Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation.

Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a five-year-old boy with homozygous pathogenic variant c.2906G>A in the ATP binding cassette subfamily B member 4 (ABCB4) gene presented with hepatosplenomegaly and cytopenia without a history of jaundice or itching; he had a history of Epstein-Barr virus infection and family history of liver disease. The patient was started on ursodeoxycholic acid and fat-soluble vitamins and referred to a liver transplant center.

Efficacy and safety of endoscopic dilatation in the management of esophageal strictures in children.

OBJECTIVES: To determine the outcomes  of endoscopic dilatation of esophageal strictures in children. METHODS: Children younger than 18 years of age diagnosed with esophageal strictures over a period of 7 years (June 2010 to June 2017) were reviewed and analyzed retrospectively. The study took place at King Khalid University Hospital, Riyadh, Saudi Arabia. The patients' clinical characteristics, endoscopic findings, and details of the strictures, treatment, and outcomes were documented. RESULTS: Forty-three children with esophageal strictures were identified (median age, 8.1 years; range, 2-17 years; 23 [53.5%] boys). The median age at presentation was 2 years (range, 1-16 years), and the median follow-up period was 3 years (range, one month-17 years). Tracheoesophageal fistula (n=14, 32.6%), gastroesophageal reflux disease (n=10, 23.3%) and eosinophilic esophagitis (n=8, 18.6%) were the leading causes of esophageal strictures. Forty-three patients underwent 180 dilatation sessions; the median number of dilatation sessions per patient was 3 (range, 1-48), and the median interval between sessions was 8 weeks (range, 1-24 weeks). Among 180 dilatation sessions, 3 events (1.7%) of esophageal perforation were observed. The outcomes varied depending on the primary cause of the stricture; complete response was achieved the best in eosinophilic esophagitis-related strictures (87.5%), followed by anastomotic strictures post tracheoesophageal fistula repair (71.4%) and gastroesophageal reflux disease-related strictures (70%). CONCLUSION: Endoscopic dilatation is a safe and effective intervention in the management of esophageal strictures in children, with minimal complications when conducted by experts.

"Kala-Azar is a Dishonest Disease": Community Perspectives on Access Barriers to Visceral Leishmaniasis (Kala-Azar) Diagnosis and Care in Southern Gadarif, Sudan.

Early diagnosis and treatment is the principal strategy to control visceral leishmaniasis (VL), or kala-azar in East Africa. As VL strikes remote rural, sparsely populated areas, kala-azar care might not be accessed optimally or timely. We conducted a qualitative study to explore access barriers in a longstanding kala-azar endemic area in southern Gadarif, Sudan. Former kala-azar patients or caretakers, community leaders, and health-care providers were purposively sampled and thematic data analysis was used. Our study participants revealed the multitude of difficulties faced when seeking care. The disease is well known in the area, yet misconceptions about causes and transmission persist. The care-seeking itineraries were not always straightforward: "shopping around" for treatments are common, partly linked to difficulties in diagnosing kala-azar. Kala-azar is perceived to be "hiding," requiring multiple tests and other diseases must be treated first. Negative perceptions on quality of care in the public hospitals prevail, with the unavailability of drugs or staff as the main concern. Delay to seek care remains predominantly linked to economic constraint: albeit treatment is for free, patients have to pay out of pocket for everything else, pushing families further into poverty. Despite increased efforts to tackle the disease over the years, access to quality kala-azar care in this rural Sudanese context remains problematic. The barriers explored in this study are a compelling reminder of the need to boost efforts to address these barriers.

Prevalence of Helicobacter Pylori among Sudanese children admitted to a specialized children hospital.

The infection by Helicobacter Pylori (HP), a gram-negative bacillus, is more prevalent in the developing countries, and more often among younger people reaching up to 10% of the population in comparison to only 0.5% in more developed world. Generally HP is asymptomatic in children. This study aimed to determining the prevalence of Hp among Sudanese children and to recognize associated epidemiological features. It was a prospective cross sectional study at Gaafar Ibn Aouf children hospital (GCH) in the period between December 2010 and May 2011. GCH is the largest specialized referral hospital in Khartoum and in the Sudan. Those who were diagnosed before as Hp positive were excluded. Full history, Physical examination was performed. A blood sample was taken from every patient and serum was kept at -20°C to be tested for Hp IgG antibodies through ELISA kit (Monobind; Inc., California, USA) as directed by the Manufacturer, and 20 U/mL for antibodies was considered significant and positive. Using SPSS Version 21, categorical variables were compared with Chi-square test where P < 0.05 was taken as statistically significant. This current study included 128/312 (40.1%) children admitted to the hospital who were +ve for HP (56.3% = male). The prevalence of HP is 56.3% among Sudanese children Prevalence of HP increased with age and was directly related to mother and father level of education, socioeconomic status and positive family history.

Evaluation of quality of routine physical examination in urban public basic schools in Khartoum State, Sudan.

The objectives of this study are to identify the availability of the service logistics in basic public schools (structure as quality concept), to assess steps of physical examination according to the ministry of health guidelines (process as quality concept) and to measure satisfaction of service consumers (pupils) and service providers (teacher and doctors). The study involved seven localities in Sudan using questionnaires and observations. The structure in form of material and human resources was not well maintained, equally the process and procedure of medical examination did not well fit with rules of quality, however, the satisfaction level was within the accepted level. As far as structure, process and outcome were concerned, we are still below the standards in developed countries for many reasons but the level of satisfaction in the present study is more or less similar as in else studies.

Poor adherence to the World Health Organization guidelines of treatment of severe pneumonia in children at Khartoum, Sudan.

BACKGROUND: Community-acquired pneumonia (CAP) is as a major cause for childhood morbidity and mortality worldwide. This study was conducted to investigate the adherence and response of the WHO guidelines for treatment of severe pneumonia. METHOD: A cross-sectional study was conducted in the period of June 2009 to July 2010 at Khartoum Hospital, Sudan. Children admitted and treated for severe pneumonia were enrolled. RESULTS: Only 39 (18.8%) out of 208 enrolled children received prescriptions that were adherent to the WHO guidelines of treatment of severe pneumonia. In logistic regression none of the investigated variable (age, gender, and clinical presentations) was associated with the adherence to the WHO guidelines. There was no significant difference in the response between adherent and non-adherent prescriptions. There was no association between the demographic, clinical data, treatment-adherence to the guidelines and the patients' response. CONCLUSION: There is a poor (18.8%) adherence to the WHO guidelines of the treatment of severe pneumonia in the region regardless to the age, gender and clinical presentation.

Consanguinity and inflammatory bowel diseases: is there a relation?

OBJECTIVE: The aim of the present study was to investigate the relation between consanguinity and inflammatory bowel diseases (IBD). METHODS: Review of the medical records of children with a final diagnosis of IBD to determine age, sex, and type of IBD, supplemented by information on consanguinity and family history (FH) of IBD in relatives. There were 138 children, ages 1.4 to 19.3 years, and 50% were girls. RESULTS: The prevalence of consanguinity was 50%, 53%, 39% and 60% in IBD, Crohn disease (CD), ulcerative colitis (UC), and controls, respectively. There was a significantly higher prevalence of consanguinity in controls than in patients with IBD and UC (P = 0.02 and 0.026, respectively), whereas the difference between CD patients and controls was not significant (P = 0.20). The prevalence of first cousin consanguinity was 71%, 73.2%, 61.5% and 70.5% in patients with IBD, CD, UC, and controls, respectively, indicating no significant difference between these conditions and controls (P = 0.95, P = 0.78, P = 0.33, respectively). There was no significant difference in the prevalence of consanguinity in the parents of children with or without a FH of either CD (P = 0.89) or UC (P = 0.32). CONCLUSIONS: There is no significant relation between parental consanguinity and IBD in this population, especially when there is no FH of disease, suggesting reduced genetic susceptibility; however, further studies including larger sample size and details of FH of consanguinity and IBD in multiple generations are needed for further definitions of the role of consanguinity.

Presenting features of childhood-onset inflammatory bowel disease in the central region of Saudi Arabia.

OBJECTIVE: To investigate the presenting features of childhood-onset inflammatory bowel disease (IBD) in the central region of Riyadh, Saudi Arabia and to compare with those reported in the literature. METHODS: This is a retrospective review of medical records of children below 18 years of age at onset of symptoms with confirmed diagnosis of IBD for age, gender, family history, presenting clinical and laboratory findings in the Divisions of Pediatric and Adult Gastroenterology, King Khalid University Hospital (which provides free health care) and the Department of Gastroenterology Al Mofarreh Poly Clinic, Riyadh, Saudi Arabia, between January 1993 and December 2010. RESULTS: Two hundred and eighteen children diagnosed with IBD with predominance of males in Crohn's disease (CD) (56%) and females in ulcerative colitis (UC) (59%). There was no significant difference between UC and CD regarding age of onset of symptoms (p=0.347); however, the difference in the age at presentation and age at final diagnosis were significant (p=0.027 and p=0.008). There was a significant increase of IBD diagnosis from the period 1993-2001 to 2002-2010 (p<0.0001). The family history was positive in 15.3%. CONCLUSION: The presenting clinical features and laboratory abnormalities are similar to those reported in other populations. Further studies are needed to establish the incidence and prevalence.