Gender flip-flop association between genetic variations of NEDD4L and metabolic syndrome in the Kazakh general population.

Genetic variation is thought to contribute to etiology of metabolic syndrome (MS). Neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) is a candidate gene for MS. This study investigated the relationship between variations of NEDD4L and MS in the Kazakh, which is an ideal population to study the genetic mechanisms of complex diseases such as MS. We screened the promoter and exons of NEDD4L in 48 Kazakh individuals with MS to identify representative variations. By genotyping the representative variations [271420T>C (rs2288774), 271454A>G (rs2288775), and 296921-296923delTTG] in the Kazakh general population, we conducted a case-control study. In female subjects, the distribution of genotypes and alleles of rs2288775 and 296921-296923delTTG differed significantly between the MS pacients and controls. In male subjects, the genotype distributions of 296921-296923delTTG were significantly different between the MS pacients and controls in the dominant model (P = 0.047). After adjustment for age, smoking, and drinking, multivariate logistic regression analysis showed that rs2288775 was significantly associated with MS [for the A/A genotype, odds ratio (OR) = 3.296, P = 0.011] in female subjects. For 296921-296923delTTG, the I/D+D/D genotype was the high-risk genotype for MS in female subjects (OR = 2.791, P = 0.035) and was a protective factor for MS in male subjects (OR = 0.580, P = 0.045). The 296921-296923delTTG variation of NEDD4L is a gender flip-flop associated with MS in Kazakh individuals. The A allele of rs2288775 may be an independent risk factor for MS in Kazakh women. The results suggest that the genetic variations of NEDD4L might be involved in the pathogenesis of MS.

A standard of comparison for acute surgical necrotizing enterocolitis.

We reviewed 187 cases of documented neonatal necrotizing enterocolitis (NEC) from 1976 to 1988. Of these patients, 111 infants underwent celiotomy for acute surgical complications. The following protocol of operative indications was employed: pneumoperitoneum, localized mass, abdominal wall erythema, portal venous air, and clinical deterioration, singly or in any combination. Clinical deterioration was defined as falling platelet count, rising or falling white blood cell count, left shift in the myeloid series, persistently or progressively low pH, and increasing frequency of apnea or bradycardia. Overall mortality was 15% (28 of 187). For the patients who underwent celiotomy, all had histologic confirmation of NEC. Ninety-five had localized disease, and 16 had diffuse disease. All of the former had resection and diverting enterostomy with 85 (89.5%) surviving; none with diffuse disease survived, P less than 0.0001. Forty-one infants with NEC weighed less than 1,000 g; 25 underwent surgery and 15 (60%) survived. Fifty-one of the 159 surviving neonates (32%) developed intestinal strictures. All neonates with strictures have had resection and successful reconstruction of their gastrointestinal tract. These indications and surgical principles resulted in a high degree of diagnostic accuracy and a low degree of surgical mortality.

The effective use of intrapleural bupivacaine for analgesia after thoracic and subcostal incisions in children.

Twenty-four patients having undergone thoracotomies and subcostal incisions were treated for 24 hours with intrapleural bupivacaine with epinephrine. Vital signs, pain scores, and serum bupivacaine levels were recorded. No patient required narcotic medications and all patients obtained adequate analgesia. There were no complications of the technique or toxicity of the drug. Further studies need to be performed to extend the duration of use, to determine pharmacokinetics, and to compare with other techniques.

Complications of the Martin procedure for total colonic aganglionosis.

From 1976 to 1986 inclusive, 122 patients were cared for with Hirschsprung's disease. Sixteen of these were treated for total colonic aganglionosis, with or without small bowel involvement. The male to female ratio was 2.2:1. Two children died prior to definitive surgical therapy and two others were transferred following initial therapy. Twelve children underwent Martin's procedure with a 0% mortality rate and an 81.8% morbidity rate. This study would indicate, as do others, that even though the Martin procedure can safely be performed, the long-term results require close scrutiny. A re-evaluation of this procedure and its alternatives is necessary in order to improve long-term results.

Extensive tumor resection under deep hypothermia and circulatory arrest.

The risk of fatal hemorrhage may limit the completeness of resection in hepatic malignancies and in vascular extensions of Wilms' tumors. We have used Ein's technique of deep hypothermia (average 17 degrees C) with cardiac arrest (average 39 minutes) and exsanguination in performing five hepatic and two intravenous Wilms' tumor resections. The initial hepatic resection takes less than 15 minutes to perform in a bloodless field and the specimen is immediately examined by frozen section for determination of adequacy of margin. Additional resection is easily performed. Of four trisegmentectomies and one left lobectomy, two required additional resections. Mattress sutures were used to control hemorrhage during recirculation. One patient died from bleeding and cardiac decompensation and another from recurrence of tumor. The Wilms' tumors extended from the iliac vein into the right atrium in one child and from the right renal vein to the right atrium with extensions into the hepatic and lumbar veins in another. After nephrectomy, the atria and inferior vena cava were opened and the tumor extracted under direct vision. Both patients are well.

Results of treatment of gastroesophageal reflux with bethanechol.

Thirty-seven infants and children with gastroesophageal reflux were studied with prolonged esophageal pH monitoring before and during treatment with bethanechol. Total reflux scores improved by 69% (P = 6.47 X 10(-7) during bethanechol therapy. This improvement resulted primarily from decreases in the frequency and the duration of reflux episodes occurring more than two hours after feeding. Our findings indicate that infants and children with gastroesophageal reflux may safely be treated with bethanechol; thus the need for surgery is avoided.