EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency.

Interobserver and Intraobserver Reliability in Sonoelastographic Assessment of Thyroid Nodules.

Background: Thyroid ultrasonography is the first and perhaps most fundamental step for the radiological distinction of benign and malignant nodules. In this study, 2 radiologists reviewed the sonoelastographic and Doppler images of thyroid nodules and evaluated for the intraobserver and interobserver reliability.

Purpose: We aimed to determine confusing nodule identifiers and sonographic features differently defined by observers.

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is mainly associated with CRLF1 and, rarely, CLCF1. PERCHING syndrome, previously known as CS/CISS type-3 associated with biallelic pathogenic variants in KLHL7, is notable for its few overlapping manifestations.

How to Manage Low Estriol Levels in Pregnancies, One Center Experience.

Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ichthyosis, a microdeletion syndrome with mild ichthyosis, which causes steroid sulfatase (STS) deficiency, is the most common genetic cause, second-trimester screening tests calculate the risk for a less common and severe disorder known as the Smith Lemli Opitz syndrome (SLOS). We aimed to investigate the outcomes of pregnancies with low uE3 levels in Down syndrome screening and emphasize the high prevalence of STS deficiency instead of SLOS in such cases.

Reliability of normative tables in assessing elevated blood pressure in children.

Epidemiological studies indicate that elevated blood pressure (BP) is common among children. Early detection of elevated BP in children is important in the prevention of cardiovascular disease (CVD). Difficulties exist in the diagnosis of "elevated" BP in children of 8-12 years of age.

Success and reliability of extrafemoral Exoseal vascular closure device: "Off-label" usage.

Aim: The aim of this study is to present the reliability and efficacy of Exoseal vascular closure device (EVCD) for closure of extrafemoral punctures.

Materials And Methods: All patients who were treated with EVCD following arterial endovascular treatment involving an extrafemoral puncture between April 2013 and January 2014 were examined retrospectively. This study included 11 patients (4 women and 7 men between the ages of 48 and 87 years; average age = 65 years).

Sarcopenia among Genders in Type 2 Diabetes Mellitus Patients Using Different Formulas of Bioimpedance Analysis.

Objective: To assess the frequency of sarcopenia in type 2 diabetes mellitus (DM) patients using different formulas of bioimpedance analysis (BIA).

Study Design: Cross-sectional study.

Place And Duration Of Study: Obesity Clinic, Kartal Dr.

Relation of Muscle Indices with Metabolic Parameters and C-Peptide in Type 2 Diabetes Mellitus.

Objective: To assess the relation between bioimpedance measurements and metabolic parameters and C-peptide in patient with type 2 diabetes mellitus (DM).

Study Design: Cross-sectional study.

Place And Duration Of Study: Kartal Dr Lutfi Kirdar Training and Research Hospital, Pendik Kaynarca Diabetes Center, Exercise and Metabolism Unit, between January and March 2015.

Pediatric Urinary System Neoplasms: An Overview and Update.

Pediatric urinary system neoplasms are a diverse group of tumors that frequently overlap in their clinical and radiologic features. By contrast, the histopathologic classification and treatment of these entities have become increasingly refined, resulting in improved outcomes, with the overall survival of Wilms tumors now exceeding 90%. Significantly, many contemporary protocols rely on radiologic diagnosis in the absence of tissue confirmation.

Refractive, Topographic, and Aberrometric Results at 2-Year Follow-Up for Accelerated Corneal Cross-Link for Progressive Keratoconus.

. To report the visual, refractive, and corneal topography and wavefront aberration results of accelerated corneal cross-linking (CXL) during a 24-month follow-up. .

Corneal Wavefront Aberrations After Primary and Recurrent Pterygium Surgery.

Purpose: To evaluate the effect of primary and recurrent pterygium surgery on corneal wavefront aberrations.

Methods: This prospective and interventional study included the 47 eyes of 47 patients with primary pterygium (primary group) and 41 eyes of 41 patients with recurrent pterygium (recurrent group). All patients underwent pterygium excision with conjunctival autograft transplantation.

Risk of gastric cancer in children with Helicobacter pylori infection.

Background: Helicobacter pylori (H. pylori) is the most common chronic infectious agent in the stomach. Most importantly, it may lead to atrophy, metaplasia and cancer.

Evaluation of corneal stromal demarcation line after two different protocols of accelerated corneal collagen cross-linking procedures using anterior segment optical coherence tomography and confocal microscopy.

Purpose. To evaluate the depth of corneal stromal demarcation line using AS-OCT and confocal microscopy after two different protocols of accelerated corneal collagen cross-linking procedures (CXL). Methods.

Corneal sensation after corneal refractive surgery with small incision lenticule extraction.

Purpose: To compare effects of small-incision lenticule extraction (SMILE) and femtosecond laser-assisted in situ keratomileusis (F-LASIK) on corneal sensation and dry eye parameters.

Methods: In this prospective, randomized, contralateral-eye study, 28 patients with myopia or myopic astigmatism in both eyes were enrolled. One eye of each patient was treated by SMILE, and the fellow eye was treated by F-LASIK.

Effects of body mass index on intraocular pressure and ocular pulse amplitude.

Aim: To investigate the effects of body mass index (BMI) on intraocular pressure (IOP) and ocular pulse amplitude (OPA).

Methods: Totally 140 healthy individuals without any systemic diseases were included in the study. BMI (kg/m(2)) was calculated for every individual.

Comparative analysis of the protective effects of caffeic acid phenethyl ester (CAPE) on pulmonary contusion lung oxidative stress and serum copper and zinc levels in experimental rat model.

The aim of this study was to investigate the effects of caffeic acid phenethyl ester (CAPE) in the lungs by biochemical and histopathological analyses in an experimental isolated lung contusion model. Eighty-one male Sprague-Dawley rats were used. The animals were divided randomly into four groups: group 1 (n = 9) was defined as without contusion and without CAPE injection.