Arteriovenous malformation in meningothelial meningioma: case report.

An unusual association of a meningioma and an arteriovenous malformation is reported. A 68-year-old man developed left homonymous hemianopsia, left hemiparesis, and gaze palsy. Magnetic resonance imaging showed a right occipital mass lesion containing multiple signal-void areas with tubular and honeycomb appearance, suggesting a marked vascular component. An angiogram showed abnormal vasculature in the mass supplied by the posterior cerebral artery and a dural arteriovenous malformation on the tentorium. Neuropathological examination after total removal of the mass revealed a meningothelial meningioma including major portions of an arteriovenous malformation that extended from the dura and leptomeninges, through the meningioma, and into the occipital lobe, where the tumor was located.

Epidemiologie der letalen Missbildungen in der Schweiz. [Epidemiology of fatal abnormalities in Switzerland].

Official certificates of stillbirth and infant death are analysed in the birth cohort of 1979-81. Congenital malformations account for approx. 40% of infant mortality. Cantonal differences in malformation rates are not explained by different incidence of such malformations only, but also by differences in lethality. Incidence of Anencephaly is examined in detail.

First evaluation of human sperm quality in various geographic regions of Switzerland

A decline in human sperm quality and quantity has been reported in numerous Western countries. This observation was also accompanied by an increase in urogenital malformations. The need for epidemiological studies dealing with unbiased populations in order to understand the causes of these observations is obvious. In Switzerland, the large majority of young men are asked to attend a military camp to be drafted into the army. A few weeks before this camp, conscripts were contacted and invited to participate in a large national study on semen quality. The participation was totally voluntary and anonymous. From September 2005 to June 2007, 770 volunteers filled out a questionnaire, underwent a clinical examination and provided sperm, blood and urine samples. Using self-rated health assessments, the observed cohort could be considered as healthy and no testicular cancer was found. Moreover, the testicular volumes, measured using Prader's orchidometry and ultrasonography, were comparable to those already published for young male populations. The median sperm concentration was 47 x 10(6)/ml, which is close to the concentration reported in Denmark, known to have the highest incidence of testicular cancer in Europe. Statistically significant differences were observed between regions with a lower sperm concentration for men residing in the Alps (43 x 10(6)/ml) and in the Zurich area (36 x 10(6)/ml) compared to men from West Plateau (54 x 10(6)/ml) and from the Jura (54 x 10(6)/ml). Such a regional discrepancy could be related to environmental factors, including endocrine disruptors. In order to confirm such regional differences more volunteers from the already studied regions should be studied and other parts of the country should be investigated. The rather low sperm concentration of Swiss young volunteers should be considered as a national health issue and investigated further.

Congenital hydrocephalus--prevalence, prenatal diagnosis and outcome of pregnancy in four European regions.

OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include information about livebirths, fetal deaths with GA > or = 20 weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from a multiple pregnancy. Additional non-cerebral major malformations were diagnosed in 38 cases (44%) and karyotype anomalies in eight cases (9%). Median GA at TOPFA was 21 weeks. Among livebirths 61% were diagnosed prenatally at a median GA of 31 weeks (range 17-40 weeks) and median GA at birth was 37 weeks. Fourteen liveborn infants (34%) died within the first year of life with the majority of deaths during the first week after birth. CONCLUSION: Congenital hydrocephalus is a severe congenital malformation often associated with other congenital anomalies. CH is often diagnosed prenatally, although sometimes late in pregnancy. A high proportion of affected pregnancies result in termination for severe fetal anomaly and there is a high mortality in livebirths.

Expression of smoothelin and smooth muscle actin in the skin.

INTRODUCTION: Smoothelin is a cytoskeletal protein of differentiated smooth muscle cells with contractile capacity, distinguishing it from other smooth muscle proteins, such as smooth muscle actin (SMA). OBJECTIVE: To evaluate the expression of smoothelin and SMA in the skin in order to establish specific localizations of smoothelin in smooth muscle cells with high contractile capacity and in the epithelial component of cutaneous adnexal structures. Methods: Immunohistochemical analysis (smoothelin and SMA) was performed in 18 patients with normal skin. RESULTS: SMA was expressed by the vascular structures of superficial, deep, intermediate and adventitial plexuses, whereas smoothelin was specifically expressed in the cytoplasm of smooth muscle cells of the deepest vascular plexus and in no other plexus of the dermis. The hair erector muscle showed intense expression of smoothelin and SMA. Cells with nuclear expression of smoothelin and cytoplasmic expression of SMA were observed in the outer root sheath of the inferior portion of the hair follicles and intense cytoplasmic expression in cells of the dermal sheath to SMA. CONCLUSIONS: We report the first study of smoothelin expression in normal skin, which differentiates the superficial vascular plexus from the deep. The deep plexus comprises vessels with high contractile capacity, which is important for understanding dermal hemodynamics in normal skin and pathological processes. We suggest that the function of smoothelin in the outer root sheath may be to enhance the function of SMA, which has been related to mechanical stress. Smoothelin has not been studied in cutaneous pathology; however we believe it may be a marker specific for the diagnosis of leiomyomas and leiomyosarcomas of the skin. Also, smoothelin could differentiate arteriovenous malformations of cavernous hemangioma of the skin

Parental occupational exposure to organic solvents and anencephaly in Mexico

Objective: To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico. Methods: A case-control study was conducted based on the registers of the Epidemiological Surveillance System for Neural Tube Defects in Mexico; 151 cases of anencephaly of ≥20 weeks’ gestation were included. A control, born alive and without any apparent congenital malformations at birth, was selected for each case in the same maternity service in which the case was born. Information on occupational exposures, lifestyle habits, reproductive history, use of medicines, supplementation with multivitamins and folic acid, was obtained by a general questionnaire; a food frequency questionnaire was also applied to obtain information of daily intake of folate and other B vitamins. Occupational exposure to organic solvents was based on job title as a proxy for exposure and analysed considering two critical periods around conception. Results: In logistic regression analysis, the odds of having a child with anencephaly was higher if the mother or the father was occupationally exposed to organic solvents during the periconceptional period, or when both parents or at least one of them were occupationally exposed during this period with an adjusted odds ratio of 2.97 (95% CI 1.36 to 6.52). Conclusions: The results support the hypothesis that both maternal and paternal occupational exposure to organic solvents can increase the probability of having a child with anencephaly.

Usefulness of late enhancement MRI as diagnostic tool to differentiate myocardial infarction from myocarditis

Introduction: Residual pulmonary artery (PA) anomalies are a major concern after surgery for cono-truncal malformations. This study sought to assess residual PA anomalies using MRI/MRA. Methods: 43 MRI/MRA studies were performed in 37 patients after corrective surgery for cono-truncal malformations. MRI/MRA studies comprised spin-echo, cine, velocity-encoded and 3D Gadolinium-enhanced MRA sequences. Residual PA anomalies were searched in ail patients; angiographie data were available in 13 patients and a comparison with MRI/MRA was made. Results: 32/37 patients had postoperative anomalies of the pulmonary arterial tree. Left pulmonary artery stenosis was the most common finding (14/32), followed by stenosis at multiple sites (11/32). Isolated right pulmonary artery stenosis was rare (2/32). The median time interval between MRI/MRA and angiography in the 13 patients undergoing both types of studies was 54 days. The findings between the two examinations were identical regarding stenoses and collateral vessels. In 4 patients, the MRI/MRA study allowed to plan interventional catheterization with balloon dilatation and/or stenting of the obstructed arteries or co il-occlusion of systemic collaterals. Eleven patients had additional surgery based on MRI/MRA findings. Conclusions: Post-operative anomalies of the PA in cono-truncal malformations can reliably be detected with MRI/MRA. This technique allows planning of the intervention al or surgical procedure to correct the residual anomalies and may th us replace or precede catheterization during the follow-up of surgically corrected cono-truncal malformations.

Evaluation pré-TAVI : comparaison entre le scanner cardiaque et l'échocardiographie.

Objectifs: Comparer le CT et l'échocardiographie cardiaques pour l'évaluation pré-interventionnelle des patients éligibles pour un remplacement aortique percutané (TAVI). Matériels et méthodes: Trente patients (15F/15H, âge 84±7y) éligibles pour un TAVI par voie transfémorale (n=15) ou transapicale (n=15) ont bénéficié d'un CT pré-procédural pour évaluer le diamètre (DCT) valvulaire aortique. Une échographie trans-thoracique pré et post-TAVI a été effectuée pour évaluer le gradient trans-valvulaire (Gmax) et la différence (ΔGmax), et une échographie trans-oesophagienne (ETO) pour confirmer le diamètre valvulaire (DUS). Le test-t de Student, le test de Lin (ρc) et le test de Bland-Altman (LOA) ont été utilisés pour les comparaisons. Résultats: Le DCT était similaire chez les patients bénéficiant d'un TAVI transfémoral ou transapical (22.9±3.0mm vs. 21.2±1.5mm,p=0.06). Le DCT était plus bas que le DUS (22.2±2.6mm vs. 23.3±2.1mm,p=0.017) et l'agrément entre DCT et DUS était modéré (ρc=0.62,différence moyenne=-1.1±1.9mm, 95%LOA:-4.8-2.6). Le Gmax pré-TAVI était similaire chez les patients ayant un TAVI transfémoral ou transapical (70.8±33.7 vs. 86.3±24.0mmHg,p=0.17). Le Gmax post-TAVI était plus bas que le Gmax pré-TAVI (78.5±29.7 vs. 16.8±5.1mmHg,p<0.001). Le ΔGmax était similaire pour les TAVI transfémoraux ou transapicaux (46.3±28.6 vs. 70.4±25.1 mmHg,p=0.05). Conclusion: Le CT cardiaque représente une alternative non-invasive à l'ETO pour l'évaluation pré-TAVI du diamètre valvulaire aortique.

Human Exposure to Endocrine-Disrupting Chemicals and Prenatal Risk Factors for Cryptorchidism and Hypospadias: A Nested Case-Control Study

BACKGROUND. Exposure to xenoestrogens during pregnancy may disturb the development and function of male sexual organs. OBJECTIVE. In this study we aimed to determine whether the combined effect of environmental estrogens measured as total effective xenoestrogen burden (TEXB) is a risk factor for male urogenital malformations. METHODS. In a case-control study, nested in a mother-child cohort (n = 702) established at Granada University Hospital, we compared 50 newborns with diagnosis of cryptorchidism and/or hypospadias with 114 boys without malformations matched by gestational age, date of birth, and parity. Controls did not differ from the total cohort in confounding variables. TEXB and levels of 16 organochlorine pesticides were measured in placenta tissues. Characteristics of parents, pregnancy, and birth were gathered by questionnaire. We used conditional and unconditional regression models to estimate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS. TEXB from organohalogenated compounds was detectable in 72% and 54% of case and control placentas, respectively. Compared with controls, cases had an OR for detectable versus non-detectable TEXB of 2.82 (95% CI, 1.10-7.24). More pesticides were detected in cases than in controls (9.34 +/- 3.19 vs. 6.97 +/- 3.93). ORs for cases with detectable levels of pesticides, after adjusting for potential confounders in the conditional regression analysis, were o,p'-DDT (OR = 2.25; 95% CI, 1.03-4.89), p,p'-DDT (OR = 2.63; 95% CI, 1.21-5.72), lindane (OR = 3.38; 95% CI, 1.36-8.38), mirex (OR = 2.85; 95% CI, 1.22-6.66), and endosulfan alpha (OR = 2.19; 95% CI, 0.99-4.82). Engagement of mothers in agriculture (OR = 3.47; 95% CI, 1.33-9.03), fathers' occupational exposure to xenoestrogens (OR = 2.98; 95% CI, 1.11-8.01), and history of previous stillbirths (OR = 4.20; 95% CI, 1.11-16.66) were also associated with risk of malformations. CONCLUSIONS We found an increased risk for male urogenital malformations related to the combined effect of environmental estrogens in placenta.

Impact of severe epilepsy on development: Recovery potential after successful early epilepsy surgery.

Purpose: Epilepsy surgery in young children with focal lesions offers a unique opportunity to study the impact of severe seizures on cognitive development during a period of maximal brain plasticity, if immediate control can be obtained. We studied 11 children with early refractory epilepsy (median onset, 7.5 months) due to focal lesion who were rendered seizure-free after surgery performed before the age of 6 years. Methods: The children were followed prospectively for a median of 5 years with serial neuropsychological assessments correlated with electroencephalography (EEG) and surgery-related variables. Results: Short-term follow-up revealed rapid cognitive gains corresponding to cessation of intense and propagated epileptic activity [two with early catastrophic epilepsy; two with regression and continuous spike-waves during sleep (CSWS) or frontal seizures]; unchanged or slowed velocity of progress in six children (five with complex partial seizures and frontal or temporal cortical malformations). Longer-term follow-up showed stabilization of cognitive levels in the impaired range in most children and slow progress up to borderline level in two with initial gains. Discussion: Cessation of epileptic activity after early surgery can be followed by substantial cognitive gains, but not in all children. In the short term, lack of catch-up may be explained by loss of retained function in the removed epileptogenic area; in the longer term, by decreased intellectual potential of genetic origin, irreversible epileptic damage to neural networks supporting cognitive functions, or reorganization plasticity after early focal lesions. Cognitive recovery has to be considered as a "bonus," which can be predicted in some specific circumstances.

Reduced ejection fraction after myocardial infarction: is it sufficient to justify implantation of a defibrillator ?

Introduction : La diminution de la fraction d'éjection après infarctus du myocarde est-elle suffisante pour justifier l'implantation prophylactique de défibrillateur ? Introduction: La diminution de la fraction d'éjection (FE) est un facteur prédictif majeur de mortalité cardiaque chez les patients avec ancien infarctus du myocarde (IM). Les plus récentes études, pour la plupart conduites à la fin des années 90, montrent une diminution de la mortalité post-hospitalière à 10 à 20% par année. Une amélioration de la survie par implantation prophylactique de défibrillateurs a été démontrée chez les patients avec dysfonction myocardique avancée après ancien IM dans la cadre de l'étude MADIT II (Multicenter Automatic Defibrillator Implantation Trial) et est depuis lors, considérée comme une thérapie recommandée. Le bénéfice de l'implantation prophylactique de défibrillateurs en terme de nombre nécessaire de patients à traiter pour prévenir un évènement est d'un intérêt primordial en raison des complications potentielles liées à la procédure et l'appareillage, des implications psychologiques ainsi qu'en raison de l'analyse coût-efficacité. Le nombre de patients à traiter est corrélé au risque actuel de mortalité rythmique, probablement influencé par les récentes avancées thérapeutiques dans la prise en charge aigue de l'IM (notamment par angioplastie primaire) et de l'insuffisance cardiaque. Or, dans '' l'étude MADIT II, le recrutement des patients était effectué entre 1997 et 2001 et l'intervalle moyen entre l'IM et le recrutement était de plus de 6 ans. Le but de l'étude était donc d'évaluer, dans la pratique générale, la mortalité actuelle de patients ayant survécu à un IM avec diminution consécutive significative de la FE. La stratification du risque sur la base des variables hospitalières a de même été explorée. Méthode: Une analyse de cohorte de patients avec infarctus aigu du myocarde admis de 1999 à 2000 a été effectuée dans 2 centres hospitaliers (un universitaire et un cantonal). Tous les dossiers cliniques des patients sortis d'hôpital avec FE documentée ≤ 0.40 ont été inclus. Les caractéristiques des patients, les procédures diagnostiques et thérapeutiques ainsi que la médication étaient reportées. La période de suivi débutait à la sortie d'hôpital. Les end-points primaires étaient la mortalité globale, la mortalité cardiaque et les morts subites. Une analyse bivariée et multivariée a été effectuée. Résultats: 165 patients ont été inclus. Durant un suivi médian de 30 mois (interquartile range 22-36), 18 patients sont décédés (5 morts classifiées comme cardiaques, 8 comme subites, 5 de causes non cardiaques). Les taux de mortalité à un et deux ans selon analyse de Kaplan-Meier étaient de 6.7 et 8.6%, respectivement. Les variables reflétant l'atteinte coronarienne et sa prise en charge (antécédent d'IM, reperfusion aigue, revascularisation complète) étaient plus significativement associées à la mortalité comparées aux variables reflétant la dysfonction myocardique (FE, classe Killip à l'admission). Conclusion : La mortalité des patients ayant survécu à un IM avec dysfonction myocardique avancée a diminué de façon substantielle depuis la fin des années 90. La diminution de la mortalité rythmique implique une augmentation proportionnelle du nombre de patients à traiter par implantation de défibrillateur pour prévenir un évènement. Par ailleurs, une stratification du risque après IM basée uniquement sur la FE semble être inappropriée au vu de son impact mineur sur la mortalité comparé aux autres facteurs de risque identifiés dans notre étude. Les patients sans antécédents d'infarctus et ceux ayant bénéficié d'une revascularisation aigue ou complète avait une mortalité cumulée à 2 ans de, respectivement, 2.5%, 3.9% et 2.3%. Pour ce type de patients à bas risque le bénéfice de l'implantation prophylactique de défibrillateur doit être remis en question. Au vu de cette étude, une stratification additionnelle du risque avant implantation de défibrillateur est à considérer.

Resultados materno-fetales de la gestación tras cirugía bariátrica.

BACKGROUND Obesity is the most frequent metabolic disease in the World, and is associated with several comorbidities. Bariatric procedures arise as a promising treatment when classical approach is ineffective. Half of the operated patients are reproductive-aged women and there is evidence that obesity is related to worse maternal and fetal outcomes. Because nutritional status is affected by bariatric surgery and is a vital component during pregnancy, the aim of our study is to asses the impact of bariatric surgery on pregnancy in these patients. MATERIAL AND METHODS We studied 10 women and 15 pregnancies following bariatric surgery between 2003 and 2009. The visits took place every three months by an obstetrician and an endocrinologist with experience in nutrition, recording clinical features and lab work. RESULTS We found iron deficiency in 80% of the pregnancies, vitamin D in 46,7%, vitamin A in 20%, vitamin E in 13,3% and vitamin B12 in 26,7%. There were no complications during pregnancy, except one case of gravidic hiperemesis. There were nine deliveries without malformations, three of them were small for gestational age newborns and one suffered aspiration pneumonia. There were three stillbirths and one preterm delivery with fetal death. CONCLUSIONS our results show fewer complications during pregnancy in these women than obese women and similar to general population.

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?

Hirschsprung disease (HSCR) is defined by the absence of intramural ganglia of Meissner and Auerbach along variable lengths of the gastrointestinal tract. Intestinal neuronal dysplasia (IND) type B is characterized by the malformation of the parasympathetic submucous plexus of the gut. A connection appears to exist between these two enteric nervous system abnormalities. Due to the major role played by the RET proto-oncogene in HSCR, we sought to determine whether this gene was also related to INDB. dHPLC techniques were employed to screen the RET coding region in 23 patients presenting with INDB and 30 patients with a combined HSCR+INDB phenotype. In addition, eight RET single nucleotide polymorphisms (SNPs) were strategically selected and genotyped by TaqMan technology. The distribution of SNPs and haplotypes was compared among the different groups of patients (INDB, HSCR+INDB, HSCR) and the controls. We found several RET mutations in our patients and some differences in the distribution of the RET SNPs among the groups of study. Our results suggest an involvement of RET in the pathogenesis of intestinal INDB, although by different molecular mechanisms than those leading to HSCR. Further investigation is warranted to elucidate these precise mechanisms and to clarify the genetic nature of INDB.

MR and CT imaging of pulmonary valved conduits in children and adolescents: normal appearance and complications.

BACKGROUND: The Contegra® is a conduit made from the bovine jugular vein and then interposed between the right ventricle and the pulmonary artery. It is used for cardiac malformations in the reconstruction of right ventricular outflow tract. OBJECTIVE: To describe both normal and pathological appearances of the Contegra® in radiological imaging, to describe imaging of complications and to define the role of CT and MRI in postoperative follow-up. MATERIALS AND METHODS: Forty-three examinations of 24 patients (17 boys and 7 girls; mean age: 10.8 years old) with Contegra® conduits were reviewed. Anatomical description and measurements of the conduits were performed. Pathological items examined included stenosis, dilatation, plicature or twist, thrombus or vegetations, calcifications and valvular regurgitation. Findings were correlated to the echographic gradient through the conduit when available. RESULTS: CT and MR work-up showed Contegra® stenosis (n = 12), dilatation (n = 9) and plicature or twist (n = 7). CT displayed thrombus or vegetations in the Contegra® in three clinically infected patients. Calcifications of the conduit were present at CT in 12 patients and valvular regurgitation in three patients. The comparison between CT and/or MR results showed a good correlation between the echographic gradient and the presence of stenosis in the Contegra®. CONCLUSION: CT and MR bring additional information about permeability and postoperative anatomy especially when echocardiography is inconclusive. Both techniques depict the normal appearance of the conduit, and allow comparison and precise evaluation of changes in the postoperative follow-up.

PAX6 aniridia and interhemispheric brain anomalies.

PURPOSE: To report the clinical and genetic study of patients with autosomal dominant aniridia. METHODS: We studied ten patients with aniridia from three families of Egyptian origin. All patients underwent full ophthalmologic, general and neurological examination, and blood drawing. Cerebral magnetic resonance imaging was performed in the index case of each family. Genomic DNA was prepared from venous leukocytes, and direct sequencing of all the exons and intron-exon junctions of the Paired Box gene 6 (PAX6) was performed after PCR amplification. Phenotype description, including ophthalmic and cerebral anomalies, mutation detection in PAX6 and phenotype-genotype correlation was acquired. RESULTS: Common features observed in the three families included absence of iris tissue, corneal pannus with different degrees of severity, and foveal hypoplasia with severely reduced visual acuity. In Families 2 and 3, additional findings, such as lens dislocation, lens opacities or polar cataract, and glaucoma, were observed. We identified two novel (c.170-174delTGGGC [p.L57fs17] and c.475delC [p.R159fs47]) and one known (c.718C>T [p.R240X]) PAX6 mutations in the affected members of the three families. Systemic and neurological examination was normal in all ten affected patients. Cerebral magnetic resonance imaging showed absence of the pineal gland in all three index patients. Severe hypoplasia of the brain anterior commissure was associated with the p.L57fs17 mutation, absence of the posterior commissure with p.R159fs47, and optic chiasma atrophy and almost complete agenesis of the corpus callosum with p.R240X. CONCLUSIONS: We identified two novel PAX6 mutations in families with severe aniridia. In addition to common phenotype of aniridia and despite normal neurological examination, absence of the pineal gland and interhemispheric brain anomalies were observed in all three index patients. The heterogeneity of PAX6 mutations and brain anomalies are highlighted. This report emphasizes the association between aniridia and brain anomalies with or without functional impact, such as neurodevelopment delay or auditory dysfunction.