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.     

Propofol/Remifentanil Anesthesia Might Not Alter the Middle Cerebral Artery Diameter by Digital Subtraction Angiography

Neurocritical Care - Transcranial Doppler (TCD) of the middle cerebral artery (MCA) enables the measurement of the mean blood velocity (MCAVm) and the estimation of the cerebral blood flow (CBF),...     

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect

We report the case of a female patient exhibiting multiple congenital malformations including diaphragmatic hernia and heart defect. Cytogenetic studies (including karyotype, FISH and array-CGH) showed a de novo terminal deletion (6.9 Mb) on chromosome 15 in association with a recombinant X chromosome bearing a 9-Mb Xp duplication and a 46-Mb Xq deletion distal to XIST. The recombinant X chromosome was caused by a maternal inv(X)(p22.31q22.3). The X chromosome inactivation pattern was skewed in the patient suggesting a possible inactivation of the recombinant X chromosome. Considering these results, the phenotype was linked to the de novo terminal 15q deletion. These results strengthen the assumption that array-CGH should be applied to each fetus/newborn with multiple congenital malformations.     

Use of intravenous immunoglobulins in clinical practice: data from three French university hospitals

Since several years, the use of intravenous immunoglobulins (IVIg) has increased. This growth has encouraged some countries to publish guidelines. In parallel, some countries have conducted audits to know how IVIg are used in clinical practice in the light of the available guidelines. The objective of this study was to assess IVIg use in three French university hospitals in 2006. All IVIg administrations were evaluated during 6 months (12 September 2005–12 March 2006) in French university hospitals of Marseille. Different data were recorded for each administration: patient characteristics, indication, formulation and quantity. During the study period, 2802 administrations of IVIg (corresponding to a total quantity of 76 780 g) have been recorded. Four hundred and thirty‐five patients received at least one of these administrations. The five most reported indications were multifocal motor neuropathy (11.0% of total quantity), chronic inflammatory demyelinating polyradiculoneuropathy (10.2%), corticoresistant dermatomyositis (10.2%), immune thrombocytopaenia (9.9%) and primary immune deficiency (9.1%). According to available French recommendations, 70% of the IVIg use was for ‘acknowledged indications’, 9% for ‘indications to be assessed’ and 18% for ‘unwarranted indications’. The 10 most reported indications were ‘acknowledged indications’ according to available recommendations of the French expert group. Nevertheless, the two most reported indications were not approved by the French Health Products Agency (AFSSAPS) at the time of the study and were approved since.     

Low estimates of dietary acid load are positively associated with bone ultrasound in women older than 75 years of age with a lifetime fracture

Dietary acid load from Western diets may be a risk factor for osteoporosis. It can be estimated by net endogenous acid production (NEAP). No data currently exists for NEAP estimates and bone indices in the very elderly (i.e. > or = 75 y). The aim of this study was to determine the association between NEAP estimates by using the potential renal acid load (PRAL) equation and quantitative bone ultrasound (QUS) measurements at the heel [broadband ultrasound attenuation (BUA)] in Caucasian women. We assessed NEAP and QUS in 401 very elderly Swiss ambulatory women. We evaluated dietary intake and NEAP estimates with a validated FFQ. QUS was measured using Achilles (Lunar). We identified 2 subgroups: 256 women (80.6 y +/- 3; BUA, 96.8 dB/MHz) with a fracture history and the remaining 145 (79.9 y SD 2.9; BUA, 101.7 dB/MHz) without. Women who reported having suffered a fracture had lower BUA (P < 0.001) than nonfractured women but did not differ in nutrient intakes and NEAP. Lower NEAP (P = 0.023) and higher potassium intake (P = 0.033) were correlated with higher BUA, which remained significant even after adjustment for age, BMI, and osteoporosis treatment. BUA was positively correlated with calcium (P = 0.016) and BMI (P < 0.001). Women who reported no fractures had no significant correlations between nutrient intake, NEAP, and BUA. Low nutritional acid load was correlated with higher BUA in very elderly women with a fracture history. Although relatively weak compared with age and BMI, this association was significant and may be an important additional risk factor that might be particularly relevant in frail patients with an already high fracture risk.     

The effects of regular consumption of short-chain fructo-oligosaccharides on digestive comfort of subjects with minor functional bowel disorders

A comparative, randomised, double-blind trial was performed in the medical departments of five hospitals to study the effects of regular consumption of short-chain fructo-oligosaccharides (sc-FOS) on the digestive comfort of subjects with minor functional bowel disorders (FBD). In step 1, 2235 subjects were questioned to assess the incidence and intensity of digestive disorders. In step 2, 105 of these patients diagnosed with minor FBD were randomised into two groups to receive either 5 g sc-FOS or 5 g placebo (sucrose and maltodextrins) per d over a 6-week period. The incidence and intensity of digestive disorders were assessed at the end of the treatment period (day 43) using the step 1 questionnaires. A quality-of-life questionnaire was also completed at the start and end of the treatment period to assess potential effects on well-being and social performance. In step 1, 44 % of the subjects questioned presented FBD, of whom 57.1 % suffered from minor FBD. In step 2, on day 43, the intensity of digestive disorders decreased by 43.6 % in the sc-FOS group v. a 13.8 % increase in the placebo group (P = 0.026). Symptoms were experienced less frequently by 75.0 % of subjects in the sc-FOS group, while 53.8 % of controls experienced no change (P = 0.064). Using the functional digestive disorders quality of life questionnaire, the discomfort item scores increased in the sc-FOS group (P = 0.031). However, expressed as change in quality of life (improvement, worsening or unchanged), daily activities were significantly improved in the sc-FOS group (P = 0.022). Regular consumption of sc-FOS may improve digestive comfort in a working population not undergoing medical treatment.     

Cutaneous microbiol flora in 206 children with diaper dermatitis and pyodermitis]

Staphylococcus aureus (60 p. 100) and Candida albicans (50 p. 100) were mostly found in 73 cases of diaper dermatitis. They were present together in 16 out of these 73 cases. This study enables us to think this is a matter of opportunistic infection. Staphylococcus aureus (75 p. 100) and beta-hémol. Streptococcus A (28 p. 100) were found in 40 children with impetigo contagiosa. They were present together in 7 out of the 40 cases. Nephritis was never found either in those cases or in other 93 cases of pyodermitis.