Doença de Tay-Sachs: relato de caso / Tay-Sachs disease: a case report

RESUMO A doença de Tay-Sachs é um distúrbio neurodegenerativo autossômico recessivo, o qual envolve o metabolismo dos lipídios, levando ao acúmulo de gangliosídeos nos tecidos, devido à deficiência da enzima hexosaminidase A. Esse depósito progressivo resulta em perda da função neurológica e, quando acomete as células ganglionares da mácula, causa o achado típico da doença, a "mácula em cereja". A patologia é diagnosticada por meio dos níveis de hexosaminidase A e hexosaminidase total no soro, além análise do DNA do gene HEXA. Este caso relata uma criança com doença de Tay-Sachs cujo diagnóstico foi suspeitado por conta dos achados oftalmológicos.

ABSTRACT Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder, which involves the metabolism of lipids, leading to the accumulation of gangliosides in the tissues, due to the deficiency of the enzyme Hexosaminidase A. This progressive deposit results in loss of neurological function and, when it affects macula ganglion cells, it causes the typical disease finding, the "cherry red spot". The pathology is diagnosed through the levels of Hex A and total Hexosaminidase in the serum, in addition to the analysis of the DNA of the HEXA gene. This case reports a child with Tay-Sachs disease with a suspected diagnosis was through ophthalmologic findings.

Dermatoses in parkinsonism: the importance of multidisciplinary follow-up.

Parkinsonism is characterized by bradykinesia with rigidity and/or resting tremor, in addition to non-motor symptoms, which include dermatological manifestations. The objective of this study is to evaluate the main dermatoses in patients with parkinsonism found at the Philanthropic Association of Curitiba - PR. A cross-sectional descriptive study was carried out with the application of a questionnaire and dermatological evaluation of the patients. The sample consisted of 386 patients and was composed mainly by men (55.4%), between 60-74 years old (51.6%), with complete primary education (45.3%), disease diagnosis time between 5-10 years (35%) and in use of medication (96.6%). The most prevalent dermatoses were pigmented nevus (36.3%), warts (25.1%), actinic keratosis (22%), seborrheic keratosis (21.5%), seborrheic dermatitis (20.5%), and rosacea (19.2%). Among the 13 cases (3.4%) of malignant cutaneous neoplasms confirmed by biopsy, 2 were melanomas. Regarding patients' sex, there was a higher prevalence of inflammatory dermatoses (OR 1.64, 95% CI 1.08-2.51, p = 0.025) and benign cutaneous neoplasms (OR 1.77, 95% CI 1.16-2.69, p = 0.01) in men. As to age, patients aged between 60-74 years had more pre-malignant skin lesions (OR 2.60, 95% CI 1.05-6.44, p <0.001) and seborrheic keratosis (OR 2.52, 95% CI 1.02-6.25, p = 0.001) and, in those older than 75 years, actinic keratosis was more frequent (OR 5.43, 95% CI 2.17-13.6, p <0.001). The results of the study show that it is fundamental to dermatologically evaluate and monitor these patients, aiming at diagnosis and early treatment of lesions, especially of skin cancer.

Dermatoses in parkinsonism: the importance of multidisciplinary follow-up

Summary Parkinsonism is characterized by bradykinesia with rigidity and/or resting tremor, in addition to non-motor symptoms, which include dermatological manifestations. The objective of this study is to evaluate the main dermatoses in patients with parkinsonism found at the Philanthropic Association of Curitiba - PR. A cross-sectional descriptive study was carried out with the application of a questionnaire and dermatological evaluation of the patients. The sample consisted of 386 patients and was composed mainly by men (55.4%), between 60-74 years old (51.6%), with complete primary education (45.3%), disease diagnosis time between 5-10 years (35%) and in use of medication (96.6%). The most prevalent dermatoses were pigmented nevus (36.3%), warts (25.1%), actinic keratosis (22%), seborrheic keratosis (21.5%), seborrheic dermatitis (20.5%), and rosacea (19.2%). Among the 13 cases (3.4%) of malignant cutaneous neoplasms confirmed by biopsy, 2 were melanomas. Regarding patients' sex, there was a higher prevalence of inflammatory dermatoses (OR 1.64, 95% CI 1.08-2.51, p = 0.025) and benign cutaneous neoplasms (OR 1.77, 95% CI 1.16-2.69, p = 0.01) in men. As to age, patients aged between 60-74 years had more pre-malignant skin lesions (OR 2.60, 95% CI 1.05-6.44, p <0.001) and seborrheic keratosis (OR 2.52, 95% CI 1.02-6.25, p = 0.001) and, in those older than 75 years, actinic keratosis was more frequent (OR 5.43, 95% CI 2.17-13.6, p <0.001). The results of the study show that it is fundamental to dermatologically evaluate and monitor these patients, aiming at diagnosis and early treatment of lesions, especially of skin cancer.

RESUMO Parkinsonismo é caracterizado por bradicinesia e/ou tremor de repouso, além de sintomas não motores, entre os quais se destacam as manifestações dermatológicas. O objetivo desse trabalho é conhecer as principais dermatoses em pacientes portadores de parkinsonismo atendidos em uma associação filantrópica de Curitiba/PR. Foi realizado um estudo descritivo transversal com aplicação de questionário e avaliação dermatológica dos pacientes. A amostra estudada consistiu de 386 pacientes e foi composta principalmente por homens brancos (55,4%), entre 60-74 anos (51,6%), ensino fundamental completo (45,3%), tempo de diagnóstico da doença entre 5-10 anos (35%) e em uso de medicação (96,6%). As dermatoses mais encontradas na inspeção dermatológica foram manchas pigmentadas (36,3%), verrugas (25,1%), ceratose actínica (22%), ceratose seborreica (21,5%), dermatite seborreica (20,5%) e rosácea (19,2%). Entre os 11 casos (2,8%) de neoplasias cutâneas malignas confirmados por biópsia, dois eram melanomas. Em relação ao sexo, houve prevalência em homens de dermatoses inflamatórias (OR 1,64, IC 95% 1,08-2,51; p=0,025) e neoplasias cutâneas benignas (OR 1,77, IC 95% 1,16-2,69; p=0,01). Quanto à idade, pacientes entre 60-74 anos apresentaram mais lesões cutâneas pré-malignas (OR 2,60, IC 95% 1,05-6,44; p<0,001) e a ceratose seborreica (OR 2,52, IC 95% 1,02-6,25; p=0,001); naqueles acima de 75 anos foi mais frequente a ceratose actínica (OR 5,43, IC 95% 2,17-13,6; p<0,001). Os resultados encontrados no estudo evidenciam que são fundamentais a avaliação e o monitoramento dermatológico desses pacientes, visando diagnóstico e tratamento precoce das lesões, em especial do câncer de pele.

Association of lipophilic opioids and hyperbaric bupivacaine in spinal anesthesia for elective cesarean section. Randomized controlled study.

PURPOSE: To evaluate the efficacy and side-effects of fentanyl and sufentanil combined with hyperbaric spinal bupivacaine in elective cesarean section. METHODS: A prospective, randomized, double-blind study with 64 term parturients, distributed into 2 groups according to the opioid combined with hyperbaric bupivacaine 0.5% (10mg): GF - fentanyl (25 µg) and GS - sufentanil (5.0 µg). The latency and maximum sensory block level; degree and duration of motor block; duration and quality of analgesia; maternal-fetal repercussions were evaluated. This was an intention-to-treat analysis with a 5% significance level. RESULTS: The latency period, maximum sensory block level, motor block degree and perioperative analgesia were similar in both groups. Motor block and analgesia had a longer duration in the sufentanil group. Maternal adverse effects and neonatal repercussions were similar. The incidence of hypotension was higher in the fentanyl group. In both groups, there was a predominance of patients who were awake and either calm or sleepy. CONCLUSIONS: The addition of fentanyl and sufentanil to hyperbaric subarachnoid bupivacaine was shown to be effective for the performance of cesarean section, and safe for the mother and fetus. Analgesia was more prolonged with sufentanil.

Association of lipophilic opioids and hyperbaric bupivacaine in spinal anesthesia for elective cesarean section. Randomized controlled study

PURPOSE: To evaluate the efficacy and side-effects of fentanyl and sufentanil combined with hyperbaric spinal bupivacaine in elective cesarean section. METHODS: A prospective, randomized, double-blind study with 64 term parturients, distributed into 2 groups according to the opioid combined with hyperbaric bupivacaine 0.5% (10mg): GF - fentanyl (25µg) and GS - sufentanil (5.0µg). The latency and maximum sensory block level; degree and duration of motor block; duration and quality of analgesia; maternal-fetal repercussions were evaluated. This was an intention-to-treat analysis with a 5% significance level. RESULTS: The latency period, maximum sensory block level, motor block degree and perioperative analgesia were similar in both groups. Motor block and analgesia had a longer duration in the sufentanil group. Maternal adverse effects and neonatal repercussions were similar. The incidence of hypotension was higher in the fentanyl group. In both groups, there was a predominance of patients who were awake and either calm or sleepy. CONCLUSIONS: The addition of fentanyl and sufentanil to hyperbaric subarachnoid bupivacaine was shown to be effective for the performance of cesarean section, and safe for the mother and fetus. Analgesia was more prolonged with sufentanil. .

Obstructive sleep apnea, detected by the Berlin Questionnaire: an associated risk factor for coronary artery disease.

Obstructive sleep apnea (OSA), a risk factor for coronary artery disease, remains under diagnosed. We investigated if OSA identified by the Berlin Questionnaire (BQ) is associated with the risk of coronary artery disease. Cases were patients referred for elective coronariography. The cases were classified with significant coronary lesions (stenosis ≥ 50% in an epicardial coronary) or without significant coronary lesions. Controls were selected from a population-based sample. Positive BQ results were identified in 135 (41.2%) of 328 cases, in contrast with 151 (34.4%) of 439 control subjects (p = 0.03). In a multinomial logistic analysis, the risk for OSA identified by the BQ was independently associated with coronary artery disease in cases with lesions of at least 50% (OR = 1.53; 95%CI: 1.02-2.30; p = 0.04). The risk from OSA identified by the BQ was higher in younger subjects (40-59 years) (OR = 1.76; 95%CI: 1.05-2.97; p = 0.03) and in women (OR = 3.56; 95%CI: 1.64-7.72; p = 0.001). In conclusion, OSA identified by the BQ greatly increases the risks of coronary artery disease in patients having significant coronary artery lesions indicated by anangiogram, particularly in younger individuals and in women.

Obstructive sleep apnea, detected by the Berlin Questionnaire: an associated risk factor for coronary artery disease / Risco de apneia obstrutiva do sono detectado pelo Questionário de Berlim está associado com doença arterial coronariana

Obstructive sleep apnea (OSA), a risk factor for coronary artery disease, remains under diagnosed. We investigated if OSA identified by the Berlin Questionnaire (BQ) is associated with the risk of coronary artery disease. Cases were patients referred for elective coronariography. The cases were classified with significant coronary lesions (stenosis > 50% in an epicardial coronary) or without significant coronary lesions. Controls were selected from a population-based sample. Positive BQ results were identified in 135 (41.2%) of 328 cases, in contrast with 151 (34.4%) of 439 control subjects (p = 0.03). In a multinomial logistic analysis, the risk for OSA identified by the BQ was independently associated with coronary artery disease in cases with lesions of at least 50% (OR = 1.53; 95%CI: 1.02-2.30; p = 0.04). The risk from OSA identified by the BQ was higher in younger subjects (40-59 years) (OR = 1.76; 95%CI: 1.05-2.97; p = 0.03) and in women (OR = 3.56; 95%CI: 1.64-7.72; p = 0.001). In conclusion, OSA identified by the BQ greatly increases the risks of coronary artery disease in patients having significant coronary artery lesions indicated by anangiogram, particularly in younger individuals and in women.

Síndrome da apneia obstrutiva do sono (SAOS), fator de risco para doença arterial coronariana, permanece subdiagnosticada. Investigou-se se o risco de SAOS pelo Questionário de Berlim (QB) associa-se com doença arterial coronariana. Casos foram pacientes encaminhados para coronariografia eletiva, classificados em casos com lesão significativa (estenose > 50%) ou sem lesões significativas. Controles foram selecionados em amostra populacional. QB foi positivo em 135 (41,2%) de 328 casos, em contraste com 151 (34,4%) de 439 controles (p = 0,03). Em análise logística multinomial, o risco de SAOS identificado pelo QB associou-se com doença arterial coronariana exclusivamente nos casos com lesões de pelo menos 50% (OR: 1,53; IC95%: 1,02-2,30; p = 0,04). Em indivíduos com lesões significativas, o risco de SAOS pela QB foi maior entre os que têm 40-59 anos (OR: 1,76; IC95%: 1,05-2,97; p = 0,03) e em mulheres (OR: 3,56; IC95%: 1,64-7,72; p = 0,001). Em conclusão, alto risco para a SAOS identificados pela QB associa-se a risco de lesões coronarianas significativas na angiografia, particularmente em indivíduos mais jovens e em mulheres.