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Administration of Bisphosphonate Preparations to Mice with Mild-type Hypophosphatasia Reduces the Quality of Spontaneous Locomotor Activity.
Calcif Tissue Int
January 2025
Department of Pharmacology, Tokyo Dental College, 2-9-18, Kandamisaki-cho, Chiyoda-ku, Tokyo, 101-0061, Japan.
Hypophosphatasia (HPP) is a congenital bone disease caused by tissue-nonspecific mutations in the alkaline phosphatase gene. It is classified into six types: severe perinatal, benign prenatal, infantile, pediatric, adult, and odonto. HPP with femoral hypoplasia on fetal ultrasonography, seizures, or early loss of primary teeth can be easily diagnosed.
View Article and Find Full Text PDF[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF). This case report details a neonate presenting with central apnea, profound hypotonia, and refractory seizures, alongside prenatal findings of polyhydramnios and hiccup-like fetal movements, all strongly suggestive of severe NKH. Diagnostic evaluation confirmed markedly elevated glycine levels in serum and CSF, with a CSF-to-plasma glycine ratio exceeding 0.
View Article and Find Full Text PDFCongenital goiter in an alpaca (Vicugna pacos) fetus concomitant with brain pathology in the dam: composing the puzzle.
Vet Res Commun
January 2025
Department of Veterinary Medicine, University of Perugia, Via San Costanzo, 4, Perugia, 06126, Italy.
This study describes the congenital goiter in an alpaca (Vicugna pacos) fetus aborted in November 2021 with the clinical and pathological findings in the dam that was found dead on the farm three weeks after a miscarriage. The dam was a black coat alpaca bred in the Netherlands, imported in Italy in January 2021, and housed in a farm of central Italy for breeding purposes. Signalment and clinical data on dam and fetus were collected from the farmer and referring veterinarian.
View Article and Find Full Text PDFIn-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.
Biomolecules
December 2024
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.
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