Pattern of Anorectal malformations in Gzira National Center for Pediatric Surgery (GNCPS)

Background: Anorectal malformations (ARM) are one of the common clinically and socially demanding problems in the world especially in the poorly resourced countries. Patients and Methods: It is a cross-sectional descriptive hospital based study, in the period from June 2009 to December 2011 of 80 patients of ARM in Gezira National Center for Pediatric Surgery (GNCPS). History and examination in addition to invertogram and distal loopogram were the tools of assessment. Results: Eighty children with ARM were studied, 64 males and 16 females. Sixty six patients have delayed presentation. More than 61% presented from rural areas. Twenty-one (26%) patients had one or more associated congenital anomalies, with cardiac and limb anomalies being the most common associated malformation. High anomaly was found in 48.75% of patients, intermediate type was found in 5%, while 43.75% of patients had low anomaly. Conclusion: Delayed presentation entails suboptimal training of midwives and resident doctors in obstetric hospitals and nurseries to evaluate congenital defects in the newborn

Esophageal perforation following foreign body ingestion in children: report of three cases

We report three cases of foreign body esophagus, in two of them the foreign body was a coin, and the third child ingested a disc battery. In all three cases the foreign body was impacted in the mid esophagus. All were initially  evaluated by chest X ray which confirmed the diagnosis.One underwent flexible endoscopic extraction initially followed by rigid esophagoscope later and in the other two extractions was performed using rigid esophagoscope, two of them ended with perforation of the esophagus and treated  conservatively with only chest tube insertion and supportive management.In the third child who ingested a disc battery, esophagoscopy revealed  necrosis and perforation at the site of impaction with formation of trachea-esophageal fistula, extraction was performed but the fistula necessitated surgical closure which failed and therefore underwent stent placement to end with complete cure.Keywords: Foreign body; esophageal perforation; children; rigid endoscope

Field site selection: getting it right first time around

The selection of suitable field sites for integrated control of Anopheles mosquitoes using the sterile insect technique (SIT) requires consideration of the full gamut of factors facing most proposed control strategies, but four criteria identify an ideal site: 1) a single malaria vector, 2) an unstructured, relatively low density target population, 3) isolation of the target population and 4) actual or potential malaria incidence. Such a site can exist in a diverse range of situations or can be created. Two contrasting SIT field sites are examined here: the desert-flanked Dongola Reach of the Nile River in Northern State, Sudan, where malaria is endemic, and the island of La Reunion, where autochthonous malaria is rare but risk is persistent. The single malaria-transmitting vector at both sites is Anopheles arabiensis. In Sudan, the target area is a narrow 500 km corridor stretching from the rocky terrain at the Fourth Cataract - just above the new Merowe Dam, to the northernmost edge of the species range, close to Egypt. Vector distribution and temporal changes in density depend on the Nile level, ambient temperature and human activities. On La Reunion, the An. arabiensis population is coastal, limited and divided into three areas by altitude and exposure to the trade winds on the east coast. Mosquito vectors for other diseases are an issue at both sites, but of primary importance on La Reunion due to the recent chikungunya epidemic. The similarities and differences between these two sites in terms of suitability are discussed in the context of area-wide integrated vector management incorporating the SIT

An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease

Background: Non-alcoholic fatty liver disease (NAFLD) is highly prevalent in children and adolescents, particularly those with obesity. NAFLD is considered a hepatic manifestation of the metabolic syndrome due to its close associations with abdominal obesity, insulin resistance, and atherogenic dyslipidemia. Experts have proposed an alternative terminology, metabolic dysfunction-associated fatty liver disease (MAFLD), to better reflect its pathophysiology. This study aimed to develop consensus statements and recommendations for pediatric MAFLD through collaboration among international experts. Methods: A group of 65 experts from 35 countries and six continents, including pediatricians, hepatologists, and endocrinologists, participated in a consensus development process. The process encompassed various aspects of pediatric MAFLD, including epidemiology, mechanisms, screening, and management. Findings: In round 1, we received 65 surveys from 35 countries and analyzed these results, which informed us that 73.3% of respondents agreed with 20 draft statements while 23.8% agreed somewhat. The mean percentage of agreement or somewhat agreement increased to 80.85% and 15.75%, respectively, in round 2. The final statements covered a wide range of topics related to epidemiology, pathophysiology, and strategies for screening and managing pediatric MAFLD. Conclusions: The consensus statements and recommendations developed by an international expert panel serve to optimize clinical outcomes and improve the quality of life for children and adolescents with MAFLD. These findings emphasize the need for standardized approaches in diagnosing and treating pediatric MAFLD. Funding: This work was funded by the National Natural Science Foundation of China (82070588, 82370577), the National Key R&D Program of China (2023YFA1800801), National High Level Hospital Clinical Research Funding (2022-PUMCH-C-014), the Wuxi Taihu Talent Plan (DJTD202106), and the Medical Key Discipline Program of Wuxi Health Commission (ZDXK2021007)

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

PURPOSE: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease. METHODS: Among the 1000 probands studied with developmental delay and intellectual disability in our database, we found 2 patients with de novo LoF variants in SRRM2. Additional families were identified through GeneMatcher. RESULTS: Here, we report on 22 patients with LoF variants in SRRM2 and provide a description of the phenotype. Molecular analysis identified 12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present. CONCLUSION: We established SRRM2 as a gene responsible for a rare neurodevelopmental disease