Search results for "MALFORMATIONS"
showing 10 items of 113 documents
Endoluminal sclerosis with diode laser in the treatment of orofacial venous malformations
2012
Introduction: The appearance of vascular anomalies in the orofacial area is a common condition, which represents about 50% of these malformations. Traditional treatment approach, such as surgery and chemical sclerosis has been given way to a few less-invasive options, as the use of the 810nm diode laser to induce the sclerosis of the venous malformation by intralesional photocoagulation. Objectives: The objective of this study was to determine the efficacy of the diode laser in the intralesional treatment of the orofacial venous malformations (OFVM), describing the recommended surgical approach, as well as to report the main associated complications. Patients and Methods: 10 cases of OFVM, …
Prognostic evaluation of biofeedback response in patients treated for anorectal malformation
2015
Abstract Purpose Functional bowel outcome in patients with anorectal malformation often is poor. For fecal incontinence resulting from sphincter dysfunction, biofeedback (BFB) training appears to be effective. The aim of study was to investigate the bowel function in incontinent children treated for ARM, using a clinical score, a manometric and pelvic magnetic resonance evaluation, in order to establish predictive parameters of response after BFB. Methods 25 children (median age of 6.5years) with true fecal incontinence were evaluated by clinical score, anorectal manometry and magnetic resonance imaging (MRI). According to these evaluations patients were divided in 4 groups: group 1 (favora…
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
2014
SummaryExome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specificall…
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
2014
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…
Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.
2015
Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…
Congenital Pediatric Diseases
2008
Major congenital malformations are diagnosed in 4%–6% of all infants and fetuses (Lynberg and Edmonds 1992). About one third of them are the leading cause for infant mortality or morbidity (Grandjean et al. 1999). Malformations of the internal urogenital system are diagnosed in about 1% of all infants and account for approximately 20% of all congenital malformations, thus being one of the three most frequent birth defects (Table 11.1.1). Therefore a pre- and/or postnatally performed ultrasound screening for malformations of the internal urogenital system should be part of the routine to reduce perinatal mortality and morbidity. The reliability and value of ultrasonographic screening for con…
Antenatal Ultrasound Diagnosis of Congenital Malformations of the Urinary Tract: Results and Criticism
1986
From October 1979 to June 1983 220 malformations were diagnosed antenatally at our hospital; 55 (25%) were malformations of the urinary tract, 21 of them hydronephroses and 34 of them dysplasias.
Management of multiple pregnancy with an affected twin
2015
Newborns from multiple pregnancies demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is more frequent in twins and therefore birth weight is significantly lower compared to singletons [1]. Thus, twins are more exposed to prema- turity related diseases (respiratory, cardiovascular, infec- tious, etc.) and to long-term complications [2]. It is very difficult to estimate the increased risk of neonatal mor- bidity related to twinning independently to the increased risk of prematurity. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role. Fetal growth restriction [3] and congenital malformationsare major …
Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study
2009
Abstract Background Hypospadias is a congenital displacement of the urethral meatus in male newborns, being either an isolated defect at birth or a sign of sexual development disorders. The aim of this study was to assess the prevalence rate of hypospadias in different Districts of Italy, in order to make a comparison with other countries all over the world. Methods We reviewed all the newborns file records (years 2001–2004) in 15 Italian Hospitals. Results We found an overall hypospadias prevalence rate of 3.066 ± 0.99 per 1000 live births (82.48% mild hypospadias, 17.52% moderate-severe). In newborns Small for Gestational Age (birthweight th percentile) of any gestational age the prevalen…
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis
2012
Congenital malformations are defects of the morphogenesis of organs or body regions identified during intrauterine development or at birth. They may be isolated and single, or multiple. Their global birth prevalence is about 2–3%. Congenital defects may be caused by genetic and/or environmental factors, acting singly or in combination. Diagnostic and therapeutic tools have allowed better identification of congenital malformations and have reduced long-term morbidity and mortality in affected patients. Because of increased life expectancy, congenital malformations today represent a major issue in health care because of the resources needed for multidisciplinary care.