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Introduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.
View Article and Find Full Text PDFTriheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.
Cardiol Young
January 2025
Congenital Heart Center, Division of Pediatric Cardiology, Departments of Pediatrics, University of Florida, Gainesville, FL, USA.
Article Synopsis
- Mitochondrial trifunctional protein deficiency is a disorder affecting long-chain fatty acid metabolism, leading to severe heart issues like cardiomyopathy and arrhythmias.
- Triheptanoin, a synthetic medium-chain triglyceride, has shown potential to improve cardiomyopathy in some cases, although research is limited for severe presentations.
- A case is presented of a newborn with severe disease who did not improve despite receiving mechanical support and triheptanoin treatment.
Plural molecular and cellular mechanisms of pore domain encephalopathy.
Elife
January 2025
Department of Neurology, Baylor College of Medicine, Houston, United States.
Article Synopsis
- Variants associated with neurodevelopmental impairments in children are complex and challenging to evaluate due to their diverse nature and unclear causes.
- The study highlights a case of a child with neonatal-onset epilepsy and a specific genetic variant (G256W) that impacts ion channel function and leads to reduced cell stability and conduction in nervous tissue.
- The research also establishes a mouse model that exhibits epilepsy and hyperexcitability in brain cells, linking the genetic variant to observable neurological behaviors and suggesting potential wider implications for understanding similar conditions in other patients.
Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.
Neurol Sci
December 2024
Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We aim to raise awareness on mild QARS1-related phenotypes describing a 6-year-old patient.
Case Description: Epilepsy onset occurred at 3.
Multidisciplinary Treatment of Hemifacial Microsomia: Several Clinical Cases.
Clin Pract
November 2024
Department of Surgery, Faculty of Medicine, University of Salamanca, Alfonso X El Sabio Avenue s/n, 37007 Salamanca, Spain.
Article Synopsis
- Hemifacial microsomia is a congenital condition characterized by underdevelopment of the ear and facial structures, typically involving hypoplasia of the jaw and other facial bones.
- Treatment requires a multidisciplinary team, including specialists like plastic surgeons and orthodontists, and focuses on addressing both the functional and aesthetic aspects of the condition.
- The study emphasizes the need for successful reconstructive surgery since hemifacial microsomia is present at birth, and proper integration into society is crucial for affected infants.
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