Prevalence and Risk Factors of Peripheral Artery Disease in a Group of Apparently Healthy Young Cameroonians: A Cross-Sectional Study

Background: The?burden of peripheral artery disease (PAD) is not well known among apparently healthy people in Africa. Aim: To determine the prevalence and associated risk factors of PAD in a group of blood donors seen at the Douala General Hospital—Cameroon. Methods: Between 1st November 2015 and 30th April 2016, we carried out a cross-sectional study. Participants were consenting adults of both sexes, aged ≥ 21 years who presented for blood donation, and were tested HIV negative. We collected socio-demographic data and their past history. We carried out a physical examination and measured their Ankle-Brachial Index (ABI). We defined PAD as an ABI Results: We recruited 103 participants, 55.4% males. The mean age was 33 ± 10 years. The mean ABI on left and right leg was 1.04 ± 0.1 and 1.02 ± 0.1respectively. ABI was higher in males than females both legs (p 0.05). PAD was seen in 11 (10.7%) participants. This was higher in females than males (3.6% versus 19.2%, p = 0.026). Among those with PAD, 8 (72.7%) were asymptomatic (Males: 100% versus Females: 66%, p = 0.9). After adjusting for age and gender, sedentary lifestyle (aOR: 7.14, [95% CI: 1.38 - 33.3], p = 0.019), and female gender (aOR: 6.2, [95% CI: 1.26 - 30.5], p = 0.025) were significantly associated with PAD. Conclusion: The prevalence of PAD was high in this group of HIV negative blood donors, most of whom were asymptomatic. This was associated with females, and a sedentary lifestyle.

Pilot Study: Magnesium Sulphate Administration and Early Resolution of Hypoxic Ischemic Encephalopathy in Severe Perinatal Asphyxia

Introduction: Perinatal asphyxia is one of the leading causes of perinatal death and a recognized cause of neuromotor disability among survivors. About 20% - 30% of asphyxiated newborns who develop hypoxic ischemic encephalopathy (HIE) die during the neonatal period, and one third to one half of survivors are left with cerebral palsy and mental retardation. Objective of the Study: Was to determine the effect of magnesium sulphate as neuroprotective drug in hypoxic ischemic encephalopathy resulting from severe perinatal asphyxia. Materials and Methods: A prospective administration of magnesium sulphate to 52 severely asphyxiated newborns with hypoxic ischemic encephalopathy was conducted over one year period from 1st August 2017 to 31st July 2018. Results: Most (96.2%) of patients were term baby (GA ≥ 37 weeks). Most (90.4%) were in-hospital born, vaginal delivery accounted for 55.8% and 44.2% assisted delivery respectively. About one half (55.8%) of the patients commenced MgSO4 therapy at <6 hours after birth, while 30.6% and 16.6% commenced MgSO4 therapy at 6 - <24 hours and >24 hours after birth respectively. Time of commencement of first enteral feeding (p = 0.018) and time to full enteral feeding (p = 0.015) showed significant correlation with the survival without neurological deficit. The earlier the commencement of MgSO4 therapy, the better the proportion with strong palmar grasp, sucking reflex, tone and early resolution of encephalopathy. Conclusion: All the study subjects treated with magnesium sulphate had impressive improvement;however there is a need to conduct randomized placebo-controlled trial treatment of severe perinatal asphyxia so as to determine its effects on early resolution of hypoxic ischemic encephalopathy/neuroprotective activity.

Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Background Data of classical inborn errors of metabolism （IEM） of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area.

A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms：