Search results for "multicentric"
showing 10 items of 23 documents
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
2018
Exome sequencing can interrogate thousands of genes simultaneously and it is becoming a first line diagnostic tool in genomic medicine. Herein, we applied trio clinical exome sequencing in a patient presenting with undiagnosed skeletal disorder, minor facial abnormalities, and kidney hypoplasia; her parents were asymptomatic. Testing the proband and her parents led to the identification of a de novo mutation c.188C>T (p.Pro63Leu) in the MAFB gene, which is known to cause multicentric carpotarsal osteolysis syndrome (MCTO). The c.188C>T mutation lies in a hotspot amino acid stretch within the transactivation domain of MAFB, which is a negative regulator of RANKL-induced osteoclastogenesis. M…
Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings
2021
The European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010-241909 (EUGEI); The Spanish sample was supported by the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024) (...)
IQ differences between patients with first episode psychosis in London and Palermo reflect differences in patterns of cannabis use.
2019
Aims: Cognitive impairment is a possible indicator of neurodevelopmental impairment, but not all psychotic patients are cognitively compromised. It has been suggested that heavy cannabis use may precipitate psychosis in those who show no such compromise. This study compares two samples of patients with first-episode psychosis and their respective non-psychotic controls, in London (UK) and Palermo (Italy), and examines whether different patterns of cannabis use are reflected in differences in IQ. Methods: The two studies used the same inclusion/exclusion criteria and instruments. The sample comprised 249 subjects from London (106 patients and 143 controls) and 247 subjects from Palermo (120 …
The accuracy of sentinel lymph node biopsy in the treatment of multicentric invasive breast cancer using a subareolar injection of tracer.
2008
BACKGROUND: The aim of this study was to evaluate the feasibility and the accuracy of sentinel lymph node biopsy in multicentric breast cancer (MBC) performed by means of a subareolar (SA) injection of both 99Tc-labeled human albumin colloid and lymphazurin. METHODS: Between January 2002 and October 2007, 34 patients with MBC with clinically negative axilla underwent sentinel lymph node biopsy (SLNB) followed by total axillary node dissection (AD). Overall successful identification rate of SLN was 100%; there were no false negatives and overall accuracy rate was 100%. RESULTS: The mean number of sentinel lymph nodes (SLNs) identified was 1.8 +/- 0.88 (range = 1-4); the mean number of axilla…
Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report
2017
Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to…
ROBOTIC VERSUS LAPAROSCOPIC INTRACORPOREAL ANASTOMOSIS IN RIGHT COLON CANCER SURGERY: ANALYSIS OF PATIENTS’ OPERATIVE OUTCOMES AND OPERATORS’ CURRENT…
2022
Background. Whereas laparoscopy proved to have better operative outcomes than open surgery over the years, robotic surgery provided no clear advantages over laparoscopy despite its more advanced technical features. However, robotic technology might help to achieve some advantageous procedures which are generally regarded as challenging, such as performing an intracorporeal anastomosis during a right colectomy. The objectives of this research project were: 1) to compare the outcomes of laparoscopic and robotic surgery in the case of a right colectomy with intracorporeal anastomosis for colon cancer; 2) to find any factors influencing surgical decisions and outcomes. Methods. First, we conduc…
Italian multicentric survey on laparoscopic spleen surgery in the pediatric population.
2007
Abstract Background: Some technical aspects of laparoscopic spleen surgery still are debated, although efforts have been made to standardize them. The position of the patient, the approach to the spleen, vessel identification and division, and spleen extraction can vary from center to center. Methods: This retrospective muticentric study led by the Societa` Italiana di Videochirurgia Infantile (SIVI) examined indications, surgical details, and complications of laparoscopic spleen surgery in the pediatric population during a 5-year period. Results: The study period from January 1999 to December 2003 (5 years) involved nine centers and included 85 patients with a mean age of 10 years (range, …
Occupational factors and risk of adult bone sarcomas:a multicentric case-control study in Europe
2006
International audience; We investigated the association between occupational factors and risk of bone sarcoma, a rare tumor with a largely unknown aetiology. A multicentric case-control study was conducted in 7 European countries in 1995-97. Ninety-six cases aged 35-69 years with a centrally reviewed diagnosis of bone sarcoma (68 chondrosarcomas and 28 osteosarcomas) were compared to 2,632 population (68%) or colon cancer (32%) controls. Subjects were interviewed to obtain information on occupational, medical and reproductive history, smoking and alcohol consumption and selected exposures including use of pesticides. Response proportions were 90% among cases and 66% among controls. Odds rat…
Acute and chronic hepatitis in childhood leukemia: a multicentric study from the Italian Pediatric Cooperative Group for Therapy of Acute Leukemia (A…
1985
The incidence of acute and chronic liver damage and its relation to hepatitis B virus (HBV) infection was evaluated in 164 consecutive children with acute leukemia seen in ten Italian hemato-pediatric units. Thirteen out of 164 children (7.9%) had acute hepatitis (AH) during treatment, while 8/90 (8.8%) showed an acute exacerbation of liver damage within 6 months after therapy withdrawal. Seven of the 13 children with AH while on therapy were HBsAg positive. In 12/13 cases, liver disease progressed to chronicity. Five of eight children who developed AH after completion of treatment were HBsAg positive. Eighty-nine patients (54.2%) developed biochemical evidence of chronic hepatitis during t…
Nonalcoholic fatty liver and metabolic syndrome in Italy: Results from a multicentric study of the Italian Arteriosclerosis society
2013
Nonalcoholic fatty liver disease (NAFLD) is associated with all the components of metabolic syndrome (MS) and might to be considered an additional component of MS itself. The Italian Society for the Study of Atherosclerosis (SISA) in 2005 started a research project aimed to study the NAFLD, using ultrasound (US), in nondiabetic MS subjects matching at least one of the ATP III criteria for HDL-C or triglycerides [TG]. Prevalence of US-NAFLD and its associated risk factors and prevalence of hypertransaminasemia and its possible determinants were evaluated. NAFLD prevalence was 0.78. Men with steatosis compared to men without steatosis were younger (P < 0.05) with higher TG (P < 0.03), homeost…