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Neuroleptic malignant syndrome and serotonin syndrome are two syndromes whose molecular bases remain poorly understood. The phenotypes of both syndromes overlap with other syndromes that have a clear genetic background, in particular RYR1-related malignant hyperthermia. Through a literature review, performed according to the PRISMA guidelines, we aimed to report the clinical features of both syndromes, and the results of genetic testing performed. 10 case series and 99 case reports were included, comprising 134 patients. A male predominance of 58% was found. The median age was 35 (range 4-84) years. Eight patients experienced recurrent episodes of rhabdomyolysis. Genetic analysis was performed in eleven patients (8%), revealing four RYR1 variants, three likely benign (p.Asp849Asn, p.Arg4645Gln, p.Arg4645Gln) and one variant of uncertain significance (p.Ala612Thr). This review underlines that a subset of patients with neuroleptic malignant syndrome and serotonin syndrome develop recurrent episodes of rhabdomyolysis. This recurrent pattern suggests a possible underlying (genetic) susceptibility. However, the genetic background of neuroleptic malignant syndrome and serotonin syndrome has only been investigated to a very limited degree so far. The increasing availability of next generation sequencing offers an opportunity to identify potentially associated genetic backgrounds, especially in patients with recurrent episodes or a positive family history.

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We have developed and validated a rapid molecular screening protocol for toxigenic Clostridium difficile, that also enables the identification of the hypervirulent epidemic 027/NAP1 strain. We describe a multiplex real-time PCR assay, which detects the presence of the tcdA and tcdB genes directly in stool samples. In case of positive PCR results, a separate multiplex real-time PCR typing assay was performed targeting the tcdC gene frame shift mutation at position 117. We prospectively compared the results of the screening PCR with those of a cytotoxicity assay (CTA), and a rapid immuno-enzyme assay for 161 stool samples with a specific request for diagnosis of C. difficile infection (CDI). A total of 16 stool samples were positive by CTA. The screening PCR assay confirmed all 16 samples, and gave a PCR positive signal in eight additional samples. The typing PCR assay detected the tcdC Δ117 mutation in 2/24 samples suggesting the presence of the epidemic strain in these samples. This was confirmed by PCR ribotyping and sequencing of the tcdC gene. Using CTA as the "gold standard", the sensitivity, specificity, positive predictive value, and negative predictive value, for the screening PCR were 100%, 94.4%, 66.7%, and 100%, respectively. In conclusion, PCR may serve as a rapid negative screening assay for patients suspected of having CDI, although the low PPV hamper the use of PCR as a standalone test. However, PCR results may provide valuable information for patient management and minimising the spread of the epidemic 027/NAP1 strain.

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OBJECTIVE: To assess the prevalence and the development of urinary incontinence in nulliparous pregnant women, both subjectively and objectively, and to investigate the relation of incontinence with the mobility of the urethro-vesical junction measured by perineal ultrasound. DESIGN: A prospective longitudinal study. SETTING: University Hospital and Martini Hospital Groningen, the Netherlands. POPULATION: A cohort of 117 nulliparous pregnant women and 27 nulliparous non-pregnant controls. METHODS: Urinary incontinence was measured by a questionnaire and by a 24-hour pad test. The position of the urethro-vesical junction and its mobility were measured by perineal ultrasound. MAIN OUTCOME MEASURE: Prevalence of urinary incontinence; mobility of the urethro-vesical junction, indicated by the displacement/pressure coefficient. RESULTS: Up to 35% of the women reported urinary incontinence in pregnancy, and 20% of the women had a positive pad test. The angle of the urethro-vesical junction angle at rest and the displacement/pressure coefficient during coughing showed a significant increasing trend during pregnancy, but no changes were seen during the Valsalva manoeuvre. No relationship was found between subjective and objective incontinence data and the position and mobility of the urethro-vesical junction. CONCLUSION: The prevalence of incontinence in nulliparous women as found by the pad test was significantly higher in pregnancy (20%) than in the non-pregnant control group (4%). Perineal ultrasound of the urethrovesical junction showed lowering of the pelvic floor occurring as early as 12-16 weeks of pregnancy. Serial measurements of the displacement/pressure coefficient suggest that the dynamic characteristics of the connective tissues of the pelvic floor remain unaltered,whereas a significant decrease in pelvic floor muscle contraction occurs. Since no relation was found between measurements of the urethro-vesical junction and incontinence, urinary incontinence in pregnancy is most likely explained by other factors.

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The relationship between age and urodynamic parameters was studied cross-sectionally in a group of 28 women in whom clinically and urodynamically both stress incontinence and detrusor instability were excluded (no proven incontinence, NPI) and in a group, matched for age, with genuine stress incontinence (GSI). At all ages the maximal urethral closing pressure (MUCP) was higher in the NPI than in the GSI group; in both groups there was, however, a similar decrease in MUCP with age. The transmission rate increased significantly with age in the NPI group; this was not found in the women with GSI. These data indicate that in older women loss of MUCP is compensated by an increase in transmission rate (presumably because of active contraction of the pelvic floor muscles); this mechanism fails in women with GSI.

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With a curved array real-time ultrasound scanning machine and the probe placed sagitally onto the vulva, symphysis, bladder, urethra and the pelvic floor can be visualized in one frame. With this technique we studied 10 women with stress incontinence and 10 control women. In both groups active contraction of the pelvic floor resulted in a similar elevation of the urethrovesical junction (UVJ). During Valsalva maneuver an equal descent of the UVJ was found in patients and controls. During coughing a significant descent of the UVJ only occurred in the patient group. This suggests that women with stress incontinence are capable of operating the pelvic floor muscles but do not use them adequately during a cough.

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A randomized double-blind prospective study on the efficacy of single-dose antibiotic prophylaxis compared cefuroxime versus metronidazole versus the combination of both agents in vaginal hysterectomy. Overall antibiotic prophylaxis was effective in abscess prevention (one abscess in 68 patients). In the metronidazole group a significantly higher grade of morbidity was observed: febrile morbidity 41% versus 4% in the two other groups; bacteriuria 73% versus 17% in the cefuroxime group, versus 13% in the combined group; urinary tract infection 23%, versus 0% in the two other groups; post-operative prescription of antibiotics 41%, versus 0% in the two other groups. Febrile morbidity and bacteriuria correlated positively with Escherichia coli and Proteus spp. These micro-organisms were recovered significantly more often from the vagina of patients in the metronidazole group. Cefuroxime was successful, metronidazole failed in the prevention of minor morbidity. We could not observe any effect from the addition of metronidazole to the cefuroxime prophylaxis.

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A randomized prospective study compared the efficacy of a three-dose perioperative course of intravenously administered cefuroxime and metronidazole versus suction drainage of the vaginal vault for preventing postoperative infection in abdominal and vaginal hysterectomies. In vaginally operated patients, a significant difference in the rate of vaginal cuff abscess formation was found between the drain group and the antibiotic group (33 versus 0%). In the abdominally operated patients, no significant difference was found (7 versus 0%). The rate of cystitis was not influenced by the prophylactic method. A positive correlation was found between Bacteroides sp isolated from the vaginal fluid and vaginal cuff abscesses in the vaginally operated women. The complications of infection are explained by the decrease in host defense, occurring more frequently in patients treated with the vaginal approach than with the abdominal technique.

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