Gingival juvenile xanthogranuloma in an adult patient: case report with immunohistochemical analysis and literature review

Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis (nonLCH). It is a benign and self-healing disorder that generally affects infants and children. Oral lesions in adult patients are rare, although the microscopic findings are similar to those observed in other locations. A 56-year-old white man presented with a chief complaint of a gingival mass that had appeared 6 months before and had grown slowly. An intraoral examination revealed the presence of a solitary, softened gingival mass affecting the mandibular lingual gingiva at the right central incisor area. A biopsy of the lesion showed multiple large macrophages and numerous giant cells of Touton type. The immunohistochemistry positivity for CD68, fascin, factor XIIIa, alpha-antitrypsin and negativity for S-100, beta-actin, CD1a, and desmin confirmed the diagnosis of JXG. The occurrence of adult oral JXG is extremely rare. It is a nonLCH that may present variable clinical and microscopic aspects, which leads to a diversity of clinical misdiagnoses. A precise diagnosis of these lesions requires an accurate evaluation of clinical, microscopic, and immunohistochemical features.

Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype

Fondation Philantropique

Use of cholesterol-rich nanoparticles that bind to lipoprotein receptors as a vehicle to paclitaxel in the treatment of breast cancer: pharmacokinetics, tumor uptake and a pilot clinical study

Purpose In animal experiments paclitaxel oleate associated with a cholesterol-rich nanoemulsion concentrated in the neoplastic tissues and showed reduced toxicity and increased antitumor activity compared with paclitaxel-Cremophor EL. Here, a clinical study was performed in breast cancer patients to evaluate the tumoral uptake, pharmacokinetics and toxicity of paclitaxel associated to nanoemulsions. Methods Twenty-four hours before mastectomy [(3)H]paclitaxel oleate associated with [(14)C]-cholesteryl oleatenanoemulsion or [(3)H]- paclitaxel in Cremophor EL were injected into five patients for collection of blood samples and fragments of tumor and normal breast tissue. A pilot clinical study of paclitaxel-nanoemulsion administered at 3-week intervals was performed in four breast cancer patients with refractory advanced disease at 175 and 220 mg/m(2) dose levels. Results T(1/2) of paclitaxel oleate associated to the nanoemulsion was greater than that of paclitaxel (t(1/2) = 15.4 +/- 4.7 and 3.5 +/- 0.80 h). Uptake of the [(14)C]-cholesteryl ester nanoemulsion and [(3)H]- paclitaxel oleate by breast malignant tissue was threefold greater than the normal breast tissue and toxicity was minimal at the two dose levels. Conclusions Our results suggest that the paclitaxel-nanoemulsion preparation can be advantageous for use in the treatment of breast cancer because the pharmacokinetic parameters are improved, the drug is concentrated in the neoplastic tissue and the toxicity of paclitaxel is reduced.

Polymerase chain reaction compared to other laboratory findings and to clinical evaluation in the diagnosis of cutaneous tuberculosis and atypical mycobacteria skin infection

Cutaneous tuberculosis has re-emerged in the last 15 years together with the higher incidence of pulmonary tuberculosis and multidrug resistance. The choice for a single diagnostic tool among the many available today is a challenge. Our objective was to compare polymerase chain reaction (PCR) with other exams in the diagnosis of cutaneous tuberculosis and atypical mycobacteria skin infection. PCR and a set of five different exams were performed in 32 patients (34 samples of paraffin-embedded tissue) evaluated for 3 years in a university hospital, considering the response to mycobacterial infection treatment as a positive case. PCR was the most sensitive (88%) and specific (83%) exam. Culture, immunohistochemistry and acid-fast bacilli were not in agreement with clinical response to treatment. Although PCR is a useful tool, careful clinical exam is still the gold standard for the evaluation and treatment of cutaneous tuberculosis and mycobacteria skin infection.

CAMCOG as a screening tool for diagnosis of Mild Cognitive Impairment and Dementia in a Brazilian clinical sample of moderate to high education

Background The CAMCOG is a brief neuropsychological battery designed to assess global cognitive function and ascertain the impairments that are required for the diagnosis of dementia. To date, the cut-off scores for mild cognitive impairment (MCI) have not been determined. Given the need for an earlier diagnosis of mild dementia, new cut-off values are also necessary, taking into account cultural and educational effects. Methods One hundred and fifty-seven older adults (mean age: 69.6 +/- 7.4 years) with 8 or more years of formal education (mean years of schooling 14.2 +/- 3.8) attending a memory clinic at the Institute of Psychiatry University of Sao Paulo were included. Subjects were divided into three groups according to their cognitive status, established through clinical and neuropsychological assessment: normal controls, n = 62; MCI, n = 65; and mild or moderate dementia, n = 30. ROC curve analyses were performed for dementia vs controls, MCI vs controls and MCI vs dementia. Results The cut-off values were: 92/93 for dementia is controls (AUC = 0.99: sensitivity: 100%, specificity: 95%); 95/96 for MCI vs controls (AUC = 0.83, sensitivity: 64%, specificity: 88%), and 85/86 for MCI vs dementia (AUC = 0.91, sensitivity: 81%, specificity: 88%). The total CAMCOG score was more accurate than its subtests Mini-mental State Examination, Verbal Fluency Test and Clock Drawing Test when used separately. Conclusions The CAMCOG discriminated controls and MCI from demented patients, but was less accurate to discriminate MCI from controls. The best cut-off value to differentiate controls and demented was higher than suggested in the original publication, probably because only cases of mild to moderate dementia were included. This is important given the need for a diagnostic at earlier stages of Alzheimer`s disease. Copyright (C) 2008 John Wiley & Sons, Ltd.

Sexuality in teenagers with epilepsy

Objectives: In adults with epilepsy it is well known that the epileptic syndrome, seizure frequency and antiepileptic drug use may influence sexual function and behavior. However, knowledge acquired with adult populations has been extrapolated to teenagers, based on the supposition that these patients are influenced by similar factors. This study aimed to evaluate aspects related to sexuality obtained from female adolescents with epilepsy. Methods: We carried out a prospective study of 35 female adolescents, with epilepsy, with ages from 10 to 20 years, and epileptic syndromes diagnosed according to ILAE criteria (1989). Information on sexual function and behavior of adolescents with epilepsy was evaluated by use of a standard questionnaire. Exclusion criteria were lack of menarche, previous endocrine or chronic clinical disorders, and moderate to severe mental retardation. Results: No differences were observed between the age at first sexual intercourse, sexual activity, libido and orgasm of adolescents with epilepsy when compared to controls. Epilepsy clinical variables Such as age of onset, duration and severity had no significant relationship with distinct aspects of sexual function and behavior. Conclusion: Adolescents with epilepsy represent a special patient group because, even with their chronic disorder, they have an active sexual life, despite the severity of their disorder. Therefore, aspects related to sexuality require special attention by health professionals when attending to adolescents with epilepsy. (C) 2008 Elsevier Inc. All rights reserved.

Pediatric Antiphospholipid Syndrome: Clinical and Immunologic Features of 121 Patients in an International Registry

OBJECTIVES. The purpose of this study was to obtain data on the association of antiphospholipid antibodies with clinical manifestations in childhood and to enable future studies to determine the impact of treatment and long-term outcome of pediatric antiphospholipid syndrome. PATIENTS AND METHODS. A European registry extended internationally of pediatric patients with antiphospholipid syndrome was established as a collaborative project of the European Antiphospholipid Antibodies Forum and Lupus Working Group of the Pediatric Rheumatology European Society. To be eligible for enrollment the patient must meet the preliminary criteria for the classification of pediatric antiphospholipid syndrome and the onset of antiphospholipid syndrome must have occurred before the patient`s 18th birthday. RESULTS. As of December 1, 2007, there were 121 confirmed antiphospholipid syndrome cases registered from 14 countries. Fifty-six patients were male, and 65 were female, with a mean age at the onset of antiphospholipid syndrome of 10.7 years. Sixty (49.5%) patients had underlying autoimmune disease. Venous thrombosis occurred in 72 (60%), arterial thrombosis in 39 (32%), small-vessel thrombosis in 7 (6%), and mixed arterial and venous thrombosis in 3 (2%). Associated nonthrombotic clinical manifestations included hematologic manifestations (38%), skin disorders (18%), and nonthrombotic neurologic manifestations (16%). Laboratory investigations revealed positive anticardiolipin antibodies in 81% of the patients, anti-beta(2)-glycoprotein I antibodies in 67%, and lupus anticoagulant in 72%. Comparisons between different subgroups revealed that patients with primary antiphospholipid syndrome were younger and had a higher frequency of arterial thrombotic events, whereas patients with antiphospholipid syndrome associated with underlying autoimmune disease were older and had a higher frequency of venous thrombotic events associated with hematologic and skin manifestations. CONCLUSIONS. Clinical and laboratory characterization of patients with pediatric antiphospholipid syndrome implies some important differences between antiphospholipid syndrome in pediatric and adult populations. Comparisons between children with primary antiphospholipid syndrome and antiphospholipid syndrome associated with autoimmune disease have revealed certain differences that suggest 2 distinct subgroups. Pediatrics 2008; 122: e1100-e1107

Clinical Treatment of Ocular Demodex folliculorum by Systemic Ivermectin

PURPOSE: To report clinical outcomes of the treatment of ocular Demodex folliculorum with oral ivermectin. DESIGN: Noncomparative, interventional case series. METHODS: Setting. Institutional. Study Population. Twenty-four eyes of 12 patients (3 male and 9 female; mean age +/- standard deviation, 50.4 +/- 21.0 years) with refractory posterior blepharitis with the presence of D. folliculorum in lash samples were enrolled in this study. Intervention. Patients were instructed to take 1 dose of oral ivermectin (200 mu g/kg). All patients were instructed to repeat the treatment after 7 days. Main outcome measures. Tear meniscus height, Schirmer I test results, noninvasive tear film break-up time (BUT), quantification of the absolute number of D. folliculorum found in the lashes, and corneal fluorescein and rose bengal staining scores were obtained from all patients 1 day before and 28 days after treatment. RESULTS: Statistical improvement was observed in the absolute number of D. folliculorum found in the lashes after the treatment with oral ivermectin. Average values of Schirmer I test results and tear film break-up time improved statistically after the treatment of oral ivermectin. No statistical improvement was observed in average lacrimal meniscus height or value of corneal fluorescein and rose bengal staining after treatment with oral ivermectin. CONCLUSIONS: Ivermectin successfully reduced the number of D. folliculorum found in the lashes of patients with refractory blepharitis. Oral ivermectin may be very useful as a complement in the treatment of D. folliculorum infestation with ocular manifestation, especially in cases of unsuccessful treatment related to patient compliance. (Am J Ophthalmol 2011;151:1030-1034. (C) 2011 by Elsevier Inc. All rights reserved.)

Epidemiologic and clinical survey of victims of centipede stings admitted to Hospital Vital Brazil (Sao Paulo, Brazil)

We retrospectively analyzed 98 proven cases of centipede stings admitted to Hospital Vital Brazil, Butantan Institute, Sao Paulo, Brazil, between 1990 and 2007. Most stings occurred at the metropolitan area of Sao Paulo city (n = 94, 95.9%), in the domiciles of patients (n = 67, 68.4%), and during the warm-rainy season (n = 60, 61.2%). The mean age of the victims was 32.0 +/- 18.8-years-old. Cryptops and Otostigmus genera were responsible for most cases. Around 86% of the patients sought medical care within 6 h after the sting. Both lower (56.1%) and upper limbs (41.8%) were most frequently bitten, especially the feet and hands (89.8%). The most frequent local clinical manifestations were pain (94.9%), erythema (44.9%) and edema (21.4%), and the latter was mainly observed in patients bitten by Otostigmus spp. Supportive treatment was used in only 28.6% of the patients, namely administration of local anesthesia (9.2%) and systemic analgesia (13.3%). No sequels or complications were observed in patients, and the prognostic was benign. (c) 2008 Elsevier Ltd. All rights reserved.

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome ( OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.

Cardiovascular Risk and Clinical Factors in Athletes: 10 Years of Evaluation

DE MATOS, L. D. N. J., N. D. A. O. CALDEIRA, P. D. S. PERLINGEIRO, I. L. G. DOS SANTOS, C. E. NEGRAO and L. F. AZEVEDO. Cardiovascular Risk and Clinical Factors in Athletes: 10 Years of Evaluation. Med. Sci. Sports Exerc., Vol. 43, No. 6, pp. 943-950, 2011. Purpose: Preparticipation screening in athletes is a very current but controversial theme. Part of this controversy is due to the cost benefit, especially when the screening is merely used as a prevention of sudden cardiac death caused by rare and hereditary diseases. The purpose of this study was to describe the prevalence of preexisting diseases, cardiovascular risk factor for cardiovascular diseases development, and hematological profile in a population of amateur and professional athletes. Methods: Data of 623 athletes (529 men and 94 women), aged 13-77 yr, were analyzed to detect preexisting diseases. The variables total cholesterol, LDL, HDL, triglycerides, fasting glucose, body mass index, hemoglobin, hematocrit, and ferritin were analyzed in two groups according to age, that is, younger and older 35 yr old, and their prevalence (%) and distribution in quartiles were presented. chi(2) test and Pearson product-moment correlation coefficients between variables were applied, and P < 0.05 was adopted for significance. Results: Hypertension was the most prevalent preexisting diseases, although the data showed low prevalence of cardiomyopathy. Cardiovascular risk factors were prevalent in both genders. There were positive correlations between cardiovascular risk factors and age and between body mass index and lipid levels in male athletes. Also, there was a high prevalence of low ferritin levels for women, with positive correlation between the levels of hemoglobin and ferritin. Conclusions: In the present study, hypertension was the most prevalent diagnosed disease, and cardiovascular risk factors showed important prevalence, especially in athletes older than 35 yr. Although physical training represents a cardioprotective factor to the onset of cardiovascular disease, it does not exclude the prevalence of risk factors and diseases in athletes.

Neurosyphilis in HIV-infected patients: Clinical manifestations, serum venereal disease research laboratory titers, and associated factors to symptomatic neurosyphilis

Goal: To describe clinical and laboratory features of human immunodeficiency infection (HIV)-infected patients with neurosyphilis. Study Design: Retrospective study of 27 consecutive cases of HIV-infected patients with a positive Venereal Disease Research Laboratory (VDRL) in cerebrospinal fluid (CSF). Results: Median of age was 36 years and 89% were men. Ten (37%) patients had previous nonneurologic syphilis treatment. At the time of neurosyphilis diagnosis, 10 (37%) patients had early syphilis, and 6 of them were neurologically asymptomatic. Nine (33%) patients had symptomatic neurosyphilis. Twenty-six (96%) patients were classified with early neurosyphilis. The medians of serum VDRL and CD4(+) T cell counts were 1:128 and 182 cell/mu L, respectively. Twenty five (93%) patients presented serum VDRL titers >= 1:16. Five of 6 patients with early syphilis and asymptomatic neurosyphilis, presented serum VDRL >= 1:16. Symptomatic patients showed lower CD4(+) T cell counts (59 cell/mu L vs. 208 cell/mu L, P = 0.03) and higher protein concentration on CSF (118 mg/dL vs. 39 mg/dL, P <0.001) than asymptomatic patients. Conclusions: Most patients had early and asymptomatic neurosyphilis, and more than one third had early syphilis. Patients with symptomatic neurosyphilis showed lower CD4(+) T cell counts and higher protein concentration on CSF than those asymptomatic. Most patients had serum VDRL titers >= 1:16, regardless of syphilis stage.

Dengue and dengue hemorrhagic fever among adults: Clinical outcomes related to viremia, serotypes, and antibody response

Background. Clinical manifestations of dengue vary in different areas of endemicity and between specific age groups, whereas predictors of outcome have remained controversial. In Brazil, the disease burden predominantly affects adults, with an increasing trend toward progression to dengue hemorrhagic fever (DHF) noted. Methods. A cohort of adults with confirmed cases of dengue was recruited in central Brazil in 2005. Patients were classified according to the severity of their disease. Associations of antibody responses, viremia levels (as determined by real-time polymerase chain reaction [PCR]), and serotypes (as determined by multiplex PCR) with disease severity were evaluated. Results. Of the 185 symptomatic patients > 14 years of age who had a confirmed case of dengue, 26.5% and 23.2% were classified as having intermediate dengue fever (DF)/ DHF (defined as internal hemorrhage, plasma leakage, manifested signs of shock, and/ or thrombocytopenia [platelet count, <= 50,000 platelets/mm(3)]) and DHF, respectively. The onset of intermediate DF/ DHF and DHF occurred at a late stage of disease, around the period of defervescence. Patients with DHF had abnormal liver enzyme levels, with a > 3-fold increase in aspartate aminotransferase level, compared with the range of values considered to be normal. Overall, 65% of patients presented with secondary infections with dengue virus, with such infection occurring in similar proportions of patients in each of the 3 disease category groups. Dengue virus serotype 3 (DV3) was the predominant serotype, and viremia was detected during and after defervescence among patients with DHF or intermediate DF/ DHF. Conclusions. Viremia was detected after defervescence in adult patients classified as having DHF or intermediate DF/ DHF. Secondary infection was not a predictor of severe clinical manifestation in adults with infected with the DV3 serotype.