Results 51 to 60 of about 309,203 (310)

Huntington's disease is a multi-system disorder. [PDF]

, 2015
Huntingtons disease (HD) is one of the most common non-curable rare diseases and is characterized by choreic movements, psychiatric symptoms, and slowly progressive dementia.
Mielcarek, M
core   +1 more source

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín A, Friedman, Jennifer, Garcia-Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, International Working Group on Neurotransmitter related disorders (iNTD), Jeltsch, Kathrin, Jung-Klawitter, Sabine, Kurian, Manju A, Kuseyri, Oya, Lopez-Laso, Eduardo, Mastrangelo, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl-Bürgi, Sabine, Wassenberg, Tessa   +17 more
core   +1 more source

Prevalence and Trajectory of Household Material Hardship Among Children With Advanced Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Families of children with advanced cancer living in poverty experience inferior outcomes including poor parent mental health and worse child quality of life. Household material hardship (HMH: food, housing, transportation, and/or utility insecurity) is a modifiable poverty exposure—and potential intervention target—that ...
Sarah Wright, Morgan A. Paul, Selena Murcia Mendez, Emily Jones, Lucille Lokko, Chelsea Heneghan, Nicholas Purol, Morgan Arnold, Rahela Aziz‐Bose, Colleen A. Kelly, Sandi L. Pruitt, Joanne Wolfe, Kira Bona, Puja J. Umaretiya   +13 more
wiley   +1 more source

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 more
core   +1 more source

Rare inherited disorders of fibrinogen [PDF]

Haemophilia, 2008
Summary.  Fibrinogen, a hexameric glycoprotein encoded by three genes –FGA, FGB, FGG– clustered on chromosome 4q is involved in the final steps of coagulation as a precursor of fibrin monomers required for the formation of the haemostatic plug. Inherited disorders of fibrinogen abnormalities are rare and not as well clinically characterized as some ...
S S, Acharya, D M, Dimichele
openaire   +2 more sources

Proteomics in Inherited Metabolic Disorders

International Journal of Molecular Sciences, 2022
Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects that interfere with the body’s metabolism. The clinical phenotype is highly variable and can present at any age, although it more often manifests in childhood.
Maria del Pilar Chantada-Vázquez, Susana B. Bravo, Sofía Barbosa-Gouveia, José V. Alvarez, María L. Couce   +4 more
openaire   +2 more sources

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles, Greg Russell, Leila H. DeWitt, Kimberly Montez, Callie L. Brown   +4 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

Investigating subsumption in DL-based terminologies: A case study in SNOMED CT [PDF]

, 2004
Formalisms such as description logics (DL) are sometimes expected to help terminologies ensure compliance with sound ontological principles. The objective of this paper is to study the degree to which one DL-based biomedical terminology (SNOMED
Bodenreider, Olivier, Burgun, Anita, Kumar, Anand, Smith, Barry   +3 more
core   +1 more source