mutation in humans with pubertal failure alters GnRH transcript expression.

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rare missense variants in in 15 patients. encodes two distinct isoforms.

Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nationwide survey (A-HIT1 registry).

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening disease due to high serum low-density lipoprotein (LDL) cholesterol levels. LDL cholesterol-lowering interventions are fundamental for patients with HoFH.

Objective: It was aimed to investigate the association between the mental status of patients with HoFH and healthy lifestyle behaviors.

Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: Results of a nationwide survey (A-HIT1 registry).

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA).

Methods: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey.

What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

Background And Aims: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2).

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).

Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival.

Methods: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available.

The association between methylation levels of targeted genes and albuminuria in patients with early diabetic kidney disease.

Objective: The incidence of diabetes and its complications are greatly increasing world-wide. Diabeticnephropathy (DN) is the main cause of end-stage renal disease and is associated with high morbidity and mortality. It is important to predict patients with high risk for DN in the early stage.

Calcium Homeostasis During Attack and Remission in Patients With Idiopathic Benign Paroxysmal Positional Vertigo.

Objective: To evaluate changes in calcium metabolism in patients with idiopathic benign paroxysmal positional vertigo (BPPV) on initial presentation and at the follow-up visit.

Subjects And Methods: The study comprised a total of 31 patients aged greater than 18 years who presented at the otorhinolaryngology outpatient clinic of our hospital, newly diagnosed as idiopathic BPPV based on the history compatible with BPPV and positive provocative maneuver (either Dix-Hallpike or Roll test). The first blood sample was obtained on the day of initial presentation when the patient was found to have active unilateral BPPV.

Higher Serum Bisphenol A Levels in Diabetic Hemodialysis Patients.

Background: Bisphenol A (BPA) has been implicated as an 'endocrine disruptor'. We aimed at exploring the association between serum BPA levels and patient characteristics, particularly the presence of diabetes mellitus, and laboratory parameters in hemodialysis patients.

Methods: This study included 47 chronic hemodialysis patients.

The Presence of Demodex Folliculorum in Various Obese Groups According to BMI Levels.

Background: This study aimed to detect the presence of the parasite Demodex folliculorum (DF) in various obese groups according to BMI Levels.

Materials And Methods: A total of 182 patients (40.8 ± 14.

Mortal quintet of sickle cell diseases.

Background: Sickle cell diseases (SCDs) are chronic inflammatory processes on capillary level. We tried to understand some possible correlations between stroke and severity of SCDs.

Methods: All patients with SCDs were taken into the study.

Tonsilectomy in sickle cell diseases.

Background: We tried to understand whether or not there are lowered prevalences of terminal consequences of sickle cell diseases (SCDs) with tonsilectomy.

Methods: All cases with SCDs were taken into the study.

Results: The study included 334 patients (164 females).

The relationship between phthalates and obesity: serum and urine concentrations of phthalates.

Background: A limited number of human and animal studies suggest that a relationship exists between phthalates and obesity, although this is not supported by all research. The purpose of this study was to investigate the relationship between Body Mass Index (BMI) and the levels of phthalates in human blood and urine samples.

Methods: Sixty-four overweight or 132 obese individuals (total=196) of different ages (min-max, 17-62; mean ± SD, 42.

Migrated phthalate levels into edible oils.

The determination of phthalates in edible oils (virgin olive oil, olive oil, canola oil, hazelnut oil, sunflower oil, corn oil) sold in Turkish markets was carried out using gas chromatography-mass spectrometry. Mean phthalate concentrations were between 0.102 and 3.

Acute chest syndrome in severity of sickle cell diseases.

Background: Sickle cell diseases (SCDs) are chronic inflammatory processes on capillary level. We tried to understand whether or not there are some positive correlations between acute chest syndrome (ACS) and severity of SCDs.

Methods: All patients with the SCDs were taken into the study.

Does polycystic ovary syndrome itself have additional effect on apelin levels?

Objective. The present study was designed to compare serum levels of apelin between lean PCOS women and healthy women with regular menses. Study Design.

Diabetic foot due to anaphylactic shock: a case report.

Introduction: Diabetic foot is a clinical disorder, which is commonly seen in patients with diabetes mellitus. It is also the major cause of below knee amputation in the world. There are many underlying causes such as neuropathic, ischemic, and infectious causes for diabetic foot.

Investigation of vitamin D levels in patients with vitiligo vulgaris.

The aim of the study was to investigate serum 25-hydroxyvitamin D (25(OH) D3) levels in patients with vitiligo vulgaris in terms of causal relation and extension of the disorder. This study is a clinical cross-sectional study carried out in order to determine 25-hydroxyvitamin D levels among 25 patients with vitiligo vulgaris and in 41 controls. Fitzpatrick skin phototypes, history of autoimmune disease, family history of vitiligo, and duration of the disease were also evaluated.

Comparison of the chronic effects of ribavirin and caffeic acid phenethyl ester (CAPE) on pancreatic damage and hepatotoxicity.

Unlabelled: This study was aimed to comparison of the effects of the chronic use of the Ribavirin and caffeic acid phenethyl ester (CAPE) on the pancreatic damage and hepatotoxicity in rats.

Methods: The rats were given orally 30 mg/kg/day doses of Ribavirin for 30 days, and intraperitoneally 10 μmol/kg doses of CAPE. The 37 rats were divided into 4 groups: (I) Control (n=7), (II) Ribavirin (R) (n=10), (III) CAPE (n=10), and (IV) R+CAPE (n=10).

Evaluation of mean platelet volume in patients with type 2 diabetes mellitus and blood glucose regulation: a marker for atherosclerosis?

Objective: Platelets have an important role in atherosclerosis and arterial thrombosis. Cardiovascular complication prevalence of type 2 diabetes mellitus (type 2 DM) may be associated with glycosylated hemoglobin (HbA1c) and mean platelet volume (MPV). The aim of the study was to investigate if platelets were activated in diabetes and its associated vascular complications by measuring the MPV in the diabetics compared to the non-diabetics, and to determine the correlation of MPV with fasting serum glucose (FSG), HbA1c and duration of diabetes in the diabetic patients, respectively.

Pituitary apoplexy due to thyroxine therapy in a patient with congenital hypothyroidism.

A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem. Her findings were umbilical hernia, xerosis, dry hair, and short stature. After thyroxine treatment, she also had headache, vomiting, and palpitation, lack of appetite, and sleep disturbance.

Effect of radioactive iodine therapy on lacrimal gland functions in patients with hyperthyroidism.

Background: Radioactive iodine (RAI) therapy is preferred in the treatment of hyperthyroidism because of its effectiveness, noninvasiveness, and low costs. I has been detected in extrathyroidal tissues, such as in gastric mucosa, salivary glands, and lacrimal glands. To the best of our knowledge, there is no publication concerning the effects of RAI therapy for hyperthyroidism on tear production.

The effect of blood glucose regulation on the presence of opportunistic Demodex folliculorum mites in patients with type 2 diabetes mellitus.

Objectives: To measure the rate of Demodex folliculorum mite infestation in patients with type 2 diabetes mellitus and to investigate if it was related to blood glucose control.

Methods: Patients with type 2 diabetes were classified according to their glycosylated haemoglobin (HbA(1c)) level into two groups: a well controlled blood glucose group (HbA(1c) ≤ 7%) and a poorly controlled blood glucose group (HbA(1c) > 7%). A standardized skin surface biopsy method was used to determine if the patients had D.