What is the Diagnosis?

Patient T.D., 23 years old, female, with corrected transposition of the great arteries, complete atrioventricular block with narrow QRS, submitted to bicameral pacemaker implantation at 13 years of age, with generator replacement three years ago. She has a good functional capacity, but complains of fatigue in the face of intense effort

What is the Diagnosis?

Patient T.D., 23 years old, female, with corrected transposition of the great arteries, complete atrioventricular block with narrow QRS, submitted to bicameral pacemaker implantation at 13 years of age, with generator replacement three years ago. She has a good functional capacity, but complains of fatigue in the face of intense effort

Qual o diagnóstico?

Paciente YB, 50 anos, sexo feminino, com hipotireoidismo, disfunção ventricular esquerda grave, ventrículo esquerdo não compactado e taquicardia ventricular mal tolerada, submetida a implante de cardioversor desfibriladores implantável (CDI) de dupla câmara em fevereiro de 2012 com sucesso (gerador Secura DR Medtronic, eletrodo atrial 4076 Medtronic e eletrodo ventricular Sprint Quattro 6947 Medtronic). Retorna assintomática nove meses após o implante para avaliação de rotina

Estimation and classification of popping expansion capacity in popcorn breeding programs using NIR spectroscopy

One of the most important quality traits in popcorn breeding programs is the popping expansion (PE) capacity of the kernel, which is the ratio of the volume of the popcorn to the weight of the kernel. In this study, we evaluated whether near infrared spectroscopy (NIR spectroscopy) could be used as a tool in popcorn breeding programs to routinely predict and/or discriminate popcorn genotypes on the basis of their PE. Three generations (F1, F2, and F2:3) were developed in three planting seasons by manual cross-pollination and self-pollination. A total of 376 ears from the F2:3 generation were selected, shelled, and subjected to phenotypic analysis. Genetic variability was observed in the F2 and F2:3 generations, and their average PE value was 31.5 ± 6.7 mL.g-1. PE prediction models using partial least square (PLS) regression were developed, and the root mean square error of calibration (RMSEC) was 6.08 mL.g-1, while the coefficient of determination (RC 2) was 0.26. The model developed by principal component analysis with quadratic discriminant analysis (PCA-QDA) was the best for discriminating the kernels with low PE (≤ 30 mL.g-1) from those with high PE (> 30 mL.g-1) with an accuracy of 78%, sensitivity of 81.2%, and specificity of 72.2%. Although NIR spectroscopy appears to be a promising non-destructive method for assessing the PE of intact popcorn kernels for narrow breeding populations, greater variability and larger sample sizes would help improve the robustness of the predictive and classificatory models

Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea

ABSTRACTPendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite diagnosis requires molecular analysis. Our study illustrates the value and challenges of mutational analysis in selected patients with PS. __________________________________________________________________________________ RESUMOA syndrome de Pendred (SP) é uma doença autossômica recessiva caracterizada por surdez neurossensorial, bócio e defeito de organificação do iodo. A perda auditiva está associada a anormalidades do ouvido interno, desde a dilatação isolada do aqueduto vestibular (DAV) até uma típica displasia coclear. Mutações no gene que codifica a pendrina (SLC26A4), um transportador de cloreto/iodeto, têm sido associadas à SP. Descrevemos as características clínicas e moleculares de uma grande família consangüínea portadora de uma mutação no gene SLC26A4. O caso-índice era uma paciente do sexo feminino, brasileira, 26 anos, portadora de surdez congênita, que apresentava um volumoso bócio multinodular e hipotireoidismo desde a puberdade. Outros cinco irmãos eram surdos: um irmão tinha fenotipo semelhante, três também tinham bócio, porém com função tiroideana normal e um irmão tinha apenas um discreto aumento da tiróide. Outros quatro irmãos não apresentavam alteração tiroideana ou auditiva. Os pais eram primos de primeiro grau e tinham audição normal. A mãe era saudável, exceto por hipotireoidismo subclínico; o pai era falecido. O teste do perclorato no caso-índice revelou a liberação de 21% do iodo incorporado duas horas após a administração de 1 g de KClO4. Os exames audiológicos mostraram perda auditiva profunda em todos os indivíduos afetados; TC e RMN dos ossos temporais mostraram DAV em todos eles. O DNA genômico foi isolado do sangue total dos seis irmãos afetados e dos quatro não-afetados, da mãe e do controle. A região codificante do gene PDS (éxons 2-21), incluindo as junções éxon/íntron, foram amplificadas por PCR e seqüenciadas. Foi detectada a deleção de uma base (T) na posição 1197 do éxon 10, em homozigoze, nos seis irmãos afetados. A mãe e dois irmãos não-afetados eram heterozigotos para a mutação, que foi descrita inicialmente por Everett e cols. A mutação 1197delT provavelmente resulta em um erro de fase de leitura (frameshift) e em uma proteína truncada. A existência de fenocópias da SP e a variabilidade fenotípica intrafamiliar são bem conhecidas. O diagnóstico definitivo requer análise molecular. O presente estudo ilustra o valor e os desafios da análise mutacional em pacientes selecionados com SP

Overactive bladder-18 years - Part II

Traditionally, the treatment of overactive bladder syndrome has been based on the use of oral medications with the purpose of reestablishing the detrusor stability. The recent better understanding of the urothelial physiology fostered conceptual changes, and the oral anticholinergics - pillars of the overactive bladder pharmacotherapy - started to be not only recognized for their properties of inhibiting the detrusor contractile activity, but also their action on the bladder afference, and therefore, on the reduction of the symptoms that constitute the syndrome. Beta-adrenergic agonists, which were recently added to the list of drugs for the treatment of overactive bladder, still wait for a definitive positioning - as either a second-line therapy or an adjuvant to oral anticholinergics. Conservative treatment failure, whether due to unsatisfactory results or the presence of adverse side effects, define it as refractory overactive bladder. In this context, the intravesical injection of botulinum toxin type A emerged as an effective option for the existing gap between the primary measures and more complex procedures such as bladder augmentation. Sacral neuromodulation, described three decades ago, had its indication reinforced in this overactive bladder era. Likewise, the electric stimulation of the tibial nerve is now a minimally invasive alternative to treat those with refractory overactive bladder. The results of the systematic literature review on the oral pharmacological treatment and the treatment of refractory overactive bladder gave rise to this second part of the review article Overactive Bladder - 18 years, prepared during the 1st Latin-American Consultation on Overactive Bladder.Univ Fed Sao Paulo, EPM, Sao Paulo, SP, BrazilUniv Sao Paulo, Dept Urol, BR-05508 Sao Paulo, SP, BrazilFac Med ABC, Dept Urol, Sao Paulo, SP, BrazilUniv Los Andes, Dept Urol, Bogota, ColombiaEscuela Med Mil, Dept Urol, Mexico City, DF, MexicoHosp Clin Jose San Martin, Catedra Urol, Buenos Aires, DF, ArgentinaMae de Deus Ctr Hosp, Dept Urol, Porto Alegre, RS, BrazilUniv Fed Ciencias Saude Porto Alegre, Porto Alegre, RS, BrazilAC Camargo Hosp, Dept Urol, Sao Paulo, SP, BrazilHosp Clinico Fuerza Area Chile, Santiago, ChileInst Mexicano Seguro Social, Mexico City, DF, MexicoHosp Souza Aguiar, Dept Urol, Rio De Janeiro, RJ, BrazilComplejo Med Policial Churruca Visca, Serv Urol, Buenos Aires, DF, ArgentinaCtr Policlin Valencia Vina, Valencia, VenezuelaHosp Pablo Tobon Uribe, Medellin, ColombiaClin Indisa, Serv Urol, Providencia, ChileCtr Reabilitacao & Readaptacao Dr Henriqe Santill, Goiania, Go, BrazilHosp Univ Caracas, Serv Urol, Caracas, VenezuelaUniv Fed Ceara, Div Urol, Fortaleza, Ceara, BrazilUniv Fed Sao Paulo, EPM, Sao Paulo, SP, BrazilWeb of Scienc

Overactive bladder-18 years - Part I

Overactive bladder syndrome is one of the lower urinary tract dysfunctions with the highest number of scientific publications over the past two decades. This shows the growing interest in better understanding this syndrome, which gathers symptoms of urinary urgency and increased daytime and nighttime voiding frequency, with or without urinary incontinence and results in a negative impact on the quality of life of approximately one out of six individuals - including both genders and almost all age groups. The possibility of establishing the diagnosis just from clinical data made patients' access to specialized care easier. Physiotherapy resources have been incorporated into the urological daily practice. A number of more selective antimuscarinic drugs with consequent lower adverse event rates were released. Recently, a new class of oral drugs, beta-adrenergic agonists has become part of the armamentarium for Overactive Bladder. Botulinum toxin injections in the bladder and sacral neuromodulation are routine modalities of treatment for refractory cases. During the 1st Latin-American Consultation on Overactive Bladder, a comprehensive review of the literature related to the evolution of the concept, epidemiology, diagnosis, and management was conducted. This text corresponds to the first part of the review Overactive Bladder 18-years.Univ Fed Sao Paulo, EPM, Rua Dr Oscar Monteiro Barros 617-141, BR-05641010 Sao Paulo, SP, BrazilUniv Sao Paulo, Dept Urol, BR-05508 Sao Paulo, SP, BrazilFac Med ABC, Dept Urol, Sao Paulo, SP, BrazilUniv Los Andes, Dept Urol, Bogota, ColombiaEscuela Med, Dept Urol, Mexico City, DF, MexicoHosp Clin Jose San Martin, Catedra Urol, Buenos Aires, DF, ArgentinaMae de Deus Ctr Hosp, Dept Urol, Porto Alegre, RS, BrazilUniv Fed Ciencias Saude Porto Alegre, Porto Alegre, RS, BrazilAC Camargo Hosp, Dept Urol, Sao Paulo, BrazilHosp Clin Fuerza Area Chile, Santiago, ChileInst Mexicano Seguro Social, Mexico City, DF, MexicoHosp Souza Aguiar, Dept Urol, Rio De Janeiro, RJ, BrazilComplejo Med Policial Churruca Visca, Serv Urol, Buenos Aires, DF, ArgentinaCtr Policlin Valencia Vina, Valencia, VenezuelaHosp Pablo Tobon Uribe, Medellin, ColombiaClin Indisa, Serv Urol, Providencia, ChileCtr Reabilitacao & Readaptacao Dr Henriqe Santill, Goiania, Go, BrazilHosp Univ Caracas, Serv Urol, Caracas, VenezuelaUniv Fed Ceara, Div Urol, Fortaleza, Ceara, BrazilUniv Fed Sao Paulo, EPM, Rua Dr Oscar Monteiro Barros 617-141, BR-05641010 Sao Paulo, SP, BrazilWeb of Scienc

A list of land plants of Parque Nacional do Caparaó, Brazil, highlights the presence of sampling gaps within this protected area

Brazilian protected areas are essential for plant conservation in the Atlantic Forest domain, one of the 36 global biodiversity hotspots. A major challenge for improving conservation actions is to know the plant richness, protected by these areas. Online databases offer an accessible way to build plant species lists and to provide relevant information about biodiversity. A list of land plants of “Parque Nacional do Caparaó” (PNC) was previously built using online databases and published on the website "Catálogo de Plantas das Unidades de Conservação do Brasil." Here, we provide and discuss additional information about plant species richness, endemism and conservation in the PNC that could not be included in the List. We documented 1,791 species of land plants as occurring in PNC, of which 63 are cited as threatened (CR, EN or VU) by the Brazilian National Red List, seven as data deficient (DD) and five as priorities for conservation. Fifity-one species were possible new ocurrences for ES and MG states