A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.

Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily associated with centronuclear myopathy with cardiomyopathy. In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion. The mean diameter of type 2 fibers (119 µm) was significantly higher than type 1 (57 µm) (P < 0,001) with a 72% prevalence of type 1 fibers. The patient also had progressive cardiomyopathy treated with heart transplantation. The present report expands the muscle histopathological findings related to mutations in the SPEG gene, including fiber size disproportion without central nuclei. Additionally, this report describes the first case of heart transplantation in a patient with SPEG mutations.

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

OBJECTIVE: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. METHODS: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). RESULTS: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2-associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs∗7) and p.(Tyr132Cys)] were detected. CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.

[Alteration of profile of treatment of the public psychiatric hospitals of Belo Horizonte, Brazil, in the context of mental health care reform]. / Alteração do perfil de atendimento dos hospitais psiquiátricos públicos de Belo Horizonte, Brasil, no contexto da reforma da assistência à saúde mental.

This article seeks to describe the profile of treatment and internment in public psychiatric hospitals in Belo Horizonte, Brazil, from 2002 to 2011. The changes in the characteristics of treatment and the profiles of the patients treated are analyzed in the context of health care reform. It is a study of temporal series with trend analysis by means of linear regression. There was a reduction in the total of patients treated in the period under scrutiny. Inversely, there was an increase in internments with a reduction in length of stay, though no change in readmission rates. Patients from Belo Horizonte prevailed, however a relative increase in demand from the surrounding area was observed. There was a reversal in the prevalence of morbidity switching from psychotic disorders to disorders resulting from the use of alcohol and/or other drugs. The alteration observed in the profile of treatment in public psychiatric hospitals in Belo Horizonte was concomitant with the progressive implementation of community mental health services, which have probably met the demand that was formerly directed to these hospitals. Currently the psychiatric hospital is not the first, much less the only venue for treatment in the mental health network in Minas Gerais.

Alteração do perfil de atendimento dos hospitais psiquiátricos públicos de Belo Horizonte, Brasil, no contexto da reforma da assistência à saúde mental / Alteration of profile of treatment of the public psychiatric hospitals of Belo Horizonte, Brazil, in the context of mental health care reform

O objetivo do artigo é descrever os atendimentos e as internações nos hospitais psiquiátricos públicos de Belo Horizonte de 2002 a 2011, explorando mudanças nas características dos atendimentos e no perfil dos pacientes atendidos; no contexto da reforma da assistência em saúde mental. Estudo de séries temporais com análises de tendência por meio de regressões lineares. No período analisado, houve redução no total de atendimentos. Inversamente, constatou-se o aumento das internações com redução do tempo de permanência e manutenção da taxa de reinternação. Os atendimentos a pacientes da capital foram os mais frequentes, entretanto observou-se crescimento relativo da demanda pelos oriundos da Região Metropolitana. Houve inversão na morbidade prevalente de transtornos psicóticos para transtornos decorrentes do uso de álcool e/ou outras drogas. A alteração observada no perfil de atendimento dos hospitais psiquiátricos públicos de Belo Horizonte foi concomitante com a progressiva implantação de serviços comunitários de saúde mental que provavelmente tem suprido uma demanda que antes se dirigia a esses hospitais. Atualmente o hospital psiquiátrico não constitui a primeira e muito menos a única instância de tratamento da rede de saúde mental de Minas Gerais.

This article seeks to describe the profile of treatment and internment in public psychiatric hospitals in Belo Horizonte, Brazil, from 2002 to 2011. The changes in the characteristics of treatment and the profiles of the patients treated are analyzed in the context of health care reform. It is a study of temporal series with trend analysis by means of linear regression. There was a reduction in the total of patients treated in the period under scrutiny. Inversely, there was an increase in internments with a reduction in length of stay, though no change in readmission rates. Patients from Belo Horizonte prevailed, however a relative increase in demand from the surrounding area was observed. There was a reversal in the prevalence of morbidity switching from psychotic disorders to disorders resulting from the use of alcohol and/or other drugs. The alteration observed in the profile of treatment in public psychiatric hospitals in Belo Horizonte was concomitant with the progressive implementation of community mental health services, which have probably met the demand that was formerly directed to these hospitals. Currently the psychiatric hospital is not the first, much less the only venue for treatment in the mental health network in Minas Gerais.