Frequency of metabolic syndrome and 25-hydroxyvitamin D3 levels in patients with non-alcoholic fatty liver disease.

AIM: It is known that insulin resistance has an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD) and that serum 25-hidroksivitamin D3 [25-(OH)D] levels are found low in the presence of insulin resistance. Metabolic syndrome (MetS) is characterized by insulin resistance. The purpose of the present study was to determine the levels of 25-(OH)D and the frequency of MetS in patients with NAFLD, and to evaluate the association of 25-(OH)D with the histology of NAFLD and metabolic parameters. METHOD: Sixty-three patients with NAFLD confirmed by liver biopsy (29 females and 34 males, mean age 42.70±9.82 years) and 46 healthy controls (16 females and 30 males, mean age 37.54±8.56 years) were included in the study. International Diabetes Federation criteria were used for MetS diagnosis. Insulin resistance was determined according to the Homeostasis Model of Assessment (HOMA-IR) method. The groups were compared for 25-(OH)D levels and MetS frequencies. Correlation analysis was used to evaluate relationships between 25-(OH)D and metabolic parameters and/or NAFLD histology. RESULTS: 25-(OH)D levels were lower in the NAFLD group compared to the control group (36.06±13.07 ng/mL vs. 51.19±23.45 ng/mL, respectively, P<0.01), while MetS frequency was higher (66.7% vs. 15.2%, P<0.01). In the NAFLD group, 25-(OH)D levels were negatively correlated with non-alcoholic steatohepatitis scores and HOMA-IR (r=-0.317, P=0.011 and r=-0.437, P=0.001, respectively). CONCLUSION: The present study demonstrated higher frequency of MetS and lower levels of 25-(OH)D in patients with NAFDL, and a negative association of 25-(OH)D levels with non-alcoholic steatohepatitis scores and insulin resistance.

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).

Small mutations are the cause of the disease in one third of cases of Duchenne and Becker muscular dystrophy (DMD/BMD). The identification of point mutations in the dystrophin gene is considered to be very important, because it may provide new insights into the function of dystrophin and direct information for genetic counselling. In this study, we have screened 18 deletion-prone exons (25.5% of the coding region) of the dystrophin gene by using a modified non-isotopic multiplex single-stranded conformation analysis (SSCA). Mutations responsible for the disease phenotype could be identified in five out of 56 unrelated DMD/BMD patients without detectable deletions. Two of these mutations, 980-981delCC and 719G > C, are novel mutations which have not been described previously. Four of the five mutations, including 980-981delCC detected in this study are found to be nonsense or frameshift mutations leading to the synthesis of a truncated dystrophin protein. The missense mutation, 719G > C, causing the substitution of highly conserved alanine residue at 171 with proline in the actin binding domain of the dystrophin, is associated with a BMD phenotype. This study also revealed the presence of six polymorphisms in Turkish DMD/BMD patients.

Identification of Deletion Carriers in Duchenne/Becker Muscular Dystrophy Families Using a Digoxigenin-Labeled Quantitative Polymerase Chain Reaction Technique.

Background: A quantitative polymerase chain reaction (PCR) technique based on the incorporation of digoxigenin (DIG), and visualization of the labeled fragments for the detection of deletion carriers in Duchenne/Becker muscular dystrophy families has been developed. Methods and Results: Sixty-five DNA samples taken from mothers and/or sisters of familial and sporadic deletion patients were investigated in the exponential phase of amplification. All obligate carriers were correctly identified using this technique. In more than 95% of deletion families, possible carriers could be screened by using four different multiplex systems specifically designed to increase the efficiency of the detection. Deletions were found to be present in 42% of possible carriers. All these results were confirmed by computer-assisted laser densitometry. Conclusions: Dosage analysis by DIG-labeled quantitative PCR is a reliable and accurate technique for detecting Duchenne/Becker muscular dystrophy deletion carriers.

Partial sacral resection and reconstruction with bone cement. Discussion of an operative experience.

Sacral resection is often the only way for effective palliation of the severe pain in tumors involving sacrum. However the operation hardly seems to be acceptable with the reported operative times, blood losses and complication rates. A case of retrorectal leiomyosarcoma invading sacrum, with severe pain resistant to combined irradiation and chemotherapy is reported. The tumor was removed with resection of the right two thirds of S2, S3 and S4, and the sacrum was reconstructed with bone cement. Complete relief of the pain was obtained with no postoperative complications. It is concluded that incomplete resection of the sacral vertebrae should be performed for sacral root pain palliation if other methods fail. Bone cement reconstruction seems to be a valuable alternative to muscle flaps in covering sacral defects.

Reduction of major amputations after starting a multidisciplinary diabetic foot care team: single centre experience from Turkey.

INTRODUCTION: It is widely recognized that a multidisciplinary team is effective in the management of diabetic foot ulcers. Contrary to developed countries, multidisciplinary diabetic foot care teams and/or clinics have not been constructed in most centres in developing countries. The aim of this study was to present our data regarding amputation rates and profiles before and after starting the Dokuz Eylul University multidisciplinary diabetic foot care team. METHODS: This study includes data from diabetic foot ulcer episodes which were managed in Dokuz Eylul University Hospital between January 1999 and January 2008. The data was collected prospectively during a minimum follow-up of 6 months in all ulcers. After January 2002, management of ulcers was coordinated by the diabetic foot care team (n=437). Amputation rates were compared to those who were admitted before January 2002 (n=137). RESULTS: Overall amputation and minor amputation rates were similar for both periods. However, major amputations were observed to be decreased after starting the Dokuz Eylul University multidisciplinary diabetic foot care team (20.4% vs. 12.6%, p=0.026). CONCLUSIONS: Our results demonstrated that major amputation rates can be reduced by team work. Formation of multidisciplinary diabetic foot care teams and clinics should be encouraged in Turkey.

Primary non-functioning tumours of the adrenal cortex: an eight-year experience in Turkey.

OBJECTIVE: To report our eight year experience of the treatment of primary non-functioning adrenal tumours diagnosed incidentally by computed tomography or ultrasonography. DESIGN: Open study. SETTING: University hospital, Turkey. SUBJECTS: 20 patients with primary non-functioning adrenal tumours that were diagnosed incidentally during the eight years 1986-93 and who were treated in our department. INTERVENTIONS: All patients underwent detailed endocrine studies followed by unilateral adrenalectomy. MAIN OUTCOME MEASURES: Morbidity, mortality, and outcome. RESULTS: There were 18 women and 2 men, mean age 50 (range 24-67). No patient died and one developed a wound infection. Histopathological examination showed adrenocortical adenoma (n = 17), carcinoma (n = 2, one of which was a 57-year-old woman with a 35 mm tumour), and hyperplasia (n = 1). CONCLUSION: Excision of non-functioning adrenal tumours is safe and we recommend it because there are no exclusion criteria for malignancy, and non-operative treatment has not been clearly defined.

Comparison of the results of different surgical techniques in the management of hydatid cysts of the liver.

Between 1980 and 1985, a total of 260 patients with hydatid cysts of the liver have been treated surgically at the Department of Surgery of University Hospital of Ankara. All patients with organ cysts of other than the liver are excluded. In this retrospective study, the results of different surgical techniques were compared with respect to postoperative complications, morbidity, mortality, and recurrence of disease. Patients were divided into 2 groups retrospectively. The first group (I) involved patients treated without drainage (n = 87), and the second group (II) involved patients treated with external drainage (n = 173). Postoperative complication rates were 10.8% in group I, and 65.8% in group II. Mean postoperative hospital stay was 9.9 +/- 0.8 days in group I, and 20.6 +/- 1.1 days in group II. Most of the patients in group II had purulent or biliary discharge from the drainage site (average, 199 +/- 47 days). During the follow-up period, which varied from 1 to 6 years, recurrence rates were not significantly different in the 2 groups. The results strongly suggest that in the management of uncomplicated hydatid cysts of the liver, the surgical techniques which do not employ drainage of the cystic cavity are superior to those which use drainage.

Reliability of cord formation in BACTEC 12B/13A media for presumptive identification of Mycobacterium tuberculosis complex in laboratories with a high prevalence of Mycobacterium tuberculosis.

A total of 1208 positive BACTEC vials were examined for the presence or absence of serpentine cording. A very high (92.9%) rate of laboratory prevalence was obtained for Mycobacterium tuberculosis complex. The sensitivity, specificity, positive and negative predictive values of this test were 92.7%, 95.3%, 99.6% and 50.0%, respectively. It was concluded that testing cord formation in laboratories that have a high prevalence of Mycobacterium tuberculosis complex is an exceptionally reliable method for preliminary reporting of cording-positive cases; however, for cording-negative cases, preliminary reports based solely on cord formation are not reliable. It was also observed that the length of the incubation period has a significant effect on cord formation. Incubation periods of 4 days or less are not sufficient to determine noncording in smears prepared from positive BACTEC vials.

Use of autologous fibrin glue in the treatment of splenic trauma: an experimental study.

There is little doubt that preserving the spleen will contribute to a much more favourable outcome in patients undergoing splenic surgery, as a result of avoiding the well known risks of splenectomy. Among many operative methods described for splenic salvage, application of autologous fibrin glue (AFG) is particularly promising because of its unique characteristics. The use of AFG has been evaluated and its efficacy and tissue compatibility assessed in the treatment of splenic trauma in 15 partially splenectomized New Zealand White rabbits. The application of the AFG to the resected splenic surface achieved complete haemostasis in all animals. The animals were divided into four groups and were killed at varying intervals ranging from 24 h to 10 weeks. During re-exploration there was no evidence of recurrent bleeding and histopathological examination revealed progressive absorption of the AFG with a minimal inflammatory response. It is concluded that AFG is an effective haemostatic agent with good systemic and local compatibility and can be used in splenic salvage, which thereby avoids the use of non-autologous products with their risks of disease transmission.

Adrenal autotransplantation after total adrenalectomy: delayed determined function.

Adrenal autotransplantation after bilateral total adrenalectomy has been utilized to eliminate the need for replacement therapy and to prevent the late occurrence of Nelson's syndrome in some patients with Cushing's disease. It is possible to follow these cases up closely today, owing to the highly developed hormonal evaluation and imaging techniques. In this study, two patients who underwent bilateral total adrenalectomy and cortex autotransplantation are presented. The autografts were found functional and the patients had not required any steroid replacement therapy.

The importance of lifelong follow-up for patients with pheochromocytoma: report of a case.

We report herein the case of a patient who developed a malignant recurrence of pheochromocytoma 13 years after undergoing complete resection of a histologically benign, unilateral, sporadic tumor. A discussion on the importance of lifelong follow-up for patients undergoing surgery for pheochromocytoma follows this case report.

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA.

Identification of the parental origin of polysomy in two 49,XXXXY cases.

The parental origin and mechanism of formation of polysomy X were studied in two polysomic cases, using four X-linked restriction fragment length polymorphisms, three (CA)n dinucleotide repeat sequences and one variable number tandem repeat (VNTR) locus as genetic markers. A nonradioactive technique based on the hybridization of the polymerase chain reaction (PCR) product was developed for the analysis of dinucleotide repeats. Segregation analysis using different nonradioactive approaches based on the PCR, revealed that all four X chromosomes were of maternal origin. These data provide additional evidence of an identical mechanism of successive nondisjunctions in maternal meiosis I and II.