Diffuse alveolar hemorrhage in a boy with combined methylmalonic acidemia and homocysteinemia
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24940
Abstract: To the Editor, Type cblC caused by the MMACHC gene is the most common subtype of combined methylmalonic academia (MMA) and homocystienemia (HC). Patients with MMACHC mutations develop various clinical manifestations. Here we describe one… read more here.
Keywords: alveolar hemorrhage; combined methylmalonic; boy; hemorrhage ... See more keywords
Kidney involvement in a child with autoimmune disease: Questions
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05021-y
Abstract: A 10-year-old boy was referred to the Department of Pediatric Nephrology inMay 2017 for kidney impairment. The boy was born from a non-consanguineous marriage, and he was the youngest of a family of 3 children.… read more here.
Keywords: nephrology; child; boy; disease ... See more keywords
“The Mouse Looks Like a Boy”: Young Children’s Talk About Gender Across Human and Nonhuman Characters in Picture Books
Sign Up to like & getrecommendations! Published in 2019 at "Early Childhood Education Journal"
DOI: 10.1007/s10643-019-00969-x
Abstract: Recent study on gender representation in children’s literature has focused on the representations themselves, while there is less research regarding how children talk about these depictions in texts. Our work, a qualitative study of how… read more here.
Keywords: children talk; gender; boy; gender across ... See more keywords
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-020-01527-8
Abstract: Muscular dystrophy-dystroglycanopathies are autosomal recessive neurologic disorders, caused by homozygous or compound heterozygous mutations in the POMGNT1 gene-encoding protein O-mannose beta-1,2-N-acetylglucosaminyl transferase. This type of muscular dystrophy is characterized by early-onset muscle weakness, gait ataxia,… read more here.
Keywords: novel missense; missense 386g; muscular dystrophy; boy ... See more keywords
SZT2 mutation in a boy with intellectual disability, seizures and autistic features.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.10.008
Abstract: The seizure threshold 2 (SZT2) gene has been shown to confer a low seizure threshold and may enhance epileptogenesis in mice. However, its biological function is still not known. Mutations in SZT2 have been reported… read more here.
Keywords: intellectual disability; disability; boy; autistic features ... See more keywords
De novo thalamic arteriovenous malformation in a boy with a brainstem cavernous malformation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2020.04.073
Abstract: Brain arteriovenous malformations (bAVMs) have long been considered to be congenital, developing between the third and eighth weeks of embryogenesis. However, cases reporting their de novo formation suggest that these lesions can develop after birth… read more here.
Keywords: novo thalamic; boy; malformation; cavernous malformation ... See more keywords
Multifocal Brain Lesions With Extensive Perilesional Edema in a Young Boy Returning From Kenya.
Sign Up to like & getrecommendations! Published in 2018 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2017.03.021
Abstract: We report the case of an 8-year-old boy who presented with headaches, optic disc edema, and left eye esotropia. He had recently returned to the United States after living in Kenya for approximately 3 years.… read more here.
Keywords: multifocal brain; boy; perilesional edema; brain lesions ... See more keywords
Ten-year-old boy with congenital long QT syndrome type 2 (LQTS2) and life-threatening electrical storm: a case report of successful treatment with mexiletine.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122000774
Abstract: We present a case of a boy with long QT syndrome type 2, who was admitted after an out of hospital cardiac arrest due to ventricular fibrillation. Subsequently, all treatments - intravenous magnesium, optimisation of… read more here.
Keywords: syndrome type; long syndrome; storm; electrical storm ... See more keywords
Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric hematology and oncology"
DOI: 10.1080/08880018.2022.2140235
Abstract: Aceruloplasminemia inherited autosomal recessively in the ceruloplasmin gene is a progressive disease with iron accumulation in various organs such as the brain, liver, pancreas, and retina. Ceruloplasmin gene encodes ceruloplasmin protein, which has ferroxidase activity… read more here.
Keywords: microcytic anemia; variant; aceruloplasminemia presenting; boy ... See more keywords
Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Infectious Disease Journal"
DOI: 10.1097/inf.0000000000002945
Abstract: X-linked hyper IgM (X-HIGM) syndrome is a combined immunodeficiency disease caused by mutations in the CD40LG gene, leading to a defect in immunoglobulin (Ig) class switching recombination and effector T-cell responses. X-HIGM patients usually present… read more here.
Keywords: previously healthy; hyper igm; cryptococcosis; presented cutaneous ... See more keywords
Successful Management of Catastrophic Thrombotic Storm in a Young Boy: A Case Report From Northern India.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002069
Abstract: Thrombotic storm is a rare clinical entity characterized by acute to subacute thrombosis developing at multiple sites over a few days to a few weeks. An 11-year-old boy presented with headache and facial nerve palsy.… read more here.
Keywords: storm; catastrophic thrombotic; management catastrophic; thrombotic storm ... See more keywords