The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of CryptoJews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.
Perfusion-weighted imaging is a feasible method of reducing the sampling error in the histopathological diagnosis of a presumed LGG, particularly by improving the selection of targets for stereotactic biopsy.
a b s t r a c tCONTEXT: Paranasal sinus cancer is considered rare, with an incidence of less than 1 per 100,000 per year, with the frontal sinus being the primary site in only 0.3%. We report a case of adenocarcinoma arising in the frontal sinus.
CASE REPORT:A 59-year-old woman, secretary, came in February 1998 with a 4-month history of low intensity frontal headache. She denied contact with wood dust. On examination a non-tender swelling was noted over her right forehead next to the medial aspect of the right orbit. CT scan showed a soft-tissue mass involving frontal sinus with intracranial invasion through the posterior wall. The anterior ethmoid sinus and the medial aspect of the right orbit were also involved. MRI demonstrated dural thickening in communication with the frontal mass. She underwent an en-bloc tumor resection by craniotomy including orbital clearance. Histology revealed an adenocarcinoma. After surgery she had tumor recurrence, and chemotherapy and radiotherapy were started resulting in partial improvement.
-We present a rare case of cavernous angioma of the cauda equina and review the eleven cases available in the literature. A 44-year-old woman presented with low back pain and sciatica associated with bowel and bladder dysfunction and motor weakness of the lower extremity. The MRI revealed an enhancing, heterogeneous and hyperintense intradural lesion compressing the cauda equina roots at the L4 level. Laminectomy at L3-L4 and total removal of the tumor were performed without additional neurological deficit. Pathology revealed a cavernous angioma.The literature, clinical presentation, technical examinations, and treatment are reviewed.KEY WORDS: cavernous angioma, cauda equina, cavernoma.
Angioma cavernoso de cauda equina: relato de casoRESUMO -Relatamos um caso de angioma cavernoso de cauda equina em mulher de 44 anos de idade com sintomas de lombociatalgia associada a fraqueza de membros inferiores e disfunção esfincteriana vesical e anal. Exame de ressonância magnética evidenciou lesão expansiva intradural heterogênea e hiperintensa na cauda eqüina. Indicado tratamento cirúrgico com remoção completa através de laminectomia L3 e L4. O exame anatomopatológico foi compatível com angioma cavernoso. Os onze casos encontrados na literatura são revisados correlacionando a apresentação clínica, tratamento proposto e prognóstico.PALAVRAS-CHAVE: angioma cavernoso, cauda eqüina, cavernoma.
SummaryObjectiveTo develop and cross‐validate predictive models for percentage body fat (%BF) from anthropometric measurements [including BMI z‐score (zBMI) and calf circumference (CC)] excluding skinfold thickness.MethodsA descriptive study was carried out in 3,084 pre‐pubertal children. Regression models and neural network were developed with %BF measured by Bioelectrical Impedance Analysis (BIA) as the dependent variables and age, sex and anthropometric measurements as independent predictors.ResultsAll %BF grade predictive models presented a good global accuracy (≥91.3%) for obesity discrimination. Both overfat/obese and obese prediction models presented respectively good sensitivity (78.6% and 71.0%), specificity (98.0% and 99.2%) and reliability for positive or negative test results (≥82% and ≥96%). For boys, the order of parameters, by relative weight in the predictive model, was zBMI, height, waist‐circumference‐to‐height‐ratio (WHtR) squared variable (_Q), age, weight, CC_Q and hip circumference (HC)_Q (adjusted r
2 = 0.847 and RMSE = 2.852); for girls it was zBMI, WHtR_Q, height, age, HC_Q and CC_Q (adjusted r
2 = 0.872 and RMSE = 2.171).Conclusion%BF can be graded and predicted with relative accuracy from anthropometric measurements excluding skinfold thickness. Fitness and cross‐validation results showed that our multivariable regression model performed better in this population than did some previously published models.
-Long-term complications in levodopa treated Parkinson's disease (PD) patients caused a resurgence of interest in pallidotomy as an option of treatment. However, postoperative complications such as speech disorders can occur. Purpose: The aim of this study is to evaluate the acoustic voice in PD patients, before and after posteroventral pallidotomy. Method: Twelve patients with PD were submitted to neurological and voice assessments during the off and on phases, in the pre-operative, 1 st and 3 rd postoperative months. The patients were evaluated with the UPDRS and the vocal acoustic parameters -f0, NHR, jitter, PPQ, Shimmer, APQ (using the software MultiSpeech -Kay Elemetrics -3700). Results: The off phase UPDRS scores revealed a tendency to improvement at the 1 st month and the off phase worsened. The shimmer and APQ improved. Conclusion: This study shows that pallidotomy has little improvement on functional use of communication of PD patients.KEY WORDS: Parkinson's disease, pallidotomy, voice.
Parametros acústicos da voz em pacientes com doença de Parkinson submetidos a palidotomia posteroventralRESUMO -O uso prolongado da levodopa na doença de Parkinson (DP) pode ocasionar alterações em seu rendimento e possibilitou o interesse no ressurgimento da palidotomia. Contudo, complicações pós-operatórias podem ocorrer. Objetivo: O presente estudo tem por objetivo avaliar alguns parâmetros acústicos da voz de pacientes com DP pré e pós a realização da palidotomia posteroventral Metodo: foram avaliados 12 pacientes com PD submetidos a avaliação neurológica e da voz durante as fases off e on do uso da levodopa, nos momentos pré-operatório, no primeiro e no terceiro mês pós-operatório. Os pacientes foram avaliados com base na escala UPDRS -item motor -e por meio dos parâmetros acústicos da voz -f0, NHR, jitter, PPQ, Shimmer, APQ (usando o software MDVP -Kay Elemetrics -3700). Resultados: Na fase off o escore UPDRS revelou tendência de melhora no 1 o pós-operatório e na fase on piora. Os parâmetros acústicos shimmer e APQ apresentaram melhora. Conclusão: Este estudo mostrou que a palidotomia resulta em discreta melhora no uso funcional da comunicação dos pacientes com DP. PALAVRAS-CHAVE: doença de Parkinson, palidotomia, voz.
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