Meningitis in a newborn infant with urosepsis, negative blood cultures and initially normal cerebrospinal fluid findings.

This case presentation supports the observation that initial cerebrospinal fluid findings can be normal in newborn infants with sepsis syndrome who then develop evidence for meningeal involvement. Therefore, if initial lumbar puncture results are negative, a repeat lumbar puncture is recommended to look for meningitis in newborns that are critically ill with sepsis syndrome.     

External duodenal fistula following closure of duodenal perforation.

AIM: Retrospective analysis of experience with management of external duodenal fistula (EDF) without using total parenteral nutrition (TPN). METHOD: Medical records of 31 patients with EDF following closure of duodenal ulcer perforation, treated over a 7-year period (1994-2001), were studied. Twenty-one patients (68%) had evidence of sepsis at presentation or during the course of treatment. None could afford TPN for optimum time. All patients received hospital-based enteral nutrition through nasojejunal tube, besides supportive medical treatment and/or surgery. Peritonitis or failure to insert nasojejunal tube for enteric alimentation led to early surgery. RESULTS: Two patients died of septicemia and multi-organ failure within 48 hours of admission. Fourteen patients (48.3%) initially received conservative treatment (Group I); six of them later required surgery. Fifteen patients (51.7%) underwent early surgery due to peritonitis (n=9) or failure to establish enteral feeding (n=6) (Group II); wound infection, intra-abdominal abscess and septicemia were more common in these patients than those in Group I. Survival rate was higher in Group I than in Group II (86% versus 40%; p< 0.05). Septicemia and gastrectomy were the independent factors associated with high mortality. CONCLUSIONS: EDF can be satisfactorily managed without TPN. Successful placement of enteral feeding line, supportive treatment and delayed surgery can achieve survival in 85% of patients. Minimum intervention is recommended when early surgery is performed in peritonitis or to establish enteral feeding line.     

Localization of a gene for otosclerosis to chromosome 15q25-q26

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi- generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease- causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.