Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: Tentative association between B37 and schizophrenia

We have genotyped unrelated French Alsatian schizophrenic and bipolar I disorder (BPD) patients and matched controls for the polymorphic CAG repeats within the genes for spinocerebellar ataxia type 1 (SCA1) and dentatorubral-pallidoluysian atrophy (B37), in order to test their possible involvement in these disorders. No alleles with abnormally expanded repeats were found in either gene in patients and controls. Differences in allele and genotype frequencies for the SCA1 CAG repeat between patients and controls were not significant, thus providing no support for its role as a possible positional candidate gene for schizophrenia and BPD in our patients. Chi square testing revealed a significant result ( P = 0.019) for an association between the B37 CAG repeat on chromosome 12p and schizophrenia. This result was more significant when only schizophrenics with a positive family history were compared with controls ( P = 0.0001). The frequencies of alleles with 14, 12, and 15 CAG repeats differed the most, respectively, between schizophrenics and controls. When choosing the median of the B37 allele distribution (15 CAG repeats) as a threshold, there were significantly more controls than schizophrenics in the group with longer alleles (15 or more repeats) and more schizophrenics with shorter alleles ( P = 0.002 by Fisher exact test). No particular genotype was associated with schizophrenia. This result possibly indicates linkage disequilibrium with another locus on chromosome 12p and therefore deserves further attention. No association was found between the B37 CAG repeat and patients with BPD. Am. J. Med. Genet. 74:324–330, 1997. © 1997 Wiley-Liss, Inc.     

Relationships between intestinal parasitosis and handedness

The aim of the study was to investigate if there is a possible relation between intestinal parasitosis and handedness in patients with suspected intestinal parasitosis. Hand preference was assessed on the Edinburgh Handedness Inventory. Stool samples were examined microscopically for the presence of parasite. In the present study right-handers had many more helminth infections and left-handers had many more protozoon infections. Lower rate of helminth infections in the present study, and higher asthma incidences in the left-handed population in literature, may be associated with different immune machinery in left-handed people than in right-handed ones.     

Behavior and quality of life measures after anesthesia for tonsillectomy or ear tube insertion in children

Background: Past research examining the psychosocial impact of general anesthesia and day case surgery on children has been hampered by a lack of valid and reliable assessment tools. Aim: The purpose of the current study was to assess the feasibility of using a well‐validated scale (i.e. the Pediatric Quality of Life Inventory Generic Core Scales Version 4.0, PedsQL) in the perioperative setting and to establish changes seen in a sample of children having day case surgery when using this scale. Method: Eighty‐nine children (aged 3–12 years) scheduled for general anesthesia for day case tonsillectomy or ear tube insertions were recruited into a prospective study in Melbourne, Australia. Parents completed the PedsQL and the Post Hospitalization Behavioral Questionnaire (PHBQ), and children completed the PedsQL (child self‐report) at baseline (preanesthesia), 7 days following anesthesia and 30 days following anesthesia. Results: The response rate at day 7 and day 30 was modest but when returned the PedsQL and PHBQ had minimal missing data. On the PedsQL, parents rated children’s physical functioning as worse at day 7 than at baseline but psychosocial functioning did not differ significantly from baseline. At 30 days, both physical and psychosocial functioning was rated by parents to be better than baseline levels. From children’s perspective, there was little evidence of a change in their physical or psychosocial functioning on the self‐report PedsQL at day 7, but by day 30 both physical and psychosocial functioning was above baseline levels. A similar pattern was observed on the PHBQ, with little difference in ratings of behavioral problems between baseline and day 7, but less behavioral problems reported at day 30 compared with baseline. Conclusions: The PedsQL is feasible for use in the perioperative setting. Future studies should take into account the possibility that deterioration of psychosocial functioning is uncommon at 1 ‐month postsurgery compared to the preoperative baseline.     

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Clinically, HSPs are divided into "pure" and "complicated" forms. In pure HSP, the spasticity of the lower limbs is the sole symptom, whereas in complicated forms additional neurological and non-neurological features are observed. Genetically, HSPs are divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) forms. Up to date, 30 different HSPs are linked to different chromosomal loci and 11 genes could be defined for AR-HSP, AD-HSP and XL-HSP. SPG11, an AR-HSP (synonym: HSP11), is a complicated HSP associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease. SPG11 has been previously linked to chromosomal region 15q13 - 15. First, we applied rigid diagnostic criteria to systematically examine 20 Turkish families with autosomal recessive HSP for characteristic features of SPG11. We detected four large Turkish families with AR-HSP and TCC consistent with SPG11. Subsequent genetic linkage analysis of those 4 families refines the SPG11 locus further down to a small region of 2.93 cM with a maximum lod score of 11.84 at marker D15S659 and will guide further candidate gene analysis.     

Papulolinear Collagenoma with Arborizing Arrangement: Report of a Case

Abstract:  Connective tissue nevi of collagen type are now classified in four major subtypes. In addition to the clinicopathological features of papulolinear collagenoma, which is considered as a variant of isolated collagen harmatoma, the case we present has a unique arborizing pattern.     

Palpable lymph nodes of the neck in Swedish schoolchildren

We studied 3592 Swedish schoolchildren, 8 or 9 years old, examined for palpable submandibular, cervical and supraclavicular lymph nodes. All children were skin tested with 2 TU PPD RT23 and with 0.1 μ g of Mycobacterium avium sensitin or 0.1 μ g of M. scrofulaceum sensitin. A total of 991 children had palpable lymph nodes in any of the three locations. Among them, 811 had lymph nodes in one location, 162 in two locations and 18 in three. In 312 children, the lymph nodes were ± 5 mm in size in any location. The most common location was submandibular. Boys had a significantly higher prevalence of palpable lymph nodes than girls. There was also seasonal variation. Children infected by atypical mycobacteria (sensitin reaction ±6 mm) did not have a higher prevalence of palpable lymph nodes than those not infected.     

Relationship between age and clinical characteristics of patients with gastric cancer

The relationship between the prognosis and age of patients with gastric cancer is controversial. To evaluate whether there is a biological characteristic specific to the age of patients, we examined the clinical characteristics of patients with gastric cancer with special reference to their age. Based on a prospective database, a retrospective study of 419 patients who underwent radical gastrectomy for cure in the past 6 years was conducted. Clinical characteristics including gender, gross appearance of the tumour (Borrmann's classification, tumour location), histopathology (depth of tumour invasion, lymph node status, Lauren's classification and degree of tumour cell differentiation) and TNM tumour stage were analysed in six different age groups (< 39, 40–49, 50–59, 60–69, 70–79, > 80 years). The mean age of the 419 patients was 64.6 years (range from 26–91) and the peak age incidence of gastric cancer (46.3%) was in the 60–69 year old age group. The male: female ratio was 4.6: 1 on the whole and male gender predominated at ages > 60. The proportion of diffuse type tumours (68.4%) by Lauren's criteria in the young age group (< 39 yrs) decreased with age (25% in the > 80 years group; P<0.001). Similarly, the proportion of poorly-differentiated tumours (89.5%) in the young age group (< 39 yrs) decreased with advancing age (P<0.001). These findings suggest that both diffuse type and poorly-differentiated tumours predominate in younger patients and, without considering the factor of delay in diagnosis, may explain the poorer prognosis demonstrated in younger patients.     

An evaluation of freestanding alcoholism treatment for Medicare recipients

The Health Care Financing Administration (HCFA) and the National Institute on Alcohol Abuse and Alcoholism (NIAAA) conducted a demonstration between 1982 and 1985 to test the feasibility of providing payments for alcoholism treatment services to Medicare and Medicaid recipients in specially selected freestanding facilities. This study of the Medicare part of the demonstration answers two questions: do freestanding facilities save money for Medicare and do their patients have lower health care utilization following imitation of treatment than patients treated in hospital-bated facilities? The statistical methodology is a logit and cluster approach. The analysis begins with a logistic regression model to predict the probability of patients seeking alcoholism treatment in either the demonstration (freestanding facility) or hospital-based cohort. The statistically significant variables from logit analysis are then used to form clusters. The health expenditure of freestanding and hospital patients are compared within homogeneous clusters. This study shows that the number of admissions, the average length of stay, and the average monthly health expenditures following the start of treatment are lower for the group treated in the freestanding facilities. The conclusion is that for some persons with alcohol problems, treatment in freestanding facilities is less costly and leads to lower subsequent health care utilization than treatment in hospitals.     

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. Recently, we described a novel form of recessive limb girdle muscular dystrophy with mild mental retardation, associated with an abnormal alpha-dystroglycan pattern in the muscle, suggesting a glycosylation defect. Here, we present evidence that this distinct phenotype results from a common mutation (A200P) in the POMT1 gene. Our findings further expand the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation.     

Serum nitric oxide metabolite levels and the effect of antipsychotic therapy in schizophrenia

BACKGROUND: Recently it was proposed that nitric oxide metabolites (NO) may have a role in the pathophysiology of schizophrenia and major depressive disorders. The present study was performed to assess changes in serum nitric oxide metabolite levels in schizophrenic patients compared with healthy controls. Our secondary aim was to further evaluate the impact of psychopharmacologic treatment on circulating NO levels not assessed previously. METHODS: Serum NO levels of patients with schizophrenia (n=20) before and after 6 weeks of treatment were compared with those of healthy controls (n=20). Severity of schizophrenia and response to treatment were assessed with positive and negative symptoms of schizophrenia. NO levels were estimated by Griess method in serum samples. RESULTS: In patients with schizophrenia, pre-treatment serum NO levels were higher than those of control subjects (39.15 +/- 18.24 vs. 25.40 +/- 5.83 micromol/L, p=0.036) and also of post-treatment values (34.41 +/- 16.35 vs. 25.40 +/- 5.83 micromol/L, p=0.049), respectively. However, no significant difference was found between serum NO levels in pre- and post-treatment values. CONCLUSIONS: Our findings of increased serum NO levels in schizophrenic patients confirmed the role of NO in the pathophysiology of schizophrenia. However, we found that antipsychotic drugs do not reveal significant effects on serum levels of NO in schizophrenia in a 6-week treatment regimen. Further studies with longer therapy periods may suggest some new clues for novel treatment strategies employing antioxidants and NOS inhibitors in schizophrenia.