Monosymptomatic nocturnal enuresis in pediatric patients: multidisciplinary assessment and effects of therapeutic intervention.

BACKGROUND: Few studies manage patients with isolated monosymptomatic enuresis (MNE) with multidisciplinary evaluation and pre- and long-term post-intervention monitoring. METHODS: This was a prospective study of MNE patients, aged 6-16 years, diagnosed by multidisciplinary assessment. Of the 140 initial applicants (58.6%) with MNE, 82 were included in the study and randomized for therapeutic intervention in three treatment groups, namely: alarm, desmopressin and alarm + desmopressin. Therapeutic response was evaluated 12 months after treatment withdrawal. RESULTS: Of the 82 patients [mean age 9.5 (SD ± 2.6) years, n = 62 males (75.6%)], 91.1% had a family history of nocturnal enuresis (NE) in first-/second-degree relatives, 81.7% had constipation and 40.7% had mild-to-moderate apnea. Prior to randomization, management of constipation and urotherapy led to remission in seven of the 82 patients; 75 patients were randomized to intervention. There were 14/75 (18.7%) dropouts during the intervention, especially in the alarm group (p = 0.00). Initial complete/partial response was achieved in 56.6% of the alarm group, 70% of the desmopressin group and 64% in the combined group (p = 0.26). Continued success occurred in 70% of the alarm group, 84.2% of the desmopressin group and 100% of the combined group (p = 0.21). Recurrence occurred in 3/20 (15%) patients in the alarm group and 1/19 (5.2 %) patients of the desmopressin group. Post-intervention Child Behavior Checklist (CBCL) and PedsQL 4.0 scores showed significant improvement. CONCLUSIONS: The three therapeutic modalities were effective in managing MNE with low relapse rates; the alarm group showed the highest dropout rate. Therapeutic success was associated with improvement of behavioral problems and quality of life scores.

Copper deficiency in patients with cystinosis with cysteamine toxicity.

OBJECTIVES: To assess whether copper deficiency plays a role in the recently described cysteamine toxicity in patients with cystinosis, and to examine whether polymorphisms in copper transporters, lysyl oxidase, and/or type I procollagen genes could be responsible for the occurrence of cysteamine toxicity in a small subset of patients with cystinosis. STUDY DESIGN: Thirty-six patients with cystinosis were included: 22 with Fanconi syndrome (including 7 with cysteamine toxicity), 12 after renal transplantation, 1 receiving hemodialysis, and 1 with ocular cystinosis. Serum copper and ceruloplasmin levels and urinary copper/creatinine ratio were measured. Genes ATP7A and CTR1 (encoding copper transporters), LOX (encoding lysyl oxidase), and COL1A1 and COL1A2 (encoding type I procollagen) were analyzed in patients with (n = 6) and without (n = 5) toxicity. Fibroblast (pro)collagen synthesis was compared in patients with (n = 3) and those without (n = 2) cysteamine toxicity. RESULTS: All 22 patients with Fanconi syndrome had increased urinary copper excretion. Serum copper and ceruloplasmin levels were decreased in 9 patients, including all 7 patients with cysteamine toxicity. No specific sequence variations were associated with toxicity. All fibroblasts exhibited normal (pro)collagen synthesis. CONCLUSION: Patients with cystinosis with cysteamine toxicity demonstrate copper deficiency. This can cause decreased activity of lysyl oxidase, the enzyme that generates the aldehydes required for collagen cross-linking. Thus, copper supplementation might prevent cysteamine toxicity.

Síndrome poliúrico / Poliuric syndrome

Se sospecha Síndrome Poliúrico (SP) cuando el volumen urinario excede en 2 a 3 veces lo esperado para la edad o cuando a raíz de una deshidratación o restricción hídrica no se produce concentración urinaria adecuada. El volumen y la osmolaridad de los líquidos orgánicos se regulan con gran precisión gracias a la actividad de la hormona antidiurética (HAD), producida en el eje hipotálamo hipofisiario, que maneja la permeabilidad del agua de los túbulos distales y colectores renales. El SP se clasifica en dos grandes grupos: 1) con niveles plasmáticos bajos de HAD (diabetes insípida central DIC o neurogénica y polidipsia primaria) y 2) con niveles plasmáticos normales de HAD (diuresis osmótica y diabetes insípida nefrogénica DIN). El diagnóstico diferencial se hace con la prueba de deprivación acuosa y el tratamiento consiste en reemplazo hormonal con HAD en DIC y en la DIN reducción del aporte calórico proteico con la ingesta libre de agua, más diuréticos tiazídicos y antiinflamatorios. En el presente artículo se hace una revisión actualizada del SP.

Evidence against a synergistic effect of desmopressin with conditioning in the treatment of nocturnal enuresis.

OBJECTIVE: To test the hypothesis that desmopressin facilitates acquisition of continence, we aimed to establish whether, in children with nocturnal enuresis who are desmopressin nonresponders, adjunct desmopressin increases the rate of sustained continence after treatment with a conditioning alarm. Study design Patients with nocturnal enuresis (n=358; age range, 6-16 years) completed a 4-week "run-in" course of intranasal desmopressin (20-40 microg). Of these, 207 defined as nonresponders (<50% reduction in wet nights) were randomly assigned to receive either desmopressin (n=101) or placebo (n=106) nasal spray, together with conditioning alarm therapy for 8 weeks. Principal outcome measures were remission (28 continuous dry nights) and relapse (>2 wet nights in 2 weeks after having achieved remission). RESULTS: Remission rates were similar in both groups (51.5% desmopressin, 48.1% placebo; 95% CI on difference, -10%, 17%; P=.63), and relapse rates were not significantly different (13.5% vs 5.9%; 95% CI on difference, -3.7%, 19%; P=.19). Although remission rates were similar, children treated with desmopressin had significantly more dry nights during treatment than those in the placebo group. CONCLUSIONS: Desmopressin did not act synergistically with alarm treatment to achieve remission. Therefore, we infer that in partial or nonresponders, desmopressin does not enhance learning.

Hemostatic and hemodynamic effects of vasopressin analogue DDAVP in patients with cirrhosis.

Desmopressin (DDAVP), a synthetic analogue of vasopressin, has been shown to improve the bleeding time in patients with cirrhosis. The duration of this effect and the hemodynamic changes associated with DDAVP have not been studied so far. To evaluate these issues, 14 cirrhotics with portal hypertension were studied in basal conditions and after DDAVP (0.3 uk/kg). In 8 patients, hemostatic tests were done at basal conditions and 1, 3, 6 and 24 hs after drug administration. In the remaining 6 patients, mean arterial pressure, cardiac output, portal and femoral blood flows were evaluated. Hemodynamic parameters were measured by Doppler ultrasound. DDVP caused a marked decrease in bleeding time at 1, 3, 6 and 24 hs (14 +/- 9 vs 8 +/- 3, 7 +/- 4, 6 +/- 4 and 8 +/- 4 min, respectively); the decrease was maximal and statistically significant at 6 hs (55 +/- 15%, p < 0.02) after DDAVP infusion. Bleeding time reduction was observed in every patient studied. In the hemodynamic study, DDAVP caused a mild but significant decrease in mean arterial pressure (12 +/- 8%, p < 0.05); no significant changes were observed in the rest of hemodynamic parameters studied. These findings show that DDAVP can be used to shorten the bleeding time for a period of at least 24 hs in patients with cirrhosis, without deleterious hemodynamic effects. This beneficial effect may be of potential relevance in the medical management of patients with chronic liver diseases.

Estudo prospectivo controlado comparando lomefloxacina e ampicilina mais probenecide em dose única oral no tratamento de uretrite gonocócica aguda no homem / Controlled prospective study comparing lomefloxacin and ampicilin more probenecid in a single dose in the treatment of acute gonococcal urethritis in the man

As infecçöes gonocócicas há muito constituem um fator de importância para a saúde pública, devido à sua alta prevalência na populaçäo. Torna-se, portanto, imperioso a obtençäo de tratamentos eficazes e práticos, visando a observância completa do paciente ao tratamento, a cura clínica e a interrupçäo do ciclo de transmissäo. Neste estudo comparou-se lomefloxacina e ampicilina, quanto a sua eficácia clínica, laboratorial e seus efeitos colaterais, administradas em dose única. A lomefloxacina mostrou-se superior quanto à eficácia e apresentou menos efeitos adversos em relaçäo à ampicilina.