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showing 10 items of 2908 documents
Outcomes of Liver Transplant for Adults With Wilson’s Disease
2020
Wilson's disease (WD) is a rare genetic disorder with protean manifestations. Even if liver transplantation (LT) could represent an effective therapeutic option for patients with end-stage liver disease, it has remained controversial in the presence of neuropsychiatric involvement. This study aimed to examine the frequency of adult LT for WD in Italy, focusing on the disease phenotype at the time of LT. A retrospective, observational, multicenter study was conducted across Italy exploring the frequency and characteristics of adults transplanted for WD between 2006 and 2016. A total of 29 adult WD patients underwent LT during the study period at 11 Italian LT centers (accounting for 0.4% of …
Repair of the mandibular nerve by means of autologous nerve grafting after resection of the lower jaw
1973
Summary On the basis of two cases we demonstrate our method of autologous nerve grafting for substitution of the mandibular nerve after mandibular resection. The sural nerve served as a donor nerve, the graft was imbedded microsurgically at the juncture points by means of a perineurial interfascicular nerve suture. Oversized grafts of about 20 cm in length were chosen intentionally in order to insert them without tension between the stumps of the recipient nerve and outside the regeneration zone of the bone. In both cases complete resensibilization of the lower lip was reached after about six months.
Deletion of Chromosome 11q Predicts Response to Anthracycline-Based Chemotherapy in Early Breast Cancer
2007
Abstract Despite the recent consensus on the eligibility of adjuvant systemic therapy in patients with lymph node–negative breast cancer (NNBC) based on clinicopathologic criteria, specific biological markers are needed to predict sensitivity to the different available therapeutic options. We examined the feasibility of developing a genomic predictor of chemotherapy response and recurrence risk in 185 patients with NNBC using assembled arrays containing 2,460 bacterial artificial chromosome clones for scanning the genome for DNA copy number changes. After surgery, 90 patients received anthracycline-based chemotherapy, whereas 95 did not. Tamoxifen was administered to patients with hormone r…
Activity and safety of temozolomide in advanced adrenocortical carcinoma patients
2019
Objective Temozolomide has shown a significant anti-proliferative activity on adrenocortical cancer (ACC) cells in vitro. Design On the basis of these results the drug was prescribed as second/third line in advanced metastatic ACC patients in four referral centers in Italy. Methods We retrospectively collected anagraphic, clinical and pathological data of patients with advanced ACC with disease progression to standard chemotherapy plus mitotane who were treated with temozolomide at the dose of 200 mg/m2/die given for 5 consecutive days every 28 days. The primary endpoint was the disease control rate, defined as objective response or disease stabilization after 3 months. Secondary endpoints…
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
2012
Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 …
Socioeconomic Factors and the Risk of Anencephaly in a Mexican Population: A Case-Control Study
2005
Objective. The study was designed to evaluate the association between socioeconomic level (as measured by maternal education, maternal occupation, and monthly family income) and anencephaly. Methods. The authors conducted a case-control study using data from the Epidemiological Surveillance System Register for Neural Tube Defects for three states of the Mexican Republic: Puebla, Guerrero and the State of Mexico. Mothers of 151 cases of infants born with anencephaly and mothers of 151 control infants born during the period March 2000 to February 2001 were interviewed about their socioeconomic characteristics and other factors including reproductive history, use of prenatal care, use of tobac…
Empirical examination of executive functioning, ADHD associated behaviors, and functional impairments in adults with persistent ADHD, remittent ADHD,…
2019
Abstract Background Previous studies suggest that childhood attention deficit hyperactivity disorder (ADHD) may continue in adulthood, producing adverse effects. Therefore, identifying factors that help to differentiate characteristics of ADHD persistence and remission has practical implications for evaluation and treatment. The first aim of this study was to analyze differences in executive functions (shift, working memory, inhibition, and plan/organize), symptoms associated with ADHD (inattention, hyperactivity, emotional lability, and self-concept), and functional impairments in adults with persistent ADHD (ADHD-P), with remittent ADHD (ADHD-R), and without ADHD (N-ADHD). The second aim …
Countertransference in Factitious Disorder
1994
In the treatment of patients with factitious disorder it is important to realize that at various levels of their experience these patients are more intimate with death than with life. This requires a particular awareness of resistance mechanisms to countertransference as well as of the importance of clinical procedures, in particular with regard to superego analysis. A requirement for establishing a psychotherapeutic alliance with patients suffering from factitious disorder is a high degree of 'therapeutic eros', hope and trust in one's own capabilities. The emphasis on a 'biophile attitude' does, however, involve the danger that the destructive potential, fantasies of death or killing, but…
Speech perception performance as a function of stimulus pulse rate and processing strategy preference for the Cochlear™ Nucleus®CI24RE device: Relati…
2010
Current cochlear implants can operate at high pulse rates. The effect of increasing pulse rate on speech performance is not yet clear. Habituation to low rates may affect the outcome. This paper presents the results of three subsequent studies using different experimental paradigms, applying the Nucleus CI24RE device, and conducted by ten European implant teams. Pulse rate per channel varied from 500 to 3500 pulses per second with ACE and from 1200 to 3500 pps with CIS strategy. The results showed that the first rate presented had little effect on the finally preferred rate. Lower rates were preferred. The effect of pulse rate on word scores of post-linguistic implantees was small; high rat…
Prenatal diagnosis of a rhodopsin mutation using chemical cleavage of the mismatch
2002
Objective: Mutations of the rhodopsin gene are responsible for autosomal dominant or recessive retinitis pigmentosa (RP). The present study reports the first prenatal diagnosis performed on chorionic villi biopsy of a pregnant woman affected by a severe form of autosomal dominant transmitted RP, due to the Arg135Trp substitution. Methods: The rhodopsin gene was analysed by automated direct sequencing and, for the first time, by fluorescence-assisted mismatch analysis (FAMA). The latter is an inexpensive, rapid and particularly sensitive method, based on the chemical cleavage of the mismatch in heteroduplex DNA molecules marked with strand-specific fluorophores. Results: FAMA is a feasible p…