Six patients with autosomal dominant osteopetrosis were treated orally with 100 mcg. triiodothyronine (T3) daily for seven days. The effect of T3 on bone remodelling was monitored. T3 treatment increased serum T3 from day 1 to 7 (p less than 0.02) with a corresponding fall in serum T4 (p less than 0.01) and serum TSH (p less than 0.02). The levels of thyroid hormones returned to initial levels within the observation period. The renal excretion of calcium and hydroxyproline increased significantly (p less than 0.05) on day 7 and 14 respectively, while there was no significant increase in phosphate excretion. No significant changes were observed in serum calcium, phosphate, or osteocalcin during the study. The observed changes suggest that bone resorption in autosomal dominant osteopetrosis is stimulated by exogenous administration of T3.
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http://dx.doi.org/10.1016/8756-3282(88)90032-4 | DOI Listing |
FASEB J
January 2025
Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe, Japan.
DFNA1 (deafness, nonsyndromic autosomal dominant 1), initially identified as nonsyndromic sensorineural hearing loss, has been associated with an additional symptom: macrothrombocytopenia. However, the timing of the onset of hearing loss (HL) and thrombocytopenia has not been investigated, leaving it unclear which occurs earlier. Here, we generated a knock-in (KI) DFNA1 mouse model, diaphanous-related formin 1 (DIA1), in which Aequorea coerulescens green fluorescent protein (AcGFP)-tagged human DIA1(p.
View Article and Find Full Text PDFTumori
January 2025
IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.
Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
January 2025
Osh State University, Osh, Kyrgyzstan.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL) is a rare inherited disorder in which thickening of the walls of small and medium-sized blood vessels blocks blood flow to the brain. Diagnosis of CADASIL is based on clinical presentation, neuroimaging findings, and genetic predisposition. This disease is uncommon in children; typically, symptoms manifest in individuals between the ages of 20 and 40, though some may exhibit symptoms later in life.
View Article and Find Full Text PDFJBMR Plus
February 2025
Department of Diabetes and Endocrinology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
Cherubism is a rare autosomal dominant skeletal dysplasia, affecting the maxilla and/or mandible. The condition typically has childhood onset, followed by progression until puberty, with subsequent regression. Cherubism lesions share histological features with giant cell tumor of bone, where high-dose monthly denosumab is an effective medical treatment.
View Article and Find Full Text PDFFront Cardiovasc Med
January 2025
Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland.
Background: Loeys-Dietz syndrome (LDS) is a clinically and genetically heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. We present the case of a 16.5-year-old girl with LDS type 2 (LDS2) caused by a heterozygous pathogenic variant, c.
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