Analysis of speech fluency in Williams syndrome

Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been fully addressed in research. In previous studies carried out with a small group of individuals with WS, we reported speech breakdowns during conversational and autobiographical narratives suggestive of language difficulties. In the current study, we characterized the speech fluency profile using an ecologically based measure - a narrative task (story generation) was collected from a group of individuals with WS (n = 30) and typically developing group (n = 39) matched in mental age. Oral narratives were elicited using a picture stimulus - the cookie theft picture from Boston Diagnosis Aphasia Test. All narratives were analyzed according to typology and frequency of fluency breakdowns (non-stuttered and stuttered disfluencies). Oral narratives in WS group differed from typically developing group, mainly due to a significant increase in the frequency of disfluencies, particularly in terms of hesitations, repetitions and pauses. This is the first evidence of disfluencies in WS using an ecologically based task (oral narrative task), suggesting that these speech disfluencies may represent a significant marker of language problems in WS. (C) 2011 Elsevier Ltd. All rights reserved.

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

Mycosis fungoides and Sézary syndrome: clinical, histopathological and immunohistochemical review and update

O artigo revisa os conceitos diagnósticos e de classificação da micose fungóide e da síndrome de Sézary a luz das publicações normativas mais recentes. Descreve a grande variabilidade de expressão clinica da micose fungóide em seus estágios iniciais assim como os aspectos histopatológicos e imuno-histoquímicos auxiliares ao diagnóstico. São descritos os critérios de diagnósticos exigidos para que se caracterize a síndrome de Sézary e o sistema de estadiamento, utilizado para ambas, micose fungóide e síndrome de Sézary.

Acquired immunodeficiency syndrome in Brazil

Aim. To describe the acquired immunodeficiency syndrome (AIDS) epidemic in Brazil and analyze the impact of federal government measures addressing the problem since its onset.Method. Retrospective review of AIDS epidemic data from its onset in 1980 up to the last published data in June 2001.Results. AIDS was first reported in Brazil in 1980. By 1988, all 27 Brazilian states had diagnosed cases, and until June 2000 more than half of Brazilian municipalities had recorded at least one case of the disease. The AIDS incidence reached its peak between 1996 and 1997 (14.7 per 100,000 population), and then declined between 1998 and 2000 to 9 per 100,000 population. In the last two decades, the proportion of deaths has been also significantly reduced. These were not random events, but reflected the efficiency of the program implemented by the Brazilian Health Ministry's Coordination on Sexually Transmitted Diseases and AIDS. The program includes an epidemiological surveillance modeling system, which records cases from several regular epidemiological bulletins; national network of diagnosis and monitoring of HIV-infected individuals (ill or not); highly active antiretroviral therapy available free to all patients; mother-infant protection program; educational programs on condom use; the introduction of the female condom; development of AIDS studies in different areas to provide practical solutions; constant preoccupation about drug costs accounting for the patent breaking; and national production of many drugs currently in use.Conclusion. Well-planned and implemented national program against AIDS can significantly reduce the burden of this disease to the population.

PP65 antigenemia in the diagnosis of cytomegalovirus infection in AIDS patients

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Dysglycemias in pregnancy: from diagnosis to treatment. Brazilian consensus statement

There is an urgent need to find consensus on screening, diagnosing and treating all degrees of DYSGLYCEMIA that may occur during pregnancies in Brazil, considering that many cases of DYSGLYCEMIA in pregnant women are currently not diagnosed, leading to maternal and fetal complications. For this reason the Brazilian Diabetes Society (SBD) and the Brazilian Federation of Gynecology and Obstetrics Societies (FEBRASGO), got together to introduce this proposal. We present here a joint consensus regarding the standardization of clinical management for pregnant women with any degree of Dysglycemia, on the basis of current information, to improve medical assistance and to avoid related complications of Dysglycemia in pregnancy to the mother and the fetus. This consensus aims to standardize the diagnosis among general practitioners, endocrinologists and obstetricians allowing the dissemination of information in basic health units, public and private services, that are responsible for screening, diagnosing and treating disglycemic pregnant patients.

Metabolic syndrome in overweight children from the city of Botucatu - São Paulo State - Brazil: agreement among six diagnostic criteria

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Clinical presentation and salivary gland histopathology of paediatric primary Sjogren's syndrome

ObjectiveExplore the presentation, diagnostic criteria and exocrine gland histopathology of paediatric primary Sjogren's syndrome (PPSjS).MethodsA case series of 8 children is reported and American-European Consensus Group (AECG-2002) criteria were examined, as well as minor labial salivary and lachrymal gland biopsies, which were scored by a pathologist blinded to outcome. For all cases, connective tissue diseases and parotid-related infectious disease were excluded.ResultsAge at onset varied from 5-13 years old; 6 were females, all followed from diagnosis up to the last visit (1-10 years). The main features at presentation were recurrent tender parotid swelling and sialectasis imaging, with decreased salivary function assessed by Tc-99 scintigraphy. Mild sicca symptoms were observed in 4/8 cases. Systemic features, including fatigue, myalgia, arthritis, tenosynovitis, joint contractures, transient Raynaud's and high ESR, were recorded at onset. Autoantibody profile was unremarkable for diagnosis, while lymphocytic infiltration of labial salivary glands and sialectasis were observed in all biopsies (8/8). In lachrymal glands, massive lymphocytic infiltration and lymphocytic gastritis were observed during complementary assessment. Flares were treated with low dose steroids and long-term use of hydroxychloroquine (5/8), although only 318 fulfilled AECG-2002 diagnostic criteria, throughout the disease course.ConclusionPPSjS is rare, slowly progressive and its early presentation is variable. Standardised diagnostic algorithms should include recurrent parotid swelling and early diagnosis should rely mostly on salivary and lachrymal gland histopathology in this age group.

Dietary factors associated with metabolic syndrome in Brazilian adults

Background: Metabolic Syndrome (MS) is defined as the association of numerous factors that increase cardiovascular risk and diet is one of the main factors related to increase the MS in the population. This study aimed to evaluate the association of diet on the presence of MS in an adult population sample.Methodology: 305 adults were clinically screened to participate in a lifestyle modification program. Anthropometric assessments included waist circumference (WC), body fat and calculated BMI (kg/m(2)) and muscle-mass index (MMI kg/m(2)). Dietary intake was estimated by 24 h dietary recall. Fasting blood was used for biochemical analysis. MS was diagnosed using NCEP-ATPIII (2001) criteria with adaptation for glucose (>= 100 mg/dL). Logistic regression (Odds ratio) was performed in order to determine the odds ratio for developing MS according to dietary intake.Results: An adequate intake of fruits, OR = 0.52 (CI:0.28-0.98), and an intake of more than 8 different items in the diet (variety), OR = 0.31 (CI: 0.12-0.79) showed to be a protective factor against a diagnosis of MS. Saturated fat intake greater than 10% of total caloric value represented a risk for MS diagnosis, OR = 2.0 (1.04-3.84).Conclusion: Regarding the dietary aspect, a risk factor for MS was higher intake of saturated fat, and protective factors were high diet variety and adequate fruit intake.

Macrophage Activation Syndrome in Juvenile Systemic Lupus Erythematosus A Multinational Multicenter Study of Thirty-Eight Patients

Objective. To describe the clinical and laboratory features of macrophage activation syndrome as a complication of juvenile systemic lupus erythematosus (SLE).Methods. Cases of juvenile SLE-associated macrophage activation syndrome were provided by investigators belonging to 3 pediatric rheumatology networks or were found in the literature. Patients who had evidence of macrophage hemophagocytosis on bone marrow aspiration were considered to have definite macrophage activation syndrome, and those who did not have such evidence were considered to have probable macrophage activation syndrome. Clinical and laboratory findings in patients with macrophage activation syndrome were contrasted with those of 2 control groups composed of patients with active juvenile SLE without macrophage activation syndrome. The ability of each feature to discriminate macrophage activation syndrome from active disease was evaluated by calculating sensitivity, specificity, and area under the receiver operating characteristic curve.Results. The study included 38 patients (20 with definite macrophage activation syndrome and 18 with probable macrophage activation syndrome). Patients with definite and probable macrophage activation syndrome were comparable with regard to all clinical and laboratory features of the syndrome, except for a greater frequency of lymphadenopathy, leukopenia, and thrombocytopenia in patients with definite macrophage activation syndrome. Overall, clinical features had better specificity than sensitivity, except for fever, which was highly sensitive but had low specificity. Among laboratory features, the best sensitivity and specificity was achieved using hyperferritinemia, followed by increased levels of lactate dehydrogenase, hypertriglyceridemia, and hypofibrinogenemia. Based on the results of statistical analysis, preliminary diagnostic guidelines for macrophage activation syndrome in juvenile SLE were developed.Conclusion. Our findings indicate that the occurrence of unexplained fever and cytopenia, when associated with hyperferritinemia, in a patient with juvenile SLE should raise the suspicion of macrophage activation syndrome. We propose preliminary guidelines for this syndrome in juvenile SLE to facilitate timely diagnosis and correct classification of patients.

The association between prune belly syndrome and dental anomalies: a case report

Background: Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged.Case presentation: The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted.Conclusion: This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

A case of Zimmermann-Laband syndrome with supernumerary teeth

Background: Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly.Methods: This case report describes the clinical presentation and periodontal findings in a 13-year-old female patient with previously undiagnosed Zimmermann-Laband syndrome.Results: Clinical and radiographic findings and genetic counseling confirmed the diagnosis of Zimmermann-Laband syndrome. The most striking oral findings were the presence of gingival enlargement involving both the maxillary and mandibular arches, anterior open bite, non-erupted teeth, and two supernumerary teeth. Periodontal treatment consisted of gingivectomy in four quadrants. Histopathologic evaluation of excised tissue supported the diagnosis of gingival fibromatosis. The patient was referred for appropriate orthodontic treatment and genetic counseling, and has been closely followed for the earliest signs of hepatosplenomegaly.Conclusions: Dental practitioners should be alert for developmental abnormalities that may occur in patients with gingival fibromatosis as this may indicate the presence of a rare disorder like Zimmermann-Laband syndrome. A comprehensive medical history and physical systemic evaluation are essential for correct diagnosis and treatment of these cases.

Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome

Background: Gingival fibromatosis is a rare condition characterized by a generalized enlargement of the buccal and lingual aspects of the attached and marginal gingiva.Methods: This case report describes the periodontal management of a 13-year-old female patient with gingival fibromatosis associated with Zimmermann-Laband syndrome. The patient presented with gingival enlargement involving the maxillary and the mandibular arches, anterior open bite, and non-erupted teeth. Periodontal treatment included gingivectomy in all four quadrants.Results: Histopathologic evaluation of the excised tissue supported the diagnosis of gingival flbromatosis. A significant improvement in esthetic appearance and eruption of the non-erupted teeth were obtained. The patient was referred for appropriate orthodontic treatment and has been closely followed for the earliest signs of recurrence of gingival enlargement.Conclusions: the successful therapy for gingival fibromatosis depends on correctly identifying the etiological factors and improving the impaired function and esthetic appearance through surgical intervention and adjunctive orthodontics. Maintaining treatment results depends on preservation of periodontal health.

Gingival primary extranodal non-Hodgkin's lymphoma as the first manifestation of acquired immunodeficiency syndrome

Background: Non-Hodgkin's lymphomas (NHLs) are a heterogeneous group of lymphoproliferative malignancies that may be associated with acquired immunodeficiency syndrome (AIDS). NHL can disseminate to extranodal sites; however, its dissemination to the jaws and mouth is not common. This report presents and discusses two unusual cases of gingival primary extranodal non-Hodgkin's lymphoma (PE-NHL) as the first manifestation of AIDS.Methods: Two mates presented with asymptomatic gingival swelling. They were examined clinically. Biopsies of the gingival tissue were evaluated using routine histologic techniques and immunohistochemistry. The patients were tested for human immunodeficiency virus (HIV) infection.Results: The clinicopathological evaluation and the serological HIV examination of the patients led us to the final diagnosis of gingival PE-NHL as the first manifestation of AIDS. Both patients were referred to an oncologist and to an infectious disease specialist and were given antineoplastic chemotherapy and highly active antiretroviral therapy. Only one patient presented a favorable clinical evolution.Conclusion: The present case reports have important clinical implications; the two unusual presentations of gingival PE-NHL contribute to information about the differential diagnosis of rapidly progressing gingival swelling.

Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome

The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB is laborious and costly, some adaptations in the polymerase chain reaction (PCR) method have been utilized for FXS screening. A previous PCR-based screening method for FXS identification utilizing small amounts of DNA was reported as simple and efficient. The aim of this study was to reproduce the mentioned PCR-based screening method for identification of expanded alleles of the FMR1 gene in Brazilian individuals and to investigate the efficiency of this method in comparison with SB. Utilizing the enzyme Expand Long Template PCR System, 78 individuals were investigated by that PCR-based screening method for FXS identification. Conclusive results were obtained for 75 samples. Considering all the allelic forms of FXS (normal [NL], premutation [PM], and full-mutation [FM]), the comparison of the PCR-based screening method with SB demonstrated 100% of accuracy, sensitivity, and specificity. However, when the PM and the FM were analyzed separately from each other, but together with the NL allele, the accuracy, sensitivity, and specificity decreased (to 42.9%-97.4%). We concluded that the PCR-based screening method was reproducible and capable of identifying all different FXS alleles, but because the differentiation between the PM and the FM alleles was not accurate, SB is still the gold-standard method for the molecular diagnosis of FXS.