Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients

Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- like (marfanoid) clinical presentations are commonly found. The metacarpophalangeal pattern profile (MCPP), a radiological method in which the 19 tubular hand bones are assessed, has been used in the diagnosis of various syndromes. To investigate whether the MCPP was adequate to discriminate between MFS and Marfan-like subjects, we studied 38 patients who were referred to our service because they had an MFS diagnosis, diagnostic hypothesis, or differential diagnosis or had arachnodactyly with dolichostenomelia. Two groups were formed: 1) MFS: 21 patients with a mean age of 18.3 (10.8 S.D.) years and 2) Marfan-like syndromes: 16 patients who did not meet the current criteria, with a mean age of 14.6 (4.6 S.D.) years. The MCPP was performed in each case following the classical technique, and a characteristic mean profile was obtained for group I (MFS), with Z scores ranging from 0.69 to 2.73 (1.80 ± 0.50; mean ± S.D.). In group I, three cases had no correlation with the typical MFS pattern. In group II, three cases had an MFS pattern. The correlation with the mean MCPP of MFS permitted the differential diagnosis of MFS and marfanoid syndromes with 86% sensitivity, 81% specificity, and 86% positive and 81% negative predictive values. The results suggest that MCPP can be used effectively as an auxiliary tool in the nosology of these conditions and, because there is no change in MCPP with age, can be helpful in early diagnosis.

Follicular dynamics in Mangalarga mares.

Ovarian follicular activity was studied by ultrasonography during 17 oestrous cycles in 9 Mangalarga mares during the second half of the ovulatory season. Sixteen oestrous cycles were considered normal and one 3-wave cycle showing a prolonged luteal phase was considered atypical. Daily ultrasonographic examinations were performed and the compiled data on follicular dynamics were studied retrospectively. One major wave of follicular growth was observed in 13 of the 16 normal cycles (81.25%), whereas 2 major waves occurred in 3 cycles (18.75%). The mean (+/- s.d.) days of emergence of the primary wave of follicular development in cycles containing one or 2 waves were Day 6.0 +/- 2.3 and Day 11.0 +/- 1.0, respectively. The secondary wave of follicular development in 2-wave cycles emerged on Day 0.0 +/- 3.6. The day of wave divergence for primary waves of follicular development in cycles which exhibited one or 2 major waves were Day 12.2 +/- 3.5 and Day 17.3 +/- 3.0, respectively. Divergence of secondary waves occurred in only one of the 3 cycles which exhibited 2 major follicular waves (Day 7). The mean (+/- s.d.) maximum diameters of the dominant follicle in the primary wave of oestrous cycles exhibiting one and 2 major waves were 39.0 +/- 3.9 mm and 34.7 +/- 2.5 mm, respectively. The mean (+/- s.d.) maximum diameter of the dominant follicle present in the secondary wave was 34.3 +/- 11.0 mm. The mean (+/- s.d.) lengths of the interovulatory intervals for cycles containing one and 2 major waves were 19.4 +/- 2.2 and 23.3 +/- 2.5 days, respectively. These data indicate that most Mangalarga mares show one major follicular wave during the oestrous cycle but a small percentage of mares show 2 major waves.

Um transtorno delirante somático atípico

This paper describes the case of a 38 year-old single man with a previous history of social phobia and alcoholism, who presented an unusual pathological belief during the last 9 years. He believe that the muscles of his arms were loose, separated from the bones, and that a green fluid flowed from his shoulders, running under the skin towards his fingers, and returning to the shoulders. He also reported pain, weakness and sensations of loose and fluffy muscles, besides having visual and kinesthetic hallucinations and judgement impairment. No other psychopathological manifestations were observed. There was a worsening of the complaints and depressive symptoms with the use of pimozide and no improvement with fluoxetine, venlafaxine or risperidone. He is presently taking sulpiride. Psychopathological issues and difficulties in diagnosis and treatment are discussed.

Brazilian consensus on gastroesophageal reflux disease: Proposals for assessment, classification, and management

The Brazilian Consensus on Gastroesophageal Reflux Disease considers gastroesophageal reflux disease to be a chronic disorder related to the retrograde flow of gastroduodenal contents into the esophagus and/or adjacent organs, resulting in a variable spectrum of symptoms, with or without tissue damage. Considering the limitations of classifications currently in use, a new classification is proposed that combines three criteria - clinical, endoscopic, and pH-metric - providing a comprehensive and more complete characterization of the disease. The diagnosis begins with the presence of heartburn, acid regurgitation, and alarm manifestations (dysphagia, odynophagia, weight loss, GI bleeding, nausea and/or vomiting, and family history of cancer). Also, atypical esophageal, pulmonary, otorhinolaryngological, and oral symptoms may occur. Endoscopy is the first approach, particularly in patients over 40 yr of age and in those with alarm symptoms. Other exams are considered in particular cases, such as contrast radiological examination, scyntigraphy, manometry, and prolonged pH measurement. The clinical treatment encompasses behavioral modifications in lifestyle and pharmacological measures. Proton pump inhibitors in manufacturers' recommended doses are indicated, with doubling of the dose in more severe cases of esophagitis. The minimum time of administration is 6 wk. Patients who do not respond to medical treatment, including those with atypical manifestations, should be considered for surgical treatment. Of the complications of gastroesophageal reflux disease, Barrett's esophagus presents a potential development of adenocarcinoma; biopsies should be performed, independent of Barrett's esophagus extent or location. In this regard the designation short Barrett's is not important in terms of management and prognosis. © 2002 by Am. Coll. of Gastroenterology.

Analise citotoxica de esparfloxacino e seus produtos de degradaçao em células mononucleares humanas

Sparfloxacin, a difluorquinolone derivative, is a potent antibacterial agent active against a wide range of gram-positive and gram-negative organisms including Streptococcus pneumoniae, Staphylococcus aureus, methicillin resistant S. aureus, Legionella spp, Mycoplasma spp; Chlamydia spp. and Mycobacteria. A drawback of fluorquinolones is their photoreactivity. Sparfloxacin has been studied in terms of therapeutic activities. However, few reports about analytical methods of sparfloxacin are available in the literature. The aim of this study was to determine cytotoxic effects, using sparfloxacin reference substance (SPAX-SR), sparfloxacin tablets (SPAX-COMP) and sparfloxacin tablets submitted UV light during 36 hours (SPAX-COMP.36) solution, and two isolated products (7 and 9) of SPAX-SR submitted UV-C light, in concentrations of 31.25, 62.5, 125 and 250 μg/mL by in vitro mononuclear humane culture cells. The results, statistically analyzed by Teste de Tukey, showed SPAX, SPAX-COMP and SPAX-COMP.36 solutions could reduce the cells number in these conditions. These results could not be observed for products 7 or 9. These results can suggest that isolated product can be less cytotoxic than SPAX-SR, is method can also be used to identified products degradation of sparfloxacin in stability study. However, the low activity achieved with sparfloxacin submitted to UV-light is a source of concern and requires further investigation about its photodegradation mechanism.

Rhabdomyomatous carcinoma of the thymus

Myoid cells have been described in the thymus in association with a variety of benign and malignant conditions. The presence of a benign rhabdomyomatous component in a malignant primary thymic epithelial neoplasm, however, is extremely rare. A case of poorly differentiated carcinoma of the thymus arising in the posterior mediastinum containing a prominent rhabdomyomatous component is described. The patient, a 70-year-old woman, was seen for a large posterior mediastinal mass. An open chest biopsy revealed an extensively necrotic tumor composed of islands of atypical cells with vesicular nuclei and prominent nucleoli with numerous mitotic figures admixed with abortive glandular structures. Interspersed with the malignant epithelial components were islands of large cells containing brightly eosinophilic cytoplasm and small, round, excentrically placed nuclei. Immunohistochemical studies showed strong positivity of the epithelial cells for cytokeratin and strong positivity of the myoid cells for pan-actin, desmin, and myogenin. The possible relationship of the rhabdomyomatous component of this tumor with the myoid cells of the thymus is discussed.

Ocorrência de tuberculose em um hospital psiquiátrico do interior de Goiás

Objective: To investigate the prevalence of infection, disease and eventual institutional outbreak of tuberculosis in a psychiatric hospital using the PPD test, as well as testing for mycobacteria in material collected from the respiratory tree and using molecular tracking technique based on insertion sequence 6110 (IS6110). Methods: Between February and August of 2002, PPD tests were given to 74 inpatients and 31 staff members at a psychiatric hospital in the city of Rio Verde, located in the state of Goiás, Brazil. In addition, respiratory tree material collected from the inpatients was submitted to testing for Mycobacterium tuberculosis. Results: Among the patients analyzed, mycobacteria were isolated from five (6.8%): four identified as M. tuberculosis and one as M. chelonae. The M. tuberculosis isolates were sensitive to isoniazid and rifampicin, and, when submitted to the restriction fragment length polymorphism/IS6110 technique, presented unique genetic profiles, totally distinct from one another, suggesting that all of the tuberculosis cases were due to endogenous reactivation. It was not possible to characterize this group of cases as an institutional outbreak. Performing the two-step tuberculin test in the patients, the infection rates were 23% and 31%, compared with 42% among staff members, who were submitted to the one-step test. Conclusion: The results indicate a high incidence of tuberculosis infection among inpatients and hospital staff, as well as a high occurrence of the disease among inpatients.

Rapid molecular diagnosis of tuberculosis and other mycobacteriosis in smear-negative clinical specimens

Delay in diagnosis of pulmonary and other forms of tuberculosis (TB) can be fatal, particularly in HIV-infected patients. Hence, techniques based on nucleic acid amplification, which are both rapid and of high specificity and sensitivity, are now widely used and recommended for laboratories that diagnose TB. In the present study, diagnostic methods based on mycobacterial DNA amplification were evaluated in comparative trials alongside tradicional bacterial methods, using negative smear samples from patients with clinically-suspected TB (sputum samples from 25 patients with suspected pulmonary TB, urine samples from two patients with suspected renal TB and cerebrospinal fluid samples from one patient with suspected meningeal TB). A specificity of 100% was achieved with DNA amplification methods and tradicional culture/identification methods, in relation to clinical findings and treatment results. For the smear-negative sputa, conventional PCR for M. tuberculosis was positive in 62% of suspected lung TB case, showing the same sensitivity as bacterial identification. Both techniques failed in the detection of extra-pulmonary samples. Nested PCR showed, after species-specific amplification, a sensitivity of 100% for M. avium and 85% for M. tuberculosis. For extra-pulmonary smear-negative samples, only Nested PCR detected M. tuberculosis and all cases were confirmed clinically. Nested PCR, in which two-step amplification reactions are performed, can identify the two most important mycobacteria in human pathology quickly and directly from clinical spicimens.

Medicação de alto custo para portador de sofrimento psíquico: Um estudo preliminar dos custos

The present work aims to raise the costs of high-cost drugs used to treat patients of Refractory Schizophrenia in ambulatory unit. The study was carried out in the Psychosocial Support Center, which treated 33 patients with these medications, during the period of June, 2005 to May, 2006. Data analysis disclosed that the mostly used drugs to treat the carriers of Refractory Schizophrenia were: clozapina and risperidona. It was observed that the treatment with olanzapina is more expensive than that with risperidona. The study concluded that the analysis of the consumption and costs of drugs of high cost is necessary to subside better management of the expenses and new investments in the service. Moreover, the necessity of more studies in the area was also identified to contribute with the control of costs.

Dietary restriction abrogates antibody production induced by a DNA vaccine encoding the mycobacterial 65 kDa heat shock protein

Background: Protein-calorie malnutrition (PCM) is the most common type of malnutrition. PCM leads to immunodeficiency and consequent increased susceptibility to infectious agents. In addition, responses to prophylactic vaccines depend on nutritional status. This study aims to evaluate the ability of undernourished mice to mount an immune response to a genetic vaccine (pVAXhsp65) against tuberculosis, containing the gene coding for the heat shock protein 65 from mycobacteria. Methods: Young adult female BALB/c mice were fed ad libitum or with 80% of the amount of food consumed by a normal diet group. We initially characterized a mice model of dietary restriction by determining body and spleen weights, hematological parameters and histopathological changes in lymphoid organs. The ability of splenic cells to produce IFN-gamma and IL-4 upon in vitro stimulation with LPS or S. aureus and the serum titer of specific IgG1 and IgG2a anti-hsp65 antibodies after intramuscular immunization with pVAXhsp65 was then tested. Results: Dietary restriction significantly decreased body and spleen weights and also the total lymphocyte count in blood. This restriction also determined a striking atrophy in lymphoid organs as spleen, thymus and lymphoid tissue associated with the small intestine. Specific antibodies were not detected in mice submitted to dietary restriction whereas the well nourished animals produced significant levels of both, IgG1 and IgG2a anti-hsp65. Conclusion: 20% restriction in food intake deeply compromised humoral immunity induced by a genetic vaccine, alerting, therefore, for the relevance of the nutritional condition in vaccination programs based on these kinds of constructs. © 2009 Ishikawa et al; licensee BioMed Central Ltd.

Pitiose nasal em equino

Pythiosis is a subcutaneous infection caused by aquatic fungi (Pythium insidiosum) which occurs in some animal species, as human beings. This paper describes an Quarter Horse, breed in Pernambuco, Brazil, who had this infection. The horse presented nodular and ulcerated lesions only in nasal mucosa and the diagnosis was made by histopathologic analysis and clinical signals. Based in the histopathologic findings and anamneses information by the owner the authors believed this is an atypical presentation of this infection caused by the contact with water offered at stable.

Comparative study of spermatogenesis and nucleolar behavior in testicular lobes of Euschistus heros (Heteroptera: Pentatomidae)

In some testicular lobes of the Pentatomidae there may be occurrence of atypical spermatogenesis or polymegaly, leading to the production of nonfertile sperm. The comparative analysis of spermatogenesis and nucleolar behavior in testicular lobes of Euschistus heros showed cells with polymegaly in lobes 4 and 6. Generally, when these lobes are present in the same individual, there is also the formation of atypical cells in the flanking lobe. Such characteristic was not seen in E. heros. However, differences regarding the concentration of heteropyknotic chromatin and silver-positive bodies in this lobe deserve attention. This study explored the literature and demonstrated the prevalence of some lobes in the formation of differentiated cells. It was also found in the literature that there is an association of the chromocenter with the nucleolus in several species of Pentatomidae, but in E. heros this association does not appear to occur. © 2010 Hederson Vinicius de Souza and Mary Massumi Itoyama.

Part-time work in Chile: is it precarious employment?: reflections from a gender perspective

Includes bibliography

Influence of δβ-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the São Paulo northwest population

Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in the β-globin family, which cause hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (δβ-thalassemia).The control of the production takes place by the regulatory region and regions outside the β-globin family, among them 2q16, 6q23, 8q, and Xp22.2.The aims of this study were to determine the presence and frequency of two mutations for δβ-thalassemia, the XmnI polymorphism and β-globin haplotypes in healthy individuals with increased Hb F in the State of São Paulo. We analyzed 60 samples of peripheral blood of healthy adults, without complaints of anemia. The samples were separated into two groups according to Hb F level: group I - 34 samples with Hb F ranging from 2 to 15% and group II - 26 samples with Hb F over 15%. In relation to the polymorphisms examined, we found three heterozygous individuals (5%) for Spanish δβ-thalassemia, belonging to group I, whose Hb F levels were within the normal range.The Sicilian δβ-thalassemia mutation was not found, indicating the need to study other polymorphisms related to the increase of Hb F in adult life.The frequency of XmnI polymorphism was 33.3% and the mean Hb F levels were 15.48 ± 11.69%.The frequency observed in our study for this polymorphic site is higher than that found in the literature for healthy subjects.This polymorphism was more prevalent in individuals with Hb F levels below 15%. For four samples positive for this polymorphism, the Hb F levels were explained by the presence of HPFH and Spanish δβ-thalassemia mutations, so that the presence of the XmnI polymorphic site was not a determinant in the overexpression of γ-globin genes. Regarding β-globin haplotypes, 18 alleles and 27 distinct genotypic patterns were found.The pattern Atp1/Atp2 was the mostfrequent genotype (13.72%).Of the 18 alleles, 13 showed atypical patterns.The results show that the haplotype V was the most frequent (27.45%), followed by atypical Atp2 (13.72%) and Atp1 (11.76%), and that there was a higher correlation with the presence of HPFH and XmnI polymorphism.The high frequency of haplotype V in our samples and high frequency of atypical haplotypes may reflect a high rate of miscegenation in this population, suggesting an ethnic characteristic for the Brazilian population, requiring the evaluation of population genetic markers to corroborate this hypothesis. © FUNPEC-RP.

Squamous cell lung carcinoma in a cat

Primary lung neoplasms are rare in small animals and present variable clinical signs. Here we report a case of a 4-year-old male cat which presented with apathy, dyspnea and pleural effusion. The cytological analysis of the pleural effusion revealed massive presence of atypical cells and the histopathological examination of the lung demonstrated tissue infiltration by atypical cells arranged in solid nests. The cytological and histopathological findings were compatible with squamous cell lung carcinoma.