Pseudo-Bernard-Soulier syndrome: thrombocytopenia caused by autoantibody to platelet glycoprotein Ib

The Bernard-Soulier syndrome is an inherited bleeding disorder that is due to a deficiency in platelet glycoprotein Ib. Bernard-Soulier platelets fail to agglutinate in response to ristocetin despite normal levels of factor VIII:von Willebrand factor. We report a patient who developed severe refractory thrombocytopenia postsurgically while receiving procainamide therapy. Thrombocytopenia was immune mediated since the patient's platelets bore high levels of antiplatelet antibody. Radioimmunoprecipitation studies demonstrated that the autoantibodies had specificity for platelet glycoproteins Ib and V as well as platelet HLA. The patient's plasma as well as purified immunoglobulin G completely inhibited the ristocetin-induced aggregation of normal platelets but did not inhibit adenosine diphosphate-induced aggregation. The laboratory studies revealed that this patient suffered from antibody-mediated thrombocytopenia with unusual characteristics that we have called pseudo-Bernard-Soulier syndrome.     

The social,economic and political impact of the global HIV/AIDS epidemic

OBJECTIVES: This paper reviews the themes emerging from reports of the many social, economic and political effects of the HIV/AIDS epidemic on individuals, nations and the world. The impact of the global HIV/AIDS epidemic has been felt in every facet of society. APPROACH: The impact of the epidemic is described in five areas: (1) challenges and changes to traditional public health approaches to infectious diseases and sexually transmitted diseases; (2) adjustments to ‘standard’ clinical research and drug regulatory practices; (3) emphasis on the importance of personal behaviors and behavioral approaches in controlling the epidemic; (4) revealing the complexity of and recognizing the need to monitor the impacts of HIV/AIDS; and (5) highlighting the difficulties of, and need for, the international responsiveness to address HIV/AIDS. The oral health community's response to the epidemic is briefly described. CONCLUSIONS: Although in its second decade, the epidemic is still in its early stages of evolution. The challenges lie in the development and perpetual evolution of strategies to respond to the epidemic locally while thinking and acting globally. The international oral health community is one of many that has played and must continue to play an active role in a multi-disciplinary effort needed to curb this epidemic.     

组织多普勒检测心室收缩功能对判断扩张型心肌病患者预后的价值

目的：评价组织多普勒显像（TDI）测定的左右心室长轴方向局部收缩参数在判断扩张型心肌病（DCM）患者预后方面的价值。方法：对48例DCM患者进行常规超声和组织多普勒检查的长期随访。根据预后将患者分为两组：A组为病情加重组（发生各种心脏事件：死亡、心脏移植或因心力衰竭加重住院治疗）21例，B组为病情稳定组（心功能保持稳定或者改善）27例。用TDI方式于心尖四腔观分别检测两组患者左室侧壁（L）、室间隔（S）和右室侧壁（R）的瓣环处（1）、乳头肌水平（3）和二者中点（2）的等容收缩期速度（is）、射血期速度（ez）和左右心室侧壁处的二、三尖瓣环的位移，检测结果进行组间比较，并与患者预后进行相关性分析。结果：TDI检测的A组的R3is、S2ez、S1is、S1ez、L2ez、L1is、右室侧壁三尖瓣位移均低于B组（P均〈0．05），并且对判断DCM患者预后有较高的敏感性和特异性。结论：TDI检测左右心室收缩速度能较准确地判断DCM患者的预后。     

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.     

Caloric test as a predictor tool of postural control in CI users

Conclusions: Balance was improved at 365 days after CI in all patients. Caloric test findings were important determinants of balance outcomes over a year after CI. Pre-operative vestibular assessment findings should be documented because postural recovery over time depends on this information. Objective: To verify the importance of the caloric test as a pre-operative predictor tool of postural control after CI surgery. Methods: Prospective observational study made with 24 post-lingual deafness patients who underwent unilateral CI surgery. Vestibular assessments: questionnaire assessing vertigo, caloric tests, rotary chair (RC) testing, and computerized dynamic posturography (CDP), were sequentially performed for all patients before and 60, 120, 180, and 365 days after CI. Results: Thirteen patients (54.2%) reported dizziness before CI. At the end of the study, dizziness remained unchanged in one (7.7%) patient, ameliorated in 11 (84.6%), and worsened in one (7.7%). Baseline caloric tests identified 29.2% patients with normal reflexes, 33.3% with unilateral areflexia or hyporeflexia, 12.5% with bilateral hyporeflexia, and 25% with bilateral vestibular loss (BVL). Most patients exhibited objective improvements in postural stability. At 365 days, the CDP condition (particularly C5) and CS were higher for caloric tests responders at baseline than for those with BVL at baseline.     

Dose-intensive melphalan with blood stem cell support for the treatment of AL amyloidosis: one-year follow-up in five patients

The morbidity and lethality of AL amyloidosis is caused by the deposition of lg light chains as fibrillar amyloid protein in vital organs, disrupting their function, and not by the generally low burden of clonal plasma cells that produce the paraproteins. Survival of patients with AL amyloidosis is no more than 1 to 2 years from the time of diagnosis with current management approaches. Clearly, more effective therapies are needed for this rapidly lethal disease. Five patients were treated with dose-intensive melphalan and blood stem cell support and followed for a period of 1 year. Patients were diagnosed with AL amyloidosis by tissue biopsy and categorized by performance status and organ involvement. Their plasma cell dyscrasias were evaluated with immunofixation electrophoresis of serum and urine specimens, quantitative serum lgs, and immunohistochemical staining of bone marrow biopsy specimens. After treatment with dose-intensive intravenous melphalan followed by infusion of autologous growth-factor- mobilized blood stem cells, clinical evaluations and plasma cell studies were repeated at 3 and 12 months. Three men and 2 women aged 38 to 53 years were treated. Median performance status (SWOG) was 2 (1 to 3), and clinical presentations included nephrotic syndrome (n = 1), symptomatic cardiomyopathy (n = 1), gastrointestinal involvement with polyneuropathy (n = 2), and hepatomegaly (n = 1). With a median follow- up of 13 months (12 to 17 months), all five patients are well and have shown stable or improved performance status and clinical remission of organ-related dysfunction, including a 50% reduction in daily proteinuria with no change in creatinine, reversal of symptoms of cardiomyopathy and reductions of posterior wall and septal thickening, reversal of polyneuropathy and gastric atony, and resolution of hepatomegaly by computed tomographic scan. In 3 of the 5 patients (60%) at 12 months after treatment, plasma cell dyscrasias could not be detected. Dose-intensive chemotherapy with intravenous melphalan and growth-factor-mobilized blood stem cell support is feasible therapy for patients with AL amyloidosis, even when there is clinical evidence of cardiac involvement. At least some patients with AL amyloidosis achieve complete remission of their plasma cell dyscrasia, improvement in performance status, and clinical remission of organ-specific disease after this form of treatment.     

Early onset of diabetic nephropathy

A 12 year old Asian girl with a four year history of poorly controlled insulin dependent diabetes mellitus developed overt diabetic nephropathy. There were no clinical features of Rabson-Mendenhall syndrome. Screening for microalbuminuria would have identified incipient diabetic nephropathy and highlighted the importance of good glycaemic control. Although screening for microalbuminuria is recommended after five years from diagnosis, it may be appropriate to undertake this annually in those with poor glycaemic control.     

Effects of female genital mutilation on birth outcomes in Switzerland

Objective  The primary aim of this study was to determine the desires and wishes of pregnant patients vis-à-vis their external genital anatomy after female genital mutilation (FGM) in the context of antenatal care and delivery in a teaching hospital setting in Switzerland.
Our secondary aim was to determine whether women with FGM and non-mutilated women have different fetal and maternal outcomes.
Design  A retrospective case–control study.
Setting  A teaching hospital.
Population  One hundred and twenty-two patients after FGM who gave consent to participate in this study and who delivered in the Department of Obstetrics and Gynaecology in the University Hospital of Berne and 110 controls.
Methods  Data for patients' wishes concerning their FGM management, their satisfaction with the postpartum outcome and intrapartum and postpartum maternal and fetal data. As a control group, we used a group of pregnant women without FGM who delivered at the same time and who were matched for maternal age.
Main outcome measures  Patients' satisfaction after delivery and defibulation after FGM, maternal and fetal delivery data and postpartum outcome measures.
Results  Six percent of patients wished to have their FGM defibulated antenatally, 43% requested a defibulation during labour, 34% desired a defibulation during labour only if considered necessary by the medical staff and 17% were unable to express their expectations. There were no differences for FGM patients and controls regarding fetal outcome, maternal blood loss or duration of delivery. FGM patients had significantly more often an emergency Caesarean section and third-degree vaginal tears, and significantly less first-degree and second-degree tears.
Conclusion  An interdisciplinary approach may support optimal antenatal and intrapartum management and also the prevention of FGM in newborn daughters.     

Extended endoscopic endonasal transsphenoidal approaches in skull base Surgery Article in Russian

The article deals with endoscopic endonasal transsphenoidal surgery, which has gained great interest among the modem trends of neurosurgery. Application of extended endoscopic endonasal transsphenoidal approaches significantly advances capabilities of transsphenoidal surgery. Pituitary adenomas and some other sellar tumors which traditionally require transcranial procedure now can be removed via endonasal route.