Results 71 to 80 of about 45,071 (258)

Early diagnosis of a case of infantile cystic fibrosis and review of literature in Taiwan

Journal of Medical Sciences, 2019
Few cystic fibrosis (CF) cases in Taiwan have been published. We report a case of 2.5-month-old male infant presented recurrent infection, failure to thrive, and nutritional deficiency dermatitis initially.
Hsiao-Chi Lin, Shao-Wei Huang, Ying-Chun Lu, Chih-Chien Wang   +3 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Failure to Thrive, Can this be Bartter’s Syndrome?

Journal of the Dow University of Health Sciences, 2011
A case series of four children, of different age groups, having complaints of polyuria and failure to thrive. These cases include two infants, a toddler and a child and investigations revealed that they had hyponatremia, hypokalemia, hyperchloremia and ...
Nighat Aijaz, Saira Waqar Lone, Nasrul Huda, S. Shakil Ahmed Rizvi, Abdul Gaffar Billoo   +4 more
doaj   +2 more sources

Shwachman–Diamond Syndrome: A Rare Possibility in a Child with Failure to Thrive and Recurrent Infections - A Case Report

Indian Pediatrics Case Reports
Background: Shwachman–Diamond Syndrome (SDS) is a rare inherited autosomal recessive multisystem disorder, with features of pancreatic exocrine insufficiency, skeletal malformations, immunodeficiency, and bone marrow failure having a high risk of myeloid
Vagisha Sharma, Neha Goel, Amitabh Singh, Satnam Kaur   +3 more
doaj   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

A Renal Cause of Failure to Thrive [PDF]

Revista Portuguesa de Nefrologia e Hipertensão, 2022
Joana Branco, Mafalda Crisóstomo, Telma Francisco, Marta Amorim, Margarida Abranches   +4 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi, Casianus Gemoh, Denise Chapman, Edmund Hypolite, Simon Angok, Melanie Baak, Joel Windle   +6 more
wiley   +1 more source