Intestinal Intussusception Due to Entrapped Ascaris lumbricoides in a 13-Year-Old Male Patient.

Ascaris lumbricoides is a fairly common intestinal nematode affecting children worldwide, leading to major medical and surgical complications. Although most of the cases are asymptomatic, heavy infestation causes various acute abdominal complications. Ascaris-induced intestinal intussusception is one of the rare presentations. We report a case of a 13-year-old boy with Ascaris lumbricoides infestation presenting with ileocolic intussusception. The patient presented to the emergency unit with colicky abdominal pain, vomiting, and constipation for two days. He was sick-looking and dehydrated. Further examination revealed diffuse abdominal distension with tenderness, guarding, and palpable mass in the right lower quadrant. Ultrasonography showed long-segment ileocolic intussusception with several worms in the intestinal lumen and adjacent mesenteric lymphadenopathy. An exploratory laparotomy was performed, which revealed ileocolic intussusception. The telescopic loop of the ileum was found to be gangrenous and was resected, and a loop ileostomy was performed. The patient was discharged on the seventh day postoperatively without any complications. Physicians in tropical and subtropical countries should consider this condition in the differential diagnosis when they encounter similar presentations in their clinical practice. Sonography is a non-invasive, easy-to-use, and widely available imaging modality that can be employed to diagnose entrapped Ascaris in cases presenting with acute gastrointestinal complications. Early diagnosis and prompt surgical intervention can prevent bowel ischemia/gangrene and significantly reduce morbidity and mortality associated with such cases.

Patterns of Functional Gastrointestinal Disorders Among Children in Makkah City: A Single Institutional Experience.

Background Functional gastrointestinal disorders (FGIDs) are syndromes identified based on a group of symptoms defined according to the criteria of the Rome Foundation. The most commonly observed disorders among the pediatric population are functional abdominal pain disorders and functional constipation. This study aims to identify the patterns of FGIDs among children in Makkah, Saudi Arabia. Methods A retrospective cohort study was conducted at pediatric gastroenterology clinics from 2015 to 2019 in a tertiary centre in Makkah, Saudi Arabia. The FGID outcomes were compared with the patient's gender, age, and other characteristics using Statistical Package for the Social Sciences (SPSS, IBM Corp., Armonk, NY) software to analyze the data. Results One hundred and fifty-two participants met the inclusion criteria, with a mean age of 5.49 ± 3.27 and an average weight of 20.68 ± 12.15 kg. Male patients account for 59.2% of the total population. The prevalence of abdominal pain was 17.84%, while constipation was 50.93%. There was a statistically significant association between abdominal pain and independent variables such as family history (p=0.004) and age, particularly in older children (5-12 years; p=0.001). A statistically significant correlation was found between constipation with gender (p=0.032) and family history (p<0.001). Conclusion The prevalence of functional constipation and abdominal pain increased with age among children in Makkah City, with constipation being significantly more prevalent than functional abdominal pain. There is a significant relationship between age and family history with abdominal pain, whereas gender and family history are associated with a greater likelihood of constipation.

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most frequent form of prelingual hereditary hearing loss in humans. Between 75 and 80% of all nonsyndromic deafness is inherited in an autosomal recessive pattern. Using linkage analysis, we have mapped a novel gene responsible for this form of nonsyndromic hearing impairment, DFNB65, in a consanguineous family from the Azad Jammu and Kashmir regions, which border Pakistan and India. A maximum multipoint LOD score of 3.3 was obtained at marker D20S840. The three-unit support interval is contained between markers D20S902 and D20S430, while the region of homozygosity is flanked by markers D20S480 and D20S430. The novel locus maps to a 10.5-cM region on chromosome 20q13.2-q13.32 and corresponds to a physical map distance of 4.3 Mb. DFNB65 represents the first ARNSHI locus to map to chromosome 20.

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Though many hearing impairment genes have been identified, only a few of these genes have been screened in population studies. For this study, 168 Pakistani families with autosomal recessive hearing impairment not due to mutations in the GJB2 (Cx26) gene underwent a genome scan. Two-point and multipoint parametric linkage analyses were carried out. Twelve families had two-point or multipoint LOD scores of 1.4 or greater within the transmembrane cochlear expressed gene 1 (TMC1) region and were subjected to further screening with direct DNA sequencing. Five novel putatively functional non-synonymous sequence variants, c.830A>G (p.Y277C), c.1114G>A (p.V372M), c.1334G>A (p.R445H), c.2004T>G (p.S668R), and c.2035G>A (p.E679K), were found to segregate within seven families, but were not observed in 234 Pakistani control chromosomes. The variants c.830A>G (p.Y277C), c.1114G>A (p.V372M), and c.1334G>A (p.R445H) occurred at highly conserved regions and were predicted to lie within hydrophobic transmembrane domains, while non-synonymous variants c.2004T>G (p.S668R) and c.2035G>A (p.E679K) occurred in extracellular regions that were not highly conserved. There is evidence that the c.2004T>G (p.S668R) variant may have occurred at a phosphorylation site. One family has the known splice site mutation c.536 -8T>A. The prevalence of non-syndromic hearing impairment due to TMC1 in this Pakistani population is 4.4% (95%CI: 1.9, 8.6%). The TMC1 protein might have an important function in K(+) channels of inner hair cells, which would be consistent with the hypothetical structure of protein domains in which sequence variants were identified.