Cerebrocostomandibular syndrome in four sibs, two pairs of twins.

We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All four babies had the characteristic features of CCMS, including Pierre-Robin anomalad and rib dysplasia. Cerebral involvement was evident in two of the patients who had suffered perinatal asphyxia. The presence of the syndrome in all four sibs together with the negative family history in previous generations is consistent with Mendelian autosomal recessive inheritance with high penetrance.     

Diverse Effects of Combinations of Maternal-Neonatal VDR Polymorphisms and 25-Hydroxyvitamin D Concentrations on Neonatal Birth Anthropometry: Functional Phenocopy Variability Dependence,Highlights the Need for Targeted Maternal 25-Hydroxyvitamin D Cut-Offs during Pregnancy

Vitamin D receptor (VDR) polymorphisms have been associated with a plethora of adverse pregnancy and offspring outcomes. The aim of this study was to evaluate the combined effect of maternal and neonatal VDR polymorphisms (ApaI, TaqI, BsmI, FokI, Tru9I) and different maternal and neonatal 25(OH)D cut-offs on neonatal birth anthropometry. This cross-sectional study included data and samples from a cohort of mother–child pairs at birth. A detailed neonatal anthropometry analysis at birth was also conducted. Different 25(OH)D cut-offs for neonates and mothers were included, according to their vitamin D status at birth: for neonates, cut-offs of [25(OH)D ≤ 25 and > 25 nmol/L] and [25(OH)D ≤ 50 nmol/L] were adopted, whereas for mothers, a 25(OH)D cut-off of [25(OH)D ≤ 50 and > 50 nmol/L)] was investigated. Following this classification, maternal and neonatal VDR polymorphisms were evaluated to investigate the potential different effects of different neonatal and maternal 25(OH)D cut-offs on neonatal birth anthropometry. A total of 69 maternal-neonatal dyads were included in final analysis. Weight, neck rump length, chest circumference, abdominal circumference, abdominal circumference (iliac), high thigh circumference, middle thigh circumference, lower arm radial circumference, and lower leg calf circumference of neonates who had the TAQl SNP TT genotype and maternal 25(OH)D < 50 nmol/L were significantly higher than that of neonates who had the Tt or tt genotypes (p = 0.001, Hg = 1.341, p = 0.036, Hg = 0.976, p = 0.004, Hg = 1.381, p = 0.001, Hg = 1.554, p = 0.001, Hg = 1.351, p = 0.028, Hg = 0.918, p = 0.008, Hg = 1.090, p = 0.002, Hg = 1.217, and p = 0.020, Hg = 1.263, respectively). Skin fold high anterior was significantly lower in neonates who had the BSMI SNP BB genotype compared to that of neonates with Bb or bb genotypes (p = 0.041, Hg = 0.950), whereas neck rump length was significantly higher in neonates who had the FOKI SNP FF genotype compared to that of neonates who had Ff or ff genotypes (p = 0.042, Hg = 1.228). Regarding neonatal VDR polymorphisms and cut-offs, the abdominal circumference (cm) of neonates who had the TAQI SNP TT genotype and 25(OH)D < 25 nmol/L were significantly higher than that of neonates who had the Tt or tt genotypes (p = 0.038, Hg = 1.138). In conclusion, these results indicate that the maternal TAQI VDR polymorphism significantly affected neonatal birth anthropometry when maternal 25(OH) concentrations were <50 nmol/L, but not for a higher cut-off of >50 nmol/L, whereas this effect is minimally evident in the presence of neonatal TAQI polymorphism with neonatal 25(OH)D values <25 nmol/L. The implication of these findings could be incorporated in daily clinical practice by targeting a maternal 25(OH)D cut-off >50 nmol/L, which could be protective against any effect of genetic VDR variance polymorphism on birth anthropometry.     

Randomized placebo-controlled study of low-dose warfarin for the prevention of central venous catheter-associated thrombosis in patients with cancer.

PURPOSE: In this multicenter, randomized, placebo-controlled clinical trial, we studied whether warfarin 1 mg daily reduces the incidence of symptomatic central venous catheter (CVC) -associated thrombosis in patients with cancer. PATIENTS AND METHODS: Two hundred fifty-five patients with cancer who required a CVC for at least 7 days were randomly assigned to receive warfarin 1 mg or placebo. RESULTS: There were 11 (4.3%) symptomatic CVC-associated thromboses among 255 patients, with no difference in the incidence of symptomatic CVC-associated thrombosis between patients taking warfarin 1 mg daily (six of 130 patients; 4.6%) and patients taking placebo (five of 125 patients; 4.0%; hazard ratio, 1.20; 95% CI, 0.37 to 3.94). Warfarin had no effect on CVC life span (84 days v 63 days in control and warfarin groups, respectively; 95% confidence limit, -16 to 55 days; P = .09), and it did not affect the number of premature CVC removals (23.2% v 25.4% in control and warfarin groups, respectively; 95% confidence limit of difference -8.34 to 12.71; P = .68) or the frequency of major bleeding episodes (2% v 0% in control and warfarin groups, respectively; P = .5, Fisher's exact test). CONCLUSION: Symptomatic CVC-associated thrombosis in patients with cancer, although significant, is less common than previously reported. In this study, the administration of warfarin 1 mg daily did not reduce the incidence of symptomatic CVC-associated thrombosis in patients with cancer. However, the low rate of symptomatic CVC-associated thrombosis means that a much larger trial is required to address this issue definitively.     

Isolated right ventricular infarction during percutaneous coronary intervention

Isolated right ventricular infarction (RVI) is an increasingly recognized cause of precordial ST-segment elevation (STE). A patient is described who developed STE in leads V1?CV5 secondary to occlusion of the right ventricular branch during stent angioplasty to the right coronary artery. The pattern of precordial STE was thought to be suggestive of anteroseptal myocardial infarction because of progressive STE toward lead V3. Repeat angiography disclosed a patent left anterior descending artery. Subsequent scrutiny of the electrocardiogram (ECG) revealed that leads V2 and V3 were switched and ECG interpretation considering this technical error revealed STE in V2>V3, which favored RVI. Furthermore, the mean spatial ST vector was approximately +120° in the frontal plane producing ST-segment depression in lead?I which argued against anteroseptal myocardial infarction and indicated right ventricular epicardial injury. This report highlights that analysis of the ECG using vector concepts is a useful adjunct to pattern recognition for the diagnosis of RVI.     

Soft, fortified ice-cream for head and neck cancer patients: a useful first step in nutritional and swallowing difficulties associated with multi-modal management

Patients with head and neck cancer have complex swallowing and nutritional concerns. Most patients are malnourished, and treatment modalities within the aerodigestive tract have profound effects on future swallowing and nutrition. The objective of this study is to investigate whether the introduction of fortified soft ice-cream to post-operative head and neck cancer patients would increase compliance with oral-feeding regimes. Using a questionnaire study, an ice-cream machine that produces fortified soft ice-cream was introduced onto our ward, and 30 patients were asked to fill out questionnaires based on their experience in addition to their oral-feeding regime. Results indicate that overall patient satisfaction and compliance with oral-feeding regimes increased: 77% felt that the taste was excellent and also felt that it was easy to eat; 60% felt that it eased the symptoms associated with their symptoms, in particular its cold temperature. We conclude from the results that the inability of patients undergoing multi-modal treatment for upper aerodigestive tract cancer to enjoy normal foods and its effects on their quality of life is underestimated. Providing a food to that is palatable, familiar and acceptable as it is safe and nutritionally sound can increase compliance with oral-feeding regimes. The ice-cream was safe to use in the early post-operative period, especially soothing in patients undergoing upper aerodigestive radiotherapy and high in protein and calorific content. Our practice may have wider benefits, including patients with oral and oropharyngeal infections, the elderly and patients with neurological dysphagia resulting from stroke.     

Molecular characterization of G6PD deficiency in Cyprus

In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test on blood spotted on filter paper and a quantitative spectrophotometric test on liquid blood. The frequency of G6PD deficiency among healthy adult males was found to be 5.1% using the semiquantitative procedure and 6.4% using the quantitative procedure. Neither method was able to detect all the expected female heterozygotes (5.3% and 47.1% of the expected number, respectively). A total of 21 male hemizygotes, 1 female homozygote and 9 female heterozygotes that tested positive for G6PD deficiency were studied at the molecular level. All 32 chromosomes were genotyped and five different mutations were identified. The Mediterranean mutation in exon 6 (563C-->T) (Ser188Phe) was found to be the most common variant in the Cypriot population, accounting for 52.6% of the deficient alleles. In the remaining chromosomes, four different mutations were identified: three known mutations, Kaiping 1388G-->A (Arg463His), Chatham 1003G-->A (Ala335Thr) and Acrokorinthos 463C-->G (His155Asp), and one previously undescribed mutation in exon 3, 148C-->T (Pro50Ser), which we called G6PD Kambos. We conclude that the frequency of G6PD deficiency in Cypriot males is 6.4%, and that this deficiency is the result of several different mutations. Although all the individuals carrying the Mediterranean variant can be detected using a semiquantitative screening method, a quantitative enzyme measurement is required to detect the G6PD variants with less severe enzyme deficiencies, while the most appropriate method for heterozygote detection is DNA analysis.     

A 10-year aerobiological study (1994-2003) in the Mediterranean island of Crete, Greece: trees, aerobiologic data, and botanical and clinical correlations.

Pollen grains from the plant cover of a given area participate largely in the composition of aeroflora (pollen and molds) of this area. Association of allergic respiratory disorders with concentration of allergenic particles in the atmosphere is well documented, and aerobiologic studies are of great relevance. A 10-year volumetric aerobiologic study was conducted in the city of Heraklion, located in the center of the north-shore of the island of Crete, Greece. Main allergenic families and genera encountered were, in descending order of frequency Oleaceae, Quercus, Platanaceae, Cupressaceae, Pinaceae, Populus, Moraceae, and Corylaceae. Concentrations noted for most of these aeroallergens were much lower than those reported from other European regions. In parallel, an atopic population of 576 individuals, exhibiting allergic symptoms mainly of the respiratory tract were subjected to a battery of skin-prick tests. A fair degree of agreement between total pollen counts and positive skin-prick test frequencies for the families of Oleaceae, Platanaceae, and Cupressaceae was noted. On the contrary a poor degree of concordance was noted for the rest of the families and genera.