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1.
Eur Rev Med Pharmacol Sci ; 27(5): 2132-2142, 2023 03.
Article in English | MEDLINE | ID: mdl-36930513

ABSTRACT

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.


Subject(s)
COVID-19 , Male , Humans , Female , Aged , COVID-19/epidemiology , COVID-19/prevention & control , Hospitalization , Intensive Care Units , Hospitals , Critical Care
2.
J Orofac Orthop ; 84(Suppl 3): 186-199, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36107224

ABSTRACT

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%.

3.
Niger J Clin Pract ; 25(12): 1998-2004, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36537457

ABSTRACT

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.


Subject(s)
Heart Arrest, Induced , Troponin T , Humans , Adult , Crystalloid Solutions , Heart Arrest, Induced/methods , Coronary Artery Bypass/methods , Length of Stay
4.
Balkan J Med Genet ; 23(2): 25-34, 2020 Nov.
Article in English | MEDLINE | ID: mdl-33816069

ABSTRACT

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.

5.
Schizophr Bull ; 43(1): 197-204, 2017 01.
Article in English | MEDLINE | ID: mdl-27665001

ABSTRACT

Balance between the redox pair of nicotinamide adenine dinucleotides (oxidized NAD+ and reduced NADH), reflects the oxidative state of cells and the ability of biological systems to carry out energy production. A growing body of evidence suggests that an "immuno-oxidative" pathway including oxidative stress, mitochondrial dysfunction, neuroinflammation, and cell-mediated immune response may contribute to disruptions in brain activity in schizophrenia (SZ). The aim of this study is to assess possible redox imbalance in SZ patients by using a novel in vivo 31P MRS technique. The participants included 40 healthy controls, 21 chronic SZ, 13 first-episode (FE) SZ, and 18 FE bipolar disorder (BD) patients (as a psychiatric control group). All participants initially underwent structural imaging at a 3 Tesla (3 T) and 31P MRS measurements were performed on a 4 T MR scanner. NAD+ and NADH components were determined by nonlinear least-square fitting of the model simulated spectra; these incorporated prior chemical shift and coupling constant information to in vivo resonances obtained from 31P MRS experiments. We found a significant reduction in the NAD+/NADH ratio in chronically ill SZ patients compared to a matched healthy control group, and in FE SZ patients compared to both a matched FE BD patient group and a matched healthy control group. These findings provide evidence for redox imbalance in the brain in all phases of SZ, potentially reflecting oxidative stress.


Subject(s)
Bipolar Disorder/metabolism , Magnetic Resonance Spectroscopy/methods , NAD/metabolism , Oxidative Stress , Schizophrenia/metabolism , Adult , Bipolar Disorder/diagnostic imaging , Humans , Oxidation-Reduction , Schizophrenia/diagnostic imaging
6.
Indian J Cancer ; 53(1): 39-42, 2016.
Article in English | MEDLINE | ID: mdl-27146736

ABSTRACT

BACKGROUND: The objectives of the present study were to compare the effect of adjuvant chemotherapy for breast cancer on serum insulin levels, serum leptin levels, and body composition in early stage breast cancer patients. MATERIALS AND METHODS: 17 breast cancer patients underwent 6 cycles of docetaxel (75 mg), epirubicine (100 mg) and cyclophosphamide (500 mg) (TEC). Anthropometrical and foot-to-foot body fat analyzer BIA, serum glucose, insulin, lipids, HOMA-IR and leptin were compared pre- and post-treatment. RESULTS: There was no statistically significant weight gain after treatment; however, there was an overall trend toward weight gain (69.7 ± 9.8 kg vs 71.03 ± 9.8; P= 0.05). From baseline to the end of the study, percentage of body fat and body fat mass showed an upward trend at the end of chemotherapy (1%; 2 kg P> 0.05). Pre and post-treatment period, leptin was strongly correlated with insulin and HOMA-IR (Spearman's pre-T; r = 0.74; P <0.001, r = 0.66; P = 0.004 post-T; r = 0.549; P =0.022, r = 0.51; P =0.036, respectively). Insulin levels were significantly increased in the post-treatment period (P < 0.05). On correlation analysis, post-T insulin levels were correlated with leptin, weight, fat-mass and fat percentage (Spearman's r = 0.549; P=.022, r = 0.567; P= 0.018, r = 0.498, P= 0.042, r = 0.502; P= 0.040, respectively). DISCUSSION: High insulin and leptin levels, important factors that were previously shown to be related to breast cancer outcome, and insulin resistance may be increased in taxane based chemotherapy regimen. These data may have broad implications for diet and lifestyle strategies for the prevention and treatment of cancers.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Body Composition/drug effects , Breast Neoplasms/blood , Breast Neoplasms/drug therapy , Insulin/blood , Leptin/blood , Breast Neoplasms/pathology , Chemotherapy, Adjuvant , Cyclophosphamide/administration & dosage , Docetaxel , Epirubicin/administration & dosage , Female , Humans , Middle Aged , Neoplasm Staging , Taxoids/administration & dosage
7.
Behav Processes ; 121: 13-20, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26484709

ABSTRACT

High levels of impulsivity have been linked to a number of psychiatric disorders, including attention-deficit/hyperactivity disorder, drug abuse and schizophrenia. Additionally, schizophrenia patients commonly show deficits in another rather preattentive form of response inhibition, called sensorimotor gating. Given that higher-order functions, such as impulse control, are protected by early and preattentive processes, disturbed gating mechanisms may hamper more complex cognitive-executive functions. In the present study, we therefore tested whether high levels of impulsivity are accompanied by impaired sensorimotor gating in rats. High (HI) and low impulsive (LI) rats were identified based on the number of premature responses in the 5-choice serial reaction time task. Here, LI rats showed higher numbers of omission errors which may suggest attentional deficits while HI rats completed significantly less trials which could indicate a decrease in motivation. However, HI and LI rats did not differ in terms of impulsive decision-making in a delay-based decision-making T-maze task, prepulse inhibition of the acoustic startle response (a measure of sensorimotor gating mechanisms) or locomotor activity levels. Overall, our data indicate that high motor impulsivity is not a suitable predictor of deficient sensorimotor gating and is further not necessarily associated with attentional deficits and/or locomotor hyperactivity in rats.


Subject(s)
Impulsive Behavior/physiology , Motor Activity/physiology , Sensory Gating/physiology , Acoustic Stimulation , Animals , Choice Behavior/physiology , Hyperkinesis/pathology , Male , Prepulse Inhibition/physiology , Rats , Rats, Wistar , Reaction Time/physiology , Reflex, Startle/physiology
8.
J Endocrinol Invest ; 38(3): 361-6, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25312836

ABSTRACT

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.


Subject(s)
Body Mass Index , Fibroblast Growth Factors/blood , Intra-Abdominal Fat/metabolism , Obesity/metabolism , Triglycerides/blood , Adult , Case-Control Studies , Female , Humans , Insulin Resistance/physiology , Obesity/blood , Pericardium , Premenopause
9.
Radiat Prot Dosimetry ; 158(2): 195-200, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23962699

ABSTRACT

Accident at Fukushima Daiichi Nuclear Power Plant (FDNPP) is one of the most serious accident in the world after Chernobyl accident. Following the continuing release of radionuclides in air after FDNPP, traces of fission products ((131)I, (134)Cs and (137)Cs) were recorded in the air filter and rain water samples collected from the ÇNAEM area at Istanbul on 4 April 2011. Airborne particle samples were collected daily in air filters and radio assayed with a high purity germanium detector. The fission products (131)I, (134)Cs and (137)Cs were measured with the maximum activity concentrations of 1.03±0.08, 0.25±0.03 and 0.23±0.03 mBq m(-3), respectively. For determination of the origin of the releases the (134)Cs/(137)Cs ratio was calculated between 1.09 and 0.85. The authors find removal times for (137)Cs of 8.13 d, (134)Cs of 7.25 d and (131)I of 6.82 d.


Subject(s)
Air Pollutants, Radioactive/analysis , Fukushima Nuclear Accident , Radioisotopes/analysis , Rain , Water Pollutants, Radioactive/analysis , Air Filters , Cesium Radioisotopes/analysis , Iodine Radioisotopes/analysis , Japan , Nuclear Power Plants , Radiation Monitoring , Turkey
10.
Andrologia ; 46(10): 1169-75, 2014 Dec.
Article in English | MEDLINE | ID: mdl-24354496

ABSTRACT

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.


Subject(s)
Ejaculation/drug effects , Nitric Oxide/metabolism , Paroxetine/therapeutic use , Premature Ejaculation/drug therapy , Selective Serotonin Reuptake Inhibitors/therapeutic use , Semen/metabolism , Sertraline/therapeutic use , Adult , Double-Blind Method , Ejaculation/physiology , Humans , Male , Paroxetine/pharmacology , Premature Ejaculation/metabolism , Sertraline/pharmacology , Treatment Outcome
11.
J BUON ; 18(3): 614-8, 2013.
Article in English | MEDLINE | ID: mdl-24065472

ABSTRACT

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.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Antioxidants/metabolism , Biomarkers, Tumor/metabolism , Breast Neoplasms/metabolism , Oxidative Stress , Adult , Aged , Breast Neoplasms/drug therapy , Breast Neoplasms/pathology , Cholesterol/blood , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Cyclophosphamide/administration & dosage , Docetaxel , Epirubicin/administration & dosage , Female , Follow-Up Studies , Humans , Middle Aged , Prognosis , Superoxide Dismutase/metabolism , Taxoids/administration & dosage , Thiobarbituric Acid Reactive Substances/metabolism , Triglycerides/blood
12.
Neuroscience ; 237: 268-76, 2013 May 01.
Article in English | MEDLINE | ID: mdl-23396088

ABSTRACT

Because of their favorable action profiles in humans, both memantine and melatonin are particularly interesting candidates as neuroprotectants in acute ischemic stroke. Until now, the signaling mechanisms mediating memantine's neuroprotective actions remained essentially uninvestigated. In addition, we have combined memantine with melatonin, which is a well-known neuroprotective molecule. Herein, we examined the effects of memantine (20mg/kg, i.p.) administered alone or in combination with melatonin (4 mg/kg, i.p.) on the activation of signaling transduction pathways, IgG extravasation and ischemic injury in mice submitted to 90 min of intraluminal middle cerebral artery occlusion, followed by 24h of reperfusion. In these studies, both agents reduced ischemic injury and the density of DNA-fragmentation. Notably, melatonin/memantine combination reduced ischemic injury further as compared with memantine treatment, which was associated with reduced IgG extravasation, indicating vascular leakage in the brain. Animals receiving memantine exhibited elevated ERK-1/2 and decreased p21 and p38/MAPK activations, while it had no significant effect on phosphorylated Akt and SAPK/JNK1/2 in the ischemic brain. However, melatonin increased the activation of Akt and reduced the activations of ERK-1/2, p21, p38/MAPK and SAPK/JNK1/2 significantly. Synergistic effects of memantine and melatonin were observed in the inactivation of p21, p38/MAPK and SAPK/JNK1/2 pathways. Moreover, memantine reversed the effects of melatonin on the activation of ERK-1/2 pathway. Here, we provide evidence that free radical scavenger melatonin potentiates the effects of memantine on ischemic brain injury via inactivations of p21 and stress kinases p38/MAPK and SAPK/JNK1/2 pathways.


Subject(s)
Cerebral Infarction/drug therapy , Infarction, Middle Cerebral Artery/complications , Melatonin/therapeutic use , Memantine/therapeutic use , Neuroprotective Agents/therapeutic use , Signal Transduction/drug effects , Analysis of Variance , Animals , Cerebral Cortex/drug effects , Cerebral Cortex/metabolism , Cerebral Infarction/complications , Corpus Striatum/drug effects , Corpus Striatum/metabolism , DNA Fragmentation/drug effects , Disease Models, Animal , Immunoglobulin G/blood , Infarction, Middle Cerebral Artery/blood , Laser-Doppler Flowmetry , MAP Kinase Signaling System/drug effects , Male , Mice , Mice, Inbred C57BL , Phosphorylation/drug effects
13.
B-ENT ; 9(4): 285-91, 2013.
Article in English | MEDLINE | ID: mdl-24597103

ABSTRACT

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.


Subject(s)
Palate, Soft/surgery , Patient Satisfaction , Pharynx/surgery , Plastic Surgery Procedures/methods , Sleep/physiology , Snoring/surgery , Uvea/surgery , Adult , Female , Follow-Up Studies , Humans , Male , Postoperative Period , Prospective Studies , Snoring/physiopathology , Time Factors , Treatment Outcome
15.
Fetal Diagn Ther ; 30(2): 141-9, 2011.
Article in English | MEDLINE | ID: mdl-21952353

ABSTRACT

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.


Subject(s)
Cytomegalovirus Infections/diagnostic imaging , Fetal Diseases/diagnostic imaging , Skull/diagnostic imaging , Ultrasonography, Prenatal , Biometry , Calcinosis/diagnostic imaging , Calcinosis/embryology , Cytomegalovirus Infections/congenital , Cytomegalovirus Infections/genetics , Female , Fetal Diseases/genetics , Fetal Diseases/virology , Gestational Age , Humans , Karyotyping , Lissencephaly/diagnostic imaging , Lissencephaly/embryology , Pregnancy , Skull/embryology
16.
Genet Couns ; 22(1): 25-34, 2011.
Article in English | MEDLINE | ID: mdl-21614985

ABSTRACT

We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously.


Subject(s)
Albinism, Oculocutaneous/genetics , Craniofacial Abnormalities/genetics , Cryptorchidism/genetics , Glaucoma/genetics , Intellectual Disability/genetics , Albinism, Oculocutaneous/diagnosis , Ataxia/diagnosis , Ataxia/genetics , Brain/abnormalities , Brain/pathology , Child Development Disorders, Pervasive/diagnosis , Child Development Disorders, Pervasive/genetics , Child, Preschool , Choristoma/diagnosis , Craniofacial Abnormalities/diagnosis , Cryptorchidism/diagnosis , Glaucoma/diagnosis , Humans , Intellectual Disability/diagnosis , Magnetic Resonance Imaging , Male , Syndrome
17.
Prenat Diagn ; 31(4): 356-9, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21321968

ABSTRACT

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.


Subject(s)
Kidney Diseases/diagnostic imaging , Pregnancy Outcome/epidemiology , Ultrasonography, Prenatal , Adult , Female , Follow-Up Studies , Gestational Age , Humans , Infant, Newborn , Infant, Newborn, Diseases/diagnostic imaging , Infant, Newborn, Diseases/epidemiology , Kidney/abnormalities , Kidney/diagnostic imaging , Kidney Diseases/congenital , Kidney Diseases/embryology , Kidney Diseases/epidemiology , Male , Pelvis/abnormalities , Pelvis/diagnostic imaging , Pregnancy , Prognosis , Ultrasonography, Prenatal/statistics & numerical data , Young Adult
18.
Genet Couns ; 22(4): 371-6, 2011.
Article in English | MEDLINE | ID: mdl-22303797

ABSTRACT

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.


Subject(s)
Blindness/chemically induced , Blindness/diagnosis , Enzyme Replacement Therapy/methods , Iduronidase/adverse effects , Iduronidase/therapeutic use , Mucopolysaccharidosis I/diagnosis , Mucopolysaccharidosis I/drug therapy , Adult , Drug Administration Schedule , Female , Follow-Up Studies , Humans , Infusions, Intravenous , Remission, Spontaneous
19.
B-ENT ; 6(3): 201-4, 2010.
Article in English | MEDLINE | ID: mdl-21090163

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/diagnosis , Cartilage Diseases/diagnosis , Hearing Loss/etiology , Pulmonary Valve Stenosis/diagnosis , Adult , Cartilage Diseases/complications , Female , Hearing Loss/diagnosis , Humans , Pulmonary Valve Stenosis/complications , Syndrome
20.
J BUON ; 15(3): 572-6, 2010.
Article in English | MEDLINE | ID: mdl-20941830

ABSTRACT

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.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Arginine/analogs & derivatives , Breast Neoplasms/drug therapy , Endothelin-1/blood , Adult , Aged , Arginine/blood , Body Mass Index , Breast Neoplasms/blood , Chemotherapy, Adjuvant , Docetaxel , Female , Humans , Lipids/blood , Middle Aged , Taxoids/administration & dosage
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