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1.
Niger J Clin Pract ; 25(5): 582-588, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35593599

RESUMO

Aim: In this study, we aimed to investigate the interleukin-17A (IL-17A) levels in patients with high-grade glial tumors before receiving radiotherapy, immediately after radiotherapy, and 3 months after radiotherapy. Patients and Methods: A total of 33 patients who applied to Adana City Training and Research Hospital, Department of Radiation Oncology between December 2016 and May 2018 was included in this study. A total of three blood samples was taken from each patient to assess IL-17A levels before and after radiotherapy and 3 months after the completion of radiotherapy. Results: The differences in IL-17A levels between genders were not statistically significant. IL-17A levels progressively decreased after the radiotherapy and 3 months after the radiotherapy as compared to the levels before radiotherapy. However, this was not statistically significant. IL-17A levels in the non-surviving patients were high before and after radiotherapy as compared to the surviving ones, but this was also not statistically significant. Conclusion: As compared to the period before radiotherapy, IL-17A levels tend to decrease in the period of acute and chronic phases of radiotherapy in all patient groups.


Assuntos
Neoplasias Encefálicas , Glioma , Interleucina-17 , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/radioterapia , Feminino , Glioma/metabolismo , Glioma/radioterapia , Humanos , Interleucina-17/metabolismo , Masculino
2.
Niger J Clin Pract ; 24(4): 595-599, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33851683

RESUMO

AIMS: This study aimed to compare the clinical courses, complications, and clinical outcome scores of patients with perimesencephalic (PM) and nonperimesencephalic (n-PM) subarachnoid hemorrhage (SAH) with no vascular pathology observed on cerebral angiography. MATERIALS AND METHODS: This retrospective study included 52 of 310 patients who underwent cerebral digital subtraction angiography for SAH between October 2016 and April 2018. The patients were categorized into PM and n-PM groups based on the type of hemorrhage observed on brain CT. The patients Fischer's grades, Glasgow Coma Scale scores, and World Federation of Neurosurgical Societies SAH grades were recorded. Hydrocephalus, vasospasm findings in both groups, and modified Rankin scale (mRS) scores were assessed, and vascular pathology factors (diabetes mellitus, hypertension, and smoking) were compared between the patient groups. RESULTS: The PM group included 30 patients, the n-PM group 22 patients. Minimal hydrocephalus was observed in two patients in the PM group and six patients developed apparent hydrocephalus in the n-PM group. Angiographic vasospasm was observed in four patients in the n-PM group but none of the patients in the PM group. On discharge, all patients in the PM group had mRS scores of 0. One patient in the n-PM group become exitus and 18 patients were discharged mRS 0, 2 for two patients, and 3 for one patient. CONCLUSION: The patients with PM SAH experienced a benign course, whereas those with n-PM SAH showed a higher risk of vasospasm and hydrocephalus as well as worse exit scores.


Assuntos
Hidrocefalia , Hemorragia Subaracnóidea , Angiografia Cerebral , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Neuroimagem , Estudos Retrospectivos , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/epidemiologia , Hemorragia Subaracnóidea/etiologia
3.
Niger J Clin Pract ; 23(11): 1572-1577, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33221784

RESUMO

AIMS: The present study aimed to evaluate the clinical usefulness of endoscopic treatment of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus and discuss the clinical features and outcomes of thirteen children treated at our institution. METHOD: We treated thirteen pediatric cases of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus between January 2012 and September 2018. Five female and eight male patients were enrolled in the study. The patients had increased intracranial pressure symptoms due to hydrocephaly. Endoscopic treatment was performed in all cases. RESULTS: The patients were followed-up for an average of 36.8 months. The postoperative intracranial pressure findings improved. There was a reduction in the size of the cyst and ventricles and enlargement of the cortical sulci. One patient suffered transient oculomotor nerve deficit. No further surgical interventions, such as shunt placement, were required during the follow-up period. The head circumference of two of the patients with macrocephaly were stable during the follow-up. There were no postoperative recurrences detected. CONCLUSIONS: Endoscopic cyst fenestration and third ventriculostomy are less invasive, safer, and more effective ways to treat suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus in children with hydrocephaly.


Assuntos
Cistos Aracnóideos/cirurgia , Cistos do Sistema Nervoso Central/cirurgia , Endoscopia/métodos , Hidrocefalia/cirurgia , Terceiro Ventrículo/cirurgia , Ventriculostomia/métodos , Adolescente , Cistos Aracnóideos/patologia , Cistos do Sistema Nervoso Central/patologia , Ventrículos Cerebrais/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Hipertensão Intracraniana , Pressão Intracraniana , Masculino , Recidiva Local de Neoplasia , Período Pós-Operatório , Procedimentos de Cirurgia Plástica , Resultado do Tratamento
4.
Niger J Clin Pract ; 23(6): 835-841, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32525120

RESUMO

AIMS: This study aims to investigate the effectiveness of transforaminal epidural steroid injection (TFESI) in patients with lumbar radicular pain or radiculopathy caused by different spinal pathologies. METHODS: One hundred and seventy seven patients who underwent single transforaminal epidural steroid injection were included in the study group and divided into 3 subgroups (central spinal stenosis + lateral recess stenosis, foraminal stenosis, lumbar disc herniation) according to existing spinal pathology. Patients' visuel analogue scale (VAS) measures and Oswestry Disability Index (ODI) scores were recorded and the patients who give favourable response to treatment were called respondents and who were not called as non-respondents. Subgroups were compared statistically at the end of 12 months. RESULTS: Sixty patients (33.9%) were considered as respondents and 117 patients (66.1%) were non-respondents in the entire study group. Patients with foraminal stenosis included the vast majority of the respondents and showed better results of pain relief as opposed to patients of other groups at the end of 12 months (P < 0.001). CONCLUSION: TFESI was an effective treatment modality for pain relief and functional improvement in patients with foraminal stenosis. However, it could not produce the same results in patients with central spinal stenosis and lumbar disc herniations.


Assuntos
Dor nas Costas/tratamento farmacológico , Injeções Epidurais/efeitos adversos , Deslocamento do Disco Intervertebral/diagnóstico , Vértebras Lombares/fisiopatologia , Medição da Dor/métodos , Radiculopatia/tratamento farmacológico , Estenose Espinal/tratamento farmacológico , Esteroides/administração & dosagem , Adulto , Idoso , Dor nas Costas/etiologia , Feminino , Humanos , Vértebras Lombares/efeitos dos fármacos , Região Lombossacral/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Manejo da Dor/métodos , Medição da Dor/efeitos dos fármacos , Estudos Retrospectivos , Estenose Espinal/complicações , Estenose Espinal/diagnóstico , Esteroides/efeitos adversos , Resultado do Tratamento , Escala Visual Analógica
5.
Genet Couns ; 25(3): 305-13, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25365853

RESUMO

Small supernumerary ring chromosomes (sSRC) represent a subset of small supernumerary marker chromosomes (sSMC) where r(8) is relatively common. The phenotype sSRC(8) ranges from almost normal to variable degrees of abnormalities in mosaic or non-mosaic conditions. We present a new patient of de novo mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p11.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47,XY,+r(?) [47]/46,XY [36] and we performed array comparative genomic hybridization (array-CGH) in order to precisely define the extension about chromosomal origin of the duplicated region in a patient. Array-CGH analysis confirmed that the sSRC derived a 43.921 Mb genomic gain of chromosome 8 (p11.21-q21.13). Common clinical features of the patient included multiple congenital anomalies, developmental delay, thoracolumbar scoliosis, mild pulmonary stenosis, laryngomalacia, hypospadias and atypical facial appearance. With this study a patient involving mosaic trisomy 8p11.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q.


Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Mosaicismo , Trissomia/genética , Anormalidades Múltiplas/diagnóstico , Pré-Escolar , Bandeamento Cromossômico , Cromossomos Humanos Par 8/genética , Hibridização Genômica Comparativa , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Análise Citogenética , Deficiências do Desenvolvimento/diagnóstico , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Seguimentos , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Cromossomos em Anel , Trissomia/diagnóstico
6.
Genet Couns ; 24(3): 299-305, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24341145

RESUMO

Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X, without any mosaicism. SRY gene was positive by polymerase chain reaction (PCR), and rearranged on distal part of the 7th chromosome by fluorescence in situ hybridization (FISH) analysis. SRY, normally located on the Y chromosome, is the most important gene that plays a role in the development of male sex. SRY gen may be translocated onto another chromosome, mostly X chromosome in the XX testicular DSD. On the other hand very few cases of 45 X testicular DSD were published to date. Other clinical manifestations of our patient were compatible with distal 7 q deletion syndrome. To the best of our knowledge this is the first case of 45 X testicular DSD with SRY gene rearranged on the 7th autosomal chromosome.


Assuntos
Anormalidades Múltiplas/genética , Transtornos do Desenvolvimento Sexual/genética , Genes sry/genética , Deleção de Sequência/genética , Translocação Genética/genética , Cariótipo Anormal , Aberrações Cromossômicas , Cromossomos Humanos Par 7/genética , Cromossomos Humanos X/genética , Humanos , Hibridização in Situ Fluorescente/métodos , Lactente , Mosaicismo , Reação em Cadeia da Polimerase/métodos
7.
Minerva Endocrinol ; 37(3): 275-82, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22766894

RESUMO

AIM: Treatment of congenital adrenal hyperplasia (CAH) consists of lifelong glucocorticoid therapy (GT), and long-term GT may cause osteoporosis. We aim to analyse bone mineral status (BMS) and bone turnover markers in children with CAH. Methods. The study included 17 patients with CAH (mean age ± SD; 7.96± 3.58 years, range 3-13.3 years) and age-matched controls. Bone metabolism rate, vitamin D status and BMS were analyzed. Alterations in bone metabolism rate were prospectively evaluated. Results. We found that BMS Z score did not differ between the patients and control group. Vitamin D deficiency is common in groups, and osteocalcin, ß crosslaps and PTH was higher in patients than the healthy controls (5.3±3.4 vs. 3.2±1.8, P=0.036 and 2.19±1.59 vs. 1.27±0.99, P=0.049, 38.1±18.3 vs. 22.7±13.3, P=0.009, respectively). BMS Z score was only positively correlated with 17 OHP levels (r=0.462, P=0.05) and height SD Z scores (r=0.477, P=0.049). Seasonal measurements of vitamin D status, PTH levels and bone turnover markers exhibit that PTH levels, osteocalcin and ß crosslaps increase in response to low vitamin D levels. Conclusion. Children with CAH have BMS values that are not different age-matched controls. Vitamin D status should be systematically measured in CAH patients, and supplementation should be recommended in patients with low vitamin D levels.


Assuntos
Absorciometria de Fóton , Hiperplasia Suprarrenal Congênita/sangue , Conservadores da Densidade Óssea/sangue , Densidade Óssea , Remodelação Óssea , Osteocalcina/sangue , Hormônio Paratireóideo/sangue , Vitamina D/sangue , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Hiperplasia Suprarrenal Congênita/metabolismo , Algoritmos , Biomarcadores/sangue , Conservadores da Densidade Óssea/administração & dosagem , Osso e Ossos/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Colágeno/sangue , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Humanos , Masculino , Osteoporose/induzido quimicamente , Fragmentos de Peptídeos/sangue , Estudos Prospectivos , Vitamina D/administração & dosagem , Deficiência de Vitamina D/tratamento farmacológico
8.
Genet Couns ; 23(3): 423-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23072192

RESUMO

Situs inversus is a laterality disorder of the internal organs, which create a mirror image of the normal morphology, and are associated with cardiovascular, abdominal, and pulmonary malformations. We report a case with constitutional growth delay, thumb and renal agenesis, dysmorphic facial features, carpal tunnel syndrome and situs inversus totalis.


Assuntos
Situs Inversus/patologia , Adolescente , Anormalidades Congênitas/genética , Nanismo/genética , Humanos , Rim/anormalidades , Nefropatias/congênito , Nefropatias/genética , Situs Inversus/genética , Polegar/anormalidades
9.
Bratisl Lek Listy ; 112(11): 626-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22180989

RESUMO

OBJECTIVE: While isolated hepatosteatosis is a benign disease, in minority of cases non-alcoholic steatohepatitis (NASH) may even lead to cirrhosis in long-term. In order to find the stage of the disease and determine the prognosis, a liver biopsy is indicated. In this study, we studied the relationship of liver histopathological findings with serum levels of hepatic enzymes. METHODS: We recruited 52 cases of NASH with Type 2 diabetes mellitus. Diagnosis of NASH was made based on biochemical tests, ultrasound images and liver biopsy. RESULTS: Steatosis was mild in 57.7%, moderate in 30.8%, and severe in 11.6% of patients. While no infiltration was found in 78.8% of cases, there was a grade-1 infiltration in 15.4% and a grade-2 infiltration in 5.8% of cases. Similarly, no fibrosis was found in 42.3% of patients, but there was a stage-1 fibrosis in 50%, and a stage-2 fibrosis in 7.7% of cases. In patients with severe steatosis, serum levels of AST were higher than mild or moderate stage steatosis. Accordingly, in patients with no inflammation, serum levels of ALT were higher than in patients with inflammation. However, in patients with fibrosis, triglycerides levels were significantly lower and ALP was significantly higher than in patients without fibrosis. The correlation analysis indicated a positive association between serum levels of ALP and C-peptide. CONCLUSION: In addition to conventional risk factors such as age, presence of diabetes, female sex; higher levels of ALP may be considered as a risk factor linked to hepatic fibrosis in patients with NASH and type 2 diabetes (Tab. 6, Ref. 8).


Assuntos
Fosfatase Alcalina/sangue , Diabetes Mellitus Tipo 2/complicações , Fígado Gorduroso/complicações , Fígado Gorduroso/patologia , Cirrose Hepática/diagnóstico , Biomarcadores/sangue , Biópsia por Agulha , Feminino , Humanos , Fígado/patologia , Cirrose Hepática/complicações , Cirrose Hepática/patologia , Masculino , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica
10.
J Viral Hepat ; 16(4): 279-85, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19222742

RESUMO

The aims of the study were to investigate the efficacy of rescue therapy with lamivudine (LAM) and adefovir (ADV) combination for 6 months followed by ADV monotherapy in lamivudine-resistant chronic hepatitis B (LAM-R CHB) patients, and to analyze the frequency of ADV resistance mutant development in such patients. A total of 170 consecutive LAM-R CHB patients (male/female: 130/40, mean age: 42.9+/-13.4 years) with viral breakthrough under LAM therapy were analyzed. A total of 68 had HBeAg-positive. Patients received rescue therapy with LAM [100 mg (qd)]+ADV [10 mg (qd)] for 6 months after which LAM was discontinued. HBV-DNA was assessed with the HBV-DNA 3.0 bDNA assay. ADV-resistant mutations were identified by sequencing the reverse transcriptase region. The median duration of rescue therapy was 24 months. Cumulative probability of becoming HBV-DNA undetectable was 33.8%, 59.6% and 68.2% after 24, 48 and 96 weeks of treatment, respectively. These figures were 43.2%, 58.0% and 73.1% for ALT normalization. Among 68 HBeAg-positive CHB patients, 10 patients had an e-antigen seroconversion. Low baseline HBV-DNA level (<10(7) copies/mL) was a significant predictor of response to ADV treatment (P<0.01). Cumulative probability of ADV resistance was 1.2%, 15.1% and 37.3% at 12, 24 and 36 months of therapy, respectively. By multivariate analysis, baseline high viral load and primary nonresponse to treatment at week 24 predicted ADV resistance. The data indicate that a time limited add-on strategy does not provide benefit over the switch strategy with respect emergence of ADV resistant mutants in LAM-R CHB patients.


Assuntos
Adenina/análogos & derivados , Antivirais/uso terapêutico , Farmacorresistência Viral , Hepatite B Crônica/tratamento farmacológico , Organofosfonatos/uso terapêutico , Adenina/farmacologia , Adenina/uso terapêutico , Adulto , Substituição de Aminoácidos/genética , Antivirais/farmacologia , DNA Viral/sangue , DNA Viral/genética , Feminino , Antígenos E da Hepatite B/sangue , Vírus da Hepatite B/efeitos dos fármacos , Humanos , Lamivudina/farmacologia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Organofosfonatos/farmacologia , Terapia de Salvação/métodos , Análise de Sequência de DNA , Resultado do Tratamento , Carga Viral
11.
Ann Trop Paediatr ; 29(1): 23-8, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19222930

RESUMO

AIM: To analyse the epidemiological and clinical features of children with Crimean-Congo haemorrhagic fever (CCHF) in north-eastern Turkey. METHODS: A retrospective study of demographic features and physical and laboratory findings in 21 children with CCHF is described. Clinical course, treatment modalities and outcome were analysed. RESULTS: Most patients were admitted in June and July 2008; most were from the Gumushane and Kelkit valleys and half of them lived in rural areas. Mean (SD) age was 10.3 (3.9) years and the disease was more common in males (71.4%). Approximately 70% had a history of tick bite. The main symptoms were fever (17, 80.9%), nausea (11, 52.3%), malaise (10, 47.6%) and headache (7, 33.3%). At initial examination, approximately 70% of patients had leukopenia and 65% had thrombocytopenia. Anaemia developed during follow-up in six patients. Liver involvement was seen in 12 patients and one patient had acute tubular necrosis. Six patients had haemophagocytosis. Patients were hospitalised for a median 8 days (range 3-22) and nine patients had bleeding from various sites approximately 3-5 days after hospitalisation. Subcutaneous haematoma (6), especially epistaxis and at venepuncture sites (6) were the most common sites of bleeding. Pulmonary haemorrhage developed in two patients and they required ventilatory support. Overall mortality related to CCHF was 4.7% (one patient). CONCLUSION: Early diagnosis of CCHF and early referral to specialised centres are important for outcome. Exceptional epidemics may be seen in future owing to ecological and environmental changes.


Assuntos
Febre Hemorrágica da Crimeia/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Febre Hemorrágica da Crimeia/complicações , Febre Hemorrágica da Crimeia/diagnóstico , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Saúde da População Rural/estatística & dados numéricos , Turquia/epidemiologia
12.
Acta Neurochir (Wien) ; 149(8): 829-30; discussion 830, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17660941

RESUMO

Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, cerebral atrophy, mental retardation, glaucoma, seizures and hemiparesis. CT and MR are complementary in the evaluation of this disease. Epilepsy is an essential feature of Sturge-Weber syndrome and it has a major significance for prognosis and treatment. We report a 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported.


Assuntos
Anormalidades Múltiplas/diagnóstico , Cistos Aracnóideos/congênito , Encefalopatias/congênito , Calcinose/congênito , Cistos do Sistema Nervoso Central/congênito , Epilepsia Generalizada/etiologia , Lipoma/congênito , Imageamento por Ressonância Magnética , Lobo Occipital/anormalidades , Síndrome de Sturge-Weber/diagnóstico , Lobo Temporal/anormalidades , Tomografia Computadorizada por Raios X , Anticonvulsivantes/uso terapêutico , Cistos Aracnóideos/diagnóstico , Encefalopatias/diagnóstico , Calcinose/diagnóstico , Cistos do Sistema Nervoso Central/diagnóstico , Angioma Venoso do Sistema Nervoso Central/diagnóstico , Pré-Escolar , Epilepsia Generalizada/tratamento farmacológico , Seguimentos , Humanos , Lipoma/diagnóstico , Masculino , Lobo Occipital/patologia , Lobo Temporal/patologia
13.
Diabetes Metab ; 32(4): 323-9, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16977259

RESUMO

OBJECTIVE: To analyze the prevalence and clinical significance of thyroid autoimmunity, thyroid volume and iodine status in patients with type 1 diabetes mellitus compared with age and sex matched healthy controls, in an iodine-deficiency improved area. METHOD: Fifty-eight patients with type 1 DM, 30 female and 28 male, who attended the pediatric endocrinology clinic of Karadeniz Technical University Hospital were included into the study. They were compared with 58 healthy children matched for sex and age. Routine thyroid function parameters, thyroid autoantibodies (TPOAb, TGAb and TRAb) and urinary iodine excretion were measured and thyroid volume was determined by ultrasonography (US). RESULTS: Twenty-six patients (44.8%) in diabetic patients and 20 subjects (34.5%) in the control group had thyroid autoantibody positivity. TPOAb and TGAb positivity were significantly high in diabetic patients (P=0.01 and P=0.032, respectively). Thyroid US revealed a thyroid volume of 6.6+/-3.5 ml (median 6.4 ml, range 1.117.2 ml) in the diabetic patients compared with 3.7+/-2 ml (median 3.1 ml, range 0.8-8.6 ml) in the control group (P=0.0001). Median urinary iodine levels of both groups were clearly above the threshold level for iodine deficiency, but 26 patients with type 1 DM (44.8%) and 16 controls (27.5%) had urinary iodine excretion below 100 microg/L, and 21 (36.2%) of diabetic patients and two subjects (3.4%) of the control group were consistent with severe iodine deficiency. No significant differences were noted in diabetic patients in terms of age, duration and metabolic control of the disease and thyroid volume when compared according to the autoantibody presence. Additionally, there were no significant differences between the iodine deficient and iodine sufficient diabetic patients in terms of age, sex, duration of disease, HbA1c, thyroid hormones and thyroid volumes. Thyroid autoimmunity was lower in patients with iodine deficiency (38.4% vs. 50%), but not statistically significant. CONCLUSION: We found that type 1 DM patients had larger thyroid volume compared with healthy control groups, and a large portion of them had the markers of autoimmune thyroid disease and iodine deficiency. Surprisingly, we found that a large portion of the healthy children had TRAb positivity. We proposed that TRAb must be considered in community surveys or prevalence studies of autoimmune thyroid disorders in iodine-replete areas. Additionally, prospective longitudinal studies are needed to determine the clinical significance of TRAb positivity in diabetic patients.


Assuntos
Diabetes Mellitus Tipo 1/urina , Iodo/urina , Testes de Função Tireóidea , Glândula Tireoide/anatomia & histologia , Adolescente , Autoimunidade , Índice de Massa Corporal , Criança , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/imunologia , Feminino , Humanos , Masculino , Valores de Referência , Glândula Tireoide/imunologia , Tireotropina/sangue , Turquia
14.
Genet Couns ; 16(1): 101-5, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15844787

RESUMO

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.


Assuntos
Encefalopatias/complicações , Encefalopatias/genética , Cerebelo/anormalidades , Face/anormalidades , Variação Genética/genética , Hamartoma/complicações , Hamartoma/genética , Hipotálamo , Síndromes Orofaciodigitais/complicações , Síndromes Orofaciodigitais/genética , Polidactilia/complicações , Polidactilia/genética , Encefalopatias/patologia , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/diagnóstico por imagem , Hamartoma/patologia , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Hipotálamo/patologia , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Síndromes Orofaciodigitais/patologia , Polidactilia/diagnóstico , Tomografia Computadorizada por Raios X
15.
Invest Radiol ; 37(2): 86-90, 2002 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11799332

RESUMO

OBJECTIVE: To perform transcranial Doppler sonography in newborns and infants with bacterial meningitis to evaluate predictive value of neurologic sequelae. MATERIALS AND METHODS: Thirty-three patients (15 newborn, 18 infant patients) with bacterial meningitis underwent cranial Doppler ultrasonography during acute phase and 3rd and 6th months after disease. Patients were examined regularly for neurologic outcome with electroencephalography and magnetic resonance imaging. The age-matched control group consisted of 20 healthy children underwent cranial Doppler sonography only. RESULTS: To compare with the healthy controls, the mean blood flow velocity was significantly increased (P < 0.001), and pulsatility index was higher than those control group (P < 0.05) during acute bacterial meningitis. None of the patients were diagnosed with stenosis of cerebral artery. According to neurologic outcome, 14 of 33 patients had neurologic sequelae. The mean cerebral blood flow was significantly higher (P < 0.01) in patients without neurologic sequelae; pulsatility index was significantly higher (P < 0.05) in patients with neurologic sequelae when compared with the healthy controls. There was no significant difference between mean cerebral blood flow velocities and mean pulsatility index values of newborn and infant patients, regarding to neurologic outcome (P < 0.05). CONCLUSION: Cranial Doppler ultrasonography is useful for prediction of neurologic sequelae in infants with bacterial meningitis.


Assuntos
Meningites Bacterianas/complicações , Doenças do Sistema Nervoso/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Circulação Cerebrovascular , Eletroencefalografia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Meningites Bacterianas/diagnóstico por imagem , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/etiologia , Valor Preditivo dos Testes , Estudos Prospectivos , Fluxo Pulsátil
16.
Arch Surg ; 123(5): 660-1, 1988 May.
Artigo em Inglês | MEDLINE | ID: mdl-3358693

RESUMO

Nine patients with hemangiomas of the liver were treated by enucleation between 1976 and 1985 at the Surgical Department of Istanbul (Turkey) Medical School. The tumors were removed by dissecting the plane between the capsule of the hemangioma and normal liver tissue. The diameters of the tumors ranged from 8 to 23 cm. There was no mortality and no massive bleeding. It is suggested that hemangiomas can be removed by an enucleation technique with low mortality and morbidity, rather than by liver resection.


Assuntos
Hemangioma/cirurgia , Neoplasias Hepáticas/cirurgia , Adulto , Feminino , Hemangioma/patologia , Humanos , Neoplasias Hepáticas/patologia , Masculino , Métodos , Pessoa de Meia-Idade
17.
J Gastroenterol ; 30(6): 745-50, 1995 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8963392

RESUMO

We investigated the clinical and laboratory findings of hypogonadism and feminization in male patients with viral or alcoholic cirrhosis to determine whether chronic liver disease plays a primary role in the development of sexual dysfunction and hormonal changes. Two groups of male patients with liver cirrhosis (23 alcoholic, 33 viral) age- and Child's grade-matched, and 20 age-matched healthy men, as a control group, were included in this study. Clinical signs of hypogonadism and feminization were examined in the cirrhotic patients. Follicle-stimulating hormone, luteinizing hormone, prolactin, testosterone, free testosterone, estradiol, androstenedione, dehydroepiandrosterone sulfate, and sex hormone-binding globulin were estimated in all groups. Seminal fluid was also analyzed in 7 alcoholic and 15 viral cirrhotics. Serum levels of estradiol, androstenedione, and sex hormone-binding globulin were significantly higher, and free testosterone and dehydroepiandrosterone sulfate levels were significantly lower in both groups of cirrhotics compared with the control group. Child's C patients in both groups of cirrhotics were found to have higher estradiol and lower free testosterone levels than child's A and B patients. Alcoholic and viral cirrhotics had markedly reduced sperm motility and density. The differences between alcoholic and viral cirrhotic patients in the clinical signs of hypogonadism, serum levels of sex steroids, and the results of seminal fluid analysis were not statistically significant. These findings suggest that liver cirrhosis per se, independent of etiology, causes hypogonadism and feminization, and that the degree of hypogonadism and feminization correlates well with the severity of liver failure.


Assuntos
Feminização/etiologia , Hipogonadismo/etiologia , Cirrose Hepática Alcoólica/complicações , Cirrose Hepática/complicações , Cirrose Hepática/virologia , Adulto , Estudos de Casos e Controles , Feminização/diagnóstico , Hormônios Esteroides Gonadais/sangue , Hepatite Viral Humana/complicações , Humanos , Hipogonadismo/diagnóstico , Masculino , Pessoa de Meia-Idade , Oligospermia/diagnóstico , Oligospermia/etiologia , Sêmen/citologia , Globulina de Ligação a Hormônio Sexual/análise
18.
Diabetes Res Clin Pract ; 56(3): 189-96, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11947966

RESUMO

Alström syndrome is a rare cause of diabetes mellitus. We studied two generations of a Turkish family in whom four members were affected by Alström syndrome. The natural course of the syndrome in three sisters was followed for 13 yr. The three sisters had short stature and truncal obesity, and developed complete blindness due to retinitis pigmentosa at 10, 5 and 13 yr of age. Two had sensorineural hearing loss and mild mental retardation, while the other developed diabetic ketoacidosis (DKA) at 14 yr and was treated with insulin from onset of diabetes. In the second case, diagnosis of diabetes was made by an OGTT at age 20 yr, and controlled with diet alone for 11 yr, then with a sulphonylurea for 2.5 yr, then with insulin. The third case developed acute hyperglycaemia at 20 yr, and required insulin from onset. Moreover, transitional features of impaired carbohydrate and fat metabolism (severe hyperinsulinaemia and insulin resistance progressing to islet beta cell failure, and hypertriglyceridaemia with fatty liver) were demonstrated, in accord with the literature. Previously unreported findings characteristic of nephro-uropathy with early-onset hypertension were also detected, and included in all cases proteinuria, glomerulopathy, and abnormal locations of the kidneys, narrowed uretero-renal junctions and dilated ureters.


Assuntos
Anormalidades Múltiplas/genética , Diabetes Mellitus/genética , Resistência à Insulina , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Criança , Diabetes Mellitus/fisiopatologia , Cetoacidose Diabética/genética , Cetoacidose Diabética/fisiopatologia , Feminino , Humanos , Núcleo Familiar , Linhagem , Turquia
19.
Am J Surg ; 179(4): 304-8, 2000 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10875991

RESUMO

BACKGROUND: The operations with proven effects on survival in Budd-Chiari syndrome are shunt operations and liver transplantation. PATIENTS AND METHODS: Between 1993 and 1999 (June), 13 cases of Budd-Chiari syndrome have been treated surgically. Four cases had concomitant thrombosis of the inferior vena cava; the others had marked narrowing of the lumen due to the enlarged caudate lobe. Mesoatrial (n = 12) or mesosuperior vena caval (n = 1) shunts were constructed with ringed polytetrafluoroethylene grafts. RESULTS: The median portal pressure fell from 45 (range 32 to 55) to 20 (range 11 to 27) cm H(2)O (P <0.001). Two patients died in the early postoperative period. One patient who did not comply with anticoagulant treatment had a shunt thrombosis in the second postoperative year. The other 10 patients are alive without problems during a median 42 (range 1 to 76) months of follow-up. CONCLUSION: Mesoatrial shunt with a ringed polytetrafluoroethylene graft is effective in Budd-Chiari syndrome cases with thrombosis or significant stenosis in the inferior vena cava.


Assuntos
Síndrome de Budd-Chiari/cirurgia , Veias Mesentéricas/cirurgia , Derivação Portossistêmica Cirúrgica/métodos , Veia Cava Inferior/cirurgia , Veia Cava Superior/cirurgia , Adolescente , Adulto , Prótese Vascular , Implante de Prótese Vascular/métodos , Síndrome de Budd-Chiari/diagnóstico , Doença Crônica , Feminino , Seguimentos , Átrios do Coração/cirurgia , Humanos , Masculino , Politetrafluoretileno , Fatores de Tempo
20.
Eur J Gastroenterol Hepatol ; 9(1): 71-6, 1997 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9031903

RESUMO

OBJECTIVE: To investigate the prevalence of spontaneous ascitic infection (SAI) in different cirrhotic groups, the risk factors for development of SAI, and the efficacy of cefotaxime therapy. DESIGN: A prospective study. SETTING: In-patient clinic of a university hospital. PATIENTS: Eighty cirrhotic patients with ascites were assigned to four groups: hepatitis B or D virus-related 34, alcoholic 18, hepatitis C virus-related 14, miscellaneous 14. INTERVENTIONS: Paracentesis was performed on 80 patients during 92 consecutive hospitalizations. Ascitic fluid was cultured by the method of bedside inoculation of blood culture bottles with ascites. The patients with SAI were treated with cefotaxime (2 g, three times daily, intravenously) for 5 days. MAIN OUTCOME MEASURES: Frequency of SAI in cirrhotic groups; clinical, bacteriological and biochemical findings of SAI; rate of recovery-from infection. RESULTS: Twenty SAI episodes (22%) were found in 16 patients; 8 episodes were spontaneous bacterial peritonitis, 2 bacterascites, and 10 culture-negative neutrocytic ascites. SAI occurred more frequently in patients with hepatitis B or D virus-related liver cirrhosis (32%) than in the alcoholic (6%, P < 0.05), hepatitis C virus-related (14%) or miscellaneous (14%) cirrhotic groups in multivariate analysis, independent predictive factors associated with the development of SAI are chronic hepatitis B virus infection, ascitic fluid total protein and serum bilirubin. Escherichia coli was obtained in 5 of 10 positive ascitic fluid cultures. Cure of the infection was achieved in 95% of episodes. Hospitalization mortality rate in infected patients was 20%. CONCLUSION: Spontaneous ascitic infection occurs in approximately 20% of cirrhotic patients hospitalized with ascites. The patients with low ascitic protein concentration, high serum bilirubin level or hepatitis B virus cirrhosis are more predisposed to SAI. Cefotaxime may be an effective first-choice antibiotic for ascitic fluid infection.


Assuntos
Infecções Bacterianas/etiologia , Cefotaxima/uso terapêutico , Cefalosporinas/uso terapêutico , Cirrose Hepática/complicações , Peritonite/microbiologia , Adulto , Líquido Ascítico/microbiologia , Bactérias/isolamento & purificação , Infecções Bacterianas/tratamento farmacológico , Infecções Bacterianas/epidemiologia , Cefotaxima/administração & dosagem , Cefalosporinas/administração & dosagem , Feminino , Mortalidade Hospitalar , Humanos , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Peritonite/tratamento farmacológico , Peritonite/epidemiologia , Prevalência , Estudos Prospectivos , Recidiva , Fatores de Risco , Resultado do Tratamento , Turquia/epidemiologia
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