Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.

BACKGROUND: There is an increasing recognition that the pathophysiology of mental disorders could be the result of deregulation of synaptic plasticity with alterations of neurotrophins. The valine (Val)66-to-methionine (Met) variant, located in the pro brain-derived neurotrophic factor (BDNF) sequence, has been extensively studied through linkage and association approaches in several psychiatric disorders. METHODS: We performed a meta-analysis restricted to individual case-control studies in different categories of mental disorders and BDNF Val66Met polymorphism. We included data from 39 case-control studies encompassing psychiatric phenotypes: eating disorders, substance-related disorders, mood disorders, and schizophrenia, among others. RESULTS: The association of Val66Met was confined to three diagnoses: substance-related disorders, eating disorders, and schizophrenia. The Val/Met and the Met/Met genotypes increase the risk for eating disorders up to 33%, while these same genotypes confer a 21% protective effect in substance-related disorders. The homozygous carriers Met/Met showed a 19% increased risk of schizophrenia with respect to the heterozygous state. CONCLUSIONS: The study confirms the association of Val66Met to substance-related disorders, eating disorders, and schizophrenia. It remains to be determined if other variants in tight linkage disequilibrium with Val66Met could configure an extended functional haplotype that would explain observed discrepancies in risk estimations across studies.     

抗心磷脂抗体与脑血管病关系的研究

目的:探讨抗心磷脂抗体(aCL)与脑血管病(CVD)的关系。方法:检测266例缺血性脑血管病(ICVD)患者和73例脑出血(CH)患者血清aCL。结果:ICVD患者aCL阳性率高于对照组(P<0.01),且IgG型aCL比IgM型aCL阳性率升高(P<0.01)。CH患者aCL阳性率高于对照组(P<0.01)。ICVD组aCL阳性率与CH组比较无显著性差异(P>0.05),ICVD组、CH组和对照组不同性别间aCL阳性率无显著性差异(P>0.05)。结论:aCL可作为CVD危险性增加的指标,对CVD的预测有一定意义,包括ICVD和CH患者,aCL阳性率男女性别之间无差异。     

Bilateral perioral sensory symptom after unilateral stroke: Does it have a localizing value?

Bilateral perioral sensory dysfunction due to unilateral cerebral lesion is rare, and has been thought to be caused by midline brainstem lesions. Six patients are described herewith, with bilateral perioral sensory symptoms due to unilateral strokes that do not involve the mid-brainstem region. Brain-computed tomographic scan and magnetic resonance imaging demonstrated unilateral cerebral strokes in the thalamus, posterior limb of the internal capsule, basal ganglia, fronto-parietal cortex and the insular-frontal subcortical area. This observation suggests that bilateral perioral sensory symptoms do not have a localizing value. Possible pathogenetic mechanisms for this sign are discussed.     

Physiological neutrophilia of pregnancy is not associated with a rise in plasma granulocyte colony-stimulating factor (G-CSF)

A patient with neutropenia and life-threatening infections secondary to T-γ lymphoproliferative disease, who did not respond to treatment with recombinant human G-CSF (filgrastim), was treated with filgrastim plus cyclosporine A (CyA). The patient achieved a good response in the absolute neutrophil count and subsequently required a dose reduction in the filgrastim. The patient was eventually discontinued from the CyA but continues on filgrastim alone. While on therapy, the large granular lymphocytes disappeared from the circulation and the beta-TCR rearrangement, which was present prior to beginning therapy, became undetectable. The patient had no significant toxicity to the CyA or the filgrastim and he has not experienced any serious infections or required hospitalization. Filgrastim has proven to be relatively nontoxic and of some benefit to patients with this disease and should probably be utilized first when treatment is necessary. However, if improvement is not observed, these findings suggest that a trial of the combination of CyA plus filgrastim may be beneficial.     

Assessment of tardive dyskinesia by means of digital image processing

A wireless device for the assessment of tardive dyskinesia by means of digital image processing is presented. Four skin-cream dots placed around the subjects' mouth are recorded by a video camera. The image is passed to a framegrabber with a signal processor, where it is converted from analogue to digital. A fast spot-detecting algorithm implemented on the signal processor tracks the dots and passes the information to a personal computer, where a Fourier transformation is performed to calculate the frequency spectrum of the movements. The device provided detailed information on the magnitude and on the frequencies of the movements. Data from a longitudinal investigation suggest a higher sensitivity and reliability than conventional rating scales to detect and evaluate abnormal perioral movements. The device might be useful for the early detection, for the longitudinal assessment (p.e. clinical trials) and in some cases for the differential diagnosis of tardive dyskinesia, thus providing a tool for both research and clinical purposes.     

Magnetic Resonance Imaging in Patients with Bone Marrow Disorders

Magnetic resonance imaging (MRI) provides a non-invasive means to evaluate a large fraction of marrow in less than one hour. Marrow disorders produce non-specific changes in marrow signal intensities which primarily reflect changes in proportions of fat and cellular elements. The pattern of these signal changes narrows the differential diagnosis, and the combination of these features with the clinical context allows interpretations which are clinically useful in many ways. These include: I) the diagnosis of avascular necrosis (and its distinction from other causes of joint pain), 2) detection of osteomyelitis, 3) differential diagnosis of hypo-plastic disorders, 4) staging of lymphomas and myeloma, 5) selection of patients for autolo-gous bone marrow transplant, 6) objective measures of marrow response to therapy, 7) detection of leukemic transformation, and 8) improved detection of marrow disease (primary or secondary) in patients with otherwise unexplained bone pain.     

The validity of a simple clinical classification of acute ischaemic stroke

The aim of the study reported here was to test the validity of a simple clinical classification of acute ischaemic stroke (Oxfordshire Community Stroke Project, OCSP) in predicting the site and size of cerebral infarction on computed tomography (CT). Consecutive patients admitted to hospital with acute ischaemic stroke were prospectively identified and classified into one of four clinical syndromes according to the OCSP classification, blind to the result of CT. The CT brain scans were classified blind to the clinical features into those demonstrating: small, medium or large cortical infarcts; small or large subcortical infarcts in the anterior circulation territory; and posterior cerebral circulation territory infarcts. A total of 108 patients were included. A recent infarct was seen. on the CT scan in 91 patients (84%), and the clinical classification correctly predicted the site and size of the cerebral infarct in 80 of these (88%; 95% confidence interval 77–92%). The positive predictive value was best for large cortical infarcts (0.94) and worst for small subcortical infarcts (0.63). The OCSP clinical classification is a reasonably valid way of predicting the site and size of cerebral infarction on CT and can, therefore, be used very early after stroke onset before the infarct appears on the scan.     

From laparoscopic training on an animal model to retroperitoneoscopic or coelioscopic adrenal and renal surgery in human

So far, laparoscopic approaches to kidney and adrenal have been limited because of their retroperitoneal location. We here report eight renal and adrenal endoscopic procedures performed in seven patients: two adrenalectomies for hyperaldosteronism, one adrenalectomy for isolated metastasis from an adenocarcinoma of the lung; two nephrectomies for end-stage infected hydronephrosis, two partial nephrectomies for small circumscribed lesions of the kidney, and one endoscopic resection for pain relief of a voluminous cyst at the kidney. The approach was transperitoneal in two cases and retroperitoneal in five cases using the retropneumoperitoneum insufflation technique. One patient was operated by a combined approach using the retro- and transperitoneal routes. All procedures were successfully completed endoscopically. The retroperitoneoscopic approach of the kidney is safe and does not interfere with the peritoneal organs. Its working space is tenuous, but allows a direct access on the kidney with good exposure of its pedicle. For adrenal surgery, the retroperitoneoscopic dissection is more difficult, because movements of instruments are often impaired by the closeness of the costal margin and the iliac crest. However, in case of difficulties we found it very convenient to switch from a retroperitoneal endoscopic approach to a combined coelioscopic and retroperitoneoscopic operation. Far from excluding each other, both approaches are complementary, particularly for difficult situations (i.e., previous peritoneal or retroperitoneal surgery).     

Renal acid excretion in early infancy

In early infancy, complex disorders of acid base metabolism are more frequent than in any other age group, with a predisposition to metabolic acidosis due to an age-related low renal capacity for acid excretion and an unphysiologically high actual renal acid load in nutrition with common formulas. Recently in preterm and small-for-gestational-age infants, persistent maximum renal net acid excretion (NAE) with subnormal or normal blood acid base status, impaired weight gain, and adaptive hormonal reactions have been observed. Incipient late metabolic acidosis is one example of a mixed disorder of acid base metabolism with maximum renal NAE in early infancy. Alkali therapy is highly effective and can be realized both on an individual basis, using urine pH screening as a diagnostic criterium for maximum renal acid stimulation, or on a general preventive level using modified standard formula with a reduced actual renal NAE similar to that seen on alimentation with human milk. From an integrated point of view, the low glomerular filtration rate and renal capacity for acid excretion beyond the developmental age of more than 44 weeks, may well be interpreted as the result of a specific adaptation to breast feeding sparing energy, and thus an evolutionary advantage for the survival of mother and child. Received July 10, 1996; received in revised form and accepted October 7, 1996