Positive attitudes to pediatric HIV testing: findings from a nationally representative survey from Zimbabwe.

Objective: Early HIV testing and diagnosis are paramount for increasing treatment initiation among children, necessary for their survival and improved health. However, uptake of pediatric HIV testing is low in high-prevalence areas. We present data on attitudes towards pediatric testing from a nationally representative survey in Zimbabwe.

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli. Mutations in the GlyR α(1) subunit gene (GLRA1) are the major cause of this disorder, since remarkably few individuals with mutations in the GlyR β subunit gene (GLRB) have been found to date. Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions.

Neonatal stroke.

Neonatal stroke encompasses a range of focal and multifocal ischaemic and haemorrhagic tissue injuries. This review will concentrate on focal brain injury that occurs as a consequence of arterial infarction, most frequently the left middle cerebral artery, or more rarely as a consequence of cerebral sinus venous thrombosis (CSVT). Both conditions are multifactorial in origin.

Neurologic assessment tool for screening preterm infants at term age.

The screening assessment tool of the Dubowitz neonatal neurologic assessment was adapted for preterm infants. The findings identified as "warning signs" in preterm infants were identical to those found in full-term infants, suggesting that this screening tool can also be used in preterm infants at term age.

Assessment of gestational age using cerebellar measurements at cranial ultrasound: what is the best approach?

Background And Aims: Clinical assessment of gestational age (GA) in preterm infants can be challenging. Several ultrasound approaches for estimating GA using cerebellar measurements are reported, claiming to be simpler and more accurate than clinical assessment, but they are not widely used. We aimed to compare the accuracy of four previously described measurements and compare their use in preterm infants.

Lactate dehydrogenase in hypothermia-treated newborn infants with hypoxic-ischaemic encephalopathy.

Aims:   We investigated whether plasma lactate dehydrogenase (LDH) predicts outcome in hypothermia (HT)-treated term infants with moderate/severe hypoxic-ischaemic encephalopathy (HIE) and additionally whether LDH differs between infants with evidence for acute and nonacute perinatal insults and postnatal collapse (PNC).

Methods:   Data from HT-treated infants with HIE (n = 39) were analysed retrospectively. Adverse outcome was defined as a Mental and/or Psychomotor Developmental Index (Bayley Scales of Infant Development II), at 18 months <70.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and apnea episodes. Missense, nonsense, frameshift, splice site mutations, and large deletions in the human glycine receptor α1 subunit gene (GLRA1) are the major known cause of this disorder. However, mutations are also found in the genes encoding the glycine receptor β subunit (GLRB) and the presynaptic Na(+)/Cl(-)-dependent glycine transporter GlyT2 (SLC6A5).

White matter and cortical injury in hypoxic-ischemic encephalopathy: antecedent factors and 2-year outcome.

Objective: To examine the spectrum of isolated white matter (WM)/cortical injury and its relation to outcomes in infants with hypoxic-ischemic encephalopathy (HIE) and normal appearing basal ganglia and thalami.

Study Design: From 1992-2007, 84 term infants with HIE and normal basal ganglia and thalami on neonatal magnetic resonance imaging were studied; WM/cortical lesions were classified by site and severity. Neurodevelopmental outcomes and head growth were documented at a median age of 2 years.

Feeding and communication impairments in infants with central grey matter lesions following perinatal hypoxic-ischaemic injury.

Background: Basal ganglia and thalamic (BGT) injury is common after acute perinatal hypoxia-ischaemia. Cerebral palsy is the most obvious consequence of BGT injury affecting 70-75% of survivors and is predictable from neonatal magnetic resonance imaging (MRI). However there is no equivalent predictive data for other specific outcomes.

An assessment of the Zimbabwe ministry of health and child welfare provider initiated HIV testing and counselling programme.

Background: Provider-initiated HIV testing and counselling (PITC) is widely recommended to ensure timely treatment of HIV. The Zimbabwe Ministry of Health introduced PITC in 2007. We aimed to evaluate institutional capacity to implement PITC and investigate patient and health care worker (HCW) perceptions of the PITC programme.

Change over time (2007-2009) in HIV preventive behaviours, evidence from two serial population-based surveys in rural Zimbabwe.

Objective: To assess reported HIV knowledge and attitudes, sexual behaviours and HIV testing in Zimbabwe.

Methods: Representative household surveys of all 18-24 year olds and a proportion of 25-44 year olds were conducted in six purposefully selected rural districts in two provinces in 2007 and 2009. Both surveys used the same methods and questionnaires.

A randomised trial of granulocyte-macrophage colony-stimulating factor for neonatal sepsis: outcomes at 2 years.

Objective: The authors performed a randomised trial in very preterm small-for-gestational age (SGA) babies to determine if prophylaxis with granulocyte-macrophage colony-stimulating factor (GM-CSF) improves outcomes (the PROGRAMS trial). Despite increased neutrophil counts following GM-CSF, the authors reported no significant difference in neonatal sepsis-free survival.

Patients And Methods: 280 babies born <31 weeks of gestation and SGA were entered into the trial.

Development of the optic radiations and visual function after premature birth.

Introduction: Visual impairment in preterm infants at term equivalent age (TEA) is associated with impaired microstructural development in the optic radiation, measured as reduced fractional anisotropy (FA) by Diffusion Tensor Imaging (DTI). We tested the hypothesis that these abnormalities develop during the late preterm period.

Methods: DTI was performed in 53 infants born at a median (range) of 30(+1) (25(+4)-34(+6)) weeks post-menstrual age (PMA), 22 of whom were imaged twice.

Prediction of neurodevelopmental outcome after hypoxic-ischemic encephalopathy treated with hypothermia by diffusion tensor imaging analyzed using tract-based spatial statistics.

Introduction: Objective biomarkers are needed to assess neuroprotective therapies after perinatal hypoxic-ischemic encephalopathy (HIE). We tested the hypothesis that, in infants who underwent therapeutic hypothermia after perinatal HIE, neurodevelopmental performance was predicted by fractional anisotropy (FA) values in the white matter (WM) on early diffusion tensor imaging (DTI) as assessed by means of tract-based spatial statistics (TBSS).

Methods: We studied 43 term infants with HIE.

Acceptability of early infant male circumcision as an HIV prevention intervention in Zimbabwe: a qualitative perspective.

Background: Early infant male circumcision (EIMC) is simpler, safer and more cost-effective than adult circumcision. In sub-Saharan Africa, there are concerns about acceptability of EIMC which could affect uptake. In 2009 a quantitative survey of 2,746 rural Zimbabweans (aged 18-44) indicated that 60% of women and 58% of men would be willing to have their newborn son circumcised.

Acyclovir achieves a lower concentration in African HIV-seronegative, herpes simplex virus 2-seropositive women than in non-African populations.

Acyclovir pharmacokinetics was evaluated in 68 HIV-seronegative, herpes simplex virus 2 (HSV-2)-seropositive African women, who received a single oral 400-mg dose of acyclovir, with plasma acyclovir concentrations measured over 8 h. Geometric mean peak concentration and area under the concentration-time curve were 0.31 μg/ml and 1.

Problem-solving therapy for depression and common mental disorders in Zimbabwe: piloting a task-shifting primary mental health care intervention in a population with a high prevalence of people living with HIV.

Background: There is limited evidence that interventions for depression and other common mental disorders (CMD) can be integrated sustainably into primary health care in Africa. We aimed to pilot a low-cost multi-component 'Friendship Bench Intervention' for CMD, locally adapted from problem-solving therapy and delivered by trained and supervised female lay workers to learn if was feasible and possibly effective as well as how best to implement it on a larger scale.

Method: We trained lay workers for 8 days in screening and monitoring CMD and in delivering the intervention.

Perception of risk of vertically acquired HIV infection and acceptability of provider-initiated testing and counseling among adolescents in Zimbabwe.

Objectives: We investigated attitudes toward provider-initiated HIV testing and counseling (PITC) in the suburbs of Harare, Zimbabwe, where late presentation after mother-to-child HIV transmission (MTCT) is a major cause of adolescent mortality.

Methods: Adolescents (10-18 years) attending 2 primary clinics were offered PITC. Participants completed a questionnaire investigating acceptability of PITC, and in-depth interviews with 41 adolescents and 30 guardians explored understanding of long-term survival after MTCT.

Tractography of the corticospinal tracts in infants with focal perinatal injury: comparison with normal controls and to motor development.

Introduction: Our aims were to (1) assess the corticospinal tracts (CSTs) in infants with focal injury and healthy term controls using probabilistic tractography and (2) to correlate the conventional magnetic resonance imaging (MRI) and tractography findings in infants with focal injury with their later motor function.

Methods: We studied 20 infants with focal lesions and 23 controls using MRI and diffusion tensor imaging. Tract volume, fractional anisotropy (FA), apparent diffusion coefficient (ADC) values, axial diffusivity and radial diffusivity (RD) of the CSTs were determined.

Perinatal cortical growth and childhood neurocognitive abilities.

Objective: This observational cohort study addressed the hypothesis that after preterm delivery brain growth between 24 and 44 weeks postmenstrual age (PMA) is related to global neurocognitive ability in later childhood.

Methods: Growth rates for cerebral volume and cortical surface area were estimated in 82 infants without focal brain lesions born before 30 weeks PMA by using 217 magnetic resonance images obtained between 24 and 44 weeks PMA. Abilities were assessed at 2 years using the Griffiths Mental Development Scale and at 6 years using the Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), the Developmental Neuropsychological Assessment (NEPSY), and the Movement Assessment Battery for Children (MABC).

Longitudinal cognitive assessment in healthy late preterm infants.

Background: Longitudinal cognitive development in late preterm (LP) infants has not been previously evaluated, using structured assessments.

Aim: To assess longitudinally cognitive development in a population of healthy LP infants from 12 months to preschool age.

Methods: Sixty-two low-risk LP infants (33-36 weeks gestation) with normal or only minor findings on their cranial ultrasound scans were included in the study.

Predicting motor outcome and death in term hypoxic-ischemic encephalopathy.

Objectives: Central gray matter damage, the hallmark of term acute perinatal hypoxia-ischemia, frequently leads to severe cerebral palsy and sometimes death. The precision with which these outcomes can be determined from neonatal imaging has not been fully explored. We evaluated the accuracy of early brain MRI for predicting death, the presence and severity of motor impairment, and ability to walk at 2 years in term infants with hypoxic-ischemic encephalopathy (HIE) and basal ganglia-thalamic (BGT) lesions.

Pilot randomized trial of therapeutic hypothermia with serial cranial ultrasound and 18-22 month follow-up for neonatal encephalopathy in a low resource hospital setting in Uganda: study protocol.

Background: There is now convincing evidence that in industrialized countries therapeutic hypothermia for perinatal asphyxial encephalopathy increases survival with normal neurological function. However, the greatest burden of perinatal asphyxia falls in low and mid-resource settings where it is unclear whether therapeutic hypothermia is safe and effective.

Aims: Under the UCL Uganda Women's Health Initiative, a pilot randomized controlled trial in infants with perinatal asphyxia was set up in the special care baby unit in Mulago Hospital, a large public hospital with ~20,000 births in Kampala, Uganda to determine:(i) The feasibility of achieving consent, neurological assessment, randomization and whole body cooling to a core temperature 33-34°C using water bottles(ii) The temperature profile of encephalopathic infants with standard care(iii) The pattern, severity and evolution of brain tissue injury as seen on cranial ultrasound and relation with outcome(iv) The feasibility of neurodevelopmental follow-up at 18-22 months of age

Methods/design: Ethical approval was obtained from Makerere University and Mulago Hospital.

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a clinical suspicion of KS, molecular cytogenetic analysis revealed an interstitial 9q34 microdeletion proximal to the coding region of the EHMT1 gene based on the NM_ 024757.