MicroRNA expression profiling in children with different asthma phenotypes.

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.

Molecular analysis and clinical findings of Griscelli syndrome patients.

Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II.

Does mannose-binding lectin have a role in adult Turkish patients with nasal polyposis?

Objective: Mannose-binding lectin is an important component of innate immunity; it initiates the lectin pathway of complement activation critical for innate immunity. Failure of local innate defenses may result in defective responses that lead to the persistent carriage of microorganisms or ongoing inflammation. This study investigated the role of mannose-binding lectin levels and the frequency of the 6 functional mannose-binding lectin polymorphisms in Turkish individuals with nasal polyposis.

Reasons for adult referrals for genetic counseling at a genetics center in Izmir, Turkey: analysis of 8965 cases over an eleven-year period.

A limited numbers of published studies evaluate the referral reasons for genetic counseling services in the literature. These studies are focused on prenatal genetic counseling services, in particular, prenatal diagnosis. In order to provide the most effective and helpful genetic counseling services, genetics professionals need adequate knowledge about the profile of individuals referred for these services.

Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy.

Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls.

Interferon-gamma gene and interferon-gamma receptor-1 gene polymorphisms in children with tuberculosis from Turkey.

Macrophage activation by interferon-gamma (IFN-gamma) is important in host resistance to tuberculosis (TB). In this study, the relationships of the +874 T/A polymorphism in the first intron of the IFN-gamma gene and intronic (CA)n polymorphic microsatellite marker of the interferon-gamma receptor 1 (IFN-gammaR1) gene to TB susceptibility were investigated in children. Forty children with TB and 67 age-matched controls were included.

Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals.

Objective: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007.

Methods: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons.

Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock.

Background: Sepsis is characterized by a systemic inflammatory response. Its development and outcome are associated with host defense, pathogenicity of the microorganism and genetic polymorphisms. Genetic polymorphisms of the immune system genes have been shown to have a close relationship with the clinical outcomes of sepsis.

Association between IL4 (-590), ACE (I)/(D), CCR5 (Delta32), CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo.

Vitiligo is a common skin disorder characterized by patterned depigmentation, 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 Chemocine Receptor 5 (CCR5), Cytotoxic T Lymphocyte-associated Antigen Receptor 4 (CTLA4) and Interleukin 1 Receptor Antagonist (IL1-RN) gene polymorphisms in 48 Turkish vitiligo patients and 50 healthy controls. Polymorphisms for the genes ACE insertion(I)/deletion(D), CCR5 (Delta32), IL1-RN (VNTR in intron 2) were detected by PCR methods.

Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction.

Background/aims: Quantitative fluorescent polymerase chain reaction (QF-PCR) is a successful prenatal diagnostic method which has been regularly used for the diagnosis of common chromosomal abnormalities in recent years. This method provides diagnosis of common aneuploidies in a few hours after sampling with a high throughput, very low error rates and low cost.

Methods: In this study, 576 amniotic fluid samples were analyzed for trisomies 13, 18, and 21 and sex chromosome aneuploidies using different commercial QF-PCR kits (ChromoQuant version 1, Aneufast, ChromoQuant version 2).

Association between mannose binding lectin polymorphisms and predisposition to bacterial meningitis.

The aim of this study was to examine the presence of any association between mannose binding lectin (MBL) gene variants and bacterial meningitis. Codon 54 (B allele) and codon 57 (C allele) polymorphisms in exon 1 of the MBL gene were investigated in 50 healthy controls and 31 patients diagnosed as purulent meningitis. Codon 57 polymorphism was not found in our patient and control groups.

Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disease. The characteristic features of the disease include severe T cell immune defects with recurrent infections, a failure to thrive, and progressive neurological findings. To date, 35 cases of purine nucleosidase phosphorylase deficiency have been reported worldwide.

Evidence of an association between mannose binding lectin codon 54 polymorphism and adenoidectomy and/or tonsillectomy in children.

Mannose binding lectin (MBL) is a calcium-dependent lectin that plays an important role innate immunity by activating the complement pathway. There have been a number of studies describing an association between the MBL genotype and disease susceptibility. MBL deficiency has been described as one of the factors leading to a number of infections in children with recurrent upper respiratory tractus infections (URTI).

Two cases of macrocephaly and immune deficiency.

Macrocephaly describes a head circumference greater than two standard deviations above the mean and is a feature of a number of genetic syndromes. Here we report on two patients with microcephaly, immune deficiency and anemia. In addition, one case had periventricular leukomalacia and the other case had myelinisation delay in periventricular white matter development.

Pyoderma gangrenosum in a six-month-old boy.

Pyoderma gangrenosum (PG) is an uncommon, chronic ulcerative condition of the skin that was first described in 1930. It can occur in any age group, but only 4% of the patients are infants or children. An underlying systemic disease is present in approximately 50% of the patients with PG.

Complications of varicella in healthy children in Izmir, Turkey.

Background: The purpose of the paper was to evaluate the indications of hospital admissions and complications of varicella infection in immunologically healthy children.

Methods: Between 1997 and 2001, patient records of children hospitalized due to varicella infection were reviewed. Incidence and clinical spectrum of complications and their distribution related to age and seasonal variations were analyzed.

Evaluation of telomerase mRNA (hTERT) in childhood acute leukemia.

Human telomerase reverse transcriptase (hTERT) is the catalytic component of telomerase enzyme and has been shown to be associated with telomerase activity (TA). Although many studies in adult leukemia have established the importance of TA, very few have been reported in the children. In this study hTERT levels in childhood leukemia was evaluated and compared with the prognostic factors described before.

Hair zinc level in Down syndrome.

Immunological, endocrinological, and haematological abnormalities are relatively common in people with Down syndrome (Cuadrado & Barrena, 1996; Decoq & Vincker, 1995; Hestnes et al., 1991; Sustrova & Strbak, 1994; Nespoli, Burgio, Ugazio & Maccario, 1993; Kempski, Chessells & Reeves, 1997; Kivivuori, Rajantie, & Siimes, 1996; David et al., 1996; Gjertson, Sturm & Berger, 1999).

Rotavirus gastroenteritis among children under five years of age in Izmir, Turkey.

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.

Evaluation of 80 children with prolonged fever.

Background: Several studies have been published regarding the etiology and evaluation of a child with prolonged fever, however, the reasons for the prolonged fever have changed during the years. The present study aims to determine the causes of prolonged fever, to investigate the relationship of fever using some basic laboratory tests, and to establish guidelines for the approach in those children.

Methods: The charts of 80 out of 17490 hospitalized children who were seen between 1996 and 2001 with prolonged fever of longer than 2 weeks and unknown origin were reviewed in the university hospital of Izmir, Turkey.

Celiac disease in children with Down syndrome: importance of follow-up and serologic screening.

Background: Celiac disease, also known as gluten-sensitive enteropathy, is a chronic inflammation disease of the small intestinal mucosa. Detection of Ig-A antigliadin antibodies (AGA) and antiendomysial antibodies (EMA) in serum is important in the diagnosis and screening for celiac disease. Antiendomysial antibodies have greater sensitivity compared to antigliadin antibodies.