RESUMO
Pollution of the environment is increasing and threatens the health and wellbeing of adults and children around the globe. The impact of air pollution on pulmonary and cardiovascular disease has been well documented, but it also has a deleterious effect on reproductive health. Ulaanbaatar, the capital city of Mongolia, has one of the highest levels of air pollution in the world. During the extreme winters when temperatures routinely fall below -20 °C the level of air pollution can reach 80 times the WHO recommended safe levels. Heating mainly comes from coal, which is burned both in power stations, and in stoves in the traditional Ger housing. We studied the impact of air pollution on conception rates and birth outcomes in Ulaanbaatar using a retrospective analysis of health data collected from the Urguu Maternity hospital in Ulaanbaatar, Mongolia. Daily levels of SO2, NO2, PM10, and PM2.5 were collected from the government Air Quality Monitoring Stations in Ulaanbaatar for the same period as the study. In January, the month of highest pollution, there is a 3.2-fold decrease in conceptions that lead to the successfully delivered infants compared to October. The seasonal variations in conceptions resulting in live births in this study in Ulaanbaatar are shown to be 2.03 ± 0.20 (10-sigma) times greater than those in the Denmark/North America study of Wesselink et al., 2020. The two obvious differences between Ulaanbaatar and Europe/North America are pollution and temperature both of which are extreme in Ulaanbaatar. The extreme low temperature is mitigated by burning coal, which is the main source of domestic heat especially in the ger districts. This drives the level of pollution so the two are inextricably linked. Infants conceived in the months of June-October had the greatest cumulative PM2.5 pollution exposure over total gestation, yet these were also the pregnancies with the lowest PM2.5 exposure for the month of conception and three months prior to conception. The delivered-infant conception rate shows a markedly negative association with exposure to PM2.5 prior to and during the first month of pregnancy. This overall reduction in fecundity of the population of Ulaanbaatar is therefore a preventable health risk. It is of great consequence that the air pollution in Ulaanbaatar affects health over an entire lifespan including reproductive health. This could be remedied with a clean source of heating.
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Poluentes Atmosféricos , Poluição do Ar , Adulto , Poluentes Atmosféricos/análise , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , Criança , Carvão Mineral , Exposição Ambiental/análise , Monitoramento Ambiental , Europa (Continente) , Feminino , Fertilidade , Calefação , Humanos , Lactente , Mongólia , América do Norte , Material Particulado/análise , Gravidez , Estudos Retrospectivos , Estações do AnoRESUMO
We examined racial and ethnic differences in the prevalence of behavioral problems measured by the Child Behavioral Checklist (CBCL), sleep disturbances measured by the Child Sleep Habits Questionnaire (CSHQ), and medication use among children with Autism Spectrum Disorders (ASD). We analyzed data from the Autism Treatment Network (ATN) dataset for 2,576 children ages 6 to 18 years of age diagnosed with ASD. Multivariable logistic regression accounting for age, gender, Diagnostic and Statistical Manual of Mental Disorders (4th Edition - Text Revision), diagnosis (Autistic Disorder, PDD-NOS, Asperger's Disorder), and parents' education did not show any racial or ethnic differences in behavioral challenges, conduct problems, or sleep disturbances for any of the groups, but Black children had lower odds of Total Problem Behaviors and Asian children had lower odds of Hyperactivity compared to White children. As a group, children from racial and ethnic minorities had lower odds of Total Problem Behaviors and Conduct Problems compared to White children. Hispanic children had lower odds of medication use for Behavioral Challenges, Total Problem Behaviors, Hyperactivity, and Conduct Problems. Asian children had lower odds of medication use for Behavioral Challenges, Total Problem Behaviors, and Hyperactivity; and had close to lower odds in medication use for Conduct Problems. Black children had lower odds for medication use for Total Problem Behaviors only. As a group, children from racial and ethnic minorities had lower odds for medication use for Behavioral Challenges, Total Problem Behaviors, Hyperactivity, and Conduct problems, but not for Sleep Disturbances. While these results are consistent with previous studies showing that White children are significantly more likely to receive psychotropic medication compared to children from racial and ethnic minority groups, we found no such differences for sleep challenges, suggesting that they are more consistently identified and equitably treated than other behavioral problems associated with ASD. We draw upon Andersen's (1995) Behavioral Model of Healthcare Use to suggest predisposing, enabling, and needs factors that may contribute to this pattern of racial and ethnic differences in the use of medications among children ASD.
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Transtorno do Espectro Autista/tratamento farmacológico , Transtorno do Espectro Autista/etnologia , Transtorno do Espectro Autista/fisiopatologia , Comportamento Problema , Adolescente , Criança , Conjuntos de Dados como Assunto , Feminino , Humanos , Masculino , Grupos Minoritários/estatística & dados numéricos , Prevalência , Estados Unidos/etnologia , População Branca/etnologiaRESUMO
BACKGROUND: Traumatic injury and the presence of a central venous catheter are 2 of the strongest risk factors for venous thromboembolism in children. The purpose of this study was to determine the incidence of symptomatic, catheter-associated thrombosis in critically injured children. We hypothesized that femoral venous catheters are associated with a greater rate of thrombotic complications when compared with all other central venous access points. METHODS: We reviewed a retrospective cohort (2006-2016) of injured children (≤18 years) admitted to a pediatric intensive care unit with central access placed ≤7 days from admission. Symptomatic, catheter-associated thrombosis was determined by radiographic evidence. Poisson regression was used to compare the incidence of catheter-associated thrombosis per 1,000 catheter days between femoral and nonfemoral catheters. All comparisons were 2-tailed with α = 0.05. RESULTS: We examined 209 pediatric trauma patients with central access (65% femoral, 19% subclavian, 11% arm vein, and 5% internal jugular). Femoral catheters were removed earlier (median [interquartile range] 4 [2-7] vs 8 [3-12] days, P < .001) and were larger in diameter (5 Fr [4-7] vs 4 Fr [4-4], P < .001) when compared with all other catheters. Catheter-associated thrombosis was more frequent in femoral versus nonfemoral catheters (18.4 vs 3.5 per 1,000 catheter days, P = .01). CONCLUSION: Femoral venous catheters are associated with a greater incidence of symptomatic, catheter-associated thrombosis in pediatric trauma patients. When central venous access is indicated for injured children, the femoral site should be avoided. If a femoral venous catheter is necessary, use of a smaller catheter should be considered.
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Cateterismo Venoso Central/efeitos adversos , Cateteres Venosos Centrais/efeitos adversos , Veia Femoral/cirurgia , Trombose/epidemiologia , Ferimentos e Lesões/cirurgia , Fatores Etários , Cateterismo Venoso Central/instrumentação , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , Trombose/etiologia , Ferimentos e Lesões/complicaçõesRESUMO
OBJECTIVES: To analytically characterize the doses of estradiol and progesterone found in compounded combined forms of oral capsule and transdermal cream formulations, and determine the consistency of the hormone formulations within a batch. METHODS: Prescriptions for combined estradiol/progesterone capsules (0.5 and 100âmg, respectively) and creams (0.5 and 100âmg/g, respectively) were sent to 15 custom-compounding pharmacies. Estradiol and progesterone levels were measured by radioimmunoassays. Hormone levels were measured in 2 capsules and 2 creams from each pharmacy; 10 capsules from 3 pharmacies; and top/middle/bottom layer of cream containers to assess consistency. The magnitude and sources of variation for the measurements were examined by analysis of variance models. RESULTS: Thirteen pharmacies filled the prescriptions. Measured estradiol levels were 0.365 to 0.551âmg for capsules and 0.433 to 0.55âmg/g for creams, and progesterone levels were 90.8 to 135âmg for capsules and 93 to 118âmg/g for creams. Greater variations in estradiol levels were observed between pharmacies for estradiol in capsules than in creams; however, measured estradiol levels within pharmacies were more consistent in the capsules than the creams. Similar results were obtained for progesterone levels. CONCLUSION: The variations in estradiol and progesterone levels observed in compounded hormone therapy formulations justify concerns regarding risks as a result of variability, which have been outlined by The North American Menopause Society, the American College of Obstetricians and Gynecologists, and the US Food and Drug Administration (FDA) in their statements regarding compounded hormone use. These data support the need for an US FDA-approved bioidentical hormone therapy. : Video Summary: Supplemental Digital Content 1, http://links.lww.com/MENO/A425.
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Estradiol/química , Terapia de Reposição de Estrogênios , Menopausa , Farmácias/normas , Progesterona/química , Cápsulas , Composição de Medicamentos/normas , Feminino , Humanos , Creme para a Pele , Estados UnidosRESUMO
Purpose To determine whether whole-brain irradiation, chemotherapy, and primary brain pathologic conditions affect magnetic resonance (MR) imaging signal changes in pediatric patients independent of the administration of gadolinium-based contrast agents (GBCAs). Materials and Methods This institutional review board-approved, HIPAA-compliant study included 144 pediatric patients who underwent intravenous GBCA-enhanced MR imaging examinations (55 patients with primary brain tumors and whole-brain irradiation, 19 with primary brain tumors and chemotherapy only, 52 with primary brain tumors without any treatment, and 18 with neuroblastoma without brain metastatic disease). The signal intensities (SIs) in the globus pallidus (GP), thalamus (T), dentate nucleus (DN), and pons (P) were measured on unenhanced T1-weighted images. GP:T and DN:P SI ratios were compared between groups by using the analysis of variance and were analyzed relative to group, total cumulative number of doses of GBCA, age, and sex by using multivariable linear models. Results DN:P ratio for the radiation therapy group was greater than that for the other groups except for the group of brain tumors treated with chemotherapy (P < .05). The number of GBCA doses was correlated with the DN:P ratio for the nontreated brain tumor group (P < .0001). The radiation therapy-treated brain tumor group demonstrated higher DN:P ratios than the nontreated brain tumor group for number of doses less than or equal to 10 (P < .0001), whereas ratios in the nontreated brain tumor group were higher than those in the radiation therapy-treated brain tumor group for doses greater than 20 (P = .05). The GP:T ratios for the brain tumor groups were greater than that for the neuroblastoma group (P = .01). Conclusion Changes in SI of the DN and GP that are independent of the administration of GBCA occur in patients with brain tumors undergoing brain irradiation, as well as in patients with untreated primary brain tumors. © RSNA, 2017.
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Neoplasias Encefálicas/diagnóstico por imagem , Meios de Contraste/farmacocinética , Gadolínio DTPA/farmacocinética , Imageamento por Ressonância Magnética , Neuroblastoma/diagnóstico por imagem , Administração Intravenosa , Adolescente , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/terapia , Núcleos Cerebelares/diagnóstico por imagem , Núcleos Cerebelares/patologia , Criança , Pré-Escolar , Meios de Contraste/administração & dosagem , Relação Dose-Resposta a Droga , Relação Dose-Resposta à Radiação , Feminino , Globo Pálido/diagnóstico por imagem , Globo Pálido/patologia , Humanos , Aumento da Imagem , Masculino , Neuroblastoma/patologia , Neuroblastoma/terapia , Ponte/diagnóstico por imagem , Ponte/patologia , Estudos Retrospectivos , Tálamo/diagnóstico por imagem , Tálamo/patologiaRESUMO
ß-adrenergically stimulated sweat secretion depends on the function of the cystic fibrosis transmembrane conductance regulator (CFTR) and discriminates between cystic fibrosis (CF) patients and healthy controls. Therefore, we sought to determine the feasibility, safety, and efficacy of assaying ß-adrenergic sweating in children identified by CF newborn screening to help determine prognoses for individuals with CFTR-related metabolic syndrome (CRMS). Preschool age children with a positive newborn screening test for CF participated in this cross-sectional study. Sweat rates were measured by evaporimetery (cyberDERM, inc.) as transepidermal water losses (g H2O/m2/h) before and after selectively stimulating sweat glands either cholinergically or ß-adrenergically. Net peak sweat responses assayed as evaporation rates were compared between CF and CRMS cohorts. After a pilot test in adults, children between 4 and 6 years of age were evaluated (CF, n = 16; CRMS, n = 10). The test protocol was well tolerated; electrocardiograms and vital signs were within normal range for all subjects. The mean evaporative sweat rates in both groups in response to cholinergic stimulation were similar (CF, 60.3 ± 23.8; CRMS, 57.7 ± 13.9; p = 0.72) as well as to ß-adrenergic stimulation (CF, 1.1 ± 1.7; CRMS, 2.0 ± 2.0; p = 0.14). The ß-adrenergic sweat test is safe and well tolerated by young children. However, the ß-adrenergic sweat secretion rates as measured by evaporimetery did not discriminate between CF and CRMS cohorts.
RESUMO
To evaluate the efficacy of nontransplant surgery for pediatric cholestasis, 58 clinically diagnosed children, including 20 with Alagille syndrome (ALGS), 16 with familial intrahepatic cholestasis-1 (FIC1), 18 with bile salt export pump (BSEP) disease, and 4 others with low γ-glutamyl transpeptidase disease (levels <100 U/L), were identified across 14 Childhood Liver Disease Research Network (ChiLDReN) centers. Data were collected retrospectively from individuals who collectively had 39 partial external biliary diversions (PEBDs), 11 ileal exclusions (IEs), and seven gallbladder-to-colon (GBC) diversions. Serum total bilirubin decreased after PEBD in FIC1 (8.1 ± 4.0 vs. 2.9 ± 4.1 mg/dL, preoperatively vs. 12-24 months postoperatively, respectively; P = 0.02), but not in ALGS or BSEP. Total serum cholesterol decreased after PEBD in ALGS patients (695 ± 465 vs. 457 ± 319 mg/dL, preoperatively vs. 12-24 months postoperatively, respectively; P = 0.0001). Alanine aminotransferase levels increased in ALGS after PEBD (182 ± 70 vs. 260 ± 73 IU/L, preoperatively vs. 24 months; P = 0.03), but not in FIC1 or BSEP. ALGS, FIC1, and BSEP patients experienced less severely scored pruritus after PEBD (ALGS, 100% vs. 9% severe; FIC1, 64% vs. 10%; BSEP, 50% vs. 20%, preoperatively vs. >24 months postoperatively, respectively; P < 0.001). ALGS patients experienced a trend toward greater freedom from xanthomata after PEBD. There was a trend toward decreased pruritus in FIC1 after IE and GBC. Vitamin K supplementation increased in ALGS after PEBD (33% vs. 77%; P = 0.03). Overall, there were 15 major complications after surgery. Twelve patients (3 ALGS, 3 FIC1, and 6 BSEP) subsequently underwent liver transplantation. CONCLUSION: This was a multicenter analysis of nontransplant surgical approaches to intrahepatic cholestasis. Approaches vary, are well tolerated, and generally, although not uniformly, result in improvement of pruritus and cholestasis. (Hepatology 2017;65:1645-1654).
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Colestase Intra-Hepática/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/estatística & dados numéricos , Circulação Êntero-Hepática , Adolescente , Criança , Pré-Escolar , Colestase Intra-Hepática/sangue , Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Phenylketonuria (PKU) is due to a defective hepatic enzyme, phenylalanine (Phe) hydroxylase. Transport of the precursor amino acids from blood into the brain for serotonin and dopamine synthesis is reported to be inhibited by high blood Phe concentrations. Deficiencies of serotonin and dopamine are involved in neurocognitive dysfunction in PKU. OBJECTIVE: (1) To evaluate the effects of sapropterin (BH4) and concurrent use of large neutral amino acids (LNAA) on the peripheral biomarkers, melatonin and dopamine with the hypothesis they reflect brain serotonin and dopamine metabolism. (2) To evaluate synergistic effects with BH4 and LNAA. (3) To determine the effects of blood Phe concentrations on the peripheral biomarkers concentrations. METHODS: Nine adults with PKU completed our study consisting of four 4-week phases: (1) LNAA supplementation, (2) Washout, (3) BH4 therapy, and (4) LNAA with BH4 therapy. An overnight protocol measured plasma amino acids, serum melatonin, and 6-sulfatoxymelatonin and dopamine in first void urine after each phase. RESULTS: (1) Three out of nine subjects responded to BH4. A significant increase of serum melatonin levels was observed in BH4 responders with decreased blood Phe concentration. No significant change in melatonin, dopamine or Phe levels was observed with BH4 in the subjects as a whole. (2) Synergistic effects with BH4 and LNAA were observed in serum melatonin in BH4 responders. (3) The relationship between serum melatonin and Phe showed a significant negative slope (p = 0.0005) with a trend toward differing slopes among individual subjects (p = 0.066). There was also a negative association overall between blood Phe and urine 6-sulfatoxymelatonin and dopamine (P = 0.040 and 0.047). CONCLUSION: Blood Phe concentrations affected peripheral monoamine neurotransmitter biomarker concentrations differently in each individual with PKU. Melatonin levels increased with BH4 therapy only when blood Phe decreased. Monitoring peripheral neurotransmitter metabolites may assist in optimizing individualized treatment in PKU.
Assuntos
Aminoácidos Neutros/uso terapêutico , Biopterinas/análogos & derivados , Suplementos Nutricionais , Fenilcetonúrias/tratamento farmacológico , Serotonina/metabolismo , Adulto , Biomarcadores/metabolismo , Biopterinas/efeitos adversos , Biopterinas/uso terapêutico , Dopamina/metabolismo , Dopamina/urina , Sinergismo Farmacológico , Feminino , Humanos , Masculino , Melatonina/sangue , Melatonina/metabolismo , Melatonina/urina , Pessoa de Meia-Idade , Fenilalanina/sangueRESUMO
BACKGROUND: At the cystic fibrosis transmembrane conductance regulator (CFTR) gene (IVS8)-(TG)m(T)n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and a higher number of (TG) repeats (TG-11 vs. 12 vs. 13) are associated with decreasing translation of functional CFTR protein in vitro. METHODS: Retrospective cohort study comparing phenotypes of California CF newborn screen-positive children (followed 2-8 years) who had two CF-causing mutations (diagnosed as CF) with those who had one mutation from a panel of 40 CF-causing mutations (CF40mut) and one (IVS8)-(TG)11, 12, or 13-5T mutation detected by sequencing (diagnosed as CFTR-related metabolic syndrome [cRMS]). RESULTS: The study included 428 children, of which 234 had two CF-causing mutations, and were used to compare with the other 194 children with one CF-causing mutation and one isolated 5T allele [CF40mut/(TG)13-5T = 21, CF40mut/(TG)12-5T = 85, and CF40mut/(TG)11-5T = 88]. Among children with CF40mut/(TG)13-5T, 38% were diagnosed with CF by 8 years, based on sweat chloride results and clinical presentation. Six percent of those with CF40mut/(TG)12-5T, and none with CF40mut/(TG)11-5T, reached diagnostic criteria. CONCLUSIONS: CFTR (IVS8)-(TG)m-5T allele (TG) tract length determination provides valuable information in predicting the risk of developing a CF phenotype. Of the three types of 5T alleles evaluated, screen-positive children with genotype CF40mut/(TG)13-5T progressed from CRMS to CF at a high rate, while there was little evidence of clinical disease in those with CF40mut/(TG)11-5T. Additional data from longer follow-up intervals are needed to fully understand the natural history of individuals with a CF40mut/(TG)m-5T genotype.
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Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Repetições de Dinucleotídeos , Alelos , California , Pré-Escolar , Estudos de Coortes , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Fenótipo , Estudos RetrospectivosRESUMO
OBJECTIVE: The purpose of this study is to measure peak acceleration forces during interfacility transport; examine whether drops in cerebral oxygenation occurred; and test the associations between cerebral oxygenation, acceleration, and patient positioning. METHODS: A cerebral oximeter (INVOS-5100C; Somanetics, Minneapolis, MN) monitored regional saturation of oxygen (rSO2 [cerebral oxygenation]) in pediatric and neonatal patients (N = 24) transported between facilities by ground ambulance, helicopter, or fixed wing aircraft. An accelerometer (GP1; SENSR, Georgetown, TX) bolted to the isolette or gurney recorded z-axis (aligned with the spine) accelerations. RESULTS: The z-axis peak accelerations (absolute values of g) by transport type were as follows: ground ambulance takeoff mean = 0.16 and landing mean = 0.08, helicopter takeoff mean = 0.16 and landing mean = 0.05, fixed wing aircraft takeoff mean = 0.14 and landing mean = 0.20. During takeoff, 2 of 7 patients in the head-to-front of vehicle position experienced rSO2 drop. During landing, 4 of 13 patients in the head-to-back of vehicle position experienced rSO2 drop. There were no significant associations of rSO2 drop during takeoff and landing with patient positioning or with z-axis peak acceleration. CONCLUSION: Acceleration forces of pediatric and neonatal interfacility transport are small and comparable in magnitude. The relationship between rSO2 drop and patient positioning was not significant in this pilot study.
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Aceleração/efeitos adversos , Resgate Aéreo , Encéfalo/irrigação sanguínea , Transporte de Pacientes/métodos , Química Encefálica , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Oximetria , Oxigênio/análise , Projetos Piloto , Postura , Estudos ProspectivosRESUMO
BACKGROUND: Of the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance. METHODS: We conducted a retrospective cohort study based on children screened from 2007 to 2011 and followed for two to six years. Newborns that screened positive were divided into three genotype groups: those with two CF-causing mutations (CF-C); those with one mutation of varying clinic consequence (VCC); and those with one mutation of unknown disease liability (Unknown). Sweat chloride tests, pancreatic sufficiency status, and Pseudomonas aeruginosa colonization were compared. RESULTS: Children with two CF-causing mutations had a classical CF phenotype, while 5% of VCC (4/78) and 11% of Unknown (27/244) met diagnostic criteria of CF. Children carrying Unknown mutations 2215insG with D836Y, and T1036N had early and classical CF phenotype, while others carrying 1525-42G>A, L320V, L967S, R170H, and 296+28A>G had a benign clinical presentation, suggesting that these are non-CF causing. CONCLUSIONS: While most infants with VCC and Unknown CFTR mutations do not meet diagnostic criteria for CF, a small proportion do. These findings highlight the range of genotypes and phenotypes in the first few years of life following CF newborn screening when CFTR sequencing is performed.
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Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Mutação , Triagem Neonatal , California , Pré-Escolar , Análise Mutacional de DNA , Feminino , Seguimentos , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Análise de Sequência de DNARESUMO
OBJECTIVE: Little is known about the relationship between vitamin D deficiency and adolescents with type 1 diabetes. On the basis of adult studies showing that vitamin D improves insulin sensitivity and decreases inflammatory cytokines linked to microvascular complications, we hypothesized that treating vitamin D deficiency in adolescents with type 1 diabetes would improve glycemia and reduce inflammatory markers. RESEARCH DESIGN AND METHODS: This was a randomized, prospective, crossover study of 25 adolescents with type 1 diabetes for at least a year (aged: 13-21 yr; 62% female; 62% Hispanic) and vitamin D deficiency (25-OH vitamin D ≤30 ng/mL). Subjects received vitamin D3 (20 000 IU/week) for 6 months, either immediately or after 6 months of observation. RESULTS: At baseline, 63% of subjects screened were vitamin D deficient and randomized. Interleukin-6 (IL-6) was significantly higher in the vitamin D deficient group compared with the sufficient group (medians: 0.36 vs. 0.18) (p = 0.026), whereas neither C-reactive protein (CRP) nor tumor necrosis factor-α (TNF-α) differed. Vitamin D treatment increased serum levels of 25-OH vitamin D from 22 ± 5.3 to 34.3 ± 12.1 ng/mL (p < 0.01). However, treatment did not affect glycated hemoglobin (HbA1c), insulin dosage, CRP, interleukin-6 (IL-6), or TNF-α. CONCLUSIONS: Vitamin D deficiency is prevalent in the adolescent type 1 diabetes population, and could be associated with changes in inflammatory markers. However, vitamin D repletion over 6 months did not affect glycemia or markers of inflammation in our study, highlighting the need for additional research to validate these findings.
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Glicemia/metabolismo , Colecalciferol/administração & dosagem , Citocinas/sangue , Diabetes Mellitus Tipo 1/complicações , Inflamação/sangue , Deficiência de Vitamina D/tratamento farmacológico , Adolescente , Biomarcadores/sangue , Estudos Cross-Over , Diabetes Mellitus Tipo 1/sangue , Relação Dose-Resposta a Droga , Feminino , Humanos , Masculino , Estudos Prospectivos , Vitamina D , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/complicações , Vitaminas/administração & dosagem , Adulto JovemRESUMO
BACKGROUND: The Clinical and Functional Translation of CFTR project (CFTR2) classified some cystic fibrosis transmembrane conductance regulator (CFTR) gene variants as non-cystic fibrosis (CF)-causing. To evaluate this, the clinical status of children carrying these mutations was examined. METHODS: We analyzed CF disease-defining variables over 2-6 years in two groups of California CF screen- positive neonates born from 2007 to 2011: (1) children with two CF-causing variants and (2) children with one CF-causing and one non-CF-causing variant, as defined by CFTR2. RESULTS: Children carrying non-CF-causing variants had significantly higher birth weight, lower immunoreactive trypsinogen and sweat chloride values, higher first year growth curves, and a lower rate of persistent Pseudomonas aeruginosa colonization compared to children with two CF-causing variants. CONCLUSIONS: The outcomes in children 2-6 years of age with the L997F, G576A, R1162L, V754M, R668C, R31C, and S1235R variants are consistent with the CFTR2 non-CF-causing classification.
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Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Mutação , Triagem Neonatal , Estudos de Coortes , Fibrose Cística/diagnóstico , Feminino , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVES: To evaluate the effects of tetrahydrobiopterin (BH4) on maladaptive behavior in patients with phenylketonuria (PKU). METHODS: In an effort to determine if BH4 has any effects on the central nervous system, we studied 10 individuals with PKU and measurable maladaptive behaviors for 1 year. Behavioral assessments using the Vineland Adaptive Behavior Scales-Second Edition and a PKU Behavior Checklist were obtained at baseline, 6 months, and at the end of the study. Biochemical measures including plasma amino acids were obtained quarterly, and phenylalanine (Phe) and tyrosine (Tyr) were obtained monthly. RESULTS: Out of the 10 subjects, 2 were responders to BH4, as determined by a blood Phe reduction >30%. While blood Phe in the 8 nonresponders did not change significantly throughout the study, their Tyr levels were significantly higher at 6 months (p=0.012), but not at 12 months (p=0.23). By the end of the study, 8 subjects exhibited fewer maladaptive behaviors on the components of the Vineland Maladaptive Behavior Index, and all 10 had lower total scores on the PKU Behavior Checklist. CONCLUSION: These findings suggest that there may be direct effects of BH4 on the central nervous system, independent of lowering blood Phe.
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Biopterinas/análogos & derivados , Transtornos Mentais/tratamento farmacológico , Transtornos Mentais/psicologia , Fenilcetonúrias/tratamento farmacológico , Fenilcetonúrias/psicologia , Adaptação Psicológica , Adulto , Biopterinas/uso terapêutico , Dieta , Feminino , Humanos , Masculino , Transtornos Mentais/etiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Fenilcetonúrias/complicações , Projetos PilotoRESUMO
Few studies have examined the role that small for gestational age (SGA) status plays in postoperative outcomes for low-birth-weight (LBW) infants with congenital heart disease (CHD). This study aimed to examine the effect of SGA status, gestational and chronologic age, and weight on differences in morbidities and mortalities during the immediate postoperative hospitalization period. The charts of infants with CHD weighing less than 2.5 kg who underwent operative repair during the neonatal period between 2004 and 2011 were reviewed. Infants with an isolated patent ductus arteriosus were excluded from the study. Data on hospital morbidities and mortality before discharge were collected. The study identified 136 LBW infants with a diagnosis of CHD. Among the 74 infants who underwent surgery and had complete chart records, the SGA infants had a higher gestational age at birth (36.8 vs. 32.3 weeks; p < 0.0001). The SGA and non-SGA infants did not differ in terms of survival to discharge or immediate postoperative outcomes. A lower weight at surgery was significantly associated with an increased risk of postoperative infection. In contradistinction, an older postnatal age at surgery was associated with an increased risk of preoperative infection (p < 0.0001). Additionally, lower gestational age at birth was associated with home oxygen use, higher tracheostomy rates, and discharge with a gastrostomy tube. Small for gestational age status played no protective role in the outcome for LBW infants after primary surgery for CHD. A weight of 2.4 kg or greater at the time of surgery was associated with lower rates of postoperative infections. Greater duration of time between birth and surgery was associated with a greater risk of preoperative infection. A gestational age of 32 weeks or more at birth was associated with decreased morbidities, which could influence obstetric management.
Assuntos
Cardiopatias Congênitas/cirurgia , Recém-Nascido de Baixo Peso , Recém-Nascido Pequeno para a Idade Gestacional , Feminino , Idade Gestacional , Cardiopatias Congênitas/mortalidade , Mortalidade Hospitalar , Humanos , Recém-Nascido , Masculino , Complicações Pós-Operatórias , Fatores de Risco , Resultado do TratamentoRESUMO
The standard of care is to obtain a noninvasive blood pressure (NIBP) measurement from the right upper arm. However, in the pediatric population it is common practice to take blood pressure (BP) measurements from the calf/upper ankle. Nurses commonly take calf NIBPs for many reasons, but there is little evidence to support calf BPs as a reliable site for BP measurement. Furthermore, there is conflicting evidence. Some studies suggest no difference between the calf and the upper arm BPs, whereas others conclude great variability between the two. The purpose of this study was to demonstrate the reliability of calf BPs, by showing no difference between brachial and calf BP measurements in neonates and infants ≤ 1 year old. From July 2008 to December 2008, a convenience sample of 52 subjects admitted to the Neonatal and Infant Critical Care Unit were enrolled into the study. Limb selection was not randomized. Three BPs were taken from the arm and 3 BPs were taken from the calf. Data were analyzed using a mixed analysis of variance (P = 0.05). The difference was not significant for systolic (P = 0.6159) or mean BP (P = 0.1298), but it was significant for diastolic (P = 0.0263). The authors concluded that these results support the current practice of bedside nurses and contribute to the limited knowledge on this topic. Because there was a difference in the diastolic BPs, further investigation is needed.
Assuntos
Determinação da Pressão Arterial/métodos , Pressão Sanguínea/fisiologia , Índice Tornozelo-Braço/métodos , Braço/fisiologia , Feminino , Humanos , Lactente , Recém-Nascido , Perna (Membro)/fisiologia , Masculino , Estudos Prospectivos , Reprodutibilidade dos Testes , Estados UnidosRESUMO
OBJECTIVE: To determine whether additional supplementation of tryptophan (Trp) and tyrosine (Tyr) improve serotonin and dopamine metabolism in individuals with phenylketonuria treated with large neutral amino acid (LNAA) tablets. STUDY DESIGN: Ten adult individuals with phenylketonuria participated in a randomized, double-blind, placebo-controlled cross-over study consisting of three 3-week phases: washout, treatment with LNAA tablets plus supplementation with either Trp and Tyr tablets or placebo, and LNAA tablets plus the alternate supplementation. An overnight protocol to measure blood melatonin, a serotonin metabolite in the pinealocytes, and urine 6-sulfatoxymelatonin and dopamine in first-void urine specimens was conducted after each phase. RESULTS: Serum melatonin and urine 6-sulfatoxymelatonin and dopamine levels were increased in the LNAA phase (LNAA plus placebo) compared with the washout phase. Serum melatonin and urine 6-sulfatoxymelatonin were not increased in the active phase (LNAA plus Trp + Tyr) compared with the LNAA phase, although plasma Trp:LNAA was increased compared with the LNAA phase. Among 7 subjects with a plasma Trp/LNAA >0.03, a negative correlation between urine 6-sulfatoxymelatonin and plasma phenylalanine levels was observed (r = -0.072). Urine dopamine levels and plasma Tyr:LNAA were increased in the active phase compared with the LNAA phase. CONCLUSION: Melatonin levels were not increased with the higher dose of Trp supplementation, but dopamine levels were increased with the higher dose of Tyr supplementation. Serotonin synthesis appears to be suppressed by high phenylalanine levels at the Trp hydroxylase level.
Assuntos
Aminoácidos Neutros/uso terapêutico , Biomarcadores/sangue , Dopamina/sangue , Melatonina/análogos & derivados , Melatonina/sangue , Fenilcetonúrias/tratamento farmacológico , Triptofano/uso terapêutico , Tirosina/uso terapêutico , Adulto , Cromatografia Líquida de Alta Pressão , Estudos Cross-Over , Suplementos Nutricionais , Método Duplo-Cego , Feminino , Humanos , Masculino , Melatonina/urina , Pessoa de Meia-Idade , Fenilcetonúrias/sangue , Fenilcetonúrias/urina , Serotonina/metabolismo , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVE: The objective was to investigate changes in luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol (E2) and progesterone (P) during the hormone-free interval (HFI) of 6 combined oral contraceptives (COCs). DESIGN: Blood samples were obtained from 62 women. RESULTS: When COCs were grouped by ethinyl estradiol (EE) dose, there was a significant positive mean slope for LH and FSH during the HFI for the 30- and 35 mcg-EE doses, whereas 20 showed a gradual nonsignificant slope. All E2 slopes were significant. P remained suppressed with all doses. CONCLUSION: A more rapid rebound of gonadotropin levels is found with higher doses of EE during the HFI. IMPLICATIONS: This study showed a more rapid rebound of pituitary hormone levels among women using higher-EE-dosage formulations, which was demonstrated by the statistically significant slope for mean LH and FSH from day 1 to day 7 of the HFI. The degree of suppression did not vary across progestin generations. It remains to be established whether women who experience side effects during their HFI may benefit from using a COC with a lower EE dose to minimize changes in endogenous pituitary hormone levels.
Assuntos
Anticoncepcionais Orais Combinados/administração & dosagem , Estradiol/sangue , Etinilestradiol/administração & dosagem , Hormônio Foliculoestimulante/sangue , Hormônio Luteinizante/sangue , Progesterona/sangue , Adolescente , Adulto , Feminino , Humanos , Modelos Lineares , Estudos Prospectivos , Adulto JovemRESUMO
Cardiovascular lesions, including coronary artery stenosis, are frequently associated and can cause sudden death in patients with genetic defects of glycosaminoglycan (GAG) metabolism. Early diagnosis of coronary artery lesions is difficult, although potentially lifesaving. Histopathological similarities between atherosclerotic changes in adults and in patients with genetic GAG metabolism defects have been known. Atherosclerosis is the result of a complex process involving metabolism of GAGs and proteoglycans preceded by endothelial dysfunction as a key event. Decreased nitric oxide (NO) bioavailability is considered the hallmark of endothelial dysfunction. Reduced NO synthase (NOS) has been reported in atherosclerotic arteries. Impairment in reactive hyperemia-digital peripheral arterial tonometry (RH-PAT) with EndoPAT has been validated to correlate coronary microvascular function in patients with atherosclerosis. RH-PAT is thought to reflect endothelial NO production. Immunohistological staining of endothelial NOS was performed in the stenotic lesions in the coronary artery of a 3-year-old patient with Mucopolysaccharidosis-I, showing decreased activities. This prompted a study to measure endothelial function in patients with GAG metabolism defects for early diagnosis of endothelial dysfunction in the coronary arteries as an early sign of coronary artery changes. Evaluation by RH-PAT in 30 patients with variable genetic defects in GAG metabolism revealed significantly decreased Reactive Hyperemia Indexes compared with 12 controls. Evaluation of endothelial function with RH-PAT in patients with GAG metabolism defects may detect coronary artery lesions that can be underdiagnosed by the other measures such as coronary angiography. Use of this method may prove vital in the management of patients with GAG metabolism defects.