Results 41 to 50 of about 143,066 (307)

Inherited Reticulate Pigmentary Disorders

, 2023
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules.
Hsin-Su Yu, Sebastian Yu, I-Chen Lee, Pei-Chen Chou, Min-Huei Lin, Syuan-Fei Yang   +5 more
core   +1 more source

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

Inherited Metabolic Disorders Presenting with Ataxia

, 2020
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental ...
Mercimek-Andrews, Saadet, Grace Silver, Silver, Grace, Saadet Mercimek-Andrews   +3 more
core   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

初诊为脑梗死的X连锁肾上腺脑白质营养不良1例报道A Case Report of X-Linked Adrenoleukodystrophy Initially Diagnosed as Cerebral Infarction

Zhongguo cuzhong zazhi
X连锁肾上腺脑白质营养不良（X-linked adrenoleukodystrophy，X-ALD）是一组罕见的神经系统疾病，其突变位点及临床表现多样，具有遗传异质性和临床异质性。该病的诊断需结合极长链脂肪酸浓度检测与ATP结合盒转运蛋白D1（ATP-binding cassette transporter D member 1，ABCD1）基因的遗传学分析。本文报道1例表现不典型的X-ALD患者被误诊为脑梗死的临床诊疗过程。该患者为青年男性，表现为进行性步态障碍、下肢痉挛伴无力。在诊疗过程中 ...
龚宇田, 梁新明, 曲辉, 周衡, 陈玮琪, 刘艳芳, 赵性泉, 王伊龙GONG Yutian, LIANG Xinming, QU Hui, ZHOU Heng, CHEN Weiqi, LIU Yanfang, ZHAO Xingquan, WANG Yilong
doaj   +1 more source

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

, 2014
Background Glutaric aciduria type I (GA-I) is a cerebral organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase and is characterized biochemically by an accumulation of putatively neurotoxic dicarboxylic metabolites.
Sven F. Garbade, Greenberg, Cheryl R., Gokcay, Gülden Fatma, Cheryl R. Greenberg, Mübeccel Demirkol, Alberto B. Burlina, Peter Burgard, Stefan Kölker, Burlina, Alberto B., Antonia Ribes, Campistol, Jaume, Demirkol, Mubeccel, Ribes, Antonia, Burgard, Peter, Gülden Gökçay, Jaume Campistol, Garbade, Sven F., Koelker, Stefan   +17 more
core   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Factor X Deficiency: A Rare Case of Inherited Coagulation Disorder Presenting As Hemarthrosis

, 2014
Hemophilia due to factor VIII deficiency is most common inherited bleeding disorder in paediatric population. Hemarthrosis is initial manifestation in large number of patients.
Barik, Sumit, Sinha, Sweta
core   +1 more source

Upper GI bleeding in a patient with rare inherited bleeding Disorder – a case report

, 2022
INTRODUCTION/OBJECTIVES: Glanzmann thrombasthenia(GT) is a rare inherited thrombocytopathy characterized by insufficient platelet aggregation and normal platelet count.
Mrzljak, Ana, Knez, Nora, Rosan, Tin, Pulanić, Dražen, Novak, Nikolina   +4 more
core   +1 more source

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source