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Biomedical subjects

M Cakir

Publications and source records attributed to M Cakir.

At least 19 recordsLinked to original sources

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.

Adolescent↗

LegumeDB1 bioinformatics resource: comparative genomic analysis and novel cross-genera marker identification in lupin and pasture legume species.

The identification of markers in legume pasture crops, which can be associated with traits such as protein and lipid production, disease resistance, and reduced pod shattering, is generally accepted as an important strategy for improving the agronomic performance of these crops. It has been demonstrated that many quantitative trait loci (QTLs) identified in one species can be found in other plant species. Detailed legume comparative genomic analyses can characterize the genome organization between model legume species (e.g., Medicago truncatula, Lotus japonicus) and economically important crops such as soybean (Glycine max), pea (Pisum sativum), chickpea (Cicer arietinum), and lupin (Lupinus angustifolius), thereby identifying candidate gene markers that can be used to track QTLs in lupin and pasture legume breeding. LegumeDB is a Web-based bioinformatics resource for legume researchers. LegumeDB analysis of Medicago truncatula expressed sequence tags (ESTs) has identified novel simple sequence repeat (SSR) markers (16 tested), some of which have been putatively linked to symbiosome membrane proteins in root nodules and cell-wall proteins important in plant-pathogen defence mechanisms. These novel markers by preliminary PCR assays have been detected in Medicago truncatula and detected in at least one other legume species, Lotus japonicus, Glycine max, Cicer arietinum, and (or) Lupinus angustifolius (15/16 tested). Ongoing research has validated some of these markers to map them in a range of legume species that can then be used to compile composite genetic and physical maps. In this paper, we outline the features and capabilities of LegumeDB as an interactive application that provides legume genetic and physical comparative maps, and the efficient feature identification and annotation of the vast tracks of model legume sequences for convenient data integration and visualization. LegumeDB has been used to identify potential novel cross-genera polymorphic legume markers that map to agronomic traits, supporting the accelerated identification of molecular genetic factors underpinning important agronomic attributes in lupin.

Chromosome Mapping↗

Ret proto-oncogene mutations in apparently sporadic Turkish medullary thyroid carcinoma patients: Turkmen study.

OBJECTIVE: Medullary thyroid carcinoma (MTC) frequently occurs in a sporadic form, but a substantial number of cases are hereditary and appear as part of the multiple endocrine neoplasia type 2 (MEN2) syndromes. Germline mutations in ret proto-oncogene have been shown to be the underlying cause of MEN2 syndromes. DESIGN: We carried out a multi-center study that aimed to perform mutational analysis of so called sporadic MTC patients. METHODS: Fifty-six MTC patients verified by histopathologic examination were subjected to genetic analysis. Exon 10, 11, 13, 14, 15 and 16 of the ret gene were analyzed by DNA sequencing and restriction enzyme digestion method. RESULTS: Among 56 apparently sporadic MTC patients, we identified 6 (10.7%) ret germline mutation carriers. Three individuals carried mutations at codon 634 in exon 11, one at codon 618 in exon 10, and two at codon 804 in exon 14. Identification of the predisposition gene mutation has allowed DNA-based strategy for direct mutation detection in patients with apparently sporadic MTCs. A substantial number of patients with apparently sporadic MTC carried germline mutations and 50% of their first degree relatives are expected to have or to develop MTC and/or other endocrine tumors. CONCLUSIONS: These results indicate the importance of careful genetic surveillance of any patient with apparently sporadic MTCs.

Adult↗

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.

Brain Diseases↗

Histo-anatomical studies on the accessory reproductive glands of the Anatolian souslik (Spermophilus xanthoprymnus) (Mammalia: Sciuridae).

In this study, the histo-anatomy of the accessory reproductive glands of the Anatolian souslik (Spermophilus xanthoprymnus) is investigated, using 102 males of the vouchers which were captured from central Anatolia and eastern Mediterranean regions. Averages of measurements taken from each part of the accessory reproductive glands were as follows: length of vesicular gland [right: 3.96 (+/-0.48) mm; left: 3.70 (+/-0.55) mm]; prostate gland [length: 2.55 (+/-0.38) mm; width: 2.63 (+/-0.45) mm]; length of bulbourethral gland [right: 2.32 (+/-0.33) mm; left: 2.37 (+/-0.39) mm], and the length of the pars pelvina of the urethra was 12.31 (+/-0.76) mm. Histological sections showed that vesicular gland was composed of typically branched tubulo-alveolar glands. As the fibrous connective tissue that was found among alveoles in the prostate was dense and relatively common, only few tubulo-alveolar glands occurred. The bulbourethral gland (Cowper's gland) was a tubulo-alveolar gland with a large and serrated lumen and septa between the alveoles consisted of dense fibro-muscular fibres.

Animals↗

Graves' disease coexisting with probable autoimmune hypoparathyroidism.

Organ-specific autoimmune endocrine disorders may present as single diseases or may occur together in polyendocrine syndromes. We present a report of 23-year-old female with Graves' disease and concurrent hypocalcemia. As she lacked other specific features of autoimmune polyendocrine syndromes, the most likely diagnosis was Graves' disease coexisting with autoimmune hypoparathyroidism.

Adult↗

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.

Body Height↗

Transverse myelopathy: an initial presentation of acute leukemia.

An 8-year-old female with a history of back pain and loss of the ability to walk is presented. Transverse myelopathy was considered clinically after assessing magnetic resonance imaging results of the thoracic spine. Acute lymphoblastic leukemia was diagnosed approximately 5 months after the beginning of symptoms. Reviewing the related literature suggests that transverse myelopathy is not uncommon in neoplastic diseases. Children with a disorder of the spinal cord, especially if accompanied with fatigue and anemia, might have transverse myelopathy-associated malignant disease. Transverse myelopathy can be the initial presentation of acute lymphoblastic leukemia.

Biopsy, Needle↗

Adrenomedullin and nitrite levels in children with Bartter syndrome.

Children with Bartter syndrome have lower than normal vascular reactivity with normotension in spite of biochemical and hormonal abnormalities which are typical of hypertension. Nitric oxide (NO) is a potent endogenous vasodilator, and plays an important role in the control of vascular tone. Adrenomedullin (AM) is a novel hypotensive peptide originally isolated from human pheochromocytoma. The possible role of NO and AM in maintaining this reduced vascular reactivity was examined by studying plasma and urinary nitrite, a stable metabolite of NO, and AM levels in ten children with Bartter syndrome, ten healthy controls, and five children with hypokalemia of causes other than Bartter syndrome (pseudo-Bartter). Urinary excretion of nitrite (mumol/mg urinary creatinine) was 8.9 +/- 1.2 in children with Bartter syndrome, 4.7 +/- 0.9 in healthy controls, and 2.9 +/- 0.8 in pseudo-Bartter (P < 0.05). Plasma nitrite levels (mumol/l) were 101.9 +/- 23.4, 59.9 +/- 14.7, and 65.0 +/- 29.7, respectively (P < 0.05), in the three groups. Urinary excretion of AM (pmol/mg urinary creatinine) was 187 +/- 40, 65 +/- 10, and 160 +/- 50, respectively (P < 0.05), in the three groups. Plasma AM levels were 47.4 +/- 1.8, 39.9 +/- 5.9, and 42.4 +/- 3.9, respectively (P > 0.05), in the three groups. The same parameters were repeated in the two groups of controls and in the Bartter patients in the 6th month of therapy. Urinary nitrite and AM levels were still higher in the Bartter patients than in the other groups. We conclude that in Bartter syndrome the increased NO production may be responsible for the reduced vascular response of the disease. Initially, increased levels of AM in Bartter syndrome and pseudo-Bartter may be a compensatory response to acute hypokalemia; however, continuation of a high level of urinary excretion of AM in children with Bartter syndrome may suggest also the possible role of AM in the reduced vascular response of the disease.

Adolescent↗

The effect of two different doses of oral clodronate on pain in patients with bone metastases.

The aim of this study was to evaluate the efficacy of low dose oral clodronate in palliation of pain arising from bone metastases (BM) and to determine the optimal oral clodronate dose which inhibits osteolysis caused by tumor. Fifty patients with bone pain caused by BM were included in this study. All were receiving antitumor chemotherapy or hormonal therapy. The patients were randomized into three groups according to the dose of clodronate. Groups A and B were given 800 mg/d and 1600 mg/d of oral clodronate respectively for 3 months. Group C was the control group. The effect of clodronate in pain palliation was evaluated with pain score, performance status, and changes in analgesic use. The effect on osteolysis was examined with urinary calcium, hydroxyproline (OHP) and serum cross-linked carboxyterminal telopeptide region of type I collagen (ICTP) levels. Group A contained 16 patients, and groups B and C contained 17 patients each. After 3 months use of oral clodronate, significant decrease in the pain score of groups A and B was noted when compared to group C (P = 0.024 and P = 0.007, respectively). The analgesic use of 11 patients in group A (69%) and 8 patients in group B (47%) was decreased, but only the decrease in group A was statistically significant (P = 0.038). Pain score increased in 5 patients in group C (29%), and 3 patients in groups A (19%) and B (18%) each. Urinary calcium, OHP and serum ICTP levels increased in group C and decreased in groups A and B, but only the decrease of urinary calcium levels of group B was significant (P = 0.003). In conclusion, low dose (800 mg/d) oral clodronate seems to be as effective as standard dose (1600 mg/d) in palliation of bone pain secondary to BM.

Administration, Oral↗

Differences in liver pathology and clinical outcome between two patients with hepatitis B virus and graft versus host disease.

Our two patients undergoing allogeneic bone marrow transplantation (AlloBMT) had both Hepatitis B virus (HBV) and graft-versus-host disease (GVHD). In the first patient, liver enzymes elevated three months after AlloBMT, and GVHD was diagnosed. Two weeks after the diagnosis of GVHD, HBsAg appeared in his serum. At that time, liver biopsy was not able to discriminate two disorders, but his sequential liver biopsies disclosed GVHD. Despite the patient was treated with cyclosporin A (CsA), he died for chronic GVHD. In contrast to the first patient, the second patient had HBsAg prior to GVHD. His liver enzymes deterioration was detected in the first month after AlloBMT, and reached the highest level in the third month while withdrawing CsA. In the fifth month he developed scleradermatous skin changes, and skin biopsy revealed chronic GVHD, whereas concurrent liver biopsy revealed chronic active hepatitis. This observation showed that immunosuppressive conditions such as GVHD or its prophylaxis may affect the appearance of liver pathology caused by HBV, which depends on the time of GVHD development, and the duration and depth of GVHD prophylaxis.

Adult↗

Optical coherence tomography evaluation of macular edema after intravitreal triamcinolone acetonide in patients with parafoveal telangiectasis.

PURPOSE: Parafoveal telangiectasis (PT) is a developmental or acquired microvascular abnormality of the macula. Leakage of the abnormal parafoveal capillaries leads to macular edema with subsequent decrease in visual acuity. Intravitreal triamcinolone acetonide is recently widely used in the management of intraocular proliferative, edematous, and neovascular diseases. METHODS: This report presents the evaluation of three cases with PT in whom intravitreal triamcinolone acetonide (IVTA) injection was performed. Fundus fluorescein angiography (FA) and optical coherence tomography (OCT) were used in follow-up of the patients. RESULTS: Following pars plana intravitreal injection of 4 mg of triamcinolone acetonide, the patients had angiographic improvement of the macular edema and minimal decrease in retinal thickness on OCT, accompanied by improvement in visual acuity and subjective visual assessment. CONCLUSIONS: The results of the present study on parafoveal capillary telangiectasis suggest that the intravitreal injection of triamcinolone acetonide may be a therapeutic option to increase visual acuity and decrease vascular leakage on FA. Following IVTA procedure, follow-up of these patients with both OCT and FA is important for correct clinical evaluation. Future studies on this method seem to be warranted.

Aged↗