Search results for " congenital"

CONGENITAL NEUROBLASTOMA: A RARE CASE OF PLURIVISCERAL METASTATIC DISSEMINATION

2021

Neuroblastoma is one of the most common neonatal tumors. It involves children in early infancy and originates from neural crest cells of the adrenal gland medulla or sympathetic glia. We report an unusual case of congenital poorly differentiated neuroblastoma with multiple metastases in the brain and cerebellum. The biophysical profile showed a prominent polyhydramnios at 25.3 weeks of gestation; meantime, the mother was diagnosed with gestational diabetes. The mass was detected during the third ultrasonographic examination at 31.4 weeks of gestation. The fetus lived only one day after birth and the postmortem examinations were performed subsequently. An autopsy was performed both to unders…

Forms and limits of therapeutic treatments of hereditary diseases in ancient Greece

2017

Not being epistemologically different from treatment of congenital diseases, the therapy of hereditary diseases has to be considered in its complex relationship with the concepts of nature and culture, and with the ideas of Greek authors about generation and education. As such, therapy of hereditary diseases can be described as the (often hopeless) attempt by the ancient, particularly Hippocratic physician to restore the health condition or to contrast the natural tendency of the patient to develop and give expression to his or her pathological inheritance. If for the Greek physician dietetics represents the most widely practised way of treating disaeses on a presumed inherited basis, the n…

Periodontal disease associated to systemic genetic disorders

2007

A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis - in s…

Persistent Left Superior Vena Cava Significance in Prenatal Diagnosis—Case Series

2022

The persistent left superior vena cava (PLSVC) is a congenital heart anomaly reported in 0.3–0.5% of the general population and can be associated with congenital heart diseases in up to 8% of cases. Prenatal identification of PLSVC is important to prompt an extended cardiac and extracardiac fetal examination. We retrospectively reevaluated anomaly scans performed in our unit in a 2-year interval according to the national guidelines to evaluate the incidence of PLSVC and its association with prenatal morbidity. In our population, the incidence of PLSVC was 0.31%, and we found a low association with cardiac and extracardiac anomalies. The standard sections (three-vessel and trachea view, four…

Diagnosis of congenital toxoplasmosis: pre-and post-natal evaluation in Sicilian (Italy) epidemiological area. Preliminary data.

2007

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

SIRM–SIC appropriateness criteria for the use of Cardiac Computed Tomography. Part 1: Congenital heart diseases, primary prevention, risk assessment …

2021

AbstractIn the past 20 years, Cardiac Computed Tomography (CCT) has become a pivotal technique for the noninvasive diagnostic work-up of coronary and cardiac diseases. Continuous technical and methodological improvements, combined with fast growing scientific evidence, have progressively expanded the clinical role of CCT. Recent large multicenter randomized clinical trials documented the high prognostic value of CCT and its capability to increase the cost-effectiveness of the management of patients with suspected CAD. In the meantime, CCT, initially perceived as a simple non-invasive technique for studying coronary anatomy, has transformed into a multiparametric “one-stop-shop” approach abl…

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…

2021

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…

Successful tracheal occlusion using ultrathin fetoscopic equipment combined with real-time three-dimensional ultrasound.

2008

<i>Objective:</i> The most common complication of intrauterine tracheal balloon occlusion is the preterm premature rupture of membranes (PPROM) which increases the rate of neonatal morbidity and mortality. Ultrathin fetoscopy may be a method of reducing the risk of PPROM. <i>Materials and Methods:</i> The operation was performed at the 27th week of gestation after sedation and relaxation of a fetus with bilateral congenital diaphragmatic hernia and with the liver lifted upwards into the thorax. An ultrathin sheath with a 1.2-mm fetoscope was used under real-time 3-D ultrasound guidance. The patient delivered in the 38th week of gestation and did not display PPROM aft…

Transcatheter Vs. Surgical Closure of Atrial Septal Defects in Adults

2018

Abstract Percutaneous transcatheter device closure of secundum atrial septal defects (ASD) has now largely replaced surgical closure in most centres. The aim of this study was to compare results of transcatheter and surgical ASD closure in adults in Latvia during the years 2002–2014 and to analyse long-term outcomes of transcatheter closure. We analysed data from 334 patients with secundum ASD who underwent ASD closure in Pauls Stradiņš Clinical University Hospital. Patients were included into device or surgical closure groups. In the device group, three follow-ups were made 1, 6, and 12 months after the procedure. No follow-up data were available for surgical arm patients beyond their hosp…