RESUMO
Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits that eventually progress to disrupt normal joint articulation. Mutations in the GALNT3 gene were shown to account for the hyperphosphatemic state in both HFTC and hyperostosis-hyperphosphatemia syndrome (HHS), the latter characterized by bone involvement. We present the case of a patient of a Druze ethnic origin with known HFTC that presented to our department with the first documented case of pathologic fracture occurring secondary to the disease. Our report introduces this new phenotypic presentation, suggests a potential role for prophylactic bone screening, and highlights the need for preconception genetic screening in selected populations.
RESUMO
Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions. The condition is caused by bi-allelic loss-of-function variants in the gene PCNT. Here we describe the identification of a novel founder pathogenic variant c.3465-1Gâ¯>â¯A observed in carriers from multiple Druze villages in Northern Israel. RNA studies show that the variant results in activation of a cryptic splice site causing a coding frameshift. The study was triggered by the diagnosis of a single child with MOPDII and emphasizes the advantages of applying next generation sequencing technologies in community genetics and the importance of establishing population-specific sequencing databases.
Assuntos
Antígenos/genética , Efeito Fundador , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Adolescente , Alelos , Linhagem Celular Tumoral , Análise Mutacional de DNA , Nanismo/diagnóstico , Nanismo/genética , Fácies , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/genética , Estudos de Associação Genética/métodos , Testes Genéticos , Humanos , Israel , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Linhagem , Fenótipo , Sequenciamento do ExomaRESUMO
BACKGROUND: Patients with psychiatric disorders have an increased risk for morbidity and mortality from other medical conditions. METHODS: Medical records of all the patients undergoing appendectomy (n = 2594) and laparoscopic cholecystectomy (n = 2874) from 2009 to 2014 in one hospital were reviewed. For each patient with a documented psychiatric disorder undergoing surgery, four controls were matched. RESULTS: The final sample of patients undergoing appendectomy included 96 patients, whereas those undergoing laparoscopic cholecystectomy included 260 patients. In the emergent scenario, psychiatric patients had longer time from symptom appearance to admission, longer hospitalization duration, and increased rate and severity of postoperative complications. In the elective scenario, psychiatric patients were shown to have more postoperative respiratory complications. CONCLUSIONS: Our results, together with the high prevalence of psychiatric disorders in the population, underscore the importance of screening for psychiatric disorders and their proper documentation in surgical patients.
