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Objective: To describe modifications to the double-layer peritoneal pull-down laparoscopic vaginoplasty technique (Davydov operation) and evaluate anatomic and functional outcomes of the new technique, known as the Uncu modification.Design: Case series (Canadian Task Force classification III).Setting: Tertiary care university hospital.Patients: Women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who underwent surgery between 2010 and 2016.Interventions: Laparoscopic double-layer peritoneal pull-down vaginoplasty with paramesonephric remnant support to the neovagina.Measurements and Main Results: Long-term anatomic and functional satisfaction results. Twenty-seven women with MRKHS underwent surgery with the Uncu-modified Davydov procedure. At 1 year after surgery, the mean vaginal length in these patients was 7.91 ± 1.4 cm. Among the 23 patients who had regular vaginal intercourse, the mean functional satisfaction score was 8.65 ± 1.2. One patient had a perioperative bladder injury, and another patient had a rectovaginal fistula at 3 months after the operation. One woman who did not comply with the prescribed postoperative mold exercises had complete closure of the introitus.Conclusion: The Uncu modified laparoscopic double-layer peritoneal pull-down technique appears to be an effective and safe surgical management option that is easy to learn and perform by gynecologic surgeons. [ABSTRACT FROM AUTHOR]

This qualitative study examined the development of trust in the supervisory relationship between doctorallevel student supervisors and masters-level students. Using phenomenological research methodology to analyze data obtained from 10 interviews with masters-level practicum students, six themes emerged: (1) Focus, (2) Investment, (3) Safety, (4) Honesty, (5) Expertise, and (6) Evaluation. [ABSTRACT FROM AUTHOR]

Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional clinical features. Within this group, anauxetic dysplasia represents the severe end of the skeletal spectrum. However, extraskeletal features including immunodeficiency, hematological abnormalities, and hair hypoplasia are absent, despite the severe skeletal involvement. This disorder is caused by mutations in the gene encoding ribonuclease mitochondrial RNA-processing complex. We herein report on a patient with anauxetic dysplasia, who presented with severe roto-scoliosis and skeletal findings requiring surgical intervention, and in whom a homozygous RMRP mutation was detected. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate psychiatric disorders, depression and anxiety levels, and quality of life in children and adolescents with cystic fibrosis (CF), and to compare them with those of children with non-cystic fibrosis (non-CF) bronchiectasis and healthy controls. A total of 103 children and adolescents aged 7-16 years (35 CF, 28 non-CF bronchiectasis, 40 healthy) were evaluated using The Schedule for Affective Disorders and Schizophrenia for School Aged Children (K-SADS), The Child Depression Inventory (CDI), The State-Trait Anxiety Inventories for Children (STAI-C) and the Pediatric Quality of Life Inventory (PedsQL)-C. The three groups were not statistically different with respect to age, sex, and familial sociodemographic variables. 80% of the children and adolescents in the CF group were diagnosed with a psychiatric disorder, which was significantly more compared to those of the two other groups. The CF group had significantly greater rates of depressive and oppositional defiant disorder and the non-bronchiectasis group had a significantly greater rate of anxiety disorder than the control group. The depression and anxiety symptom levels were significantly greater and the quality of life levels significantly lower in both the CF and non-CF bronchiectasis groups than the healthy controls. In the CF group, the presence of any associated psychiatric disorder led to significantly lower total and psychosocial quality of life scores. In conclusion, CF is associated with poorer QOL in childhood. In order to improve quality of life in CF, the psychiatric conditions of children and adolescents should also be evaluated and their follow-up and treatment should involve a multidisciplinary team approach. [ABSTRACT FROM AUTHOR]

Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2. The disease is characterized by early neurological regression following a normal initial development. The diagnosis is a clinical one, based on major and minor diagnostic criteria. This study, in a group of patients from a single tertiary center, aimed to evaluate the efficiency of clinical diagnosis and to see if there was a diagnostic delay. A second aim was to investigate genotype-phenotype correlations, based on Pineda scores. In this study, sixteen patients with a median age of 6.5 years (2.5-22 years) were included, following molecular confirmation of clinical diagnosis. The median age at the onset of symptoms and the median age at clinical diagnosis was 1.5 years and 2.5 years, respectively, the difference being statistically significant. Considering the Rett syndrome diagnostic criteria, initially regulated in 2002 and revised in 2010, seven and two patients in our group, respectively, did not meet the main criteria. Pineda scores among mutation groups were statistically not different. To conclude, the present study revealed presence of a diagnostic delay. The challenge may be that the patients do not exhibit full-blown clinical picture initially. No genotype-phenotype correlations were detected in clinical severity, as measured by Pineda scores. Moreover, the diagnostic criteria revised in 2010 are more comprehensive as compared to the 2002 criteria; however, further revision may increase diagnostic sensitivity. [ABSTRACT FROM AUTHOR]

Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis. Apert syndrome is a well-defined genetic syndrome, which is characterized by craniosynostosis and arises as a result of two missense mutations in Fibroblast Growth Factor Receptor, type 2 gene (FGFR2). In this study, differentially expressed genes in dermal fibroblasts from individuals with Apert syndrome and controls were investigated to identify important pathways in the pathogenesis of Apert syndrome. For this purpose, primary skin fibroblast cultures obtained from 3 individuals with Apert syndrome and 3 controls without craniosynostosis were compared by transcriptome microarray, GeneChip Human Genome U133 Plus 2.0. As a result, 181 genes were shown to be differentially expressed between experimental groups. Among these, 10 genes, which significantly differ in Apert syndrome fibroblasts compared to controls, were shown to be involved in a common interaction network and have common Gene ontology (GO) biological processes terms. COL11A1, COMP, CPXM2, ITGA8, MGF and TNC are differentially expressed genes that have GO terms associated with extracellular matrix (ECM) organization, while FRZB, SFRP2 and WNT2 are involved in WNT signaling pathway. Reorganization of ECM and changes in WNT signaling pathway show that Apert syndrome primary fibroblast cultures may have an increased potential for bone differentiation. The results of this study support craniosynostosis in Apert syndrome may be the result of fast and early differentiation of connective tissue along the sutures. [ABSTRACT FROM AUTHOR]

Copyright of Journal of the Cukurova University Institute of Social Sciences is the property of Cukurova University Institute of Social Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Acute bronchiolitis is a common, potentially life-threatening condition with few therapeutic options. In the present randomized study, we compared the clinical efficacies of nebulized epinephrine and salbutamol in the emergency room management of acute bronchiolitis. Primary outcome measures were improvement in mean respiratory rate, mean oxygen saturation value and severity score. Secondary outcome measures were length of hospital stay, hospitalization and relapse rates. A total of 75 patients were analyzed (36 epinephrine, 39 salbutamol). Both groups experienced a similar pattern of clinical improvement. Hospitalization rates were 8.3% for epinephrine and 5.1% for salbutamol (p>0.05), whereas relapse rates were 80% for epinephrine and 20% for salbutamol groups (p<0.001). Respiratory syncytial virus was the most common virus identified (41%). We did not find a difference between salbutamol and epinephrine in terms of clinical improvement, but salbutamol can be a drug of choice due to its lower relapse and hospitalization rates compared to epinephrine. [ABSTRACT FROM AUTHOR]

In this study; new tracks were created, alternative to the existing walking routes within Kıyıköy Region, with the foresight of "Tourism routes are both an important element of economic growth and a natural and cultural heritage value". This process was carried out by analysing natural and cultural values ecologically, with a participatory approach. The research area, located in the Thrace region of Turkey; facilitates the emergence of different tourist routes and corridors with its historical and cultural identity, natural values, local capabilities, history and product focused route traces (Sultan Road, Dionysus Wine Road), and natural identity. The working area is recommended as ecotourism centre in the upper scale planning decisions with its potential. In this study, it was aimed to create ecotourism development corridors, which are passing through the rural areas, forest roads, historical route traces, cultural axes and agricultural axes, by connecting the natural and cultural resources integrally within thematic routes, instead of point-scale ecotourism planning. For this reason the area was divided into microwatersheds, determined by the natural watershed boundaries. Each micro-watershed was evaluated according to six basic factors, including; natural landscape attractiveness, accessibility, tourist infrastructure facilities, tourist superstructure facilities, socio-cultural landscape attractiveness and the impact of visitors on ecotourism resources and their perspectives. The ecotourism value of each micro watershed was determined in line with ecological examination. 11 different designated thematic routes, which are distinguished with their natural, cultural and historical source values, were created for nature walking in the aforementioned area. As a result, it is ensured to create a strong tourism route and destination regarding ecotourism, and to develop proposals for a sustainable rural improvement of the weak areas of the region. The created lines where ecotourism routes are identified will provide a fundamental base for decision-makers and practitioners in the fields of tourism and rural development. Besides, the method developed can be used on different areas and in different countries. [ABSTRACT FROM AUTHOR]

Copyright of Cukurova Medical Journal / Çukurova Üniversitesi Tip Fakültesi Dergisi is the property of Cukurova University, Faculty of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Meconium periorchitis (MPO) is a rare disorder caused by meconium peritonitis with the leakage of meconium into the scrotal sac through the patent processus vaginalis. MPO may be rarely detected during inguinal hernia repair. The association of MPO with cystic fibrosis is rarely seen. We present a male infant with the complaint of left groin swelling, compatible with reducible inguinal hernia. An herniotomy was carried out and the greenish nodules with calcifications were detected. Histopathological examination was compatible with MPO. Two months later the patient was diagnosed with atypical cystic fibrosis. Clinicians should be aware of MPO presentations and its appearance on the hernia sac to prevent unnecessary orchiectomy. [ABSTRACT FROM AUTHOR]

Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C>T [p.Gln4322*]) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene. [ABSTRACT FROM AUTHOR]

Inflammation is a central contributor to the pathogenesis of cystic fibrosis (CF) pulmonary disease; so limiting the excessive production of inflammatory mediators represents a major therapeutic strategy for slowing the decline in lung function and improving survival. The macrolide antibiotic azithromycin (AZM) has anti-inflammatory properties and immunomodulatory effects that may be beneficial in CF. The aim of this study was to document the long term use of AZM effect on pulmonary function, nutritional status and number of pulmonary exacerbations in patients with CF. Twenty four patients with CF aged 4-23 years followed at Hacettepe University Department of Pediatric Pulmonology between May 2007- December 2014 enrolled in the study from 630 CF patients. They received 10 mg/kg/day of AZM three times a week. Pulmonary function parameters, sputum cultures, body mass index (BMI) Z scores and number of pulmonary exacerbations were analyzed at different time intervals (at the visits at months 6, 9 and 12). Median age of the patients was 14.7 (range 4-23 years) years and median treatment duration was 14 months (range 6-60 months). Initially, median FEV1% was found 68% (range 30%-100%), BMI was found 17.05 (range 13.3- 26.5) and oxygen saturation was found 95% (range 84%-99%). At the end of the 6th, 9th and 12th months of the AZM therapy; no significant differences in FEV1% and oxygen saturation parameters were found compared to the initial time, however BMI increased significantly (p=0.03), also the number of pulmonary exacerbations (p<0.001) and severe exacerbations (p<0.001) needing intravenous antibiotic treatment were significantly reduced at the 6th and 12th month. At the end of the 12th month of AZM; Methicillin sensitive S. aureus (MSSA) colonization was significantly increased (p=0.005) and increased macrolide resistance was detected (p=0.008). Although, this study could not be designed as a placebo controlled study, the results showed that at least 6 months of AZM treatment led to a significiant reduction in the number of pulmonary exacerbations requiring antibiotics and improvement on nutritional status. Despite increased P. aeruginosa antibiotic resistance and MSSA colonization rates, the lower incidence of acute exacerbations in patients receiving AZM is an important and clinically relevant measure of beneficial effect. Therefore, long term use of AZM may be considered to slow pulmonary deterioration in CF patients with P. aeruginosa colonization. [ABSTRACT FROM AUTHOR]

Sweat test with Gibson Cooke (GC) method is the diagnostic gold standard for cystic fibrosis (CF). Recently, alternative methods have been introduced to simplify both the collection and analysis of sweat samples. Our aim was to compare sweat chloride values obtained by GC method with other sweat test methods in patients diagnosed with CF and whose CF diagnosis had been ruled out. We wanted to determine if the other sweat test methods could reliably identify patients with CF and differentiate them from healthy subjects. Chloride concentration was measured with GC method, chloride meter and sweat test analysis system; also conductivity was determined with sweat test analysis system. Chloride concentration was measured with GC method, chloride meter and sweat test analysis system; also conductivity was determined with sweat test analysis system. Sweat chloride concentration and conductivity by other sweat test methods highly correlate with the GC method. We think that the other sweat test equipments can be used as reliably as the classic GC method to diagnose or exclude CF. [ABSTRACT FROM AUTHOR]

Introduction: This article is part of the Focus Theme of Methods of Information in Medicine on "Methodologies, Models and Algorithms for Patients Rehabilitation". Objectives: To identify support of a virtual reality system in the kinematic assessment and physiotherapy approach to gait disorders in individuals with stroke. Methods: We adapt Virtual Reality Rehabilitation System (VRRS), software widely used in the functional recovery of the upper limb, for its use on the lower limb of hemiplegic patients. Clinical scales have been used to relate them with the kinematic assessment provided by the system. A description of the use of reinforced feedback provided by the system on the recovery of deficits in several real cases in the field of physiotherapy is performed. Specific examples of functional tasks have been detailed, to be considered in creating intelligent health technologies to improve post-stroke gait. Results: Both participants improved scores on the clinical scales, the kinematic parameters in leg stance on plegic lower extremity and walking speed > Minimally Clinically Important Difference (MCID). Conclusion: The use of the VRRS software attached to a motion tracking capture system showed their practical utility and safety in enriching physiotherapeutic assessment and treatment in post-stroke gait disorders. [ABSTRACT FROM AUTHOR]