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1.
Eur Radiol ; 31(10): 7529-7539, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33770247

RESUMEN

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.


Asunto(s)
Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Abdomen , Humanos , Músculo Esquelético/diagnóstico por imagen , Reproducibilidad de los Resultados
2.
Eur Radiol ; 30(5): 2830-2842, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31953666

RESUMEN

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.


Asunto(s)
Atletas/estadística & datos numéricos , Imagen de Difusión Tensora/métodos , Tolerancia al Ejercicio/fisiología , Ejercicio Físico/fisiología , Músculo Esquelético/anatomía & histología , Muslo/anatomía & histología , Adulto , Femenino , Humanos , Masculino , Estudios Prospectivos
3.
Am J Otolaryngol ; 40(4): 512-519, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31006501

RESUMEN

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.


Asunto(s)
Pruebas de Impedancia Acústica/métodos , Cementos para Huesos , Osículos del Oído/cirugía , Oído Medio/fisiopatología , Audición , Timpanoplastia/métodos , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Adulto Joven
4.
Front Cardiovasc Med ; 11: 1355033, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38374995

RESUMEN

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.
Artículo en Inglés | MEDLINE | ID: mdl-35302206

RESUMEN

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.


Asunto(s)
Trastornos de Deglución , Hiperemesis Gravídica , Adulto , Deglución , Femenino , Humanos , Embarazo , Mujeres Embarazadas , Adulto Joven
6.
Int J Cardiovasc Imaging ; 38(9): 2003-2012, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37726601

RESUMEN

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.


Asunto(s)
Miocarditis , Humanos , Miocarditis/diagnóstico por imagen , Valor Predictivo de las Pruebas , Imagen por Resonancia Magnética , Función Atrial , Espectroscopía de Resonancia Magnética
7.
J Trop Pediatr ; 57(5): 396-8, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21051467

RESUMEN

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.


Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Nefritis Lúpica/complicaciones , Adolescente , Femenino , Humanos , Nefritis Lúpica/diagnóstico
8.
J Laryngol Otol ; 134(6): 509-518, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32508296

RESUMEN

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.


Asunto(s)
Cóclea/patología , Sordera/etiología , Oído Interno/anomalías , Enfermedades del Laberinto/congénito , Adolescente , Niño , Preescolar , Cóclea/anomalías , Cóclea/inervación , Nervio Coclear/anomalías , Nervio Coclear/fisiopatología , Constricción Patológica/patología , Sordera/diagnóstico , Oído Interno/diagnóstico por imagen , Oído Interno/patología , Femenino , Pérdida Auditiva Sensorineural/congénito , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/epidemiología , Humanos , Lactante , Enfermedades del Laberinto/epidemiología , Imagen por Resonancia Magnética/métodos , Masculino , Prevalencia , Pronóstico , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Enfermedades del Nervio Vestibulococlear/congénito , Enfermedades del Nervio Vestibulococlear/epidemiología
9.
APMIS ; 116(2): 167-72, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18321371

RESUMEN

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.


Asunto(s)
Granuloma de Células Plasmáticas/patología , Neoplasias de la Tiroides/patología , Adulto , Anciano , Femenino , Granuloma de Células Plasmáticas/cirugía , Humanos , Inmunohistoquímica , Masculino , Neoplasias de la Tiroides/cirugía , Tiroidectomía
10.
Saudi Med J ; 28(8): 1222-6, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17676206

RESUMEN

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.


Asunto(s)
Enfermedades Gastrointestinales/metabolismo , Infecciones por Helicobacter/metabolismo , Helicobacter pylori , Malondialdehído/metabolismo , Estrés Oxidativo/fisiología , Superóxido Dismutasa/metabolismo , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Enfermedades Gastrointestinales/complicaciones , Enfermedades Gastrointestinales/patología , Infecciones por Helicobacter/complicaciones , Infecciones por Helicobacter/patología , Humanos , Masculino
11.
J Laryngol Otol ; 131(8): 676-683, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28566097

RESUMEN

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.


Asunto(s)
Cóclea/anomalías , Nervio Coclear/patología , Conducto Auditivo Externo/patología , Pérdida Auditiva Sensorineural/patología , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Cóclea/diagnóstico por imagen , Nervio Coclear/anomalías , Nervio Coclear/diagnóstico por imagen , Constricción Patológica/diagnóstico por imagen , Constricción Patológica/patología , Conducto Auditivo Externo/diagnóstico por imagen , Femenino , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Humanos , Lactante , Imagen por Resonancia Magnética/métodos , Masculino , Hueso Temporal/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adulto Joven
12.
Eur Heart J Cardiovasc Imaging ; 18(7): 744-751, 2017 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-28329275

RESUMEN

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.


Asunto(s)
Interpretación de Imagen Asistida por Computador/métodos , Imagen por Resonancia Cinemagnética/métodos , Miocarditis/diagnóstico por imagen , Miocarditis/fisiopatología , Anciano , Área Bajo la Curva , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Monitoreo Fisiológico/métodos , Valor Predictivo de las Pruebas , Pronóstico , Estudios Prospectivos , Recuperación de la Función , Valores de Referencia , Índice de Severidad de la Enfermedad
13.
Am J Med Genet ; 96(3): 285-8, 2000 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-10898901

RESUMEN

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.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/enzimología , Trastorno por Déficit de Atención con Hiperactividad/genética , Catecol O-Metiltransferasa/genética , Alelos , Niño , Haplotipos , Humanos , Desequilibrio de Ligamiento , Factores de Riesgo , Secuencias Repetidas en Tándem , Turquía
14.
Psychiatr Genet ; 7(2): 57-74, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9285963

RESUMEN

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.


Asunto(s)
Población Negra/genética , Cromosomas Humanos Par 12 , Cromosomas Humanos Par 16 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 9 , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia/genética , África Austral , Mapeo Cromosómico , Femenino , Ligamiento Genético , Marcadores Genéticos , Humanos , Escala de Lod , Masculino , Linaje , Estadísticas no Paramétricas
15.
Pathol Oncol Res ; 8(4): 262-9, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12579213

RESUMEN

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.


Asunto(s)
Proteínas HSP70 de Choque Térmico/análisis , Células Asesinas Naturales/inmunología , Neoplasias Gástricas/inmunología , Neoplasias Gástricas/patología , Mucosa Gástrica/patología , Gastritis Atrófica/epidemiología , Infecciones por Helicobacter/epidemiología , Helicobacter pylori , Humanos , Inmunohistoquímica , Metástasis Linfática , Invasividad Neoplásica , Estadificación de Neoplasias , Pronóstico , Estudios Retrospectivos , Neoplasias Gástricas/clasificación
18.
Pediatr Pulmonol ; 43(7): 710-3, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18496859

RESUMEN

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.


Asunto(s)
Agammaglobulinemia/complicaciones , Proteinosis Alveolar Pulmonar/etiología , Proteinosis Alveolar Pulmonar/patología , Adolescente , Lavado Broncoalveolar , Femenino , Humanos , Proteinosis Alveolar Pulmonar/diagnóstico por imagen , Radiografía , Recurrencia
19.
J Vasc Surg ; 47(1): 157-165, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18060732

RESUMEN

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.


Asunto(s)
Centros Médicos Académicos/tendencias , Servicio de Cardiología en Hospital/tendencias , Servicios de Salud Comunitaria/tendencias , Extremidad Inferior/irrigación sanguínea , Radiografía Intervencional/tendencias , Procedimientos Quirúrgicos Vasculares/tendencias , Filtros de Vena Cava/tendencias , Tromboembolia Venosa/prevención & control , Anciano , Remoción de Dispositivos/tendencias , Femenino , Humanos , Masculino , Michigan , Persona de Mediana Edad , Vena Poplítea/cirugía , Pautas de la Práctica en Medicina/tendencias , Diseño de Prótesis/tendencias , Radiografía Intervencional/efectos adversos , Radiografía Intervencional/instrumentación , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Ultrasonografía , Procedimientos Quirúrgicos Vasculares/efectos adversos , Procedimientos Quirúrgicos Vasculares/instrumentación , Tromboembolia Venosa/diagnóstico por imagen
20.
J Clin Gastroenterol ; 39(6): 508-11, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15942437

RESUMEN

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.


Asunto(s)
Enfermedad Celíaca/epidemiología , Adulto , Biopsia , Distribución de Chi-Cuadrado , Femenino , Humanos , Inmunoglobulina A/sangre , Masculino , Persona de Mediana Edad , Prevalencia , Estadísticas no Paramétricas , Turquía/epidemiología
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