Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating neurophysiological, laboratory and imaging data, along with data from previously reported cases across three different studies. Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, upper motor neuron signs.

Genetic Neuromuscular Disorders and Health Services Access, Utilization, and Needs in Zambia.

Background: Medical and rehabilitative advances increasingly transform management of rare genetic neuromuscular diseases (GNMDs) for children in the global north. Lack of information about GNMDs and related health care needs in sub-Saharan Africa threatens to widen pre-existing health disparities.

Methods: This is a cross-sectional study of probands enrolling in a study of GNMDs at the University Teaching Hospital in Lusaka, Zambia, a member of the International Consortium for Genomic Medicine in Neuromuscular Disease.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

Consensus Competencies for Postgraduate Fellowship Training in Global Neurology.

Background And Objectives: Use a modified Delphi approach to develop competencies for neurologists completing ≥1 year of advanced global neurology training.

Methods: An expert panel of 19 United States-based neurologists involved in global health was recruited from the American Academy of Neurology Global Health Section and the American Neurological Association International Outreach Committee. An extensive list of global health competencies was generated from review of global health curricula and adapted for global neurology training.

A qualitative study of factors resulting in care delays for adults with meningitis in Zambia.

Background: Meningitis causes significant mortality in regions with high comorbid HIV and TB. Improved outcomes are hindered by limited understanding of factors that delay adequate care.

Methods: In-depth interviews of patients admitted to the University Teaching Hospital with suspected meningitis, their caregivers, doctors and nurses were conducted.

Predictors of in-hospital and 90-day post-discharge stroke mortality in Lusaka, Zambia.

Background: Factors associated with stroke mortality are understudied in sub-Saharan Africa but have implications for designing interventions that improve stroke outcomes. We investigated predictors of in-hospital and 90-day post-discharge stroke mortality in Lusaka, Zambia.

Methods: Data from consecutive adults admitted with stroke at University Teaching Hospital in Lusaka, Zambia between October 2018 and March 2019 were retrospectively reviewed for clinical in-hospital outcomes.

A qualitative study of patient, caregiver, doctor and nurse views of factors influencing lumbar puncture uptake in Zambia.

Background: Uptake of lumbar puncture (LP) remains low in regions with a high prevalence of central nervous system (CNS) infections like Zambia. Efforts to improve uptake are hindered by limited understanding of factors influencing LP uptake.

Methods: Semistructured qualitative interviews were conducted with patients with suspected CNS infection, caregivers, doctors and nurses at the University Teaching Hospitals in 2016.

Task-shifting to optimize outpatient neurological care in Zambia.

Objective: To investigate opportunities for task shifting to decongest an outpatient neurology clinic in Zambia by describing current patient flow through the clinic and potential nodes for intervention using process mapping.

Background: Zambia has a population of approximately 18 million people with 4 full-time adult neurologists, as of 2018, who all practice at the University Teaching Hospital (UTH), the main tertiary care center in the country. As a result of this provider-to-patient ratio, the outpatient neurology clinic is overcrowded and overbooked.

Lumbar Puncture-Related Knowledge, Attitudes, and Practices among Patients, Caregivers, Doctors, and Nurses in Zambia.

Lumbar puncture (LP) is underused for neuroinfectious disease diagnosis in Zambia, but reasons for poor uptake remain speculative. This cross-sectional study assessed LP knowledge, attitudes, and practices among patients/caregivers and healthcare workers (HCWs) and predictors of LP completion. Patients with suspected central nervous system infection, caregivers, and HCWs at the University Teaching Hospitals in 2016 were eligible.

A case of combined central and peripheral demyelination in Zambia.

Overlap syndromes, where otherwise distinct autoimmune processes of the central and peripheral nervous systems are present in the same patient, are uncommon and have not been previously reported in sub-Saharan Africa. We present a case of a 32-year-old man who was found to have both clinically isolated syndrome and chronic inflammatory demyelinating polyneuropathy, highlighting the importance of continued efforts to establish the prevalence of demyelinating disease in the region given the limited treatment options currently available for autoimmune disease.

Is folate deficiency a common cause of distal symmetric polyneuropathy in Zambian clinics?

Objectives: To evaluate the odds of vitamin B12 and folate deficiencies among Zambian clinic attendees with distal symmetric polyneuropathy (DSP) and age, sex, and HIV matched controls.

Methods: Cases were adults from clinics in urban/peri-urban Zambia. Controls were enrolled among persons not seeking personal medical care, such as a caregiver or person collecting antiretrovirals without a medical complaint.

Electrodiagnostic consultations in Zambia: Referral characteristics and neuromuscular disorders.

Introduction: Research on neuromuscular disorders in sub-Saharan Africa is scarce. We aimed to delineate referral characteristics and the neuromuscular disorders observed among electrodiagnostic (EDX) consultations in a tertiary care setting in Zambia.

Methods: EDX records were reviewed for all specialist-performed studies after the establishment of the laboratory.

Factors associated with distal symmetric polyneuropathies in adult Zambians: A cross-sectional, observational study of the role of HIV, non-antiretroviral medication exposures, and nutrition.

Background: Non-antiretroviral (ART) drug exposures and poor nutrition may be important modifiable risk factors for distal symmetric polyneuropathies (DSP) in sub-Saharan Africa.

Methods: We conducted a cross-sectional study of DSP prevalence and factors associated with DSP among clinic attendees in urban and rural Zambia. All participants underwent neurologist-performed examination.

Zinc, vitamin A, and glutamine supplementation in Brazilian shantytown children at risk for diarrhea results in sex-specific improvements in verbal learning.

Objective: To identify the impact of supplemental zinc, vitamin A, and glutamine, alone or in combination, on long-term cognitive outcomes among Brazilian shantytown children with low median height-for-age z-scores.

Methods: A randomized, double-blind, placebo-controlled trial was conducted in children aged three months to nine years old from the urban shanty compound community of Fortaleza, Brazil. Demographic and anthropometric information was assessed.

Epilepsy care challenges in developing countries.

Purpose Of Review: This review discusses recent literature relevant to the diagnosis and treatment of epilepsy in developing countries with particular attention to underlying causes, natural history, and advances made toward optimizing systems of care and bridging the treatment gap.

Recent Findings: Prospective data suggest that cerebral malaria-induced brain injury may explain the high prevalence of epilepsy in malaria-endemic regions. Population-based mortality studies support the long proposed hypothesis that seizure-related deaths contribute to excessive premature mortality.

Apolipoprotein E4 influences growth and cognitive responses to micronutrient supplementation in shantytown children from northeast Brazil.

Objective: Apolipoprotein E4 may benefit children during early periods of life when the body is challenged by infection and nutritional decline. We examined whether apolipoprotein E4 affects intestinal barrier function, improving short-term growth and long-term cognitive outcomes in Brazilian shantytown children.

Methods: A total of 213 Brazilian shantytown children with below-median height-for-age z-scores (HAZ) received 200,000 IU of retinol (every four months), zinc (40 mg twice weekly), or both for one year, with half of each group receiving glutamine supplementation for 10 days.

Neuropsychiatric and socioeconomic status impact antiretroviral adherence and mortality in rural Zambia.

We conducted a prospective cohort study of 496 adults starting antiretroviral treatment (ART) to determine the impact of neuropsychiatric symptoms and socioeconomic status on adherence and mortality. Almost 60% had good adherence based upon pharmacy records. Poor adherence was associated with being divorced, poorer, food insecure, and less educated.

Evaluating the diagnostic capacity of a single-question neuropathy screen (SQNS) in HIV positive Zambian adults.

A single-question neuropathy screen (SQNS) is routinely included in the enrolment data for people commencing antiretroviral therapy in publically funded clinics in Zambia. The authors assessed the sensitivity, specificity, positive and negative predictive value of this SQNS against the Brief Peripheral Neuropathy Screen (BPSN) in detecting HIV-associated sensory neuropathy in patients recruited from a rural and an urban hospital in Zambia. The SQNS was asked followed by conduct of the BPNS by the neurology resident assisted by a Zambian healthcare worker/translator.

Effects of vitamin A supplementation on intestinal barrier function, growth, total parasitic, and specific Giardia spp infections in Brazilian children: a prospective randomized, double-blind, placebo-controlled trial.

Background: This study evaluates the effects of retinol on intestinal barrier function, growth, total parasites, and Giardia spp infections in children in northeastern Brazil.

Subjects And Methods: The study was a double-blind, randomized placebo-controlled trial (http://clinicaltrials.gov; register no.

Closing gaps in antiretroviral therapy access: human immunodeficiency virus-associated dementia screening instruments for non-physician healthcare workers.

Human immunodeficiency virus-associated dementia (HIV-D) is an indication for antiretroviral therapy (ART), but HIV-D is not routinely screened for in ART clinics in sub-Saharan Africa. Given the dearth of physicians in sub-Saharan Africa, enabling non-physician healthcare workers to identify HIV-D is crucial for early treatment initiation and preventing chronic neurologic disability. Non-physician healthcare workers administered locally adapted screening instruments to 48 persons living with acquired immunodeficiency syndrome (PLWAs), and 15 healthy comparison persons provided normative data.

Antiretroviral adherence in rural Zambia: the first year of treatment availability.

We conducted a retrospective chart review of antiretroviral therapy (ART) clinic patients treated during the first 12 months after clinics opened in rural Zambia and assessed adherence based on clinic attendance, patient report, and staff assessment. We identified 255 eligible patients (mean age, 39.7 years; 44.