RESUMO
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can be given. The aim of the present review was to offer a guide for physicians in understanding the fundamental diagnostic aspects of LAL-D, to successfully aid in its identification. METHODS: The review was designed by a group of Mexican experts and is presented as an orienting algorithm for the pediatrician, internist, gastroenterologist, endocrinologist, geneticist, pathologist, radiologist, and other specialists that could come across this disease in their patients. An up-to-date review of the literature in relation to the clinical manifestations of LAL-D and its diagnosis was performed. The statements were formulated based on said review and were then voted upon. The structured quantitative method employed for reaching consensus was the nominal group technique. RESULTS: A practical algorithm of the diagnostic process in LAL-D patients was proposed, based on clinical and laboratory data indicative of the disease and in accordance with the consensus established for each recommendation. CONCLUSION: The algorithm provides a sequence of clinical actions from different studies for optimizing the diagnostic process of patients suspected of having LAL-D.
Assuntos
Doença de Wolman/diagnóstico , Algoritmos , Diagnóstico Diferencial , Humanos , México , Doença de Wolman/patologia , Doença de Wolman/fisiopatologia , Doença de WolmanRESUMO
BACKGROUND: The early diagnosis and therapy of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can prevent adrenal crises and erroneous gender assignment in affected newborns. To achieve this goal neonatal mass-screening programs have been developed, measuring blood 17 alpha-hydroxyprogesterone (17OHP). In Chile there is no experience with this type of screening. AIM: To develop a method for measuring 17OHP in filter paper blood specimens. To obtain reference ranges and determine neonatal 17OHP threshold levels according to gestational age and birth weight. To analyze factors affecting the cost-efficiency ratio and suggest recommendations for the organization of a neonatal screening program for CAH in Chile. MATERIAL AND METHODS: Nine hundred twenty two newborns were studied. 17OHP was measured using double antibody radioimmunoassay in filter paper blood samples obtained 48 h after birth. Reference ranges were determined according to gestational age and birth weight and a cutoff point of 25 ng/ml was established. RESULTS: Seventeen newborns had 17OHP over the cutoff value. They were assessed by a pediatric endocrinologist and in none of them, CAH was confirmed. Therefore the false positive rate of the determination was 1.8%. Among these newborns with elevated 17OHP, 66% had a birth weight below 1.5 kg and 5.8%, a birth weight between 1.5 and 2.5 kg. The cost per reported result was US $ 1. Timing of the recall was between the 3 and 10 days of life. No newborn missed the follow-up. DISCUSSION: To increase the cost-efficiency ratio of an eventual neonatal screening program, newborns with birth weights below 1.5 kg should be excluded and cutoff points should be defined according to birth weight (Rev Méd Chile 2000; 128: 1113-18).
Assuntos
17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/prevenção & controle , Biomarcadores/sangue , Peso ao Nascer , Chile , Análise Custo-Benefício , Idade Gestacional , Humanos , Recém-Nascido , Programas de Rastreamento/economia , Programas de Rastreamento/métodos , Radioimunoensaio , Valores de ReferênciaRESUMO
This study was designed to explore the relationship of sunlight exposure and ultraviolet (UV) light protection measures with clinical outcome in systemic lupus erythematosus (SLE). A structured questionnaire was administered to sixty Puerto Rican SLE patients, to assess their attitudes and behavior regarding sunlight exposure and photoprotection measures. Medical records were reviewed to evaluate the clinical outcome measures that included: clinical manifestations, number of SLE-related hospitalizations, number of exacerbations and pharmacologic treatment. Almost all (98.3%) patients were well acquainted of sunlight effects on disease activity. Two thirds were exposed to direct sunlight for an average of less than one hour per day and 33.3% for one hour or more. Thirty patients (50%) reported use of sunscreen, with sun protective factor of 15 or greater, when exposed to sunlight. Less than 40% of patients regularly wore hat or long-sleeves clothes to protect from sunlight. Although there were some clinical differences between the groups with different sunlight exposure times, none reached statistical significance. Also, no significant differences were found between the groups in regards to sunlight protective clothes. However, patients that regularly used sunscreen had significantly lower renal involvement (13.3 vs 43.3%), thrombocytopenia (13.3 vs 40%), hospitalizations (26.7 vs. 76.7%), and requirement of cyclophosphamide treatment (6.7 vs. 30%) than patients that did not used it (P < 0.05). We conclude that use of sunscreen photoprotection was associated with a better clinical outcome in our SLE patients. These findings further support the importance and benefits of photoprotective measures in patients with SLE.
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Lúpus Eritematoso Sistêmico/complicações , Transtornos de Fotossensibilidade/prevenção & controle , Luz Solar/efeitos adversos , Protetores Solares/administração & dosagem , Adulto , Vestuário , Interpretação Estatística de Dados , Feminino , Humanos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Razão de Chances , Análise de Regressão , Inquéritos e Questionários , Resultado do Tratamento , Raios Ultravioleta/efeitos adversosRESUMO
Tumor necrosis factor (TNF-alpha) is a cytokine which can be found in peritoneal fluid (PF) of patients with endometriosis and pelvic inflammatory disease (PID) as a response of inflammatory disorder and infections diseases. The cytotoxic effect of this cytokine could be participating in the pathology of different gynecologic problem and be accountable of the high immunological response and damage on the tubal epithelium. The objective of this study was determinate the presence of TNF-alpha in PF of endometriosis patients, fallopian tube occlusion (FTO) and PID and their correlation with different isolated bacteria. Ten mililiter PF were collected and cultured in antificial medium and Mc Coy culture cells for isolation of acrobic, and anaerobic bacteria and Chlamydia trachomatis from 73 patients by laparoscopy. The TNF-alpha activity was determined by L-929 cells endometriosis, 30 PID and 4 had miomas and adherences. The 50.7% of patients were cultive positive, fom these, 31.5% were PID. Chlamydia trachomatis (16%) was the most frecuenty isolated bacteria in these patients. 59.4% of FTO patients displayed TNF-alpha activity. However, only 4% showed positive isolation, in conclusion the detection of TNF-alpha could be useful in active infectious and inflammatory diseases in patients which not present simptomatologic characteristic of these illnesses and plus being attended at for sterility clinical as a result of their incapacity to get pregnant.
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Líquido Ascítico/microbiologia , Endometriose/patologia , Infertilidade Feminina/etiologia , Doença Inflamatória Pélvica/patologia , Fator de Necrose Tumoral alfa/análise , Líquido Ascítico/química , Citotoxicidade Imunológica , Endometriose/microbiologia , Feminino , Humanos , Laparoscopia , Doença Inflamatória Pélvica/microbiologia , GravidezRESUMO
In 200 studied patients there was a sensitivity of 49% and specificity of 100%; bacterial vaginosis incidence was 17.7%; the probability of false negatives was 73%. So, Papanicolaou's smear is not an adequate method for bacterial vaginosis diagnosis, but the negative result, excludes the possibility of disease.
Assuntos
Teste de Papanicolaou , Complicações na Gravidez/diagnóstico , Esfregaço Vaginal , Vaginose Bacteriana/diagnóstico , Adolescente , Reações Falso-Positivas , Feminino , Humanos , Incidência , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Doenças Bacterianas Sexualmente Transmissíveis/diagnósticoRESUMO
To start an active sexual activity at an earlier age and with a larger number of partners, has arousen the frequency of sexually transmitted diseases (STS). The teenagers are a group particularly affected. The objective of this article is to report the etiology of STD in a group of teenagers, out-patients at the Instituto Nacional de Perinatologia (INPer). The study includes 1360 patients at the clinic of STD at the INPer, 8.5 percent were less than 20 years old; 18.9 percent of them had previously a STD. The most frequent pathology was cervicovaginitis and the most frequently isolated pathogens were Candida sp, Gardnerella vaginalis and Ureaplasma urealyticum. There were no cases of gonorrhea. Three patients had Immunodeficiency Syndrome.
Assuntos
Complicações Infecciosas na Gravidez/epidemiologia , Infecções Sexualmente Transmissíveis/epidemiologia , Adolescente , Adulto , Centros Comunitários de Saúde , Feminino , Humanos , Masculino , Gravidez , Cuidado Pré-NatalRESUMO
A prospective study to evaluate the prevalence of specific microorganisms in pregnant and nonpregnant women with cervicovaginitis attended at the Instituto Nacional de Perinatología, was done; Candida sp, Gardnerella vaginalis, Replasma urealitycum, Chlamydia trachomatis, Group B Streptococcus, Trichomonas vaginalis, Neisseria gonorrhoeae were investigated. Two hundred thirty four patients were studied, 105/234 (44.9%) pregnant and 129/234 (55.1%) nonpregnant women, with a mean age of 26.5 years (range 14 to 44 years). One hundred eighty one (77.5%) women had only one sexual partner. The most common microorganisms seen were Candida sp (31.6%), Gardnerella vaginalis (27.7) and Ureaplasma urealyticum (15.8%). Infection by Chlamydia trachomatis was documented in 9.8% of the population. Trichomonas vaginalis was identified in 1.7%, there was not any case of Neisseria gonorrhoeae infection. Candida sp and Ureaplasma urealyticum were founded more frequent in the pregnant women than nonpregnant women, 41.9% vs. 24.8% (p less than 0.01) and 20% vs. 12.4% (p less than 0.05) respectively. Group B Streptococci was isolated as a single agent in 4.8% in pregnant women. There were not found any pathogenic microorganisms in 29.9% of the cases, as a causal agent of symptomatic cervicovaginitis.