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1.
Acta Orthop Belg ; 89(3): 393-398, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37935220

RESUMO

In our study, we evaluated whether mean platelet volume (MPV) and neutrophil lymphocyte ratio (NLR) are predictive values in the diagnosis of Adolescent Idiopathic Scoliosis in patients diagnosed with scoliosis in our clinic. Approximately 15000 patients who applied to our spine outpatient clinic with the suspicion of scoliosis between 2011 and 2018 were reviewed retrospectively. 292 patients were included in the study. The patients were divided into 3 groups. Group 1; control group group 2; group with the possibility of developing scoliosis under follow-upand group 3; the patient group diagnosed with scoliosis. Spinal curvature degrees of the patients were measured using the Cobb method. The MPV and NLR values of the patients were compared with the degree of curvature measured by the cobb method. NLR was 2.17 ± 2.10 K/ul in Group 1, 2.42 ± 1.76 K/ul in Group 2, and 2.72 ± 3.91 K/ul in Group 3. Although the NLR of the 3rd group was higher than the other 2 groups, it was not statistically significant. (p > 0.05). MPV was 7.90 ± 1.07 fL in Group 1, 7.95 ±1.39 fL in Group 2, 8.33 ± 1.37 fL in Group 3.MPV was higher in Group 3 and was found to be statistically significant (p=0.024). After adjusting for the effects of gender and age variables on the groups, the difference in MPV between groups became more significant (p=0.017) . While there was no statistically significant difference between the groups in terms of NLR, it was observed that MPV was statistically significantly higher in patients with AIS.Could this relationship be a promising inflammatory marker for AIS? We think that this question should be answered by studies involving larger patient and control groups.


Assuntos
Volume Plaquetário Médio , Escoliose , Humanos , Adolescente , Neutrófilos , Estudos Retrospectivos , Escoliose/diagnóstico , Linfócitos
2.
J Endocrinol Invest ; 30(3): 186-91, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17505150

RESUMO

Thyroid diseases may lead to endothelial dysfunction; however, the mechanism underlying the endothelial dysfunction in thyroid disease is not clear yet. Asymmetric dimethylarginine (ADMA), a novel inhibitor of endothelial nitric oxide synthase (eNOS), blocks nitric oxide (NO) synthesis from L-arginine. Symmetric dimethylarginine (SDMA) is the structural isomer of the eNOS inhibitor ADMA. SDMA does not directly inhibit eNOS but is a competitive inhibitor of arginine transport. Increased plasma ADMA, SDMA concentrations, and low L-arginine/ADMA ratio were considered as possible contributing factors for endothelial dysfunction in hyperthyroid patients. On the other hand, plasma ADMA, SDMA levels and L-arginine/ADMA ratio in the hypothyroid group were unexpectedly found to be similar to those of the control subjects. The aim of this study is to evaluate and compare the plasma ADMA levels in hyperthyroid, hypothyroid and healthy subjects. Plasma ADMA, SDMA, and L-arginine levels were measured by high performance liquid chromatography. Plasma ADMA levels were significantly higher in both patients with hyperthyroidism and hypothyroidism than in the control group. SDMA concentrations were significantly increased in hypothyroid patients compared to control subjects. Patients with hyperthyroidism and hypothyroidism had significantly higher plasma L-arginine levels compared with healthy controls. L-arginine/ADMA ratio, which shows NO bioavailability, was significantly lower in hyperthyroid patients than in both hypothyroid and control subjects. In hyperthyroidism, plasma ADMA levels were related to age, L-arginine, and SDMA levels. SDMA was associated with age and L-arginine. L-arginine/ADMA ratio was negatively associated with freeT4 levels. There was a relationship between ADMA and L-arginine in hypothyroid patients. SDMA was significantly related to L-arginine, total cholesterol, and LDL. In conclusion, not only hyperthyroidism but also hypothyroidism was associated with alterations of ADMA and SDMA metabolism.


Assuntos
Arginina/análogos & derivados , Doenças da Glândula Tireoide/sangue , Adulto , Arginina/sangue , Biomarcadores/sangue , Biomarcadores/química , Feminino , Humanos , Hipertireoidismo/sangue , Hipertireoidismo/diagnóstico , Hipotireoidismo/sangue , Hipotireoidismo/diagnóstico , Masculino , Pessoa de Meia-Idade , Doenças da Glândula Tireoide/diagnóstico
3.
Acta Clin Belg ; 61(1): 35-7, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16673615

RESUMO

Myopathy effecting mainly skeletal muscles of the limbs are frequently seen in hyperthyroidism. Rarely bulbar muscles may also be involved, causing dysphagia, nasal speech, and aspiration. We report a 70-year-old woman with severe dysphagia and aspiration pneumonia. Clinical examination and laboratory tests showed an underlying Graves' disease. Her dysphagia improved dramatically by antithyroid therapy. Considering its excellent response to medical therapy, hyperthyroidism--being a very rare factor - is well-worth to remember for the unexplained dysphagia cases.


Assuntos
Antitireóideos/uso terapêutico , Transtornos de Deglutição/diagnóstico , Doença de Graves/diagnóstico , Doença de Graves/tratamento farmacológico , Idoso , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Hiperparatireoidismo/diagnóstico , Hiperparatireoidismo/tratamento farmacológico , Medição de Risco , Índice de Gravidade de Doença , Testes de Função Tireóidea , Resultado do Tratamento
4.
Int J Clin Pract ; 60(12): 1576-81, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16669827

RESUMO

The aim of this study is to find out the relation between the ultrasonographic (USG) measurements of the abdominal fat thickness and cardiovascular risk factors in metabolic syndrome. The thickness of subcutaneous fat (SF), visceral fat (VF) and preperitoneal fat (PF) was measured using USG in 75 subjects (35 women and 40 men) with metabolic syndrome. The body mass index (BMI), waist circumference (WC), systolic (SBP) and diastolic (DBP) blood pressures, fasting plasma glucose, fasting insulin and lipid parameters of all participants were recorded. Insulin resistance was estimated using HOMA-IR formula. BMI (p < 0.05), WC (p < 0.01), SBP (p < 0.001), DBP (p < 0.05), fasting insulin (p < 0.05), total cholesterol (p < 0.001) and triglyceride (p < 0.001) levels were found in correlation with VF thickness in the female group. There was a positive association between WC and SF thickness (p < 0.05) in the same group. In the male patients, BMI (p < 0.001), WC (p < 0.01), SBP (p < 0.05), DBP (p < 0.05) and triglyceride level (p = 0.01) were significantly correlated with VF thickness. SF thickness was associated with BMI (p < 0.001) and WC (p < 0.01) in this group. There was no relation between PF thickness and clinical variables in both groups (p > 0.05). It can be concluded that VF thickness may have a significant pathophysiological role in the development of the metabolic syndrome.


Assuntos
Doenças Cardiovasculares/etiologia , Gordura Intra-Abdominal/patologia , Síndrome Metabólica/patologia , Adulto , Idoso , Índice de Massa Corporal , Doenças Cardiovasculares/patologia , Estudos Transversais , Feminino , Humanos , Gordura Intra-Abdominal/diagnóstico por imagem , Masculino , Síndrome Metabólica/diagnóstico por imagem , Pessoa de Meia-Idade , Fatores de Risco , Ultrassonografia
6.
J Endocrinol Invest ; 28(10): 928-34, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16419496

RESUMO

BACKGROUND: Elevated plasma concentrations of total homocysteine (tHcy) and obesity are risk factors for cardiovascular disease. The relationship between hyperhomocysteinemia and obesity has not been totally elucidated. OBJECTIVE: The first aim of the study was to investigate whether anthropometric measurements and insulin resistance contribute to the variation in homocysteine levels in obese adults. Our second aim was to determine if any relationship exists between the carotid intima-media thickness (IMT) and plasma tHcy levels in obese subjects without traditional cardiovascular risk factors. MATERIAL AND METHODS: Fifty-five obese (15 male, 40 female) and 30 (11 male, 19 female) age- and sex-matched apparently healthy volunteers were included. Exclusion criteria were smoking, hypertension, diabetes, vitamin ingestion, hyperlipidemia, renal failure, liver disease, pregnancy, menopause and secondary obesity such as Cushing's syndrome, hypothyroidism. tHcy, folate, vitamin B12 levels, fasting insulin, glucose, total cholesterol, triglycerides, HDL, LDL particles, uric acid, creatinine and creatinine clearance were measured. Non-invasive ultrasound measurements of carotid IMT were performed. RESULTS: tHcy levels and carotid IMT were comparable between obese and non-obese subjects. Waist/hip ratio (WHR) was related to tHcy and carotid IMT. Hyperhomocysteinemic subjects (tHcy >19.2 micromol/l) had greater WHR than normo-homocysteinemic subjects. Both tHcy levels and carotid IMT were higher in male subjects both in obese and non-obese subjects. No association was observed between insulin resistance and tHcy and carotid IMT. Renal function and abdominal obesity were significant predictors of plasma tHcy levels. CONCLUSIONS: We concluded that, in obese subjects who are free from atherosclerosis and impaired renal function, plasma tHcy levels do not differ from healthy subjects. Plasma tHcy concentrations are not related to carotid IMT in obese subjects during the non-atherogenic stage. Although no significant difference was observed between insulin-resistant and insulin-sensitive subjects compared to the plasma tHcy levels, the relationship between tHcy levels and some components of the insulin resistance syndrome may support the opinion that tHcy may be considered a component of the insulin resistance syndrome.


Assuntos
Artérias Carótidas/patologia , Homocisteína/sangue , Obesidade/sangue , Obesidade/patologia , Túnica Íntima/patologia , Adulto , Índice de Massa Corporal , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/fisiopatologia , Estudos Transversais , Feminino , Humanos , Resistência à Insulina/fisiologia , Masculino , Obesidade/fisiopatologia , Fator Plaquetário 4/fisiologia , Fatores de Risco , Caracteres Sexuais , Relação Cintura-Quadril
7.
Acta Clin Belg ; 59(4): 225-8, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15597731

RESUMO

Autoimmune polyglandular syndrome is characterized by the coexistence of several autoimmune diseases, affecting predominantly the endocrine glands. Autoimmune polyglandular syndrome type III, as a subdivision of autoimmune polyglandular syndrome type II, is the co-occurrence of autoimmune thyroid disease with other autoimmune disorders without Addison disease. We present a rare case of autoimmune polyglandular syndrome type III in monozygotic twins. One of the twins also had autoimmune leukopenia. To our knowledge, leukopenia is the first mentioned coexistence in the literature of autoimmune polyglandular syndrome.


Assuntos
Doenças em Gêmeos , Leucopenia/diagnóstico , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/genética , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/genética , Doenças Autoimunes/terapia , Análise Química do Sangue , Terapia Combinada , Feminino , Humanos , Poliendocrinopatias Autoimunes/terapia , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Gêmeos Monozigóticos
8.
Diabetes Nutr Metab ; 17(4): 247-9, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15575347

RESUMO

This article reports a case of a diabetic patient who suffered from acute painful diabetic neuropathy, following an intensive insulin treatment after a poor glycaemic control period of 8 yr. On the 15th day of the insulin treatment, which enabled rapid successful glycaemic control, the patient began complaining of pain and a burning sensation in the lower extremities, especially during the night. Venlafaxine HCL was initiated and the patient was completely free of pain on the third day of the treatment. As insulin neuritis is infrequent among diabetic patients we consider it is worth reporting the dramatic effect of the venlafaxine HCL treatment.


Assuntos
Analgésicos/uso terapêutico , Cicloexanóis/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Neuropatias Diabéticas/tratamento farmacológico , Dor/etiologia , Doença Aguda , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Dor/tratamento farmacológico , Resultado do Tratamento , Cloridrato de Venlafaxina
9.
J Endocrinol Invest ; 27(5): 455-61, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15279079

RESUMO

UNLABELLED: We investigated the relationship between index of insulin resistance (IR) and exercise test variables in middle-aged asymptomatic patients with Type 2 diabetes. METHODS: 90 patients (48 men, 42 women; age: 49 +/- 6 yr) were included in the study. We used homeostasis model assessment for IR (HOMA-IR) index as index of IR. All patients were subjected to treadmill exercise test. Four subjects were tested positive (4.4%). Study patients were separated into three groups: group I (no.=26) HOMA-IR index <2.24; group II (no.=26) index 2.24-3.59; group III (no.=38) index >3.59. RESULTS: group I had less frequency of cardiovascular risk factors than group II and III (p=0.001). Systolic blood pressure baseline as well as peak exercise values, were higher in group III than in group I and II (p=0.048 vs p=0.01, respectively). Higher total exercise time and peak workload were found in group I than group II and III (p=0.04). The recovery of heart rate (delta HR(pr)) was similar among the study groups. We found significant negative correlations between HOMA-IR and total exercise time and peak workload. In addition we found significant negative correlations between age vs chronotrophic index (CI), delta HR(pr), and peak workload. There were also similar negative correlations between duration of diabetes vs CI and delta HR(pr). CONCLUSIONS: IR is associated with a variety of cardiovascular risk factors. Some exercise test variables point out changes of autonomic tone during exercise in elevated IR group. Negative correlation between HOMA-IR and peak exercise capacity (METs) may well confirm increased mortality in hyperinsulinemia.


Assuntos
Diabetes Mellitus Tipo 2/fisiopatologia , Exercício Físico/fisiologia , Resistência à Insulina/fisiologia , Adulto , Fatores Etários , Pressão Sanguínea/fisiologia , Doença das Coronárias/fisiopatologia , Teste de Esforço , Feminino , Frequência Cardíaca/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estatísticas não Paramétricas
10.
J Endocrinol Invest ; 27(6): 574-6, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15717657

RESUMO

Cushing's syndrome is characterized by endogenously increased production of glucocorticoids. The activity of immune system is regulated mainly by two systems in the body. Glucocorticoids and NF-kappaB counteract the effects of each other on the immune system. It has been reported that immune response is exaggerated after the amelioration of Cushing's syndrome. We report a rare case of exacerbation of Graves' disease after unilateral adrenalectomy for Cusing's syndrome. A 50-yr-obese woman with hypertension, dyslipidemia, impaired glucose tolerance and insulin resistance wasadmitted to outpatients clinic of endocrinology. The results of evaluation of glucocorticoids metabolism and adrenal magnetic resonance imaging revealed the Cusing's syndrome. We also assessed thyroid function tests because of the diagnosis of goiter and thyroid hormone replacement in her medical history, and the presence of exophthalmia and tachycardia in examination. Althoug TSH level was detected at the lower border of normal range, free T4 and free T3 were in normal range and autoantibody of thyroidal peroxidase and thyroglobulin was higer than normal reference range. An operation was performed and a mass was removed from her left adrenal gland. The pathologic examination confirmed adrenal adenoma. She was re-admitted to the outpatient clinic 9 months after with complaints of palpitation, malaise and weight loss. Tests carried out to determine the thyroid function revealed Graves' disease. We prescribed propylthiouracil and beta-blocker treatment.


Assuntos
Adrenalectomia/efeitos adversos , Síndrome de Cushing/cirurgia , Doença de Graves/etiologia , Doença de Graves/patologia , Progressão da Doença , Fadiga , Feminino , Lateralidade Funcional , Frequência Cardíaca , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Obesidade , Índice de Gravidade de Doença , Redução de Peso
11.
Intern Med ; 40(9): 857-61, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11579944

RESUMO

OBJECTIVE: It is well known that bromocriptine has a suppressive effect on the prolactin release in hyperprolactinemic patients. But it also has some adverse effects. The new, long-acting dopaminergic drug, cabergoline, has been reported to be an effective agent in these patients. However, there are relatively few reports comparing the beneficial and adverse effects of these drugs in the treatment of hyperprolactinemic patients. Therefore, here we studied and compared the efficacy and tolerability of cabergoline with bromocriptine in hyperprolactinemic patients. PATIENTS: Seventeen patients (7 with microprolactinoma, 4 with macroprolactinoma, 6 with idiopathic hyperprolactinemia) were given bromocriptine at a dose of 2.5 mg (or 5 mg for macroprolactinomas) twice daily, and 17 patients (8 with microprolactinoma, 4 with macroprolactinoma, 5 with idiopathic hyperprolactinemia) were given cabergoline at a dose of 0.5 mg twice weekly for 12 weeks. RESULTS: At the end of the study, the prolactin reduction was significantly greater in the cabergoline group than in the bromocriptine group (-93 vs. -87.5 %, respectively, p < 0.05). Normalization of prolactin levels was achieved in 10 of 17 patients (59%) in the bromocriptine group, and in 14 of 17 patients (82%) in the cabergoline group (p = 0.13). Two patients (50%) with macroprolactinoma in the bromocriptine group and three patients (75%) with macroprolactinoma in the cabergoline group demonstrated a normalization of their serum prolactin levels. Adverse events were noted in 53% of bromocriptine patients and in 12% of cabergoline patients (p < 0.01). CONCLUSION: These data indicate that cabergoline is a very effective agent for lowering the prolactin levels in hyperprolactinemic patients and that it appears to offer considerable advantage over bromocriptine in terms of efficacy and tolerability.


Assuntos
Antineoplásicos Hormonais/uso terapêutico , Bromocriptina/uso terapêutico , Agonistas de Dopamina/uso terapêutico , Ergolinas/uso terapêutico , Antagonistas de Hormônios/uso terapêutico , Hiperprolactinemia/tratamento farmacológico , Neoplasias Hipofisárias/tratamento farmacológico , Prolactina/sangue , Prolactinoma/tratamento farmacológico , Adulto , Bromocriptina/efeitos adversos , Cabergolina , Agonistas de Dopamina/efeitos adversos , Ergolinas/efeitos adversos , Feminino , Antagonistas de Hormônios/efeitos adversos , Humanos , Hiperprolactinemia/sangue , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/sangue , Prolactinoma/sangue , Resultado do Tratamento
12.
Endocr Res ; 27(1-2): 203-13, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11428712

RESUMO

The effects of thyroid hormones on various organs and metabolic systems have been the focus of intensive research. In this study we investigated the mechanisms of the changes in some parameters of bone and mineral metabolism before and during treatment of hyper- and hypothyroidism. Our study groups were as follows; 1) Untreated hyperthyroid patients (n= 38), 2) Hyperthyroid patients treated for three months (n=21), 3) Untreated hypothyroid patients (n=27), 4) Hypothyroid patients treated for three months (n= 20), and 5) Euthyroid control subjects (age, weight, sex and menopausal status matched) (n = 47). As expected, the mean serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), and urinary Ca/creatinine and deoxypyridinoline (D-Pyr)/creatinine levels were higher in group-1 than in the control group. Serum PTH level was lower in group-1 than in group-5. However, after treatment for three months (group-2) we found that the serum and urinary levels of these parameters (except ALP) were not different than in the control group. Group-3 and group-4 did not show any differences in these parameters compared with group-5. Covariance analysis showed that urinary D-Pyr excretion had a positive, independent relationship to the serum free T3 level and age (P < 0.001 and P = 0.02, respectively). These results suggest that both bone formation and resorption markers increase in hyperthyroid patients, and with the treatment, particularly, in the period of first three months the bone resorption markers decrease rapidly. If the treatment is maintained the decrease slows, becoming more gradual. However, bone formation markers like ALP remain high in hyperthyroid patients during the treatment. In the light of this data, it is possible to conclude that osteoblastic activity lasts longer in hyperthyroidism. On the other hand, we demonstrated that these bone formation and resorption markers do not seem to be different in hypothyroid patients, even during the treatment, compared to the euthyroid controls.


Assuntos
Osso e Ossos/metabolismo , Hipertireoidismo/tratamento farmacológico , Hipotireoidismo/tratamento farmacológico , Minerais/metabolismo , Adulto , Envelhecimento , Fosfatase Alcalina/sangue , Aminoácidos/urina , Índice de Massa Corporal , Cálcio/sangue , Cálcio/urina , Creatinina/urina , Feminino , Humanos , Hipertireoidismo/metabolismo , Hipotireoidismo/metabolismo , Menopausa , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Fósforo/sangue , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangue
13.
Anadolu Kardiyol Derg ; 1(1): 17-21; AXIII, 2001 Mar.
Artigo em Turco | MEDLINE | ID: mdl-12122966

RESUMO

OBJECTIVE: Contraction and relaxation of the heart cause decrease and increase in myocardial video intensity (MVI) recorded from echocardiographic images, respectively. The present study was planned to compare this physiological cyclic variations of MVI in patients with type 1 diabetes mellitus and healthy subjects. METHODS: For this purpose, standard echocardiographic examination was performed to 18 young patients (age 23.2+6.4; range: 15-37 years) with insulin dependent type 1 diabetes mellitus (diabetes duration: 7.8+5.6; range: 1-17 years) and 14 age and sex matched controls. In all subjects, end-diastolic and end-systolic 2D echocardiographic images of 3 consecutive beats that had been recorded on videotapes were digitized. The quantitative analysis of digitized imaging was performed with the help of a calibrated digitization system in order to calculate the septum and the posterior wall textural parameters. The cyclic variation index (CVI) of the mean gray level (MGL) was calculated according the formula: (MGL dias- MGL diast x 100. RESULTS: Among the groups, left ventricular diastolic dimension-index, fractional shortening, E/A ratio, and isovolumic relaxation time showed no statistically significant differences, while septum and (8.3+1.1 vs. 7.3+0.9 mm; p=0.016) and posterior wall thickness (8+0.6 vs. 6.8+1.1mm; p=0.004) and E-deceleration time (167+23 vs. 140=19 msec.; p=0.003) were significantly higher in diabetics. The diabetic patients showed significantly lower CVI both for septum (18.2+11.5% vs. 39.3+11.5%; p=0.0001) and posterior wall (16.4+16% vs. 40.5+9.2%; p=0.0001), respectively. CONCLUSIONS: Altered videoensitometric parameters possibly represent a preclinical alteration, conceivably related to the myocardial collagen content increase, which does not necessarily indicate an actual disease but may be considered an early marker of the histopathologic findings of diabetic cardiomyopathy.


Assuntos
Diabetes Mellitus Tipo 1/fisiopatologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Adolescente , Adulto , Estudos de Casos e Controles , Densitometria , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico por imagem , Ecocardiografia , Feminino , Humanos , Hipertrofia Ventricular Esquerda/complicações , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Processamento de Imagem Assistida por Computador , Masculino , Contração Miocárdica , Remodelação Ventricular , Gravação de Videoteipe
14.
Wien Med Wochenschr ; 146(12): 261-3, 1996.
Artigo em Alemão | MEDLINE | ID: mdl-8967099

RESUMO

Growth retardation, hypogonadismus, hepatosplenomegalia, zinc- and iron deficiency, geofagia, changes in small intestinal mucosa and some congenital abnormalities are characteristics of the Prassad syndrome, which is rarely seen. In this case report we present a patient of our clinic, in whom we diagnosed the Prassad syndrome.


Assuntos
Anormalidades Múltiplas/genética , Anemia Ferropriva/genética , Nanismo/genética , Hipogonadismo/genética , Zinco/deficiência , Anormalidades Múltiplas/diagnóstico , Adulto , Anemia Ferropriva/diagnóstico , Diagnóstico Diferencial , Nanismo/diagnóstico , Hepatomegalia/genética , Humanos , Hipogonadismo/diagnóstico , Mucosa Intestinal/patologia , Masculino , Esplenomegalia/genética , Síndrome
15.
Wien Med Wochenschr ; 145(14): 333-6, 1995.
Artigo em Alemão | MEDLINE | ID: mdl-7483648

RESUMO

Pheochromocytoma is a rare disorder. It usually presents typical hypertensive crises due to katecholamine secretion. Some rare cases of pheochromocytoma have been described to secrete mostly adrenalin and cause characteristical attacks of hypotension and tachycardia. The patient presented here is one of these rare cases. In patients with similar symptoms it is important to consider the possibility of an adrenalin-secreting pheochromocytoma when establishing a diagnosis.


Assuntos
Neoplasias das Glândulas Suprarrenais/complicações , Hipotensão/etiologia , Feocromocitoma/complicações , Taquicardia/etiologia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Diagnóstico Diferencial , Diagnóstico por Imagem , Humanos , Masculino , Pessoa de Meia-Idade , Feocromocitoma/diagnóstico
17.
Wien Med Wochenschr ; 144(4): 78-81, 1994.
Artigo em Alemão | MEDLINE | ID: mdl-8023526

RESUMO

The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed.


Assuntos
Síndrome de Wolfram/diagnóstico , Adulto , Atrofia , Encéfalo/patologia , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Diagnóstico Diferencial , Genes Recessivos/genética , Antígenos HLA/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Síndrome de Wolfram/genética , Síndrome de Wolfram/fisiopatologia
19.
Nucleic Acids Res ; 14(6): 2637-50, 1986 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-3515321

RESUMO

The UvrB protein is one of the three subunits of the E. coli ABC excinuclease. We have reported the sequences of the other two subunits, the UvrA and UvrC proteins. In this paper the sequence of the UvrB protein is presented. The protein sequence was determined from the DNA sequence of the uvrB gene and was confirmed by sequencing the NH2-terminus of the UvrB protein and analyzing its overall amino acid composition. The coding region of uvrB is 2019 basepairs, specifying a protein of 672 amino acids and Mr of 76,118. The sequence of the UvrB protein shows a moderate level of homology to that of the UvrC protein and to the ATP binding site of the UvrA protein. During purification of UvrB protein a proteolytic product, UvrB, is produced in high quantities. We find that UvrB results from removal of about 40 amino acids from the COOH-terminus of the UvrB protein. The uvrB gene has complex regulatory features. On the 5' side, the coding region is preceded by 3 promoters, a DnaA box and an SOS box. On the 3' side the gene is followed by an REP (Repetitive Extragenic Palindrome) sequence which has been implicated in gene regulation by an unknown mechanism.


Assuntos
Proteínas de Bactérias/genética , Endodesoxirribonucleases/genética , Proteínas de Escherichia coli , Escherichia coli/genética , Genes Bacterianos , Serina Endopeptidases , Sequência de Aminoácidos , Proteínas de Bactérias/metabolismo , Sequência de Bases , Códon , Regulação da Expressão Gênica , Sequências Repetitivas de Ácido Nucleico , Homologia de Sequência do Ácido Nucleico
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