Evaluation of IL-17A expressions in high-grade glial tumors receiving radiotherapy.

Aim: In this study, we aimed to investigate the interleukin-17A (IL-17A) levels in patients with high-grade glial tumors before receiving radiotherapy, immediately after radiotherapy, and 3 months after radiotherapy. Patients and Methods: A total of 33 patients who applied to Adana City Training and Research Hospital, Department of Radiation Oncology between December 2016 and May 2018 was included in this study. A total of three blood samples was taken from each patient to assess IL-17A levels before and after radiotherapy and 3 months after the completion of radiotherapy. Results: The differences in IL-17A levels between genders were not statistically significant. IL-17A levels progressively decreased after the radiotherapy and 3 months after the radiotherapy as compared to the levels before radiotherapy. However, this was not statistically significant. IL-17A levels in the non-surviving patients were high before and after radiotherapy as compared to the surviving ones, but this was also not statistically significant. Conclusion: As compared to the period before radiotherapy, IL-17A levels tend to decrease in the period of acute and chronic phases of radiotherapy in all patient groups.

Clinical comparison of patients with angiography: Negative perimesencephalic and nonperimesencephalic subarachnoid hemorrhages.

AIMS: This study aimed to compare the clinical courses, complications, and clinical outcome scores of patients with perimesencephalic (PM) and nonperimesencephalic (n-PM) subarachnoid hemorrhage (SAH) with no vascular pathology observed on cerebral angiography. MATERIALS AND METHODS: This retrospective study included 52 of 310 patients who underwent cerebral digital subtraction angiography for SAH between October 2016 and April 2018. The patients were categorized into PM and n-PM groups based on the type of hemorrhage observed on brain CT. The patients Fischer's grades, Glasgow Coma Scale scores, and World Federation of Neurosurgical Societies SAH grades were recorded. Hydrocephalus, vasospasm findings in both groups, and modified Rankin scale (mRS) scores were assessed, and vascular pathology factors (diabetes mellitus, hypertension, and smoking) were compared between the patient groups. RESULTS: The PM group included 30 patients, the n-PM group 22 patients. Minimal hydrocephalus was observed in two patients in the PM group and six patients developed apparent hydrocephalus in the n-PM group. Angiographic vasospasm was observed in four patients in the n-PM group but none of the patients in the PM group. On discharge, all patients in the PM group had mRS scores of 0. One patient in the n-PM group become exitus and 18 patients were discharged mRS 0, 2 for two patients, and 3 for one patient. CONCLUSION: The patients with PM SAH experienced a benign course, whereas those with n-PM SAH showed a higher risk of vasospasm and hydrocephalus as well as worse exit scores.

Endoscopic treatment of suprasellar arachnoid cysts indenting third ventricle with obstructive hydrocephalus in children: Thirteen cases.

AIMS: The present study aimed to evaluate the clinical usefulness of endoscopic treatment of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus and discuss the clinical features and outcomes of thirteen children treated at our institution. METHOD: We treated thirteen pediatric cases of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus between January 2012 and September 2018. Five female and eight male patients were enrolled in the study. The patients had increased intracranial pressure symptoms due to hydrocephaly. Endoscopic treatment was performed in all cases. RESULTS: The patients were followed-up for an average of 36.8 months. The postoperative intracranial pressure findings improved. There was a reduction in the size of the cyst and ventricles and enlargement of the cortical sulci. One patient suffered transient oculomotor nerve deficit. No further surgical interventions, such as shunt placement, were required during the follow-up period. The head circumference of two of the patients with macrocephaly were stable during the follow-up. There were no postoperative recurrences detected. CONCLUSIONS: Endoscopic cyst fenestration and third ventriculostomy are less invasive, safer, and more effective ways to treat suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus in children with hydrocephaly.

Comparison of 1-year results of single transforaminal epidural steroid injection among patients with different spinal pathologies-related radicular pain.

AIMS: This study aims to investigate the effectiveness of transforaminal epidural steroid injection (TFESI) in patients with lumbar radicular pain or radiculopathy caused by different spinal pathologies. METHODS: One hundred and seventy seven patients who underwent single transforaminal epidural steroid injection were included in the study group and divided into 3 subgroups (central spinal stenosis + lateral recess stenosis, foraminal stenosis, lumbar disc herniation) according to existing spinal pathology. Patients' visuel analogue scale (VAS) measures and Oswestry Disability Index (ODI) scores were recorded and the patients who give favourable response to treatment were called respondents and who were not called as non-respondents. Subgroups were compared statistically at the end of 12 months. RESULTS: Sixty patients (33.9%) were considered as respondents and 117 patients (66.1%) were non-respondents in the entire study group. Patients with foraminal stenosis included the vast majority of the respondents and showed better results of pain relief as opposed to patients of other groups at the end of 12 months (P < 0.001). CONCLUSION: TFESI was an effective treatment modality for pain relief and functional improvement in patients with foraminal stenosis. However, it could not produce the same results in patients with central spinal stenosis and lumbar disc herniations.

Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.

Small supernumerary ring chromosomes (sSRC) represent a subset of small supernumerary marker chromosomes (sSMC) where r(8) is relatively common. The phenotype sSRC(8) ranges from almost normal to variable degrees of abnormalities in mosaic or non-mosaic conditions. We present a new patient of de novo mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p11.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47,XY,+r(?) [47]/46,XY [36] and we performed array comparative genomic hybridization (array-CGH) in order to precisely define the extension about chromosomal origin of the duplicated region in a patient. Array-CGH analysis confirmed that the sSRC derived a 43.921 Mb genomic gain of chromosome 8 (p11.21-q21.13). Common clinical features of the patient included multiple congenital anomalies, developmental delay, thoracolumbar scoliosis, mild pulmonary stenosis, laryngomalacia, hypospadias and atypical facial appearance. With this study a patient involving mosaic trisomy 8p11.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q.

A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report.

Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X, without any mosaicism. SRY gene was positive by polymerase chain reaction (PCR), and rearranged on distal part of the 7th chromosome by fluorescence in situ hybridization (FISH) analysis. SRY, normally located on the Y chromosome, is the most important gene that plays a role in the development of male sex. SRY gen may be translocated onto another chromosome, mostly X chromosome in the XX testicular DSD. On the other hand very few cases of 45 X testicular DSD were published to date. Other clinical manifestations of our patient were compatible with distal 7 q deletion syndrome. To the best of our knowledge this is the first case of 45 X testicular DSD with SRY gene rearranged on the 7th autosomal chromosome.

Short stature, renal and thumb agenesis associated with situs inversus totalis: a case report.

Situs inversus is a laterality disorder of the internal organs, which create a mirror image of the normal morphology, and are associated with cardiovascular, abdominal, and pulmonary malformations. We report a case with constitutional growth delay, thumb and renal agenesis, dysmorphic facial features, carpal tunnel syndrome and situs inversus totalis.

Bone mineral status, bone turnover markers and vitamin D status in children with congenital adrenal hyperplasia.

AIM: Treatment of congenital adrenal hyperplasia (CAH) consists of lifelong glucocorticoid therapy (GT), and long-term GT may cause osteoporosis. We aim to analyse bone mineral status (BMS) and bone turnover markers in children with CAH. Methods. The study included 17 patients with CAH (mean age ± SD; 7.96± 3.58 years, range 3-13.3 years) and age-matched controls. Bone metabolism rate, vitamin D status and BMS were analyzed. Alterations in bone metabolism rate were prospectively evaluated. Results. We found that BMS Z score did not differ between the patients and control group. Vitamin D deficiency is common in groups, and osteocalcin, ß crosslaps and PTH was higher in patients than the healthy controls (5.3±3.4 vs. 3.2±1.8, P=0.036 and 2.19±1.59 vs. 1.27±0.99, P=0.049, 38.1±18.3 vs. 22.7±13.3, P=0.009, respectively). BMS Z score was only positively correlated with 17 OHP levels (r=0.462, P=0.05) and height SD Z scores (r=0.477, P=0.049). Seasonal measurements of vitamin D status, PTH levels and bone turnover markers exhibit that PTH levels, osteocalcin and ß crosslaps increase in response to low vitamin D levels. Conclusion. Children with CAH have BMS values that are not different age-matched controls. Vitamin D status should be systematically measured in CAH patients, and supplementation should be recommended in patients with low vitamin D levels.

Alkaline phosphatase: can it be considered as an indicator of liver fibrosis in non-alcoholic steatohepatitis with type 2 diabetes?

OBJECTIVE: While isolated hepatosteatosis is a benign disease, in minority of cases non-alcoholic steatohepatitis (NASH) may even lead to cirrhosis in long-term. In order to find the stage of the disease and determine the prognosis, a liver biopsy is indicated. In this study, we studied the relationship of liver histopathological findings with serum levels of hepatic enzymes. METHODS: We recruited 52 cases of NASH with Type 2 diabetes mellitus. Diagnosis of NASH was made based on biochemical tests, ultrasound images and liver biopsy. RESULTS: Steatosis was mild in 57.7%, moderate in 30.8%, and severe in 11.6% of patients. While no infiltration was found in 78.8% of cases, there was a grade-1 infiltration in 15.4% and a grade-2 infiltration in 5.8% of cases. Similarly, no fibrosis was found in 42.3% of patients, but there was a stage-1 fibrosis in 50%, and a stage-2 fibrosis in 7.7% of cases. In patients with severe steatosis, serum levels of AST were higher than mild or moderate stage steatosis. Accordingly, in patients with no inflammation, serum levels of ALT were higher than in patients with inflammation. However, in patients with fibrosis, triglycerides levels were significantly lower and ALP was significantly higher than in patients without fibrosis. The correlation analysis indicated a positive association between serum levels of ALP and C-peptide. CONCLUSION: In addition to conventional risk factors such as age, presence of diabetes, female sex; higher levels of ALP may be considered as a risk factor linked to hepatic fibrosis in patients with NASH and type 2 diabetes (Tab. 6, Ref. 8).

A short course of add-on adefovir dipivoxil treatment in lamivudine-resistant chronic hepatitis B patients.

The aims of the study were to investigate the efficacy of rescue therapy with lamivudine (LAM) and adefovir (ADV) combination for 6 months followed by ADV monotherapy in lamivudine-resistant chronic hepatitis B (LAM-R CHB) patients, and to analyze the frequency of ADV resistance mutant development in such patients. A total of 170 consecutive LAM-R CHB patients (male/female: 130/40, mean age: 42.9+/-13.4 years) with viral breakthrough under LAM therapy were analyzed. A total of 68 had HBeAg-positive. Patients received rescue therapy with LAM [100 mg (qd)]+ADV [10 mg (qd)] for 6 months after which LAM was discontinued. HBV-DNA was assessed with the HBV-DNA 3.0 bDNA assay. ADV-resistant mutations were identified by sequencing the reverse transcriptase region. The median duration of rescue therapy was 24 months. Cumulative probability of becoming HBV-DNA undetectable was 33.8%, 59.6% and 68.2% after 24, 48 and 96 weeks of treatment, respectively. These figures were 43.2%, 58.0% and 73.1% for ALT normalization. Among 68 HBeAg-positive CHB patients, 10 patients had an e-antigen seroconversion. Low baseline HBV-DNA level (<10(7) copies/mL) was a significant predictor of response to ADV treatment (P<0.01). Cumulative probability of ADV resistance was 1.2%, 15.1% and 37.3% at 12, 24 and 36 months of therapy, respectively. By multivariate analysis, baseline high viral load and primary nonresponse to treatment at week 24 predicted ADV resistance. The data indicate that a time limited add-on strategy does not provide benefit over the switch strategy with respect emergence of ADV resistant mutants in LAM-R CHB patients.

Crimean-Congo haemorrhagic fever among children in north-eastern Turkey.

AIM: To analyse the epidemiological and clinical features of children with Crimean-Congo haemorrhagic fever (CCHF) in north-eastern Turkey. METHODS: A retrospective study of demographic features and physical and laboratory findings in 21 children with CCHF is described. Clinical course, treatment modalities and outcome were analysed. RESULTS: Most patients were admitted in June and July 2008; most were from the Gumushane and Kelkit valleys and half of them lived in rural areas. Mean (SD) age was 10.3 (3.9) years and the disease was more common in males (71.4%). Approximately 70% had a history of tick bite. The main symptoms were fever (17, 80.9%), nausea (11, 52.3%), malaise (10, 47.6%) and headache (7, 33.3%). At initial examination, approximately 70% of patients had leukopenia and 65% had thrombocytopenia. Anaemia developed during follow-up in six patients. Liver involvement was seen in 12 patients and one patient had acute tubular necrosis. Six patients had haemophagocytosis. Patients were hospitalised for a median 8 days (range 3-22) and nine patients had bleeding from various sites approximately 3-5 days after hospitalisation. Subcutaneous haematoma (6), especially epistaxis and at venepuncture sites (6) were the most common sites of bleeding. Pulmonary haemorrhage developed in two patients and they required ventilatory support. Overall mortality related to CCHF was 4.7% (one patient). CONCLUSION: Early diagnosis of CCHF and early referral to specialised centres are important for outcome. Exceptional epidemics may be seen in future owing to ecological and environmental changes.

Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions.

Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, cerebral atrophy, mental retardation, glaucoma, seizures and hemiparesis. CT and MR are complementary in the evaluation of this disease. Epilepsy is an essential feature of Sturge-Weber syndrome and it has a major significance for prognosis and treatment. We report a 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported.

Iodine status, thyroid function, thyroid volume and thyroid autoimmunity in patients with type 1 diabetes mellitus in an iodine-replete area.

OBJECTIVE: To analyze the prevalence and clinical significance of thyroid autoimmunity, thyroid volume and iodine status in patients with type 1 diabetes mellitus compared with age and sex matched healthy controls, in an iodine-deficiency improved area. METHOD: Fifty-eight patients with type 1 DM, 30 female and 28 male, who attended the pediatric endocrinology clinic of Karadeniz Technical University Hospital were included into the study. They were compared with 58 healthy children matched for sex and age. Routine thyroid function parameters, thyroid autoantibodies (TPOAb, TGAb and TRAb) and urinary iodine excretion were measured and thyroid volume was determined by ultrasonography (US). RESULTS: Twenty-six patients (44.8%) in diabetic patients and 20 subjects (34.5%) in the control group had thyroid autoantibody positivity. TPOAb and TGAb positivity were significantly high in diabetic patients (P=0.01 and P=0.032, respectively). Thyroid US revealed a thyroid volume of 6.6+/-3.5 ml (median 6.4 ml, range 1.117.2 ml) in the diabetic patients compared with 3.7+/-2 ml (median 3.1 ml, range 0.8-8.6 ml) in the control group (P=0.0001). Median urinary iodine levels of both groups were clearly above the threshold level for iodine deficiency, but 26 patients with type 1 DM (44.8%) and 16 controls (27.5%) had urinary iodine excretion below 100 microg/L, and 21 (36.2%) of diabetic patients and two subjects (3.4%) of the control group were consistent with severe iodine deficiency. No significant differences were noted in diabetic patients in terms of age, duration and metabolic control of the disease and thyroid volume when compared according to the autoantibody presence. Additionally, there were no significant differences between the iodine deficient and iodine sufficient diabetic patients in terms of age, sex, duration of disease, HbA1c, thyroid hormones and thyroid volumes. Thyroid autoimmunity was lower in patients with iodine deficiency (38.4% vs. 50%), but not statistically significant. CONCLUSION: We found that type 1 DM patients had larger thyroid volume compared with healthy control groups, and a large portion of them had the markers of autoimmune thyroid disease and iodine deficiency. Surprisingly, we found that a large portion of the healthy children had TRAb positivity. We proposed that TRAb must be considered in community surveys or prevalence studies of autoimmune thyroid disorders in iodine-replete areas. Additionally, prospective longitudinal studies are needed to determine the clinical significance of TRAb positivity in diabetic patients.

Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.

Efficacy of alpha interferon therapy for lamivudine resistance in chronic hepatitis B.

OBJECTIVES: The occurrence of lamivudine resistance is often associated with the clinical breakthrough, which is characterised by the reappearance of hepatitis B virus (HBV) DNA in serum and the elevation of aminotransferases. We evaluated the efficacy of alpha interferon for clinical breakthrough in patients receiving lamivudine therapy. PATIENTS: Six chronic hepatitis B patients receiving lamivudine were enrolled in the study. RESULTS: Under lamivudine therapy, clinical breakthroughs occurred in between fifteenth and thirty-fourth month of lamivudine therapy. HBV DNA reappeared, and alanine aminotransferase was elevated. Genotypic analysis showed M552V, M552I and L528M mutations. After determining the clinical breakthrough, standard alpha interferon-2b was given for 6 months. Lamivudine was also maintained. In only one patient, HBV DNA became negative by polymerase chain reaction, and serum alanine transaminase level was normal at the end of therapy. CONCLUSION: Alpha interferon added to lamivudine is generally ineffective in the treatment of lamivudine resistance.

Adrenomedullin in cirrhotic and non-cirrhotic portal hypertension.

AIM: Adrenomedullin (ADM) is a potent vasodilator peptide. ADM and nitric oxide (NO) are produced in vascular endothelial cells. Increased ADM level has been linked to hyperdynamic circulation and arterial vasodilatation in cirrhotic portal hypertension (CPH). The role of ADM in non-cirrhotic portal hypertension (NCPH) is unknown. plasma ADM levels were studied in patients with NCPH, compensated and decompensated cirrhosis in order to determine its contribution to portal hypertension (PH) in these groups. METHODS: There were 4 groups of subjects. Group 1 consisted of 27 patients (F/M: 12/15) with NCPH due to portal and/or splenic vein thrombosis (mean age: 41+/-12 years), group 2 consisted of 14 patients (F/M: 6/8) with compensated (Child-Pugh A) cirrhosis (mean age: 46+/-4), group 3 consisted of 16 patients (F/M: 6/10) with decompensated (Child-Pugh C) cirrhosis (mean age: 47+/-12). Fourteen healthy subjects (F/M: 6/8) (mean age: 44+/-8) were used as controls in Group 4. ADM level was measured by ELISA. NO was determined as nitrite/nitrate level by chemoluminescence. RESULTS: ADM level in Group 1 (236+/-61.4 pg/mL) was significantly higher than that in group 2 (108.4+/-28.3 pg/mL) and group 4 (84.1+/-31.5 pg/mL) (both P<0.0001) but was lower than that in Group 3 (324+/-93.7 pg/mL) (P=0.002). NO level in group 1 (27+/-1.4 micromol/L) was significantly higher than that in group 2 (19.8+/-2.8 micromol/L) and group 4 (16.9+/-1.6 micromol/L) but was lower than that in Group 3 (39+/-3.6 micromol/L) (for all three P<0.0001). A strong correlation was observed between ADM and NO levels (r=0.827, P<0.0001). CONCLUSION: Adrenomedullin and NO levels were high in both non-cirrhotic and cirrhotic portal hypertension and were closely correlated, Adrenomedullin and NO levels increased proportionally with the severity of cirrhosis, and were significantly higher than those in patients with NCPH. Portal hypertension plays an important role in the increase of ADM and NO. Parenchymal damage in cirrhosis may contribute to the increase in these parameters.

A rare cause of short stature: Leri Weill dyschondrosteosis.

Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders. Leri-Weill dyschondrosteosis (LWD) is one of the rare genetic disorders of skeletal system resulting with short stature. It is characterized by shortness of stature and Madelung deformity of the wrist. Here we report a case of LWD with some skeletal stigmas of Turner syndrome. She has also depressed medial tibial condyles that to our knowledge, has not previously been reported in LWD.

Crohn's disease; analysis of 105 patients.

In this paper, 105 patients with Crohn's disease, (47 M, 58 F), mean age 37.4 +/- 42 years were evaluated clinically, demographically and epidemiologically. Mean age of patients at the time of diagnosis was 26.5 +/- 10.9 years. Follow-up period was 2.7 +/- 2.1 years on average. On admission, symptoms or signs were as follows: right lower quadrant pain 90.5%, abdominal mass 18.1%, enterocutaneous fistula 11.4% and subileus 9.5%. Diagnosis of Crohn's disease was established during appendectomy in 14 patients (13.3%). Family history of inflammatory bowel disease was determined only in six patients (5.7%). Intestinal localization were as follows: ileo colonic 52%, ileal 38%, colonic 10%. Clinical forms were inflammatory (68%), fistulous (23%) and obstructive (9%). Sacroiliitis (7.6%), ankylosing spondylitis (4.7%), erythema nodosum (2.9%), pyoderma gangrenosum (1%) were detected as extraintestinal manifestations. Of the patients, 12.4% underwent surgical intervention due to abscess drainage in 6.6%, fistulectomy in 3.8%, stricture resection in 1.9%. Medical therapy alone was sufficient in 75.3% of patients. As a result, our cases mentioned in this paper reflect the general characteristics of Crohn's disease and prominence of regular visits and treatment.