High-voltage electrical burn injuries: Functional upper extremity assessment

High-voltage electric injuries have many manifestations, and an important complication is the damage of the central/peripheral nervous system. The purpose of this work was to assess the upper limb dysfunction in patients injured by high-voltage current. The evaluation consisted of analysis of patients` records, cutaneous-sensibility threshold, handgrip and pinch strength and a specific questionnaire about upper limb dysfunctions (DASH) in 18 subjects. All subjects were men; the average age at the time of the injury was 38 years. Of these, 72% changed job/retired after the injury. The current entrance was the hand in 94% and grounding in the lower limb in 78%. The average burned surface area (BSA) was 8.6%. The handgrip strength of the injured limb was reduced (p < 0.05) and so also that of the three pinch types. The relationship between the handgrip strength and the DASH was statistically significant (p < 0.001) as well as the relationship between the three pinch types (p <= 0.02) to the injured limb. The ability to perceive cutaneous touch/pressure was decreased in the burnt hand, principally in the median nerve area. These data indicate a reduction of the hand muscular strength and sensibility, reducing the function of the upper limb in patients who received high-voltage electrical shock. (C) 2008 Elsevier Ltd and ISBI. All rights reserved.

Paracoccidioidomycosis in Patients Infected with and Not Infected with Human Immunodeficiency Virus: A Case-Control Study

Epidemiologic and clinical data for 53 patients with paracoccidioidomycosis and co-infected with human immunodeficiency virus (HIV) (cases) were compared with those for 106 patients with endemic paracoccidioidomycosis (controls). The prevalence of Paracoccidioides brasiliensis co-infection was estimated in 1.4% in cases of acquired immunodeficiency syndrome (AIDS). Patients co-infected with HIV were younger, less involved in agricultural occupations; 83.7% had CD4+ cell count < 200 cells/mu L. Paracoccidioidomycosis in co-infected patients usually showed a rapid progression, with more fever, frequent involvement of the lungs, and multiple extrapulmonary lesions. The response to antifungal therapy and deaths caused by paracoccidioidomycosis were similar in the two patient groups, but late relapses were more common in co-infected cases. Paracoccidioidomycosis in HIV-infected patients shows epidemiologic and clinical characteristics differing from those of the endemic disease and should be considered an AIDS-defining opportunistic infection in Latin America.

USE OF A LARGE GAUGE NEEDLE FOR PERCUTANEOUS SECTIONING OF THE ACHILLES TENDON IN CONGENITAL CLUBFOOT

Objective: To evaluate the percutaneous Achilles tendon sectioning technique using a large gauge needle for the correction of residual equinus of congenital clubfoot treated with the Ponseti method. Methods: Fifty-seven Achilles tendon sections were prospectively evaluated in thirty-nine patients with clubfoot, treated with the Ponseti method between July 2005 and December 2008. The tenotomy was performed percutaneously with a large gauge needle. Ultrasound scan was performed immediately after the section, to ascertain whether the tenotomy was complete, as well as stump separation. Results: There was complete tendon section in all cases, but the need to perform the section maneuver more than once was common, due to the persistence of the residual strands between tendon stumps. The Thompson test and dynamic ultrasound evaluation were able to detect incomplete tenotomies. The mean ultrasound measurement of the tendon gap was 5.70 +/- 2.23 mm. Two patients had abnormal bleeding, which was controlled by digital pressure and did not compromise foot perfusion. Conclusion: Percutaneous Achilles tendon sectioning with a needle proved to be efficient and safe to correct residual equinus of clubfoot treated with the Ponseti technique.

A novel role for MNTB neuron dendrites in regulating action potential amplitude and cell excitability during repetitive firing

Principal cells of the medial nucleus of the trapezoid body (MNTB) are simple round neurons that receive a large excitatory synapse (the calyx of Held) and many small inhibitory synapses on the soma. Strangely, these neurons also possess one or two short tufted dendrites, whose function is unknown. Here we assess the role of these MNTB cell dendrites using patch-clamp recordings, imaging and immunohistochemistry techniques. Using outside-out patches and immunohistochemistry, we demonstrate the presence of dendritic Na(+) channels. Current-clamp recordings show that tetrodotoxin applied onto dendrites impairs action potential (AP) firing. Using Na(+) imaging, we show that the dendrite may serve to maintain AP amplitudes during high-frequency firing, as Na(+) clearance in dendritic compartments is faster than axonal compartments. Prolonged high-frequency firing can diminish Na(+) gradients in the axon while the dendritic gradient remains closer to resting conditions; therefore, the dendrite can provide additional inward current during prolonged firing. Using electron microscopy, we demonstrate that there are small excitatory synaptic boutons on dendrites. Multi-compartment MNTB cell simulations show that, with an active dendrite, dendritic excitatory postsynaptic currents (EPSCs) elicit delayed APs compared with calyceal EPSCs. Together with high- and low-threshold voltage-gated K(+) currents, we suggest that the function of the MNTB dendrite is to improve high-fidelity firing, and our modelling results indicate that an active dendrite could contribute to a `dual` firing mode for MNTB cells (an instantaneous response to calyceal inputs and a delayed response to non-calyceal dendritic excitatory postsynaptic potentials).

Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas

Concurrent deletion at 1p/19q is a common signature of oligodendrogliomas, and it may, be identified in low-grade tumours (grade II) suggesting it represents an early event in the development of these brain neoplasms. Additional non-random changes primarily involve CDKN2A, PTEN and EGFR. Identification of all of these genetic changes has become an additional parameter in the evaluation of the clinical patients` prognosis, including good response to conventional chemotherapy. Multiple ligation-dependent probe amplification (MLPA) analysis is a new methodology that allows an easy identification of the oligodendrogliomas` abnormalities in a single step. No need of the respective constitutional DNA from each patient is another advantage of this method. We used MLPA kits P088 and P105 to determine the molecular characteristics of a series of 40 oligodendrogliomas. Deletions at I p and 19q were identified in 45% and 65% of cases, respectively. Alterations of EGFR, CDKN2A, ERBB2, PTEN and TP53 were also identified in variable frequencies among 7% to 35% of tumours. These findings demonstrate that MLPA is a reliable technique to the detection of molecular genetic changes in oligodendrogliomas.

DNA mismatch repair gene methylation in gastric cancer in individuals from northern Brazil

Gastric cancer is one of the most common malignancies. DNA methylation is implicated in DNA mismatch repair genes deficiency. In the present study, we evaluated the methylation status of MLH1, MSH2, MSH6 and PMS2 in 20 diffuse- and 26 intestinal-type gastric cancer samples and 20 normal gastric mucosal of gastric cancer patients from Northern Brazil. We found that none of the nonneoplastic samples showed methylation of any gene promoter and 50% of gastric, cancer samples showed at least one methylated gene promoter. Methylation frequencies of MLH1, MSH2, MSH6 and PMS2 promoter were 21.74%, 17.39%, 0% and 28.26% respectively in gastric cancer samples. MLH1 and PMS2 methylation were associated with neoplastic samples compared to nonneoplastic ones. PMS2:? methylation was associated with diffuse- and intestinal-type cancer compared with normal controls. Intestinal-type cancer showed significant association with MLH1 methylation. Diffuse-type cancer was significantly associated with MSH2 methylation. Our findings show differential gene methylation in tumoral tissue, which allows us to conclude that methylation is associated with gastric carcinogenesis. Methylation of mismatch repair genes was associated with gastric carcinogenesis and may be a helpful tool for diagnosis, prognosis and therapies. However, MSH6 does not seem to be regulated by methylation in our samples.

Isolated osseous ovarian metaplasia: Case report

Background: Some ovarian metaplasias may contain bone or osteoid tissue. The most common tumors presenting these alterations are teratomas and mixed mesodermal tumors with heterologous elements. Case report: We report the case of a woman who, during gynecologic follow-up for chronic anovulation at the age of 31 years, presented a solid ovarian ultrasonographic image with calcifications. After laparoscopy and histological examination it was found to be an isolated ovarian osseous metaplasia. Conclusion: A rarely occurring condition, ovarian osseous metaplasia continues to be of uncertain clinical significance.

Serological testing for celiac disease in women with endometriosis. A pilot study

Purpose of Investigation: Celiac disease (CD) involves immunologically mediated intestinal damage with consequent micronutrient malabsorption and varied clinical manifestations, and there is a controversial association with infertility. The objective of the present study was to determine the presence of CD in a population of infertile women with endometriosis. Methods: A total of 120 women with a diagnosis of endometriosis confirmed by laparoscopy (study group) and 1,500 healthy female donors aged 18 to 45 years were tested for CD by the determination of IgA-transglutaminase antibody against human tissue transglutaminase (t-TGA) and anti-endomysium (anti-EMA) antibodies. Results: Nine of the 120 women in the study group were anti-tTGA positive and five of them were also anti-EMA positive. Four of these five patients were submitted to intestinal biopsy which revealed CD in three cases (2.5% prevalence). The overall CD prevalence among the population control group was 1:136 women (0.66%). Conclusion: This is the first study reporting the prevalence of CD among women with endometriosis, showing that CD is common in this population group (2.5%) and may be clinically relevant.

Symptoms of Temporomandibular Disorders in the Population: An Epidemiological Study

Aims: To estimate the prevalence of symptoms of temporomandibular disorders (TMD) as a function of age and gender, in a representative urban sample from the Brazilian population. Methods: A total of 1,230 inhabitants (51.5% women) aged 15 to 65 years were interviewed by a validated phone survey. Sample size had been previously calculated. TMD symptoms were assessed through five questions, as recommended by the American Academy of Orofacial Pain, in an attempt to identify possible TMD. Data were derived by age and gender. Prevalence of each TMD symptom, and of combination of symptoms, was calculated. Results: At least one TMD symptom was reported by 39.2% of the individuals. Pain related to TMD was noted by 25.6% of the population. Temporomandibular joint (TMJ) sound was the most common symptom of TMD, followed by TMJ pain and masticatory muscle pain. All symptoms were more prevalent in women than in men. With men used as the reference, a relative risk (RR) of at least one TMD symptom in women was 1.31 (95% confidence interval [CI] = 1.14 to 1.52). When at least two symptoms were present, the RR was 1.93 (95% CI = 1.49 to 2.51). For three or more TMD symptoms, the RR was 2.49 (95% CI = 1.67 to 3.71). Women were also more likely than men to have TMD pain (RR = 1.78; 9% CI = 1.45 to 2.18). Conclusion: Individual symptoms, as well as a combination of TMD symptoms, are prevalent in the Brazilian urban population and are more frequent in women than in men. Additional studies should focus on risk factors for and relevance of TMD for the sufferers. J OROFAC PAIN 2010;24:270-278

Multi-system neurological disease is common in patients with OPA1 mutations

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal `dominant optic atrophy plus` variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers. Bilateral sensorineural deafness beginning in late childhood and early adulthood was a prominent manifestation, followed by a combination of ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards. We also identified novel clinical presentations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illness. In contrast to initial reports, multi-system neurological disease was associated with all mutational subtypes, although there was an increased risk with missense mutations [odds ratio = 3.06, 95% confidence interval = 1.44-6.49; P = 0.0027], and mutations located within the guanosine triphosphate-ase region (odds ratio = 2.29, 95% confidence interval = 1.08-4.82; P = 0.0271). Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.

Angiogenic non-Hodgkin T/natural killer (NK)-cell lymphoma: Report of three cases

Angiogenic T/natural killer (NK)-cell lymphoma is a non-Hodgkin lymphoma characterized by necrosis and vascular destruction that is strongly associated with Epstein-Barr virus and AIDS. Early diagnosis is essential to improve the chances of patient survival, but severe local inflammatory infiltrate impairs histologic diagnosis by obscuring neoplastic cells. The most common markers are CD2, CD56, cytoplasmic CD3, and CD43 EBV We describe 3 cases of angiogenic T/NK-cell lymphoma that show the diverse Presentation of the same disease. Patient I was HIV positive and had nasal obstruction, facial edema, and ulceration of the nasal mucosa. Patient 2 had fever, a sore throat, and weight loss. Patient 3 had facial edema, fever, proptosis, and rapid development Of neurologic alterations. Several biopsies were needed for histologic confirmation in these patients, despite positivity for the CD3 and CD56 markers.

Comparison of clinical features and drug therapies among European and Latin American patients with juvenile dermatomyositis

Objective To compare the demographic features, presenting manifestations, diagnostic investigations, disease course, and drug therapies of children with juvenile dermatomyositis (JDM) followed in Europe and Latin America. Methods Patients were inception cohorts seen between 1980 and 2004 in 27 paediatric rheumatology centres. The following information was collected through the review of patient charts: sex; age at disease onset; date of disease onset and diagnosis; onset type; presenting clinical features; diagnostic investigations; course type; and medications received during disease course. Results Four hundred and ninety patients (65.5% females, mean onset age 7.0 years, mean disease duration 7.7 years) were included. Disease presentation was acute or insidious in 57.1% and 42.9% of the patients, respectively. The course type was monophasic in 41.3% of patients and chronic polycyclic or continuous in 58.6% of patients. The more common presenting manifestations were muscle weakness (84.9%), Gottron`s papules (72.9%), heliotrope rash (62%), and malar rash (56.7%). Overall, the demographic and clinical features of the 2 continental cohorts were comparable. European patients received more frequently high-dose intravenous methylprednisolone, cyclosporine, cyclophosphamide, and azathioprine, while methotrexate and antimalarials medications were used more commonly by Latin American physicians. Conclusion The demographic and clinical characteristics of JDM are similar in European and Latin American patients. We found, however, several differences in the use of medications between European and Latin American paediatric rheumatologists.

Conduct after Epley`s maneuver in elderly with posterior canal BPPV in the posterior canal

Benign Paroxysmal Positional Vertigo is the most common peripheral vestibular disorder, especially in the elderly and presents as the predominant etiology in this population of the degeneration of the utricular macula. Aim: To compare the effectiveness of the approaches after Epley maneuver. Study Design: longitudinal cohort. Materials and Methods: The study included 53 volunteers with Benign Paroxysmal Positional Vertigo of the posterior semicircular canal, divided into Group 1, who underwent Epley maneuver associated with the use of neck collar and post-maneuver instructions, Group 2 underwent the Epley maneuver without the use cervical collar and/or post-maneuver restrictions, and Group 3 underwent the Epley maneuver associated with the use of a mini vibrator, without the use of neck collar and/or post-maneuver restrictions. Results: In the three groups, the number of Epley maneuvers ranged from one to three. We employed the Brazilian Dizziness Handicap Inventory - pre- and post-treatment and observed a statistically significant difference on most scores pre- and post-treatment for both groups. Conclusion: Regardless of the post Epley maneuver treatment selected for the treatment of Benign Paroxysmal Positional Vertigo, it was effective when comparing the Brazilian Dizziness Handicap Inventory pre- and post-treatment.

Development and agronomic performance of common bean lines simultaneously resistant to anthracnose, angular leaf spot and rust

The common bean is affected by several pathogens that can cause severe yield losses. Here we report the introgression of resistance genes to anthracnose, angular leaf spot and rust in the `carioca-type` bean cultivar `Ruda`. Initially, four backcross (BC) lines were obtained using `TO`, `AB 136`, `Ouro Negro` and `AND 277` as donor parents. Molecular fingerprinting was used to select the lines genetically closer to the recurrent parent. The relative genetic distances between `Ruda` and the BC lines varied between 0.0% and 1.99%. The BC lines were intercrossed and molecular markers linked to the resistance genes were used to identify the plants containing the genes of interest. These plants were selfed to obtain the F(2), F(3) and F(4) plants which were selected based on the presence of the molecular markers mentioned and resistance was confirmed in the F(4) generation by inoculation. Four F(4:7) pyramid lines with all the resistance genes showed resistance spectra equivalent to those of their respective donor parents. Yield tests showed that these lines are as productive as the best `carioca-type` cultivars.

Case Report: Esophageal Histoplasmosis Associated with Disseminated Tuberculosis in Acquired Immunodeficiency Syndrome

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.