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1.
Niger J Clin Pract ; 25(12): 1998-2004, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36537457

RESUMO

Background and Aim: In our study, patients who underwent isolated coronary artery bypass surgery (CABG) using Del Nido cardioplegia (DNC) and crystalloid-based cold blood cardioplegia (CBC) were compared. Subject and Methods: In this study, two groups of patients who underwent isolated CABG using DNC (n = 106) and CBC (n = 107) were prospectively randomized. Groups were compared in terms of many results such as troponin T, returning spontaneous rhythm, and cardioplegia volume. Results and Conclusions: Median troponin T levels of the DNC and CBC groups were compared for the 0th hour (baseline), 12th, 36th, and 60th hours. There was no statistical difference between groups in troponin T levels of the baseline 0th hour (18[33] vs. 22[27] pg/ml; P = 0.724). Troponin T levels at the 12th hour were less in the DNC group than the CBC group but no statistical difference between the groups (790[735] vs. 826[820] pg/ml; P = 0.068), respectively. Troponin T levels at 36th and 60th hours were higher in the CBC group compared to the DNC group, and a statistical difference was observed (580[546] vs. 650[550] pg/ml; P = 0.030) and (359[395] vs. 421[400] pg/ml; P = 0.020), respectively. After X-clamping, the spontaneous rhythm rate was statistically higher in the DNC group than the CBC group (72.60% vs. 37.40%; P < 0.001). There was no statistical difference between the groups in terms of postoperative arrhythmia, hospital stay, and mortality rates (P > 0.05). Based on data we acquired from the study, we think that DNC is at least as safe and effective as CBC in adult CABG cases.


Assuntos
Parada Cardíaca Induzida , Troponina T , Humanos , Adulto , Soluções Cristaloides , Parada Cardíaca Induzida/métodos , Ponte de Artéria Coronária/métodos , Tempo de Internação
2.
Balkan J Med Genet ; 23(2): 25-34, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33816069

RESUMO

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and de novo in 14 cases. Seven de novo cases were imbalanced (in postnatal series 33.3% and in de novo cases 50.0%). Out of 13 prenatal cases, five were familial and eight were de novo in origin and two de novo cases were imbalanced (in 15.4% prenatal series and in 25.0% de novo cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in de novo cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When de novo postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.

3.
J Endocrinol Invest ; 38(3): 361-6, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25312836

RESUMO

PURPOSE: The hormone fibroblast growth factor 21 (FGF-21) regulates carbohydrate and lipid homeostasis. FGF-21 represents an attractive novel therapy for obesity since administration of FGF-21 has been shown to improve metabolic abnormalities in obese animal models. We investigated FGF-21 and its relationship with epicardial fat thickness (EFT), metabolic parameters, and inflammatory markers in premenopausal obese women compared to controls with similar Systematic Coronary Risk Evaluation (SCORE) project risk profiles. METHODS: Forty-five obese premenopausal women with body mass index (BMI) ≥30 kg/m(2) and 41 control premenopausal women with BMI <25 kg/m(2) with similar SCORE project risk profiles were included in this case-control study. EFT was evaluated by two-dimensional transthoracic echocardiography. Serum FGF-21 was measured with an ELISA kit. RESULTS: FGF-21 and EFT were significantly higher in obese women compared to controls (p < 0.001). Multiple stepwise linear regression analysis showed that EFT, BMI, and triglycerides (TG) independently contributed to FGF-21 (R(2) = 0.757, p < 0.001). However, homeostasis model assessment of insulin resistance (HOMA-IR), visceral ectopic fat, and inflammatory markers were not found as a direct contributor to serum FGF-21 level (p > 0.05). CONCLUSIONS: EFT, BMI, and TG may play an important role in predicting serum FGF-21 level which may be a potential therapeutic target in cardiometabolic disorders in the future.


Assuntos
Índice de Massa Corporal , Fatores de Crescimento de Fibroblastos/sangue , Gordura Intra-Abdominal/metabolismo , Obesidade/metabolismo , Triglicerídeos/sangue , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Resistência à Insulina/fisiologia , Obesidade/sangue , Pericárdio , Pré-Menopausa
4.
Andrologia ; 46(10): 1169-75, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24354496

RESUMO

The aim of this study was to determine the relevance of seminal plasma nitric oxide (NO) levels and the efficacy of selective serotonin reuptake inhibitor (SSRI) treatment on premature ejaculation. A total of 16 men (aged 32.18 ± 3.32) with lifelong premature ejaculation [intravaginal ejaculation latency time (IELT) <1 min] and 11 healthy men (control group) were included in this study. The healthy men formed Group 1, and the patients were randomly categorised into two groups. Group 2 patients received 20 mg day(-1) of paroxetine, and Group 3 patients received 50 mg day(-1) of sertraline for 4 weeks. Baseline and post-treatment findings were compared among the three groups. Mean baseline seminal NO levels in men with premature ejaculation were significantly higher than in the healthy control group (32.24 ± 5.61 µm l(-1) versus 19.71 ± 3.50 µm l(-1) , respectively) (P < 0.001). There was no significant difference between the sertraline and paroxetine groups in terms of IIEF scores, IELT scores and NO levels. At the end of the first month, the mean IELT scores of the paroxetine and sertraline groups showed a significant improvement compared with the baseline values (P < 0.001). After treatment with paroxetine and sertraline, NO levels dec-reased from baseline. Our study indicates that premature ejaculation is significantly related with a higher level of seminal NO. Baseline seminal plasma NO values obtained in patients with premature ejaculation were significantly higher than in the healthy control group. After treatment with SSRIs, decreased seminal NO may retard ejaculation. Further studies are needed to confirm this suggestion and the role of NO in the pathophysiology and treatment of premature ejaculation.


Assuntos
Ejaculação/efeitos dos fármacos , Óxido Nítrico/metabolismo , Paroxetina/uso terapêutico , Ejaculação Precoce/tratamento farmacológico , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Sêmen/metabolismo , Sertralina/uso terapêutico , Adulto , Método Duplo-Cego , Ejaculação/fisiologia , Humanos , Masculino , Paroxetina/farmacologia , Ejaculação Precoce/metabolismo , Sertralina/farmacologia , Resultado do Tratamento
5.
B-ENT ; 9(4): 285-91, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24597103

RESUMO

OBJECTIVES: To evaluate and compare the long-term efficacy of modified uvulopalatopharyngoplasty (mUP3) and anterior palatoplasty (AP) techniques for treating snoring in a prospective clinical trial. METHODOLOGY: Patients with total apnea-hypopnea index values < 5/per hour sleep were included in the study. Patients completed the Epworth sleepiness scale (ESS) and snoring visual analogue scale (VAS) before and 24 months after surgery, and a VAS for pain after the operation. RESULTS: Twenty-four patients were in the mUP3 group with a mean age of 42.1 +/- 11.8 years, and 26 in AP group with a mean age of 43.2 +/- 10.4 years. Snoring VAS values were significantly decreased after surgery in both groups (p < 0.025), but changes between operative groups were not statistically significant (p > 0.05). Patients' ESS scores in both groups significantly decreased (p < 0.025), but ESS score changes between groups were not significantly different (p > 0.05). Two years postoperatively, patient satisfaction was 85% in the AP group, and 70% in the mUP3 group. Pain VAS values were significantly lower in the AP group than in the mUP3 group (p < 0.001). Eight patients (33.3%) in the mUP3 group and one (7.7%) in the AP group reported nasal regurgitation of liquids upon swallowing during the first week postoperatively. Two years after the operation, 10 patients (41.6%) in the mUP3 group and 9 (34.6%) in AP group still had a lump sensation in the throat. CONCLUSIONS: We compared the efficacy of the mUP3 and AP techniques to treat patients with primary snoring and found less morbidity and more patient satisfaction in the AP group.


Assuntos
Palato Mole/cirurgia , Satisfação do Paciente , Faringe/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Sono/fisiologia , Ronco/cirurgia , Úvea/cirurgia , Adulto , Feminino , Seguimentos , Humanos , Masculino , Período Pós-Operatório , Estudos Prospectivos , Ronco/fisiopatologia , Fatores de Tempo , Resultado do Tratamento
6.
J BUON ; 18(3): 614-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24065472

RESUMO

PURPOSE: The present study was undertaken to evaluate the effects of adjuvant anthracycline-based chemotherapy on thiobarbituric acid reactive substances (TBARS) and superoxide dismutase (SOD) levels in patients with breast cancer who had undergone surgery. METHODS: Body mass index (BMI), serum lipids (total cholesterol, LDL cholesterol, HDL cholesterol and triglycerides), serum TBARS and SOD values were assessed in 30 patients with stage III breast cancer receiving adjuvant anthracycline- based chemotherapy. RESULTS: Anthracycline-based chemotherapy had no effect on BMI, blood pressure and lipid profile. A significant elevation was noted in TBARS (5.5±0.6 vs 5.9±0.9 µmol/L; p=0.038) and a significant reduction to baseline values in SOD levels (226.5±61.0 vs 203.1±48.3 U/mL; p=0.03) in patients following 6 cycles of adjuvant chemotherapy. CONCLUSION: The TBARS levels increased, whereas the SOD levels descreased after anthracycline-based chemotherapy. We suggest that oxidative stress is not always detrimental, as it can be beneficial in cancer treatment.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Antioxidantes/metabolismo , Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/metabolismo , Estresse Oxidativo , Adulto , Idoso , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/patologia , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Ciclofosfamida/administração & dosagem , Docetaxel , Epirubicina/administração & dosagem , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Prognóstico , Superóxido Dismutase/metabolismo , Taxoides/administração & dosagem , Substâncias Reativas com Ácido Tiobarbitúrico/metabolismo , Triglicerídeos/sangue
7.
J Orofac Orthop ; 84(Suppl 3): 186-199, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36107224

RESUMO

PURPOSE: The aim of this study was to evaluate the effect of light-emitting photobiomodulation therapy (LPT) on the rate of canine distalization. METHODS: This study was performed on 60 extraction spaces formed by extraction of the upper first premolars of 30 patients (15 in the LPT group and 15 in the control group). Paul Gjessing (PG)-segmented canine retraction springs were used for canine distalization. In the LPT group, the Biolux OrthoPulse™ (Biolux Research Ltd, Vancouver, Canada) intraoral device (wavelength 850 nm LED light and an energy density of 63 mW/cm2 [±13 mW/cm2]) was used for 5 min per day over a period of 84 days. For each patient, the diagnosis was based on standard orthodontic documentation with photographs, digital model casts, and cephalometric and panoramic radiographs. The anchorage loss, canine rotations, canine inclinations, and molar inclinations were also evaluated on plaster models obtained on days 0, 21, 42, 63, and 84. The models were measured by using 3Shape OrthoAnalyzer software (3Shape, Copenhagen, Denmark). Measurements were made by a researcher and a blinded clinician. For statistical comparison, a paired-samples t­test and one-way analysis of variance (ANOVA) were used at the p < 0.05 level. RESULTS: The mean canine distalization rates were 1.36 mm/21 days and 1.02 mm/21 days in the LPT and control groups, respectively, and were statistically greater in the LPT group (p < 0.001). The amount of anchorage loss, canine rotations, canine inclinations and molar inclinations were not significantly different between the LPT and control groups at any of the timepoints. CONCLUSION: LPT has the potential to accelerate orthodontic tooth movement by 33%.

8.
Eur Rev Med Pharmacol Sci ; 27(5): 2132-2142, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36930513

RESUMO

OBJECTIVE: As the pandemic continues, different vaccine protocols have been implemented to maintain the protection of vaccines and to provide protection against new variants. The aim of this study was to assess hospitalized patients' vaccination status and document the efficacy of boosters. PATIENTS AND METHODS: The patients that were hospitalized due to COVID-19 were enrolled from 28 hospitals in Turkey for five months from September 2021. 5,331 confirmed COVID-19 patients from collaborating centers were randomly enrolled to understand/estimate the distribution of vaccination status in hospitalized patients and to compare the efficacy of vaccination/booster protocols. RESULTS: 2,779 men and 2,552 women of which 2,408 (45.2%) were admitted to Intensive Care Units participated in this study. It was found that the highest risk reduction for all age groups was found in groups that received 4 doses. Four doses of vaccination for every 3.7 people under 50 years of age, for every 5.7 people in the 50-64 age group, and for every 4.3 people over 65 years of age will prevent 1 patient from being admitted to intensive care. Regardless of the type of vaccine, it was found that the risk of ICU hospitalization decreased in those who were vaccinated compared to those who were not vaccinated. Regardless of the type of vaccine, the ICU risk was found to decrease 1.25-fold in those who received 1 or 2 doses of vaccine, 1.18-fold in those who received 3 doses, and 3.26-fold in those who received 4 doses. CONCLUSIONS: The results suggested that the addition of a fourth dose is more effective in preventing intensive unit care even in disadvantaged groups.


Assuntos
COVID-19 , Masculino , Humanos , Feminino , Idoso , COVID-19/epidemiologia , COVID-19/prevenção & controle , Hospitalização , Unidades de Terapia Intensiva , Hospitais , Cuidados Críticos
9.
Prenat Diagn ; 31(4): 356-9, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21321968

RESUMO

OBJECTIVE: To assess the prevalence of pelvic kidneys during prenatal sonographic examinations in the second and third trimesters and to examine postnatal outcome. METHODS: Prenatal sonographic findings and postnatal follow-up data of fetuses with prenatal diagnosis of pelvic kidneys were analyzed. Routine (n = 10 079) and indicated (n = 17 732) second and third trimester scans were performed in 27 811 fetuses. A pelvic kidney was defined as one located within the fetal bony pelvis and in close approximation to the bladder. Postnatal evaluation consisted of renal ultrasound and/or dimercapto-succinic acid scan. RESULTS: A total of 36 newborns with postnatally confirmed pelvic kidneys were included in this analysis. Median gestational age at diagnosis was 25 weeks; half (18/36) were recognized after 24 weeks. The prevalence of pelvic kidneys in this cohort was 0.14%. Postnatally impaired renal function was present in 33% of the pelvic kidneys of children, but overall renal function remained normal. No serious complications occurred in the 31 fetuses with long-term follow-up, except in 1 case, which required nephrectomy due to multicystic dysplasia of the pelvic kidney. CONCLUSION: Pelvic kidneys are common and can be easily detected prenatally. Prognosis is favorable in the vast majority of the cases.


Assuntos
Nefropatias/diagnóstico por imagem , Resultado da Gravidez/epidemiologia , Ultrassonografia Pré-Natal , Adulto , Feminino , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico por imagem , Doenças do Recém-Nascido/epidemiologia , Rim/anormalidades , Rim/diagnóstico por imagem , Nefropatias/congênito , Nefropatias/embriologia , Nefropatias/epidemiologia , Masculino , Pelve/anormalidades , Pelve/diagnóstico por imagem , Gravidez , Prognóstico , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto Jovem
10.
Genet Couns ; 22(4): 371-6, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22303797

RESUMO

A 25-year-old female was referred for short stature and joint deformities. Except for previous corneal transplantation, her medical history was unremarkable. Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal intellect. Urine glycosaminoglycan levels were high, and blood enzyme assay indicated significantly low alpha-L-iduronidase levels. Mucopolysaccharidosis I (MPS I) was diagnosed and prompted the onset of enzyme replacement therapy (ERT), which significantly improved articular complaints, while cardiac pathology remained stable. At the eighteenth month of ERT, sudden vision loss developed. She spontaneously recovered her vision in a month. MPS I is a progressive disease, in which tissue accummulation of heparan and dermatan sulphate result from defective activity or lack of alpha-L-iduronidase. ERT in MPS I usually presents favourable outcomes or at least stabilization of symptoms. This present case qualifies as the first report ofa MPS I patient developing sudden vision loss under ERT. We suggest that further research studies are warranted for defining the efficiency and possible limitations of ERT.


Assuntos
Cegueira/induzido quimicamente , Cegueira/diagnóstico , Terapia de Reposição de Enzimas/métodos , Iduronidase/efeitos adversos , Iduronidase/uso terapêutico , Mucopolissacaridose I/diagnóstico , Mucopolissacaridose I/tratamento farmacológico , Adulto , Esquema de Medicação , Feminino , Seguimentos , Humanos , Infusões Intravenosas , Remissão Espontânea
12.
Fetal Diagn Ther ; 30(2): 141-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21952353

RESUMO

OBJECTIVES: The aim of this study was to evaluate fetal intracranial and other ultrasonographic findings in cytomegalovirus (CMV) infection. METHODS: Data on amniotic fluid CMV-DNA-PCR-positive pregnancies detected in our institution between January 2006 and June 2009 were reviewed retrospectively. Fetal biometric measurements, fetal anatomy, amniotic fluid volume, placental thickness and texture were analyzed for abnormalities. RESULTS: Eight fetuses were diagnosed with congenital CMV infection during the study interval. Their mean gestational age at diagnosis was 25.8 weeks (range: 23-29). All fetuses had intracranial abnormalities; increased periventricular echogenicity (n = 7), ventriculomegaly (n = 5), intracranial calcifications (n = 4), intraventricular adhesions (n = 4), thalamic hyperechogenicity (n = 3), mega cisterna magna (n = 3), lissencephaly (n = 2), vermian defect (n = 2) and cerebellar cyst (n = 1). All of them had accompanying extracranial findings, including hyperechogenic bowel (n = 6), cardiomegaly (n = 3), pericardial effusion (n = 2) and hepatosplenomegaly (n = 1). Intrauterine growth retardation was detected in 3 cases. Five pregnancies were terminated, and 1 intrauterine death occurred. The remaining 2 delivered vaginally at term. One of the live-born babies suffers from tetraparesis, mental retardation and autism, and the other has mild hemiplegia. CONCLUSIONS: The spectrum of sonographic findings may vary widely in patients with congenital CMV infection in the prenatal period. CMV should be kept in mind in differential diagnosis, particularly in fetuses with intracranial sonographic findings such as ventriculomegaly, calcifications, intraventricular adhesions and increased periventricular echogenicity.


Assuntos
Infecções por Citomegalovirus/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Crânio/diagnóstico por imagem , Ultrassonografia Pré-Natal , Biometria , Calcinose/diagnóstico por imagem , Calcinose/embriologia , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/genética , Feminino , Doenças Fetais/genética , Doenças Fetais/virologia , Idade Gestacional , Humanos , Cariotipagem , Lisencefalia/diagnóstico por imagem , Lisencefalia/embriologia , Gravidez , Crânio/embriologia
13.
J Endocrinol Invest ; 33(1): 42-7, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19620823

RESUMO

BACKGROUND: To investigate the hypothalamic-pituitary- adrenal (HPA) axis in patients with ankylosing spondylitis (AS) and healthy controls. METHODS: Forty-nine AS patients and 20 healthy controls were included. Lowdose ACTH test (LDST) was used to assess the HPA axis. Basal cortisol, stimulated peak cortisol levels, and acutephase reactants [C-reactive protein (CRP), erythrocyte sedimentation rate, and fibrinogen] were studied. Bath Ankylosing Spondylitis Functional Index, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and Bath Ankylosing Spondylitis Metrology Index were also evaluated. RESULTS: Patient and control groups were not different regarding age, sex, body mass index and waist circumference (WC). Basal cortisol levels did not show a significant difference between groups. However, cortisol increment after low-dose ACTH was significantly impaired in AS subjects with respect to controls (20.0+/-4.4 vs 24+/-2.2 microg/dl, p<0.001). Eleven AS patients had impaired cortisol peak after LDST when a cortisol cut-off is accepted as 500 nmol/l (18 microg/dl) and none of the controls exhibited a peak cortisol responses to LDST<500 nmol/l. Comparison of AS subjects who were receiving anti-tumor necrosis factor (TNF) (no.=23), and conventional therapy (no.=26) yielded similar basal and peak cortisol concentrations. Peak cortisol concentrations were associated with basal cortisol, impaired cortisol response, CRP, and fibrinogen. Impaired cortisol response (subjects with peak cortisol levels <18 microg/dl) was significantly correlated with basal and peak cortisol concentrations and BASDAI. CONCLUSION: Our results indicate an increased prevalence of subclinical glucocorticoid deficiency in AS patients. Anti-TNF treatment seems not to have effect on HPA axis.


Assuntos
Espondilite Anquilosante/fisiopatologia , Adolescente , Hormônio Adrenocorticotrópico , Adulto , Idoso , Proteína C-Reativa/metabolismo , Feminino , Humanos , Hidrocortisona/sangue , Sistema Hipotálamo-Hipofisário/fisiopatologia , Masculino , Pessoa de Meia-Idade , Sistema Hipófise-Suprarrenal/fisiopatologia
14.
Clin Exp Obstet Gynecol ; 37(1): 33-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20420278

RESUMO

OBJECTIVES: To evaluate the effect of genetic amniocentesis on the preterm delivery rate in women with uterine myoma. METHODS: The volume of each fibroid and the relation to the placenta, myometrium and uterine corpus were recorded. Amniocentesis was performed by an experienced operator, if indicated. RESULTS: During the study 14,579 pregnant women were examined and 234 had complications of uterine myomas (1.61%). Forty-three women delivered prematurely (19.46%). The results revealed that multifocal fibroids in relation to the myometrium, uterine myoma subjacent to the placenta, total myoma volume greater than 150 cm3 are statistically significant independent risk factors for preterm delivery, while amniocentesis was not found to be an independent risk factor for preterm delivery. CONCLUSIONS: Although having uterine myoma is a fairly known cause of preterm delivery, second trimester genetic amniocentesis does not seem to have any additional adverse effect on the preterm delivery rate in women with uterine myomas.


Assuntos
Amniocentese , Mioma/epidemiologia , Nascimento Prematuro/epidemiologia , Neoplasias Uterinas/epidemiologia , Adulto , Feminino , Humanos , Mioma/patologia , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos , Fatores de Risco , Neoplasias Uterinas/patologia
15.
B-ENT ; 6(3): 201-4, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21090163

RESUMO

Keutel syndrome (KS) is a rare autosomal recessive disease which is mainly characterised by abnormal cartilage calcification, peripheral pulmonary artery stenosis, sensorineural and conductive hearing loss, brachytelephalangism, and midface hypoplasia. Here, we present and discuss a Keutel syndrome patient with hearing loss born to consanguineous parents (first cousins), along with all the characteristic features of KS.


Assuntos
Anormalidades Múltiplas/diagnóstico , Doenças das Cartilagens/diagnóstico , Perda Auditiva/etiologia , Estenose da Valva Pulmonar/diagnóstico , Adulto , Doenças das Cartilagens/complicações , Feminino , Perda Auditiva/diagnóstico , Humanos , Estenose da Valva Pulmonar/complicações , Síndrome
16.
J BUON ; 15(3): 572-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20941830

RESUMO

PURPOSE: To evaluate the levels of asymmetric dimethylarginine (ADMA), an endothelin and nitric oxide (NO) synthase inhibitor, in patients with node-positive breast cancer who had undergone surgery and in a control group including healthy individuals. The effects of taxane-based chemotherapy on endothelin-1 (ET-1) and ADMA levels in the patient group were also studied. METHODS: Body mass index (BMI), serum lipids (total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerides), ADMA and ET-1 were studied in 19 healthy individuals and in 19 patients with stage II and III, lymph node-positive breast cancer receiving taxane-based chemotherapy. RESULTS: ET-1 (34.3±12.8 vs. 13.8±4.5 pg/mL; p<0.001) and ADMA (0.87±0.18 vs. 0.68±0.24 µmol/L; p=0.024) levels were significantly higher in the breast cancer group compared to the control group. A significant reduction was noted in ET-1 (34.3±12.8 vs. 27.3±4.3 pg/mL; p=0.021) and ADMA (0.87±0.18 vs. 0.73±0.15 µmol/L; p=0.014) levels in patients following 6 cycles of adjuvant chemotherapy to baseline values. CONCLUSION: The present study demonstrated significantly higher levels of ET-1 and ADMA in the breast cancer group compared to the control group, which were reduced significantly with adjuvant taxane-based chemotherapy. It is apparent that prospective studies are needed to understand the effect of reducing ET-1 and ADMA levels on patient survival. We believe that the present study will provide guidance to relevant future studies.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Arginina/análogos & derivados , Neoplasias da Mama/tratamento farmacológico , Endotelina-1/sangue , Adulto , Idoso , Arginina/sangue , Índice de Massa Corporal , Neoplasias da Mama/sangue , Quimioterapia Adjuvante , Docetaxel , Feminino , Humanos , Lipídeos/sangue , Pessoa de Meia-Idade , Taxoides/administração & dosagem
17.
Ultrasound Obstet Gynecol ; 33(3): 360-2, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19248001

RESUMO

Congenital enlargement of one or several digits of the hands or feet, known as macrodactyly, is a rare malformation. True macrodactyly, characterized by overgrowth of all mesenchymal elements, must be differentiated from that due to tumorous enlargement of a single element, as in hemangioma, lymphangioma or enchondroma. Furthermore, macrodactyly may be isolated, but it can also be associated with several syndromes. Here we present a case of prenatally diagnosed isolated true macrodactyly of the second toe of the left foot at 24 weeks of gestation, and discuss the key points in its differential diagnosis and management.


Assuntos
Deformidades Congênitas do Pé/diagnóstico por imagem , Dedos do Pé/diagnóstico por imagem , Amputação Cirúrgica , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Dedos do Pé/anormalidades , Ultrassonografia Pré-Natal
19.
Genet Couns ; 18(4): 401-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-18286821

RESUMO

Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 22/genética , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/genética , Criptorquidismo/complicações , Criptorquidismo/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Hipotonia Muscular/complicações , Hipotonia Muscular/genética , Criança , Análise Citogenética , Vesícula Biliar/anormalidades , Humanos , Fígado/anormalidades , Masculino , Pâncreas/anormalidades , Síndrome , Translocação Genética
20.
Clin Exp Obstet Gynecol ; 34(2): 117-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17629170

RESUMO

PURPOSE OF INVESTIGATION: To emphasize the importance of untreated thyrotoxicosis in pregnancy. When left untreated, severe maternal, fetal and even neonatal adverse outcomes such as preeclampsia, premature labor, low birthweight infants and increased perinatal mortality are prone to complicate the pregnancy. PRESENTATION: A case of thyrotoxicosis untreated during pregnancy is reported. CONCLUSION: Many authors have concluded that there is no need for routine assessment of the thyroid hormones and TSH levels in pregnancy. Nonetheless laboratory assessment for thyrotoxicosis should be done in cases with suspicious symptoms and signs. All thyrotoxic women should also be under treatment during pregnancy. Early diagnosis and/or control of hyperthyroidism would decrease the incidence of complications during pregnancy.


Assuntos
Insuficiência Cardíaca/etiologia , Complicações Cardiovasculares na Gravidez/etiologia , Tireotoxicose/complicações , Adulto , Feminino , Insuficiência Cardíaca/terapia , Humanos , Gravidez , Complicações Cardiovasculares na Gravidez/terapia , Resultado da Gravidez , Hormônios Tireóideos/sangue , Tireotoxicose/sangue , Tireotoxicose/terapia , Tireotropina/sangue
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