Search results for " HER"
showing 10 items of 2979 documents
Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer
2017
International audience; Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular…
Different types of intestinal atresia in identical twins
2008
The authors present a previously unreported association of different types of intestinal atresia in identical low-birth-weight twins. Both babies were affected by duodenal atresia, associated in the first case with a complete mucosal duodenal membrane and in the second one with an "apple-peel" jejunal atresia. These occurrences may suggest that they were either the consequence of linkage of 2 genes or a pleiotropic expression of a single gene responsible for such rare conditions.
[Herpes Zoster and its prevention in Italy. Scientific consensus statement].
2014
In this paper, an Italian group of experts presents a revision of the available data about epidemiology and prevention of Herpes Zoster (HZ). HZ is an acute viral diseases caused by the reactivation of Varicella Zoster Virus (VZV). HZ is characterized by neurological and dermatological symptoms with a dermatomeric localization. The reactivation of the virus from the latent status in the sensitive ganglia increases with age and failing cell mediated immunity. In Europe, more than 95% of adults presents antibodies against VZV. Incidence of HZ is similar all over the world, related to the age of the population: from 2-3/1000 persons/year in the age group 20 to 50 years to 5/1000 in the 60 year…
Prophylactic Thyroidectomy in 75 Children and Adolescents with Hereditary Medullary Thyroid Carcinoma: German and Austrian Experience
1998
When mutations of the RETproto-oncogene were found in 1993 to account for hereditary medullary thyroid carcinoma (MTC), surgeons obtained the opportunity to operate on patients prophylactically (i. e., at a clinically asymptomatic stage). Whether this approach is justified, and, if so, when and to which extent surgery should be performed remained to be clarified. A questionnaire was sent to all surgical departments in Germany and Austria. All of the patients who fulfilled the following criteria were enrolled: (1) preoperatively proved RET mutation; (2) age/= 20 years, (3) clinically asymptomatic thyroid C cell disease; and (4) TNM classification pT0-1/pNX/pN0-1/M0. Seventy-five patients wer…
Guidelines of the Italian societies of gastroenterology on the diagnosis and management of coeliac disease and dermatitis herpetiformis
2022
Introduction: Coeliac disease and dermatitis herpetiformis are immune-mediated diseases triggered by the consumption of gluten in genetically predisposed individuals. These guidelines were developed to provide general practitioners, paediatricians, gastroenterologists, and other clinicians with an overview on the diagnosis, management and follow-up of coeliac patients and those with dermatitis herpetiformis.Methods: Guidelines were developed by the Italian Societies of Gastroenterology. Following a systematic literature review, the Grading of Recommendations Assessment, Development and Evaluation methodol-ogy was used to assess the certainty of the evidence. Statements and recommendations w…
Giant pseudocyst of the abdominal wall following incisional ventral hernia repair: an extremely rare clinical entity. Report of a case
2021
Il “gold standard” per il trattamento dei laparoceli è l’intervento chirurgico con impiego di protesi, nonostante questo approccio sia gravato da numerose complicanze post-operatorie; tra queste possiamo annoverare le pseudocisti giganti della parete addominale, tale evenienza risulta ancora molto rara e la sua eziopatogenesi riamane non chiara. In questo lavoro descriviamo il caso clinico di una paziente di 36 anni, diabetica ed obesa, precedentemente sottoposta a taglio cesareo e riparazione di laparocele con posizionamento di protesi in sede soprafasciale. La paziente si è presentata presso i nostri ambulatori per la comparsa di un gonfiore asintomatico a livello della fossa iliaca sinis…
Imaging of urinary bladder hernias
2005
Lorenzo E. Bacigalupo1, Michele Bertolotto2, Filippo Barbiera3, Pietro Pavlica4, Roberto Lagalla3, Roberto S. Pozzi Mucelli2, Lorenzo E. Derchi1 Bacigalupo LE, Bertolotte M, Barbiera F, et al. erniation of the urinary bladder is not rare. It is usually considered that 1–3% of all inguinal hernias involve the bladder [1], and Iason [2], in 1944, reported an incidence of 10% in men older than 50 years. Most bladder hernias involve the inguinal and femoral canals, with the latter more frequent in women, and a predilection for the right side has been reported. However, herniations through ischiorectal, obturator, and abdominal wall openings have also been described. Any portion of the bladder m…
The Fontan-Operation: From Intra- to Extracardiac Procedure
2003
Purpose For treatment of univentricular heart, the Fontan operation has been established as the definitive palliation. The current controversy is mainly based on the high incidence of arrhythmias after an intra-atrial lateral tunnel Fontan operation. Methods From January 1995 until April 2002. 46 children underwent a Fontan-type operation with or without a small fenestration. In 33 patients (group I) an Intracardiac tunnel and in 13 patients (group II) an extracardiac conduit procedure was performed. Principal findings There was no perioperative mortality. All patients showed postoperative a significant increase of arterial oxygen saturation, from 76 to 86% after surgery with fenestration, …
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
2013
International audience; Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical h…