Teriparatide (rhPTH 1 –34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism

ConclusionsIn children with syndromic hypoparathyroidism presented here, replacement therapy with rhPTH(1 –34) allowed to maintain adequate levels of the calcium and phosphate in the blood, normalize urinary calcium excretion, and reduce tetanic episodes. In patients with low compliance to conventional therapy or intestinal malabsorption, the use of rhPTH(1–34) could be considered, also to reduce th e side effects of treatment with vitamin D and calcium.
Source: Endocrine - Category: Endocrinology Source Type: research

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Conclusions and Significance: Our study warns that auditory assessment should be evaluated even if the patient with 2q36 deletion syndrome is not obviously presenting hearing loss. In addition, a comprehensive molecular genetics diagnosis involving multiple methods is important to support accurate genetic characterization of this syndrome. PMID: 31403828 [PubMed - as supplied by publisher]
Source: Acta Oto-Laryngologica - Category: ENT & OMF Authors: Tags: Acta Otolaryngol Source Type: research
In conclusion, we describe a rare 'distal 16p12.2microdeletion' widening the phenotypic spectrum associated with the recurrent 16p12.2 microdeletion and support the causative role of OTOA microdeletion in hearing impairment. PMID: 31204719 [PubMed - in process]
Source: Journal of Genetics - Category: Genetics & Stem Cells Authors: Tags: J Genet Source Type: research
Alexandra Mills†, Elizabeth Bearce†, Rachael Cella, Seung Woo Kim, Megan Selig, Sangmook Lee and Laura Anne Lowery* Biology Department, Boston College, Chestnut Hill, MA, United States Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from a hemizygous perturbation, typically a microdeletion, on the short arm of chromosome four. In addition to pronounced intellectual disability, seizures, and delayed growth, WHS presents with a characteristic facial dysmorphism and varying prevalence of microcephaly, micrognathia, cartilage malformation in the ear and nose, and facial asymmetr...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
hak S Abstract Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studies of ASD families with high inbreeding enable the identification of inherited variants of this disorder particularly those with an autosomal recessive pattern of inheritance. In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 reg...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
After the first 13q deletion syndrome case was described in 1963, approximately 180 cases associated with partial or complete deletion of the long arm (q) of chromosome 13 have been reported in medical literature. The various clinical features of this rare syndrome have been established and include moderate to severe mental retardation, growth delay, facial dysmorphic features, limb defects, digestive anomalies, deafness, and various other malformations of the brain, kidney, heart, or eye. Retinoblastoma is the most concerning ocular finding associated with the 13q deletion syndrome.1 The
Source: Journal of Pediatric Ophthalmology and Strabismus - Category: Opthalmology Authors: Source Type: research
In January, 2018, Academic Press published my bookPrecision Medicine and the Reinvention of Human Disease. This book has an excellent " look inside " at itsGoogle book site, which includes the Table of Contents. In addition, I thought it might be helpful to see the topics listed in the Book's index. Note that page numbers followed by f indicate figures, t indicate tables, and ge indicate glossary terms.AAbandonware, 270, 310geAb initio, 34, 48ge, 108geABL (abelson leukemia) gene, 28, 58ge, 95 –97Absidia corymbifera, 218Acanthameoba, 213Acanthosis nigricans, 144geAchondroplasia, 74, 143ge, 354geAcne, 54ge, 1...
Source: Specified Life - Category: Information Technology Tags: index jules berman jules j berman precision medicine Source Type: blogs
In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome. PMID: 29054413 [PubMed - indexed for MEDLINE]
Source: Biochemical and Biophysical Research communications - Category: Biochemistry Authors: Tags: Biochem Biophys Res Commun Source Type: research
In conclusion, our study contributes significantly to delineate the phenotypic spectrum of 2p14 microdeletions.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Abstract: Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma. The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically. The micro-CT ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
We report two patients with chromosomal abnormalities identified on single‐nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G‐banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11.7 Mb and a 15q terminal duplication of 8.2 Mb. In patient 2, SNP array and FISH indicated a 10p terminal deletion of 12.6 Mb and a 7q terminal duplication of 1.9 Mb. This is the first case report of monosomy 10p combined with trisomy 15q (patient 1). ...
Source: Pediatrics International - Category: Pediatrics Authors: Tags: Patient Report Source Type: research
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