Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome.

To describe the structural changes in the pituitary gland and accompanying pituitary hormonal problems in patients with Bardet-Biedl syndrome (BBS), 11 patients with BBS (median age: 12.8 years, range: 2.5-17.

A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.

Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced tissue responsiveness to thyroid hormones. The main defects are due to mutations in thyroid hormone receptor beta (TRbeta). A male, term neonate was admitted because of indirect hyperbilirubinemia and polycythemia.

Multiplexing RMCE: versatile extensions of the Flp-recombinase-mediated cassette-exchange technology.

There are strong indications, but as yet no proof, that extended 48-bp Flp recombinase targets (FRTs) represent unique targets in all eukaryotic genomes investigated, and that recombinase-mediated cassette exchange is not hampered by the occurrence of genomic pseudo sites. This encouraged the present study in which we explore the feasibility of exchanging, in a given cell, two distinct genomically anchored cassettes, each flanked by a unique set of two heterospecific FRT sites. Mutant FRTs have to meet two major prerequisites for successful recombinase-mediated cassette exchange: (i) a self-recognition capacity comparable to a pair of FRT wild-type sites (FRTxFRT), and (ii) a negligible cross-interaction if part of a set of heterospecific sites (F'xF).

Content analysis of food advertising in Turkish television.

Aim: Television (TV) viewing has been implicated in children's weight gain. We aimed to conduct a comprehensive content analysis of TV food advertising in Turkey.

Methods: TV advertisements (ads) in the four most popular national free to air Turkish TV channels, were assessed on two weekdays and two weekend days at four time periods of the day; 0800-1200,1200-1600,1600-2000 and 2000-2400 h for each TV channel (64 h assessed for each TV channel), making a total of 256 h.

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Hypocalcemia and hyperphosphatemia with low/normal parathyroid hormone (PTH) levels can be observed in hypoparathyroidism (HP), a disorder that may follow an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. Similar biochemical changes are also observed in pseudohypoparathyroidism (PHP) type Ia and Ib, but affected patients usually show elevated PTH levels indicative of hormonal resistance. Features of Albright's hereditary osteodystrophy (AHO) are typically not observed in patients affected by familial forms of PHP-Ib, which are most frequently caused by maternally inherited, heterozygous microdeletions within STX16 and are associated with isolated loss of methylation at GNAS exon A/B.

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Homozygous inactivating mutations in DMP1 (dentin matrix protein 1), the gene encoding a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes, cause autosomal recessive hypophosphatemia (ARHP). Herein we describe a family with ARHP owing to a novel homozygous DMP1 mutation and provide a detailed description of the associated skeletal dysplasia and carrier phenotype. The two adult patients with ARHP, a 78-year-old man and his 66-year-old sister, have suffered from bone pain and lower extremity varus deformities since early childhood.

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.

Context: GNAS encodes the alpha-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and the paternally expressed XLalphas, antisense, and A/B transcripts. Most patients with pseudohypoparathyroidism type Ib (PHP-Ib) exhibit imprinting defects affecting the maternal GNAS allele, which are thought to reduce/abolish Gsalpha expression in renal proximal tubules and thereby cause resistance to PTH.

Objective: Our objective was to define the genetic defect in a previously unreported family with autosomal dominant PHP-Ib.

The construct validity and reliability of the Turkish version of Spreitzer's psychological empowerment scale.

Background: Today, many organizations have adopted some kind of empowerment initiative for at least part of their workforce. Over the last two decades, two complementary perspectives on empowerment at work have emerged: structural and psychological empowerment. Psychological empowerment is a motivational construct manifested in four cognitions: meaning, competence, self-determination and impact.

T4 plus T3 treatment in children with hypothyroidism and inappropriately elevated thyroid-stimulating hormone despite euthyroidism on T4 treatment.

Aims: To evaluate the effect of addition of T3 to L-T4 treatment in children with congenital hypothyroidism (CH) who have inappropriately elevated thyroid-stimulating hormone (TSH) levels despite high normal serum T4 levels on L-T4 treatment.

Methods: Ten children (age 7.1 +/- 2 years) with CH whose TSH levels were persistently high despite euthyroidism and can only be normalized with hyperthyroidism were included.

Alopecia: association with resistance to thyroid hormones.

Unlabelled: Resistance to thyroid hormone (RTH) syndrome is caused by thyroid hormone beta receptor (TRbeta) mutations. Goiter, learning disabilities, psychological abnormalities, sinus tachycardia, hearing deficits, short stature, and growth delay are among the most common symptoms in patients with RTH. Alopecia areata (AA) is an autoimmune disease of the hair follicle, frequently associated with other autoimmune disorders.

Comparison of the effect of mexiletine and methylprednisolone on neural function and histopathological damage after transient spinal cord ischemia in rabbits.

Aim: The purpose of this study was to investigate the effect of mexiletine on the neural function and histopathological changes after ischemic spinal cord injury in rabbits. We also compared the effect of mexiletine to that of methylprednisolone.

Material And Methods: Twenty six male New Zealand white rabbits were randomly divided into six groups.

9 years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC).

Patients with pituitary resistance to thyroid hormones (PRTH) exhibit features of hyperthyroidism due to normal sensitivity to thyroid hormones in some of the peripheral tissues. There is a lack of information in the literature on the long-term follow-up and treatment of patients with PRTH. Here, we present long-term (9 years) clinical and biochemical follow-up of a patient with PRTH under the treatment of D-T4 initially (for 1.

Metacognitive awareness and self-regulated learning skills of medical students in different medical curricula.

Aim: The aim of this study was to investigate the acquisition of metacognitive awareness and self-regulated learning skills in medical schools using different curricular models.

Methods: The study was carried out in four medical schools implementing different curricular models. Eight hundred and sixty two medical students took part in the study and two scales (self-regulated learning perception scale--SRLPS and metacognitive awareness inventory--MAI) were used.

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

An autosomal recessive form of hypophosphatemia (ARHP) was recently shown to be caused by homozygous mutations in DMP1, the gene encoding dentin matrix protein-1 (DMP-1), a non-collagenous bone matrix protein with an important role in the development and mineralization of bone and teeth. Here, we describe a previously not reported consanguineous ARHP kindred in which the three affected individuals carry a novel homozygous DMP-1 mutation. The index case presented at the age of 3 years with bowing of his legs and showed hypophosphatemia due to insufficient renal phosphate retention.

Three- and four-dimensional fetal echocardiography.

The rapid continuing development of 3-dimensional ultrasound imaging technologies has extended capabilities of fetal cardiac scanning beyond 2-dimensional imaging technologies and now provides a wide array of analytic possibilities. The acquisition of the 3D volume information is based on initial application of 2-dimensional imaging techniques including grey scale, Doppler, Power Doppler and B-flow modalities. Once the cardiac volume is obtained a combination of postprocessing tools such as surface mode, minimal mode, transverse rendering, inversion and glass body modes allow preferential display of various features of the fetal heart.

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Context: The neurokinin B (NKB) receptor, encoded by TACR3, is widely expressed within the central nervous system, including hypothalamic nuclei involved in regulating GnRH release. We have recently reported two mutations in transmembrane segments of the receptor and a missense mutation in NKB in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).

Patients And Methods: We sequenced the TACR3 gene in a family in which three siblings had nIHH.

Assessment of left ventricular function and Tei index by tissue Doppler imaging in patients with slow coronary flow.

Background: The aim of this study was to assess left ventricular (LV) function and the Tei index by tissue Doppler imaging (TDI), and also to evaluate the relationship of thrombolysis in myocardial infarction (TIMI) frame count (TFC) with the Tei index and LV function in patients with slow coronary flow (SCF).

Methods: We prospectively evaluated 50 patients with SCF and 27 control subjects. Diagnosis of SCF was made by TFC.

Cushing's syndrome due to a non-adrenal ectopic adrenocorticotropin-secreting Ewing's sarcoma in a child.

Ectopic ACTH syndrome (EAS) is extremely rare in the pediatric age group. Sarcomatous tumors causing EAS are even rarer. We report a 9 year-old girl presenting with Cushing's syndrome caused by ectopic ACTH production by a Ewing's sarcoma.

Standardization of the first-trimester fetal cardiac examination using spatiotemporal image correlation with tomographic ultrasound and color Doppler imaging.

Objective: The challenges of the first-trimester examination of the fetal heart may in part be overcome by technical advances in three-dimensional (3D) ultrasound techniques. Our aim was to standardize the first-trimester 3D imaging approach to the cardiac examination to provide the most consistent and accurate display of anatomy.

Methods: Low-risk women with normal findings on first-trimester screening at 11 to 13 + 6 weeks had cardiac ultrasound using the following sequence: (1) identification of the four-chamber view; (2) four-dimensional (4D) volume acquisition with spatiotemporal image correlation (STIC) and color Doppler imaging (angle = 20 degrees, sweep 10 s); (3) offline, tomographic ultrasound imaging (TUI) analysis with standardized starting plane (four-chamber view), slice number and thickness; (4) assessment of fetal cardiac anatomy (four-chamber view, cardiac axis, size and symmetry, atrioventricular valves, great arteries and descending aorta) with and without color Doppler.

The impact of clinical visits on communication skills training.

Objective: The aim of the study is to evaluate a communication skills training program, and to investigate the relationship between communication skills and clinical visits.

Methods: This descriptive study was conducted at Hacettepe University Faculty of Medicine. 216 of the students (48.

Trans fatty acids and fatty acid composition of mature breast milk in turkish women and their association with maternal diet's.

The aim of this study was to determine the fatty acid composition and trans fatty acid and fatty acid contents of breast milk in Turkish women and to find the effect of breastfeeding mothers' diet on trans fatty acid and fatty acid composition. Mature milk samples obtained from 50 Turkish nursing women were analyzed. Total milk lipids extracts were transmethylated and analyzed by using gas liquid chromatography to determine fatty acids contents.

Three-dimensional sonography in the prenatal diagnosis of aortic arch abnormalities.

Purpose: To assess the added value of 3-dimensional (3D) echocardiography with spatiotemporal image correlation (STIC) in the diagnosis of aortic arch abnormalities in fetuses with isolated abnormal upper thoracic 3-vessel view (3VV).

Method: A total of 3,420 women underwent a targeted anatomic survey at 18-22 weeks' gestation in a 1-year period. An isolated abnormal upper thoracic 3VV detected on 2-dimensional (2D) imaging was followed up by conventional 2D echocardiography and 3D fetal echocardiography with STIC.

Adult height in Turkish patients with Turner syndrome without growth hormone treatment.

Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of nongrowth hormone (GH)-treated Turkish patients with TS.

The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children.

Introduction: In this study, we have investigated the role of leptin, soluble leptin receptor(sOb-R), resistin, and insulin secretory dynamics in the development of hypothalamic obesity.

Materials And Methods: Children who had hypothalamo-pituitary tumor were divided into two groups. First group included obese-overweight (hypothalamic obese = HOB group, n = 23) and second group included non-obese children (hypothalamic non-obese = HNOB group, n = 16).