Reviewing the reliability of revised Melbourne Cerebral Palsy Hip Classification System across different medical specialties.

Objectives: The aim of this study was to measure the reliability of the expanded and revised Melbourne Cerebral Palsy Hip Classification System (r-MCPHCS) across different medical specialties.

Patients And Methods: Anteroposterior pelvic radiographs of a total of 44 patients (20 males, 24 females; median 16.7 years; range, 12 to 32 years) with cerebral palsy (CP) were analyzed between January 2005 and December 2020.

Expert opinion on screening, diagnosis and management of diabetic peripheral neuropathy: a multidisciplinary approach.

The proposed expert opinion aimed to address the current knowledge on conceptual, clinical, and therapeutic aspects of diabetic peripheral neuropathy (DPN) and to provide a guidance document to assist clinicians for the best practice in DPN care. The participating experts consider the suspicion of the disease by clinicians as a key factor in early recognition and diagnosis, emphasizing an improved awareness of the disease by the first-admission or referring physicians. The proposed "screening and diagnostic" algorithm involves the consideration of DPN in a patient with prediabetes or diabetes who presents with neuropathic symptoms and/or signs of neuropathy in the presence of DPN risk factors, with careful consideration of laboratory testing to rule out other causes of distal symmetric peripheral neuropathy and referral for a detailed neurological work-up for a confirmative test of either small or large nerve fiber dysfunction in atypical cases.

Evaluation of the functional and radiologic outcomes in talus fractures following surgery.

Objective: The long-term outcome of talus fractures is not yet sufficiently favorable despite improved resources and growing experience. With increasing fracture severity, the complication rate increases. This study aimed to evaluate the mid-to-long-term clinical and radiologic outcomes using the scoring system and imaging archive in patients with talus fractures who were surgically treated in our hospital.

Comparison of nitric oxide level in Behçet's disease patients with or without psychiatric comorbidity.

Both Behçet's disease (BD) and major depressive disorder (MDD) are diseases associated with nitric oxide (NO). We hypothesized that the comorbidity of MDD affects the levels of NO in BD. In this study, we investigate whether there was a difference in NO levels among BD patients with accompanying MDD, BD patients with no depressive symptoms and healthy control group.

Influence of Obesity Surgery on Restless Leg Syndrome.

Objective: To investigate whether restless leg syndrome (RLS) symptoms improved and treatment requirement decreased through weight loss on postoperative follow-ups of the patients who underwent laparoscopic sleave gastrectomy (LSG) due to obesity and who were started medical therapy due to RLS.

Study Design: A descriptive study.

Place And Duration Of Study: General Surgery Outpatient Clinics of Research and Training Hospital of Medical School, Adiyaman, Turkey, from May 2014 to December 2017.

Evaluation of choroidal perfusion changes in obese patients: ocular effects of insulin resistance.

Purpose: We aimed to evaluate choroidal per-fusion changes in obese patients using optical coherence tomography and dynamic contour tonometry, to determine whether these changes are associated with body mass index, and to assess the ocular effects of insulin resistance.

Methods: We retrospectively evaluated the data of 32 obese patients with body mass index >30 kg/m2 and 45 healthy control individuals. Intraocular pressure and ocular pulse amplitude values of the patients were measured using dynamic contour tonometry, and the mean choroidal thickness was measured using enhanced depth imaging optical coherence tomography.

Histopathological Findings in Morbid Obese Patients Undergoing Laparoscopic Sleeve Gastrectomy: Does H. pylori Infection Effective on Pathological Changes?

Unlabelled: AıM: To determine the prevalence of histopathological findings requiring clinical follow-up in morbidly obese patients undergoing laparoscopic sleeve gastrectomy (LSG) and evaluate the relationship between these findings and Helicobacter pylori as well as to add more data to the published literature in this regard. MATERıAL AND METHODS: Overall, 161 morbidly obese patients with body mass index (BMI) > 40 kg/m who underwent LSG between May 1, 2014 and May 31, 2017 were retrospectively included in the study. The findings of the histopathological evaluation of the resected gastric material and the relationship between these findings and histopathologically detected H.

Hypovolemia-related gastric tissue damage in the setting of upper gastrointestinal bleeding.

Background/aims: Much is known about the gastric tissue damage that is associated with hypovolemic stress, but gastrointestinal bleeding due to gastric injury and further gastric injury due to hypovolemia have not been evaluated in previous research. The aim of this study was to assess oxidative gastric tissue damage specifically linked to hypovolemia in patients with upper gastrointestinal bleeding.

Methods: The study included 30 patients who presented with acute upper gastrointestinal bleeding and 30 controls.

The relationship between severity of liver cirrhosis and pulmonary function tests.

Pulmonary complications, mainly hepatopulmonary syndrome (HPS), are frequently observed in liver cirrhosis. In this study, the aim was to investigate the frequency of hypoxemia and impairment of pulmonary function tests (PFT) in patients with liver cirrhosis and to examine the relationships of these impairments with liver failure. A total of 39 patients with cirrhosis, 24 males and 15 females, were included in our study.

Gastric tissue oxidative changes in portal hypertension and cirrhosis.

Gastric mucosal lesions are very common in portal hypertension and cirrhosis. The aim of this study was to assess for oxidative gastric tissue damage in cirrhosis and evaluate relations with portal hypertension and cirrhosis parameters. The study included 30 patients with cirrhosis and 30 controls.

Retrospective analysis of patients with idiopathic thrombocytopenic purpura from Eastern Anatolia.

Objective: We evaluated the clinical features and the effects of various treatment modalities on the clinical course in patients diagnosed with idiopathic thrombocytopenic purpura (ITP).

Materials And Methods: Retrospective investigation of the medical records of 168 patients at our center between 1994 and 2005 was done.

Results: Of the 168 patients, 115 (68.

Gestational diabetes mellitus in patients receiving long-term corticosteroid therapy during pregnancy.

Aim: Little data exist on the impact of chronic low dose corticosteroid therapy during pregnancy on gestational diabetes mellitus (GDM).

Method: We compared 25 pregnant women receiving long-term (>4 weeks) corticosteroid for newly diagnosed idiopathic thrombocytopenic purpura (ITP) (study group) and 108 normal pregnant women (control group) in this case-control study. Main outcome measures were 1-h, 50-g and 3-h, 100-g glucose tolerance tests (GTTs).

The molecular basis of familial hypercholesterolaemia in Turkish patients.

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of lipoprotein metabolism. In the majority of patients FH is caused by mutations in the gene for the low-density lipoprotein receptor (LDLR), and to date more than 700 mutations have been reported worldwide. In this study, 36 paediatric patients with a clinical diagnosis of FH (20 homozygous and 16 heterozygotes) were screened for mutations in the LDLR gene.

Severe hemolytic anemia associated with Hb Volga [beta27(B9)Ala-->Asp]: GCC-->GAC at codon 27 in a Turkish family.

A boy presented at age 4 years with severe congenital hemolytic anemia characterized by highly elevated reticulocyte count (30-50%) and prominent basophilic stippling. Hb had been 4 g/dL at age 7 months. The patient was on a monthly transfusion regimen up to the age of 7 years, when he underwent splenectomy.

Mitochondrial DNA sequence variation in the Anatolian Peninsula (Turkey).

Throughout human history, the region known today as the Anatolian peninsula (Turkey) has served as a junction connecting the Middle East, Europe and Central Asia, and, thus, has been subject to major population movements. The present study is undertaken to obtain information about the distribution of the existing mitochondrial D-loop sequence variations in the Turkish population of Anatolia. A few studies have previously reported mtDNA sequences in Turks.

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by mutations in either the cubilin (CUBN; MGA1; MIM# 602997) or the amnionless (AMN; MIM# 605799) gene. To explain the peculiar geographical distribution, we hypothesized that mutations in one of the genes would mainly be responsible for the disease in Scandinavia, and mutations in the other gene in the Mediterranean region.

Effects of neutral, cationic, and anionic chromium ascorbate complexes on isolated human mitochondrial and genomic DNA.

The relative activities of neutral, cationic, and anionic chromium ascorbate complexes toward isolated human mitochondrial and genomic DNA were investigated at physiologically relevant conditions by agarose gel electrophoresis. A direct relationship between the charge of the Cr(III) species and their DNA-damaging properties was found. The cationic species were found to be fully capable of DNA-cleavage, even in short incubation periods.

Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients.

We report two novel mutations in factor XIIIA (FXIIIA) gene that caused congenital factor XIII deficiency in two unrelated patients. The first alteration, a missense mutation Leu235Arg in exon 6 of FXIIIA gene, is located in the putative calcium-binding part of the core domain of the enzyme. Replacement of non-polar hydrophobic leucine residue with positively charged arginine residue is likely to effect protein folding thus destabilizing the molecule.

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.

Molecular analysis of factor XIII A gene on three unrelated Turkish families identified two novel and one known mutations. One novel mutation is a substitution of cytidine by guanine at codon 541 in exon 12, beta barrel 1 domain of the coagulation factor XIII A subunit gene resulting in the conversion of asparagine to lysine. The mutation alters the restriction site of the enzyme MboII.

Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient.

A 30-year-old female who is homozygous for a Hb E-like abnormal hemoglobin and her immediate relatives were studied. Clinical examination of the proband revealed no abnormality. Routine hematological analysis showed that her hemoglobin level was 12 g/dL, MCV 82 fL, MCH 28 pg, RDW 15%.

Chronic hemolytic anemia associated with glucose 6-phosphate dehydrogenase (Guadalajara)1 159 C --> T (387 Arg --> Cys) deficiency associated with Gilbert syndrome in a Turkish patient.

The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.

beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.

We provide the first description of a homozygote patient for the G-->A substitution in the 5' UTR of the beta-globin gene. The proband was a 17-year-old girl with beta-thalassaemia intermedia who had never received a blood transfusion. The physical examination revealed a well-developed women with no facial or bony abnormalities.

A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.

Mutations in the melanocortin 4 receptor gene (MC4R) are the most common cause of monogenic human obesity. As part of our ongoing project entitled 'Turkish Obesity Genome Study' we determined the nucleotide sequence of the entire coding region of the MC4R gene in 40 morbidly obese subjects from independent families. Here we report a novel heterozygous mutation (N274S) in an adult female obese individual (age: 52 yrs, BMI 41.

Vitamin d-receptor gene polymorphisms and vertebral bone density in men with idiopathic hypogonadotrophic hypogonadism.

Background: Optimal peak bone mass is closely related to sufficient and appropriately timed androgen release. However, attainment of peak bone mass in men, as in women, is under genetic control, as well as being subject to hormonal and mutational effects. With increasing recognition of osteoporosis and related fractures in men, it is of interest to consider whether there is relationship between bone density and vitamin D receptor (VDR) polymorphisms, as described in women.