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Effects of Pediatric Rehabilitation on Children With Spastic Quadriplegia Primary to Seizure Disorder and Global Developmental Delay: A Case Report.
Cureus
March 2024
Department of Pediatric Physiotherapy, Ravi Nair Physiotherapy College, Datta Meghe Institute of Higher Education and Research (DU), Wardha, IND.
The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay.
View Article and Find Full Text PDFSturge-Weber Syndrome: A Case Report.
JNMA J Nepal Med Assoc
November 2023
Department of Internal Medicine, Manmohan Cardiothoracic Center, Maharajgunj, Kathmandu, Nepal.
Unlabelled: Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures.
View Article and Find Full Text PDFRapid recovery in a child with febrile ulceronecrotic Mucha-Habermann disease following intravenous immunoglobulin administration.
Pediatr Dermatol
May 2024
Department of Pathology, Christian Medical College and Hospital, Vellore, India.
Article Synopsis
- Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a serious skin disorder that can lead to severe health complications in children and requires prompt management to prevent fatal outcomes.
- Treatment options are limited due to the few reported cases and lack of substantial research, making it challenging to find effective therapies.
- A case study of a five-year-old child with FUMHD and seizures showed that while multiple treatments were ineffective, a single infusion of low-dose intravenous immunoglobulin led to rapid improvement and disease control.
Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.
Stem Cell Res
December 2023
First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China. Electronic address:
Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair. Heterozygous mutations in the SMARCA2 gene are the most common cause of NCBRS. Here, we generated an induced pluripotent stem cell line SDQLCHi056-A from a five-year-old girl with NCBRS caused by heterozygous mutation (c.
View Article and Find Full Text PDFDeletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
Genes (Basel)
June 2023
Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Roma, Italy.
Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal gene have been recently associated with "intellectual developmental disorder, autosomal dominant 53″ (OMIM#617798), a syndrome characterized by variable clinical manifestations including mild to severe intellectual disability, delayed psychomotor development, delayed or absent speech, delayed walking, seizures, dysmorphic features and behavioral psychiatric manifestations as autism spectrum disorders, aggressive behavior, and hyperactivity. (OMIM*114078) encodes for a subunit of the calcium/calmodulin-dependent serine/threonine kinase II (CaMKII), which is predominately expressed in the brain, where it plays critical roles in synaptic plasticity, learning, and memory as well as in neuronal migration.
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