RESUMO
Congenital disorders of glycosylation (CDG) are an expanding group of metabolic disorders that result from abnormal protein glycosylation. A special subgroup of CDG type II comprises defects in the Conserved Oligomeric Golgi Complex (COG). In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel variant of COG6 gene found in homozygosity in a Moroccan patient with severe presentation of COG6-CDG (OMIM #614576). We compared the phenotype of our patient with other previously reported COG6-CDG cases. Common features in COG6-CDG are facial dysmorphism, growth retardation, microcephaly, developmental disability, liver or gastrointestinal disease, recurrent infections, hypohidrosis/hyperthermia. In addition to these phenotypic features, our patient exhibited a disorder of sexual differentiation, which has rarely been reported in COG6-CDG. We hypothesize that the severe COG6 gene mutation interferes with glycosylation of a disintegrin and metalloprotease family members, inhibiting the correct gonadal distal tip cells migration, fundamental for the genitalia morphogenesis. This report broadens the genetic and phenotypic spectrum of COG6-CDG and provides further supportive evidence that COG6-CDG can present as a disorder of sexual differentiation.
Assuntos
Anormalidades Múltiplas/genética , Proteínas Adaptadoras de Transporte Vesicular/genética , Anormalidades Craniofaciais/genética , Transtornos do Desenvolvimento Sexual/genética , Atrofia Muscular/genética , Desenvolvimento Sexual/genética , Anormalidades Múltiplas/fisiopatologia , Códon sem Sentido/genética , Defeitos Congênitos da Glicosilação/complicações , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/fisiopatologia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/fisiopatologia , Transtornos do Desenvolvimento Sexual/complicações , Transtornos do Desenvolvimento Sexual/fisiopatologia , Predisposição Genética para Doença , Complexo de Golgi/genética , Homozigoto , Humanos , Lactente , Recém-Nascido , Cariótipo , Masculino , Microcefalia/complicações , Microcefalia/genética , Microcefalia/fisiopatologia , Atrofia Muscular/complicações , Atrofia Muscular/fisiopatologia , FenótipoRESUMO
Due to the current COVID-19 pandemic, worldwide population's lifestyle has changed dramatically, causing psychosocial consequences. Patients presenting a preexisting chronic condition, as Type 1 Diabetes (T1D), are the ones suffering the most from this situation. Moreover, people affected by diabetes are the ones with the worst prognosis, if infected by SARS-CoV-2. We analyzed why patients with T1D were poorly represented between the subjects hospitalized for COVID-19 and why the cases of diabetic ketoacidosis (DKA) were fewer and more severe compared with the past years. Furthermore, literature has showed how patients of all ages with T1D did not experience a deterioration in their glucose control throughout the lockdown. Among other causes, this is also due to the surging use of telemedicine. Finally, we tried to understand how the coronavirus tropism for endocrine tissues could influence the future epidemiology of T1D, focusing on the effects they have on pancreatic ß-cells.
Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , COVID-19 , Saúde Global , Humanos , Prevalência , Fatores de Risco , SARS-CoV-2 , Telemedicina/métodosRESUMO
PURPOSE: The relationship between probiotics and levothyroxine (LT4) requirement has not yet been investigated. The aim of this study was to assess whether a mixture of highly charged Lactobacilli and Bifidobacteria (VSL#3®) is able to influence LT4 metabolism acting on the gut microbiota. METHODS: A prospective, randomized, single-blind, controlled, investigator-started clinical trial was carried out. Patients with primary hypothyroidism were randomly assigned to the study (VSL#3® + LT4) and the control group (LT4). A 2-month treatment phase was followed by 2 months of follow-up. Clinical examination, blood tests for thyroid function and for peripheral tissue markers of thyroid hormones (PTM) were performed monthly. LT4 dose adjustments were performed when necessary. RESULTS: Thirty-nine patients were enrolled in the study group and 41 in the control group. No difference in thyroid function [thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), and free thyroxine (fT4)] and PTM was found between groups and among visits. FT3/fT4 ratio was directly correlated to TSH at each visit in both groups, with the exception of the first evaluation of probiotics-treated subjects (rho = 0.287, p = 0.076). LT4 daily dose adjustments occurred more frequently in the control than in the study group (p = 0.007), despite no differences in the mean LT4 daily dose. In particular, LT4 doses were increased six times in the control group and decreased four times in the study group. CONCLUSION: VSL#3® does not directly alter thyroid functional compensation. A probiotics-mediated influence on thyroid hormones homeostasis is suggested since probiotics supplementation could be able to prevent serum hormonal fluctuations. CLINICALTRIALSGOV ID: Registration number NCT03095963.