Assuntos
Dieta , Iodo/deficiência , Doenças da Glândula Tireoide/prevenção & controle , Criança , Haiti , Humanos , Lactente , Saúde PúblicaRESUMO
Context: Iodine deficiency is the leading cause of preventable neurodevelopmental delay in children worldwide and a possible public health concern in Haiti. Objective: To determine the prevalence of iodine deficiency in Haitian young children and its influence by environmental factors. Design: Cross-sectional study, March through June 2015. Setting: Community churches in 3 geographical regions in Haiti. Participants: 299 healthy Haitian children aged 9 months to 6 years; one-third each enrolled in a coastal, mountainous, and urban region. Main Outcome Measures: Urinary iodide, serum thyrotropin (TSH), goiter assessment, and urinary perchlorate and thiocyanate. Results: Mean age was 3.3±1.6 years, with 51% female, median family income USD 30/week, and 16% malnutrition. Median urinary iodide levels were normal in coastal (145 µg/L, interquartile range [IQR] 97 to 241) and urban regions (187 µg/L, IQR 92 to 316), but revealed mild iodine deficiency in a mountainous region (89 µg/L, IQR 56 to 129), P < 0.0001. Grade 1 goiters were palpated in 2 children, but TSH values were normal. Urinary thiocyanate and perchlorate concentrations were not elevated. Predictors of higher urinary iodide included higher urinary thiocyanate and perchlorate, breastfeeding, and not living in a mountainous region. Conclusions: Areas of mild iodine deficiency persist in Haiti's mountainous regions. Exposure to two well-understood environmental thyroid function disruptors is limited.
Assuntos
Deficiências Nutricionais/epidemiologia , Disruptores Endócrinos/urina , Poluentes Ambientais/urina , Iodo/urina , Percloratos/urina , Tiocianatos/urina , Tireotropina/sangue , Criança , Pré-Escolar , Estudos Transversais , Deficiências Nutricionais/sangue , Deficiências Nutricionais/urina , Feminino , Bócio/diagnóstico , Bócio/epidemiologia , Haiti/epidemiologia , Humanos , Lactente , Iodo/deficiência , MasculinoRESUMO
We report the cases of 3 infants with congenital hypothyroidism detected with the use of our newborn screening program, with evidence supporting excess maternal iodine ingestion (12.5 mg/d) as the etiology. Levels of whole blood iodine extracted from their newborn screening specimens were 10 times above mean control levels. Excess iodine ingestion from nutritional supplements is often unrecognized.
Assuntos
Hipotireoidismo Congênito/etiologia , Suplementos Nutricionais/efeitos adversos , Doenças em Gêmeos/etiologia , Iodo/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/etiologia , Hipotireoidismo Congênito/fisiopatologia , Suplementos Nutricionais/análise , Feminino , Humanos , Recém-Nascido , Iodo/administração & dosagem , Masculino , Triagem Neonatal , Política Nutricional , Placenta/metabolismo , GravidezRESUMO
OBJECTIVE: To determine whether environmental perchlorate exposure adversely affects thyroid function in women in the first trimester of pregnancy. METHODS: First-trimester pregnant women were recruited from prenatal clinics in the Los Angeles County Hospital, Los Angeles, California, and in the Hospital Universitario de Maternidad dependent Universidad Nacional de Córdoba, Córdoba, Argentina, between 2004 and 2007. Spot urine and blood specimens were obtained during the clinic visit. Urinary perchlorate, iodine, and creatinine were measured, and thyroid function tests were performed. RESULTS: The study included 134 pregnant women from Los Angeles, California (mean gestational age ± SD = 9.1 ± 2.2 weeks), and 107 pregnant women from Córdoba, Argentina (mean gestational age = 10.0 ± 2.0 weeks). Median urinary iodine values were 144 µg/L in California and 130 µg/L in Argentina. Urinary perchlorate levels were detectable in all women (California: median, 7.8 µg/L [range, 0.4-284 µg/L] and Argentina: median, 13.5 µg/L [range, 1.1-676 µg/L]). Serum thyroperoxidase antibodies were detectable in 21 women from California (16%) and in 17 women from Argentina (16%). Using Spearman rank correlation analyses, there was no association between urinary perchlorate concentrations and serum thyrotropin, free thyroxine index, or total triiodothyronine values, including within the subset of women with urinary iodine values less than 100 µg/L. In multivariate analyses using the combined Argentina and California data sets and adjusting for urinary iodine concentrations, urinary creatinine, gestational age, and thyroperoxidase antibody status, urinary perchlorate was not a significant predictor of thyroid function. CONCLUSIONS: Low-level perchlorate exposure is ubiquitous, but is not associated with altered thyroid function among women in the first trimester of pregnancy.
Assuntos
Percloratos/efeitos adversos , Gestantes , Glândula Tireoide/efeitos dos fármacos , Argentina/epidemiologia , California/epidemiologia , Exposição Ambiental/efeitos adversos , Feminino , Humanos , Iodo/urina , Los Angeles/epidemiologia , Percloratos/farmacologia , Percloratos/urina , Gravidez , Complicações na Gravidez/induzido quimicamente , Complicações na Gravidez/epidemiologia , Primeiro Trimestre da Gravidez/sangue , Primeiro Trimestre da Gravidez/efeitos dos fármacos , Doenças da Glândula Tireoide/induzido quimicamente , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/urina , Testes de Função Tireóidea , Poluentes Químicos da Água/efeitos adversos , Poluentes Químicos da Água/farmacologiaRESUMO
OBJECTIVE: To investigate reports of iodine-deficiency disorder in a specific area of Haiti. METHODS: In March 2008, this cross-sectional study was performed in an area 15 miles northeast of Jacmel, Haiti, within the Chaîne de la Selle Mountains. Before arrival of the study team, an announcement was made throughout local villages soliciting volunteers to meet at a central location. Of those who arrived, participants were selected in an attempt to sample individuals from all age groups, regardless of goiter status. After providing verbal informed consent, each participant was photographed and assigned a number to be used to protect privacy. An examiner performed palpation of the thyroid gland on each participant in accordance with World Health Organization criteria. Results of palpation were classified into 3 grades: grade 0, the thyroid gland was not palpable; grade 1, the thyroid gland was palpable but not visible; and grade 2, the thyroid gland was palpable and visible while the patient was in a normal position. Casual urine samples were collected from each participant and analyzed spectrophotometrically for urinary iodine concentration. RESULTS: Eighty-eight individuals aged 2 to 72 years participated in the study. Median urinary iodine concentration was 39 microg/L. Of the 88 participants, 82 (93%) were iodine deficient (18 [20%] were severely deficient), and 45 (51%) had goiter on physical examination, including 27 with grade 1 goiters and 18 with grade 2 goiters. CONCLUSIONS: We have documented iodine deficiency with associated endemic goiter in this previously uninvestigated Haitian population, for which world health agencies currently lack definitive data. These data have potential implications for both the local area and the country as a whole where further evaluation and treatment are needed for persons at high risk for iodine-deficiency disorder.
Assuntos
Bócio Endêmico/fisiopatologia , Iodo/deficiência , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Bócio Endêmico/epidemiologia , Bócio Endêmico/urina , Haiti/epidemiologia , Humanos , Iodo/urina , Adulto JovemRESUMO
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil.
Assuntos
Deficiência de Biotinidase/diagnóstico , Mutação/genética , Triagem Neonatal , Deficiência de Biotinidase/epidemiologia , Deficiência de Biotinidase/genética , Brasil/epidemiologia , Feminino , Genótipo , Humanos , Incidência , Recém-Nascido , MasculinoRESUMO
Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10 percent of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30 percent of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09 percent). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Deficiência de Biotinidase/diagnóstico , Mutação , Triagem Neonatal , Brasil , Deficiência de Biotinidase/epidemiologia , Deficiência de Biotinidase/genética , Genótipo , IncidênciaRESUMO
Screening for tyrosinemia is not routinely performed worldwide. Using a low expense thin-layer chromatography (TLC) for amino acids we detected a high frequency of transient tyrosinemia with secondary hyperphenylalaninemia in some newborns. Serum follow up showed the need to introduce adequate therapy in these babies.
Assuntos
Cromatografia em Camada Fina , Triagem Neonatal , Fenilalanina/sangue , Tirosina/sangue , Tirosinemias/diagnóstico , Humanos , Recém-Nascido , Tirosinemias/terapiaRESUMO
We present the experience and figures about a screening program in South Brazil carried on in Porto Alegre, capital of the Southern Brazilian State. We present the tests performed routinely in our laboratory, the prevalence of some diseases and tests for infectious diseases to be added in the most comprehensive regional program in our country.
Assuntos
Triagem Neonatal , Brasil/epidemiologia , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Triagem Neonatal/estatística & dados numéricos , Prevalência , Toxoplasmose Congênita/diagnóstico , Toxoplasmose Congênita/epidemiologiaRESUMO
OBJECTIVE: To evaluate the frequency of transient neonatal tyrosinemia, with or without secondary hyperphenylalaninemia,observed through neonatal screening for metabolic disorders, andthe need of monitoration and intervention with drugs and/or specialdiet in selected cases. METHODS: 457.870 dried blood samples obtained by heel stickfrom 3 to 20 days old babies were qualitatively evaluated by aminoacid thin-layer chromatography. Positive cases were quantitativelyconfirmed in serum samples by fluorimetric measurement of tyrosineand phenylalanine. RESULTS: 1.231 dried blood samples displayed positive resultsfor tyrosine in the cromatographic evaluation. The fluorimetricserum analysis disclosed normal levels of tyrosine and phenylalaninein 822 patients. The remained 409 patients showed hightyrosine levels and were placed in three groups according to thetyrosine concentration. In 118 of these cases serum phenylalaninewas also increased. CONCLUCIONS: Transient neonatal tyrosinemia is a very frequentdisorder in neonates (1/372); in some cases very high levels werefound, not only of tyrosine but also phenylalanine. As this findingis not yet accepted as absolutely harmless, the monitoration of thissituation and the use of measures to lower the tyrosine and phenylalaninelevels should be considered by the pediatrician.
RESUMO
We prospectively followed a group of unimmunized, immunosuppressed children with cancer to determine their relative risk of influenza and the severity of infection compared with those of siblings or matched community controls. The incidence of influenza infection was higher in children with cancer (23/73, 32%) than in control subjects (10/70, 14%, p = 0.02). A preseason hemagglutination inhibition titer greater than or equal to 1:32, generally used as a marker of successful immunization in vaccine trials, was protective for all children in the control groups, but did not prevent influenza infection in 24% of the patients with cancer. Infection rates of patients and community controls with titers greater than or equal to 1:32 differed significantly (p = 0.006). No significant differences were noted in duration of reported symptoms between groups, and clinical complications occurred too infrequently to analyze. However, 2 (11%) of 18 of the cancer patients with positive culture results were hospitalized during the illness and one patient developed a nosocomial infection. None of the control children was hospitalized. These findings suggest the need for further study of the immunologic response of immunosuppressed children to influenza infection and a clinical efficacy trial of the influenza vaccine in these patients.