SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.

Objective: Ectopic posterior pituitary gland (EPP) is usually characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain. The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.

Associations between epidermal growth factor receptor and topoisomerase II-alpha gene copy number variations, human papillomavirus positivity, and cytologic analysis in cervical cell lesions.

Background: Cervical cancer is the second most common gynecologic cancer worldwide. Human papillomavirus (HPV) infection is a leading etiological factor in cervical carcinoma.The aim of this study was to compare HPV positivity, EGFR and TOP2A gene copy number variations and cervical cytologic findings.

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.

Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum.

Is perioperative examination of frozen sections necessary in nephron-sparing surgery?

Aim: To evaluate the role of perioperative freezing in the management of surgical procedures in patients with malignant renal masses.

Materials And Methods: The study group consisted of 17 patients diagnosed with renal masses who underwent nephron-sparing surgery. The group included 5 females and 12 males aged from 44 to 68 years (mean = 54.

Association between gene polymorphisms in TIM1, TSLP, IL18R1 and childhood asthma in Turkish population.

Unlabelled: Many immunologic and inflammatory mechanisms play a role in asthma etiology. The aim of this study was to investigate the susceptibility of asthma patients in the Turkish population with demonstrating genes for polymorphisms in TIM1, TSLP and IL18R1. All of the genomic DNA samples were isolated from blood samples according to a standard salting-out protocol.

The significance of magnetic resonance imaging and computed tomography findings in sphenoid sinus agenesis.

Agenesis of the sphenoid sinuses is a very rarely encountered anatomic variation. Findings on magnetic resonance imaging can mislead the radiologist and clinician. Therefore, the gold standard for diagnosis is computed tomography (CT) of the paranasal sinuses.

A bladder wall angiomyolipoma as a manifestation of tuberous sclerosis: first case report.

A 21-year-old female patient admitted to the emergency department complaining of left side pain. Hypovolemic shock, which was probably caused by retroperitoneal bleeding from left sided renal angiomyolipoma, was developed. Abdominal computed tomography showed multiple fat containing lesions in different, regions including right bladder wall, lower pole of left kidney, and right kidney.

SYBR green dye-based probe-free SNP genotyping: introduction of T-Plex real-time PCR assay.

Single-nucleotide polymorphism (SNP) genotyping is widely used in genetic association studies to characterize genetic factors underlying inherited traits. Despite many recent advances in high-throughput SNP genotyping, inexpensive and flexible methods with reasonable throughput levels are still needed. Real-time PCR methods for discovering and genotyping SNPs are becoming increasingly important in various fields of biology.

Is microsurgery necessary in grade 3 varicocele?

Purpose: To compare the results of microsurgical and naked eye varicocelectomy in patients with grade 3 varicocele.

Materials And Methods: This study was conducted on 84 patients with grade 3 varicocele, between 2007 and 2009. Patients were randomized into two groups, equal in number.

Development and validation of a cost-effective in-house method, tetra-primer ARMS PCR assay, in genotyping of seven clinically important point mutations.

The single nucleotide polymorphism (SNP) genotyping is currently considered as a particularly valuable tool for the diagnosis of different pathologies. For this reason, over the past several years a great deal of effort has been devoted to developing accurate, rapid, and cost-effective technologies for SNP analysis. Although a large number of distinct approaches has been reported each laboratory use one of the published methods based on their technical and economical capacity.

Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.

Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene. Approximately 94% of SMA patients carry homologous deletions of SMN1 exon(s) 7 (and 8). Because of the high incidence and severity of the disease, precise detection and quantification of SMN1 and SMN2 gene copy numbers is essential for diagnosis and genetic counseling.

Cine phase-contrast MRI evaluation of normal aqueductal cerebrospinal fluid flow according to sex and age.

Purpose: The aim of this study was cerebrospinal flow quantification in the cerebral aqueduct using cine phase-contrast magnetic resonance imaging (MRI) technique in both sexes and five different age groups to provide normative data.

Materials And Methods: Sixty subjects with no cerebral pathology were included in this study. Subjects were divided into five age groups: < or =14 years, 15-24 years, 25-34 years, 35-44 years, and > or =45 years.

Evaluation of dynamic magnetic resonance imaging in assessing velopharyngeal insufficiency during phonation.

Background: Velopharyngeal insufficiency (VPI) expresses the structural and neuromuscular disorder of soft palate and pharyngeal walls inhibiting the normal functions of velopharyngeal (VP) sphincter mechanism. In this study, efficacy of dynamic magnetic resonance imaging in the diagnosis of VPI is investigated.

Materials And Methods: A total of 32 cases, 16 controls and 16 cleft palates, were included in this study.

A tetra-primer polymerase chain reaction approach for the detection of JAK2 V617F mutation.

Recently, an acquired somatic point mutation (p.V617F) in a highly conserved residue of the pseudokinase domain of the JAK2 tyrosine kinase was shown to be associated with myeloproliferative disorders. Because of the clinical importance of this mutation in diagnosing myeloproliferative disorders and its relevance for disease progression, we have developed a tetra-primer polymerase chain reaction (PCR) assay to detect JAK2 p.

Detection and quantification of the parenchymal abnormalities in emphysema using pulmo-CT.

We aimed to determine the degree and extent of parenchymal abnormalities on pulmo-CT in patients with emphysema. The study group consisted of 29 patients (18 male, 11 female; mean age 57.9+/-13).

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.

Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene.

Evaluation and treatment of antrochoanal polyps.

Objectives: Antrochoanal polyp (ACP) is a benign maxillary sinus polyp that originates from the mucosa of the maxillary sinus, passes through a sinus ostium, and extends into the choana. The common presentation of ACP is unilateral nasal obstruction. The radiographic findings and differential diagnosis of ACPs are discussed by comparing them with data in the literature.

Primer-engineered multiplex PCR-RFLP for detection of MTHFR C677T, prothrombin G20210A and factor V Leiden mutations.

Single-nucleotide polymorphisms in the genes that code for coagulation factors V (factor V Leiden) and II (prothrombin, G20210A), as well as the methylenetetrahydrofolate reductase (MTHFR, C677T) gene, have been implicated in the majority of cases of hereditary thrombophilia. We have developed a multiplex PCR-RFLP assay based on MnlI endonuclease digestion for the simultaneous detection of mutations in the FV, FII, and MTHFR genes. Digested amplification products were analyzed by gel electrophoresis in a single gel lane and visualized by ethidium bromide.

Radiological and clinical course of pneumonia in patients with avian influenza H5N1.

Introduction: We evaluated chest X-ray and clinical findings of patients with lower respiratory tract infection due to influenza H5N1 and presented the radiological findings and clinical course of the infection.

Materials And Methods: Between December 2005 and February 2006, eight hospitalized patients (median age 10, 5-15 years) with avian-flu were evaluated in this study. All patients were evaluated with chest X-ray and four of them with CT scan.

Primary hydatid cyst of the brain during pregnancy.

A 26-year-old woman in the 28th week of pregnancy presented with a primary cerebral hydatid cyst manifesting as deteriorating consciousness and weakness in the left arm and leg. Cranial computed tomography revealed an intracranial hydatid cyst. The cyst was surgically removed and albendazole was administered.

Reconstruction of wide scrotal defect using superthin groin flap.

Introduction: Grafts and flaps have been widely used to reconstruct scrotal defects due to Fournier's gangrene. Controversy still exists concerning the use of grafts and flaps because of the low protection provided by the grafts and the high volume of the flaps. We describe the use of an expanded groin flap for scrotum reconstruction.

Predictive value of magnetic resonance imaging signal and contrast-enhancement characteristics on post-embolization volume reduction of uterine fibroids.

Purpose: To assess the magnetic resonance imaging (MRI) signal and contrast-enhancement features of uterine fibroids before and after embolization, and to determine whether or not there are pre-embolization MRI characteristics that predict the volume reduction of fibroids.

Material And Methods: Uterine fibroid embolization (UFE) was carried out in 28 fibroids of 20 patients, all of whom were symptomatic. The patients were prospectively evaluated with T1-weighted, T2-weighted, and gadolinium-enhanced T1 MRI sequences before and 6 months after embolization.

Multiple brain abscesses in a child with autoimmune hemolytic anemia.

A 14-year-old female with autoimmune hemolytic anemia (AIHA) developed an acute hemolytic crisis with acute renal failure under conventional treatment with corticosteroids. Because of the life-threatening situation, we decided to start pulse dose methylprednisolone and also hemodialysis with a femoral catheter placement was performed. Fifteen days after initiating of dialysis subfebrile fever was developed, followed within 2 days with a left hemiparesis.

Right renal stone on the trajectory of upper left ureter.

We report a 52-year-old woman with a right renal pelvic stone, mimicking a left upper ureteral stone in a kidney-ureter-bladder film. Computed tomography detected the exact anatomical location of the stone, which was not possible by intravenous urography and ultrasonography. In this study, we discuss diagnostic modalities of the urinary calculi in the light of the literature.