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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.
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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.
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Hipotireoidismo Congênito , Triagem Neonatal , Tiroxina , Humanos , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/epidemiologia , Tiroxina/administração & dosagem , Tiroxina/sangue , Feminino , Triagem Neonatal/métodos , Estudos Retrospectivos , Masculino , Recém-Nascido , Turquia/epidemiologia , Lactente , Seguimentos , Pré-Escolar , PrognósticoRESUMO
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.
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Síndrome Congênita de Insuficiência da Medula Óssea , Diabetes Mellitus , Cardiomiopatias Diabéticas , Erros Inatos do Metabolismo Lipídico , Doenças Mitocondriais , Doenças Musculares , Humanos , Masculino , Camundongos , Animais , Acil-CoA Desidrogenase/genética , Acil-CoA Desidrogenase/metabolismo , Cardiomiopatias Diabéticas/genética , Cardiomiopatias Diabéticas/terapia , Terapia Genética , RNA Mensageiro/genéticaRESUMO
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.
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COVID-19 , Sarcopenia , Humanos , Adulto , Estudos Retrospectivos , COVID-19/complicações , Músculo Esquelético/diagnóstico por imagem , Sarcopenia/diagnóstico por imagem , Sarcopenia/etiologia , Sarcopenia/patologia , Músculos Peitorais/patologiaRESUMO
Dysregulation of estrogen receptor alpha (ERα) has been linked with increased metabolic and cardiovascular disease risk. Here, we generate and characterize cardiomyocyte-specific ERα knockout (ERαHKO) mice to assess the role of ERα in the heart. The most striking phenotype was obesity in female ERαHKO but not male ERαHKO mice. Female ERαHKO mice showed cardiac dysfunction, mild glucose and insulin intolerance and reduced ERα gene expression in skeletal muscle and white adipose tissue. Transcriptomic, proteomic, lipidomic and metabolomic analyses revealed evidence of contractile and/or metabolic dysregulation in heart, skeletal muscle and white adipose tissue. We show that heart-derived extracellular vesicles from female ERαHKO mice contain a distinct proteome associated with lipid and metabolic regulation, and have the capacity to metabolically reprogram the target skeletal myocyte proteome with functional impacts on glycolytic capacity and reserve. This multi-omics study uncovers a cardiac-initiated and sex-specific cardiometabolic phenotype regulated by ERα and provides insights into extracellular vesicle-mediated interorgan communication.
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Receptor alfa de Estrogênio , Vesículas Extracelulares , Camundongos Knockout , Miócitos Cardíacos , Obesidade , Proteoma , Animais , Receptor alfa de Estrogênio/metabolismo , Receptor alfa de Estrogênio/genética , Receptor alfa de Estrogênio/deficiência , Miócitos Cardíacos/metabolismo , Feminino , Obesidade/metabolismo , Obesidade/genética , Vesículas Extracelulares/metabolismo , Vesículas Extracelulares/genética , Proteoma/metabolismo , Masculino , Proteômica , Fatores Sexuais , Camundongos , Modelos Animais de Doenças , Fenótipo , Camundongos Endogâmicos C57BL , Músculo Esquelético/metabolismo , Tecido Adiposo Branco/metabolismo , Metabolismo EnergéticoRESUMO
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.
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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.
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Cardiomiopatia Dilatada , Diabetes Mellitus Tipo 1 , MicroRNAs , Animais , Glicemia , Cardiomegalia/genética , Cardiomegalia/metabolismo , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/genética , Modelos Animais de Doenças , Fibrose , Masculino , Camundongos , Camundongos Endogâmicos , MicroRNAs/metabolismo , Peptídeo Natriurético Encefálico , Estreptozocina , VinculinaRESUMO
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.
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Metilação de DNA , Proteína 1 Homóloga a MutL/metabolismo , Proteína 2 Homóloga a MutS/metabolismo , Oligospermia/metabolismo , Regiões Promotoras Genéticas , Espécies Reativas de Oxigênio/metabolismo , Humanos , Masculino , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Oligospermia/genética , Projetos PilotoRESUMO
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 (NOâ¢) 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.
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Antioxidantes/administração & dosagem , Diabetes Mellitus Experimental/tratamento farmacológico , Angiopatias Diabéticas/prevenção & controle , Endotélio Vascular/efeitos dos fármacos , Estresse Oxidativo/efeitos dos fármacos , Sulfetos/administração & dosagem , Animais , Glicemia/metabolismo , Diabetes Mellitus Experimental/sangue , Diabetes Mellitus Experimental/complicações , Angiopatias Diabéticas/etiologia , Angiopatias Diabéticas/metabolismo , Angiopatias Diabéticas/fisiopatologia , Relação Dose-Resposta a Droga , Esquema de Medicação , Endotélio Vascular/metabolismo , Endotélio Vascular/fisiopatologia , Hemoglobinas Glicadas/metabolismo , Masculino , Camundongos Endogâmicos C57BL , Músculo Liso Vascular/efeitos dos fármacos , Músculo Liso Vascular/metabolismo , Músculo Liso Vascular/fisiopatologia , NADPH Oxidase 2/metabolismo , Óxido Nítrico/metabolismo , Doadores de Óxido Nítrico/farmacologia , Óxido Nítrico Sintase Tipo III/metabolismo , Superóxidos/metabolismo , Fatores de Tempo , Vasodilatação/efeitos dos fármacos , Vasodilatadores/farmacologiaRESUMO
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.
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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.
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Cateterismo/efeitos adversos , Transtornos de Estresse Traumático/complicações , Bexiga Urinaria Neurogênica , Cateterismo Urinário/efeitos adversos , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Satisfação Pessoal , Qualidade de Vida , Fatores Sexuais , Transtornos de Estresse Traumático/psicologia , Inquéritos e Questionários , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinaria Neurogênica/psicologia , Bexiga Urinaria Neurogênica/terapia , Escala Visual AnalógicaRESUMO
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.
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Traumatismos da Medula Espinal/fisiopatologia , Traumatismos da Medula Espinal/reabilitação , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinaria Neurogênica/reabilitação , Adolescente , Adulto , Idoso , Antagonistas Colinérgicos/uso terapêutico , Estudos Transversais , Feminino , Seguimentos , Humanos , Cateterismo Uretral Intermitente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores Sexuais , Traumatismos da Medula Espinal/tratamento farmacológico , Inquéritos e Questionários , Resultado do Tratamento , Bexiga Urinaria Neurogênica/tratamento farmacológico , Infecções Urinárias/tratamento farmacológico , Infecções Urinárias/fisiopatologia , Adulto JovemRESUMO
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.
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Carcinoma de Células Escamosas/cirurgia , Neoplasias Bucais/cirurgia , Neoplasias da Glândula Submandibular/cirurgia , Glândula Submandibular/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/patologia , Invasividade Neoplásica , Estudos Retrospectivos , Adulto JovemRESUMO
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.
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Qualidade de Vida/psicologia , Traumatismos da Medula Espinal/psicologia , Traumatismos da Medula Espinal/terapia , Incontinência Urinária/psicologia , Incontinência Urinária/terapia , Adulto , Estudos Transversais , Gerenciamento Clínico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Traumatismos da Medula Espinal/epidemiologia , Inquéritos e Questionários , Resultado do Tratamento , Incontinência Urinária/epidemiologia , Adulto JovemRESUMO
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.
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Anormalidades Múltiplas/genética , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 9 , Pré-Escolar , Bandeamento Cromossômico , Cromossomos Humanos Par 8 , Feminino , Aconselhamento Genético , Humanos , Hibridização in Situ Fluorescente , Lactente , Síndrome , TrissomiaRESUMO
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.
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Força de Mordida , Análise do Estresse Dentário/métodos , Diagnóstico por Computador/métodos , Eletromiografia/métodos , Má Oclusão Classe II de Angle/diagnóstico , Má Oclusão Classe II de Angle/reabilitação , Modelos Biológicos , Contenções Ortodônticas , Adolescente , Algoritmos , Criança , Simulação por Computador , Interpretação Estatística de Dados , Feminino , Humanos , Masculino , Má Oclusão Classe II de Angle/fisiopatologia , Modelos Estatísticos , Contração Muscular , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estatística como AssuntoRESUMO
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.
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Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 18 , Deficiência Intelectual/genética , Insuficiência da Valva Mitral/genética , Adolescente , Surdez/diagnóstico , Surdez/genética , Orelha Externa/anormalidades , Ecocardiografia , Fácies , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Insuficiência da Valva Mitral/diagnóstico , Prolapso da Valva Mitral/diagnóstico , Prolapso da Valva Mitral/genética , Insuficiência da Valva Tricúspide/diagnóstico , Insuficiência da Valva Tricúspide/genética , TurquiaRESUMO
BACKGROUND: Behçet's disease is a chronic, multisystem, inflammatory disease characterized by the predominance of T-helper 1 cytokines. The disease is also characterized by infiltration of lymphocytes and neutrophils into the affected tissues. Because cytokines are involved in the regulation of lymphocyte and phagocyte functions, they may play an important role in the pathogenesis of Behçet's disease. Leptin, a member of the gp 130 family of cytokines, induces a strong T-helper 1 response and is regarded as a proinflammatory inducer. Recent studies have shown that serum leptin concentration was increased in patients with Behçet's disease and correlated with disease activity. OBJECTIVES: We aimed to investigate the role of G2548A polymorphism of leptin gene in patients with Behçet's disease and compare the results with healthy controls. PATIENTS AND METHODS: A total of 93 subjects with Behçet's disease and 125 healthy controls were included in this study. Analyses of G-2548A polymorphism of the LEP gene were performed using the PCR-restriction fragment length polymorphism technique. The genotypes (GG, GA, and AA of leptin G2548A) and alleles (G and A of leptin 2548) were scored and the frequency was estimated. The frequencies of the alleles and genotypes in patients and controls were compared. We analysed the correlation between leptin gene polymorphism and the clinical features of BD. RESULTS: Both genotype and allele frequencies were not significantly different between controls and Behçet's disease patients [OR=0.67, 95% CI (0.35-1.29), P=0.197 and OR=0.77, 95% CI (0.52-1.15), P=0.184]. We did not find any significant relationship between leptin gene polymorphism and the clinical features of BD (P>0.05). CONCLUSION: In the present case-control study, we found no evidence of an association between the G-2548A variant of the leptin gene and BD among Turks. Further studies are needed to investigate serum leptin level to explain the mechanisms behind the lack of association between leptin G2548A gene polymorphism and BD.
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Síndrome de Behçet/genética , Leptina/genética , Polimorfismo Genético , Sequência de Bases , Estudos de Casos e Controles , Primers do DNA , Regulação da Expressão Gênica , Frequência do Gene , Genótipo , Humanos , Regiões Promotoras GenéticasRESUMO
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.