Sudanese journal of paediatrics最新文献

The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation. Patients were identified from the electronic medical records of the Saudi NGHA hospitals using the International Classification of Disease (ICD-10). A trained coordinator verified the diagnosis and entered patients' details into the registry and a random sample was validated by experienced endocrinologists. The data were analyzed according to patients' demography, diabetes subtypes, duration, control, and complications. The challenges faced by the team were identified and addressed. At the time of manuscript submission, 2,344 individuals were enrolled. Their mean age at diagnosis was 9.08 (±4.27) years and 1,136 (48.46%) were females. Of these, 91.3% have type 1 (T1D), and 6.4% have type 2 diabetes (T2D). The mean HbA1c was 10.45% (±2.36) and duration of diabetes was 5.31 (±3.05) years. The main challenges included the COVID-19 pandemic, data validation, and centers' participation. However, within 12 months of initiation enrolled subjects matched the expected number. Despite the challenges, the first step of SPYDR was achieved. The initial data confirmed that T1D is the most common form of childhood diabetes, and the frequency of T2D is comparable to regional and international data. SPYDR provides the infrastructure for data sharing and collaborative research with the enrollment of patients from other Saudi healthcare institutes.

Sarcoidosis is a chronic multisystem granulomatous disease of unknown etiology. It is rare in young children. A 9-year-old boy presented with failure to thrive, skin rashes, persistent fever, and respiratory symptoms since 5 years of age. Blood investigations done showed elevated serum calcium and angiotensin converting enzyme levels and biopsy of the rashes on the left shin revealed non-caseating granulomatous lesion. Computed tomography of chest revealed interstitial lung disease and examination of eyes showed bilateral uveitis. He also had sensorineural hearing impairment, nephrocalcinosis, and short stature. The patient was treated with oral steroids and mycophenolate mofetil. At follow up, there was improvement in his systemic features including rashes and arthritis. Early detection, diagnosis, and appropriate treatment of sarcoidosis are vital for disease control and to avoid morbidity.

Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis. Molecular genetic testing may confirm the diagnosis. We present a 12-day-old boy who presented with salt loss and dehydration, initially thought to be CAH which was later confirmed biochemically to be PHA type 1, and eventually genetic testing revealed the presence of the novel heterozygous NM_000901.5(NR3C2):c.1876T>G (p.(Phe626Val)) variant in the infant and in his father. Interestingly, the father had asymptomatic hyperaldosteronism. We classified NM_000901.5(NR3C2):c.1876T>G as likely pathogenic according to the American College of Medical Genetics and Genomics criteria. Functional validation and/or identifying more patients with NM_000901.5(NR3C2):c.1876T>G are necessary to corroborate the pathogenicity of the variant.

Non-compaction cardiomyopathy (NCCM) or spongy myocardium is a rare type of congenital cardiomyopathy. Visceral leishmaniasis is a protozoal disease caused by Leishmania donovani and transmitted by the bite of female sand-fly species of Phlebotomus argentipes, which is common in tropical areas like Sudan. We report a 6-year-old female, presented with a fever of unknown origin, weight loss, anemia that necessitated multiple blood transfusions and had hepatosplenomegaly. Developed heart failure later on admission the current case narrates an unusual combination of diseases with therapeutic challenges in a resource-limited setting.

Using two databases, this bibliometric analysis was done for the papers published by the Faculty of Medicine, University of Khartoum (FMUK), from 2019 to 2023. Data were extracted from SCImago for all Sudan, and from PubMed for the publications by FMUK and its associated research centres, the Institute of Endemic Diseases, and the Mycetoma Research Center. The analysis of publications included the count and type of publications, the journals, and national and international collaboration assessment. The publications from FMUK show improvement over time in number and quality, a growth that is significantly influenced by national and international collaboration. These partnerships have proven to be a key driver of FMUK's research output, together with the valuable contributions of the specialized research institutions. However, there is room for improvement in the research output by increasing institutional capacity to support research and scientific communication. The Sudanese Journal of Paediatrics is an example where open access has a positive impact by allowing peripheral journals to be established despite the constraints.

The present study explores the association between linear growth and neurobehavioral outcome in preterm (<34 weeks) when evaluated by NAPI score (Neurobehavioral Assessment of Preterm Infants) at term gestational age (GA). 80 preterm neonates were enrolled for this study and divided into two groups based on the increase in length/week at term corrected gestational age (CGA). Anthropometric parameters were calculated at various time points of study and Z scores were calculated. Neurobehavioral assessment of the enrolled infants was done by NAPI score at 37 and 40 weeks of CGA. After controlling for GA, weight Z scores, and head circumference Z scores, the median score of NAPI-motor development-vigor at 37 weeks and NAPI alertness orientation at 40 weeks were positively related to length Z scores at 37 weeks (p = 0.04) and 40 weeks (p = 0.035), respectively. Neonates with suppressed linear growth have poor short-term neurological outcomes. We recommend linear growth monitoring along with weight gain in the developed countries and diminished linear growth in the neonate as a marker to predict deviation in cognitive outcome in the future.

Low birth weight (LBW) is a major predictor of child mortality and morbidity. The objectives of this study are to determine the proportion and risk factors of LBW. A matched case-control study was conducted at Omdurman Maternity Hospital, Sudan. The study population consisted of all babies delivered in August 2016 excluding stillbirths, multiple births, and babies with insufficient data. All LBW neonates were selected using total coverage sampling as cases and matched on babies' gender with randomly selected normal birth weights as controls. The sample size was 350 babies; 175 test cases and 175 control cases. Data were collected from hospital records and six risk factors were tested: mother age, parity, gravidity, mode of delivery, hypertensive disorders, and diabetes mellitus. The proportion of LBW was 10.8% of the total number of delivered neonates which is 2,938. The bivariate analysis identified that younger mother age (p = 0.03) and hypertension (p = 0.02) were significantly associated with LBW while other factors were found statistically insignificant. Multivariable conditional logistic regression revealed that hypertensive disorders in pregnancy increase the risk for LBW almost three times [Adjusted OR = 2.98 (95% CI: 1.23-7.22), p = 0.02]. We found that hypertension is an independent risk factor for LBW. The proportion of LBWcan be reduced if hypertension is controlled by providing simple measures like proper antenatal care and health education for pregnant women.