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1.
PLoS One ; 18(9): e0272890, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37682938

RESUMO

Individuals with dual sensory loss (DSL) appear to have limited ability to compensate for their visual impairment with residual hearing, or for their hearing impairment with residual vision, resulting in challenges in various areas of life. The aim of this qualitative study was to explore the diverse experiences facing individuals with DSL as well as to determine how they experience sensory compensation. Semi-structured interviews were carried out in twenty adults with DSL (13 females and 7 males, mean age 47 years). The causes of DSL severity varied amongst participants. Sensory compensation and experiences in regards to access to information, mobility, communication and fatigue were discussed. Interviews were audio recorded and transcribed verbatim. Framework analysis was used to summarize and interpret the data. In relation to access to information, our results show that, despite various challenges, the use of assistive technology such as voice command functions, enabled participants to operate effectively. Regarding mobility, most participants were capable of finding their way in familiar environments. However, if the setting was unfamiliar, assistance from others or reliance on navigation applications was necessary. Participants experienced little issues with having conversations in quiet settings, however, crowded settings were considered very difficult. The final results showed that most participants suffered from fatigue. Carefully considering which daily activities were feasible and having a daily routine helped to cope with fatigue. This study revealed the experiences of individuals with DSL in important areas of life. The results suggest that, even though many challenges are experienced, individuals with DSL are resourceful in finding compensation strategies. However, capturing participants' sensory compensation experiences was challenging.


Assuntos
Comunicação , Fadiga , Adulto , Feminino , Masculino , Humanos , Pessoa de Meia-Idade , Pesquisa Qualitativa , Cabeça , Recursos em Saúde
2.
Neth J Med ; 76(2): 84-86, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29515009

RESUMO

We present a 60-year-old woman with non-pulmonary sarcoidosis manifesting as acute pancreatitis, possibly due to hypercalcaemia. Pancreatitis in sarcoidosis is rare, particularly as a presenting symptom. This case demonstrates that sarcoidosis should be included in the differential diagnosis of pancreatitis with hypercalcaemia, even without pulmonary signs of sarcoidosis.


Assuntos
Cavidade Abdominal , Hipercalcemia/etiologia , Pancreatite/etiologia , Sarcoidose/complicações , Sarcoidose/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Sarcoidose/patologia
3.
J Am Med Dir Assoc ; 14(2): 147.e7-12, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23206725

RESUMO

OBJECTIVES: To study differences in functional status at admission in acutely hospitalized elderly patients with urinary incontinence, a catheter, or without a catheter or incontinence (controls) and to determine whether incontinence or a catheter are independent risk factors for death, institutionalization, or functional decline. DESIGN: Prospective cohort study conducted between 2006 and 2008 with a 12-month follow-up. SETTING: Eleven medical wards of 2 university teaching hospitals and 1 teaching hospital in The Netherlands. PARTICIPANTS: Participants included 639 patients who were 65 years and older, acutely hospitalized for more than 48 hours. MEASUREMENTS: Baseline characteristics, functional status, presence of urinary incontinence or catheter, length of hospital stay, mortality, institutionalization, and functional decline during admission and 3 and 12 months after admission were collected. Regression analyses were done to study a possible relationship between incontinence, catheter use, and adverse outcomes at 3 and 12 months. RESULTS: Of all patients, 20.7% presented with incontinence, 23.3% presented with a catheter, and 56.0% were controls. Patients with a catheter scored worst on all baseline characteristics. A catheter was an independent risk factor for mortality at 3 months (odds ratio [OR] = 1.73, 95% confidence interval [CI] 1.10-2.70), for institutionalization at 12 months (OR = 4.03, 95% CI 1.67-9.75), and for functional decline at 3 (OR = 2.17, 95% CI 1.32-3.54) and 12 months (OR = 3.37, 95% CI 1.81-6.25). Incontinence was an independent risk factor for functional decline at 3 months (OR = 1.84, 95% CI 1.11-3.04). CONCLUSION: There is an association between presence of a catheter, urinary incontinence, and development of adverse outcomes in hospitalized older patients.


Assuntos
Cateteres de Demora/efeitos adversos , Avaliação Geriátrica , Institucionalização/estatística & dados numéricos , Mortalidade/tendências , Cateteres Urinários/efeitos adversos , Incontinência Urinária/mortalidade , Incontinência Urinária/fisiopatologia , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Seguimentos , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Países Baixos/epidemiologia , Estudos Prospectivos , Fatores de Risco
4.
Patient Educ Couns ; 72(1): 146-54, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18455354

RESUMO

OBJECTIVE: Ethnic differences in outcomes of outpatient diabetic care and the role of self-management behavior and its determinants in explaining observed differences. METHODS: Face-to-face interviews were held with 102 Turkish or Moroccan, and 102 native Dutch diabetic patients to measure self-management behavior and determinants of self-management (as derived from the Attitudes-Social support self-Efficacy model, and Personal Models and Barriers). A medical record review was conducted to measure ethnic differences in outcomes of diabetes care. Data were analyzed using multiple linear regression. RESULTS: Outcomes differed significantly with ethnic minorities having higher levels of lipids (risk difference=RD=0.7%; CI: 0.3-1.2) and HbA1c (RD=0.9%; CI: 0.4-1.4) than native Dutch patients. Differences in self-management could not explain the ethnic differences in outcomes. Self-efficacy explained 18% of the ethnic differences in HbA1c. Beliefs about seriousness of diabetes and social support regarding diabetes management together explained 47% of the ethnic differences in lipids. CONCLUSION: This study provides evidence for ethnic differences in outcomes of diabetes care. Self-efficacy is the most important determinant in explaining the differences in HbA1c. PRACTICE IMPLICATIONS: For diabetes practice this suggests that strengthening patients' self-efficacy may improve the control of HbA1c and may result in a decrease of ethnic differences. The relationship between behavioral determinants like seriousness and social support and outcomes of diabetes care was differential by ethnic group, implying that caution is required when applying behavioral models to different ethnic groups.


Assuntos
Atitude Frente a Saúde/etnologia , Diabetes Mellitus Tipo 1/etnologia , Diabetes Mellitus Tipo 2/etnologia , Comportamentos Relacionados com a Saúde/etnologia , Autocuidado/psicologia , Autoeficácia , Índice de Massa Corporal , Comparação Transcultural , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/prevenção & controle , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/prevenção & controle , Emigrantes e Imigrantes/educação , Emigrantes e Imigrantes/psicologia , Feminino , Hemoglobinas Glicadas , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Hiperlipidemias/etiologia , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Modelos Psicológicos , Marrocos/etnologia , Países Baixos , Características de Residência , Autocuidado/métodos , Apoio Social , Inquéritos e Questionários , Resultado do Tratamento , Turquia/etnologia
5.
Eur Urol ; 54(6): 1270-86, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18423974

RESUMO

OBJECTIVE: Antibiotic prophylaxis is used to minimize infectious complications resulting from interventions. Side-effects and development of microbial resistance patterns are risks of the use of antibiotics. Therefore, the use should be well considered and based on high levels of evidence. In this review, all available evidence on the use of antibiotic prophylaxis in urology is gathered, assessed, and presented in order to make choices in the use of antibiotic prophylaxis on the best evidence currently available. METHODS: A systematic literature review was conducted, searching Medline, Embase (1980-2006), the Cochrane Library, and reference lists for relevant studies. All selected articles were reviewed independently by two, and, in case of discordance, three, reviewers. RESULTS: Only the transurethral resection of prostate (TURP) and prostate biopsy are well studied and have a high and moderate to high level of evidence in favour of using antibiotic prophylaxis. Other urologic interventions are not well studied. The moderate to low evidence suggests no need for antibiotic prophylaxis in cystoscopy, urodynamic investigation, transurethral resection of bladder tumor, and extracorporeal shock-wave lithotripsy, whereas for therapeutic ureterorenoscopy and percutaneous nephrolithotomy, the low evidence favours the use of antibiotic prophylaxis. Urologic open and laparoscopic interventions were classified according to surgical wound classification, since no studies were identified. Antibiotic prophylaxis is not advised in clean surgery, but is advised in clean-contaminated and prosthetic surgery. CONCLUSIONS: Except for the TURP and prostate biopsy, there is a lack of well-performed studies investigating the need for antibiotic prophylaxis in urologic interventions.


Assuntos
Antibioticoprofilaxia , Procedimentos Cirúrgicos Urológicos , Humanos
6.
Eur Heart J ; 26(7): 650-61, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15728645

RESUMO

AIMS: Patients with diabetes have an unfavourable prognosis after an acute myocardial infarction. In the first DIGAMI study, an insulin-based glucose management improved survival. In DIGAMI 2, three treatment strategies were compared: group 1, acute insulin-glucose infusion followed by insulin-based long-term glucose control; group 2, insulin-glucose infusion followed by standard glucose control; and group 3, routine metabolic management according to local practice. METHODS AND RESULTS: DIGAMI 2 recruited 1253 patients (mean age 68 years; 67% males) with type 2 diabetes and suspected acute myocardial infarction randomly assigned to groups 1 (n=474), 2 (n=473), and 3 (n=306). The primary endpoint was all-cause mortality between groups 1 and 2, and a difference was hypothesized as the primary objective. The secondary objective was to compare total mortality between groups 2 and 3, whereas morbidity differences served as tertiary objectives. The median study duration was 2.1 (interquartile range 1.03-3.00) years. At randomization, HbA1c was 7.2, 7.3, and 7.3% in groups 1, 2, and 3, respectively, whereas blood glucose was 12.8, 12.5, and 12.9 mmol/L, respectively. Blood glucose was significantly reduced after 24 h in all groups, more in groups 1 and 2 (9.1 and 9.1 mmol/L) receiving insulin-glucose infusion than in group 3 (10.0 mmol/L). Long-term glucose-lowering treatment differed between groups with multidose insulin (> or =3 doses/day) given to 15 and 13% of patients in groups 2 and 3, respectively compared with 42% in group 1 at hospital discharge. By the end of follow-up, HbA1c did not differ significantly among groups 1-3 ( approximately 6.8%). The corresponding values for fasting blood glucose were 8.0, 8.3, and 8.6 mmol/L. Hence, the target fasting blood glucose for patients in group 1 of 5-7 mmol/L was never reached. The study mortality (groups 1-3 combined) was 18.4%. Mortality between groups 1 (23.4%) and 2 (22.6%; primary endpoint) did not differ significantly (HR 1.03; 95% CI 0.79-1.34; P=0.831), nor did mortality between groups 2 (22.6%) and 3 (19.3%; secondary endpoint) (HR 1.23; CI 0.89-1.69; P=0.203). There were no significant differences in morbidity expressed as non-fatal reinfarctions and strokes among the three groups. CONCLUSION: DIGAMI 2 did not support the fact that an acutely introduced, long-term insulin treatment improves survival in type 2 diabetic patients following myocardial infarction when compared with a conventional management at similar levels of glucose control or that insulin-based treatment lowers the number of non-fatal myocardial reinfarctions and strokes. However, an epidemiological analysis confirms that the glucose level is a strong, independent predictor of long-term mortality in this patient category, underlining that glucose control seems to be an important part of their management.


Assuntos
Glicemia/metabolismo , Diabetes Mellitus Tipo 2/tratamento farmacológico , Angiopatias Diabéticas/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Infarto do Miocárdio/tratamento farmacológico , Idoso , Diabetes Mellitus Tipo 2/mortalidade , Angiopatias Diabéticas/mortalidade , Feminino , Seguimentos , Hospitalização , Humanos , Masculino , Infarto do Miocárdio/mortalidade , Revascularização Miocárdica , Estudos Prospectivos
7.
Neth J Med ; 59(1): 16-22, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11438195

RESUMO

BACKGROUND: In individuals at high cardiovascular risk, such as patients with hyperlipidaemia, low dietary fat intake is used to reduce this risk. The aim of the present study was to identify determinants of (saturated) fat intake in hyperlipidaemic patients. METHODS: Cross sectional study in a lipid clinic of a tertiary referral centre. A total of 1169 patients (714 males and 455 females) with hyperlipidemia were studied. Food frequency questionnaires were present of 1026 patients. In 615 patients a detailed diet analysis was performed. The main outcomes measures were determinants of fat intake, indicated by a regression coefficient (beta-coefficient). RESULTS: The following variables were independently related to fat intake: present smoking (beta-coefficient 3.7), male gender ((beta 1.6), familial hypercholesterolemia (beta -1.6), alcohol (beta 0.6 per glass of alcohol), body mass index (beta 0.6). No interaction between gender and smoking or between gender and alcohol intake was observed in relation to fat intake. The percentage of energy from fats were higher in males than in females, 34.2+/-8.3% and 31.7+/-8.3%, respectively (P<0.001). The higher total and saturated fat intake in males is due to a larger consumption of cheese, meat products, bread and potato products. Women had a higher relative intake of carbohydrate 48.5+/-8.7% versus 46.5+/-8.8% in males (P<0.05), due to a relatively higher intake of fruit, milk products and pastry and biscuits. CONCLUSIONS: A specific gender-oriented approach may improve the results of dietary counselling of hyperlipidaemic patients.


Assuntos
Gorduras na Dieta/administração & dosagem , Hiperlipidemias/prevenção & controle , Consumo de Bebidas Alcoólicas , Índice de Massa Corporal , Estudos Transversais , Feminino , Humanos , Hiperlipidemias/etiologia , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Fumar , Estatística como Assunto
8.
Biochim Biophys Acta ; 1526(3): 277-85, 2001 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-11410337

RESUMO

cis-Urocanic acid (cis-UCA), formed from trans-urocanic acid (trans-UCA) by photoisomerization, has been shown to mimic suppressive effects of UV on the immune system. It is our hypothesis that UCA oxidation products in the skin play a role in the process of immunosuppression. Recently, both UCA isomers were found to be good hydroxyl radical scavengers and in this context we investigated the formation of products resulting from the interaction of hydroxyl radicals with UCA. Hydroxyl radicals were generated by (1) UV/H(2)O(2) (photooxidation), (2) ferrous ions/H(2)O(2) (Fenton oxidation) and (3) cupric ions/ascorbic acid. Oxidation products were identified by spectrometric methods and assessed by reversed-phase HPLC analysis. The photooxidation of UCA was induced by UV-B and UV-C, but not by UV-A radiation. Photooxidation and Fenton oxidation of trans-UCA, as well as of cis-UCA yielded comparable chromatographic patterns of UCA oxidation products. Several of the formed products were identified. The formation of three identified imidazoles was shown in UV-B exposed corneal layer samples, derived from human skin.


Assuntos
Sequestradores de Radicais Livres/química , Radical Hidroxila/síntese química , Ácido Urocânico/química , Soluções Tampão , Cromatografia Líquida de Alta Pressão , Ácido Edético , Humanos , Peróxido de Hidrogênio , Imidazóis/análise , Ferro , Oxirredução , Fotoquímica , Pele/química , Pele/efeitos da radiação , Estereoisomerismo , Raios Ultravioleta , Ácido Urocânico/análise , Ácido Urocânico/efeitos da radiação
9.
Carcinogenesis ; 22(5): 805-11, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11323401

RESUMO

While metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP), the most abundant food-derived heterocyclic amine and carcinogen, has been studied extensively in several species, transport of this compound and its metabolites has not been defined yet. Therefore we studied metabolism and disposition of PhIP in Wistar and Mrp2-deficient TR(-) rats to determine the role of Mrp2 in the defence against this compound. In the first 2 h after intravenous dosing, total excretion of PhIP and its metabolites in bile was > 4-fold reduced in TR(-) rats compared with Wistar rats, while excretion in the urine of the TR(-) rat was 1.8-fold higher. This difference was the result of an almost complete absence of secretion of glucuronidated metabolites but also a reduced level of secretion of unchanged PhIP into bile of the TR(-) rat. Direct intestinal excretion of unmetabolized PhIP was 3-fold higher in Wistar versus TR(-) rats. As a consequence, PhIP tissue levels in the liver were 1.7-fold higher in TR(-) rats, and tissue binding of PhIP, determined after ethanol extraction, was elevated by a similar magnitude. Mrp2-mediated transport of the parent compound PhIP is glutathione (GSH)-dependent, because GSH depletion by L-buthionine-[S,R]-sulfoximine (BSO) treatment in Wistar rats reduced intestinal secretion to the same level as that in TR(-) rats. TR(-) rats produced less glucuronides and 4'-OH-PhIP in the 2 h following PhIP administration. We conclude that Mrp2 protects against the carcinogen PhIP by biliary excretion of the parent compound and all major phase-II metabolites, but, more importantly, also by direct extrusion of the parent compound from the gut mucosa.


Assuntos
Sistema Biliar/metabolismo , Carcinógenos/metabolismo , Imidazóis/metabolismo , Mucosa Intestinal/metabolismo , Proteínas Mitocondriais , Proteínas Ribossômicas/fisiologia , Proteínas de Saccharomyces cerevisiae , Animais , Carcinógenos/administração & dosagem , Carcinógenos/farmacocinética , Feminino , Imidazóis/administração & dosagem , Imidazóis/farmacocinética , Injeções Intravenosas , Ratos , Ratos Wistar
10.
Int J Radiat Biol ; 77(3): 357-63, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11258850

RESUMO

PURPOSE: To investigate the possible role of cell cycle arrest in the radiosensitization of mouse spermatogonial stem cells due to small conditioning X-ray exposures. MATERIALS AND METHODS: A 24 h fractionation interval between conditioning (1 Gy) and challenging (8 or 9 Gy) exposures was used. Two approaches were followed: the first in the Swiss random-bred wild-type mouse of the radiation-induced cell cycle arrest-evading agents 3-aminobenzamide (3-AB) and caffeine; and, second, using the C57BL/6 mouse of different p53 status. As biological parameter stem cell survival was analysed by the repopulation index (RI) method and chromosomal translocations were recorded using spermatocyte analysis at appropriate posttreatment periods. RESULTS: In the Swiss wild-type mouse, the application of 3-AB or caffeine significantly suppressed the sensitization of stem cells towards killing or translocation induction. In the C57BL/6 mouse, somewhat more variability in response was observed but no significant differences in sensitization between the p53 +/+, +/- or -/- mouse were recorded, suggesting no involvement of p53 in this process. CONCLUSIONS: The results indicate that p53-independent cell cycle regulation plays an important role in the radiosensitization of mouse spermatogonial stem cells.


Assuntos
Ciclo Celular/efeitos da radiação , Tolerância a Radiação/efeitos da radiação , Espermatogônias/efeitos da radiação , Células-Tronco/efeitos da radiação , Animais , Benzamidas/farmacologia , Cafeína/farmacologia , Ciclo Celular/efeitos dos fármacos , Ciclo Celular/fisiologia , Fracionamento da Dose de Radiação , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Inibidores de Fosfodiesterase/farmacologia , Tolerância a Radiação/efeitos dos fármacos , Radiossensibilizantes/farmacologia , Espermatogônias/citologia , Espermatogônias/efeitos dos fármacos , Células-Tronco/citologia , Células-Tronco/efeitos dos fármacos , Proteína Supressora de Tumor p53/deficiência , Proteína Supressora de Tumor p53/genética
11.
J Clin Endocrinol Metab ; 86(2): 482-4, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11157995

RESUMO

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by an inborn defect in the 21-hydroxylase gene (CYP21), leading to virilization of female patients and causing ambiguous genitals in the majority of female infants. Adult women may suffer from loss of libido, irregular or absent cycles, and reduced fertility, despite intensive medical treatment. These problems have stimulated the search for alternative treatment modalities. We present an adult female patient, who was difficult to treat medically and whose clinical situation markedly improved after laparoscopic bilateral adrenalectomy. The procedure was well tolerated and without side effects. Postoperatively the elevated serum progesterone and 17-hydroxyprogesterone levels, as well as the undetectable LH levels, normalized. The procedure resulted in marked clinical improvement. Within 12 months after surgery she lost 11 kg in weight. This weight loss consisted mainly of adipose tissue. Acne disappeared, and she had a regular 4-week menstrual cycle, with progesterone levels that are compatible with a luteal phase. The introduction of laparoscopic techniques may give an impulse to the application of surgical therapy at a larger scale in patients with 21-hydroxylase deficiency who are difficult to treat with adrenal suppression therapy.


Assuntos
Hiperplasia Suprarrenal Congênita/cirurgia , Adrenalectomia/métodos , Composição Corporal , Fertilidade , 17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/fisiopatologia , Hormônio Adrenocorticotrópico/sangue , Dexametasona/uso terapêutico , Estradiol/sangue , Feminino , Fludrocortisona/uso terapêutico , Humanos , Hidrocortisona/uso terapêutico , Laparoscopia , Ciclo Menstrual/fisiologia , Progesterona/sangue , Fatores de Tempo , Resultado do Tratamento , Redução de Peso
12.
Clin Chem ; 46(12): 1916-22, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11106323

RESUMO

BACKGROUND: Urinary concentrations of thymine, uracil, and their degradation products are useful indicators of deficiencies of enzymes of the pyrimidine degradation pathway. We describe a rapid, specific method to measure these concentrations to detect inborn errors of pyrimidine metabolism. METHODS: We used urine or urine-soaked filter-paper strips as samples and measured thymine, uracil, and their degradation products dihydrothymine, dihydrouracil, N:-carbamyl-ss-aminoisobutyric acid, and N:-carbamyl-ss-alanine. Reversed-phase HPLC was combined with electrospray ionization tandem mass spectrometry, and detection was performed by multiple-reaction monitoring. Stable-isotope-labeled reference compounds were used as internal standards. RESULTS: All pyrimidine degradation products could be measured in one analytical run of 15 min. Detection limits were 0.4-4 micromol/L. The intraassay imprecision (CV) of urine samples with added compounds was 1.3-12% for liquid urines and 1. 0-10% for filter-paper extracts of the urines. The interassay imprecision (CV) was 3-11% (100-200 micromol/L). Recoveries were 89-99% at 100-200 micromol/L and 95-106% at 1 mmol/L in liquid urines, and 93-103% at 100-200 micromol/L and 100-106% at 1 mmol/L in filter-paper samples. Correct identifications of deficiencies of the pyrimidine-degrading enzymes were readily made with urine samples from patients with known defects. CONCLUSIONS: HPLC with electrospray ionization tandem mass spectrometry allows rapid testing for disorders of the pyrimidine degradation pathway, and filter-paper samples allow easy collection, transport, and storage of urine samples.


Assuntos
Pirimidinas/urina , Cromatografia Líquida de Alta Pressão , Humanos , Papel , Pirimidinas/metabolismo , Reprodutibilidade dos Testes , Manejo de Espécimes , Espectrometria de Massas por Ionização por Electrospray , Timina/metabolismo , Timina/urina , Uracila/metabolismo , Uracila/urina
13.
Ned Tijdschr Geneeskd ; 144(37): 1785-9, 2000 Sep 09.
Artigo em Holandês | MEDLINE | ID: mdl-11004953

RESUMO

OBJECTIVE: To inventory the ethnic composition of the patients referred to an internal medicine outpatient clinic of a Dutch academic hospital and to determine to what extent ethnic minorities differ from Dutch patients in terms of referral reasons, taking relevant background characteristics into account. DESIGN: Cross-sectional analysis. METHOD: Data were collected on all new patients referred in 1997 for the first time to the internal medicine outpatient clinic of the Academic Hospital Dijkzigt, Rotterdam, the Netherlands, using the hospital information system (n = 3205). Patients were categorised into ethnic groups based on country of birth or name. Ethnic differences in referral reasons were tested for the 4 largest ethnic groups by means of logistic regression analysis with adjustment for age, sex, mean income of the zipcode area of the patients' residence and type of health insurance. RESULTS: The percentage of ethnic minorities amongst all referred patients was 22% (696/3205). The percentage of ethnic minorities among the patients referred from the catchment area of the outpatient clinic was 48% (209/440). Compared with Dutch patients Turkish patients were referred more often with stomach ache (odds ratio (OR): 4.26) and joint problems (OR: 7.16) as reasons. Moroccans were more often referred with stomach ache (OR: 4.10) and diabetes (OR: 4.51). Ethnic minorities were referred less often with dyslipidemia (Turks: OR: 0.11; Surinamese: OR: 0.17; Moroccans: 0 patients).


Assuntos
Dor Abdominal/etnologia , Artralgia/etnologia , Diabetes Mellitus/etnologia , Hiperlipidemias/etnologia , Medicina Interna/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Feminino , Humanos , Incidência , Masculino , Marrocos/etnologia , Países Baixos/epidemiologia , Vigilância da População , Estudos de Amostragem , Suriname/etnologia , Turquia/etnologia
15.
Clin Chem ; 46(4): 445-52, 2000 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10759467

RESUMO

BACKGROUND: A rapid and specific screening method for patients at risk of inherited disorders of purine and pyrimidine metabolism is desirable because symptoms are varied and nonspecific. The aim of this study was to develop a rapid and specific method for screening with use of liquid urine samples or urine-soaked filter paper strips. METHODS: Reverse-phase HPLC was combined with electrospray ionization (ESI), tandem mass spectrometry (MS/MS), and detection performed by multiple reaction monitoring. Transitions and instrument settings were established for 17 purines or pyrimidines. Stable-isotope-labeled reference compounds were used as internal standards when available. RESULTS: Total analysis time of this method was 15 min, approximately one-third that of conventional HPLC with ultraviolet detection. Recoveries were 96-107% in urine with added analyte, with two exceptions (hypoxanthine, 64%; xanthine, 79%), and 89-110% in urine-soaked filter paper strips, with three exceptions (hypoxanthine, 65%; xanthine, 77%; 5-hydroxymethyluracil, 80%). The expected abnormalities were easily found in samples from patients with purine nucleoside phosphorylase deficiency, ornithine transcarbamylase deficiency, molybdenum cofactor deficiency, adenylosuccinase deficiency, or dihydropyrimidine dehydrogenase deficiency. CONCLUSIONS: HPLC-ESI MS/MS of urine allows rapid screening for disorders of purine and pyrimidine metabolism. The filter paper strips offer the advantage of easy collection, transport, and storage of the urine samples.


Assuntos
Erros Inatos do Metabolismo da Purina-Pirimidina/urina , Cromatografia Líquida de Alta Pressão , Humanos , Espectrometria de Massas , Papel , Nucleosídeos de Purina/metabolismo , Nucleosídeos de Purina/urina , Nucleosídeos de Pirimidina/metabolismo , Nucleosídeos de Pirimidina/urina , Reprodutibilidade dos Testes , Manejo de Espécimes
19.
Adv Exp Med Biol ; 466: 327-37, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10709660

RESUMO

The analysis of circulating free carnitine and acyl-carnitines provides a powerful selective screening tool for genetic defects in mitochondrial fatty acid oxidation and defects in the catabolism of branched chain amino acids. Using electrospray tandem mass spectrometry (ESI/MS/MS) we developed a sensitive quantitative analysis of free carnitine and acyl-carnitines in plasma and/or serum. This method was evaluated by analyzing 250 control samples and 103 samples of patients suffering from twelve different defects in either mitochondrial fatty acid oxidation or the catabolism of branched chain amino acids. The reproducibility of the method was acceptable with a day-to-day coefficient of variation ranging from 6-15% for free carnitine and the different acylcarnitines. Except for one patient with a mild form of short chain acyl CoA dehydrogenase (SCAD) deficiency and a single sample from a patient with a mild form of multiple acyl CoA dehydrogenase (MAD) deficiency all patient samples were clearly abnormal under a wide variety of clinical conditions, illustrating the high sensitivity and specificity of the method.


Assuntos
Acil-CoA Desidrogenases/deficiência , Carnitina O-Palmitoiltransferase/deficiência , Carnitina/análogos & derivados , Erros Inatos do Metabolismo Lipídico/diagnóstico , Biomarcadores/sangue , Calibragem , Carnitina/sangue , Humanos , Erros Inatos do Metabolismo Lipídico/sangue , Erros Inatos do Metabolismo Lipídico/enzimologia , Oxirredução , Sensibilidade e Especificidade , Espectrometria de Massa de Íon Secundário/métodos
20.
J Chromatogr B Biomed Sci Appl ; 713(2): 281-7, 1998 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-9746242

RESUMO

A common feature of most peroxisomal disorders is the accumulation of very-long-chain fatty acids (VLCFAs) and/or pristanic and phytanic acid in plasma. Previously described methods utilizing either gas chromatography alone or gas chromatography-mass spectrometry are, in general, time-consuming and unable to analyze VLCFAs, pristanic and phytanic acid within a single analysis. We describe a simple, reproducible and rapid method using gas chromatography/mass spectrometry with deuterated internal standards. The method was evaluated by analysing 30 control samples and samples from 35 patients with defined peroxisomal disorders and showed good discrimination between controls and patients. This method is suitable for routine screening for peroxisomal disorders.


Assuntos
Ácidos Graxos/sangue , Ácido Fitânico/sangue , Deutério , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Técnicas de Diluição do Indicador , Masculino , Transtornos Peroxissômicos/sangue , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
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