Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: A case report

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by sensorineural hearing loss and multiple cranial nerve palsies, usually involving the VIIth and IXth to XIIth cranial nerves. We describe the clinical and pathological features of a 33-year-old woman with BVVLS. The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. She developed status epilepticus in the setting of cardiac deterioration and respiratory infection, and died of cardiogenic and septic shock. Autopsy disclosed bilateral neuronal loss and gliosis in the inferior colliculi, locus coeruleus and facial and vestibular nuclei. Cor pulmonale is a complication of hypoventilation-induced hypoxia and hypercapnia and had not yet been reported in BVVLS. (C) 2010 Elsevier B.V. All rights reserved.

Microangiopathy of the inner ear, deafness, and cochlear implantation in a patient with Susac syndrome

Conclusion: The cochlear implant was beneficial as an attempt to restore hearing and improve communication abilities in this patient with profound sensorineural hearing loss secondary to Susac syndrome. Objective: To report the audiological outcomes of cochlear implantation (CI) in a young woman with Susac syndrome after a 6-month follow-up period. Susac syndrome is a rare disorder. It is clinically characterized by a typical triad of sensorineural deafness, encephalopathy, and visual defect, due to microangiopathy involving the brain, inner ear, and retina. Methods: This was a retrospective review of a case at a tertiary referral center. After diagnosis, the patient was evaluated by a multidisciplinary team and received a cochlear implant in her right ear. Results: The patient achieved 100% open-set sentence recognition in noise conditions and 92% monosyllable and 68% medial consonant recognition in quiet conditions after 6 months of implant use. She reported the use of the telephone 3 months after activation.

Craniofacial morphology and otitis media with effusion in children

Otitis media with effusion (OME) affects 28-38% of pre-school children, and it occurs due to the dysfunction of the auditory tube. Anatomical development of the auditory tube depends on the craniofacial growth and development. Deviations of normal. craniofacial. morphology and growth using cephatometric studies, may predict the evolution of otitis. Our goal in this paper is to determine if there are differences in craniofacial morphology between children with adenoid enlargement, with and without otitis media with effusion. This is a prospective study in which the sample consisted of 67 children (mate and female) from 5 to 10 years old. All patients presented chronic upper airway obstruction due to tonsil. and adenoid enlargement (>80% degree of obstruction). Thirty-three patients presented otitis media with effusion, for more than 3 months and 34 did not. The tatter composed the control group. Standardized lateral head radiographs were obtained for all. subjects. Radiographs were taken with patient positioned by a cephalostat and stayed with mandibles in centric occlusion and Lips at rest. Radiographs were digitalized and specific Landmarks were identified using a computer program Radiocef 2003, 5th edition. Measurements, angles and tines were taken of the basicranium, maxilla and mandible according to the modified Ricketts analysis. In addition, facial height and facial axis were determined. Children with otitis media with effusion present differences in the morphology of the face, regarding these measures: N-S (anterior cranial base length), N-ANS (upper facial height), ANS-PNS (size of the hard palate), Po-Or.N-Pog (facial depth), Ba-N.Ptm-Gn (facial axis), Go-Me (mandibular Length) and Vaia--Vaip (inferior pharyngeal airway). (C) 2008 Elsevier Ireland Ltd. All rights reserved.

Metabolism of triglyceride-rich lipoproteins and lipid transfer to high-density lipoprotein in young obese and normal-weight patients with polycystic ovary syndrome

Objective: To clarify whether the metabolism of triglyceride-rich lipoproteins and lipid transfer to high-density lipoprotein (HDL) are altered in patients with polycystic ovary syndrome (PCOS). Design: Case control study. Setting: Endocrinology clinics. Patient(s): Eight normal-weight (NW) and 15 obese (013) patients with PCOS were compared with 10 NW and 10 Ob women without PCOS paired for age and body mass index. Intervention(s): Determination of triglyceride-rich lipoprotein metabolism and lipid transfer to HDL. Main Outcome Measure(s): Participants were injected triglyceride-rich emulsions labeled with (14)C-cholesteryl esters and (3)H-triglycerides and the fractional clearance rate (FCR, in min(-1)) of labels was determined. Lipid transfer from artificial nanoemulsions to HDL was performed by incubating radioactively labeled lipid nanoemulsions with plasma during 1 hour, followed by radioactive counting of HDL-containing supernatant after chemical precipitation. Result(s): Lipolysis estimated by triglyceride FCR was equal in PCOS groups (NW = 0.043 +/- 0.032, Ob = 0.033 +/- 0.009) and respective controls (NW = 0.039 +/- 0.015, Ob = 0.044 +/- 0.019). However, the remnant removal as estimated by cholesteryl ester FCR was reduced in both PCOS groups (NW = 0.005 +/- 0.006, Ob = 0.005 +/- 0.005) compared with controls (NW = 0.016 +/- 0.006, Ob = 0.011 +/- 0.072). Lipid transfer rates were not different among groups, but triglyceride transfer rates were positively correlated with homeostasis model assessment estimate of insulin resistance in PCOS. Conclusion(s): PCOS patients showed decreased removal of atherogenic remnants even when fasting glucose was <100 mg/dL. This reinforces the usefulness of the measures taken to prevent cardiovascular events in PCOS patients. (Fertil Steril (R) 2010;93:1948-56. (C)2010 by American Society for Reproductive Medicine.)

Erectile Dysfunction and Correlated Factors in Brazilian Men Aged 18-40 years

Introduction. Few population-based studies in erectile dysfunction (ED) included subjects less than 40 years old and analyzed the several factors and consequences potentially associated with this condition. Aim. Evaluation of the prevalence of erectile dysfunction (ED) and associated factors in a sample of Brazilian men aged 18 to 40 years old. Methods. Cross-sectional study in which subjects were contacted in public places of 18 major Brazilian cities and interviewed using an anonymous questionnaire. Survey data were submitted to chi-squared, student`s t-test and logistic regression analyses. Main Outcome Measures. The data were collected by means of a self-administered questionnaire with 87 questions about sociodemographic variables, general health, habits and lifestyle-related factors, sexual behavior and sexual difficulties, including ED which was assessed by a single question. Results. Prevalence of ED in 1,947 men was 35.0% (73.7% mild, 26.3% moderate/complete). Greater frequency of ED was seen in subjects that never had information about sex, experienced difficulties in the beginning of sexual life and have never masturbated. ED was associated to lower level of education, but not to race, sexual orientation, employment or marital status. Also, no association was found between ED and smoking, alcoholism, obesity, sedentary life, diabetes, hypertension, cardiovascular disease, hyperlipidemia, depression or anxiety. ED caused negative impact in men`s self-esteem, interpersonal relationships, work and leisure activities, and in sexual life satisfaction. Less than 10% of men with ED had received medical treatment for this problem. Conclusions. Prevalence of ED in this young population was high, mostly of mild severity. Low education and psychosocial problems were associated to ED and, due probably to the sample subjects` young age, no association was found with organic problems. Measures in the fields of education and psychosocial difficulties prevention would have a positive impact in the control of erectile dysfunction in the young population. Martins FG, and Abdo CHN. Erectile dysfunction and correlated factors in Brazilian men aged 18-40 years. J Sex Med 2010;7:2166-2173.

Timing of Dose Relative to Sexual Intercourse Attempt in Previous Sildenafil Citrate Users Treated with Tadalafil: A Geographical Comparison from a Single Arm, Open-Label Study

Introduction. Previous research has demonstrated that sildenafil citrate users alter dosing-sexual attempt behavior when switched to tadalafil. The impact of geography and culture on sexual behavior with phosphodiesterase type 5 (PDE5) inhibitor treatment has not been fully investigated. Aim. To describe and compare the changes in dosing-sexual attempt behavior with sildenafil citrate vs. tadalafil treatment across four distinct geographies: Asia, Australia/New Zealand (ANZ), Central Eastern Europe/Middle East (CEE/ME), and Latin America (LA). Methods. Data from a single-arm, open-label clinical trial conducted in 21 countries from November 2002 to May 2004 were used in this analysis. Men with erectile dysfunction and a history of >= 6-week prior sildenafil citrate use continued sildenafil citrate treatment for 4 weeks then switched to tadalafil for 8 weeks. Dosing instructions were provided. Main Outcomes Measures. Timing of dose and sexual intercourse was assessed through patient diaries for the final 4 weeks of each treatment period. Results. A total of 2,760 men were enrolled: Asia 15.8%; ANZ 29.4%; CEE/ME 19.7%; LA 35.1%. The median time from dosing to intercourse was significantly increased during tadalafil treatment across all geographical regions; however, the magnitude of increase differed significantly by geography (P < 0.0001). The Asian cohort demonstrated the shortest duration between dosing and sexual intercourse attempts (irrespective of drug), and altered sexual behavior the least upon switching to tadalafil. The ANZ cohort demonstrated the longest duration between dosing and sexual intercourse attempts (irrespective of drug), and altered sexual behavior the most upon switching to tadalafil. Conclusion. Men with a history of established sildenafil citrate use alter their dose-attempt behavior when treated with tadalafil irrespective of geography. However, the extent to which sexual behavior alters is not uniform across geographical regions, suggesting that dosing instructions and duration of drug effectiveness, in combination with personal and cultural preferences, may determine sexual behavior with PDE5 inhibitor use. Rubio-Aurioles E, Glina S, Abdo CHN, Hernandez-Serrano R, Rampazzo C, Sotomayor M, West TM, Gallagher GL, and Lenero E. Timing of dose relative to sexual intercourse attempt in previous sildenafil citrate users treated with tadalafil: A geographical comparison from a single arm, open-label study. J Sex Med 2009;6:2836-2850.

Sexual satisfaction among patients with erectile dysfunction treated with counseling, sildenafil, or both

Introduction. Sexual satisfaction is linked to life satisfaction, and erectile dysfunction (ED) may lead to an impaired quality of life (QOL). Aim. Our goal was to evaluate the QOL among Brazilian patients with ED, before and after three kinds of treatment. Methods. Men aged 25-55 years, with a diagnosis of psychogenic or mixed ED, according to the Classification of Mental and Behavioral Disorders of the International Classification of Diseases, 10th edition, and the Standard Practice in Sexual Medicine, were randomly assigned to three treatment groups: counseling, sildenafil, and sildenafil plus counseling. At baseline each group had 40 patients. Sildenafil was provided in 50 mg that could be adjusted to 100 mg. The patients could initially take one to two tablets per week and the entire treatment lasted for 3 months. Counseling was provided in group sessions that took place once a week. They were evaluated at baseline and after 3 months of treatment with the Male Sexual Quotient (MSQ) and the Sexual Health Inventory for Men (SHIM). Main Outcome Measures. The correlation between the patients` MSQ score and scores on the SHIM. Results. One hundred seventeen patients were enrolled. The three groups were similar according to age, marital status, mean time of ED, and ED severity and etiology. At baseline, MSQ and SHIM total scores were not different among the three groups. MSQ scores increased from 41.2 +/- 15.3, 38.7 +/- 18.0, and 46.8 +/- 17.0 to 48.5 +/- 15.3, 63.8 +/- 21.6, and 70.0 +/- 17.3 after counseling, sildenafil, and sildenafil plus counseling, respectively (P < 0.05). SHIM scores also increased significantly (9.6 +/- 4.1, 9.7 +/- 4.1, and 10.2 +/- 3.9 to 12.1 +/- 3.9, 16.7 +/- 5.6, and 17.7 +/- 4.5 after counseling, sildenafil, and sildenafil plus counseling, respectively) (P < 0.05). There were no serious adverse events related to sildenafil, and no patient was withdrawn from the study because of an adverse event. Conclusions. The three treatments were significantly efficient, and the best treatment was sildenafil associated with counseling.

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome

WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms` tumor, genital abnormalities and development of early nephropathy. The most frequent WT1 defects in DDS are missense mutations located in exons 8-9. Our aim is to report a novel WT1 mutation in a 46,XY patient with a DDS variant, who presented a mild nephropathy with a late onset diagnosed during adolescence. He had ambiguous genitalia at birth. At 4 months of age he underwent nephrectomy (Wilms` tumor) followed by chemotherapy. Ambiguous genitalia were corrected and bilateral gonadectomy was performed. Sequencing of WT1 identified a novel heterozygous mutation (c.742A > T) in exon 4 that generates a premature stop codon (p.K248X). Interestingly, this patient has an unusual DDS nephropathy progression, which reinforces that patients carrying WT1 mutations should have the renal function carefully monitored due to the possibility of late-onset nephropathy.

Integrating toxicity testing in the wastewater management of chemical storage terminals - A proposal based on a ten-year study

Wastewater control at storage terminals of liquid chemical products in bulk is very difficult because of the variety of products handled in the facilities generating effluents of variable composition. The main objective of this work was to verify if the Vibrio fischeri acute toxicity test could be routinely included in the wastewater management of those facilities along with physical and chemical analysis in order to evaluate and improve the quality of the generated effluents. The study was performed in two phases before and after the implementation of better operational practices/treatment technologies. Chemical oxygen demand (COD) and toxicity of treated effluents did not correlate showing that effluents with low COD contain toxic substances and non-biodegradable organic matter, which may be not degraded when discharged into the aquatic environment. Segregation of influents or pre-treatment based on toxicity results and biodegradability index were implemented in the facilities generating significant improvements in the quality of final effluents with reduction of Biochemical oxygen demand (BOD) and toxicity. The integration of physical and chemical analysis with the V.fischeri toxicity test turned out to be an excellent tool for wastewater management in chemical terminals allowing rapid decision making for pollution control and prevention measures. Reuse of rain water was also proposed and when implemented by the facilities resulted in economical and environmental benefits. (C) 2010 Elsevier B.V. All rights reserved.

Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14

We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture. (C) 2010 Wiley-Liss, Inc.

Current Patient Management of Chronic Myeloid Leukemia in Latin America A Study by the Latin American Leukemia Net (LALNET)

BACKGROUND: Treatment recommendations have been developed for management of patients with chronic myeloid leukemia (CML). METHODS: A 30-item multiple-choice questionnaire was administered to 435 hematologists and oncohematologists in 16 Latin American countries. Physicians self-reported their diagnostic, therapeutic, and disease management strategies. RESULTS: Imatinib is available as initial therapy to 92% of physicians, and 42% of physicians have access to both second-generation tyrosine kinase inhibitors. Standard-dose imatinib is the preferred initial therapy for most patients, but 20% would manage a young patient initially with an allogeneic stem cell transplant from a sibling donor, and 10% would only offer hydroxyurea to an elderly patient. Seventy-two percent of responders perform routine cytogenetic analysis for monitoring patients on therapy, and 59% routinely use quantitative polymerase chain reaction. For patients who fail imatinib therapy, 61% would increase the dose of imatinib before considering change to a second-generation tyrosine kinase inhibitor, except for patients aged 60 years, for whom a switch to a second-generation tyrosine kinase inhibitor was the preferred choice. CONCLUSIONS: The answers to this survey provide insight into the management of patients with CML in Latin America. Some deviations from current recommendations were identified. Understanding the treatment patterns of patients with CML in broad population studies is important to identify needs and improve patient care. Cancer 2010;116:4991-5000. (C) 2070 American Cancer Society.

Paracoccidioides brasiliensis causing a rib lesion in an adult AIDS patient

Paracoccidioidomycosis is a systemic mycosis with a geographic distribution that is limited to Central and South America; Brazil has the highest number of cases. Severe disseminated disease caused by paracoccidioidomycosis was observed in acquired immunodeficiency syndrome patients who live or have resided in endemic paracoccidioidomycosis areas. Here we describe a male patient admitted to a large public hospital with diffuse nodular infiltrates observed in chest radiographs and with erosion at the second rib near the sternum. Blood tests showed anti human immunodeficiency virus antibodies, a human immunodeficiency virus viral load of 59 700 (4.8 log), and CD4 144/mm(3), with negative serology result for fungal infections. Aspirate of the rib lesion showed cells with a typical morphology of Paracoccidioides brasiliensis, aside from benign inflammatory cells. The histology of the rib biopsy showed typical granulomas and immunostained fungal cells. Although there was no growth in the Sabouraud cultures, Paracoccidioides brasiliensis gp43 and rDNA genes were detected in the aspirate by polymerase chain reaction. Therapy with amphotericin resulted in complete recovery. This type of bone lesion is rare and has been described primarily in the juvenile form of paracoccidioidomycosis; it must be included in the differential diagnosis of bone lesions in adult acquired immunodeficiency syndrome patients of endemic areas. (C) 2010 Elsevier Inc. All rights reserved.

Translation and Cross-Cultural Adaptation of the Brazilian Version of the International Knee Documentation Committee Subjective Knee Form Validity and Reproducibility

Background: The perception of improvement by a patient has assumed a central role in functional evaluation after a variety of knee problems. One of the instruments most used in clinical research is the International Knee Documentation Committee (IKDC) Subjective Knee Form because its psychometric properties are considered to be excellent. Nonetheless, this questionnaire was originally developed for use in the English language. Therefore, to use this questionnaire in the Brazilian population, it is essential to translate and validate it. Purpose: The aim of this study was to translate the IKDC Subjective Knee Form into a Brazilian version and to test its validity and reproducibility. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: The translation of the original IKDC Subjective Knee Form into a Brazilian version was accomplished in accordance with the American Orthopaedic Society for Sports Medicine guidelines and was tested in 32 patients with knee pathologic conditions to develop the first Brazilian version. To test validity and reproducibility, 117 patients with several knee complaints completed the Brazilian IKDC Subjective Knee Form, the Short Form 36 (SF-36), the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and the Lysholm score. From these patients, 85 were retested within a week to achieve reproducibility. The validation was addressed by correlating the Brazilian IKDC Subjective Knee Form to the other outcome measures. The reproducibility was tested by measuring internal consistency, test-retest reliability, and agreement. Results: The Brazilian IKDC Subjective Knee Form was highly related to the physical component summary of the SF-36, the Lysholm score, and the WOMAC, and weakly related to the mental component summary of SF-36 (r=.79, .89, .85, and .51, respectively). The internal consistency was strong, with a Cronbach a value of .928 and .935 in the test and retest assessment, respectively. The test-retest reliability proved to be excellent, with a high value of the intraclass correlation coefficient (.988), as well as the agreement, demonstrated by the low differences between the means of the test and retest, and the short limit of agreement, observed in the Altman-Bland and survival-agreement plots. Conclusion: The results of this study provide evidence that the Brazilian IKDC Subjective Knee Form has psychometric properties similar to the original version. In addition, it was a reliable evaluation instrument for patients with knee-related problems.