124 research outputs found
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
Buschke-Lowenstein tumor: Use of dermal matrix for reconstruction of genital area
none8noBuschke-Lowenstein tumor (BLT) is a rare giant condyloma acuminatum of the anogenital region, first described by Buschke and Lowenstein as a potential malignant condyloma acuminatum. A 64-year-old Moroccan man was referred to our dermatology department with a 10-year-history of a growing mass in the genital region. A diagnosis of giant condyloma acuminatum was made based on clinical and histopathological features. We opted for a two-stage surgical procedure. The first stage consisted in tumor removal with clinically safe margins and positioning of an Integra® Matrix Wound Dressing. After 3 weeks the silicone top layer was removed and a thin split-thickness skin graft was applied.At the 1 year follow-up, the patient still presented an adequate reconstruction of the area and an acceptable cosmesis, without any complication or signs of recurrences.noneCondorelli A.G.; Ferrari B.; Francomano M.; Rocco B.; Sighinolfi M.C.; Giacomelli L.; Pignatti M.; Magnoni C.Condorelli A.G.; Ferrari B.; Francomano M.; Rocco B.; Sighinolfi M.C.; Giacomelli L.; Pignatti M.; Magnoni C
Letter to the editor regarding “Atlantoaxial dislocation due to os odontoideum in patients with Down’s syndrome: literature review and case reports”
Validation of the Italian version of the Devaluation consumers' Scale and the Devaluation Consumers Families Scale
Objectives: This study aimed to assess the psychometric properties of the Italian versions of the Devaluation of Consumers Scale (DCS) and the Devaluation of Consumer Families Scale (DCFS), two short-scales examining public stigma towards people with mental disorders and their relatives. Methods: The scales were administered to 117 individuals with a clinical diagnosis of affective or non-affective psychoses (ICD 10 criteria F20-29, F30-33). Translation procedures were carried out according to accepted standards. Internal reliability was assessed using Cronbach's alpha coefficient. Convergent validity was evaluated in terms of correlation with the Global Functioning Scale (GAF) and with the Questionnaire on Users' Opinions (QUO). Known-group validity was assessed comparing patients at first-episode of psychosis and patients with a history of psychosis of at least 3 years (long-term psychosis). Results: The overall Cronbach's alpha value was 0.85 for DCS and 0.81 for DCFS; subscales' alpha values ranged from 0.80 to 0.55 for DCS, and from 0.68 to 0.55 for DCFS. Negative correlations were found between the Italian DCS and the DCFS total score and the QUO affective problems (DCS -0.33; DCFS -0.235) and social distance subscales (DCS -0.290; DCFS -0.356). Moreover, the GAF positively correlated with some of the DCS and DCFS subscales. Patients with long-term psychosis had higher scores in most DCS and DCFS subscales. Conclusion: The Italian translation of DCF and DCFS showed good internal consistency, known-group validity, and convergent validity. These psychometric properties support their application in routine clinical practice in Italy as well as their use in international studies
Refractory Syncope and Presyncope Associated with Atlantoaxial Instability: Preliminary Evidence of Improvement Following Surgical Stabilization
Background
The proclivity to atlantoaxial instability (AAI) has been widely reported for conditions such as rheumatoid arthritis and Down syndrome. Similarly, we have found a higher than expected incidence of AAI in hereditary connective tissue disorders. We demonstrate a strong association of AAI with manifestations of dysautonomia, in particular syncope and lightheadedness, and make preliminary observations as to the salutary effect of surgical stabilization of the atlantoaxial motion segment.
Methods
In an institutional review board–approved retrospective study, 20 subjects (16 women, 4 men) with hereditary connective tissue disorders had AAI diagnosed by computed tomography. Subjects underwent realignment (reduction), stabilization, and fusion of the C1-C2 motion segment. All subjects completed preoperative and postoperative questionnaires in which they were asked about performance, function, and autonomic symptoms, including lightheadedness, presyncope, and syncope.
Results
All patients with AAI reported lightheadedness, and 15 had refractory syncope or presyncope despite maximal medical management and physical therapy. Postoperatively, subjects reported a statistically significant improvement in lightheadedness (P = 0.003), presyncope (P = 0.006), and syncope (P = 0.03), and in the frequency (P < 0.05) of other symptoms related to autonomic function, such as nausea, exercise intolerance, palpitations, tremors, heat intolerance, gastroesophageal reflux, and sleep apnea.
Conclusions
This study draws attention to the potential for AAI to present with syncope or presyncope that is refractory to medical management, and for surgical stabilization of AAI to lead to improvement of these and other autonomic symptoms
The role of antioxidants supplementation in clinical practice. focus on cardiovascular risk factors
Oxidative stress may be defined as an imbalance between reactive oxygen species (ROS) and the antioxidant system to counteract or detoxify these potentially damaging molecules. This phenomenon is a common feature of many human disorders, such as cardiovascular disease. Many of the risk factors, including smoking, hypertension, hypercholesterolemia, diabetes, and obesity, are associated with an increased risk of developing cardiovascular disease, involving an elevated oxidative stress burden (either due to enhanced ROS production or decreased antioxidant protec-tion). There are many therapeutic options to treat oxidative stress-associated cardiovascular dis-eases. Numerous studies have focused on the utility of antioxidant supplementation. However, whether antioxidant supplementation has any preventive and/or therapeutic value in cardiovascular pathology is still a matter of debate. In this review, we provide a detailed description of oxidative stress biomarkers in several cardiovascular risk factors. We also discuss the clinical implications of the supplementation with several classes of antioxidants, and their potential role for protecting against cardiovascular risk factors
Perceived stigma in patients affected by psychosis: Is there an impact on relapse?
Introduction The World Health Organization (WHO) considers
stigma of mental illness as a crucial problem (WHO, 2001). Stigma
contributes to the onset (Morgan et al., 2010) and the outcome of
people affected by schizophrenia (Himan, 2015).
Objectives To evaluate the perception of patients affected by psychotic
disorders of being stigmatized by the community.
Aims To compare the perception of stigma among subgroups of
patients at different stage of their disorder.
Methods Thirty-five patients affected by a first-episode of psychosis
(FEP) and 96 patients affected by chronic psychosis were
recruited. The Devaluation of Consumers Scale (DCS) and the Devaluation
of Consumer Families Scale (DCFS) were administered to
assess the perceived public stigma (Struening et al., 2001). The Positive
And Negative Schizophrenic Symptoms Scale (PANSS) (Kay
et al., 1987) and the Global Assessment of Functioning (GAF) (Goldman
et al., 1992) were administered to assess psychotic symptoms
and global level of functioning.Results Patients affected by chronic psychosis perceived higher
devaluation against mental disorders than patients with a
recent onset of psychosis (Mann\u2013Whitney\u2019s U = 910.500, P = 0.017).
DCS and DCFS correlated with increased voluntary admissions
(Rho = 0.355, P = 0.002; Rho = 0.257, P = 0.029) and DCS with
increased compulsory admissions (Rho = 0.349, P = 0.003). Only
among chronic patients, DCS factor 2 was related to global level
of functioning (Rho = 0.217, P = 0.041).
Conclusions Patients affected by chronic psychotic disorders
perceived a more pessimistic attitude of the community towards
their participation in social and community life and this is related
to increased admissions and disability.
Disclosure of interest The authors have not supplied their declaration
of competing interest
Ellis-Van Creveld syndrome
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict
PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County
<p>Abstract</p> <p>Background</p> <p>Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter, a suite of query software that can solve pedigree-related problems automatically and systematically.</p> <p>Methods</p> <p>We report on how we have used new features in PedHunter to quantify the number and expected genetic contribution of founders to the OOA. The queries and utility of PedHunter programs are illustrated by examples using AGDB in this paper. For example, we calculated the number of founders expected to be contributing genetic material to the present-day living OOA and estimated the mean relative founder representation for each founder. New features in PedHunter also include pedigree trimming and pedigree renumbering, which should prove useful for studying large pedigrees.</p> <p>Results</p> <p>With PedHunter version 2.0 querying AGDB version 4.0, we identified 34,160 presumed living OOA individuals and connected them into a 14-generation pedigree descending from 554 founders (332 females and 222 males) after trimming. From the analysis of cumulative mean relative founder representation, 128 founders (78 females and 50 males) accounted for over 95% of the mean relative founder contribution among living OOA descendants.</p> <p>Discussion/Conclusions</p> <p>The OOA are a closed founder population in which a modest number of founders account for the genetic variation present in the current OOA population. Improvements to the PedHunter software will be useful in future studies of both the OOA and other populations with large and computerized genealogies.</p
Acute endothelial response to testosterone gel administration in men with severe hypogonadism and its relationship to androgen receptor polymorphism: a pilot study
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