179 research outputs found
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome)
No full textDeletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is
characterized by congenital heart defect (CHD), palatal anomalies, facial
dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning
disabilities. CHD is present in 75% of patients with Del22. The most frequently seen
cardiac malformations are “conotruncal” defects, including tetralogy of Fallot (TF),
pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA),
interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the
specific “cardiac phenotype” in patients with Del22 shows that a particular cardiac
anatomy can be identied in these subjects. In addition to CHD, various organ
systems can be involved, so that a multidisciplinary approach is needed in the
evaluation of patients with Del22.peer-reviewe
Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.
No full textLeopard syndrome
No full textAbstract LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable.</p
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and hedgehog signaling dysfunction
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Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536.
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Insecticide activitiy of Mediterranean essential oils
No full textVapours of essential oils, extracted from 12 Mediterranean plants of the families Lamiaceae, Verbenaceae and Apiaceae, were assayed for insecticide activity against the aphid pests Acyrthosiphon pisum (Harris) and Myzus persicae (Sulzer). Different doses were applied, starting from 2 ml/l air and halving the dose until no activity was registered. Anise, fennel and basil essential oils resulted in high mortality, even applied at low doses. Activity was dose-dependent. The occurrence of phytotoxicity following the application of some essential oil is discussed. In spite of the well-known drawbacks owing to phytotoxicity, the application of essential oils in the control of pests on plants appears feasible
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum developement
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