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1.
Osteoporos Int ; 35(3): 495-503, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37938405

RESUMO

INTRODUCTION: While the United States Preventative Services Task Force recommends osteoporosis screening for women 65 years and older, there is no definitive recommendation for routine osteoporosis screening in men. The purpose of this study was to determine the age at which the odds of fragility fractures (FFx) increase in men to help guide future policy discussions evaluating an optimal screening strategy in this population. METHODS: Men older than 49 years were identified in the PearlDiver Patient Records Database. Patients were excluded if they had a prior fragility fracture, if they were at high risk for osteoporosis due to comorbidities, or if they carried a diagnosis of and/or were on treatment for osteoporosis. The prevalence of FFx was trended for each age group. A stratum-specific likelihood ratio (SSLR) analysis was conducted to identify data-driven strata that maximize the incremental FFx risk by age for men. Logistic regression analyses controlling for potential confounders were conducted to test these identified strata. RESULTS: The incidence of FFx started to increase after the age of 64 years for men. Further, the identified data-driven age strata associated with a significant and incremental difference in fragility fractures were the following: 50-64, 65-69, 70-72, 73-75, 76-78, 79-80, and 81+. When compared to the youngest age stratum (50-64 years), multivariable regression showed the risk of fragility fracture incrementally increased starting in those aged 70-72 (RR, 1.31; 95% CI. 1.21-1.46; p < 0.001) with the highest risk in those aged 81+ (RR, 5.35; 95% CI, 5.10-5.62; p < 0.001). CONCLUSION: In men without a pre-existing history of osteoporosis, the risk of fragility fractures starts to increase after the age of 70. Further work building upon these data may help to identify a specific age at which routine bone health screening in males can help to minimize fractures and their associated morbidity and mortality.


Assuntos
Fraturas Ósseas , Osteoporose , Fraturas por Osteoporose , Masculino , Humanos , Feminino , Fraturas Ósseas/epidemiologia , Osteoporose/complicações , Osteoporose/epidemiologia , Envelhecimento , Osso e Ossos , Incidência , Fraturas por Osteoporose/etiologia , Fraturas por Osteoporose/complicações , Fatores de Risco
2.
Artigo em Inglês | MEDLINE | ID: mdl-31337926

RESUMO

PURPOSE: In-vivo evaluation of bone microarchitecture remains challenging because of limited resolution of conventional orthopaedic imaging modalities. We investigate the performance of flat-panel detector extremity Cone-Beam CT (CBCT) in quantitative analysis of trabecular bone. To enable accurate morphometry of fine trabecular bone architecture, advanced CBCT pre-processing and segmentation algorithms are developed. METHODS: The study involved 35 transilliac bone biopsy samples imaged on extremity CBCT (voxel size 75 µm, imaging dose ~13 mGy) and gold standard µCT (voxel size 7.67 µm). CBCT image segmentation was performed using (i) global Otsu's thresholding, (ii) Bernsen's local thresholding, (iii) Bernsen's local thresholding with additional histogram-based global pre-thresholding, and (iv) the same as (iii) but combined with contrast enhancement using a Laplacian Pyramid. Correlations between extremity CBCT with the different segmentation algorithms and gold standard µCT were investigated for measurements of Bone Volume over Total Volume (BV/TV), Trabecular Thickness (Tb.Th), Trabecular Spacing (Tb.Sp), and Trabecular Number (Tb.N). RESULTS: The combination of local thresholding with global pre-thresholding and Laplacian contrast enhancement outperformed other CBCT segmentation methods. Using this optimal segmentation scheme, strong correlation between extremity CBCT and µCT was achieved, with Pearson coefficients of 0.93 for BV/TV, 0.89 for Tb.Th, 0.91 for Tb.Sp, and 0.88 for Tb.N (all results statistically significant). Compared to a simple global CBCT segmentation using Otsu's algorithm, the advanced segmentation method achieved ~20% improvement in the correlation coefficient for Tb.Th and ~50% improvement for Tb.Sp. CONCLUSIONS: Extremity CBCT combined with advanced image pre-processing and segmentation achieves high correlation with gold standard µCT in measurements of trabecular microstructure. This motivates ongoing development of clinical applications of extremity CBCT in in-vivo evaluation of bone health e.g. in early osteoarthritis and osteoporosis.

3.
Osteoporos Int ; 26(5): 1555-62, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25619633

RESUMO

UNLABELLED: Fracture risk is increased in type 2 diabetes mellitus (T2DM). The effect of pre-diabetes and T2DM on bone macroarchitecture and strength has not been well investigated. In this study, we show that in women only, both pre-diabetes and T2DM are associated with decreased hip bending strength and mineralization which might lead to skeletal weakness. INTRODUCTION: Older men and women with T2DM are at increased risk for fracture despite normal bone mineral density (BMD). The discordance between bone quantity and skeletal fragility has driven investigation into additional determinants of fracture resistance in T2DM. Additionally, the effect of pre-diabetes on bone strength has not been well described. The aim of this study was to determine differences in bone macroarchitecture and strength, measured by hip geometry, in persons with normal glucose tolerance (NGT), impaired glucose tolerance (IGT), and T2DM. METHODS: We performed cross-sectional analyses of older (age >55 years) men (n = 472) and women (n = 473) participating in the Baltimore Longitudinal Study of Aging (BLSA) classified as NGT, IGT, or T2DM based on oral glucose tolerance testing. Bone strength measures included the hip geometry parameters of section modulus (Z), cross-sectional area (CSA), and buckling ratio (BR). Sex-stratified analyses were conducted using adjusted stepwise regression models. RESULTS: In women, IGT and T2DM were negatively associated with hip geometry parameters including mineralization in cross section (CSA, ß -0.076 and -0.073, respectively; both p < 0.05) and hip bending strength (Z, ß -0.097 and -0.09, respectively; both p < 0.05); conversely, IGT and T2DM were associated with improved compressive strength (BR, ß -0.31 and -0.29, respectively; both p < 0.05). There was no significant association between glycemic status and hip geometry in men. CONCLUSIONS: In women only, both IGT and T2DM were inversely associated with bone macroarchitecture and measures of bone mineralization and bending strength. The same association between worsening glycemic status and bone strength was not observed in men. These data suggest a differential effect of sex on hip geometry with evolving glucose intolerance.


Assuntos
Envelhecimento/patologia , Intolerância à Glucose/patologia , Articulação do Quadril/patologia , Idoso , Envelhecimento/fisiologia , Antropometria/métodos , Estudos Transversais , Diabetes Mellitus Tipo 2/patologia , Diabetes Mellitus Tipo 2/fisiopatologia , Progressão da Doença , Feminino , Colo do Fêmur/fisiopatologia , Intolerância à Glucose/fisiopatologia , Teste de Tolerância a Glucose/métodos , Articulação do Quadril/fisiopatologia , Humanos , Estudos Longitudinais , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Caracteres Sexuais
4.
Clin Genet ; 80(5): 466-71, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20950395

RESUMO

Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies syndrome with an X-linked inheritance. Most cases of SGBS are attributed to mutations in the glypican 3-gene (GPC3), which is highly expressed in the mesodermal embryonic tissues and involves in a local growth regulation. Typical clinical features include pre/postnatal overgrowth, developmental delay, macrocephaly, characteristic facies with prominent eyes and macroglossia, diaphragmatic hernia, congenital heart defects, kidney anomalies, and skeletal anomalies. Obligate carrier females with GPC3 mutations are usually asymptomatic or with mild symptoms. It is thought that skewed X-inactivation is the underlining mechanism for the female patients to present with findings of SGBS. We identified three siblings with typical SGBS (two male and one female cases) and their mother with very mild symptoms in a family carrying c.256C>T (p.Arg86X) mutation in GPC3. X-inactivation studies on the androgen-receptor gene (AR) and the Fragile XE (FRAXE) gene were performed with blood, buccal swabs, and fibroblasts in the carrier females. The studies with blood showed moderately skewed X-inactivation with paternal X-chromosome being preferentially inactivated (71-80% inactivated) in the female patient with SGBS and no skewing was shown in the mother with very mild symptoms. The X-inactivation studies in the mother showed inactivation of the X-chromosome with the mutation by 57%. This suggests that loss of the functional GPC3 protein by 43% is closed to the threshold to develop the SGBS phenotype. Studies with buccal swabs and fibroblasts failed to show different X-inactivation patterns between the two female individuals.


Assuntos
Anormalidades Múltiplas/genética , Arritmias Cardíacas/genética , Gigantismo/genética , Glipicanas/genética , Cardiopatias Congênitas/genética , Deficiência Intelectual/genética , Inativação do Cromossomo X/genética , Feminino , Síndrome do Cromossomo X Frágil/genética , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , Masculino , Mutação , Fenótipo , Receptores Androgênicos
5.
Clin Chim Acta ; 411(23-24): 2101-3, 2010 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-20807522

RESUMO

BACKGROUND: Tandem mass spectrometry based newborn screening programs (NBS) allow early diagnosis and treatment for a number of inborn metabolic disorders. Despite the improved prognosis of affected individuals, the knowledge regarding the potential risks of childbearing in many of these conditions remains limited. Newborns with isovaleric acidemia (IVA) have been diagnosed by NBS and most of them can thrive and develop normally. Many affected individuals will therefore reach childbearing age in the near future. The information about maternal IVA, however, is quite limited. CASE REPORT: Close observation of plasma amino acid, carnitine, and acylcarnitine profiles was performed in a patient with IVA that completed uneventful pregnancy. Plasma isovalerylcarnitine level was drastically decreased from the second trimester and free carnitine was inversely increased, suggesting reduced production of isovaleryl-CoA. This decrease of isovaleryl-CoA production was likely due to reduced leucine metabolism, secondary to the enhanced fetal anabolism associated with the rapid fetal growth of the second and the third trimesters. A decrease in maternal essential amino acids, including leucine was observed during the second and the third trimesters. CONCLUSION: This observation revealed distinctive metabolic profiles during pregnancy in a patient with IVA and supports close laboratory monitoring and diet management for successful pregnancy.


Assuntos
Aminoácidos/sangue , Aminoácidos/metabolismo , Carnitina/sangue , Carnitina/metabolismo , Mães , Complicações na Gravidez/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos , Feminino , Humanos , Recém-Nascido , Isovaleril-CoA Desidrogenase/sangue , Isovaleril-CoA Desidrogenase/deficiência , Isovaleril-CoA Desidrogenase/metabolismo , Nascido Vivo , Masculino , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/metabolismo , Erros Inatos do Metabolismo/fisiopatologia , Gravidez , Complicações na Gravidez/sangue , Complicações na Gravidez/fisiopatologia , Adulto Jovem
6.
J Inherit Metab Dis ; 32 Suppl 1: S197-200, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19562505

RESUMO

Newborn screening makes possible the early identification and treatment of asymptomatic ARG1-deficient patients; however, it is unknown whether early intervention prevents neurological insults. We identified a full-term Hispanic male infant with argininaemia by newborn screening with a serum arginine of 327 µmol/L (reference values 0-140); ARG1 was undetectable on enzyme assay. Sequence analysis of ARG1 revealed a heterozygous nonsense mutation, c.223A>T (p.K75X), and a novel heterozygous missense variant, c.425G>A (p.G142E). Dietary protein restriction began from age 3 months, with addition of sodium benzoate at 4 months, and carnitine from 14 months. For the past 6 years, his serum arginine concentrations were maintained between 268 and 763 µmol/L (reference values 10-140). He has normal development without spastic paraplegia, but with mild hepatomegaly and stable hepatic dysfunction. A full neurodevelopmental assessment was conducted at age 5 years. The BASC-2 rated the patient's behaviours as age-appropriate. The Leiter-R assessed his 'Fundamental Visualization', 'Sequential Order', and 'Picture Concept' at 'Average', 'Form Completion' and 'Matching' at 'Low Average', and 'Figure Ground' and 'Repeated Patterns' in the 'Deficit' range. The full-scale IQ and the functioning ability presented in the 'Borderline' range and in the 'Low Average' range, respectively. The VABS/Survey - Spanish Version showed difficulty in receptive and written language and fine and gross motor skills, and his performance to be at younger than his chronological age. The Short Sensory Profile showed some difficulty with taste and smell sensitivity. Long-term observation over 6 years in a patient with early treated argininaemia shows promising neurodevelopmental results.


Assuntos
Hiperargininemia/dietoterapia , Hiperargininemia/diagnóstico , Arginase/genética , Criança , Comportamento Infantil , Desenvolvimento Infantil , Dieta com Restrição de Proteínas , Diagnóstico Precoce , Humanos , Hiperargininemia/fisiopatologia , Recém-Nascido , Masculino , Mutação , Triagem Neonatal
7.
J Inherit Metab Dis ; 32 Suppl 1: S53-7, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19308670

RESUMO

Deficiency of lysosomal α-L-iduronidase results in systemic accumulation of glycosaminoglycans (GAGs). Cardiac lesions due to accumulation of GAGs include hypertrophic cardiomyopathy, valvular insufficiency/stenosis, and coronary artery stenosis due to intimal proliferation. Cardiac dysfunction is one of the most common causes of death in patients with mucopolysaccharidosis type I (MPS I). Enzyme replacement therapy (ERT) with laronidase has shown clear effects in reduction of hepatomegaly and it has been unclear whether ERT could improve or prevent the cardiac lesions. Postmortem findings in a 3 1/2-year-old boy diagnosed with MPS I at age 2 years are described. He received ERT with laronidase at 100 U/kg/week for one year. He suddenly developed cardiorespiratory failure and died the next day after C2-3 spinal surgery for instability. Postmortem examination showed hypertrophic cardiomyopathy, severe aortic valve and mitral valve thickening with shortened chordae, and endocardial fibroelastosis. Histology of the cardiac tissue revealed increased perivascular and interstitial connective tissue in the myocardium and intimal thickening causing stenosis in the cardiac vessels. Electron-microscopic (EM) studies of the thickened endocardium revealed numerous histiocytes with enlarged lysosomes. EM examination of the liver and the cardiac muscle revealed no accumulation of GAGs. ERT with laronidase showed clear effects in removing GAGs from the liver and the cardiac muscle. However, it did not show a clear effect on the thickened endocardium, myocardial perivascular and interstitial connective tissue or intimal thickening in the epicardial vessels.


Assuntos
Terapia de Reposição de Enzimas , Iduronidase/uso terapêutico , Mucopolissacaridose I/tratamento farmacológico , Mucopolissacaridose I/patologia , Autopsia , Pré-Escolar , Endocárdio/metabolismo , Endocárdio/patologia , Glicosaminoglicanos/metabolismo , Insuficiência Cardíaca/etiologia , Humanos , Masculino , Mucopolissacaridose I/complicações , Miocárdio/metabolismo , Miocárdio/patologia , Complicações Pós-Operatórias/etiologia
8.
J Inherit Metab Dis ; 27(2): 145-55, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15159645

RESUMO

Women with phenylketonuria (PKU) must follow a strict low-phenylalanine diet during pregnancy in order to protect the fetus from the deleterious effects of high maternal blood phenylalanine. The Resource Mothers Study of Maternal PKU was undertaken to determine whether a home visitation programme was effective in helping women with PKU attain blood phenylalanine control earlier during pregnancy. Resource Mothers were trained to provide social support and practical assistance to women with PKU during pregnancy. Eight metabolic clinics in the United States participated in the study. Women with PKU who were planning pregnancy or already pregnant were enrolled in the study and were treated with a low-phenylalanine diet aimed at controlling blood phenylalanine to 120-360 micromol/L. They were randomly assigned to receive the services of a Resource Mother (RM group) or to a control group. Fifty women were enrolled, and accounted for 44 pregnancies which resulted in 28 live births, and 6 spontaneous abortions. Ten women are currently pregnant and another 6 have not become pregnant. Fifty-six percent of enrolled women began the diet prior to becoming pregnant. Fifty-three percent of women in the Resource Mother group were in metabolic control by 10 weeks gestation as compared to 39% in the control group. In addition, women who began diet after pregnancy and had a Resource Mother attained metabolic control earlier (mean gestational age of 22.4 weeks in the RM group vs 29.8 weeks in the control group). There was no difference in birth measurement z -scores of offspring born to women in the RM group compared to controls. All but 4 women rated themselves as feeling worse about the diet at the end of pregnancy than at the beginning, and few women in either group remained on diet after delivery.


Assuntos
Doenças Fetais/prevenção & controle , Grupo Associado , Fenilcetonúrias/dietoterapia , Complicações na Gravidez/dietoterapia , Cuidado Pré-Natal/organização & administração , Feminino , Idade Gestacional , Humanos , Cooperação do Paciente , Fenilalanina/sangue , Fenilcetonúrias/metabolismo , Fenilcetonúrias/psicologia , Gravidez , Complicações na Gravidez/metabolismo , Complicações na Gravidez/psicologia , Resultado da Gravidez , Avaliação de Programas e Projetos de Saúde , Apoio Social
9.
J Inherit Metab Dis ; 26(5): 481-8, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-14518828

RESUMO

Mitochondrial DNA (mtDNA) depletion refers to a quantitative defect in mtDNA and is heterogeneous with regard to causal genotypes and the associated clinical phenotypes. We report two unrelated infants with mtDNA depletion. A diagnosis of methylmalonic aciduria was initially raised in both on the basis of high urine methylmalonic acid and related organic acids and elevated propionylcarnitine and methylmalonylcarnitine. Carboxylase assay with skin fibroblasts revealed low propionyl-CoA and 3-methylcrotonyl-CoA carboxylase and normal pyruvate carboxylase activities. Quantitative Southern blot analysis of mitochondrial and nuclear DNA with muscle tissues revealed the patients' mtDNA to be depleted to 24% and 39% of normal controls. Our two patients showed multiple mitochondrial dysfunction including respiratory chain defects and deficiencies in the two nuclear DNA encoded carboxylases resulting in abnormal urine organic acids. To our knowledge, there is no obvious connection between the defective pathways other than their mitochondrial locations. These two cases may represent a new entity of mitochondrial disease that might be due to a defective common mechanism, such as assembly, maintenance and transport, affecting various mitochondrial enzymes and functions. Mitochondrial depletion should be considered in infants with atypical organic aciduria that may resemblemethylmalonicaciduria, propionicacidaemia, or 3-methylcrotonyl-CoA carboxylase deficiency.


Assuntos
Carbono-Carbono Ligases/deficiência , DNA Mitocondrial/genética , Deleção de Genes , Ácido Metilmalônico/urina , Doenças Mitocondriais/genética , Acidemia Propiônica , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Doenças Mitocondriais/metabolismo , Doenças Mitocondriais/patologia , Fenótipo , Síndrome
10.
J Inherit Metab Dis ; 26(4): 339-42, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12971421

RESUMO

A 16-year-old adolescent with mild hyperphenylalaninaemia was given a high-protein 'body building' supplement twice daily, causing headaches, decreased school performance and mild depression. All symptoms disappeared after cessation of the supplement. The phenylalanine hydroxylase mutation H170D/IVS1nt5G>T was found to be responsive to tetrahydrobiopterin with significant decrease in blood phenylalanine concentration and increase in tyrosine blood content. A brain phenylalanine level of 0.5 mmol/L was initially documented, which decreased to the normal carrier range of 0.2 mmol/L within one month of discontinuance of the protein supplement. At present, the patient is on a normal diet without phenylalanine restriction.


Assuntos
Aminoácidos/administração & dosagem , Aminoácidos/efeitos adversos , Biopterinas/análogos & derivados , Depressão/etiologia , Suplementos Nutricionais , Cefaleia/etiologia , Fenilcetonúrias/complicações , Adolescente , Biopterinas/administração & dosagem , Depressão/induzido quimicamente , Relação Dose-Resposta a Droga , Cefaleia/induzido quimicamente , Humanos , Masculino , Mutação , Fenilalanina/sangue , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Somatotipos
11.
J Inherit Metab Dis ; 25(1): 56-64, 2002 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11999981

RESUMO

Blood lipid studies are reported in 25 adults and 2 adolescents with PKU who had been on phenylalanine-restricted diets for a mean period of 22.6 years (range 7-39 years). Measurements included plasma concentrations of phenylalanine, cholesterol, lipoproteins, triglycerides and fatty acid profiles, including the analysis of seven fatty acids in plasma and red blood cells. Lipid screening identified 7 subjects with significantly elevated cholesterol/HDL ratios ranging from 5.6 to 10.3. Triglyceridaemia was documented in 5 of these 7, with concentrations ranging between 0.24 and 4.5 mmol/L (219-402 mg/dl) with a mean of 3.5 mmol/L (310 mg/dl). The fatty acid analyses demonstrated slight but statistically significant reductions in the concentrations of long-chain polyunsaturated fatty acids (LCPUFA), including plasma docosahexaenoic (DHA) and arachidonic acid (AA), and red blood cell DHA concentrations. The pattern resembles that reported previously in children, but alterations in the mean levels are less severe. In six of the adult patients plasma DHA or AA concentrations were less than 50% of controls. Since DHA and AA have important physiological roles, including brain and retinal function, it is recommended that blood lipid concentrations be monitored in all patients with PKU, including adults, and that DHA and AA supplementation be provided, particularly in those patients in whom the blood concentrations of these substances are reduced significantly.


Assuntos
Ácido Araquidônico/sangue , Ácidos Docosa-Hexaenoicos/sangue , Ácidos Graxos Insaturados/sangue , Fenilalanina/sangue , Fenilcetonúrias/sangue , Adolescente , Adulto , Criança , Colesterol/sangue , Humanos , Lipídeos , Pessoa de Meia-Idade , Fenilcetonúrias/tratamento farmacológico
12.
Sex Transm Dis ; 27(4): 188-92, 2000 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10782739

RESUMO

BACKGROUND: The recent syphilis epidemic in Louisiana occurred predominantly among disadvantaged African Americans who may distrust public health agencies and prevention efforts. OBJECTIVES: To determine community perceptions regarding trust and use of public health clinics, to assess whether race of provider is important to persons at risk for syphilis, and to assess the willingness of persons to participate in syphilis screening, treatment, and antibiotic prophylaxis. STUDY DESIGN: Qualitative interviews were conducted with 18 community leaders and 38 community members who were at risk for syphilis. Quantitative surveys were completed by persons with primary or secondary syphilis (n = 92), their sexual contacts (n = 56), and with neighborhood controls (n = 143). Three possible programs for syphilis screening and antibiotic prophylaxis were proposed (1) bar setting; (2) home setting, and (3) mobile health-van setting in high-risk communities. RESULTS: In qualitative interviews, community leaders and community members reported a high degree of trust in the public sexually transmitted disease clinic. A majority of respondents felt that race was not a factor in choosing healthcare providers. Respondents favored the provision of services in a mobile health van over in a bar or in their homes. In quantitative interviews, more than 80% of community members surveyed reported that they would go to a mobile health van for syphilis testing. Nearly two thirds of respondents reported that they would be willing to take oral prophylaxis for syphilis, and more than half of respondents reported that they would accept an injection. CONCLUSIONS: Community members trust the public sexually transmitted disease (STD) clinic, are generally not concerned with the race of healthcare providers, and are supportive of community-based STD screening, treatment, and antibiotic prophylaxis provided from a mobile clinic.


Assuntos
Antibioticoprofilaxia , Serviços de Saúde Comunitária , Acessibilidade aos Serviços de Saúde , Programas de Rastreamento , Satisfação do Paciente , Sífilis/prevenção & controle , Adolescente , Adulto , Negro ou Afro-Americano , Feminino , Humanos , Entrevistas como Assunto , Louisiana , Masculino , Programas de Rastreamento/psicologia , Pessoa de Meia-Idade , Unidades Móveis de Saúde , Inquéritos e Questionários , População Branca
13.
J Inherit Metab Dis ; 23(1): 7-14, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10682303

RESUMO

Diagnosis by newborn screening and the implementation of a phenylalanine-restricted diet have resulted in normal neurological development in approximately 10,000 persons with phenylketonuria (PKU) in the United States. While it is accepted that a phenylalanine-restricted diet is necessary in childhood, the recommended concentration of phenylalanine in the blood varies. Clinicians now must make recommendations for adults with PKU who probably tolerate higher levels of phenylalanine than children. This factor, quality of life issues, the expense of the diet, and varying genetic and socioeconomic backgrounds, make the choice of dietary recommendations difficult. Molecular analysis of the mutations in PKU has provided insight but has not resulted in clear recommendations for phenylalanine concentration in the blood. Magnetic resonance imaging has provided the recognition that white-matter changes are present in PKU. However, owing to poor correlation of white-matter changes with clinical factors, analysis of white-matter changes has not proved useful. We hypothesize that measurement of brain phenylalanine directly will aid in clinical decision making. Twenty-one subjects with PKU had blood and brain phenylalanine measured simultaneously. Fifteen were randomly selected, 2 were examined for clinical reasons and 4 exceptional patients were chosen because they had maintained high IQs, despite having high historic blood concentrations and having been off the diet for at least 10 years. The correlation of blood and brain phenylalanine is in general poor. However, the four exceptional patients all had relatively low concentrations of phenylalanine in their brains compared to their blood. We suggest that their good clinical status, despite high historic blood levels, is due to their comparatively low brain levels of phenylalanine. We further suggest that measurement of brain phenylalanine concentration is useful in the management of PKU patients.


Assuntos
Química Encefálica , Fenilalanina/análise , Fenilcetonúrias/terapia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Fenilalanina/sangue , Fenilcetonúrias/metabolismo
14.
Mol Genet Metab ; 67(2): 148-55, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10356314

RESUMO

The potential benefits to society of treating late-diagnosed mentally retarded persons with phenylketonuria were investigated. In order to ascertain the effects of late dietary intervention, the charts of 124 adults with PKU seen in the metabolic service at the Childrens Hospital of Los Angeles were reviewed. Fifty-nine were diagnosed later than 3 months of age and were over the age of 18 years. They were followed up with medical, psychological, and nutritional assessments. Genotyping was also performed. Twenty-eight have remained on a phenylalanine-restricted diet during the intervening years. All but 3 of the 28 late-diagnosed PKU persons who remained on a restricted diet showed significant intellectual improvement. Seven are able to attend college, 9 are employed, and 12 are attending workshops and/or day care programs. The result of treatment with the phenylalanine-restricted diet was that these individuals could participate in society and were able to arrest the neurodegenerative course characteristic of persons with mutations classified as severe in the phenylalanine hydroxylase gene. We conclude that society could benefit substantially by providing a phenylalanine-restricted diet for late-diagnosed mentally retarded persons with phenylketonuria. Eighteen of 28 such persons who otherwise would have required residential care are living independently.


Assuntos
Dieta com Restrição de Proteínas , Fenilalanina/administração & dosagem , Fenilalanina/metabolismo , Fenilcetonúrias/dietoterapia , Adulto , Feminino , Seguimentos , Humanos , Deficiência Intelectual/dietoterapia , Deficiência Intelectual/enzimologia , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Fenilalanina/sangue , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/enzimologia , Fenilcetonúrias/genética , Fatores de Tempo , Resultado do Tratamento
15.
Sex Transm Dis ; 26(2): 108-14, 1999 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10029986

RESUMO

BACKGROUND AND OBJECTIVES: Differences in sociodemographic attributes and healthcare access may explain differences in regional sexually transmitted disease rates but don't fully explain why syphilis persists disproportionately in certain populations. GOAL OF THIS STUDY: To understand the behavioral epidemiology of syphilis, we conducted a social network analysis of persons with syphilis and their contacts and developed and applied a definition of core transmitters. STUDY DESIGN: We interviewed 10 index persons with primary or secondary untreated syphilis and 80 of their named sexual and social contacts. RESULTS: Fourteen (16%) of 90 interviewed persons met the definition of core transmitters, 9 of whom had past or current syphilis. The other interviewed persons had only moderately risky behaviors. Seventy-eight (42%) of the network sexual contacts were connected directly or indirectly to a core transmitter. CONCLUSION: This analysis suggests that syphilis transmission is maintained by a community with a small percentage of high-risk persons centrally placed amidst a larger group with moderately risky behavior.


Assuntos
Busca de Comunicante , Parceiros Sexuais , Sífilis/transmissão , Adulto , Feminino , Humanos , Louisiana/epidemiologia , Masculino , Assunção de Riscos , Comportamento Sexual , Sífilis/epidemiologia
18.
Hosp Top ; 72(1): 14-8, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-10136310

RESUMO

One of hospital administrators' many challenges is the recruitment of nursing staff. This article explores eight hospitals' recruitment strategies as well as these methods' direct and indirect costs. It also provides suggestions for administrators on how to improve their recruitment procedures.


Assuntos
Custos Hospitalares/estatística & dados numéricos , Recursos Humanos de Enfermagem Hospitalar/provisão & distribuição , Seleção de Pessoal/economia , Publicidade/métodos , Orçamentos , Número de Leitos em Hospital , Entrevistas como Assunto , Seleção de Pessoal/métodos , Salários e Benefícios , População Suburbana , Estados Unidos , População Urbana
19.
Addict Behav ; 16(6): 517-27, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1801575

RESUMO

Students from six colleges and universities in five states in the U.S. (New York, New Jersey, Oklahoma, Texas, and Nevada) were surveyed concerning their gambling behavior and the rate of pathological gambling. Type of gambling varied by state, with students in the northeast and Nevada gambling more than students in Oklahoma and Texas. Over 90% of males and 82% of females had gambled. One third of the males and 15% of females gambled once a week or more. Rates of pathological gambling ranged from 8% in New York to 4% in Nevada. The incidence of pathological gambling was high among males, Hispanics, Asians, and Italian-Americans (compared with among other whites), students with non-traffic arrests, those with parents who have gambling problems, and those who abuse alcohol and other drugs. Pathological gambling was only weakly correlated with age, religion, lower grade point average in school, overeating, living in neighborhoods that are "poorer than most," family income, and parental drug use. It was not correlated with academic year in college, marital status, parental occupation, parental alcohol, and bulimic behavior. The implications of the findings for further research and social policy are discussed.


Assuntos
Jogo de Azar/psicologia , Logro , Adolescente , Adulto , Fatores Etários , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Grupos Minoritários , Religião , Fatores Sexuais , Transtornos Relacionados ao Uso de Substâncias , Estados Unidos/epidemiologia
20.
Am J Obstet Gynecol ; 159(4): 843-8, 1988 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-3177533

RESUMO

Radiolabeled monoclonal antibodies may be useful for radioimmunotherapy of gynecologic tumors. Iodine 131-labeled F(ab')2 fragments of a monoclonal antibody, OC 125, with specificity for ovarian carcinoma, were used to study the distribution and pharmacokinetics of this antibody in patients with gynecologic tumors. The radiolabeled antibody was injected intravenously or intraperitoneally into 10 patients suspected of having ovarian cancer. Blood and urine samples were used for pharmacokinetic studies, and biopsy specimens were examined for the uptake of antibody. The serum half-life of the labeled antibody was 30 hours after intravenous administration, with 20% of the injected dose per liter detected at 24 hours. After intraperitoneal injection, the appearance of antibody in serum was slow, with a maximum level of 1.4% of the injected dose per liter at 24 hours. Urinary excretion of the radiolabeled antibody was similar for intravenous and intraperitoneal administration, with approximately 50% of the injected dose excreted after 48 hours. Intraperitoneal administration of the radiolabeled antibody resulted in a higher uptake of antibody in the tumor and a lower uptake of antibody in normal tissues. On the basis of this limited study, intraperitoneal administration of radiolabeled antibody is preferred over intravenous administration for radioimmunotherapy of ovarian cancer.


Assuntos
Anticorpos Monoclonais/administração & dosagem , Neoplasias Ovarianas/imunologia , Adulto , Idoso , Antígenos Glicosídicos Associados a Tumores/análise , Feminino , Humanos , Imuno-Histoquímica , Injeções Intraperitoneais , Injeções Intravenosas , Radioisótopos do Iodo , Cinética , Pessoa de Meia-Idade , Neoplasias Ovarianas/terapia , Radioimunoensaio , Distribuição Tecidual
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