Search results for "abnormalities"
showing 10 items of 638 documents
Contralateral processus closure to prevent metachronous inguinal hernia: A systematic review.
2019
Inguinal hernia repair is one of the most frequent operations in pediatric surgery and is increasingly performed laparoscopically. The latter introduced new momentum in the debate on the necessity of contralateral exploration, as the rates of contralateral patent processus vaginales and metachronous inguinal hernias determine whether a routine closure would be overtreatment or useful prevention.We searched MEDLINE via PubMed, Web of Science and Scopus at the 6th of September 2017; reference lists and CrossRef were snowballed for reports citing identified studies. Eligibility criteria were age18 years, preoperative diagnosis of unilateral hernia, laparoscopic evaluation, and publication sinc…
Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications.
2020
A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controver…
Cardiac involvement in rheumatoid arthritis: Evidence of silent heart disease
1995
Background : Rlieumatoid arthritis (RA) is a systemic disease involving many organ systems and is frequently accompanied by cardiac alterations. However, there is considerable disagreement concerning the cardiac abnormalities found in patients with RA. The purpose of our investigation was to determine, by a non-invasive method such as echocardiography, the nature and extent of cardiac involvement in RA patients with no symptoms of cardiac disease, in comparison with a control sample. Methods : We selected 35 patients affected by rheumatoid arthritis (five men, 30 women), aged 51 ± 11 years. No patient had either symptoms of cardiac disease or extra cardiac complaint. As a control group we s…
An abdominal aortic aneurysm (AAA) in combination with duplication of the inferior vena cava (IVC), the right renal artery (RRA) and the right renal …
1990
Intra-abdominal abnormality of vessels may sometimes lead to complications. A case of the rare combination of an abdominal aortic aneurysm (AAA) at the origin of the inferior mesenteric a. with duplications of the inferior vena cava (IVC), the right renal a. (RRA) and the right renal v. (RRV) as well as absence of the left common iliac v. is reported.
The hypothetical role of congenital hypotonia in the development of early coronoid hyperplasia
2012
Abstract Background Coronoid hyperplasia (CH) is an abnormal bony elongation of a histologically normal coronoid process. Its definitive cause remains unknown. Objectives To analyze the possible implication of congenital hypotonia in the pathogenesis of early coronoid overgrowth. Patients and methods Two infants with congenital hypotonia were evaluated for limited mouth aperture. Bilateral CH was diagnosed. Transoral coronoidectomy was followed by an early dynamic physiotherapy program. Results Significant improvement of maximum interincisal opening was achieved. The review of the scientific literature proved the diagnosis of CH in the infant age group is extremely unusual and the etiology …
Prognostic Role of Late Gadolinium Enhancement in Patients With Hypertrophic Cardiomyopathy and Low-to-Intermediate Sudden Cardiac Death Risk Score
2019
Sudden cardiac death (SCD) is the most life-threating complication of hypertrophic cardiomyopathy. Guidelines of the European Society of Cardiology (ESC) suggest the implantation of an implantable cardioverter defibrillator in primary prevention according to a 5-year risk SCD score >= 6%. The aim of the study is to evaluate the prognostic role of late gadolinium enhancement (LGE) in patients with a 5-year risk SCD score <6%. In this multicenter study, we performed cardiac magnetic resonance in 354 consecutive hypertrophic cardiomy-opathy patients (257 males, range of age 54 +/- 17) with a risk SCD score <6% (302 with <4% and 52 with >= 4 and <6% risk). Hard cardiac events,…
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
2020
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the c…
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…
2011
Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients
2013
Myotonic dystrophy type 1 (DM1) is caused by the expansion of CTG repeats in the 3' untranslated region of the DMPK gene. Several missplicing events and transcriptional alterations have been described in DM1 patients. A large number of these defects have been reproduced in animal models expressing CTG repeats alone. Recent studies have also reported miRNA dysregulation in DM1 patients. In this work, a Drosophila model was used to investigate miRNA transcriptome alterations in the muscle, specifically triggered by CTG expansions. Twenty miRNAs were differentially expressed in CTG-expressing flies. Of these, 19 were down-regulated, whereas 1 was up-regulated. This trend was confirmed for thos…
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
2008
When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This …