Volumetric alterations of the orbitofrontal cortex in autism

Recent evidence has implicated the orbitofrontal cortex (OFC) in the pathophysiology of social deficits in autism. An MRI-based morphometric study of the OFC was conducted involving 11 children with autism (age range 8.1-12.7 years) and 18 healthy, age-matched controls (age range 8.9-12.8 years). Decreased grey matter volume in the right lateral OFC in the patient group was found, and correlations were observed between social deficits and white, but not grey, matter structures of the OFC. These findings support the role of OFC in autism and warrant further investigations of this structure using structural and functional methodologies.     

Gender-specific associations of depression with positive and negative symptoms in acute schizophrenia

This clinical study analyzed gender-specific relationships of depression with other psychopathological and clinical variables in hospitalized patients with schizophrenia. During clinical routine treatment 119 inpatients with acute schizophrenia (DSM-IV) were investigated with the Calgary Depression Rating Scale for Schizophrenia (CDSS), the Clinical Global Impressions (CGI), and the Positive and Negative Syndrome Scale (PANSS). Depression scores of 77 male and 42 female patients (mean age 31.6+/-10.3 years) were related to background variables and to positive and negative symptom scores. Mean CDSS (5.8+/-5.6) and PANSS scores (total 76.9+/-22.1, positive symptoms 17.6+/-7.6, negative symptoms 20.5+/-7.8) were not significantly different between males and females. In females, depression was independently associated with higher negative symptom scores (P<0.01) and younger age (P<0.05) whereas in males positive symptoms (P<0.05) and short hospitalization (P<0.05) were the main factors associated with depression. The study revealed gender-specific differences in the relationship of depression with negative and positive symptoms.     

Cannabis induces different cognitive changes in schizophrenic patients and in healthy controls

It is known that 60 to 80% of schizophrenic patients show deficits in cognition. There may be an increase in these deficits as a result of additional regular use of cannabis. The aim of the study was to evaluate the effect of chronic cannabis consumption on the cognitive functions of schizophrenic patients and healthy control subjects after a minimum abstinence time of 28 days. The study sample consisted of 39 schizophrenics (19 cannabis-abusers and 20 non-abusers) and 39 healthy controls (18 cannabis-abusers, 21 non-abusers). In a 2x2-factorial design (Diagnostic Groups [healthy controls, schizophrenic patients]xCannabis abuse [without, with]) with diagnostic group and cannabis consumption considered between-subject factors) we tested the hypothesis that dually diagnosed patients (i.e. suffering both from schizophrenia and cannabis abuse) perform worse in neuropsychological tests than schizophrenic patients without cannabis abuse. On the whole, schizophrenic patients performed worse than healthy control subjects. Surprisingly, rather than deteriorating neuropsychological performance, regular cannabis abuse prior to the first psychotic episode improved cognition in some tests. This was even more pronounced when regular consumption started before the age of 17. On the other hand, cannabis use deteriorated test performance in healthy controls, especially in cases when regular consumption started before the age of 17. To sum up, regular cannabis abuse has a different effect on cognitive function in schizophrenic patients and healthy controls.     

Association between the MnSOD Ala-9Val polymorphism and development of schizophrenia and abnormal involuntary movements in the Xhosa population

Reactive oxygen species (ROS)-mediated damage has been hypothesized to play a role in the development and poor outcome of schizophrenia, as well as the development of neuroleptic-induced abnormal involuntary movements. Recently, the functional polymorphism (Ala-9Val) in the manganese superoxide dismutase (MnSOD) gene (part of the antioxidant defense mechanism) was found to be associated with schizophrenia in a Turkish population. This study was aimed at replicating this finding in a Xhosa population. In addition, the role of Ala-9Val in abnormal involuntary movement and tardive dyskinesia development in the Xhosa population was also investigated. The schizophrenic patient group (n=286) and a healthy control group (n=243) were genotyped for the Ala-9Val polymorphism using heteroduplex-single stranded conformational polymorphism (HEX-SSCP) analysis. No significant difference in genotype or allele frequency could be observed between the schizophrenia and control group (P=0.294 and P=0.528 respectively). In addition no association could be found between the polymorphism and symptom severity (SANS and SAPS). The Xhosa schizophrenia patient group with abnormal involuntary movements (n=54) and a subgroup with tardive dyskinesia (n=30) was found to significantly differ in Ala-9Val genotype frequency (P=0.008 and P=0.011 respectively) compared to the Xhosa schizophrenia patient group without abnormal involuntary movements (n=204). However, no significant difference was found for the allele frequencies (P=0.955 and P=0.161). Further, using ANCOVA no association was found between AIMS score and genotype in the group with abnormal involuntary movements (P=0.1234). However, in the patient group with tardive dyskinesia an association was observed between genotype and AIMS score (P=0.0365). These results do not support a major role of the MnSOD Ala-9Val polymorphism in the development of schizophrenia or symptom severity in the Xhosa population. Yet it seems to be involved in the development of abnormal involuntary movements and tardive dyskinesia and may even modulate the severity of tardive dyskinesia.     

Cognitive dysfunctions in patients with obsessive-compulsive disorder compared to the patients with schizophrenia patients: relation to overvalued ideas

OBJECTIVE: The clinical overlaps between schizophrenia and obsessive-compulsive disorder (OCD) seem to be related to thought disorders involving obsessions, overvalued ideas, and delusions. Overvalued ideas are beliefs falling in between obsessions and delusions and are stronger than obsessions but weaker than delusions. The goal of the present study was to compare patients with OCD to those with schizophrenia in terms of cognitive functions and to relate cognition and overvalued ideas in OCD. METHODS: Twenty three patients with OCD (free of depression), 24 patients with schizophrenia, and 22 healthy subjects matched to patients in age, gender, education, and hand dominance were included in the study. All subjects were administered neurocognitive tests assessing verbal learning-memory, executive functions, verbal fluency, attention and verbal working memory. RESULTS: Patients with schizophrenia showed worse performance on cognitive tests than the OCD and control groups. The severity of overvalued ideas was significantly correlated to cognitive functions in the OCD group. There were no significant differences in cognitive functions between schizophrenia group and the OCD patients who had higher scores on the Overvalued Ideas Scale (OVIS). CONCLUSION: Overvalued ideas in OCD may be related to cognitive dysfunctions in OCD and this subtype of OCD may have similar characteristics to schizophrenia in terms of cognition.     

Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman

We reviewed the clinical profile of our neonates diagnosed to have inborn errors of metabolism (IEM) by Tandem Mass Spectrometry (TMS) over a seven years period, and compared the results with published reports. We also attempted to evaluate various clinical situations wherein the screening test would yield a high pick up rate. Among the 166 neonates studied (10 aged 1 day, 79 aged 2-7 days and 77 aged 8-28 days), significant abnormalities on TMS suggestive of IEM were detected in 38 babies (23%), most common diseases diagnosed were maple syrup urine disease (10 neonates), propionic acidemia (8 neonates), urea cycle diseases (6 neonates) and isovaleric acidemia (4 neonates). The detection incidence was calculated to be one positive case out of every 4 to 5 babies tested. A high prevalence of parental consanguinity and high level of positive family history of affected siblings were the highlights of this study. The major clinical situations where testing was helpful were (a) unexplained acute neonatal encephalopathy, (b) positive family history of known or suspected IEM and (c) new born presenting with abnormal serum biochemistry suggestive of IEM.     

原发性输尿管肿瘤28例临床分析

目的探讨原发性输尿管肿瘤早期诊断的途径,以提高早期诊治率。方法回顾分析28例输尿管肿瘤临床资料,比较超声检查、静脉尿路造影（IVU）、逆行尿路造影检查（RU）、螺旋CT、MRI、微创腔镜检查、尿液脱落细胞检查等诊断意义。结果阳性率较高的术前检查有RU、螺旋CT、MRI、腔镜检查。28例均行手术治疗,手术以肾、输尿管全长加膀胱袖状或膀胱部分切除为主,共19例。术后病理报告移行细胞癌27例,腺癌1例,其中TI-2肿瘤8例。获得随访25例。1990年至1999年14例存活1、2、3、4、5、6年者分别为1、5、3、2、2、1例。2000年至2007年14例,失访4例,术后存活1、3年者各2例,6例未满5年者仍在随访中。结论早期联合超声、IVU、RU、螺旋CT三维重建、MR]等检查分析是提高早期诊断率的有效途径。一经诊断,尽快手术治疗。     

微量白蛋白测定血尿患儿的早期诊断价值

目的：探讨微量白蛋白测定血尿患儿的早期诊断价值。方法：根据试验要求,均留取晨尿送检,以免疫比浊法定量测定尿微量白蛋白。结果：急性肾炎、肾病组尿微量自蛋白均较正常对照组明显升高（P〈0．01）,而尿路感染、一过性血尿、肾外感染与正常对照组之间差异无显著性（P〉0．05）。结论：微量白蛋白测定可作为血尿待查的早期主要诊断指标。     

Pro-active provision of drug information as a technique to address overdosing in intensive-care patients with renal insufficiency

Purpose  To correct overdosing of drugs requiring adjustment based on renal function in intensive-care patients. Methods  In a prospective intervention study, we estimated individual glomerular filtration rate and assessed whether medication required dose adjustment based on renal function. Senior clinicians received a structured report containing recommendations as to whether and how to adjust dosage in the individual patient (intervention). Prevalence of overdosed drugs (primary outcome), extent of overdoses, and reasons for nonacceptance of recommendations (secondary outcomes) were assessed. Results  Of 138 screened intensive-care patients, 68 (49%) had renal impairment, and 110 (14%) of the 805 prescribed drugs required consideration of renal function. A potential overdose was found in 53/110 drugs (48%) and this rate decreased to 26/110 (24%, P < 0.001) after the intervention. The average extent of overdose was reduced from 54% before to 31% after the intervention (P < 0.001). The main reasons expressed by the physicians for nonacceptance of recommendations were a large therapeutic index or minor overdoses of the involved drugs. Conclusions  In intensive-care patients, overdosing of drugs requiring adjustment based on renal function is still very common. Drug information counselling significantly decreased the prevalence and extent of overdose.