A, Kisla Ekinci RM, Sozeri B, Kasapcopur O.   +43 more
europepmc   +1 more source

Vedolizumab use for severe chronic enterocolitis in a child with Hoyeraal–Hreidarsson syndrome: A case report

JPGN Reports, EarlyView.
Abstract We report a patient with Hoyeraal–Hreidarsson syndrome (HHS), a telomere biology disorder, who developed severe chronic enterocolitis with inflammatory bowel disease‐like features. Vedolizumab led to improvement in stool frequency, reduced fecal calprotectin, and clinical remission without infectious complications.
Yasutaka Chiba, Manabu Takahashi, Taro Yoshida, Seiya Tagane, Takeshi Shiohata, Shoko Miura, Manami Akasaka   +6 more
wiley   +1 more source

Model Matters: Genetic Architecture and Cardiovascular Physiology in Translational Medicine. [PDF]

JACC Basic Transl Sci
Kleinbongard P, Vilahur G.
europepmc   +1 more source

Cutaneous Pigmentary Changes During Setmelanotide Therapy: Dermoscopic and Confocal Findings in Two Patients

JEADV Clinical Practice, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4 receptor agonist approved for the treatment of rare forms of genetic obesity. Through off‐target activation of the melanocortin‐1 receptor, it may induce cutaneous pigmentation changes; however, data regarding its effects on melanocytic nevi remain limited.
Martina Cavicchi, Claudia Lasagni, Silvana Ciardo, Francesca Giusti, Albino Eccher, Caterina Longo   +5 more
wiley   +1 more source

Disease associations for rare immune genetic variants require statistical or rule-based support. [PDF]

J Hum Immun
Gray PE, Tangye SG, Kirk EP.
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source