Search results for "BN"

Developmental terms—some proposals: First report of an International working group

1979

Paper 6: EUROCAT member registries: organization and activities.

2011

BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…

Fetal Urogenital Sinus with Consecutive Hydrometrocolpos because of Labial Fusion: Prenatal Diagnostic Difficulties and Postpartal Therapeutic Manage…

2006

<i>Objective:</i> To elucidate the differential diagnoses of tumorous dilations in the fetal pelvic region detected by prenatal ultrasound and the postnatal management demonstrated on a fetus with 29 weeks of gestation with a retrovesical located bottle-like cystic structure measuring 54 × 31 × 27 mm within the pelvis. Postnatal findings were a labial fusion and a consecutive hydrometrocolpos due to a urethrovaginal fistula. <i>Method:</i> Case report of a fetus affected by an intricate cloacal anomaly. <i>Results:</i> The long-term prognosis for this nonsyndromic form of hydrometrocolpos without any other structural defects or organic failures after oper…

Extensive molecular analysis of patients bearing CFTR-related disorders.

2012

Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…

Aproximación al proceder hermenéutico del TJUE: libertad de empresa, libre competencia y Constitución del Trabajo

2017

La primacía de los derechos fundamentales constituye uno de los logros normativos de la postguerra. En contraste, la conquista jurídica del Derecho de la Unión ha consistido en someter a los parlamentos estatales a la primacía de las libertades de mercado, incluso en detrimento de los llamados derechos humanos ¿clásicos¿. Las libertades comunitarias efectúan una concreción de la libertad de empresa en sus respectivos ámbitos materiales. Sin embargo, éstas incorporan un contenido diferenciado del atribuido al contenido esencial de la libertad de empresa reconocido en el nivel nacional. El proceso de mutación constitucional en el ámbito europeo se dirige así hacia una confluencia con el model…

Clinical efficacy of highly purified, doubly virus-inactivated factor VIII/von Willebrand factor concentrate (Fanhdi® ) in the treatment of von Wille…

2002

Summary. The goal of therapy in patients with von Willebrand disease (vWD) is to correct the dual defect of primary haemostasis and intrinsic coagulation reflected by low levels of von Willebrand factor (vWF) and factor VIII coagulant activity (FVIII:C). Factor VIII/von Willebrand factor (FVIII/vWF) concentrates are currently the treatment of choice in vWD patients unresponsive to desmopressin (DDAVP). However, only few studies on their clinical use are available so far. The main objective of this study was to retrospectively evaluate the clinical efficacy of a highly purified, doubly virus-inactivated FVIII/vWF concentrate with a high content of FVIII/vWF (Fanhdi®). Twenty-two patients wit…

Decay properties of neutron-deficient isotopes 256, 257Db, 255Rf, 252, 253Lr

2001

Isotopes of dubnium (element 105) with mass numbers A = 256, 257, and 258 were produced by the reaction 209Bi(50Ti,xn) 259-xDb (x = 1, 2, 3) at projectile energies of (4.59-5.08) AMeV. Excitation functions were measured for the 1n, 2n and 3n evaporation channels. The same position of the excitation function was observed for the 1n channel as for the previously measured 1n channel of the reaction 208Pb(50Ti,1n)257Rf. The measured α-decay data of 257Db and its daughter products resulted in the identification of α-decaying isomeric states in 257Db and 253Lr. Two new isotopes, 256Db and 252Lr, were produced at the highest bombarding energies of 4.97 AMeV and 5.08 AMeV. They were identified by d…

Activité physique et prévention des chutes chez les personnes âgées

2015

Les chutes chez les personnes âgées sont fréquentes : près d’une personne de plus de 65 ans sur trois et une personne de plus de 80 ans sur deux chutent chaque année. L’état de santé, les capacités fonctionnelles, les facteurs comportementaux ou les caractéristiques de l’environnement constituent autant de facteurs de risque. Au-delà des traumatismes physiques et psychologiques tels que la peur de tomber qui en résultent, les chutes peuvent entraîner des limitations fonctionnelles, une diminution de la qualité de vie, une perte d’autonomie voire une entrée en institution.Dans un contexte de vieillissement de la population, la prévention des chutes et la préservation de l’autonomie dans les …

Hydrogen Arrangements on Defective Quasi-Molecular BN Fragments

2019

Considering the ever-increasing interest in metal-free materials, some potential chemical applications of quasi-molecular boron nitride (BN) derivatives were tested. Specifically, the behavior of BN fragments was analyzed when given defects, producing local electron density changes, were introduced by using topological engineering approaches. The inserted structural faults were Schottky-like divacancy (BN-d) defects, assembled in the fragment frame by the subtraction of one pair of B and N atoms or Stone-Wales (SW) defects. This study is aimed at highlighting the role of these important classes of defects in BN materials hypothesizing their future use in H-2-based processes, related to eith…

Can we compare haemophilia carriers with clotting factor deficiency to male patients with mild haemophilia?

2020

Introduction Certain haemophilia carriers demonstrate an increased bleeding tendency, mainly related to clotting factor deficiency. No study has so far formally compared the bleeding phenotype of women and girls with mild FVIII or FIX deficiency and associated management with that of male patients affected by mild haemophilia A and B. Material and methods We retrospectively evaluated 44 women and girls with mild FVIII or FIX deficiency (FVIII or FIX 0.05-0.5 IU/mL) and 77 male patients with mild haemophilia A or B and compared them with respect to clotting factor level, age at and trigger for diagnosis, as well as treatment modalities. Results After excluding gender-related haemorrhagic sym…