ABSTRACT
AIMS: Isolating a novel bacterial source of fructan from a saltern and analysis of its genome to better understand the possible roles of fructans in hypersaline environments. METHODS AND RESULTS: Bacteria were isolated from crude salt samples originating from Çamalti Saltern in Western Turkey and screened for fructanogenic traits in high-salt and sucrose-rich selective medium. Exopolysaccharide accumulated in the presence of sucrose by isolate OK12 was purified and chemically characterized via HPLC, FT-IR and NMR, which revealed that it was a levan-type fructan (ß-2,6 linked homopolymer of fructose). The isolate was taxonomically classified as Bacillus licheniformis OK12 through 16S rRNA gene and whole-genome sequencing methods. Strain OK12 harbours one levansucrase and two different levanase genes, which altogether were predicted to significantly contribute to intracellular glucose and fructose pools. The isolate could withstand 15% NaCl, and thus classified as a halotolerant. CONCLUSIONS: Fructanogenic traits in halotolerant B. licheniformis OK12 are significant due to predicted influx of glucose and fructose as a result of levan biosynthesis and levan hydrolysis, respectively. SIGNIFICANCE AND IMPACT OF THE STUDY: Fructans from the residents of hypersaline habitats are underexplored compounds and are expected to demonstrate physicochemical properties different from their non-halophilic counterparts. Revealing fructanogenic traits in the genome of a halotolerant bacterium brings up a new perspective in physiological roles of fructans.
Subject(s)
Bacillus licheniformis , Fructans/chemistry , Bacillus licheniformis/chemistry , Bacillus licheniformis/classification , Hexosyltransferases/genetics , Hydrolysis , RNA, Ribosomal, 16S/genetics , Sodium Chloride , Spectroscopy, Fourier Transform Infrared , Sucrose , TurkeyABSTRACT
AIMS: To investigate the root canal anatomy and the incidence of fused roots in maxillary first molar (MFM) and maxillary second molar (MSM) teeth in the Turkish population and compare them to teeth with separate roots using cone-beam computed tomography (CBCT). METHODS: CBCT images of 616 MFMs and 703 MSMs were analyzed from 402 patients for the number of roots and the presence of fusion. The canal configuration of teeth with separate and fused roots was compared. Type of fusion and canal merging positions were determined. A P value of less than 0.05 was considered significant. RESULTS: Five hundred and seventy-one (92.69%) MFMs had three separate roots, one (0.16%) had four roots and the incidence of root fusion was 7.14%. An additional mesiobuccal (MB) canal was present in 79.34% of the teeth with three separate roots. There was no merging of canals in 36 of 44 teeth with fused roots. The prevalence of fusion was higher in the MSMs (23.47%). The incidence of three and four separate roots in MSM teeth was 74.68% and 1.85%, respectively. The prevalence of additional MB canals in teeth with three separate roots was 53.14%. There was no canal merging in 60% of the fused rooted teeth. There were two-merged canals in 31.52% and multiple merged canals in 8.48% of the MSMs. CONCLUSIONS: In the Turkish population, the incidence of root fusion in the MFMs and MSMs was 7.14% and 23.47%, respectively, with more canal merging in the MSMs.
Subject(s)
Homosexuality, Male , Sexual and Gender Minorities , Cone-Beam Computed Tomography , Dental Pulp Cavity/diagnostic imaging , Humans , Male , Maxilla/diagnostic imaging , Molar/diagnostic imaging , Tooth Root/diagnostic imagingABSTRACT
AIM: In this study, we aimed to investigate the effects of Ultrasonic Coagulation (UC), Bipolar Energy Sealing System (BESS), Intra Operative Nerve Monitoring (IONM) and surgical experience on the complications of thyroid surgery. METHOD: The data of 1627 patients who underwent thyroid surgery for various indications in our department between 2009 and 2018 were analyzed retrospectively and the effects of different technological devices on complications were investigated. RESULTS: Transient recurrent laryngeal nerve (RLN) palsy was higher between 2009 and 2013, when IONM was not in routine use (p=0.029). There were no significant differences between two energy devices (UC and BESS) in terms of transient or permanent RLN palsy, bleeding, and transient or permanent hypocalcemia. Multivariate analysis showed that young age (0.006), female gender (0.016), surgery type (p<0.001), and lateral neck dissection (p=0.026) are independent risk factors for transient hypocalcemia. CONCLUSION: The results indicate that there is no superior hemostatic device. IONM and specific branching decrease transient RLN palsy. Female gender, young age, completion thyroidectomy, and lateral neck dissection were independent risk factors for the development of transient hypocalcemia.
ABSTRACT
Covid-19 pandemic is spreading rapidly in Turkey. We aimed to examine the numbers and demographic data of patients who applied to the general surgery outpatient clinics and operated in this process. Our primary outcome is to reveal the response of general surgery patients to the Covid-19 pandemic.The first Covid-19 case in Turkey has appeared in March 11, 2020. Patients who were operated on due to a surgical emergency or trauma were evaluated separately. Patients in 3 periods were compared with each other. A total of 12728 patients were examined in general surgery outpatient clinics in 26 working days. It is seen that patients come to the outpatient clinic after the first time the Covid-19 patient is seen. All patients reduced hospitalization after the first death due to Covid-19. Women had reduced going to the hospital earlier than men. There was no change in the number of emergency surgeries. Rapid decrease was observed in the number of elective surgeries.It is not easy to control the entrance and exit of these busy hospitals. The remote diagnosis (mail, phone or video-call) and treatment methods that can be expected in the near future may be even closer with the Corona virus (Tab. 3, Fig. 4, Ref. 15). Keywords: general surgery, Covid-19, outpatient clinics, operation, reaction of patients.
Subject(s)
Betacoronavirus , Coronavirus Infections , Hospitalization , Pandemics , Pneumonia, Viral , Ambulatory Care Facilities , COVID-19 , Female , Humans , Male , SARS-CoV-2 , TurkeyABSTRACT
AIM: Prevalence rates of gestational diabetes mellitus (GDM) show considerable variation among different countries and regions of the world. The primary aim of this study was to determine the nationwide prevalence and predictors of GDM in Turkey. METHODS: We conducted prospective nationwide screening among pregnant women. Between August 2016 and November 2017, a total of 2643 pregnant women from 51 centres in 12 different regions were enrolled. A two-step screening method and Carpenter and Coustan criteria were used in the diagnosis of GDM. Clinical and biochemical data were obtained using electronic database software. RESULTS: The national prevalence of GDM was found to be 16.2% [95% confidence intervals (CI) 15.0% to 17.4%] without a significant difference between urban and rural regions. Women with GDM were older (mean age: 32 ± 5 vs. 28 ± 5 years, P < 0.001) and heavier (mean BMI: 27.2 ± 5.1 vs. 24.7 ± 4.7 kg/m2 , P < 0.001) than their counterparts without GDM. The prevalence of GDM tended to increase with age (< 25 years, 6.9%; 26-35 years, 15.6%; and 36-45 years, 32.7%; P < 0.001). Maternal age, maternal BMI, history of previous GDM and family history of diabetes mellitus were independent predictors of developing GDM (P < 0.05 for all). Low-risk women (age < 25 years, BMI < 25 kg/m2 , no family history of diabetes) comprised 10.7% of the total population and the prevalence of GDM in these women was 4.5% (95% CI 2.4% to 7.8%). CONCLUSION: The results of this nationwide study indicate that GDM is very common, affecting one in seven pregnancies in Turkey. Implementation of international guidelines on screening and management of this public health problem is required.
Subject(s)
Diabetes, Gestational/epidemiology , Adult , Body Mass Index , Female , Humans , Maternal Age , Middle Aged , Parity , Pregnancy , Prevalence , Prospective Studies , Risk Factors , Turkey/epidemiology , Young AdultABSTRACT
OBJECTIVE: A well-functioning renal transplant usually reverses ESRD-related infertility and allows the reproductive function to improve. In this study, we wanted to emphasize that women who have renal transplantation can live healthy pregnancies with a careful follow-up. BACKGROUND: 204 patients underwent renal transplantation in our center and 84 of them were female. Five of our patients (one of them had two births) gave birth to a total of 6 pregnancies. METHOD: All of these patients were evaluated according to the criteria by the organ transplant team and perinatologist before the pregnancy planning and during the pregnancy processes. RESULTS: The mean age of the patients was 22.5 ± 4.5 (18-29) years. The creatinine level was below in 1.5 mg/dl in all patients in the pre-pregnancy period, and 1 + proteinuria was found in only two of them. Pregnancy periods varied between 31 weeks and 38 weeks. All births were performed by cesarean section and birth weight in babies ranged between 1650 and 3190 gram. CONCLUSION: Pregnancy in the renal transplant recipient is high-risk and should be managed by a multidisciplinary team of high-risk obstetricians, perinatalogists and transplant nephrologists. It should be closely monitored in terms of complications during pregnancy (Tab. 5, Ref. 16).
Subject(s)
Kidney Transplantation , Pregnancy Complications , Adolescent , Adult , Birth Weight , Cesarean Section , Female , Humans , Pregnancy , Pregnancy Outcome , Young AdultABSTRACT
We have investigated the effect of a poly (3-hexylthiophene-2.5-diyl)(P3HT)-graphene bilayer electrode on the photoresponsivity characteristics of Si-based Schottky photodetectors. P3HT, which is known to be an electron donor and absorb light in the visible spectrum, was placed on CVD grown graphene by dip-coating method. The results of the UV-vis and Raman spectroscopy measurements have been evaluated to confirm the optical and electronic modification of graphene by the P3HT thin film. Current-voltage measurements of graphene/Si and P3HT-graphene/Si revealed rectification behavior confirming a Schottky junction formation at the graphene/Si interface. Time-resolved photocurrent spectroscopy measurements showed the devices had excellent durability and a fast response speed. We found that the maximum spectral photoresponsivity of the P3HT-graphene/Si photodetector increased more than three orders of magnitude compared to that of the bare graphene/Si photodetector. The observed increment in the photoresponsivity of the P3HT-graphene/Si samples was attributed to the charge transfer doping from P3HT to graphene within the spectral range between near-ultraviolet and near-infrared. Furthermore, the P3HT-graphene electrode was found to improve the specific detectivity and noise equivalent power of graphene/Si photodetectors. The obtained results showed that the P3HT-graphene bilayer electrodes significantly improved the photoresponsivity characteristics of our samples and thus can be used as a functional component in Si-based optoelectronic device applications.
ABSTRACT
OBJECTIVES: To evaluate the parenchymal elasticity of the thyroid gland with acoustic radiation force impulse imaging in pediatric patients with Hashimoto thyroiditis and to compare it with healthy volunteers. METHODS: Twenty-six patients with Hashimoto thyroiditis and 26 healthy volunteers between 6 and 17 years were included. The shear wave velocity (SWV) values of both thyroid lobes in both groups were evaluated. RESULTS: The age and sex characteristics of the controls and patients with Hashimoto thyroiditis were similar. The SWV of the thyroid gland in patients with Hashimoto thyroiditis (mean ± SD, 1.67 ± 0.63 m/s) was significantly higher than that in the control group (1.30 ± 0.13 m/s; P < .001). There was no significant difference between the thyroid lobes in both groups. A receiver operating characteristic curve analyses showed an optimal cutoff value of 1.41 m/s, with 73.1% sensitivity, 80.8% specificity, a 79.2 % positive predictive value, and a 75.0% negative predictive value (area under the curve, 0.806; P < .001). In patients with Hashimoto thyroiditis, there was a positive correlation between the SWV values versus anti-thyroperoxidase (Pearson r = 0.46; P = .038). There were no correlations between age, body mass index, thyroid function test results, and anti-thyroglobulin values and versus SWV values. Also, no significant differences were seen between the groups for gland size, gland vascularity, and l-thyroxine treatment. CONCLUSIONS: Acoustic radiation force impulse elastography showed a significant difference in the stiffness of the thyroid gland between children with Hashimoto thyroiditis and the healthy group. Using acoustic radiation force impulse elastography immediately after a standard ultrasound evaluation may predict chronic autoimmune thyroiditis.
Subject(s)
Elasticity Imaging Techniques/methods , Hashimoto Disease/diagnostic imaging , Hashimoto Disease/physiopathology , Thyroid Gland/diagnostic imaging , Thyroid Gland/physiopathology , Adolescent , Child , Diagnosis, Differential , Female , Humans , Male , Reproducibility of ResultsABSTRACT
The purpose of this study is to evaluate the impact of RS-EPI-DWI in the detection of cholesteatoma and to compare with single-shot echo-planar DWI (SS-EPI-DWI). Diffusion-weighted and apparent diffusion-coefficient (ADC) images were obtained using RS-EPI and SS-EPI techniques in 30 patients. Presence of cholesteatoma (3 point scale), amount of artefacts (4 point scale), visibility (4 point scale), and ADC values of the lesions were assessed. The results of both techniques were compared with each other and gold-standard (GS) test results. Lesion visibility and presence of artefact scores of RS-EPI-DWI group were significantly different from those of the SS-EPI group. RS-EPI-DWI images had fewer artefacts and higher visibility scores. The sensitivity, specificity, negative/positive-predictive, and overall-agreement values of RS-EPI-DWI technique were 100%, 78%, 100%, 74%, and 87%; respectively. These values for SS-EPI-DWI technique were 91%, 60%, 88%, 67%, and 75%; respectively. Also, these values were higher on axial plane than coronal plane images for ADC measurements. Based on gold-standard test findings, agreement values were good (κ=0.74) for RS-EPI-DWI and moderate for SS-EP-DWI (κ=0.50) techniques (P<0.001 for both). The RS-EPI-DWI technique allows a higher spatial-resolution and this technique is less susceptible to artefacts when compared with SS-EPI technique.
Subject(s)
Cholesteatoma/diagnostic imaging , Diffusion Magnetic Resonance Imaging/methods , Echo-Planar Imaging/methods , Adolescent , Adult , Aged , Artifacts , Child , Female , Humans , Image Enhancement/methods , Imaging, Three-Dimensional/methods , Male , Middle Aged , Predictive Value of Tests , Sensitivity and SpecificityABSTRACT
Hypothyroidism is a common endocrine disease with characteristic symptoms and signs such as fatigue, weight gain, intolerance of cold, constipation, depression, mental slowdown and muscle cramps. Myopathic changes are observed in 30-80% of patients with hypothyroidism, but muscular hypertrophy with muscle stiffness has been reported in less than 10% of patients. Hoffmann's syndrome is a specific form of the hypothyroid-associated myopathy, rarely seen. Symptoms of this syndrome include proximal muscle weakness, hypertrophies in extremities, stiffness, muscle cramps, spontaneous muscle pain; and are associated with increased muscle enzymes. These findings can be seen at any time during hypothyroidism. Hofmann's syndrome has a very good prognosis. Its response to hormone replacement therapy is very good. Therefore, in patients with myopathy-like symptoms, considering in the differential diagnosis that the myopathy may be a reflection of hypothyroidism will facilitate the diagnosis and treatment. In this case, we aimed to present together Hashimoto thyroiditis and muscular hypertrophy, which is an atypical presentation of hypothyroidism and rarely seen in the literature, namely Hoffmann's syndrome.
ABSTRACT
INTRODUCTION: Irisin is a recently discovered novel adipomyokine that induces an increase in total body energy expenditure, improves insulin sensitivity and glucose tolerance. It has been shown that circulating levels of irisin are low in patients with obesity, diabetes mellitus and impaired glucose tolerance. However, the information about the level of circulating irisin in gestational diabetes mellitus (GDM) is controversial. MATERIAL AND METHODS: Serum irisin was measured by an ELISA in a longitudinal prospective cohort study in 221 women. There were 156 healthy pregnant and 65 women with GDM. RESULTS: Circulating irisin levels were significantlly higher in the middle pregnancy compared with early pregnancy levels in healthy pregnant women and in women with GDM. Serum irisin levels were found to be lower in GDM compared to healthy pregnant women during first trimester but the difference was not observed throughout the pregnancy and it was comparable in middle pregnancy. There was a significant inverse correlation of BMI with serum irisin (r = -0.193, p = 0.004) and between HbA1c and mean glucose of OGTT with serum irisin (r =-0.377, p =0.0001) and (r = -0.147, p:0.03) in the early pregnancy of pregnant women repectively. CONCLUSIONS: The present study shows that serum irisin level increases throughout the gestational period from early to middle pregnancy in women with GDM, but there is no effect of irisin on the development of GDM.
ABSTRACT
PURPOSE: Atrial fibrillation (AF) is the most common form of arrhythmia. AF leads to electrical remodelling and fibrosis of the atria; however, the mechanism(s) remain poorly understood. Galectin-3 is a potential mediator of cardiac fibrosis. The present study aimed to examine the relationship between serum galectin-3 levels and paroxysmal AF. METHODS: Forty-six patients with paroxysmal AF and preserved left ventricular systolic function, and 38 age- and gender-matched control subjects, were involved in the study. Serum galectin-3 levels were analyzed with an enzyme-linked immunosorbent assay (ELISA). RESULTS: Serum galectin-3 levels (median 1.38 ng/mL; 1.21 ng/mL-1.87 ng/mL; p< 0.001) were significantly elevated in patients with paroxysmal AF compared with the control. Left atrial diameter was significantly higher in patients with paroxysmal AF (41.2±3.0 mm vs. 39.6±3.3 mm). Left atrial diameter was found to be significantly correlated with serum galectin-3 levels in patients with paroxysmal AF (r= 0.378, p= 0.001). CONCLUSION: Serum galectin-3 levels are significantly elevated and significantly correlated with left atrial diameter in patients with paroxysmal AF.
Subject(s)
Atrial Fibrillation/blood , Galectin 3/blood , Aged , Atrial Fibrillation/pathology , Atrial Fibrillation/physiopathology , Biomarkers/blood , Blood Proteins , Female , Galectins , Heart Atria/pathology , Humans , Male , Middle Aged , Ventricular FunctionABSTRACT
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Disorders/genetics , Dandy-Walker Syndrome/genetics , Hirschsprung Disease/genetics , Holoprosencephaly/genetics , Chromosome Deletion , Chromosomes, Human, Pair 13/genetics , Humans , Infant , MaleABSTRACT
We treated 42 hips with symptomatic acetabular dysplasia using triple pelvic osteotomy. The mean age of the patients was 20.7 years (12-47). The median follow-up was 50.3 months. The average Harris hip score improved from 74 to 92 points. Significant improvement from the preoperative to the latest follow-up evaluation was seen radiologically with reference to the center-edge angle, the anterior center-edge angle, the acetabular index and the femoral head extrusion index. Shenton's line was intact in 9 hips before the operation and it was intact in 40 hips at the latest follow-up. The cross-over sign was present in 15 hips before the operation and it was present in one hip after the operation. The results of this study demonstrated that triple pelvic osteotomy provides improved radiographic results and good symptomatic relief in acetabular dysplasia.
Subject(s)
Hip Dislocation, Congenital/surgery , Ilium/surgery , Ischium/surgery , Osteotomy/methods , Pubic Bone/surgery , Acetabulum/diagnostic imaging , Adolescent , Adult , Child , Female , Follow-Up Studies , Hip Dislocation, Congenital/diagnostic imaging , Humans , Ilium/diagnostic imaging , Ischium/diagnostic imaging , Male , Middle Aged , Postoperative Complications/epidemiology , Pubic Bone/diagnostic imaging , Radiography , Remission, Spontaneous , Retrospective Studies , Sciatic Neuropathy/epidemiology , Young AdultABSTRACT
OBJECTIVES: This study was aimed to demonstrate the thioredoxin reductase (TrxR) activities and Hypoxia-Inducible Factor 1 alpha (HIF-1α) levels in macrophage cell line incubated in aerobic and anaerobic settings. BACKGROUND: Pathological situations including inflammatory disorders are associated with the infiltration of phagocyte system cells into damaged tissues. Whenever the environment of tissues converts into hypoxic conditions, phagocytic cells develop an adaptive mechanism in order to fulfill their defense functions. MATERIALS AND METHODS: The macrophage cells were prepared as two replications both for aerobic and anaerobic media. The E. coli bacteria were inoculated onto the some macrophage culture mediums. TrxR and HIF-1α levels of the samples, obtained from all growth cultures, were measured with the ELISA. RESULTS: On the 5th and 6th day, there was a continuous increase in the count of bacteria in the aerobic medium, while a continuous decrease in the count of bacteria in the anaerobic medium.The TrxRand the HIF-1α levels in the groups with anaerobic and aerobic macrophages with or without E. coli bacteria were evaluated. A statistically significant difference was found between these groups in terms of TrxR and HIF-1α levels (p < 0.05). CONCLUSIONS: Increased TrxR and HIF-1α levels were thought to have an effect on the adaptation of the macrophages in the anaerobic environment (Tab. 5, Fig. 2, Ref. 23).
Subject(s)
Hypoxia-Inducible Factor 1, alpha Subunit/metabolism , Macrophages/metabolism , Thioredoxin-Disulfide Reductase/metabolism , Adaptation, Biological , Animals , Cell Culture Techniques/methods , Cell Hypoxia , Cell Line , Escherichia coli/physiology , Macrophage Activation/physiology , Mice , Phagocytosis/physiologyABSTRACT
BACKGROUND: Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms by impairing folate metabolism may influence the development of allergic diseases. The results of studies evaluating the relationship between MTHFR polymorphisms and atopic disease are controversial. The aim of this study was to investigate the association between the polymorphisms of C677T and A1298C for MTHFR gene and allergic rhinitis (AR) in children. METHODS: Ninety patients followed up with diagnosis of allergic rhinitis in our clinic and 30 children with no allergic diseases were included in the study. All participants were genotyped for the MTHFR (C677T) and (A1298C) polymorphisms. Vitamin b12, folate and homocysteine levels were measured. RESULTS: The mean age of patients was 9.2±2.9 years; 66.7% of the patients were male. There was no significant difference between patient and control groups regarding gender, age and atopy history of the family (p>0.05). The frequency of homozygotes for MTHFR C677T polymorphism in the patient and control groups was 3.3% and 10%, respectively. The frequency of homozygotes for MTHFR A1298C polymorphism among groups was 26.7% and 16.7%, respectively. The association between allergic rhinitis and polymorphisms of C677T and A1298C for MTHFR gene was not statistically significant in patients compared with controls (p>0.05). There were no statistically significant differences between the patients and the control group in terms of serum vitamin b12, folate and homocysteine levels (p>0.05). CONCLUSION: We found no evidence for an association between allergic rhinitis and polymorphisms of C677T and A1298C for MTHFR gene in children. Further studies investigating the relationship between MTHFR polymorphism and AR are required.
Subject(s)
Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Mutation/genetics , Rhinitis, Allergic/genetics , Child , Child, Preschool , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Homocysteine/blood , Homozygote , Humans , Male , Polymorphism, Single Nucleotide , Vitamin B 12/bloodABSTRACT
The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autisticlike with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The present case was referred at the age of 8 months because of delayed psychomotor development, hypotonia and autistic features. Clinical examination showed a small forehead, long eyelashes, epicanthal folds and lowset ears, large and broad hands and feet with short terminal phalanges. He had no eye contact and could not sit without support.
Subject(s)
Chromosome Deletion , Chromosome Disorders , Chromosome Disorders/genetics , Chromosome Disorders/pathology , Chromosome Disorders/physiopathology , Chromosomes, Human, Pair 22/genetics , Humans , Infant , MaleABSTRACT
We report a patient with a rare de novo duplication of 12q23.1-12q24.33 region with a 32.7 Mb gain, having similar features seen in previously reported isolated cases of duplications of the 12q23q24 region, such as growth retardation, neuromotor retardation, corpus callosum agenesis, dysmorphic features such as, hypertelorism, epicanthus, flat nasal bridge, low-set small ears, down-turned corners of the mouth, micrognathia, cryptorchidism and limb anomalies such as pes plano valgus, prominent heels and overriding toes. Our patient has Noonan-like features, such as short stature, short neck, epicanthal folds, ptosis of eyelids, hypertelorism, pectus excavatum, widely spaced nipples and cryptorchidism. Duplication of PTPN11 gene has been postulated as a mechanism for the Noonan syndrome. Phenotypic features and the genes involved in this region are important to further delineate the 12q23q24 phenotype.
Subject(s)
Gene Duplication/genetics , Noonan Syndrome/diagnosis , Noonan Syndrome/genetics , Trisomy/diagnosis , Trisomy/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Child, Preschool , Chromosomes, Human, Pair 12/genetics , Humans , In Situ Hybridization, Fluorescence , MaleABSTRACT
We present a 9 month-old baby girl with de novo pure interstitial duplication 1q. The girl has dysmorphic craniofacial features as well as neuromotor retardation, multiple subcutaneous solid tissue lesions, urogenital anomalies, cardiac defect, liver parenchyma heterogeneity and intracranial anomaly. The case of de novo duplication of 1q32q42 defined by G-banding and Microarray Comparative Genomic Hybridization (Microarray CGH) was presented with its clinical findings.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Duplication/genetics , Chromosomes, Human, Pair 1/genetics , Developmental Disabilities/genetics , Chromosome Banding , Comparative Genomic Hybridization , Female , Humans , InfantABSTRACT
Crimean-Congo haemorrhagic fever (CCHF) is endemic in Turkey, and since 2004 many cases have been reported from different regions of Turkey. There are limited data about the seroprevalence of the disease in household members of patients or persons sharing the same environment. We evaluated seroprevalence of CCHF in the immediate neighbourhood and in household members of patients living in the same environment as confirmed cases of CCHF in an endemic area of Turkey. A total of 625 healthy subjects [mean (s.d.) age: 42·3 (18·4) years, 58·7% females] without a past history of CCHF infection included in this case-control, retrospective study were evaluated in terms of sociodemographic characteristics, risk factors for CCHF via a study questionnaire, while serum analysis for CCHF virus (CCHFV) IgG antibodies was performed by ELISA. Anti-CCHFV IgG antibodies were positive in 85 (13·6%) participants. None of the seropositive individuals had a history of symptomatic infection. Regression analysis revealed that animal husbandry [odds ratio (OR) 1·84, 95% confidence interval (CI) 1·09-3·11], contact with animals (OR 2·31, 95% CI 1·08-5·10), contact with ticks (OR 3·45, 95% CI 1·87-6·46), removing ticks from animals by hand (OR 2·48, 95% CI 1·48-4·18) and living in a rural area (OR 4·05, 95% CI 1·65-10·56) were associated with increased odds of having IgG seropositivity, while being a household member of a patient with prior CCHF infection had no influence on seropositivity rates. This result also supports the idea that CCHF is not transmitted person-to-person by the airborne route.