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Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity.
Clin Cosmet Investig Dermatol
January 2025
Lugansk state medical University, Department of Pathology, Rivne, Ukraine.
Introduction: Marie-Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by a specific pattern of hair loss. Initially described in 1925 by Marie-Unna in a German family spanning over seven generations, MUHH represents a previously unidentified form of congenital hypotrichosis. It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.
View Article and Find Full Text PDFHeterozygous variants in AP4S1 are not associated with a neurological phenotype.
Ann Clin Transl Neurol
January 2025
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
View Article and Find Full Text PDFThe Prevalence of Autoimmune Diseases Among Children With Type I Diabetes Mellitus.
Cureus
December 2024
Paediatrics, Imam Abdulrahman Bin Faisal University, Dammam, SAU.
Background Type I diabetes mellitus (T1DM) is a prevalent chronic illness that typically manifests in childhood. In patients who are genetically predisposed to diabetes, complex interactions between environmental and genetic factors play a role in the development of type 1 diabetes. There is proof that the onset of type 1 diabetes raises the possibility of developing additional autoimmune conditions.
View Article and Find Full Text PDFMedullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients.
Front Oncol
January 2025
Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.
View Article and Find Full Text PDFAnalysis of pulmonary sequestration cases, based on the 11-year birth defects surveillance data of Changsha hospitals.
Sci Rep
January 2025
Office of the National Agency for Drug Clinical Trials, Changsha Hospital for Maternal, Child Health Care of Hunan Normal University, 416 Chengnan Dong Rd, Yuhua, Changsha, 410007, Hunan, China.
Pulmonary sequestration (PS) is a rare congenital malformation that is characterized by the absence of a connection between a portion of the lung tissue and the tracheobronchial tree, with blood supply from arteries throughout the body. Abnormal lung tissue cannot perform the normal gas exchange function. In the absence of timely diagnosis and early intervention, some cases may need labor induction, and some of the infants who survive may develop symptoms in childhood.
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