Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

Highlights From the Annual Meeting of the American Epilepsy Society 2022

With more than 6000 attendees between in-person and virtual offerings, the American Epilepsy Society Meeting 2022 in Nashville, felt as busy as in prepandemic times. An ever-growing number of physicians, scientists, and allied health professionals gathered to learn a variety of topics about epilepsy. The program was carefully tailored to meet the needs of professionals with different interests and career stages. This article summarizes the different symposia presented at the meeting. Basic science lectures addressed the primary elements of seizure generation and pathophysiology of epilepsy in different disease states. Scientists congregated to learn about anti-seizure medications, mechanisms of action, and new tools to treat epilepsy including surgery and neurostimulation. Some symposia were also dedicated to discuss epilepsy comorbidities and practical issues regarding epilepsy care. An increasing number of patient advocates discussing their stories were intertwined within scientific activities. Many smaller group sessions targeted more specific topics to encourage member participation, including Special Interest Groups, Investigator, and Skills Workshops. Special lectures included the renown Hoyer and Lombroso, an ILAE/IBE joint session, a spotlight on the impact of Dobbs v. Jackson on reproductive health in epilepsy, and a joint session with the NAEC on coding and reimbursement policies. The hot topics symposium was focused on traumatic brain injury and post-traumatic epilepsy. A balanced collaboration with the industry allowed presentations of the latest pharmaceutical and engineering advances in satellite symposia

An assessment of the quality of advice provided by patent medicine vendors to users of oral contraceptive pills in urban Nigeria

Chinazo Ujuju,1 Samson B Adebayo,2 Jennifer Anyanti,3 Obi Oluigbo,3 Fatima Muhammad,4 Augustine Ankomah5 1Research and Evaluation Division, Society for Family Health, Abuja, Nigeria; 2Planning, Research and Statistics Directorate, National Agency for Food and Drug Administration and Control, Abuja, Nigeria; 3Technical Services Directorate, Society for Family Health, Abuja, Nigeria; 4Family Planning Directorate, Society for Family Health, Abuja, Nigeria; 5Department of Population, Family and Reproductive Health, School of Public Health, University of Ghana, Legon, Accra, Ghana Introduction: In Nigeria about 50% of oral contraceptive pill users obtain their products from proprietary patent medicine vendors (PPMVs). This group of service providers are poorly trained and have very limited knowledge about contraception. This paper investigated the nature of the advice offered to simulated current and potential users of oral contraceptive pills. The main objective was to assess the nature and quality of advice provided by PPMVs to pill users. Method: This study is based on findings from a 'mystery client' approach in which three scenarios related to contraceptive pill use were simulated. Each of the 12 mystery clients simulated one of the following three scenarios: new pill users (new to family planning or switching from condom to pills); user seeking a resupply of pills; and dissatisfied pill users intending to discontinue use. Simple random sampling was used to select 410 PPMVs from a total of 1,826 in four states in Nigeria. Qualitative study using in-depth interviews was also conducted. Results: A majority of the PPMVs had pills in stock on the day of the survey and resupplied pills to the clients. PPMVs also understood the reason and importance of referring clients who were new adopters of oral contraceptive methods to a health facility; 30% of the PPMVs referred new adopters to a health facility. However, demand from clients who do not want to go to health care facilities (for various reasons) necessitated the provision of oral contraceptive pills to 41% of the first time users. Some PPMVs prescribed treatment to mystery clients who presented with perceived complications arising from the use of pills, while 49% were referred to a health facility. Conclusion: The advice given by PPMVs often falls short of safety guidelines related to the use of oral contraceptive pills. There is a need to continuously update knowledge among the PPMVs to ensure that they provide quality oral contraceptive services as PPMVs bridge the gap between medical experts and users in rural communities. Keywords: oral contraceptive pills, contraceptives, patent medicine vendors, mystery client, PPMV, quality of care, Nigeri

Global and intertuberal epileptic networks in tuberous sclerosis based on stereoelectroencephalographic (sEEG) findings: a quantitative EEG analysis in pediatric subjects and surgical implications

OBJECTIVE: Recent evidence favors a network concept in tuberous sclerosis (TSC) with seizure generation and propagation related to changes in global and regional connectivity between multiple, anatomically distant tubers. Direct exploration of network dynamics in TSC has been made possible through intracranial sampling with stereoelectroencephalography (sEEG). The objective of this study is to define epileptic networks in TSC using quantitative analysis of sEEG recordings. We also discuss the impact of the definition of these epileptic networks on surgical decision-making. METHODS: Intracranial sEEG recordings were obtained from four pediatric patients who presented with medically refractory epilepsy secondary to TSC and subjected to quantitative signal analysis methods. Cortical connectivity was quantified by calculating pairwise coherence between all contacts and constructing an association matrix. The global coherence, defined as the ratio of the largest eigenvalue to the sum of all the eigenvalues, was calculated for each frequency band (delta, theta, alpha, beta, gamma). Spatial distribution of the connectivity was identified by plotting the leading principal component (product of the largest eigenvalue and its corresponding eigenvector). RESULTS: Four pediatric subjects with TSC underwent invasive intracranial monitoring with sEEG, comprising 31 depth electrodes and 250 contacts, for localization of the epileptogenic focus and guidance of subsequent surgical intervention. Quantitative connectivity analysis revealed a change in global coherence during the ictal period in the beta/low gamma (14-30 Hz) and high gamma (31-80 Hz) bands. Our results corroborate findings from existing literature, which implicate higher frequencies as a driver of synchrony and desynchrony. CONCLUSIONS: Coordinated high-frequency activity in the beta/low gamma and high gamma bands among spatially distant sEEG define the ictal period in TSC. This time-dependent change in global coherence demonstrates evidence for intra-tuberal and inter-tuberal connectivity in TSC. This observation has surgical implications. It suggests that targeting multiple tubers has a higher chance of seizure control as there is a higher chance of disrupting the epileptic network. The use of laser interstitial thermal therapy (LITT) allowed us to target multiple disparately located tubers in a minimally invasive manner with good seizure control outcomes