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48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia. He was the first and only child of nonconsanguineous parents. He had a history of mild developmental retardation. In his history, it was learned that he received treatment for gastroesophageal reflux and his symptoms improved with treatment. On physical examination, his weight was found to be 31 kg (>97 centile) and his height was found to be 123 cm (90 centile). He had upslanted palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome. © 2016 by Turkish Pediatric Association.

PubMed ID: 29485832, [No abstract available]

PubMed ID: 26422695, An improved understanding of the molecular mechanisms in asthma through exploring the role of microRNAs may offer promise to reveal new approaches for primary prevention and identification of new therapeutic targets in childhood asthma. The primary goal of this study is to identify the microRNAs that play a role in the pathogenesis of asthma in pediatric age group. The secondary goal is to analyze these microRNAs according to the asthma phenotype, atopic status, and severity of the disease exacerbation. To our knowledge, this is the first research project in the literature which studies the relationship between microRNA expression and the severity of childhood asthma. One hundred children between 6 and 18 years old with a diagnosis of asthma, and 100 age-matched healthy children were enrolled in this study, and the analyses of microRNA expression profiles were performed in the Medical Genetics Laboratories of Ege University between November 2009 and June 2010. The expression of 10 microRNAs were shown to be higher in patients with more severe asthma, and the expression of these microRNAs were also found to be higher in patients who present with more severe acute asthma exacerbation symptoms (P

WOS: 000090009800010, PubMed ID: 11083373, Acquired protein S deficiency and lupus anticoagulant have been described in children with varicella who had pul-pura fulminans. disseminated intravascular coagulation or thrombosis. The sim of this study was to investigate the natural anticoagulants, hypercoagulability markers, other parameters of coagulation and fibrinolytic systems, and the presence of the lupus anticoagulant in otherwise healthy children with acute varicella infection. Blood samples were obtained from 17 children with varicella without thrombosis during acute varicella infection and 1 mo after onset. Coagulation tests included determinations of the prothrombin time, the activated partial thromboplastin time. the thrombin time, the thrombin antithrombin complex, the prothrombin fragment F 1 + 2, the tissue plasminogen activator, the plasminogen activator inhibitor-1, protein C activity and free protein S antigen. Antiphospholipid antibodies were determined in enzyme-linked immunosorbent assays. The mean free protein S concentration in the acute phase (0.63 +/- 0.16 U/ml) was significantly lower than that of the concentration determined 1 mo later (0.82 +/- 0.17 U/ml). The children with acquired free protein S deficiency also had a lupus anticoagulant. Elevated concentrations of the prothrombin fragment F 1 + 2, the thrombin antithrombin complex, D-Dimer, tissue plasminogen activator and plasminogen activator inhibitor-1 were detected in most of the children. Conclusion: There is a significantly increased prevalence of lupus anticoagulant, a significantly reduced plasma concentration of free protein S and elevations in coagulation and fibrinolytic parameters in otherwise healthy children with acute varicella infection.

PubMed ID: 26852516, [No abstract available]

PubMed ID: 26349197, [No abstract available]

Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant disease characterized by new bone formation with in extraskeletal connective tissues and congenital malformations of the bigtoes. There have been described two types of FOP, classical and atypical. The heterozygous mutation (c.617GA; p.R206H) in ACVR1 gene, located at chromosome 2q23, has been discovered as there sponsible for classical FOP. A 5-year-old girl with FOP clinically diagnosed was found to have this recurrent mutation heterozygously. This case is reported to emphasize the importance of considering this rare syndrome on cases with similar symptoms. © Copyright 2015 by Turkiye Klinikleri.

PubMed ID: 26625669, [No abstract available]

Chronic Lymphocytic Leukemia (CLL) is the most common leukemia in adults. Recently CD38, ZAP70 and hTERT activity have been studied for the evaluation of the prognosis of CLL besides clinical staging and lymphocyte doubling time. There are inconsistent results regarding these markers for the evaluation of the prognosis in CLL patients. In this study CD38, ZAP70 and hTERT values in CLL patients were measured to make comparisons between each other and known prognostic factors. Thirty CLL patients who were included in the study were followed up for 5 years after the initial diagnosis. The mean hTERT value in CLL and control cases were 1.00±1.31 and 3.89±3.58, respectively (p< 0.05). The mean CD38 and ZAP70 were 6.20±7.60 and 5.51±5.67, respectively. No significant association was detected between CD38, ZAP70 and hTERT activity. There was no correlation between those parameters and known prognostic parameters such as Rai staging, peripheral lymphocyte levels, age, and sex of the patients, beta-2 microglobulin and reply to treatment in CLL. The overall five-year survival rate in CLL patients is 96.7%. The overall five-year survival rate in CLL patients is 96.7%. In conclusion, further studies including larger series of patients with longer follow-up periods are recommended. © 2014, UHOD - Uluslararasi Hematoloji Onkoloji Dergisi. All rights reserved.

Biotinidase deficiency is a hereditary disorder of biotin metabolism. The incidence of biotinidase deficiency is indicated as approximately 1/60 000. However, this disease is seen more frequently in Turkey. This enzyme allows the body to use and to recycle the B vitamin biotin. The main findings in biotinidase deficiency leads to nervous system and skin. Prompt diagnosis and early treatment prevents irreversible complications like hearing loss and optic atrophy. Identification of BTD gene mutations in individual patients is important to give genetic counseling and to browse other family members about this disease. In this study we present a non-symptomatic female patient with biotinidase deficiency who was diagnosed in the newborn screening. Biotinidase activity was determined 3% of the patient. BTD gene mutation analysis was performed and p.Q456H, c.1324delG (p.V442SfsX59) and p.D444H mutations were found. Mutations in the patient were assessed by parental mutation analysis. Copyright © 2014 by Türkiye Klinikleri.

Gen tedavisi, genel anlamda, bir hastalığı tedavi etmek ya da en azından bir hastanın klinik durumunu iyileştirmek amacıyla genetik materyalin hücrelere transferi olarak tanımlanır. Gen tedavisinin temel amacı, hedef hücrelere bir vektör aracılığı ile terapötik geni transfer etmektir. Gen tedavisinde en çok kullanılan vektörler, viral vektörlerdir. Adeno-assosiye virüs, retrovirüs, adenovirüs ve herpesvirüs vektörleri en sık uygulanan viral vektörlerdendir. Viral olmayan vektörler, viral vektörlerden daha az verimlidir, ancak düşük immünojenite ve büyük DNA parçalarını aktarabilmeleri onların avantajları olarak bilinir. Gen tedavisi hem somatik hem de eşey hücrelerinde uygulanılabilir. İlk kez 1982 yılında denenmeye başlayan, bir klinik uygulama olarak kabul edilen gen tedavisi, beklenenden daha hızlı gelişme göstererek çoğu bilim insanını kendine çekmiştir. Bu alandaki gelişmeler, ilk gen tedavisi ilaçlarının üretilmesini sağlamıştır. Örnek olarak kanser tedavisinde ve lipoprotein lipaz eksikliğinin tedavisinde kullanılması onaylanan ilaçlardan söz edilebilir. Ayrıca, Leber’in konjenital amorozisi (LCA) ve hemofili hastaları için üretilmiş gen tedavisi ilaçları şu anda faz III aşamasındadır. Bu derlemede, gen tedavisinin temel ilkeleri, tarihçesi ve günümüzdeki klinik uygulamaları son literatür verileri ışığı altında sunulmaktadır., Gene therapy generally can be defined as the transfer of genetic material in cells with the aim of treating diseases or at least improving the patient's clinical status. the basic aim of gene therapy is to transfer the therapeutic gene into target cells using a vector. the most widely used gene therapy vectors are viral vectors, like adeno-associated virus, retrovirus, adenovirus and herpesvirus vectors. Gene therapy can be applied to both somatic and germline cells. the first gene therapy study, considered as a clinical application, was performed in 1982. Because of the extensive developments in gene therapy, it has attracted so many scientists to this field faster than expected. the advances in this field have provided the first gene therapy products, for example, approved gene therapy drugs for cancer and lipoprotein lipase deficiency treatment can be mentioned. in addition, gene therapy drugs for patients with Leber's congenital amaurosis (LCA) and hemophilia is currently in phase III study. in this review, the basic principles, history and current clinical applications of gene therapy are presented with up to date literature.

Van der Woude syndrome is a congenital abnormality characterized by pits of the lower lip, cleft lip and/or palate. We report a female newborn infant in the first day of life who was diagnosed with Van der Woude syndrome having cleft lip and pits of the lower lip. Her mother also had pits of the lower lip.. Copyright © 2013 by Türkiye Klinikleri.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation and intellectual disability syndrome. SLOS is caused by DHCR7 mutations in the gene encoding for the delta 7 steroid reductase enzyme that converts 7-dehydrocholesterol to cholesterol. An 11-month-old boy was admitted to our clinic for failure to thrive, vomiting and ambiguous genitalia. SLOS was considered in the differential diagnosis due to clinical features and low serum cholesterol levels. Sequencing analysis of the DHCR7 gene showed a homozygous p.R352Q (c.1055 G>A) mutation in the patient. SLOS should be taken into consideration in cases with multiple congenital anomalies, ambiguous genitalia, and mental retardation combined with low cholesterol levels. © 2013 by Erciyes University School of Medicine.

PubMed ID: 23094532, Genetic factors are as important as environmental factors in susceptibility to brucellosis. Among these genetic factors, mannose-binding lectin (MBL) deficiency contributes to susceptibility to animal brucellosis. The aim of the study is to determine the influence of codon 54 polymorphisms in the MBL gene on susceptibility to brucellosis. Forty-three patients diagnosed with brucellosis and 106 healthy children were admitted in the study. In the patient group, 19 (44.2%) subjects had AA, 22 (51.1%) subjects had AB and 2 (4.6%) subjects had BB genotypes for codon 54 polymorphism. Eighty-two (77.4%) of the healthy children had AA genotype, while 24 (22.6%) had AB genotype. Our results revealed that genotype frequencies carrying MBL variant allele at codon 54 among the patients were significantly higher compared to those found in the control group (55.8% and 22.6%, respectively; p=0.0001, odds ratio [OR] =4.316, 95% confidence interval [CI]: 2.030-9.177). Our data suggest that children with MBL codon 54 AB or BB genotype are more susceptible to brucellosis.

PubMed ID: 22724884, Cystic fibrosis (CF) is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations p.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated.

PubMed ID: 22611646, [No abstract available]

For many years it has been well known that clinical features of infectious diseases vary widely from person to person. Individuals infected by the same pathogen at the same time show wide spectrum of disease's features changing from severe clinical findings to very mild symptoms or no symptoms. Recent advances in genetics and the use of new molecular methods to investigate host genetics -pathogens interaction have helped us to understand the etiopathogenetic mechanisms of infections. Susceptibility to infectious diseases may be caused by a defect in a single gene (monogenic) or defects in more than one gene (polygenic). Monogenic Immunodeficiencies are called primary immunodeficiencies (PID) or Mendelian susceptibility to infections. Majority of PID are inherited autosomal recessively. More than 200 PID have been defined to date. Possibly they are more common in our country because of high frequency of consanguineous marriages. Many pathogens cause severe clinical infections in cases with PID. Recently a number of monogenic immunodeficiencies resulting in Mendelian predisposition to a single type of infection have been described. EVER1 or EVER2 gene defects which causes fatal infections with human papilloma virus and IRAK4 defects which cause invasive pneumococcal disease are the examples of this group. Life threatening infectious diseases in early childhood are common in Monogenic PIDs. A number of genetic variants leading to increased resistance to certain infections have also been described. In polygenic susceptibility to infections severity of infectious disease varies widely. This type of susceptibility usually causes complex disease features in later life and it is mostly responsible for common infectious diseases. Contrubution of each gene to polygenic susceptibility is different. In some cases several genes may have major effects. This called oligogenic susceptibility. Studies have showed that not only genomic alterations but epigenetic factors also play roles in infection susceptibility. Studies investigating miRNAs have revealed that the expression levels of certain miRNAs are changed during infections. Moreover interaction between host miRNAs and viral RNAs is effective on clinical features. Recently antiinfection agents have been developed using RNA interference. In the future genetic tests will be extensively used in the diagnosis, follow-up and treatment of infectious disease.

Objective: This study aimed to determine VHL gene mutations and the relation of these mutations to type and pathological stage of renal tumors. Materials and methods: Forty patients (20 males, 20 females; mean age 59 years) who underwent ablative surgery for renal tumor prediagnosis between February 2009-November 2009 in of Ege University School of Medicine, Department of Urology were randomly selected. Twenty-nine of the patients underwent radical nephrectomy, 5 underwent partial nephrectomy, and 2 patients underwent laparoscopic radical nephrectomy. Four patients whose pathological outcome was not malign kidney tumor have been excluded from the study. Thirty-eight patients (21 males, 16 females; mean age 61 years) who underwent any surgeries in Department of Urology and showed no malignance suspicion in the same time period were included in control group. VHL gen mutations were analyzed preoperatively. Results: According to 2002 TNM staging, 8 (22%) patients were T1a, 11 (31%) patients were T1b, 3 (8%) patients were T2, 9 (25%) patients were T3a, 3 (8%) patients were T3b, and 2 (6%) patients were T4 stage. Twenty-eight (78%) patients were N0, 5 (14%) patients were N1, and 3 (8%) patients were N2. Five (14%) patients was at M1 stage. Histologically, 18 (50%) patients had clear cell carcinoma, 3 (8.3%) patients had chromofob cell carcinoma, and 3 (8.3%) patients had papillary cell type 1 carcinoma. Genetic analysis showed that 6 individuals had heterozygote change described previously as mutation (Q167Q and V181V linked heterozygote in 2 patients, P61P heterozygote in 2 patients, L129L heterozygote in 1 patient, and P61P heterozygote in 1 patient). None of these changes resulted in the change of aminoacids. Conclusion: VHL gene mutation was not detected in our study population, which may be result of the genetical characteristics of Turkish population or small sample size. The present study would be a pioneer for future studies on tumor tissue and VHL gene polymorphism in Turkish population.

PubMed ID: 21543297, Objective: We assessed the association between interleukin-10 (IL-10) -1082G/A and -592C/A polymorphisms, and coronary heart disease (CHD). Methods: A cross-sectional, observational study included 86 patients (mean age 43.36±4.930 years) diagnosed to have CHD and 88 healthy controls (mean age 47.07±8.135 years). IL-10 -1082G/A and -592C/A polymorphisms were analyzed using restriction fragment length polymorphism (RFLP) and agarose gel electrophoresis methods in both patient and control groups. Genotype distributions of the polymorphisms between CHD patients and controls were assessed by Chi-square analysis. Results: The genotype distribution of the -1082 G/A polymorphism was not different in premature CHD patients (GG: 38.3%; GA: 51.1%; AA: 10.6%) and controls (GG: 43.1%; GC: 43.1%; CC: 13.8%) (p=0.57). The prevalence of the A allele at -1082G/A polymorphism was 36.6% in patients and 35.3% in controls. Both allele and genotype frequencies of -592C/A polymorphism did not also differ significantly between patients with CHD and controls. We did not observe relationships between polymorphism-specific haplotypes and adverse angiographic and clinical outcomes. We have observed a significant difference of IL-10 -592C/A allelic frequency (OR=2.00 95% CI=0.9434-4.2579) between the younger CHD patients (

We report herein a very rare case of acute lymphoblastic leukemia having a chromosomal constitution of 48,XY,+X,+5,t(9;22)(q34;q11) in the bone marrow. A patient with additional chromosomes X and 5 with a Philadelphia chromosome has not been reported previously. However, no abnormal karyotype was obtained from the lymphocytes in our patient, and he did not have the characteristics of Klinefelter syndrome. He achieved a complete remission with IDA-FLAG and dasatinib therapy. The mechanism of trisomy 5 or any other chromosomal aneuploidy in the pathogenesis of leukemogenesis remains unclear. Further studies involving the genes affected by this karyotype and their products may lead to strategies to further increase the understanding of drug-resistant acute lymphoblastic leukemia and may represent the next frontier in the targeted therapy of those patients.

PubMed ID: 19129082, Vitiligo is a common skin disorder characterized by patterned depig-mentation, because of a decrease of melanin pigment resulting from apparent melanocyte loss. The aim of this study was to investigate interleukin 4 (IL4), Angiotensin Converting Enzyme (ACE), C-C Che-mocine Receptor 5 (CCR5), Cytotoxic T Lymphocyte-associated Anti-gen Receptor 4 (CTLA4) and Interleukin 1 Receptor Antagonist (ILl-RN) gene polymorphisms in 48 Turkish vitiligo patients and 50 healthy controls. Polymorphisms for the genes ACE insertion(I)/dele- tion(D), CCR5 (A32), ILl-RN (VNTR in intron 2) were detected by PCR methods. IL4 (-590) and CTLA4 (+49) gene polymorphisms were typed using PCR-RFLP methods. No significant differences in either the genotype distribution or allele frequencies of IL4, CCR5 and ACE gene polymorphisms were observed. GG genotype and G allele in CTLA4 genes were found to be significantly higher in vitiligo patients compared to the controls. (0.002, 0.000). CTLA4 (AA) and ILl-RN (1/5) genotypes and 5 allele frequency in the ILl-RN gene were found to be significantly lower in vitiligo patients compared to healthy controls (p: 0.014, 0.015, 0.016, respectively). As a conclu-sion, CTLA4 and ILl-RN genes might play roles in the genetic etiology of vitiligo.

PubMed ID: 18647516, Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome of unknown etiology. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. The characteristic dental findings include hypodontia, microdontia, absence of upper lateral and lower central incisors and upper molars, abnormal tooth shape, widely spaced teeth, ectopic upper molars and malocclusion. The purpose of this report is to describe common and additional dental findings and dental treatment of an 11-year old female patient with KS. This case report emphasises the importance of oral and dental manifestations for diagnosis.

In order to understand the function of the cell, which is the basic unit of human organism, the fundamentals of cell replication should be elucidated. Cell cycle checkpoints work in balance during the cell division process. The most important step in cell replication is to copy its own genetic material. During replication, mitosis lasts only 1 hour whereas 95% of the cell cycle process comprises the interphase. G1, S, G2 and M phases of the cell cycle are strictly controlled by the cell itself. Cell cycle checkpoints are sensitive to and control the errors that occur during the replication process, misegregation of the chromosomes, errors in DNA replication and any other errors that can occur during replication, thus maintaining the cell cycle. The molecules that have a role in the cell cycle and mitosis such as MPF (maturation promoting factor), cyclines and cell cycle inhibitors have very important functions, and proper maintenance of the cell cycle depends on the interaction between them. On the other hand, interaction between the different growth factors and cyclins during the switch to silent phase, the cell cycle inhibitors (p21 and TGF-ß) during the termination of the cell cycle, and the tumor suppressor genes (p53 and Rb) have major roles in the maintenance of the cell cycle. DNA packaging, chromosome condensation, formation of mitotic spindle and cytokinesis are under control during mitosis. In this review, the steps in mitosis and meiosis, the control points and the functions of major modulator molecules during the cell cycle are broadly reviewed with referral to recent findings. Copyright © 2007 by Türkiye Klinikleri.

PubMed ID: 17187628, [No abstract available]

PubMed ID: 15844775, A de novo T (X;8)(p11.2; q24.3) demonstrating Cornelia De Lange Syndrome phenotype: Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8)(p11.2; q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8)(p11.2; q24.3) was not reported so far in Cornelia de Lange syndrome.

We performed a retrospective study of 17 Turner's syndrome (TS) cases who were diagnosed prenatally in our Genetic Diagnostic Centre, Alsancak-Izmir, Turkey, during the period 2000-2005. The indications for prenatal diagnosis, ultra-sonographic findings and demographic data of the mothers were evaluated from patient records. The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17). Other indications were advanced maternal age, abnormal triple test [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (Estriol)] levels in the diagnosis of Down's syndrome and fetal growth retardation. A 45,X non-mosaic karyotype (14/17) was detected in 14 of these cases, while three showed mosaicism with the following karyotypes: 45,XO/46,XX, 45,XO/46,XY and 45,XO/46,X,del (X)(q21;qter), respectively.

PubMed ID: 15888380, [No abstract available], This study was supported by Research Foundation of Ege University (2003.FEN.28).

PubMed ID: 15844778, Two extra euchromatic bands in the qh region of chromosome 9: Chromosome analysis in a fetus revealed an abnormal appearance of chromosome 9. The secondary constriction region of chromosome 9 was very large and two separate G+ bands were observed within this region with GTG banding. Parents' karyotypes showed maternal inheritance of this variant chromosome 9. Two G+ bands were stained negative with C banding both in the fetus and in the mother. The mother was phenotypically normal. Regarding phenotypically normal mother, normal fetal ultrasonographic findings and the similar cases described before in the literature it was considered that the fetus would be normal. Physical examination of the baby was normal after birth as expected. The existence of two G+ bands in 9qh was considered to be a normal variant in humans.

PubMed ID: 15744830, [No abstract available]

PubMed ID: 16259332, [No abstract available]

PubMed ID: 15641267, We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.

WOS: 000222686500012, PubMed ID: 15287425

WOS: 000222686500007, PubMed ID: 15287420, Screening of Y chromosome microdeletion which contains AZF regions in 71 turkish azoospermic men: In 71 Turkish men Y chromosome microdeletions have been studied before intracytoplasmic sperm injection (ICSI). DNA samples were amplified with 18 STS primers of the azoospermia factor (AZF) region on the Y chromosome by using multiplex polymerase chain reaction (PCR). Microdeletions were detected in 4 azoospermic men (5.6%); one with a deletion in the AZFb region, while the 3 others had a large deletion extending over multiple chromosomal regions (AZFb+c+d and AZFa+b+c+d). In the patients with microdeletion, no spermatogenetic activity could be detected in testis biopsies. This result confirms the idea that Y chromosome microdeletion analysis is important in investigating the possibility of finding sperm in testicular sperm extraction (TESE). Therefore, we point out the importance of genetic testing and counselling regarding Y chromosome microdeletion for couples requesting ICSI.

PubMed ID: 15287425, [No abstract available]

WOS: 000220469800016, PubMed ID: 15083708

WOS: 000184220200003, PubMed ID: 12921294, Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More,than 90% of patients with achondroplasia, have a G to A transversion or G to C transversion at position 1138 of the fibroblast growth factor receptor-3 (FGFR3) gene resulting in the substitution of an arginine for a glycine residue at position 380 (G380R) of the FGFR3 protein. In this study, 12 unrelated Turkish patients with achondroplasia were evaluated for the G to A and G to C transversion at position 1138 of the FGFR3 gene. Eleven of 12 patients carried the G to A mutation heterozygously. None of the patients had the G to C mutation at the same position. In conclusion, the vast majority of Turkish achondroplasia patients have the same mutation that has been most often defined in patients with achondroplasia from other countries. Our results give further support to the fact that, the G38OR mutation of FGFR-3 is the most common mutation causing achondroplasia in different populations.

PubMed ID: 12673647, [No abstract available]

WOS: 000187362300008, PubMed ID: 14738116, Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature: In general, carriers of paracentric inversions are phenotypically normal, although individual reports describe like occurrence of infertility, miscarriages and mental retardation in inversion carriers. We present a family with paracentric inversion of 1 p [karyotype: 46,XX/XY, inv(1) (p13.2p36.2)] in 7 of the 12 investigated family members. The index patient, a four year-old boy, was referred for motor and mental retardation. The possible relationship between the paracentric inversion and the MR/MCA syndrome in the index patient of this family is briefly discussed.

WOS: 000188379100002, PubMed ID: 14768791, Little is known-about the epidemiology of rotavirus infection in Turkey. The aim of the study was to determine the incidence and clinical significance of rotavirus gastroenteritis, in view of the potentially available prevention by rotavirus vaccination. The study also sought to determine possible risk factors for rotavirus gastroenteritis. Therefore, 920 children under,five years of age with acute gastroenteritis admitted to three pediatric hospitals in Izmir were studied. Rotavirus was identified in 39.8% of the children. Most children with rotavirus gastroenteritis (80.7%) were younger than two years of age. Marked seasonality of rotavirus gastroenteritis was observed, with a peak incidence from January to March. A total of 91% of rotavirus strains that were typed were of serotypes G 1-4. There was no significant difference among rotavirus-positive and rotavirus-negative patients with regard to family income. Compared with children who were exclusively breast-fed, those who were not exclusively breast-fed were at a two-fold greater risk of rotavirus diarrhea. Rotavirus gastroenteritis was significantly more severe than non-rotavirus gastroenteritis; 69% of children with rotavirus infection had severe gastroenteritis (score greater than or equal to11). In conclusion, rotavirus is the most common cause of severe gastroenteritis among children under five years of age in Izmir. A new potent rotavirus vaccine, when available, will provide effective protection against severe rotavirus infection. Promotion of breast-feeding would augment the impact of rotavirus vaccines in preventing severe childhood diarrhea.

PubMed ID: 14768791, Little is known about the epidemiology of rotavirus infection in Turkey. The aim of the study was to determine the incidence and clinical significance of rotavirus gastroenteritis, in view of the potentially available prevention by rotavirus vaccination. The study also sought to determine possible risk factors for rotavirus gastroenteritis. Therefore, 920 children under five years of age with acute gastroenteritis admitted to three pediatric hospitals in Izmir were studied. Rotavirus was identified in 39.8% of the children. Most children with rotavirus gastroenteritis (80.7%) were younger than two years of age. Marked seasonality of rotavirus gastroenteritis was observed, with a peak incidence from January to March. A total of 91% of rotavirus strains that were typed were of serotypes G 1-4. There was no significant difference among rotavirus-positive and rotavirus-negative patients with regard to family income. Compared with children who were exclusively breast-fed, those who were not exclusively breast-fed were at a two-fold greater risk of rotavirus diarrhea. Rotavirus gastroenteritis was significantly more severe than non-rotavirus gastroenteritis; 69% of children with rotavirus infection had severe gastroenteritis (score ?11). In conclusion, rotavirus is the most common cause of severe gastroenteritis among children under five years of age in Izmir. A new potent rotavirus vaccine, when available, will provide effective protection against severe rotavirus infection. Promotion of breast-feeding would augment the impact of rotavirus vaccines in preventing severe childhood diarrhea.

WOS: 000180602800019, PubMed ID: 12504768, A baby bom to an epileptic mother had dysmorphological features associated with 47,XXX karyotype, The mother had been treated with valproic acid (1800 mg per day) and lamotrigine (100 mg per day) throughout pregnancy. Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with thin upper lip, cleft palate, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles. At 6 months old she showed motor retardation. The molecular analysis of parents revealed that extra X chromosome was inherited from the mother. In this case whether the dysmorphological features and 47,XXX karyotype were caused by lamotrigine and valproic acid treatment during pregnancy or coincidence is in question. (C) 2002 Elsevier Science B.V. All rights reserved.