Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single pedigree. Here we report a new genetic locus, XLIS, mapped by linkage analysis of five families and physical mapping of a balanced X;2 translocation in a girl with LIS. Linkage places the critical region in Xq21-q24, containing the breakpoint that maps to Xq22.3-q23 by high-resolution chromosome analysis. Markers used for somatic cell hybrid and fluorescence in situ hybridization analyses place the XLIS region within a 1 cM interval. These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, XLIS, that the milder SBH phenotype in females results from random X-inactivation (Lyonization), and that cloning of genes from the breakpoint region on X will yield XLIS.      

Head trauma among children in Reykjavík

The incidence of head trauma (ICD9 850-854) among children in the Reykjavík area, aged 0-14 years, was studied over a 5-year period, 1987-1991, using hospital records. On average, 72 children with head trauma were admitted to hospital each year, indicating an annual incidence of 1.70 per 1000 population. Fourteen percent of children admitted to hospital with head trauma suffered the more severe forms of brain injury (ICD9 851-854) (annual incidence of 0.28 per 1000). Seven children died from brain injury, indicating an annual death rate of 0.03 per 1000. Falls were the most common cause of head trauma (62%), followed by traffic accidents (19%). On average, one to two severely brain-injured children received rehabilitation each year.     

Kangaroo Mother Care, home environment and father involvement in the first year of life: a randomized controlled study

Aims:  This study tested the hypothesis that Kangaroo Mother Care creates a climate in the family, which enhances infants' performance on the developmental quotient scale.
Setting:  The largest social security hospital in Colombia with a neonatal intensive care unit.
Subjects:  At 12 months of corrected age, 194 families in the Kangaroo Mother Care group and 144 families in the Traditional Care group were available for analysis.
Interventions:  Infants were kept 24 h/day in an upright position, in skin-to-skin contact until it was no longer tolerated by the infants. Babies in the Traditional Care were kept in incubators on the Minimal Care Unit until they satisfied the usual discharge criteria.
Outcome measures:  The Home Observation for Measurement of the Environment (HOME), Father Involvement and Developmental Quotient (Griffiths) scores.
Results:  1) Kangaroo mothers created a more stimulating context and a better caregiving environment than mothers in the Traditional Care group; 2) this environment was positively correlated to father involvement and 3) the family environment of male infants was most improved by Kangaroo Mother Care.
Conclusion:  Kangaroo Mother Care has a positive impact on home environment. The results also suggest, first, that both parents should be involved as direct caregivers in the Kangaroo Mother Care procedure and secondly, that this intervention should be directed more specifically at infants who are more at risk at birth. The Kangaroo Mother Care intervention could be an excellent means to ensure parents' mature involvement in the future of their children.     

Excretion of biliary compounds during intrauterine life

In adults, the hepatobiliary system, together with the kidney, constitute the main routes for the elimination of several endogenous and xenobiotic compounds into bile and urine, respectively. However, during intrauterine life the biliary route of excretion for cholephilic compounds, such as bile acids and biliary pigments, is very poor. Although very early in pregnancy the fetal liver produces bile acids, bilirubin and biliverdin, these compounds cannot be efficiently eliminated by the fetal hepatobiliary system, owing to the immaturity of the excretory machinery in the fetal liver. Therefore, the potentially harmful accumulation of cholephilic compounds in the fetus is prevented by their elimination across the placenta. Owing to the presence of detoxifying enzymes and specific transport systems at different locations of the placental barrier, such as the endothelial cells of chorionic vessels and trophoblast cells, this organ plays an important role in the hepatobiliary-like function during intrauterine life. The relevance of this excretory function in normal fetal physiology is evident in situations where high concentrations of biliary compounds are accumulated in the mother. This may result in oxidative stress and apoptosis, mainly in the placenta and fetal liver, which might affect normal fetal development and challenge the fate of the pregnancy. The present article reviews current knowledge of the mechanisms underlying the hepatobiliary function of the fetal-placental unit and the repercussions of several pathological conditions on this tandem.     

Recurrent malignant pilomatrixoma invading the cranial cavity: Improved local control with adjuvant radiation

We report the case of a 41‐year‐old mentally retarded male with recurrent pilomatrix carcinoma of the occipital region which invaded the occipital bone, left cerebellum and left temporal lobe. At his initial presentation the patient had a craniotomy and subtotal excision of the lesion with positive margins. He received no adjuvant therapy. After an early intracranial recurrence he had subtotal debulking and was referred for external beam radiotherapy. At 27 months follow‐up after adjuvant external beam radiotherapy the intracranial component has not progressed and the patient remains clinically well.     

Chromium does not belong in the diabetes treatment arsenal: Current evidence and future perspectives

Chromium is considered to have positive effects on insulin sensitivity and is marketed as an adjunctive therapy for inducing glucose tolerance in cases of insulin resistance("the glucose tolerance factor"). Case reports on patients who received prolonged parenteral nutrition indeed showed that the absence of trivalent chromium caused insulin resistance and diabetes. However, whether patients with type 2 diabetes can develop a clinically relevant chromium deficiency is unclear. This review summarizes the available evidence regarding the potential effectiveness of chromium supplementation on glycemic control(Hemoglobin A1c levels) in patients with type 2 diabetes. No studies investigating the longterm safety of chromium in humans were found. All clinical trials that have been performed had a relative short follow-up period. None of the trials investigated whether the patients had risk factors for chromium deficiency.The evidence from randomized trials in patients with type 2 diabetes demonstrated that chromium supplementation does not effectively improve glycemic control. The meta-analyses showed that chromium supplementation did not improve fasting plasma glucose levels. Moreover, there were no clinically relevant chromium effects on body weight in individuals with or without diabetes. Future studies should focus on reliable methods to estimate chromium status to identify patients at risk for pathological alterations in their metabolism associated with chromium deficiency. Given the present data, there is no evidence that supports advising patients with type 2 diabetes to take chromium supplements.     

The efficiency of a carbamazepine-mianserin combination scheme in opiate detoxification

A recent comparative randomized double-blind study has suggested the utility of a carbamazepine/mianserin combination as a treatment for opiate withdrawal. The aim of the present study was to explore the feasibility and efficiency of this combination under naturalistic conditions. Five hundred and fifty mostly polysubstance abusing patients treated with a standardized scheme combining carbamazepine and mianserin were assessed with regard to deviations to the protocol, used co-medications and retention in treatment.Three hundred and sixty three patients (66.0%) received the carbamazepine/mianserin combination as specified by the standardized protocol. In 350 patients (63.7%) the whole 10 days was completed. The most frequently used p.r.n. medications were for anxiety (47.5%) and insomnia (54.5%).The treatment of opiate withdrawal with a carbamazepine/mianserin combination scheme in an inpatient setting seems to be feasible and applicable with few adaptations to most patients, and may represent an interesting treatment option for multidrug users.