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1.
Eur Radiol ; 31(10): 7529-7539, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33770247

RESUMO

OBJECTIVES: To quantify the proportion of fat within the skeletal muscle as a measure of muscle quality using dual-energy CT (DECT) and to validate this methodology with MRI. METHODS: Twenty-one patients with abdominal contrast-enhanced DECT scans (100 kV/Sn 150 kV) underwent abdominal 3-T MRI. The fat fraction (DECT-FF), determined by material decomposition, and HU values on virtual non-contrast-enhanced (VNC) DECT images were measured in 126 regions of interest (≥ 6 cm2) within the posterior paraspinal muscle. For validation, the MR-based fat fraction (MR-FF) was assessed by chemical shift relaxometry. Patients were categorized into groups of high or low skeletal muscle mean radiation attenuation (SMRA) and classified as either sarcopenic or non-sarcopenic, according to the skeletal muscle index (SMI) and cut-off values from non-contrast-enhanced single-energy CT. Spearman's and intraclass correlation, Bland-Altman analysis, and mixed linear models were employed. RESULTS: The correlation was excellent between DECT-FF and MR-FF (r = 0.91), DECT VNC HU and MR-FF (r = - 0.90), and DECT-FF and DECT VNC HU (r = - 0.98). Intraclass correlation between DECT-FF and MR-FF was good (r = 0.83 [95% CI 0.71-0.90]), with a mean difference of - 0.15% (SD 3.32 [95% CI 6.35 to - 6.66]). Categorization using the SMRA yielded an eightfold difference in DECT VNC HU values between both groups (5 HU [95% CI 23-11], 42 HU [95% CI 33-56], p = 0.05). No significant relationship between DECT-FF and SMI-based classifications was observed. CONCLUSIONS: Fat quantification within the skeletal muscle using DECT is both feasible and reliable. DECT muscle analysis offers a new approach to determine muscle quality, which is important for the diagnosis and therapeutic monitoring of sarcopenia, as a comorbidity associated with poor clinical outcome. KEY POINTS: • Dual-energy CT (DECT) material decomposition and virtual non-contrast-enhanced DECT HU values assess muscle fat reliably. • Virtual non-contrast-enhanced dual-energy CT HU values allow to differentiate between high and low native skeletal muscle mean radiation attenuation in contrast-enhanced DECT scans. • Measuring muscle fat by dual-energy computed tomography is a new approach for the determination of muscle quality, an important parameter for the diagnostic confirmation of sarcopenia as a comorbidity associated with poor clinical outcome.


Assuntos
Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Abdome , Humanos , Músculo Esquelético/diagnóstico por imagem , Reprodutibilidade dos Testes
2.
Eur Radiol ; 30(5): 2830-2842, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31953666

RESUMO

OBJECTIVES: Diffusion tensor magnetic resonance imaging (DTI) and T2 mapping enable the detection of exercise-induced changes in the skeletal muscle microenvironment. This study prospectively quantified DTI metrics and T2 relaxation times of thigh muscles in competitive triathletes at rest and following a triathlon race in comparison with sedentary controls. METHODS: Twenty-two triathletes (males N = 16, females N = 6) and twenty-three controls (males N = 16, females N = 7) underwent magnetic resonance imaging (MRI) on a 3 T system at baseline (time point 1; 72 h at rest). Twelve triathletes (males N = 8, females N = 4) underwent a second scan (time point 2; 3 h of completing a triathlon race). The tensor eigenvalues (λ1, λ2, λ3), mean diffusivity (MD), fractional anisotropy (FA), and T2 times were compared between controls and triathletes at time point 1 and triathletes at time points 1 and 2 using independent and paired t tests. RESULTS: In comparison with the controls at time point 1, the T2 times of rectus femoris (RF, p < 0.02), adductor magnus (AM, p = 0.02), biceps femoris (BF, p < 0.001), semitendinosus (ST, p = 0.005), and semimembranosus (SM, p = 0.003) muscles were significantly increased in triathletes. At time point 2 in triathletes, the average tensor metrics (MD, λ3/ λ1) of BF, ST, and SM muscles increased (p < 0.05) and FA values in ST and SM muscles decreased (p < 0.03). T2 times were not significantly changed between both time points in triathletes. CONCLUSION: Our results indicate that this multiparametric MRI protocol allows detection and quantification of changes in the skeletal muscle microenvironment caused by endurance training and acute strenuous exercise. KEY POINTS: • Endurance training results in changes to the skeletal microstructure, which can be quantified using MRI-based diffusion tensor imaging. • The combined application of MRI diffusion tensor imaging and T2 mapping allows the differentiation of microstructural changes caused by active exercise or endurance training. • Environmental adaptations of the skeletal muscle caused by physical training are influenced by gender.


Assuntos
Atletas/estatística & dados numéricos , Imagem de Tensor de Difusão/métodos , Tolerância ao Exercício/fisiologia , Exercício Físico/fisiologia , Músculo Esquelético/anatomia & histologia , Coxa da Perna/anatomia & histologia , Adulto , Feminino , Humanos , Masculino , Estudos Prospectivos
3.
Am J Otolaryngol ; 40(4): 512-519, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31006501

RESUMO

OBJECTIVE: We aim to investigate hearing sensitivity and wideband tympanometry results in bone cement ossiculoplasty cases in present study. STUDY DESIGN: A prospective study. SETTING: Ossiculoplasty patients were grouped according to the anatomical location of bone cement application by surgery note. Ossiculoplasty and tympanoplasty patients were retrospectively invited to the clinic and evaluated. 30 bone cement ossiculoplasty cases as well as 30 Type I tympanoplasty cases (intact ossicular chain) and 30 healthy controls were included in the study and Wideband Tympanometry was performed. Tympanometric peak pressure, equivalent middle ear volume, static admittance, tympanogram width, resonance frequency, average wideband tympanometry and absorbance measurements were analyzed. RESULTS: A statistically significant improvement was observed in the hearing levels of all ossiculoplasty and type I tympanoplasty patients (p < 0.05). Bone cement ossiculoplasty groups demonstrated the remarkable differences than the type I tympanoplasty and control group in Wideband Tympanometry test parameters. In some parameters, malleus-stapes and manubriostapedioplasty groups demonstrated similarities to Type I tympanoplasty and control groups. CONCLUSION: Bone cement is an effective application for ossiculoplasty. Wideband tympanometry is a promising method for the evaluation of the middle ear dynamics.


Assuntos
Testes de Impedância Acústica/métodos , Cimentos Ósseos , Ossículos da Orelha/cirurgia , Orelha Média/fisiopatologia , Audição , Timpanoplastia/métodos , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
4.
Front Cardiovasc Med ; 11: 1355033, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38374995

RESUMO

Introduction: Fabry's disease is an X-linked lysosomal storage disorder caused by reduced activity of α-galactosidase A (GAL), leading to premature death on account of renal, cardiac, and vascular organ failure. Accumulation of the GAL substrate globotriaosylceramide (Gb3) in endothelial and smooth muscle cells is associated with early vascular cell damage, suggesting endothelial dysfunction as a driver of cardiorenal organ failure. Here, we studied the vascular expression of the key angiogenic factors, VEGFα and its antagonist angiostatin, in Fabry α-GAL-Tg/KO mice and determined circulating VEGFα and angiostatin serum levels in patients with Fabry's disease and healthy controls. Methods: Cryopreserved aortic vessels from six α-GAL-Tg/KO and six wild-type (WT) mice were obtained and VEGFα and angiostatin levels were determined by performing Western blot analysis. VEGFα expression was visualized by an immunohistochemical staining of paraffin aortic rings. In addition, VEGFα and angiostatin serum levels were measured by using an enzyme-linked immunosorbent assay in 48 patients with genetically verified Fabry's disease (50% male) and 22 healthy controls and correlated with disease severity markers such as lyso-Gb3, albuminuria, NTproBNP, high-sensitive troponin T (hsTNT), and myocardial wall thickness. Results: It was found that there was a significant increase in VEGFα protein expression (1.66 ± 0.35 vs. 0.62 ± 0.16, p = 0.0009) and a decrease in angiostatin expression (0.024 ± 0.007 vs. 0.053 ± 0.02, p = 0.038) in aortic lysates from α-GAL-Tg/KO compared with that from WT mice. Immunohistochemical staining revealed an adventitial VEGFα signal in α-GAL-Tg/KO mice, whereas no VEGFα signal could be detected in WT mice aortas. No differences in aortic angiostatin expression between α-GAL-Tg/KO- and WT mice could be visualized. The serum levels of VEGFα were significantly upregulated in patients with Fabry's disease compared with that in healthy controls (708.5 ± 426.3 vs. 458.5 ± 181.5 pg/ml, p = 0.048) and positively associated with albuminuria (r = 0.82, p < 0.0001) and elevated NTproBNP (r = 0.87, p < 0.0001) and hsTNT values (r = 0.41, p = 0.048) in male patients with Fabry's disease. For angiostatin, no significant difference was found between patients with Fabry's disease and healthy controls (747.6 ± 390.3 vs. 858.8 ± 599.3 pg/ml). Discussion: In conclusion, an overexpression of VEGFα and downregulation of its counter player angiostatin in aortic tissue of α-GAL-Tg/KO mice support the hypothesis of an underlying vasculopathy in Fabry's disease. Elevated VEGFα serum levels were also observed in patients with Fabry's disease and were positively associated with elevated markers of organ manifestation in males. These findings suggest that angiogenetic markers, such as VEGFα, may be potentially useful biomarkers for the detection of endothelial dysfunction in classical Fabry's disease.

5.
Eur Rev Med Pharmacol Sci ; 26(5): 1601-1606, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35302206

RESUMO

OBJECTIVE: This study aims to determine the voice and gastrointestinal system changes of patients with hyperemesis gravidarum in the first trimester and to compare them with healthy pregnant women. PATIENTS AND METHODS: This study was conducted prospectively. Two groups were defined as hyperemesis and healthy pregnant women. All the participants in the groups are between 20-42 years old and 6-12 weeks pregnant. Voice evaluation of all participants was made with the voice handicap index-10 (VHI-10). The Eating Assessment Tool-10 (EAT-10) was used for Dysphagia evaluation. The groups were compared, and the significance level was determined as p<.05. RESULTS: In terms of mean age and week of gestation, both groups were matched. There was a statistically significant difference in total VHI-10 between the control and HG group. In terms of the EAT-10 on the other hand subjective swallowing problem, higher scores (more problematic) were observed in the HG group. There was no statistically significant correlation between age and VHI-10, VHI-10 sub-scores, or EAT-10. CONCLUSIONS: Compared to healthy pregnant women, hyperemesis gravidarum affects the voice quality negatively and increases gastrointestinal complaints. Although these are shown with subjective parameters in this study, there is a need for studies that will make an objective evaluation.


Assuntos
Transtornos de Deglutição , Hiperêmese Gravídica , Adulto , Deglutição , Feminino , Humanos , Gravidez , Gestantes , Adulto Jovem
6.
Int J Cardiovasc Imaging ; 38(9): 2003-2012, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37726601

RESUMO

Follow-up after acute myocarditis is important to detect persisting myocardial dysfunction. However, recovery of atrial function has not been evaluated after acute myocarditis so far. Thirty-five patients with strictly defined acute myocarditis underwent cardiovascular magnetic resonance (CMR, 1.5 T) in the acute stage at baseline (BL) and at 3 months follow-up (FU). The study population included 13 patients with biopsy-proven "cardiomyopathy-like" myocarditis (CLM) and 22 patients with "infarct-like" (ILM) clinical presentation. CMR feature tracking (FT) was performed on conventional cine SSFP sequences. Median LA-GLS increased from 33.2 (14.5; 39.2) at BL to 37.0% (25.2; 44.1, P = 0.0018) at FU in the entire study population. Median LA-GLS also increased from 36.7 (26.5; 42.3) at BL to 41.3% (34.5; 44.8, P = 0.0262) at FU in the ILM subgroup and from 11.3 (6.4; 21.1) at BL to 21.4% (14.2; 30.7, P = 0.0186) at FU in the CLM subgroup. Median RA-GLS significantly increased from BL with 30.8 (22.5; 37.0) to FU with 33.7% (26.8; 45.4, P = 0.0027) in the entire study population. Median RA-GLS also significantly increased from 32.7 (25.8; 41.0) at BL to 35.8% (27.7; 48.0, P = 0.0495) at FU in the ILM subgroup and from 22.8 (13.1; 33.9) at BL to 31.0% (26.0; 40.8, P = 0.0266) at FU in the CLM subgroup. Our findings demonstrate recovery of LA and RA function by CMR-FT strain analyses in patients after acute myocarditis independent from clinical presentation. Monitoring of atrial strain could be an important tool for an individual assessment of healing after acute myocarditis.


Assuntos
Miocardite , Humanos , Miocardite/diagnóstico por imagem , Valor Preditivo dos Testes , Imageamento por Ressonância Magnética , Função Atrial , Espectroscopia de Ressonância Magnética
7.
J Trop Pediatr ; 57(5): 396-8, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21051467

RESUMO

Patients with type 1 diabetes (T1D) are at increased risk for developing other autoimmune diseases, most commonly autoimmune thyroiditis and celiac disease. Few reports have described the association of systemic lupus erythematosus and T1D in the literature. To the best of our knowledge, this is the first report of lupus nephritis in a child with T1D.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Nefrite Lúpica/complicações , Adolescente , Feminino , Humanos , Nefrite Lúpica/diagnóstico
8.
J Laryngol Otol ; 134(6): 509-518, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32508296

RESUMO

OBJECTIVE: To determine the prevalence and distribution of inner-ear malformations in congenital single-sided deafness cases, as details of malformation type are crucial for disease prognosis and management. METHODS: A retrospective study was conducted of 90 patients aged under 16 years with congenital single-sided deafness. Radiological findings were evaluated using computed tomography and magnetic resonance imaging. Inner-ear malformations were identified and cochlear nerve status was determined in affected ears. RESULTS: Out of 90 ears, 42 (46.7 per cent) were found to have inner-ear malformation. Isolated cochlear aperture stenosis was the most common anomaly (n = 18, 20 per cent), followed by isolated cochlear aperture atresia (n = 11, 12.2 per cent) and cochlear hypoplasia (n = 7, 7.8 per cent). Cochlear nerve deficiency was encountered in 41 ears (45.6 per cent). The internal auditory canal was also stenotic in 49 ears (54.4 per cent). CONCLUSION: Inner-ear malformations, especially cochlear aperture anomalies, are involved in the aetiology of single-sided deafness more than expected. The cause of single-sided deafness differs greatly between congenital and adult-onset cases. All children with single-sided deafness should undergo radiological evaluation, as the prognosis and management, as well as the aetiology, may be significantly influenced by inner-ear malformation type.


Assuntos
Cóclea/patologia , Surdez/etiologia , Orelha Interna/anormalidades , Doenças do Labirinto/congênito , Adolescente , Criança , Pré-Escolar , Cóclea/anormalidades , Cóclea/inervação , Nervo Coclear/anormalidades , Nervo Coclear/fisiopatologia , Constrição Patológica/patologia , Surdez/diagnóstico , Orelha Interna/diagnóstico por imagem , Orelha Interna/patologia , Feminino , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Lactente , Doenças do Labirinto/epidemiologia , Imageamento por Ressonância Magnética/métodos , Masculino , Prevalência , Prognóstico , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Doenças do Nervo Vestibulococlear/congênito , Doenças do Nervo Vestibulococlear/epidemiologia
9.
APMIS ; 116(2): 167-72, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18321371

RESUMO

We report two cases of thyroidal plasma cell granuloma. Both patients underwent surgical resection after presenting with painless neck swelling. Histopathologic examination of the specimens revealed plasmacytes infiltrating the thyroid parenchyma and immunohistochemical studies showed the polyclonal nature of the plasma cells. Plasma cell granuloma is a benign lesion and its appearance in the thyroid gland is extremely rare. Eleven prior cases with thyroid localization have been reported to date in the English literature. Nine of the plasma cell granuloma cases occurred in women, four in men (including the present cases). The clinicopathologic features and diagnostic difficulties of this rare entity are described, and its relation to inflammatory pseudotumor of other sites is discussed with a review of the literature.


Assuntos
Granuloma de Células Plasmáticas/patologia , Neoplasias da Glândula Tireoide/patologia , Adulto , Idoso , Feminino , Granuloma de Células Plasmáticas/cirurgia , Humanos , Imuno-Histoquímica , Masculino , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia
10.
Saudi Med J ; 28(8): 1222-6, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17676206

RESUMO

OBJECTIVE: To investigate the status of oxidative stress in children with Helicobacter pylori (HP) infection and their relationship with inflammatory parameters. METHODS: At the Pediatric Gastroenterology Department of Erciyes University, Kayseri, Turkey, between January 2004 to August 2005, 39 children undergoing upper gastrointestinal endoscopy were investigated for malondialdehyde (MDA) levels and superoxide dismutase (SOD) activity in gastric tissue and erythrocytes, and presence of HP infection by means of histology. RESULTS: There is an increase of the oxidative stress parameter, MDA, in gastric tissue, but not in erythrocytes in HP (+) patients. The antioxidant enzyme, SOD, levels both in gastric tissue and erythrocytes were not different between HP (+) and HP (-) patients. In 8 HP infected children after treatment with an anti-HP regimen, no change was observed except for tissue SOD activity, which is increased after therapy. No correlation was observed between histological findings and tissue, and erythrocyte MDA levels and SOD activities. CONCLUSION: Oxidative stress has some role in tissue damage in HP infection in children.


Assuntos
Gastroenteropatias/metabolismo , Infecções por Helicobacter/metabolismo , Helicobacter pylori , Malondialdeído/metabolismo , Estresse Oxidativo/fisiologia , Superóxido Dismutase/metabolismo , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Gastroenteropatias/complicações , Gastroenteropatias/patologia , Infecções por Helicobacter/complicações , Infecções por Helicobacter/patologia , Humanos , Masculino
11.
J Laryngol Otol ; 131(8): 676-683, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28566097

RESUMO

OBJECTIVES: The bony cochlear nerve canal is the space between the fundus of the internal auditory canal and the base of the cochlear modiolus that carries cochlear nerve fibres. This study aimed to determine the distribution of bony labyrinth anomalies and cochlear nerve anomalies in patients with bony cochlear nerve canal and internal auditory canal atresia and stenosis, and then to compare the diameter of the bony cochlear nerve canal and internal auditory canal with cochlear nerve status. METHODS: The study included 38 sensorineural hearing loss patients (59 ears) in whom the bony cochlear nerve canal diameter at the mid-modiolus was 1.5 mm or less. Atretic and stenotic bony cochlear nerve canals were examined separately, and internal auditory canals with a mid-point diameter of less than 2 mm were considered stenotic. Temporal bone computed tomography and magnetic resonance imaging scans were reviewed to determine cochlear nerve status. RESULTS: Cochlear hypoplasia was noted in 44 out of 59 ears (75 per cent) with a bony cochlear nerve canal diameter at the mid-modiolus of 1.5 mm or less. Approximately 33 per cent of ears with bony cochlear nerve canal stenosis also had a stenotic internal auditory canal and 84 per cent had a hypoplastic or aplastic cochlear nerve. All patients with bony cochlear nerve canal atresia had cochlear nerve deficiency. The cochlear nerve was hypoplastic or aplastic when the diameter of the bony cochlear nerve canal was less than 1.5 mm and the diameter of the internal auditory canal was less than 2 mm. CONCLUSION: The cochlear nerve may be aplastic or hypoplastic even if temporal bone computed tomography findings indicate a normal cochlea. If possible, patients scheduled to receive a cochlear implant should undergo both computed tomography and magnetic resonance imaging of the temporal bone. The bony cochlear nerve canal and internal auditory canal are complementary structures, and both should be assessed to determine cochlear nerve status.


Assuntos
Cóclea/anormalidades , Nervo Coclear/patologia , Meato Acústico Externo/patologia , Perda Auditiva Neurossensorial/patologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Cóclea/diagnóstico por imagem , Nervo Coclear/anormalidades , Nervo Coclear/diagnóstico por imagem , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/patologia , Meato Acústico Externo/diagnóstico por imagem , Feminino , Perda Auditiva Neurossensorial/diagnóstico por imagem , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto Jovem
12.
Eur Heart J Cardiovasc Imaging ; 18(7): 744-751, 2017 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-28329275

RESUMO

AIMS: Monitoring disease activity in myocarditis is important for tailored therapeutic strategies. This study evaluated the ability of T1 and T2 mapping cardiovascular magnetic resonance (CMR) to monitor the course of myocardial inflammation in healing myocarditis. METHODS AND RESULTS: Forty-eight patients with strictly defined acute myocarditis underwent CMR at 1.5 T in the acute stage, at 3-months (n = 39), and at 12-months follow-up (FU) (n = 21). Normal values were obtained in a control group of 27 healthy subjects. The CMR protocol included standard ('Lake-Louise') sequences as well as T1 (modified Look-Locker inversion recovery sequence, MOLLI) and T2 (gradient- and spin-echo sequence, GraSE) mapping. T1, T2, and extracellular volume (ECV) maps were generated using an OsiriX plug-in. Native myocardial T1, T2, and ECV values were increased in the acute stage, but declined with healing of myocarditis. The performances of global native T1 and T2 to differentiate acute from healed myocarditis stages were significantly better compared with all other global CMR parameters with AUCs of 0.85 (95% CI, 0.76-0.94) and 0.83 (95% CI, 0.73-0.93). Furthermore, regional native T1 and T2 in myocarditis lesions provided AUCs of 0.97 (95% CI, 0.93-1.02) and 0.93 (95% CI, 0.85-1.01), which were significantly superior to any other global or regional CMR parameter. CONCLUSION: Healing of myocarditis can be monitored by native myocardial T1 and T2 measurements without the need for contrast media. Both native myocardial T1 and T2 provide an excellent performance for assessing the stage of myocarditis by CMR.


Assuntos
Interpretação de Imagem Assistida por Computador/métodos , Imagem Cinética por Ressonância Magnética/métodos , Miocardite/diagnóstico por imagem , Miocardite/fisiopatologia , Idoso , Área Sob a Curva , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Recuperação de Função Fisiológica , Valores de Referência , Índice de Gravidade de Doença
13.
Am J Med Genet ; 96(3): 285-8, 2000 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-10898901

RESUMO

Biochemical and genetic studies of attention deficit hyperactivity disorder (ADHD) suggest that regulation of catecholamine neurotransmission is a key factor in the aetiology of the disorder. In particular, it is postulated that an underactive dopamine system is associated with the disorder. In this study we have tested this hypothesis by screening a clinical sample of Turkish children with the combined subtype of ADHD with a functional variant of catecholamine-methyl-transferase (COMT) that codes for high- and low-activity variants of the enzyme. Using within-family tests of association and linkage in a sample of 72 children, we found no evidence for a genetic association or linkage. We conclude that altered regulation of catecholamines due to this polymorphism does not have a significant main effect on the risk for ADHD in this population. However, it remains feasible that more minor effects or interacting effects with other genes or environment exist.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/enzimologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Catecol O-Metiltransferase/genética , Alelos , Criança , Haplótipos , Humanos , Desequilíbrio de Ligação , Fatores de Risco , Sequências de Repetição em Tandem , Turquia
14.
Psychiatr Genet ; 7(2): 57-74, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9285963

RESUMO

Both direct and indirect evidence implicate excitatory amino acid neurotransmission in the aetiology of schizophrenia. The data are particularly suggestive for N-methyl-D-aspartate (NMDA) neurotransmission. Four of the six genes coding for subunits of the neural NMDA receptor have been mapped. We have studied segregation and allele sharing of markers in these four regions in a sample of southern African Bantu-speaking families multiply affected with DSM-III-R schizophrenia. This population was chosen because anthropological and linguistic data suggest that it has diverged from a small initial population within the past 1000 years, making shared genetic aetiology more likely. We find positive LOD score maxima of 0.876 at a marker D9S1838 on chromosome 9q34.3 near the NMDAR1 central subunit gene, 0.758 at marker D17S784 on chromosome 17q25 near the NMDAR2C potentiating subunit gene, and 0.453 at marker D12S77 near the NMDAR2B gene on chromosome 12p12 when analysing affected samples only. Only the region of NMDAR2A, on chromosome 16p13, can be excluded in this population. There is evidence of increased allele sharing on chromosomes 9p34.3 and 17q25 using APM. Multipoint allele-sharing analysis using GENEHUNTER does not reject possible effects on chromosome 9q34.3, but does not support any involvement of chromosome 17q25. We propose that the NMDA receptor may be involved in the genetic predisposition to schizophrenia in this population through covariation in several of the subunits, which is consistent with the genetic models of the inheritance of the disease.


Assuntos
População Negra/genética , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 17 , Cromossomos Humanos Par 9 , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia/genética , África Austral , Mapeamento Cromossômico , Feminino , Ligação Genética , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Linhagem , Estatísticas não Paramétricas
15.
Pathol Oncol Res ; 8(4): 262-9, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12579213

RESUMO

During the period of 1996-1998 ninety-four gastrectomy specimens with gastric carcinoma referred to Erciyes University, Medical Faculty, Department of Pathology, were examined histopathologically, histochemically and immunohistochemically. General characteristics of gastric carcinomas and prognostic factors were studied. According the Lauren classification, of the 94 cases of gastric carcinomas, 56 were intestinal type, 21 were diffuse type and 17 were mixed type carcinoma. The association rates of Helicobacter pylori, chronic atrophic gastritis and intestinal metaplasia with gastric carcinomas were high. There was strong immunorectivity with HSP70 in 62,5% of the intestinal type carcinomas. This ratios were lower in diffuse and mixed type carcinomas (p<0.05). The more tumor size and invasion depth increased, the more HSP70 immunoreactivity was obtained (p<0.05). HSP70 immunorectivity was considerably higher in the patients having lymph node metastasis and vascular invasion (p<0.05). It was found that the NK cell number was low in the tumor but higher around the tumor in early gastric carcinomas, compared with advanced carcinomas (p>0.05). In the tumors larger than 10 cm with vascular invasion, NK cell number was lower around the tumor (p>0.05). Defining prognostic factors of gastric carcinomas is of importance to clinicians. It is thought that HSP70 immunoreactivity, besides invasion depth, lymph node metastasis, vascular invasion, tumor size and inflammatory reaction against the tumor, is important in prognosis and associated with advanced stage.


Assuntos
Proteínas de Choque Térmico HSP70/análise , Células Matadoras Naturais/imunologia , Neoplasias Gástricas/imunologia , Neoplasias Gástricas/patologia , Mucosa Gástrica/patologia , Gastrite Atrófica/epidemiologia , Infecções por Helicobacter/epidemiologia , Helicobacter pylori , Humanos , Imuno-Histoquímica , Metástase Linfática , Invasividade Neoplásica , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Neoplasias Gástricas/classificação
18.
Pediatr Pulmonol ; 43(7): 710-3, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18496859

RESUMO

Pulmonary alveolar proteinosis (PAP) is characterized by the accumulation of surfactant derived material in the lung of patients. PAP is rare in children. The patient presented with respiratory failure. In the history she was diagnosed with agammaglobulinemia at 8 months of age and has been treated by IVIG once in a month. She had two pulmonary alveolary proteinosis attacks before. Chest X-ray showed bilateral diffuse infiltrates. Initial diagnosis were pneumonia, ARDS, and lung edema. Whole-lung lavage revealed lipoproteinaceous material similar to surfactant. This findings and high level of LDH was as evaluated pulmonary alveolary proteinosis. She discharged from the hospital without any respiratory complication on the ninth day. This is the first case report recurrent PAP associated with agammaglobulinemia.


Assuntos
Agamaglobulinemia/complicações , Proteinose Alveolar Pulmonar/etiologia , Proteinose Alveolar Pulmonar/patologia , Adolescente , Lavagem Broncoalveolar , Feminino , Humanos , Proteinose Alveolar Pulmonar/diagnóstico por imagem , Radiografia , Recidiva
19.
J Vasc Surg ; 47(1): 157-165, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18060732

RESUMO

OBJECTIVE: A significant increase in the frequency of inferior vena cava (IVC) filter placement at our large community-based academic health center led us to evaluate changes in indications, devices, and providers over the past decade. METHODS: A single-center retrospective review of all filter placements was performed comparing 76 patients in 1995 with 470 patients in 2005. Demographic data, provider data, filter type, and indications for placement were tabulated. Complications, follow-up evaluation, filter removal, and patient outcomes were examined. RESULTS: There was a greater than sixfold increase in the number of filters placed in 2005 vs 1995. There were no significant differences in patient demographics or the extent of venous thromboembolic (VTE) disease during this period except for an increase in median age. Filter placement by interventional radiologists remained approximately 50% of the total whereas placement by vascular/trauma surgeons increased to 24% and placement by cardiologists decreased to 29% (P < .001). In 2005, a smaller percentage of filters were placed for absolute indications, while filter placements for relative and prophylactic indications increased over the same time period, especially among cardiologists (P = .02). Potentially retrievable filters are increasingly being used for prophylaxis; however, only 2.4% were retrieved. An increasing number of filters were placed in patients with only infrapopliteal deep venous thrombosis (P = .07). A shift was seen to lower profile and removable filter types. Long-term patient follow-up showed little change in disease progression or in morbidity and mortality of filter insertion. CONCLUSIONS: Technological and practice pattern changes have led to an increase in filters inserted by vascular and trauma surgeons in the operating room and intensive care units. Increased diagnosis of VTE disease and newer low profile delivery systems in patients may also have contributed to the significant increase in filter placement. A shift in indications for placement from absolute toward relative indications and prophylaxis is evident over time and across providers, indicating the need for consensus development of appropriate criteria.


Assuntos
Centros Médicos Acadêmicos/tendências , Serviço Hospitalar de Cardiologia/tendências , Serviços de Saúde Comunitária/tendências , Extremidade Inferior/irrigação sanguínea , Radiografia Intervencionista/tendências , Procedimentos Cirúrgicos Vasculares/tendências , Filtros de Veia Cava/tendências , Tromboembolia Venosa/prevenção & controle , Idoso , Remoção de Dispositivo/tendências , Feminino , Humanos , Masculino , Michigan , Pessoa de Meia-Idade , Veia Poplítea/cirurgia , Padrões de Prática Médica/tendências , Desenho de Prótese/tendências , Radiografia Intervencionista/efeitos adversos , Radiografia Intervencionista/instrumentação , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Procedimentos Cirúrgicos Vasculares/instrumentação , Tromboembolia Venosa/diagnóstico por imagem
20.
J Clin Gastroenterol ; 39(6): 508-11, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15942437

RESUMO

BACKGROUND: The aim of this study is to assess the prevalence of unrecognized adult celiac disease in Central Anatolia of Turkey and establish if prevalence figures are similar to other reports in the international literature. METHODS: Subjects were randomly selected from patients at the time of blood sampling because of a routine examination or suspicion of some disorder other than celiac diseases and were screened with anti-tissue transglutaminase IgA and serum IgA measurements. Duodenal biopsies were taken from the patients who were found positive for anti-tissue transglutaminase IgA and had low IgA levels. RESULTS: A total of 906 subjects between 20 and 59 years of age were included. Small bowel biopsies were performed for 55 of the 906 participants. Fifty-two of 55 participants taken biopsies had anti-tissue transglutaminase IgA levels greater than 15 IU/mL and 3 of them had low IgA levels. Celiac disease was diagnosed as 9 of 906 (0.99%). The majority of the patients with celiac disease had nonspecific gastrointestinal symptoms. There was no correlation between the titers of anti-tissue transglutaminase IgA and the severity of histopathologic findings. CONCLUSIONS: In this study, we found that unrecognized adult celiac disease in Central Anatolia affects approximately 1% of the population, and the major constellation of symptoms are nonspecific gastrointestinal related. Serologic data are not adequate for a definite diagnosis, but the anti-tissue transglutaminase IgA test has high diagnostic value and may be used as screening tool. Confirmation with intestinal biopsy is required for a definite diagnosis.


Assuntos
Doença Celíaca/epidemiologia , Adulto , Biópsia , Distribuição de Qui-Quadrado , Feminino , Humanos , Imunoglobulina A/sangue , Masculino , Pessoa de Meia-Idade , Prevalência , Estatísticas não Paramétricas , Turquia/epidemiologia
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