No abstract available.
Uterus*

13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males have genital and anorectal malformations. We report a case of 13q- syndrome male infant with many of afore mentioned features including imperforate anus, penoscrotal inversion, dolichocephaly, large low set ears, micrognathia, bifid scrotum with arthrogryposis, diagnosed by chromosomal analysis using synchronized high resolution G-banding technique which revealed of 46, XY, del(13) (q22) in all 20 metaphases. Echocardiogram and kidney sonogram were normal.
Anus, Imperforate ; Arthrogryposis* ; Chromosomes, Human, Pair 13 ; Coloboma ; Ear ; Heart ; Humans ; Infant ; Kidney ; Male ; Metaphase ; Microcephaly ; Muscle Hypotonia ; Retinoblastoma ; Scrotum

PURPOSE: The identification of specific behaviors conducive to overeating or inactivity is the cornerstone of obesity management. The Committee on Nutrition of the Korean Pediatric Society developed parent and self-reporting questionnaires about eating behavior and physical activity in 2006. The aim of this study was to evaluate the usefulness of the questionnaires in assessing modifiable lifestyle factors related to obesity. METHODS: A retrospective chart review was performed for 177 children (6-11 years old) and 134 adolescents (12-16 years old) from 10 hospitals between May 2006 and January 2007 who had completed parent or self-reporting questionnaires. Cases were divided into normal and overweight groups at or above the age-gender-specific 85th percentile based on 2007 Korean national growth charts. RESULTS: Compared to children, the adolescents tended to have a significantly more sedentary lifestvle and inappropriate dietary behaviors significantly (P<.05). Overweight mothers were significantly associated with overweight children and adolescents (P<.05). Being overweight was significantly associated with a family history of adult diseases for children and adolescents (P<.05). Inappropriate eating behaviors (strong appetite, eating fast, eating until they were full, binge eating, favoring greasy foods) were associated with being overweight in children and adolescents. Sedentary activity such as TV viewing and using a computer were significantly associated with overweight in children and adolescents (P<.05). CONCLUSION: Intervention to modify obesity-related lifestyle factors is needed before adolescence. These questionnaires are useful in identifying modifiable lifestyle factors and in individual counseling for overweight children and adolescents in pediatric clinics.
Adolescent ; Adult ; Appetite ; Bulimia ; Child ; Counseling ; Eating ; Feeding Behavior ; Growth Charts ; Humans ; Hyperphagia ; Life Style ; Mothers ; Motor Activity ; Obesity ; Overweight ; Parents ; Surveys and Questionnaires ; Retrospective Studies

OBJECTIVE: To determine of the effectiveness of uterine arterial embolization as a primary therapy in the management of symptomatic leiomyomas. MATERIALS AND METHODS: Uterine arterial embolization was performed in 23 patients (age range, 27-50 years) who complaint menorrhagia, bulk-related symptoms(frequency of urination, sensation of pressure, sensation of mass), or both, with leiomyomas. The effectiveness of the therapy was evaluated in the view of symptomatic relief and the patients' acceptance with ultrasonography, 3 months later. RESULTS: Sixteen (89%) of 18 patients reported marked improvement in their abnormal bleeding. Ten (90%) of 11 patients with bulk-related symptoms reported marked improvement in these symptoms. Follow-up ultrasonographic examination showed a mean 21% reduction in uterine size and mean 39% reduction in leiomyoma size. CONCLUSION: Utrine arterial embolization is an effective therapy in the management of symptomatic leiomyomas and may prove to be a valuable alternative to myomectomy, hysterectomy, or other surgical procedures.
Female ; Follow-Up Studies ; Hemorrhage ; Humans ; Hysterectomy ; Leiomyoma* ; Menorrhagia ; Sensation ; Ultrasonography ; Urination

Sunitinib as a multitarget tyrosine kinase inhibitor is one of the anti-tumor agents, approved by the United States Food and Drug Administration to use treat gastrointestinal stromal tumor and metastatic renal cell carcinoma. The agent is known to commonly induce adverse reactions such as fatigue, nausea, diarrhea, stomatitis, esophagitis, hypertension, skin toxicity, reduciton in cardiac output of left ventricle, and hypothyroidism. However, it has been reported to rarely induce adverse reactions such as nephrotic syndrome and irreversible reduction in renal functions, and cases of intestinal perforation or pneumatosis interstinalis as such reactions have been consistently reported. In this report, a 66-year old man showing abdominal pain had renal cell carcinoma and history of sunitinib at a dosage of 50 mg/day on a 4-weeks-on, 2-weeks-off schedule. Seven days after the third cycle he was referred to the hospital because of abdominal pain. Computed tomography showed pneumoperitoneum with linear pneumatosis intestinalis in his small bowel. The patient underwent surgical exploration that confirmed the pneumatosis intestinalis at 100 cm distal to Treitz's ligament. We report a rare case of intestinal perforation with pneumatosis intestinalis after administration of sunitinib to a patient with metastatic renal cell carcinoma.
Aged ; Antineoplastic Agents/adverse effects/*therapeutic use ; Carcinoma, Renal Cell/*drug therapy ; Drug Administration Schedule ; Humans ; Indoles/adverse effects/*therapeutic use ; Intestinal Perforation/*diagnosis/etiology/surgery ; Kidney Neoplasms/*drug therapy ; Lung/radiography ; Male ; Pneumatosis Cystoides Intestinalis/*diagnosis/etiology ; Positron-Emission Tomography ; Pyrroles/adverse effects/*therapeutic use ; Tomography, X-Ray Computed

Background: and Purpose A multifactorial antiepileptic mechanism underlies the ketogenic diet (KD), and one of the proposed mechanisms of action is that the KD inhibits the mammalian target of rapamycin (mTOR) pathway. To test this clinically, this study aimed to determine the efficacy of the KD in patients with pathologically confirmed focal cortical dysplasia (FCD) due to genetically identifiable mTOR pathway dysregulation. Methods: A cohort of patients with pathologically confirmed FCD after epilepsy surgery and who were screened for the presence of germline and somatic mutations related to the mTOR pathway in peripheral blood and resected brain tissue was constructed prospectively. A retrospective review of the efficacy of the prior KD in these patients was performed. Results: Twenty-five patients with pathologically confirmed FCD and who were screened for the presence of detectable somatic mTOR pathway mutations had received a sufficient KD. Twelve of these patients (48.0%) had germline or somatic detectable mTOR pathway mutations. A response was defined as a ≥50% reduction in seizure frequency. The efficacy of the KD after 3 months of dietary therapy was superior in patients with detectable mTOR pathway mutations than in patients without detectable mTOR pathway mutations, although the difference was not statistically significant (responder rates of 58.3% vs. 38.5%, p=0.434). Conclusions A greater proportion of patients with mTOR pathway responded to the KD, but there was no statistically significant difference in efficacy of the KD between patients with and without detectable mTOR pathway mutations. Further study is warranted due to the smallness of the sample and the limited number of mTOR pathway genes tested in this study.