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1.
J Endocrinol Invest ; 2024 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-38546931

RESUMEN

PURPOSE: We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. METHODS: This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by "National Newborn Screening Program" (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). RESULTS: Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34-38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. CONCLUSION: According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

2.
Acta Endocrinol (Buchar) ; 19(3): 364-369, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38356974

RESUMEN

Background: NR5A1 [Steroidogenic factor 1 (SF1)] is a nuclear receptor that is essential for the development of gonads and adrenal glands as well as the establishment of steroidogenesis in these organs. The clinical findings of the mutations of NR5A1 gene in 46, XY individuals are variable. Virilization at puberty can be seen in some of the 46, XY children who have a female phenotype and are raised as female.A girl aged 13 years and 10 months old was brought by the family for deepening of her voice. On physical examination, her breast development was Tanner stage 2, axillary hair (+) and pubic hair was Tanner stage 4. She had labioscrotal fusion and 4.4 cm phallus (External Masculinisation Score was 6). Hypergonadotropic hypogonadism, low AMH and high testosterone levels were detected in laboratory tests. Uterus was not visualized in pelvic ultrasonography. Karyotype analysis was reported as 46, XY. Sequence analysis of the NR5A1 gene revealed a novel heterozygote c.1075_1089del (p.Leu359_Leu363del) variant. The patient was raised as a female and oestrogen replacement was started following gonadectomy. Conclusion: It should be kept in mind that virilization may develop at puberty in individuals with 46, XY disorder of sexual development due to NR5A1 mutation.

3.
Andrologia ; 50(3)2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28983945

RESUMEN

MLH1 and MSH2 are important genes for DNA mismatch repair and crossing over during meiosis and are implicated in male infertility. Therefore, the methylation patterns of the DNA mismatch repair genes MLH1 and MSH2 in oligozoospermic males were investigated. Ten oligozoospermic patients and 29 normozoospermic donors were analysed. Methylation profiles of the MLH1 and MSH2 promotors were analysed. In addition, sperm motility and seminal reactive oxygen species (ROS) were recorded. Receiver operating characteristic (ROC) analysis was conducted to determine the accuracy of the DNA methylation status of MLH1 and MSH2 to distinguish between oligozoospermic and normozoospermic men. In oligozoospermic men, MLH1 was significantly (p = .0013) more methylated compared to normozoospermic men. Additionally, there was a significant positive association (r = .384; p = .0159) between seminal ROS levels and MLH1 methylation. Contrary, no association between MSH2 methylation and oligozoospermia was found. ROC curve analysis for methylation status of MLH1 was significant (p = .0275) with an area under the curve of 61.1%, a sensitivity of 22.2% and a specificity of 100.0%. This pilot study indicates oligozoospermic patients have more methylation of MLH1 than normozoospermic patients. Whether hypermethylation of the MLH1 promoter plays a role in repairing relevant mismatches of sperm DNA strands in idiopathic oligozoospermia warrants further investigation.


Asunto(s)
Metilación de ADN , Homólogo 1 de la Proteína MutL/metabolismo , Proteína 2 Homóloga a MutS/metabolismo , Oligospermia/metabolismo , Regiones Promotoras Genéticas , Especies Reactivas de Oxígeno/metabolismo , Humanos , Masculino , Homólogo 1 de la Proteína MutL/genética , Proteína 2 Homóloga a MutS/genética , Oligospermia/genética , Proyectos Piloto
4.
Spinal Cord ; 52(11): 826-30, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25112969

RESUMEN

OBJECTIVES: The aim of this study is to examine the obstacles in people with traumatic spinal cord injury (SCI) face performing intermittent catheterization (IC), also their worries and level of satisfaction. METHODS: Two hundred sixty-nine patients performing IC for at least 3 months were asked to fill-out a questionnaire about their opinions on IC. RESULTS: In total, 69.5% of patients performed IC themselves, 10.4% had performed by their mothers, 7.8% by another caregiver and 7.4% by their spouse. For the 72 (26%) patients unable to apply IC, reasons were insufficient hand function (56.1%), being unable to sit appropriately (35.4%) and spasticity (8.5%). In all, 70% of male patients had insufficient hand function, 20% could not sit and 10% had spasticity while 56.3% of female patients could not sit, 37.5% had insufficient hand function and 63% had spasticity. Difference between sexes was found to be statistically significant (P<0.05). Worries patients had when starting IC were fear of being dependent on IC (50.2%), accidentally injuring self (43.8%), embarrassment (43.2%), causing an infection (40.2%), bleeding (32.7%), fear of feeling pain (30.2%) and hygiene (24.7%). More women felt embarrassment; other items were similar in both sexes. In all, 46.9% of patients had urinary incontinence in intervals. CONCLUSION: In total, 69.5% of patients performed IC themselves. Men's most common obstacle was insufficient hand function while women's was being unable to sit appropriately. Patients' most common worries were being dependent on IC for life. In all, 46.9% had incontinence in intervals; 47.9% said IC improved their life quality; and 97.4% preferred IC over continuous catheterization.


Asunto(s)
Cateterismo/efectos adversos , Trastornos de Estrés Traumático/complicaciones , Vejiga Urinaria Neurogénica , Cateterismo Urinario/efectos adversos , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud , Satisfacción Personal , Calidad de Vida , Factores Sexuales , Trastornos de Estrés Traumático/psicología , Encuestas y Cuestionarios , Vejiga Urinaria Neurogénica/etiología , Vejiga Urinaria Neurogénica/psicología , Vejiga Urinaria Neurogénica/terapia , Escala Visual Analógica
5.
Spinal Cord ; 52(6): 462-7, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24732167

RESUMEN

STUDY DESIGN: Multi-center, cross-sectional study. OBJECTIVES: Our aim was to evaluate the treatment methods and follow-up of neurogenic bladder in patients with traumatic spinal cord injury retrospectively using a questionnaire. SETTING: Turkey. METHODS: Three hundred and thirty-seven patients who had spinal cord injury for at least 2 years were enrolled from six centers in the neurogenic bladder study group. They were asked to fill-out a questionnaire about treatments they received and techniques they used for bladder management. RESULTS: The study included 246 male and 91 female patients with a mean age of 42±14 years. Intermittent catheterization (IC) was performed in 77.9% of the patients, 3.8% had indwelling catheters, 13.8% had normal spontaneous micturition, 2.6% performed voiding maneuvers, 1.3% used diapers and 0.6% used condom catheters. No gender difference was found regarding the techniques used in bladder rehabilitation (P>0.05). Overall, 63.2% of patients used anticholinergic drugs; anticholinergic drug use was similar between genders (P>0.05). The most common anticholinergic drug used was oxybutynin (40.3%), followed by trospium (32.6%), tolterodine (19.3%) darifenacin (3.3%), propiverine (3.3%) and solifenacin (1.1%). The specialties of the physicians who first prescribed the anticholinergic drug were physiatrists (76.2%), urologists (22.1%) and neurologists (1.7%). Only four patients had previously received injections of botulinum-toxin-A into the detrusor muscle and three of them stated that their symptoms showed improvement. Most of the patients (77%) had regular follow-up examinations, including urine cultures, urinary system ultrasound and urodynamic tests, when necessary; the reasons for not having regular control visits were living distant from hospital (15.3%) and monetary problems (7.7%). Of the patients, 42.7% did not experience urinary tract infections (UTI), 36.4% had bacteriuria but no UTI episodes with fever, 15.9% had 1-2 clinical UTI episodes per year and 5% had ⩾3 clinical UTIs. The clinical characteristics of patients with and without UTI (at least one symptomatic UTI during 1 year) were similar (P>0.05). The frequency of symptomatic UTI was similar in patients using different bladder management techniques (P>0.05). CONCLUSION: The most frequently used technique for bladder rehabilitation in patients with SCI was IC (77.9%). In all, 63.2% of patients used anticholinergic drugs, oxybutynin being the most commonly used drug. Also, 77% of patients had regular control visits for neurogenic bladder; 42.7% did not experience any UTIs.


Asunto(s)
Traumatismos de la Médula Espinal/fisiopatología , Traumatismos de la Médula Espinal/rehabilitación , Vejiga Urinaria Neurogénica/fisiopatología , Vejiga Urinaria Neurogénica/rehabilitación , Adolescente , Adulto , Anciano , Antagonistas Colinérgicos/uso terapéutico , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Cateterismo Uretral Intermitente , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores Sexuales , Traumatismos de la Médula Espinal/tratamiento farmacológico , Encuestas y Cuestionarios , Resultado del Tratamiento , Vejiga Urinaria Neurogénica/tratamiento farmacológico , Infecciones Urinarias/tratamiento farmacológico , Infecciones Urinarias/fisiopatología , Adulto Joven
6.
Updates Surg ; 2024 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-38958865

RESUMEN

Studies on alterations in inflammatory markers and risk factors for perforation in hydatid cysts of the lung are rare. In our study, we planned to investigate the effect of inflammatory markers on prognosis of hydatid cyst disease. 37 patients underwent surgery for pulmonary hydatid cyst between February 2022 and October 2023 and analyzed retrospectively. Inflammatory markers were calculated from preoperative and postoperative 3rd-month peripheral blood results. Cyst size was 58.5 ± 28.0 mm, 5 patients had bilateral cysts and 11 patients had multifocal cysts. Preoperative white blood cell, white blood cell difference, preoperative and postoperative eosinophils, preoperative neutrophils, neutrophils difference, preoperative systemic immune inflammatory index, systemic immune inflammatory index difference and preoperative eosinophil lymphocyte ratio were higher in patients with perforated cysts, the cut-off value for preoperative white blood cell for perforation was 10,535, preoperative cut-off value for eosinophils was 230, preoperative cut-off value for neutrophils was 8815, the cut-off value for preoperative systemic immune inflammatory index was 1129.83 and the cut-off value for preoperative eosinophil-lymphocyte ratio was 0.09. In patients with preoperative eosinophil, neutrophil, white blood cell, eosinophil-lymphocyte ratio and systemic immune inflammatory index values above the cut-off value, the probability of perforation increased 7.5, 13.6, 6.3, 9.6, and 9.3 times, respectively.

7.
J Mol Med (Berl) ; 102(1): 95-111, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37987775

RESUMEN

Diabetic cardiomyopathy describes heart disease in patients with diabetes who have no other cardiac conditions but have a higher risk of developing heart failure. Specific therapies to treat the diabetic heart are limited. A key mechanism involved in the progression of diabetic cardiomyopathy is dysregulation of cardiac energy metabolism. The aim of this study was to determine if increasing the expression of medium-chain acyl-coenzyme A dehydrogenase (MCAD; encoded by Acadm), a key regulator of fatty acid oxidation, could improve the function of the diabetic heart. Male mice were administered streptozotocin to induce diabetes, which led to diastolic dysfunction 8 weeks post-injection. Mice then received cardiac-selective adeno-associated viral vectors encoding MCAD (rAAV6:MCAD) or control AAV and were followed for 8 weeks. In the non-diabetic heart, rAAV6:MCAD increased MCAD expression (mRNA and protein) and increased Acadl and Acadvl, but an increase in MCAD enzyme activity was not detectable. rAAV6:MCAD delivery in the diabetic heart increased MCAD mRNA expression but did not significantly increase protein, activity, or improve diabetes-induced cardiac pathology or molecular metabolic and lipid markers. The uptake of AAV viral vectors was reduced in the diabetic versus non-diabetic heart, which may have implications for the translation of AAV therapies into the clinic. KEY MESSAGES: The effects of increasing MCAD in the diabetic heart are unknown. Delivery of rAAV6:MCAD increased MCAD mRNA and protein, but not enzyme activity, in the non-diabetic heart. Independent of MCAD enzyme activity, rAAV6:MCAD increased Acadl and Acadvl in the non-diabetic heart. Increasing MCAD cardiac gene expression alone was not sufficient to protect against diabetes-induced cardiac pathology. AAV transduction efficiency was reduced in the diabetic heart, which has clinical implications.


Asunto(s)
Síndromes Congénitos de Insuficiencia de la Médula Ósea , Diabetes Mellitus , Cardiomiopatías Diabéticas , Errores Innatos del Metabolismo Lipídico , Enfermedades Mitocondriales , Enfermedades Musculares , Humanos , Masculino , Ratones , Animales , Acil-CoA Deshidrogenasa/genética , Acil-CoA Deshidrogenasa/metabolismo , Cardiomiopatías Diabéticas/genética , Cardiomiopatías Diabéticas/terapia , Terapia Genética , ARN Mensajero/genética
8.
Spinal Cord ; 51(3): 226-31, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23147134

RESUMEN

STUDY DESIGN: Multi-center, cross-sectional study. OBJECTIVES: To investigate the effects of different bladder management methods on the quality of life (QoL) in patients with spinal cord injury (SCI). SETTING: Turkey. METHODS: Consecutive SCI patients (n=195, 74.4% males), for whom at least 6 months had elapsed since the injury, were included and evaluated in five groups: normal spontaneous micturition (NSM), micturition with assisted maneuvers (MAM), aseptic intermittent catheterization by patient (IC-P), aseptic IC by an attendant/caregiver (IC-A) and indwelling catheterization. The King's Health Questionnaire was used to evaluate the patients' QoL. RESULTS: The bladder management groups were similar regarding age, time elapsed since injury, education level, marital and occupational status. There was no difference among the groups in general health perception, personal relationships and sleep/energy domain scores. While the NSM group had generally the lowest scores, that is, better QoL, the IC-A group had the highest scores, that is, poorer QoL, in most of the domains. When the patients were grouped according to the frequency of urinary incontinence or American Spinal Injury Association Impairment Scale grades, no difference was found in the domain scores of the groups except the symptom severity domain scores. No significant difference was found between paraplegic and tetraplegic patients in the King's Health Questionnaire domains. CONCLUSION: The QoL was notably affected in SCI patients in IC-A group and negative effects on emotional status, physical and social activity limitations were observed, as well.


Asunto(s)
Calidad de Vida/psicología , Traumatismos de la Médula Espinal/psicología , Traumatismos de la Médula Espinal/terapia , Incontinencia Urinaria/psicología , Incontinencia Urinaria/terapia , Adulto , Estudios Transversales , Manejo de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Traumatismos de la Médula Espinal/epidemiología , Encuestas y Cuestionarios , Resultado del Tratamiento , Incontinencia Urinaria/epidemiología , Adulto Joven
9.
Radiologia (Engl Ed) ; 65 Suppl 2: S50-S58, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37858353

RESUMEN

OBJECTIVES: It is known that COVID-19 has multisystemic effects. However, its early effects on muscle tissue have not been clearly elucidated. The aim of this study is to investigate early changes in the pectoral muscle in patients with COVID-19 infection. MATERIALS AND METHODS: The pectoral muscle areas (PMA) and pectoral muscle index (PMI) of 139 patients diagnosed with COVID-19 were measured from chest CTs taken at the time of the first diagnosis and within 6 months after the diagnosis. The effect of the infection on the muscle area was investigated by evaluating whether there was a change between the two measurements. Lung involvement of the infection in the first CT was scored with the CT severity score (CT-SS). In addition, the effects of patients' clinics, CT-SS, length of hospital stay, and intubation history on changes in the muscle area were investigated. RESULTS: When the PMA and PMI values were compared, there was a statistically significant decrease in the values in the control CT group compared to the first diagnosis CT group. The difference was found higher in intubated patients. CT-SS was associated with a decrease in PMI. CONCLUSION: COVID-19 is one of the causes of acute sarcopenia. Pectoralis muscle is part of the skeletal muscle, and there may be a decrease in the muscle area in the early period of the disease.


Asunto(s)
COVID-19 , Sarcopenia , Humanos , Adulto , Estudios Retrospectivos , COVID-19/complicaciones , Músculo Esquelético/diagnóstico por imagen , Sarcopenia/diagnóstico por imagen , Sarcopenia/etiología , Sarcopenia/patología , Músculos Pectorales/patología
10.
Cells ; 11(19)2022 10 03.
Artículo en Inglés | MEDLINE | ID: mdl-36231079

RESUMEN

MicroRNA 34a (miR-34a) is elevated in the heart in a setting of cardiac stress or pathology, and we previously reported that inhibition of miR-34a in vivo provided protection in a setting of pressure overload-induced pathological cardiac hypertrophy and dilated cardiomyopathy. Prior work had also shown that circulating or cardiac miR-34a was elevated in a setting of diabetes. However, the therapeutic potential of inhibiting miR-34a in vivo in the diabetic heart had not been assessed. In the current study, type 1 diabetes was induced in adult male mice with 5 daily injections of streptozotocin (STZ). At 8 weeks post-STZ, when mice had established type 1 diabetes and diastolic dysfunction, mice were administered locked nucleic acid (LNA)-antimiR-34a or saline-control with an eight-week follow-up. Cardiac function, cardiac morphology, cardiac fibrosis, capillary density and gene expression were assessed. Diabetic mice presented with high blood glucose, elevated liver and kidney weights, diastolic dysfunction, mild cardiac enlargement, cardiac fibrosis and reduced myocardial capillary density. miR-34a was elevated in the heart of diabetic mice in comparison to non-diabetic mice. Inhibition of miR-34a had no significant effect on diastolic function or atrial enlargement, but had a mild effect on preventing an elevation in cardiac enlargement, fibrosis and ventricular gene expression of B-type natriuretic peptide (BNP) and the anti-angiogenic miRNA (miR-92a). A miR-34a target, vinculin, was inversely correlated with miR-34a expression, but other miR-34a targets were unchanged. In summary, inhibition of miR-34a provided limited protection in a mouse model with established type 1 diabetes-induced cardiomyopathy and failed to improve diastolic function. Given diabetes represents a systemic disorder with numerous miRNAs dysregulated in the diabetic heart, as well as other organs, strategies targeting multiple miRNAs and/or earlier intervention is likely to be required.


Asunto(s)
Cardiomiopatía Dilatada , Diabetes Mellitus Tipo 1 , MicroARNs , Animales , Glucemia , Cardiomegalia/genética , Cardiomegalia/metabolismo , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/genética , Modelos Animales de Enfermedad , Fibrosis , Masculino , Ratones , Ratones Endogámicos , MicroARNs/metabolismo , Péptido Natriurético Encefálico , Estreptozocina , Vinculina
12.
Genet Couns ; 20(4): 341-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-20162869

RESUMEN

Two cases of 9p deletion syndrome anda case of partial trisomy 8 and partial monosomy 9p: We report 3 girls with mental retardation (MR), distinctive malformations of the skull and facial region, including trigonocephaly, small palpebral fissures, and unusually midface hypoplasia, congenital heart defects which are characteristics of monosomy 9p. We performed GTG banding and fluorescence in situ hybridization (FISH) method in all cases. By using cytogenetic methods, three terminal deletions of the short arm of the chromosome 9 were identified and in 2 patients the deletion was de novo, and one patient inherited deletion. FISH analysis showed 46,XX,del(9)(pter-p22).ish del(9)(pter-->p22) in two patients and 46,XX,-9,+der(9)t(8;9)(q24.3;p22)pat.ish der(9)t(8;9)(q24.3;p22)pat (305J7-T7x1,wcp8+,wcp9+) in the third patient. This report compares the symptoms and features of our patients with previously reported patients with a 9p deletion syndrome.


Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 9 , Preescolar , Bandeo Cromosómico , Cromosomas Humanos Par 8 , Femenino , Asesoramiento Genético , Humanos , Hibridación Fluorescente in Situ , Lactante , Síndrome , Trisomía
13.
Proc Inst Mech Eng H ; 223(8): 991-1001, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20092096

RESUMEN

In this study, electromyography signals sampled from children undergoing orthodontic treatment were used to estimate the effect of an orthodontic trainer on the anterior temporal muscle. A novel data normalization method, called the correlation- and covariance-supported normalization method (CCSNM), based on correlation and covariance between features in a data set, is proposed to provide predictive guidance to the orthodontic technique. The method was tested in two stages: first, data normalization using the CCSNM; second, prediction of normalized values of anterior temporal muscles using an artificial neural network (ANN) with a Levenberg-Marquardt learning algorithm. The data set consists of electromyography signals from right anterior temporal muscles, recorded from 20 children aged 8-13 years with class II malocclusion. The signals were recorded at the start and end of a 6-month treatment. In order to train and test the ANN, two-fold cross-validation was used. The CCSNM was compared with four normalization methods: minimum-maximum normalization, z score, decimal scaling, and line base normalization. In order to demonstrate the performance of the proposed method, prevalent performance-measuring methods, and the mean square error and mean absolute error as mathematical methods, the statistical relation factor R2 and the average deviation have been examined. The results show that the CCSNM was the best normalization method among other normalization methods for estimating the effect of the trainer.


Asunto(s)
Fuerza de la Mordida , Análisis del Estrés Dental/métodos , Diagnóstico por Computador/métodos , Electromiografía/métodos , Maloclusión Clase II de Angle/diagnóstico , Maloclusión Clase II de Angle/rehabilitación , Modelos Biológicos , Retenedores Ortodóncicos , Adolescente , Algoritmos , Niño , Simulación por Computador , Interpretación Estadística de Datos , Femenino , Humanos , Masculino , Maloclusión Clase II de Angle/fisiopatología , Modelos Estadísticos , Contracción Muscular , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Estadística como Asunto
14.
Genet Couns ; 19(3): 261-5, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18990980

RESUMEN

We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2-->qter). This report compares the symptoms and features of the present patient with previously reported cases with 18q syndrome.


Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 18 , Discapacidad Intelectual/genética , Insuficiencia de la Válvula Mitral/genética , Adolescente , Sordera/diagnóstico , Sordera/genética , Oído Externo/anomalías , Ecocardiografía , Facies , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Insuficiencia de la Válvula Mitral/diagnóstico , Prolapso de la Válvula Mitral/diagnóstico , Prolapso de la Válvula Mitral/genética , Insuficiencia de la Válvula Tricúspide/diagnóstico , Insuficiencia de la Válvula Tricúspide/genética , Turquía
15.
Diab Vasc Dis Res ; 14(3): 246-253, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28467198

RESUMEN

Hydrogen sulphide (H2S) is endogenously produced in vascular tissue and has anti-oxidant and vasoprotective properties. This study investigates whether chronic treatment using the fast H2S donor NaHS could elicit a vasoprotective effect in diabetes. Diabetes was induced in male C57BL6/J mice with streptozotocin (60 mg/kg daily, ip for 2 weeks) and confirmed by elevated blood glucose and glycated haemoglobin levels. Diabetic mice were then treated with NaHS (100 µmol/kg/day) for 4 weeks, and aortae collected for functional and biochemical analyses. In the diabetic group, both endothelium-dependent vasorelaxation and basal nitric oxide (NO•) bioactivity were significantly reduced ( p < 0.05), and maximal vasorelaxation to the NO• donor sodium nitroprusside was impaired ( p < 0.05) in aorta compared to control mice. Vascular superoxide generation via nicotine adenine dinucleotide phosphate (NADPH) oxidase ( p < 0.05) was elevated in aorta from diabetic mice which was associated with increased expression of NOX2 ( p < 0.05). NaHS treatment of diabetic mice restored endothelial function and exogenous NO• efficacy back to control levels. NaHS treatment also reduced the diabetes-induced increase in NADPH oxidase activity, but did not affect NOX2 protein expression. These data show that chronic NaHS treatment reverses diabetes-induced vascular dysfunction by restoring NO• efficacy and reducing superoxide production in the mouse aorta.


Asunto(s)
Antioxidantes/administración & dosificación , Diabetes Mellitus Experimental/tratamiento farmacológico , Angiopatías Diabéticas/prevención & control , Endotelio Vascular/efectos de los fármacos , Estrés Oxidativo/efectos de los fármacos , Sulfuros/administración & dosificación , Animales , Glucemia/metabolismo , Diabetes Mellitus Experimental/sangre , Diabetes Mellitus Experimental/complicaciones , Angiopatías Diabéticas/etiología , Angiopatías Diabéticas/metabolismo , Angiopatías Diabéticas/fisiopatología , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Endotelio Vascular/metabolismo , Endotelio Vascular/fisiopatología , Hemoglobina Glucada/metabolismo , Masculino , Ratones Endogámicos C57BL , Músculo Liso Vascular/efectos de los fármacos , Músculo Liso Vascular/metabolismo , Músculo Liso Vascular/fisiopatología , NADPH Oxidasa 2/metabolismo , Óxido Nítrico/metabolismo , Donantes de Óxido Nítrico/farmacología , Óxido Nítrico Sintasa de Tipo III/metabolismo , Superóxidos/metabolismo , Factores de Tiempo , Vasodilatación/efectos de los fármacos , Vasodilatadores/farmacología
16.
Hippokratia ; 19(3): 219-24, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-27418780

RESUMEN

BACKGROUND: We evaluated the effects of tobacco smoking on functional outcomes of septoplasty and complication rates. METHODS: In total, 183 patients (127 males, 56 females) who had septum deviations and underwent septoplasties from January 2012 to December 2013 were evaluated. Subjects were divided into three groups: non­smokers (Group A), light smokers (<20 cigarettes/day, Group B), and heavy smokers (> 20 cigarettes/day Group C). Nasal Obstruction Symptom Evaluation (NOSE) scoring was used to evaluate the effects of tobacco smoking on septoplasty outcomes. Clinical evaluations were performed preoperatively and at one and six months postoperatively. Complications were evaluated during the clinical examinations. RESULTS: No significant differences were seen between the preoperative and 1-month postoperative NOSE scores, the 1- and 6-month postoperative NOSE scores, or the preoperative and 6-month postoperative NOSE scores among the groups (p =0.352, 0.737, and 0.344, respectively). The overall complication rate also did not differ among the three groups (p =0.860). CONCLUSIONS: Active smoking status does not affect operation outcomes and does not increase the postoperative complication rate among patients undergoing septoplasty. Although we should advise our patients to stop smoking because of its known harmful effects, smoking may not be a selection criterion for septoplasty. Hippokratia 2015; 19 (3): 219-224.

17.
Arch Surg ; 130(6): 625-30; discussion 630-1, 1995 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-7763171

RESUMEN

OBJECTIVE: To evaluate the results of selective intraoperative cholangiography (IOC) in patients undergoing laparoscopic cholecystectomy. DESIGN: Retrospective study. SETTING: Mayo Clinic, Rochester, Minn, from 1990 to 1991. PATIENTS: Five hundred forty-two patients underwent attempted laparoscopic cholecystectomy. Excluding 28 (5.2%) who underwent conversion to laparotomy and 19 (3.5%) who did not respond to a follow-up questionnaire, there were 495 respondents (mean follow-up, 25 months). MAIN OUTCOME MEASURE: Incidence and management of choledocholithiasis, extrahepatic bile duct injuries, and other findings potentially affected by IOC. RESULTS: Twenty patients underwent preoperative endoscopic retrograde cholangiopancreatography for suspected common bile duct abnormalities, and 10 had common bile duct stones removed. Nearly a third (n = 161 [32.5%]) of the patients underwent IOC for laboratory, historical, or operative findings or for training purposes. Common bile duct stones were discovered on IOC in five patients (3.1%), three of whom were treated successfully with postoperative endoscopic therapy; the two others had normal findings on endoscopic retrograde cholangiopancreatography (false-positive results of IOC). In three other patients in whom IOC was unsuccessful or incomplete, symptomatic common bile duct stones developed. Two patients were treated with endoscopic techniques, and one required open common bile duct exploration. Among the 334 patients who did not undergo IOC, symptoms suggestive of retained stones developed in eight (2.4%) (all within 2 months of surgery; mean, 18 days), but stones were found at endoscopy retrograde cholangiopancreatography in only four patients. Two had preoperative criteria for performing IOC. In only three patients (0.6%) from the study population would symptomatic retained common bile duct stones have developed with selective IOC and routinely successful IOC. No common bile duct injuries occurred. CONCLUSIONS: Selective IOC during laparoscopic cholecystectomy is a safe practice when the ductal anatomy is clearly defined and there is no laboratory or clinical evidence of common bile duct abnormalities. Symptomatic retained common bile duct stones will be infrequent, and bile duct injuries will be rare when IOC is performed for the appropriate indications. These data do not support the need for routine IOC, although this procedure is an essential tool for the laparoscopic surgeon.


Asunto(s)
Colangiografía , Colecistectomía Laparoscópica , Colelitiasis/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Colangiografía/métodos , Colangiopancreatografia Retrógrada Endoscópica , Colelitiasis/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Humanos , Periodo Intraoperatorio , Masculino , Persona de Mediana Edad , Cuidados Preoperatorios , Estudios Retrospectivos
18.
Clin J Pain ; 13(3): 260-3, 1997 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-9303260

RESUMEN

CASE REPORT: Three cases of intractable pain arising from widespread metastatic cancer with poor response to opioids were treated with MRI-guided cingulotomy. RESULTS AND CONCLUSIONS: In most cases, MRI-guided cingulotomy was associated with significant pain relief and reduced opioid use. To provide insight into the role of MRI-guided cingulotomy in oncologic pain refractory to more conservative measures, the relative risks and benefits of cingulotomy are discussed, along with the course of one patient who experienced postoperative cognitive impairment. This report also describes the relevant neurosurgical and pharmacotherapeutic issues associated with management of pain in patients with widespread metastatic disease.


Asunto(s)
Giro del Cíngulo/cirugía , Neoplasias/complicaciones , Dolor Intratable/terapia , Cuidados Paliativos , Adulto , Carcinoma de Células Escamosas/complicaciones , Colangiocarcinoma/complicaciones , Femenino , Giro del Cíngulo/anatomía & histología , Neoplasias de Cabeza y Cuello/complicaciones , Humanos , Imagen por Resonancia Magnética , Masculino , Melanoma/complicaciones , Persona de Mediana Edad , Dolor Intratable/etiología
19.
J Emerg Med ; 15(3): 313-6, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9258780

RESUMEN

Massive hemoptysis is a rare but potentially life-threatening presentation in the emergency department (ED). We describe a case of massive hemoptysis caused by a mediastinal teratoma in an otherwise healthy young man. The teratoma had invaded into a bronchus and was resected successfully. The literature regarding massive hemoptysis due to mediastinal teratoma is reviewed. A differential diagnosis for massive hemoptysis is presented. The initial management of these patients in the ED and the diagnostic options are discussed.


Asunto(s)
Hemoptisis/etiología , Neoplasias del Mediastino/complicaciones , Teratoma/complicaciones , Adulto , Diagnóstico Diferencial , Servicio de Urgencia en Hospital , Humanos , Masculino , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/cirugía , Recurrencia , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Tomografía Computarizada por Rayos X
20.
Acta Otorhinolaryngol Ital ; 33(2): 88-92, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23853397

RESUMEN

The aim of this study was to determine the frequency and the mechanism of submandibular gland (SMG) involvement in oral cavity squamous cell carcinomas (OCSCC), and to discuss the necessity of extirpation of the gland. The authors investigated and analyzed the retrospective charts of 236 patients who underwent surgery for OCSCC over a 10-year period and the pathology reports of 294 neck dissections with SMG removal. SMG involvement was evident in 13 cases (4%). Eight cases were due to direct invasion, which was the most common mechanism. Four cases had infiltration from a metastatic periglandular lymphadenopathy, and in 1 case, metastatic disease was confirmed. The tongue and floor of the mouth were the most frequent primary sites associated with SMG involvement. The study found no bilateral cases, and in 135 SMG specimens benign pathologies were detected. Involvement of the SMG in OCSCC is not frequent. It is appropriate to preserve the gland unless the primary tumour or metastatic regional lymphadenopathy is adherent to the gland.


Asunto(s)
Carcinoma de Células Escamosas/cirugía , Neoplasias de la Boca/cirugía , Neoplasias de la Glándula Submandibular/cirugía , Glándula Submandibular/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Boca/patología , Invasividad Neoplásica , Estudios Retrospectivos , Adulto Joven
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