Diagnosis and treatment of pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease caused by mutations in sodium-phosphate co-transporter (SLC34A2), which encodes a type 2b sodium phosphate co-transporter. Disease is characterized by intra-alveolar microlith formation of phosphate. Turkey has a high prevalence of PAM.

Seasonal vitamin D status and endothelial function in healthcare workers.

Background/aim: Healthcare workers have long working hours indoors and are at risk of vitamin D deficiency. The aim of this study was to determine seasonal vitamin D status and its relationship with early atherosclerotic markers, endothelial function, and carotid intima-media thickness (CIMT) in healthcare workers of Marmara University Hospital, İstanbul.

Materials And Methods: One hundred and ninety healthy volunteer healthcare workers and 66 nonmedical volunteers of Marmara University Hospital were included in the study and 25-hydroxyvitamin D (25(OH)D), calcium, intact parathyroid hormone (PTH), endothelial function, and CIMT were measured twice during winter and summer seasons.

Comparison of the histopathological results of the endometrial thickness detected by transvaginal ultrasound of symptomatic and asymptomatic postmenopausal women.

Objective: The purpose of the study was to assess the reliability of transvaginal ultrasound (TVUSG) in endometrial pathologies by comparing the ultrasonographic and histopathologic findings in symptomatic and asymptomatic postmenopausal women.

Materials And Methods: In this retrospective study the data of 129 postmenopausal women that underwent dilatation and curettage was reviewed by dividing them two groups as symptomatic and asymptomatic. Symptomatic group was divided into subgroups according to the value of endometrial thickness obtained by TVUSG.

Childhood Epilepsy with Occipital Paroxysm: Classification, Atypical Evolution and Long-Term Prognosis in 35 Patients.

We studied childhood epilepsy with occipital paroxysms (CEOP) with regard to typical and/or atypical ictal symptoms, EEG findings, as well as atypical evolution and outcome. This report focuses on the main clinical and EEG features of CEOP underlying its atypical symptoms and its management. Thirty-five patients with CEOP were subdivided into Panayiotopoulos syndrome (n=15), Gastaut syndrome (n=11), and mixed type (n=9).

Vitamin D level is associated with mortality predictors in ventilator-associated pneumonia caused by Acinetobacter baumannii.

Introduction: Vitamin D plays a role in host defense and is known to be associated with mortality in patients in the intensive care unit (ICU). We aimed to evaluate the relationships between vitamin D levels and predictors of mortality in patients with ventilator-associated pneumonia (VAP) caused by extensively drug-resistant Acinetobacter baumanii (XDR A. baumanii).

GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.

Objective: Inactivating heterozygous mutations in the GCK gene are a common cause of MODY and result in mild fasting hyperglycaemia, which does not require treatment. We aimed to identify the frequency, clinical and molecular features of GCK mutations in a Turkish paediatric cohort.

Design And Patients: Fifty-four unrelated probands were selected based on the following criteria: age of diagnosis ≤17 years, family history of diabetes in at least two generations, anti-GAD/ICA negative, BMI<95.

Testicular versus ejaculated spermatozoa in ICSI cycles of normozoospermic men with high sperm DNA fragmentation and previous ART failures.

As a part of male assessment, conventional sperm parameters including morphologic features have been dedicated as major factors influencing fertilisation and pregnancy rates in assisted reproductive technology (ART). Genomic integrity of spermatozoa has also been found to influence fertility prognosis, and hence, sperm DNA fragmentation index (DFI) has been adopted by many centres to document this entity. Despite several suggested approaches, there is lack of universal consensus on optimising fertility outcomes in males with high sperm DFI.

General health status and intelligence scores of children of mothers with acromegaly do not differ from those of healthy mothers.

Purpose: To determine the physical status and intelligence scores of children of acromegalic mothers and to compare them with those of children from mothers without acromegaly.

Methods: Six women with acromegaly who became pregnant under follow-up between 2010 and 2014 and their 16 children (group A) were assessed and compared with 16 children of healthy women (group B) and 15 children of women with prolactinoma (group C). The physical examinations of children were performed by the department of pediatric endocrinology and intelligence quotient (IQ) testing was undertaken by adult and pediatric psychiatry departments, using appropriate scales for their ages.

Traumatic Rupture of Choledochal Cyst in Children: Use of Computed Tomography in the Emergency Department.

The case of an 11-year-old girl who developed acute abdomen after an accidental fall over an iron bar is reported to discuss the diagnostic features and treatment options for traumatic rupture of a choledochal cyst (CC) in children. The patient was admitted to the emergency department with complaints of vomiting and abdominal pain. Physical examination revealed tenderness at the right upper quadrant of the abdomen.

Multidisciplinary Approach for Acromegaly: A Single Tertiary Center's Experience.

Background: Acromegaly is a multisystemic disease that requires a multidisciplinary approach. The aim of this study was to determine early and late remissions of patients who underwent surgery at our center and to evaluate relations between pathologic and radiologic properties of adenoma and medical and radiosurgical treatments with remissions.

Methods: The medical records of 103 patients with acromegaly who underwent endoscopic endonasal transsphenoidal surgery in Cerrahpasa Medical Faculty, Istanbul University, between 2007 and 2014 were reviewed.

Susceptibility-Weighted Magnetic Resonance Imaging Findings of Two Pediatric Migraine Patients with Aura.

Objective: Migraine with aura is considered common during the pediatric age and in some cases it could be hard to distinguish migraine from mimicking conditions. We would like to emphasize the role of susceptibility-weighted imaging (SWI) in pediatric migraine patients with aura.

Methods: We retrospectively reviewed the clinical and SWI findings of two pediatric migraine patients with aura.

Conventional and advanced MR imaging in infantile Refsum disease.

We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder.

Intravenous paracetamol for relief of pain during transrectal-ultrasound-guided biopsy of the prostate: A prospective, randomized, double-blind, placebo-controlled study.

Transrectal-ultrasound-guided prostate biopsy (TRUS-PBx) is the standard procedure for diagnosing prostate cancer. The procedure does cause some pain and discomfort; therefore, an adequate analgesia is necessary to ensure patient comfort, which can also facilitate good-quality results. This prospective, randomized, double-blinded, placebo-controlled study aimed to determine if intravenous (IV) paracetamol can reduce the severity of pain associated with TRUS-PBx.

Locally produced estrogen through aromatization might enhance tissue expression of pituitary tumor transforming gene and fibroblast growth factor 2 in growth hormone-secreting adenomas.

Aromatase, a key enzyme in local estrogen synthesis, is expressed in different pituitary tumors including growth hormone (GH)-secreting adenomas. We aimed to evaluate aromatase, estrogen receptor α (ERα), estrogen receptor β (ERβ), pituitary tumor transforming gene (PTTG), and fibroblast growth factor 2 (FGF2) expressions in GH-secreting adenomas, and investigate their correlation with clinical, pathologic, and radiologic parameters. This cross-sectional study was conducted in a tertiary center in Turkey.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Background: Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.

Peri-implant crevicular fluid levels of cathepsin-K, RANKL, and OPG around standard, short, and mini dental implants after prosthodontic loading.

Purpose: Despite the high success rates of endosseous dental implants, their placement is restricted according to the height and volume of bone available. The use of short or mini dental implants could be one way to overcome this limitation. Thus, this study aimed to compare standard, short, and mini dental implants with regard to associated clinical parameters and peri-implant crevicular fluid (PICF) levels of cathepsin -K (CTSK), RANK ligand (RANKL), and osteoprotegerin (OPG), after prosthodontic loading.

DynaFace: Discrimination between Obligatory and Non-obligatory Protein-Protein Interactions Based on the Complex's Dynamics.

Protein-protein interfaces have been evolutionarily-designed to enable transduction between the interacting proteins. Thus, we hypothesize that analysis of the dynamics of the complex can reveal details about the nature of the interaction, and in particular whether it is obligatory, i.e.

Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours.

Background: Hypothalamic obesity (HyOb) is a common complication of childhood hypothalamic tumours. Patients with HyOb probably have a higher mortality rate than those with other types of obesity due in many cases to obstructive sleep apnoea/hypoventilation.

Objectives: To identify predictive factors for mortality caused by HyOb in children.

NhaA antiporter functions using 10 helices, and an additional 2 contribute to assembly/stability.

The Escherichia coli Na(+)/H(+) antiporter (Ec-NhaA) is the best-characterized of all pH-regulated Na(+)/H(+) exchangers that control cellular Na(+) and H(+) homeostasis. Ec-NhaA has 12 helices, 2 of which (VI and VII) are absent from other antiporters that share the Ec-NhaA structural fold. This α-hairpin is located in the dimer interface of the Ec-NhaA homodimer together with a β-sheet.

The Feasibility of Magnetic Resonance Imaging for Quantification of Liver, Pancreas, Spleen, Vertebral Bone Marrow, and Renal Cortex R2* and Proton Density Fat Fraction in Transfusion-Related Iron Overload.

Objective: We aimed to evaluate the feasibility of quantification of liver, pancreas, spleen, vertebral bone marrow, and renal cortex R2* and magnetic resonance imaging-proton density fat fraction (MRI-PDFF) and to evaluate the correlations among them in patients with transfusion-related iron overload.

Materials And Methods: A total of 9 patients (5 boys, 4 girls) who were referred to our clinic with suspicion of hepatic iron overload were included in this study. All patients underwent T1-independent volumetric multi-echo gradient-echo imaging with T2* correction and spectral fat modeling.

Allosteric Dynamic Control of Binding.

Proteins have a highly dynamic nature and there is a complex interrelation between their structural dynamics and binding behavior. By assuming various conformational ensembles, they perform both local and global fluctuations to interact with other proteins in a dynamic infrastructure adapted to functional motion. Here, we show that there is a significant association between allosteric mutations, which lead to high-binding-affinity changes, and the hinge positions of global modes, as revealed by a large-scale statistical analysis of data in the Structural Kinetic and Energetic Database of Mutant Protein Interactions (SKEMPI).

Changes to the dynamic nature of hemagglutinin and the emergence of the 2009 pandemic H1N1 influenza virus.

The virologic factors that limit the transmission of swine influenza viruses between humans are unresolved. While it has been shown that acquisition of the neuraminidase (NA) and matrix (M) gene segments from a Eurasian-lineage swine virus was required for airborne transmission of the 2009 pandemic H1N1 virus (H1N1pdm09), we show here that an arginine to lysine change in the hemagglutinin (HA) was also necessary. This change at position 149 was distal to the receptor binding site but affected virus-receptor affinity and HA dynamics, allowing the virus to replicate more efficiently in nasal turbinate epithelium and subsequently transmit between ferrets.

Adaptability of protein structures to enable functional interactions and evolutionary implications.

Several studies in recent years have drawn attention to the ability of proteins to adapt to intermolecular interactions by conformational changes along structure-encoded collective modes of motions. These so-called soft modes, primarily driven by entropic effects, facilitate, if not enable, functional interactions. They represent excursions on the conformational space along principal low-ascent directions/paths away from the original free energy minimum, and they are accessible to the protein even before protein-protein/ligand interactions.