Search results for " Abnormal"

Lip and oral lesions in children with Down syndrome. A controlled study

2015

Background: Down syndrome (DS) is the most common chromosomal abnormality affecting numerous organs, including the orofacial region. The objective of the present study was to assess the prevalence of lip and oral soft tissue lesions, with particular emphasize on the incidence of fissured tongue, lip fissures and angular cheilitis, among individuals with DS in Yemen. Material and Methods: This controlled cross-sectional study included 50 children with DS (6-18 years), and 50 age- and gender-matched healthy controls. The prevalence of orofacial soft tissue lesions was evaluated in both groups. Data were analyzed by Chi-square and Fisher tests, and p <0.05 was considered to be statistically si…

Core-Shell Arginine-Containing Chitosan Microparticles for Enhanced Transcorneal Permeation of Drugs

2019

Chitosan oligosaccharide (C) was functionalized with L-arginine (A) and short hydrocarbon chains (C-8) to design an amphiphilic copolymer, henceforth CAC(8), leading to microparticles (MPs) consisting of an arginine-decorated hydrophilic shell and inner hydrophobic domains allowing the encapsulation of high amount hydrophobic drugs such as sorafenib tosylate (>10% w/w). L-arginine side chains were selected in order to impart the final MPs enhanced transcorneal penetration properties, thus overcoming the typical biological barriers which hamper the absorption of drugs upon topical ocular administration. The mucoadhesive properties and drug release profile of the CAC(8) MPs (CAC(8)-MPs) were …

Dérivé de la bléomycine générant moins de ROS ? Moins de fibrose ? Une alternative dans le développement d’une thérapie anticancéreuse efficace mais …

2010

Deglycobleomycin (DBLM), the aglycon of the glycopeptide antitumor drug bleomycin (BLM), was first used since 1980 during comparative studies between BLM and DBLM in order to elucidate the role of the sugar component in the mechanism of action of BLM. In fact, the deglycosylation of BLM reduce the toxicity of this molecule and fails to produce reactive oxygen species, responsible for pulmonary fibrosis, and for anti-neoplastic activity of BLM. This causes toxic DNA lesions and ultimately leads to cell death. The therapeutic use of BLM is limited by a dose-dependent lung toxicity that eventually leads to fibrosis. Testing BLM-derivative molecules and defining their molecular mechanisms invol…

SWALLOWING, SPEECH AND OROFACIAL DISORDERS IN CHILDREN WITH ADENOTONSILLAR HYPERTROPHY

2022

A prospective observational study was conducted to evaluate the presence of swallowing, speech and orofacial muscle imbalance (OMI) disorders in patients with adenotonsillar hypertrophy and their regression after surgery. ENT, speech therapist and dentistry examination were conducted before and 12 months after surgery in 78 children between the ages of 2 and 12 with dysphagia, speech disorders and OMI adenotonsillar hypertrophy related with sleep-disordered breathing. Of the 78 patients enrolled, 62 underwent adenotonsillectomy, 9 adenoidectomy and 7 volume reduction of the palatine tonsils with a 12-month post-operative increase in SWAL-QOL score, weight gain, correction of ogival palate, …

Problemas en la estimación y en el contraste de los rendimientos anormales a largo plazo: Estado de la cuestión

2002

-Jose.E.Farinos@uv.es -Ana.M.Ibanez@uv.es El paradigma de la eficiencia ha sido puesto en entredicho en las últimas décadas como consecuencia de la obtención de rendimientos anormales, estadística y económicamente significativos, durante amplios periodos de tiempo tras algunas importantes decisiones empresariales. No obstante, los problemas conceptuales y estadísticos que presenta la medición y contrastación de los rendimientos anormales a largo plazo ha supuesto que la evidencia obtenida pase a calificarse como anomalía. Dada la escasa proliferación de este tipo de estudios en nuestro mercado y el desafortunado desarrollo de algunos de los existentes, en este trabajo presentamos estos prob…

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

&lt;i&gt;Objective:&lt;/i&gt; 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. &lt;i&gt;Method:&lt;/i&gt; Case report of a fetus affected by an intricate cloacal anomaly. &lt;i&gt;Results:&lt;/i&gt; 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…

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…