儿童原发性夜间遗尿症的中西医结合治疗探讨

目的：探讨儿童单症状原发性夜间遗尿症中西医结合治疗新方法。方法：对106例单症状原发性夜间遗尿症患儿在干床训练治疗的基础上,随机分为3组：弥凝组,中药组,治疗组（弥凝＋中药）,治疗8周,治疗结束时和结束后追踪3个月观察其疗效和复发率。结果：疗程结束时和追踪观察3个月后治疗组总有效率、治愈率高于弥凝组和中药组,差异有统计学意义。疗程结束后追踪3个月后治疗组复发率低于弥凝组和中药组,差异有统计学意义。结论：治疗组治疗单症状原发性夜间遗尿症明显提高了总有效率,降低了复发率,但远期疗效有待进一步追踪研究。     

Intranasal desmopressin as an adjunct to risperidone for negative symptoms of schizophrenia: A randomized,double-blind,placebo-controlled,clinical trial

Considering the role of neurohypophyseal peptides in normal development and function of higher cortical processes along with their proven abnormalities in schizophrenic patients, these pathways have recently attracted greater attention as treatment targets for schizophrenia. Desmopressin (DDAVP) is a synthetic analog of vasopressin. This study aimed to evaluate the efficacy and safety of DDAVP nasal spray as an adjunct to risperidone in improving negative symptoms of schizophrenia. In this randomized double-blind placebo-controlled clinical trial, forty patients aged 18–50 years with a DSM IV-TR diagnosis of chronic schizophrenia and a minimum score of 60 on positive and negative syndrome scale (PANSS) were equally randomized to receive DDAVP nasal spray (20 mcg/day) or placebo in addition to risperidone for 8 weeks. Patients were partially stabilized and treated with a stable dose of risperidone (5 or 6 mg/day) for at least four weeks prior to entry. Participants were rated by PANSS every two weeks and decrease in the PANSS negative subscale score was considered as our primary outcome. By the study endpoint, DDAVP-treated patients showed significantly greater improvement in the negative symptoms (P=0.001) as well as the PANSS total and general psychopathology subscale scores (P=0.005 and P=0.003; respectively) compared to the placebo group. Treatment group was the strongest predictor of changes in negative symptoms (β=−0.48, t=−3.67, P=001). No serious adverse event or fluid/electrolyte imbalance was reported in this trial. In conclusion, DDAVP nasal spray showed to be an effective and safe medication for improving negative symptoms in patients with chronic schizophrenia.     

Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease

Summary. The risk of bleeding during dental procedures may be increased in patients with Gaucher disease. We aimed to evaluate potential coagulation and platelet function abnormalities and targeted therapy accordingly. Patients with type 1 Gaucher disease who were treated at the Oral and Maxilo‐Facial surgery clinic at Sheba Medical Center between 2003 and 2010 comprised the study cohort. Data collected included disease history, enzyme treatment, platelet counts, dental therapy and outcome. Bleeding was defined as excessive bleeding during or immediately following procedure. Coagulation studies and platelet function tests including aggregometry were performed on all patients. Dental procedures (n = 14, including eight teeth extractions, two crown lengthening procedures, one cyst enucleation and three deep dental scaling) of seven patients were studied. Mean platelet count prior to procedure was 73 K ± 14.8 mm³. Patients bleeding risk score was calculated according to previous history of bleeding tendency, degree of thrombocytopenia, presence of comorbid coagulopathy and the type of dental procedure. Two patients with highest risk score received prophylactic platelet transfusions, three patients (medium‐risk) received DDAVP preprocedure and all received systemic tranexamic acid, which was the only systemic therapy for low‐risk patients. Meticulous surgical local haemostasis was applied. No excessive intra‐operative or postoperative bleeding occurred. Patients with Gaucher disease who have thrombocytopenia and abnormal platelet function tests may be safely treated if meticulous haemostasis is applied along with systemic therapy as required. Platelet transfusions are not mandatory and should be applied considering the procedure‐related risk and the patient’s calculated haematological risk for bleeding.     

Plasma von Willebrand factor multimer quantitative analysis by in-gel immunostaining and infrared fluorescent imaging

Introduction

Electrophoretic analysis of plasma von Willebrand factor (VWF) multimer distribution and infrastructure is essential for subtyping von Willebrand disease. To improve the sensitivity, precision and efficiency of this assay, we developed and validated a new in-gel infrared fluorescent VWF multimer imaging method to visualize and quantify VWF multimers directly in the agarose gel, thus eliminating electroblotting or autoradiographic steps.

Materials/Methods

VWF multimer analyses of plasma samples from 34 patients with known von Willebrand disease or acquired von Willebrand syndrome, 9 patients with acquired VWF abnormalities, 26 normal volunteer donors and 49 patient samples referred for von Willebrand factor multimer analysis were performed by both traditional autoradiographic and the new infra-red imaging methods and compared. VWF multimer image data were electronically acquired, archived and analyzed.

Results

The in-gel infrared method has a sensitivity of detecting VWF antigen as low as approximately 1.6 IU/dL, a reliable fluorescent intensity with intra- and inter-day variability (CV) of 5% and 6% respectively, and provides superior imaging resolution and shortened test turnaround time. Using intermediate resolution agarose gel electrophoresis, the infra-red method sensitively detects subtle loss of highest molecular weight von Willebrand factor multimers in plasmas with acquired VWF abnormalities and in commercial normal reference plasmas, and provides evidence of increased proteolysis of ultralarge multimers in some type 2 VWD plasmas.

Conclusions

The in-gel infrared fluorescent VWF multimer imaging method provides a sensitive, reliable, efficient and robust system to improve laboratory testing for von Willebrand disease classification.     

Identifying type Vicenza von Willebrand disease

Increased clearance of von Willebrand factor (VWF) is one of the main features of type Vicenza von Willebrand disease (VWD), a variant with plasma and platelet VWF level discrepancies and unusually large VWF multimers. Diagnosing type Vicenza VWD may not be easy, due to its heterogeneous phenotype. Here we describe the criteria we adopted to identify type Vicenza in a large group of VWD patients. Emphasizing the contribution of platelet VWF by comparison with plasma values, a first step involved selecting the candidate Vicenza patients on the basis of low or very low plasma VWF and a normal platelet VWF content. After excluding type 2A and 2B VWD patients, who may have normal platelet VWF, 18 candidates were found to meet our selection criteria. Genetic analysis revealed that 15 patients (from 5 unrelated families) were type Vicenza VWD and that all carried both G2220A and G3614A type Vicenza mutations barring one, who only had the G3614A mutation. All patients had a reduced VWF survival, and all but the patient with the G3614A mutation alone had ultralarge VWF multimers. Thus, low-plasma VWF associated with a normal platelet VWF content may be a first useful indicator for identifying type Vicenza VWD patients.