Pseudomonas stutzeri bacteremia associated with hemodialysis.

Pseudomonas stutzeri bacteremia developed in six patients undergoing hemodialysis. Fever, shaking chills, nausea, and vomiting were observed. All patients recovered, although only two received specific antibiotic therapy. The infections occurred sporadically over a period of nine months. Pseudomonas stutzeri was subsequently isolated from the dialysate that circulates within the hemodialysis machine. The ultimate source was the deionized water that is combined with the liquid concentrate to form the dialysate. Pseudomonas stutzeri could be localized to the top cannister of the dialysis machine but was also isolated throughout the machine, including the bottom reservoir and the recirculating pump. The emphasis on handwashing, strict compliance with disinfection procedures, and elimination of prolonged sitting times for the filled machine after disinfection resulted in no further cases of P stutzeri infection.

Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report.

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder characterized by mental retardation, appetite dysregulation, and a high risk for obsessive-compulsive disorder (OCD). Microscopic abnormalities of the hypothalamus have been described in PWS, and oxytocin has been implicated in both appetite regulation and OCD. METHODS: Oxytocin and arginine vasopressin (AVP) were measured in the cerebrospinal fluid of 5 subjects with PWS (2 male, 3 female) and in 6 normal control subjects (all female). RESULTS: CSF oxytocin was elevated in PWS (9.2 +/- 3.9 pmol/L) as compared to normal control subjects (5.1 +/- 0.9 pmol/L, p = 0.045), a finding that was more significant when excluding male subjects from analysis (p = 0.02). AVP was not significantly different between the groups as a whole. CONCLUSIONS: These data provide further evidence for hypothalamic and oxytocinergic dysfunction in PWS. The associations between oxytocin, appetite regulation, and obsessive compulsive symptomatology in PWS warrant further investigation.

Rectal bleeding in Prader-Willi syndrome.

Individuals with Prader-Willi syndrome manifest severe skin picking behavior. We report three patients with this syndrome in whom an extension of this behavior to rectal picking resulted in significant lower gastrointestinal bleeding and anorectal disease. The recognition of this behavior is important to avoid misdiagnosing inflammatory bowel disease in this group of patients.

Prader-Willi syndrome: consensus diagnostic criteria.

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating, result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.

Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion.

Fifty-nine patients with Prader-Willi syndrome (PWS) (including three blacks) were enrolled in a behavior modification program including dietary restriction, nutritional education for self-management of food intake, and exercise. Caloric intake for most patients was 700-800 calories per day. The average stay per patient was 5 weeks with a mean weight loss of 6.6 kg. Thirty-one patients (53%) had apparently normal chromosomes compared to 25 patients (42%) with apparent 15(q12) deletion. Three patients had other chromosome abnormalities including two with mosaicism for idic(15)(q11) and one with a de novo apparently balanced translocation t(8q;18q). There were no differences in manifestations or the effects of the behavior modification program between chromosomally normal and abnormal patients. However, the mean weight loss in the 59 PWS patients was less than would have been expected based on their calculated daily caloric requirements suggesting that PWS patients have reduced caloric needs per unit of body weight compared to normal individuals. Supporting this also was that weight maintenance could be accomplished with only 1000 calories per day on the average. In general, behavioral response to the modification program was successful in that tantrum responses, while not eliminated, were reduced in frequency and severity.

Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization.

We report on our findings of 4 patients with mosaicism for a deletion of chromosome 15, most commonly associated with Prader-Willi syndrome (PWS). We examined a series of typical and atypical PWS patients in order to identify cytogenetically undetected deletions, using fluorescence in situ hybridization. In 4 of the patients analyzed we detected a deletion in 14-60% of peripheral blood leukocytes, using four commercially available probes. Our results indicate that mosaicism may play a role in the etiology of some PWS cases. These findings may be especially useful in patients who display discrepancies between clinical phenotype and established diagnostic criteria. Methylation and microsatellite polymorphism analyses of 2 patients with low-level mosaicism failed to identify the deletion. We propose that fluorescence in situ hybridization is the most effective method for detecting somatic mosaicism, since a large number of cells can be individually examined for the presence or absence of a specific deletion.

Sister chromatid exchange analysis of the 15q11 region in Prader-Willi syndrome patients.

Prader-Willi syndrome (PWS) is a sporadic disorder in which about half of cases have a 15q12 deletion. Although a small number of cases have other rearrangements involving 15q12, the rest of the cases appear to have normal chromosomes. Clinical similarities among all these patients regardless of the karyotype strongly suggests a common etiology. To investigate the nature of this common etiology, we analyzed sister chromatid exchange (SCE) at the 15q11-13 region in 10 PWS patients with the chromosome deletion, 12 PWS patients with normal chromosomes, and 11 normal control individuals. While SCE at the q11-13 region was absent on the 15q12 deleted chromosome, the percentage of SCE on chromosome 15 at q11 was statistically higher for PWS with normal chromosomes (10.1%) compared to that for normal controls (1.9%) and the normal homologue (2.2%) in deleted patients (chi 2 = 7.7982, df = 2, P less than 0.025). The data suggest relative instability of DNA at the 15q11 region in PWS patients.

Prader-Willi syndrome in black females.

Reports of Black females with Prader-Willi have been rare. This communication describes two Black females with Prader-Willi syndrome. Chromosome analysis revealed a small deletion of the proximal portion of a chromosome 15 in one case and apparently normal chromosomes in the other.

Containment of hepatitis B virus infection in a hemodialysis unit.

The unsuspected introduction of a carrier of hepatitis B virus into a hepatitis-free hemodialysis unit coincided with a routine serologic survey in early April 1976. Thus the prevalence of hepatitis B surface antigen and its antibody was known for the 42 patients and 23 personnel at risk. Control consisted of isolating the patient identified as a carrier seven days after admission. Immune globulin was not given to potentially exposed persons. During a 15-month period, only one case of icteric hepatitis B occurred, in a nurse who was probably infected through defective gloves while attending the carrier in isolation. Monthy serologic tests showed that none of the other personnel and patients became infected with hepatitis B virus. This limited spread of hepatitis B indicated that isolation of the carrier was an effective preventive measure in given setting.

Staphylococcus aureus nasal carriage and infection in patients on hemodialysis. Efficacy of antibiotic prophylaxis.

We conducted a five-year prospective controlled study of prophylaxis of Staphylococcus aureus nasal carriage and infection among patients in a hemodialysis unit. Carriers tended to have chronic colonization with a single phage type. S. aureus infections occurred significantly more frequently in carriers than in noncarriers and, in 93 percent of the infected carriers, were caused by the same phage type as that carried in the nares. Neither intravenous vancomycin nor topical bacitracin was found to be efficacious in eradicating nasal carriage. However, oral rifampin given for five days decreased S. aureus carriage over a one-month follow-up period, but within three months colonization of the nares recurred in most carriers, often with an S. aureus of the original phage type. Carriers were then randomly assigned to receive either rifampin or no prophylaxis. Rifampin was readministered at three-month intervals if culture of the anterior nares yielded S. aureus. Infections with S. aureus occurred significantly more frequently in carriers given no prophylaxis than in those given a full course of rifampin. S. aureus resistant to rifampin was isolated from the anterior nares of four patients, but these isolates were not implicated in any infections. The incidence of infection at the dialysis access site, skin, and soft tissue of patients on hemodialysis can be decreased by interventions directed at nasal carriage of S. aureus.