Updates on Obesity in Prader-Willi Syndrome:From Genetics to Management / 이화의대지

Prader-Willi syndrome (PWS), which is considered the most common genetic form of obesity, results from the absence of imprinted genes in the paternally derived PWS critical region located on chromosome 15q11.2−13. Infants with PWS exhibit poor sucking, neonatal hypotonia, and delayed motor milestones. These patients begin to experience hyperphagia and obesity from 2 to 3 years of age. PWS is a multisystemic disorder, and its clinical manifestations include developmental delay/ intellectual disability, behavioral problems, dysmorphic facial features, short stature, scoliosis, and endocrine abnormalities such as hypogonadism, growth hormone deficiency, hypothyroidism, and central adrenal insufficiency. Although the underlying mechanism of hyperphagia is not completely understood, hypothalamic and endocrine dysregulation is believed to be responsible for the lack of satiety and abnormal food-seeking behaviors that lead to severe obesity. The management of PWS requires a multidisciplinary team approach. Early diagnosis and comprehensive early intervention are essential to prevent the development of obesity-related morbidities, including metabolic syndrome, diabetes mellitus, obstructive sleep apnea, respiratory failure, pulmonary hypertension, and cardiovascular complications. Although several clinical trials have been conducted on the pharmacologic treatment of obesity in PWS, no drugs have demonstrated a consistently beneficial effect to date. Nevertheless, ongoing research efforts should be directed toward understanding the mechanism of the unique obesity phenotype of PWS and developing pharmacological therapies.

Intussusception Caused by Colon Cancer in Pregnancy / 대한소화기학회지

Intussusception is a common in pediatric age group. But it is rare in adults. And intussusception caused by tumor account for 1% of bowel obstructions in adult. Intussusception is an extremely rare cause of abdominal pain in pregnancy. In particular, cases of Intussusception due to colorectal cancer during pregnancy have never been reported in Korea. Our patient is a 34 years old woman who presented at 14 weeks of her second pregnancy. She presented with right lower abdominal discomfort and intermittent palpable mass which was usually spontaneously resolved. In the MRI study, pathologic asymmetric wall thickening was still noted and ileocolic intussusception was noted, and in colonoscopy, there was ulcerofungating mass around ileocecal valve which may be a leading point of intussusception. Biopsy was done. Pathologic finding was poorly differentiated adenocarcinoma. Under the patient agreement, we performed dilatation and curettage and laparoscopic right hemicolectomy and lymph node dissection. Now she is receiving a FOLFOX chemotherapy.

Intussusception Caused by Colon Cancer in Pregnancy / 대한소화기학회지

Intussusception is a common in pediatric age group. But it is rare in adults. And intussusception caused by tumor account for 1% of bowel obstructions in adult. Intussusception is an extremely rare cause of abdominal pain in pregnancy. In particular, cases of Intussusception due to colorectal cancer during pregnancy have never been reported in Korea. Our patient is a 34 years old woman who presented at 14 weeks of her second pregnancy. She presented with right lower abdominal discomfort and intermittent palpable mass which was usually spontaneously resolved. In the MRI study, pathologic asymmetric wall thickening was still noted and ileocolic intussusception was noted, and in colonoscopy, there was ulcerofungating mass around ileocecal valve which may be a leading point of intussusception. Biopsy was done. Pathologic finding was poorly differentiated adenocarcinoma. Under the patient agreement, we performed dilatation and curettage and laparoscopic right hemicolectomy and lymph node dissection. Now she is receiving a FOLFOX chemotherapy.

Clinical and Serological Findings in Patients with Toxocariasis in the Pohang Region: The Features of Toxocariasis in Pohang / 대한내과학회지

BACKGROUND/AIMS: This study was performed to investigate the clinical and serological characteristics of toxocariasis in the Pohang region. METHODS: A total of 145 patients with peripheral eosinophilia (> 450 cells/microL) were enrolled and divided into two groups based on Toxocara excretory-secretory IgG enzyme-linked immunosorbent assay (ELISA) positivity, and the clinical features and serologic markers were compared between the two groups. RESULTS: The seropositive rate of Toxocara was 62.1%. The serum total eosinophils (p = 0.038), total IgE level (p < 0.01), Dermatophagoides farinae (Df) seropositivity rate (p < 0.01), frequency of eosinophilic tissue infiltration in the lung or liver (p < 0.01), and ingestion of raw cow meat or liver (p < 0.01) were higher in seropositive patients than in seronegative patients. However, the presence of asthma and rhinitis (p < 0.01) were more frequent in seronegative patients. Among seropositive patients, positive correlations were observed between serum total IgE, total eosinophils, and the optical density value of the Toxocara IgG ELISA (p < 0.01; p = 0.015, respectively). The specific IgE to Df was significantly higher (p < 0.01) than that to Dermatophagoides pteronyssinus (Dp), suggesting a cross reaction between the Df antigen and the Toxocara antigen. CONCLUSIONS: Patients who have elevated serum total IgE and have eosinophilia without allergic disease might have toxocariasis. The lower frequency of asthma or rhinitis and a tendency for higher specific IgE to Df than that to Dp could be useful findings for the diagnosis of toxocariasis in patients with eosinophilia.