Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

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.

Teenage pregnancies in Mozambique: the experience of "Servicios Amigos dos Adolescentes" clinics in Beira.

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.

Paternal transmission of behavioural and metabolic traits induced by postnatal stress to the 5th generation in mice.

Life experiences and environmental conditions in childhood can change the physiology and behaviour of exposed individuals and, in some cases, of their offspring. In rodent models, stress/trauma, poor diet, and endocrine disruptors in a parent have been shown to cause phenotypes in the direct progeny, suggesting intergenerational inheritance. A few models also examined transmission to further offspring and suggested transgenerational inheritance, but such multigenerational inheritance is not well characterized. Our previous work on a mouse model of early postnatal stress showed that behaviour and metabolism are altered in the offspring of exposed males up to the 4th generation in the patriline and up to the 2nd generation in the matriline. The present study examined if symptoms can be transmitted beyond the 4th generation in the patriline. Analyses of the 5th and 6th generations of mice revealed that altered risk-taking and glucose regulation caused by postnatal stress are still manifested in the 5th generation but are attenuated in the 6th generation. Some of the symptoms are expressed in both males and females, but some are sex-dependent and sometimes opposite. These results indicate that postnatal trauma can affect behaviour and metabolism over many generations, suggesting epigenetic mechanisms of transmission.

Pattern of domestic violence from 2011 to 2015 in Beira, Mozambique.

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.

Thermal Effect of a Woolen Cap in Low Birth Weight Infants During Kangaroo Care.

BACKGROUND AND OBJECTIVES: World Health Organization guidelines recommend covering the head during kangaroo mother care (KMC), but the effect of a cap on neonatal thermal control during KMC remains to be defined. Our objective was to assess the effectiveness and safety of a woolen cap in maintaining low birth weight infants (LBWIs) in normal thermal range during KMC. METHODS: Three hundred LBWI candidates for KMC in 3 African hospitals were randomly assigned to KMC with (CAP group) or without (NOCAP group) a woolen cap in a 1:1 ratio during the first week after birth. Axillary temperature was measured every 6 hours. Maternal and room temperature and adherence to skin-to-skin contact were registered at the same time points. RESULTS: A total number of 5064 measurements were recorded (median 19 measurements per subject; interquartile range: 10-25). Mean time spent in normal temperature range was 55% (SD 24) in CAP and 56% (SD 24) in NOCAP groups. Multivariable analysis estimated a rate ratio of 0.92 (95% confidence interval: 0.84 to 1.00; P = .06) for the effect of the cap versus no cap on time spent in the normal temperature range. CONCLUSIONS: 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.

The vitamin D grey areas in pediatric primary care. Very low serum 25-hydroxyvitamin D levels in asymptomatic children living in northeastern Italy.

The principal questions about the vitamin D topic are far to be resolved: in which children 25-hydroxyvitamin D blood testing is appropriate and how much cholecalciferol should be given in the absence of the test? Analyzing vitamin D status in a group of children cared by a "family pediatrician" in northeastern Italy we noted a high incidence of deficiency in asymptomatic preschool children without risk factors. As routine vitamin D testing is not recommended in the average risk population the supplementation with cholecalciferol represents a "grey area" mostly in pediatric primary care.