• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.487-492
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• 2019

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.4
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• pp.209-213
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• 2014

Purpose: Pathologic aerophagia (PA) may lead to bowel perforation or volvulus in mentally retarded patients. The authors investigated the effects of clonazepam on the management of PA in children with severe to profound mental retardation (MR). Methods: This study was undertaken as a retrospective case analysis of 21 PA patients with MR who were followed for over 12 months and diagnosed as having PA. Patients were assigned to two management groups, that is, to a clonazepam randomized open-labeled, treatment group or a reassurance group. The following were recorded and analyzed; age, response, remission rate to clonazepam treatment, and the side effect of clonazepam. It was defined positive response (response+) as being symptom-free for a whole week within 1 month of commencing treatment and remission(+) as being symptom-free for a whole month within 6 months of treatment. Results: The average age of the 21 PA children with MR was 10 years and 13 patients were female. Symptom duration before diagnosis of PA was 7 months. Clinical features of the clonazepam-trial group (n=11) and the reassurance group (n=10) were non-significantly different. Response(+) was achieved by 2 patients (18.2%) in the clonazepamtrial group and by no patient in the reassurance group. Remission(+) was achieved by 6 patients (54.5%) in the clonazepam-trial group and by one patient (10%) in the reassurance group (p=0.040). Conclusion: When PA children with MR with severe bowel distention are considered for surgical treatment to prevent acute abdomen, a trial of clonazepam could be recommended.

• Advances in pediatric surgery
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• v.13 no.1
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• pp.37-44
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• 2007

A vitelline duct (VD) anomaly is a relatively common congenital abnormality of the umbilical area. The anomalies include patent vitelline duct (PVD), cyst, fistula or sinus. The incidence is approximately 2% of the populations, but development of symptoms is rare. Recently, we experienced two cases; PVD accompanied by a small omphalocele and intestinal volvulus due to mesenteric band between Meckel's diverticulum and the mesentery. Thereafter,we evaluated the data of vitelline duct anomalies for 27 years. From 1980 to 2006, 18 cases of VD anomalies were reviewed based on the hospital records retrospectively. There were 15 boys and 3 girls and age ranged from 2 days to 15 years. Among the 18 cases, 15 cases were symptomatic and consisted of Meckel's diverticulum (10 cases), PVD (4 cases) and umbilical polyp (1 case). Three asymptomatic cases of Meckel's diverticulum were found incidentally were and were observed without resection. Ten cases of Meckel's diverticulum were presented with intestinal bleedings (4 cases), intestinal obstructions (5 cases) and perforation (1 case). Wedge resections and segmental resections of ileum were performed in 8 patients and 2 patients, respectively. Postoperative complications were adhesive ileus (1 case) and wound seroma (1 case). Small omphaloceles were accompanied in two of 4 PVD patients. There was 1 small omphalocele case which was accompanied by a prolapse of ileum. In summary, VD anomalies were more common in male and more than half of them were found in patients less than 1 year of age. PVD was diagnosed most frequently in neonates. Meckel's diverticulum presented with intestinal obstruction more frequently than bleeding.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7673-7677
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• 2014

Background: Patients with long-standing inflammatory bowel disease (IBD) have an increased risk of developing colorectal cancer (CRC). Colon cancer risk in IBD increases with longer duration and greater anatomic extent of colitis, the presence of primary sclerosing cholangitis, family history of CRC and degree of inflammation of the bowel. This study aimed to characterize the histopathological pattern of benign colorectal diseases among Saudi patients and to highlight age and gender variations of lesions as base line data for future studies to investigate the link between benign/IBD and colorectal cancers in the local population. Materials and Methods: The materials consisted of 684 biopsies, reported as benign (excluding malignancies and polyps) at the Department of Pathology, King Fahad Hospital, Madinah, Saudi Arabia from January 2006 to December 2013. Data collected and entered in MS-Excel and were analyzed using SPSS-20. Results: Of 684 colorectal tissues reviewed, 408 specimens (59.6%) were from male patients and 276 specimens (40.4%) were from females giving a male: female ratio of 1.5:1. Age of the patients ranged from 4 to 75 years with a mean of 39.6 years. The most frequent histologic diagnosis was a chronic non specific proctocolitis followed by ulcerative colitis, accounting respectively for 52.6% and 31.7% of all cases. These were followed by Crohn's disease 22 (3.2%), ischemic bowel disease 20 (2.9%), diverticular disease 14 (2%), eosinophilic colitis 12 (1.7%) and solitary rectal ulcer 12 (1.7%). A minority of 21 patients (3.1%) were cases of acute nonspecific proctocolitis, schistosomiasis, tuberculosis, volvulus and pseudomembranous colitis. Conclusions: These data show that although chronic non specific proctocolitis and ulcerative colitis were the dominant diagnoses, Crohn's disease, ischemic bowel disease and diverticular disease also existed to a lesser extent and should be considered in the differential diagnosis of benign colorectal diseases. This study provides a base line data for future studies which would be taken up to investigate the link between benign/IBD and colorectal cancers in the local population.

• Parasites, Hosts and Diseases
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• v.53 no.1
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• pp.1-11
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• 2015

Serine proteases form one of the most important families of enzymes and perform significant functions in a broad range of biological processes, such as intra- and extracellular protein metabolism, digestion, blood coagulation, regulation of development, and fertilization. A number of serine proteases have been identified in parasitic helminths that have putative roles in parasite development and nutrition, host tissues and cell invasion, anticoagulation, and immune evasion. In this review, we described the serine proteases that have been identified in parasitic helminths, including nematodes (Trichinella spiralis, T. pseudospiralis, Trichuris muris, Anisakis simplex, Ascaris suum, Onchocerca volvulus, O. lienalis, Brugia malayi, Ancylostoma caninum, and Steinernema carpocapsae), cestodes (Spirometra mansoni, Echinococcus granulosus, and Schistocephalus solidus), and trematodes (Fasciola hepatica, F. gigantica, and Schistosoma mansoni). Moreover, the possible biological functions of these serine proteases in the endogenous biological phenomena of these parasites and in the host-parasite interaction were also discussed.

• Advances in pediatric surgery
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• v.8 no.1
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• pp.11-15
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• 2002

This is a 20 year analysis of the problems associated with enterostomy formation, and closure. Forty-three stomas were established in 43 patients: 23 for anorectal malformations, 11 for Hirschsprung's diseases, 4 for necrotizing enterocolitis, 3 for multiple ileal atresias, 1 for volvulus neonatorum with perforation, and 1 for diaphragmatic hernia with colon perforation. Thirty boys and 13 girls were included (mean age 4.8 months). Stoma complications were encountered in 13 patients (30.2 %): stomal prolapse, stenosis, obstruction, paracolic hernia, retraction, dysfunction, and skin excoriation, Four patients (9.3 %) required stomal revision. Occurrence of complications was not related to age and primary disease, but sigmoid colostomy showed lower complication rate than transverse colostomy (20.0 % vs 42.9 %, p<0.05). There were five deaths but, only one (2.3 %) was directly related to the enterostomy complication. Twenty-one stomas were closed in our hospital and complications occurred in seven patients (33.3 %). The most common complication was wound sepsis in 5 children. In conclusion, because the significant morbidity of stomal formation still exists, refinements of the surgical technique seem to be required, Sigmoid loop colostomy is preferred whenever possible.

• Journal of Yeungnam Medical Science
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• v.4 no.1
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• pp.33-42
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• 1987

Congenital origin intestinal obstruction are important disease due to required emergency operation. So accurate and rapid diagnosis is needed for decreased mortality and morbidity. Radiologist must detect to accurate obstruction site and also associated other congenital anomalies. And also embriological bases are very important role to the diagnosis of theses diseases. We were analysed radiologically and clinically 25 cases with congenital origin intestinal obstruction with review of literature. 1. Hypertrophic pyloric stenosis 6 cases, midgut malrotation 4 cases, congenital megacolon 8 case, imperforated anus 5 cases, ileal atresia 1 case and duodenal atresia 1 case. 2. Male and female radio were 16:9. Especially on hypertrophic pyloric stenosis, 5 cases were male infants. 3. All cases of hypertrophic pyloric stenosis represented string sign and also pyloric beak sign shoulder sign on UGI. 4. I case duodenal atresia showed double bubble sign on simple abdomen x-ray and ileal atresia showed mechanical small bowel obstruction sign with microcolon. 5. On midgut malrotation, cecum was located in right upper abdomen on 4 cases. And 2 cases were associated with Ladd's band. I case with volvulus and 1 case with mesenteric defect. 6. Involved site of all congenital megacolon were localized to rectosigmoid colon. 7. On 5 cases imperforated anus, 3 cases were low type and 2 case high type. Rectoperineal and rectourogenital fistula were demonstrated on 4 cases.

• Journal of Korean Academy of Nursing
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• v.1 no.1
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• pp.27-43
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• 1970

This study is designed to find out proper nursing activities for the needs of the colostomy patients, i.e., mental and psychological as well as physical needs for rapid recovery, and to help them build up the follow-up care for proper social adjustment. The study is based on 268 cases out of 381 colostomy patient's records kept in Ewha Womans University Hospital, Yonsei Medical Center, and National Medical Center in between the period from Jan. 1953 to Jan. 1970. The items of study are mainly on etiology, sex, age, duration of hospitalization, mortality rate, seasonal frequency, time from the onset of illness to the admission of the hospital, signs and symptoms. 1. Frequency of onset by etiology: Neoplastic disease 112 cases (42%), Inflammatory disease 33 cases (12%), Congenital malformation 30 cases (11%), Intussusception 25 cases (9.3%), Trauma 24 cases (9%), Volvulus 17 cases (6.3%), and Crohn's disease 6 cases (2.2%). 2. By sex: male 167 cases (62.9%), and female 101 cases (37.1%). So the ratio of portion of male and female 2:1. 3. By age: under 1·year·old 27 cases (10.1%) highest, 41-50 yrs 54 cases (20.2%), 51-60 yrs 42 cases (15.5%), above 71 yrs 5 cases (1.9%). 4. Duration of hospitalization: the shortest is 2-days and the longest is 470 days. 1-20-days 52%, 40-60 days 14%. 5. Mortality rate: Under the 10-days-admission 19.5%, and the beyond 30-days-admission 3.9%. 6. Seasonal frequency: Higher in summer (32% ). 7. Signs and symptoms: abdominal pain (56%), abdominal distention (54%), vomiting (40%), bloody mucoid diarrhea (38%) , pain of anal region (18%), abdominal tenderness, anorexia, indigestion, constipation, disuria, tenesmus, high fever and chilling sensation, bile tingled vomiting. Nursing activities for the patient's physical needs are as follows: Skin care for colostomy region, Prevention of colostomy constriction and depression, Removal of an offensive odor, The use of colostomy bag-selection for, and demonstration of the use of inexpensive colostomy irrigation equipment, Personal hygiene, general skin care, care of hair, finger nails and toe-nails, Oral hygiene, sleep and rest, aquate, Daily activities, etc. Measures for regulation of bowl movement. Keeping the instruction of taking food, Preparing the meal and help for anorexia, Constipation and it's solution, Prevention of diarrhea, helping the removal of mucous, and stretch constricted steam as needed. Nursing activities for pt's socio-psychological needs are as follows; Help the patient to make decision for the operation, Remove pt's anxiety toward operation and anesthesia, To meet the pt's spiritual needs at his death bed, Help to establish family and friends cooperation, Help to reduce anxiety at the time of admission and it's solution, Help to meet religious need, Help to remove pt's anxiety for loosing his job and family maintenance, Follow-up studies for 7 cases have been done to implement the present thesis. The items of the personal interviews with the patients are as follows: Acceptability for artificial anus, The most anxious thing they had in mind at the time of discharge, The most anxious thing they hat·e in mind at present, Their friends and family's attitudes toward the patient after operation, Relations with other colostomy patients, Emotional damage from the operation, Physical problem of enema, irrigation, Control of diet, Skin care, Control of offensive odor, Patient's suggestions to nurses during hospital stay and after discharge. In conclusion, the follow-up care for colostomy patients shares equal weight or perhaps more than the post-operative care. The follow-up care should include the spiritual care for moral support of the patient, to drag him out of isolation and estrangement, and make him fully participate in social activities. It is suggested that the following measures would help to rehabilitate the colostomy patients (1) mutual acquaintance with other colostomy patients if possible form a sort of club for the colostomy patient to exchange their experiences in care (2) through the team work of doctor, nurse and rehabilitation specialists, to have a sort of concerted effort for betterment of the patient.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.9 no.2
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• pp.193-199
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• 2006

Purpose: The proper diagnosis of Meckel's diverticulum (MD) is difficult and delayed because of the variety of clinical manifestations. We reviewed clinical characteristics of symptomatic MD to facilitate early detection. Methods: We analyzed retrospectively the clinical manifestations, diagnostic tools, histopathological findings, and operative findings in 58 patients with symptomatic MD. Results: The male to female ratio was 2.8 : 1. The most common symptom of MD was bleeding. Others symptoms included: vomiting, abdominal pain, irritability, abdominal distension and fever in the order of frequency. The clinical manifestations of symptomatic MD were lower gastrointestinal bleeding, intestinal obstruction, perforation, diverticulitis and hemoperitoneum, in the order of frequency. The causes of intestinal obstruction were intussusception, internal hernia, band, volvulus, invagination, in the order of frequency. Seventy five percent of patient with MD were diagnosed prior to 5 years of age. The most frequently used diagnostic tool was the Meckel's scan. The diverticulum was located 2 cm to 120 cm proximal to the ileocecal valve. The length of the diverticulum ranged from 1 cm to 10 cm and 94% were less than 5 cm. The most common ectopic tissue found in the MD was gastric mucosa. Ileal resection was more frequently performed than diverticulectomy. Conclusion: In cases of unexplained gastrointestinal bleeding, obstruction and repeated intussusception, the meckel's scan, ultrasound and computed tomography shoud be considered to rule out MD, and if clinically necessary, an exploratory laparotomy when needed.

• Advances in pediatric surgery
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• v.16 no.1
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• pp.1-10
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• 2010

The members of the Korean Association of Pediatric Surgeons conducted a retrospective study of two hundred and twenty-two cases of intestinal atresia for the period from January 1, 2007 to December 31, 2009. Seventeen hospitals were involved. There were 76 duodenal, 65 jejunal, and 81 ileal atresias (3 colonic). The male to female ratio was 0.85:1 in DA and 1.34:1 in JIA. Ninety-four patients(43.3 %) were premature babies (DA 40.3 %, JA 64.6 %, IA 28.8 %), and 70 babies (32.0 %) had low birth weight (DA 38.7 %, JA 44.4 %, IA 16.0 %). Antenatal diagnosis was made in 153 cases (68.9 %). However, 27 infants (17.6 %) with antenatal diagnosis were transferred to the pediatric surgeon's hospitals after delivery. Maternal polyhydramnios was observed in 81 cases (36.59 %) and most frequent with proximal obstruction. In forty-four cases (19.8 %), only simple abdominal film was taken for diagnostic study. The associated malformations were more frequently observed in DA - 61.8 % in DA and 22.6 % in JIA. Meconium peritonitis, small bowel volvulus and intussusception were more frequently associated with ileal atresia. The overall mortality rate was 3.6 %. (Abbreviations: DA;duodenal atersia, JA;jejunal atresia, JIA;jejunoileal atresia, IA;ileal atrsia).