991 resultados para primary antiphospholipid syndrome
Resumo:
PURPOSE. This study aimed to assess the discriminative validity of the Brazilian version of the Patient Health Questionnaire (PHQ-9) and of its reduced version (PHQ-2). DESIGN AND METHODS. The sample consisted of 177 women (60 cases of depression and 117 noncases). The SCID-IV was used as the gold standard. FINDINGS. For the PHQ-9, a cutoff score equal to or higher than 10 proved to be the most adequate for the screening of depression, whereas the best cutoff score for the PHQ-2 was found to lie between 3 and 4. PRACTICE IMPLICATIONS. The systematic use of these instruments in nursing and in the context of primary health care could favor the early detection of depression.
Resumo:
We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized by the addition of new minor deficits, while worsening of previous symptoms was mild. Brain MRI revealed cerebellar atrophy, diffuse demyelination of corona radiata and parietal white matter, and bilateral and symmetrical putaminal lesions. The proportion of mutant mtDNAs in blood was 72% (+/- 0.02%) and in skeletal muscle was 81% (+/- 0.4%). Leigh-like syndrome caused by the T8993G mtDNA mutation is a progressive disease, although not necessarily associated with an aggressive clinical course. (C) 2009 Elsevier B.V. All rights reserved.
Resumo:
Objective: To evaluate the validity and applicability of the Mini International Neuropsychiatric Interview (MINI) used by family medicine residents in primary health care (PHC) in Brazil. Methods: Training for administrating the MINI was given as part of a broad psychiatry education program. Interviews were held with 120 PHC patients who were at least 15 years old. MINI was administered by 25 resident physicians, while the Structured Clinical Interview for Diagnosis (SCID) was administered by a psychiatrist blind to patients` results on the MINI, and the diagnoses on both interviews were compared. The resident physicians answered questions on the applicability of the MINI. Results: Concordance levels for any mental disorder, the broader current diagnostic categories and the most common specific diagnoses were analyzed. Kappa coefficients ranged between 0.65 and 0.85; sensitivity, between 0.75 and 0.92; specificity, between 0.90 and 0.99; positive predictive values (PPV), between 0.60 and 0.86; negative predictive values (NPV), between 0.92 and 0.99; and accuracy, between 0.88 and 0.98. The resident physicians considered MINI comprehensibility and clinical relevance satisfactory. Conclusions: These good psychometric results in a real-world setting may be related to a special training program, which is more frequent, intensive and diversified. In these conditions, the MINI is a useful tool for general practitioners. (c) 2008 Elsevier Inc. All rights reserved.
Resumo:
Objectives: To assess the development of face and hyoid bone in children with obstructive sleep apnea syndrome (OSAS) through lateral cephalometries. Materials and methods: Children aged 7-10 years with mixed dentition and with no previous otorhinolaryngologic, orthodontic or speech therapy treatments were studied. Twenty nasal breathers were compared to 20 mouth breathing children diagnosed as OSAS patients. All children underwent otorhinolaryngologic evaluation and cephalometries; children with OSAS also underwent nocturnal polysomnography in a sleep laboratory. Results: Children with OSAS presented increase in total and lower anterior heights of the face when compared to nasal breathers. In addition, children with OSAS presented a significantly more anterior and inferior position of the hyoid bone than nasal breathers. No significant differences in upper, anterior or posterior heights of the face were observed between groups. Conclusion: The results suggest that there are evident and early changes in facial growth and development among children with OSAS, characterized by increased total and inferior anterior heights of the face, as well as more anterior and inferior position of the hyoid bone. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
Resumo:
There is evidence that intrauterine growth restriction, resulting in newborn girls that are small for gestational age (SGA), may be related to the onset of polycystic ovary syndrome (PCOS). Thus, we studied whether women born SGA have a higher prevalence of PCOS than women born appropriate for gestational age (AGA). This was a prospective birth cohort study of 384 women born at term between June 1, 1978, and May 31, 1979, in Ribeirao Preto, Brazil. After exclusion, 165 women effectively participated in this study, of whom 43 were SGA and 122 were AGA. The prevalence of PCOS was analysed. At a mean age of 29 years, the women agreed to follow the study protocol, which included: anamnesis, physical examination, serum tests [follicle stimulating hormone, luteinizing hormone, total and free testosterone, dehydroepiandrostenedione sulphate, 17-OH-progesterone, fasting insulin, sex steroid-binding globulin (SHBG) and fasting glucose] and pelvic ultrasound. Data regarding gestational age, birthweight, age at menarche and maternal data were obtained from the files of the cohort. The adjusted relative risk (RR) values of the SGA, insulin resistance, body mass index, maternal smoking and parity variables were analysed using Poisson regression with robust adjustment of variance for the prediction of PCOS. The prevalence of PCOS was higher in the SGA group than in the AGA group [adjusted RR = 2.44, 95% CI (1.39-4.28)]. Hyperandrogenism was more prevalent in the SGA women than in the AGA women (P = 0.011). Circulating SHBG was lower in the SGA women than in the AGA women (P = 0.041), but fasting insulinemia was similar in both groups. The prevalence of PCOS in SGA women was twice as high as in AGA women in our study population.
Resumo:
We report a 2-year-old child with extrahepatic portal venous obstruction, hepatoportal sclerosis and pulmonary thromboembolism whose sole hypercoagulability factor was the presence of anti-phospholipid antibodies.
Resumo:
Aicardi-Goutieres syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.
Resumo:
Bacterial and fungal infections are common in acquired immunodeficiency syndrome (AIDS). Histoplasmosis is a common fungal disease in severely immunocompromised patients infected with human immunodeficiency virus (HIV) in endemic areas. In this population the most frequent form of presentation of histoplasmosis is disseminated, with the clinical manifestations being similar to those of disseminated tuberculosis. Esophageal histoplasmosis and the association of histoplasmosis with tuberculosis are infrequent. We report here a rare Case of esophageal histoplasmosis associated with disseminated tuberculosis in AIDS.
Resumo:
The mechanism of isoproterenol-induced myocardial damage is unknown, but a mismatch of oxygen supply vs. demand following coronary hypotension and myocardial hyperactivity is the best explanation for the complex morphological alterations observed. Severe alterations in the structural integrity of the sarcolemma of cardiomyocytes have been demonstrated to be caused by isoproterenol. Taking into account that the sarcolemmal integrity is stabilized by the dystrophin-glycoprotein complex (DGC) that connects actin and laminin in contractile machinery and extracellular matrix and by integrins, this study tests the hypothesis that isoproterenol affects sarcolemmal stability through changes in the DGC and integrins. We found different sensitivity of the DGC and integrin to isoproterenol subcutaneous administration. Immunofluorescent staining revealed that dystrophin is the most sensitive among the structures connecting the actin in the cardiomyocyte cytoskeleton and the extracellular matrix. The sarcomeric actin dissolution occurred after the reduction or loss of dystrophin. Subsequently, after lysis of myofilaments, gamma-sarcoglycan, beta-dystroglycan, beta 1-integrin, and laminin alpha-2 expressions were reduced followed by their breakdown, as epiphenomena of the myocytolytic process. In conclusion, administration of isoproterenol to rats results in primary loss of dystrophin, the most sensitive among the structural proteins that form the DGC that connects the extracellular matrix and the cytoskeleton in cardiomyocyte. These changes, related to ischaemic injury, explain the severe alterations in the structural integrity of the sarcolemma of cardiomyocytes and hence severe and irreversible injury induced by isoproterenol.
Resumo:
Background: Metabolic syndrome (MS) prevalence between different populations in obese adolescents is scanty to date. Objective: To compare the MS prevalence and related risk factors in Brazilian and Italian obese adolescents. Methods: A total of 509 adolescents (110 Brazilian, 399 Italian), aged 15-19 years. Anthropometric characteristics, triglycerides (TG), total, low-density lipoprotein (LDL)-, high-density lipoprotein (HDL)-cholesterol, fasting plasma glucose (FPG), insulin, homeostasis model assessment of insulin resistance (HOMA-IR) and blood pressure were measured. Results: Age, body mass index (BMI) and BMI z-score were not significantly different between the two subgroups. BMI z-score, TG, FPG, HOMA-IR and systolic blood pressure (SBP) were significantly higher in boys than in girls both in Brazilian and Italian adolescents, while HDL-cholesterol levels were lower in boys than in girls. No significant differences were observed in BMI, LDL and total-cholesterol and DBP in two genders and groups. Insulin, FPG, HOMA-IR and TG were significantly higher, while LDL-cholesterol and SBP were significantly lower in Brazilian than in Italian subjects, both in males and females. HDL and total-cholesterol and diastolic blood pressure (DBP) were not significantly different between the two subgroups and genders. MS prevalence was higher in Brazilian than in Italian obese boys (34.8 vs. 23.6%, p < 0.001) and girls (15.6 vs. 12.5%, p < 0.01). The most frequently altered parameter was HOMA-IR both in subjects with MS (100% in Brazilian and 81.8% in Italian) and without MS (42.9% and 11.7%). Conclusion: Metabolic syndrome represents a worldwide emerging health problem in different ethnical populations, the alterations of the risk factors related to MS (different in their prevalence between different subgroups) being strictly linked to the degree of obesity.
Resumo:
The aim of this investigation was to assess the diagnostic accuracy of intraoperative cultures for the early identification of patients who are at risk of infection after primary total hip arthroplasty. Four or six swabs were obtained immediately before the wound closure in 263 primary total hip replacements. Patients with a maximum of one positive culture were denoted as patients with a normal profile and did not receive any treatment. Patients with two or more positive cultures, with the same organism identified, were denoted as patients with a risk profile and received treatment with a specific antibiotic as determined by the antibiogram for six weeks. The follow-up ranged from a minimum of one year to five years and eleven months, concentrating on the presence or absence of infection, which was defined as discharge of pus through the surgical wound or as a fistula at any time after surgery. The accuracy of this procedure ( number of cases correctly identified in relation to the total number of cases) in the group of 152 arthroplasties in which 4 swabs per patient were collected was 96%. In the group of 111 arthroplasties in which 6 swabs per patient were collected the accuracy was 95.5%. We conclude that the collection of swabs under the conditions described is a method of high accuracy ( above 95%) for the evaluation of risk of infection after primary total hip arthroplasty.
Resumo:
Objective: To determine the relationships between eccentric hip and knee torques, symptom severity and functional capacity in females with patellofemoral pain syndrome (PFPS). Design: Within-subject correlational study. Setting: University biomechanics laboratory. Participants: 10 females diagnosed with PFPS. Main outcome measures: Eccentric strength of the hip abductors and lateral rotators, and knee extensors were assessed using an isokinetic dynamometer. A 10-cm visual analog scale was used to determine usual knee pain in the last week. The Anterior Knee Pain Scale (AKPS) was used to determine the functional capacity of the patients. Results: The study found that the greater the eccentric knee extensor and hip lateral rotator torques, the higher the functional capacity of the patients (p = 0.02, r = 0.72; p = 0.02, r = 0.72). It was also shown that the greater hip lateral rotator torque, the less the usual pain reported in the last week (p = 0.004, r = -0.84). Despite the lack of statistical significance (p = 0.11), it was also found a modest negative relationship between the eccentric knee extensor torque and the usual pain reported in the last week (r = -0.56) that was considered clinically meaningful (d = 1.4). Conclusions: This study showed that eccentric knee extensor and hip lateral rotator torques were associated with functional capacity and pain level in females with PFPS. Further investigations should be carried out to verify the effects of an intervention program focused on the eccentric action of these muscles with respect to the symptoms in patients with PFPS. (C) 2011 Elsevier Ltd. All rights reserved.
Resumo:
The Shwachman-Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a patient with a long history of cardiac failure and diagnosis of dilated cardiomyopathy with intermittent neutropenia. Periodic follow-up revealed progressive cardiac failure and pulmonary hypertension. A diagnosis of Shwachman-Diamond syndrome was made at the autopsy.
Resumo:
The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.