BackgroundOver 80% of deliveries in Sudan occur in rural areas, attended by village midwives (VMWs).ObjectiveTo determine the impact of Helping Babies Breathe training and regular peer–peer skills practice (HBBT+RPPSP) on VMW resuscitation practices and outcomes.MethodsIn a prospective community-based intervention study, 71/82 VMWs, reporting to six East Nile rural medical centres, with previous experience in community health research, consented to HBBT+RPPSP. Outcomes included changes in the resuscitation practices, fresh stillbirths (FSB) and early neonatal deaths <1 week (ENND).ResultsThere were 1350 and 3040 deliveries before and after HBBT+RPPSP, respectively, with no significant differences between the two cohorts regarding maternal age, education or area of birth. Drying of the newborn increased almost tenfold (8.4%, n=113 to 74.9%, n=1011) while suctioning of the mouth/nose decreased fivefold (80.3%, n=2442 to 14.4%, n=437) following HBBT+RPPSP. Pre-HBBT+RPPSP9/18 (50%) newborns who had mouth-to-mouth ventilation died, compared with 13/119 (11%) who received bag-mask ventilation post-HBBT+RPPSP. Excluding 11 macerated fetuses, there were 55 perinatal deaths: 14 FSB/18 ENND (6 months pre-HBBT+RPPSP) and 10 FSB/13 ENND (18 months post-HBBT+RPPSP). FSB rates decreased from 10.5 to 3.3 per 1000 births ((χ2)=8.6209, p=0.003), while ENND rates decreased from 13.5 to 4.3 per 1000 live births ((χ2)=10.9369, p=0.001) pre-HBBT+RPPSP and post-HBBT+RPPSP, respectively.ConclusionIn a selected group of VMWs, HBBT+RPPSP was associated with improvements in newborn resuscitation and perinatal outcomes. HBBT+RPPSP could have immense benefits if propagated nationally to all 17 000 VMWs in Sudan.
VMWs, despite a high illiteracy rate, absorbed and sustained HBB skills for at least a year. Regular, low intensity, manikin-based skills training with peers may have helped sustain FMV, but not hand-cleansing skills.
Background
Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate.
Patients & methods
Eleven patients from ten unrelated Sudanese families were included. Clinical & biochemical data were documented and imaging studies done including bone survey and abdominal ultrasound. Liver biopsy was done to confirm the pathological diagnosis in 45% of cases and molecular genetics was performed through contribution with the Exeter genomics laboratory for ten patients.
Results
Reported consanguinity was 70% among our patients. Growth was significantly impaired at presentation with mean weights of (-5.3 ± 1.8) SD and heights (-5.4 ± 2.5) SD. Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. Six families lost undiagnosed siblings with similar clinical presentations. We identified a total of four homozygous pathogenic SLC2A2 variants in our patients, one of whom had a novel mutation.
Conclusions
FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals’ awareness. This is the first series to describe this condition from Sub-Saharan Africa.
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