A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene has been recently reported in six cases affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We documented a case of a 2-month-old girl presenting with severe hypotonia and nystagmus, who rapidly deteriorated and died at the age of three months. Increased cerebral spinal fluid level of lactate, documented also at the brain spectroscopy, involvement of the cortex, restricted diffusion of white and gray matter abnormalities, sparing of the corpus callosum and extensive involvement of the spinal cord were observed. Her clinical presenting features and course as well as some neuroradiological findings mimicked those of early-onset leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate (LBSL). The analysis of the mitochondrial respiratory chain function showed a reduced activity of complexes II and IV. The girl harboured two heterozygous mutations in the ISCA2 gene. A comprehensive review of the literature and a comparison with the cases of early onset LBSL enabled us to highlight significant differences in the clinical, biochemical and neuroradiological phenotype between the two conditions, which also emerged from the comparison with the other 6 reported cases of ISCA2 gene mutation previously reported. In summary, this represents the second report ever published associating ISCA2 gene mutation with a mitochondrial leukoencephalopathy, with a different genetic mechanism to the previous cases. Molecular analysis of ISCA2 should be included in the genetic panel for the diagnosis of early onset mitochondrial leukoencephalopathies.

The purpose of this article is to provide insights into the demand for pregnancy-related health services by adolescent girls and young women in Mozambique. We analysed the patient registers for the first year of operation (2014) of the Servicios Amigos dos Adolescentes (SAAJ) [Friendly Services for Adolescents] clinics in Beira, Mozambique. These registers provide details of the service demands of, and services provided to the 8 290 adolescent girls and young women who accessed the 6 SAAJ clinics in 2014. Analysis of that record, with disaggregation of the patients according to age (9 years or less; 10-14; 15-19; 20-24; 25 and older), show that 3 021 (36%) were pregnant or had previously been pregnant; most being girls in the 15-19 age band (59%). Being pregnant or having been pregnant previously was associated with dropping out of school. Of all the girls and women, 60% agreed to HIV testing and counselling; the HIV prevalence rate amongst this group was 4-5% amongst adolescents and 25% amongst women 25 years and older. A minority of the girls and women who were pregnant or had been pregnant previously agreed to HIV testing and counselling. Notwithstanding the limitations for analysis, the results were alarming: substantially high HIV prevalence rates were indicated (2% amongst 10-14 year old girls; 8% amongst 15-19 year olds; 10% amongst 20-24 year olds; and 28% amongst >24 year olds). The data from the SAAJ clinics and results pertain only to conditions in Beira. However, as the first empirical assessment of pregnancy-related service demand amongst adolescent girls and young women in the country and involving a relatively large sample, we contend that this study affirms the need for expansion of sexual and reproductive health (SRH) services, including HIV services, for adolescent girls and young women in Mozambique.

In these 3 African, low-resource settings and so many days post birth, the use of a woolen cap was safe but provided no advantages in maintaining LBWI in the normal thermal range while being in a KMC ward. LBWIs spent only half of the time in the normal temperature range despite warm rooms and skin-to-skin contact. Maintaining normothermia in LBWIs remains an unfinished challenge in low-resource settings.

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Background Violence against women represents a violation of a fundamental human right and is a significant cause of death and disability worldwide. In developing countries, this issue is particularly dramatic and in sub-Saharan Africa were reached 65% of women reporting domestic violence. Objective In this study, we assessed the burden and pattern of domestic violence registered at Beira Central Hospital, Mozambique from 2011 to 2015. Methods We performed a descriptive analysis of data collected at the CHB Legal Medicine Service. Results In five years, are recorded a total amount of 1,491 admissions for domestic violence of which 1307 were females. About 80% of all female cases are represented by the 11–40 age range and, in almost 90% the aggressor was the current or past partner. More than 75% were cases of repeated violence and in more than 60% there were minors attending the phenomenon. Conclusion It is crucial to act immediately and with a multi-disciplinary approach in order to fight domestic violence, especially against women due to its dramatic consequences as isolation, inability to work, loss of wages, lack of participation in regular activities and limited ability to care for themselves and their children.