998 resultados para congenital disorders
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Abstract A male child born at 27 weeks, weighting 1305 g and presenting with a right-sided abdominal tumor. Computed tomography scan demonstrated the presence of a solid mass compressing the right kidney. Puncture biopsy revealed congenital mesoblastic nephroma. The patient underwent total right nephroureterectomy, and died on the second day after surgery.
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Aim. To evaluate the usefulness of COOP/WONCA charts as a screening tool for mental disorders in primary care in the immigrant healthcare users in Salt. To measure self-rated health of Salt immigration population using the COOP / WONCA charts and to assess its associated factorsDesign. Descriptive and transversal study, Participants. 370 non-EU immigrants seniors selected by consecutive sampling stratified by sexMain measures. Personal information will be collected (age, sex, country of origin, years of residency in Spain, number of people living in the household and associated comorbidities). Each participant will complete the COOP/WONCA charts. An analysis of the validity of the diagnostic test will be done: sensibility, specificity, positive predictive value, negative predictive value, ROC curve and area under the curve (AUC). All variables will be subjected to descriptive analysis. Bivariate and multivariate analysis between the variables collected (sex, years of residency in Spain... ) and the results of COOP / WONCA charts will be performedResults. Preliminary results are available on a pilot test with 30 patients. The mental disorder prevalence is around 30%. Sensibility (0,89), specificity (0,89), VPP (0,80), VPN (0,94) cutoff score (3.5) and AUC (0,941). Women, people with 10 or more years of residency in Spain and unemployed people have worse self-rated healthConclusions. Based on the preliminary results, is possible to conclude that COOP/WONCA charts could be an useful, valid and applicable screening test for mental disorders in primary care with immigrant population
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Hamstring muscle injuries and tendon disorders are common, especially in sports. They can be severe and difficult to treat, often resulting in impaired athletic performance and long rehabilitation times. Previous studies considering treatment of these problems are scarce. The current study was designed to investigate the effect of surgery on different types of hamstring muscle injuries and on proximal hamstring tendinopathy. In addition, we wanted to study the typical histopathological findings relating to proximal hamstring tendinopathy. In the study of complete (all three muscles torn) proximal hamstring avulsions (41 patients), our results showed that early operative treatment gives significantly better results than late surgery, and is therefore recommended. Despite this, considerable improvement of symptoms could also be achieved in chronic cases. In the study of partial (one or two muscles torn) proximal hamstring tears (47 patients), we observed that these injuries can cause significant functional deficit and impaired performance in athletes. The main finding was that after surgical repair most of the patients were able to return to their pre-injury level of sports. In the study of distal hamstring tears (18 patients), the results showed that surgical treatment had a good effect in the majority of these cases. In proximal hamstring tendinopathy, the main problem is pain which limits sports. In this study (90 patients), we found that after unsuccessful conservative treatment, surgery was a good treatment option resulting in full return to sports in most cases. In tendinopathic hamstring tendons, the morphological changes of tendinosis were largely identical to those previously described in other common (e.g. Achilles and patellar) tendinopathies. In chronic proximal hamstring avulsions, and also in reoperations, a large defect between distally retracted tendons and the ischial tuberosity may occasionally prevent anatomic reinsertion. We have described a reconstruction method using fascia lata autograft augmentation to be used in these most challenging repairs. This technique was utilized in the treatment of five patients, with encouraging results.
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Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.
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Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.
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The purpose of the present study was to examine the clinical validation of a Virtual Reality Environment (VRE) designed to normalize eating patterns in Eating Disorders (ED). The efficacy of VR in eliciting emotions, sense of presence and reality of the VRE were explored in 22 ED patients and 37 healthy eating individuals. The VRE (non-immersive) consisted of a kitchen room where participants had to eat a virtual pizza. In order to assess the sense of presence and reality produced by the VRE, participants answered seven questions with a Likert scale (0-10) during the experience, and then filled out the Reality Judgment and Presence Questionnaire (RJPQ) and ITC-Sense of Presence Inventory (ITC-SOPI). The results showed that the VRE induced a sense of presence and was felt as real for both groups, without differences in the experience of 'ease' with the VRE, sense of physical space, or the ecological validity assigned to the virtual kitchen and eating virtually. However, the ED patients reported paying more attention and experiencing greater emotional involvement and dysphoria after virtual eating. The results suggest that the VRE was clinically meaningful to the ED patients and might be a relevant therapy tool for normalizing their eating patterns.
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BACKGROUND: The World Mental Health Survey Initiative (WMHSI) has advanced our understanding of mental disorders by providing data suitable for analysis across many countries. However, these data have not yet been fully explored from a cross-national lifespan perspective. In particular, there is a shortage of research on the relationship between mood and anxiety disorders and age across countries. In this study we used multigroup methods to model the distribution of 12-month DSM-IV/CIDI mood and anxiety disorders across the adult lifespan in relation to determinants of mental health in 10 European Union (EU) countries. METHOD: Logistic regression was used to model the odds of any mood or any anxiety disorder as a function of age, gender, marital status, urbanicity and employment using a multigroup approach (n = 35500). This allowed for the testing of specific lifespan hypotheses across participating countries. RESULTS: No simple geographical pattern exists with which to describe the relationship between 12-month prevalence of mood and anxiety disorders and age. Of the adults sampled, very few aged ≥ 80 years met DSM-IV diagnostic criteria for these disorders. The associations between these disorders and key sociodemographic variables were relatively homogeneous across countries after adjusting for age. CONCLUSIONS: Further research is required to confirm that there are indeed stages in the lifespan where the reported prevalence of mental disorders is low, such as among younger adults in the East and older adults in the West. This project illustrates the difficulties in conducting research among different age groups simultaneously.
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This article describes a literature review of the influence of advertising and the media on Eating Disorders (ED). Research published in scientific journals in various fields of social sciences such as sychology, psychiatry and communication science has enabled us to conclude that the content displayed in the media, including advertising, are enhancers of disorders and contribute significantly to body issatisfaction in relation to the perceived idea of beauty, it also facilitates the development of weight loss strategies in women and gain of muscle mass in men.
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On this instrumental study we intend to analyse the factorial structure of the Screen for Child Anxiety Related Emotional Disorders (SCARED) in a Spanish sample using exploratory and confirmatory factorial analysis. As a second objective we intend to develop a short form of it for rapid screening and, finally, to analyze the reliabilities of both questionnaires. The SCARED was administered to a community sample of 1,508 children aged between 8 and 12 years. The sample was randomly split using half for the exploratory analysis and the other half for the confirmatory study. Furthermore a reduced version of the SCARED was developed using the SchmidLeiman procedure. Exploratory Factor Analysis yielded a four factor structure comprised of Somatic/panic, Generalized anxiety, Separation anxiety and Social phobia factors This structure was confirmed using Confirmatory Factor Analysis. The four factors, the full scale and the short scale showed good reliabilities. The results obtained seem to indicate that the Spanish version of the SCARED has good internal consistency, and along with other recent results, has a structure of four related factors that replicates the dimensions proposed for anxiety disorders by the DSM-IV-TR
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Background: Eating disorders are serious psychiatric disorders, which usually have their onset in adolescence. Body dissatisfaction and dieting, both common among adolescents, are recognised risk factors for eating disorders. The aim of the present study was to assess the prevalence of eating disorders in the general adolescent population, assess the risk of developing eating disorders in subgroups of dieters, and analyse longitudinal concomitants of incorrect weight perception. Method: A prospective follow-up study on 595 adolescents, aged 15 at baseline, was conducted in western Finland. The study comprised questionnaires directed at the whole study population and subsequent personal interviews with adolescents found to be screen-positive for eating disorders, at both baseline and three-year follow-up. Results: The lifetime prevalence rates for 18 year old females were 2.6 % for anorexia nervosa, 0.4 for bulimia nervosa, and 9.0 % for eating disorder not otherwise specified (EDNOS). No prevalent case of DSM-IV eating disorders was found among the male participants. Eating disorders, as well as depressive symptoms, social anxiety, and low self-esteem, was more prevalent among females who perceived themselves as being overweight, despite being normal or underweight, when compared to females with a correct weight perception. An incorrect weight perception was associated in males with social anxiety. Female adolescents dieting due to psychological distress, rather than vanity or overweight, had a fifteen-fold risk of developing an eating disorder. Conclusions: Eating disorders are common among female adolescents, and adolescents choosing to diet due to psychological distress show a markedly increased risk of developing an eating disorder. Promotion of general well-being as well as the prevention of body dissatisfaction and misdirected dieting, accompanied by early detection and proper treatment of eating disorders, is needed to reduce the incidence of and facilitate recovery in adolescents suffering from eating disorders.
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The authors report a case of an one-year-old girl with growth retardation, vomiting, aspiration pneumonias and malnutrition presenting gastroesopheal reflux and microgastria. The child was underwent a double lumen Roux-en-Y jejunal reservoir (Hunt-Lawrence pouch). This treatment improved nutritional status and growth. No others anomalies were detected. Congenital microgastria is a rare anomaly which is usually associated with other malformations. The authors reviewed the literature and recommend the gastric augmentation for the treatment for microgastria.
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OBJECTIVE: To standardize a technique for ventilating rat fetuses with Congenital Diaphragmatic Hernia (CDH) using a volume-controlled ventilator.METHODS: Pregnant rats were divided into the following groups: a) control (C); b) exposed to nitrofen with CDH (CDH); and c) exposed to nitrofen without CDH (N-). Fetuses of the three groups were randomly divided into the subgroups ventilated (V) and non-ventilated (N-V). Fetuses were collected on day 21.5 of gestation, weighed and ventilated for 30 minutes using a volume-controlled ventilator. Then the lungs were collected for histological study. We evaluated: body weight (BW), total lung weight (TLW), left lung weight (LLW), ratios TLW / BW and LLW / BW, morphological histology of the airways and causes of failures of ventilation.RESULTS: BW, TLW, LLW, TLW / BW and LLW / BW were higher in C compared with N- (p <0.05) and CDH (p <0.05), but no differences were found between the subgroups V and N-V (p> 0.05). The morphology of the pulmonary airways showed hypoplasia in groups N- and CDH, with no difference between V and N-V (p <0.05). The C and N- groups could be successfully ventilated using a tidal volume of 75 ìl, but the failure of ventilation in the CDH group decreased only when ventilated with 50 ìl.CONCLUSION: Volume ventilation is possible in rats with CDH for a short period and does not alter fetal or lung morphology.
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Alcohol consumption during pregnancy can potentially affect the developing fetus in devastating ways, leading to a range of physical, neurological, and behavioral alterations most accurately termed Fetal Alcohol Spectrum Disorders (FASD). Despite the fact that it is a preventable disorder, prenatal alcohol exposure today constitutes a leading cause of intellectual disability in the Western world. In Western countries where prevalence studies have been performed the rates of FASD exceed, for example, autism spectrum disorders, Down’s syndrome and cerebral palsy. In addition to the direct effects of alcohol, children and adolescents with FASD are often exposed to a double burden in life, as their neurological sequelae are accompanied by adverse living surroundings exposing them to further environmental risk. However, children with FASD today remain remarkably underdiagnosed by the health care system. This thesis forms part of a larger multinational research project, The Collaborative Initiative on Fetal Alcohol Spectrum Disorders (the CIFASD), initiated by the National Institute of Alcohol Abuse and Alcoholism (NIAAA) in the U.S.A. The general aim of the present thesis was to examine a cohort of children and adolescents growing up with fetal alcohol-related damage in Finland. The thesis consists of five studies with a broad focus on diagnosis, cognition, behavior, adaptation and brain metabolic alterations in children and adolescents with FASD. The participants consisted of four different groups: one group with histories of prenatal exposure to alcohol, the FASD group; one IQ matched contrast group mostly consisting of children with specific learning disorder (SLD); and two typically-developing control groups (CON1 and CON2). Participants were identified through medical records, random sampling from the Finnish national population registry and email alerts to students. Importantly, the participants in the present studies comprise a group of very carefully clinically characterized children with FASD as the studies were performed in close collaboration with leading experts in the field (Prof. Edward Riley and Prof. Sarah Mattson, Center for Behavioral Teratology, San Diego State University, U.S.A; Prof. Eugene Hoyme, Sanford School of Medicine, University of South Dakota, U.S.A.). In the present thesis, the revised Institute of Medicine diagnostic criteria for FASD were tested on a Finnish population and found to be a reliable tool for differentiating among the subgroups of FASD. A weighted dysmorphology scoring system proved to be a valuable additional adjunct in quantification of growth deficits and dysmorphic features in children with FASD (Study 1). The purpose of Study 2 was to clarify the relationship between alcohol-related dysmorphic features and general cognitive capacity. Results showed a significant correlation between dysmorphic features and cognitive capacity, suggesting that children with more severe growth deficiency and dysmorphic features have more cognitive limitations. This association was, however, only moderate, indicating that physical markers and cognitive capacity not always go hand in hand in individuals with FASD. Behavioral problems in the FASD group proved substantial compared to the typically developing control group. In Study 3 risk and protective factors associated with behavioral problems in the FASD group were explored further focusing on diagnostic and environmental factors. Two groups with elevated risks for behavioral problems emerged: length of time spent in residential care and a low dysmorphology score proved to be the most pervasive risk factor for behavioral problems. The results underscore the clinical importance of appropriate services and care for less visibly alcohol affected children and highlight the need to attend to children with FASD being raised in institutions. With their background of early biological and psychological impairment compounded with less opportunity for a close and continuous caregiver relationship, such children seem to run an especially great risk of adverse life outcomes. Study 4 focused on adaptive abilities such as communication, daily living skills and social skills, in other words skills that are important for gradually enabling an independent life, maintain social relationships and allow the individual to become integrated into society. The results showed that adaptive abilities of children and adolescents growing up with FASD were significantly compromised compared to both typically-developing peers and IQ-matched children with SLD. Clearly different adaptive profiles were revealed where the FASD group performed worse than the SLD group, who in turn performed worse than the CON1 group. Importantly, the SLD group outperformed the FASD group on adaptive behavior in spite of comparable cognitive levels. This is the first study to compare adaptive abilities in a group of children and adolescents with FASD relative to both a contrast group of IQ-matched children with SLD and to a group of typically-developing peers. Finally, in Study 5, through magnetic resonance spectroscopic imaging (MRS) evidence of longstanding neurochemical alterations were observed in adolescents and young adults with FASD related to alcohol exposure in utero 14-20 years earlier. Neurochemical alterations were seen in several brain areas: in frontal and parietal cortices, corpus callosum, thalamus and frontal white matter areas as well as in the cerebellar dentate nucleus. The findings are compatible with neuropsychological findings in FASD. Glial cells seemed to be more affected than neurons. In conclusion, more societal efforts and resources should be focused on recognizing and diagnosing FASD, and supporting subgroups with elevated risk of poor outcome. Without adequate intervention children and adolescents with FASD run a great risk of marginalization and social maladjustment, costly not only to society but also to the lives of the many young people with FASD.
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A retrospective study was conducted to identify the occurrence and types of ocular disorders in 57 Amazon parrots admitted to the Ophthalmology Service, Veterinary Teaching Hospital, School of Veterinary Medicine, University of São Paulo, Brazil from 1997 to 2006. The most frequent observed disorder was cataracts, present in 24 of the 114 examined eyes (57 parrots). Uveitis, ulcerative keratitis and keratoconjunctivitis were frequently diagnosed as well. The cornea was the most affected ocular structure, with 28 reported disorders. Uveal disorders also were commonly observed. Conjunctiva and eyelid disorders were diagnosed in lower frequency. Results suggest that cataracts are common and that cornea, lens and uvea are the most affected ocular structures in Amazon parrots.