Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Giant Adrenal Pseudocyst: Case Report

Scopu

Eccrine Spiradenoma of the Thigh: Sonographic Findings And Review of the Literature

Scopu

Aseptic Abscess: A Report of Two Cases

An aseptic abscess (AA) is an auto-inflammatory disorder characterized by necrotic lymph nodes and internal organ abscesses, most frequently located in the spleen. Described herein are two cases of aseptic abscesses; one in a patient with Behçet's disease and the other in a patient with mesenteric panniculitis

Non-invasive assessment of the tear film after LASIK

OBJECTIVE: The aim of the study was to compare the assessment of the ocular surface using classic methods with the newly developed keratoscopy-based MYAH (Topcon EU, Vi -sia Imaging, Japan) device after femtosecond la-ser-assisted in situ keratomileusis (LASIK). PATIENTS AND METHODS: This cross-sec-tional and observational study analyzed 80 eyes of 40 patients. Tear film and ocular surface eval-uation were performed at baseline, postoperative week 1, and month 1. Measurements obtained using the Schirmer I test and invasive tear-film breakup time (I-TBT) were compared with non-in-vasive evaluation of the tear break-up time (NI-TBT), tear meniscus height (TMH) and blink analysis obtained using the MYAH device. Findings were correlated with the Ocular Surface Disease Index (OSDI) questionnaire in all subjects.RESULTS: The study included 80 eyes of 40 consecutive patients (21 males and 19 females) with a mean age of 26.6 +/- 5.9 years (18-40 years) and a mean spherical equivalent value of -3.64 D (-9.63 to -0.25 D). There was a significant de-crease in Schirmer I test (19.21 +/- 8.4 vs. 16.61 +/- 9.1 vs. 14.69 +/- 9.86, p= 0.02, respectively) and I-TBT values (8.59 +/- 3.4 vs. 7.4 +/- 3.25 vs. 6.17 +/- 3.01, p=0.03 respectively). OSDI values showed a significant increase after LASIK (11.56 +/- 6.3 vs. 17.24 +/- 7.5 vs. 14.71 +/- 9.6, p=0.03, respectively). 5% level NI-TBT was significantly lower at 1 week 6.75 and 1 month 7.45 than baseline 13.2 at follow-up (p=0.037). Ocular protection index (6.6 vs. 2.3 vs. 2.6, p=0.009, respectively) and blink/minutes (18 vs. 17 vs. 15, p=0.002, respectively) values showed a statistically significant decrease. Our data detected a weak correlation between I-TBT and noninvasive first TBT, 5% level TBT parameters at month 1 follow-up. This study also found no correlation be-tween contact lens use, older age, female gender, and pre-operative refractive error with the noninvasive MYAH dry eye parameters.CONCLUSIONS: This study demonstrated the ability of the new keratoscopy-based MYAH de -vice to detect changes in the short term after LASIK surgery

Refractive lenticule extraction (ReLEx) through a small incision (SMILE) for correction of myopia and myopic astigmatism: current perspectives

Alper Ağca,1 Ahmet Demirok,2 Yusuf Yıldırım,1 Ali Demircan,1 Dilek Yaşa,1 Ceren Yeşilkaya,1 İrfan Perente,1 Muhittin Taşkapılı1 1Beyoğlu Eye Research and Training Hospital, 2Department of Ophthalmology, Istanbul Medeniyet University, Istanbul, Turkey Abstract: Small-incision lenticule extraction (SMILE) is an alternative to laser-assisted in situ keratomileusis (LASIK) and photorefractive keratectomy (PRK) for the correction of myopia and myopic astigmatism. SMILE can be performed for the treatment of myopia ≤-12 D and astigmatism ≤5 D. The technology is currently only available in the VisuMax femtosecond laser platform. It offers several advantages over LASIK and PRK; however, hyperopia treatment, topography-guided treatment, and cyclotorsion control are not available in the current platform. The working principles, potential advantages, and disadvantages are discussed in this review. Keywords: SMILE, small-incision lenticule extraction, femtosecond laser, laser in situ keratomileusis, corneal biomechanic