Person: HALİLOĞLU, BELMA
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HALİLOĞLU
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BELMA
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Publication Metadata only Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function(SPRINGER, 2015) BEREKET, ABDULLAH; Guran, Tulay; Guran, Omer; Paketci, Cem; Kipoglu, Osman; Firat, Irfan; Turan, Serap; Atay, Zeynep; Haliloglu, Belma; Bereket, AbdullahStuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory factor (LIF) signalling through the intracellular Janus kinase (JAK)/STAT3 signalling cascade. The LIF/LIFR system is highly expressed in and regulates the hypothalamo-pituitary-adrenal (HPA) axis. HPA function was investigated in three STWS patients to characterise consequences of impaired LIF/LIFR signalling on adrenal function. Six genetically proven STWS patients from four unrelated Turkish families were included in the study. Sudden death occurred in three before 2 years of age. Basal adrenal function tests were performed by measurement of early morning serum cortisol and plasma ACTH concentrations on at least two different occasions. Low dose synacthen stimulation test and glucagon stimulation tests were performed to explore adrenal function in three patients who survived. All patients carried the same LIFR (p.Arg692X) mutation. Our oldest patient had attenuated morning serum cortisol and plasma ACTH levels at repeated measurements. Two of three patients had attenuated cortisol response (< 18 mu g/dl) to glucagon, one of whom also had borderline cortisol response to low dose (1 mu g) ACTH stimulation consistent with central adrenal insufficiency. STWS patients may develop central adrenal insufficiency due to impaired LIF/LIFR signalling. LIF/LIFR system plays a role in human HPA axis regulation.Publication Metadata only Change of menarcheal age in schoolgirls living in Istanbul over the last 12 years(2022-09-01) GÜRAN, TÜLAY; GÜRPINAR TOSUN, BUŞRA; HALİLOĞLU, BELMA; DEMİRCİOĞLU, SERAP; HIDIROĞLU, SEYHAN; BEREKET, ABDULLAH; GÜRAN T., Alir F., Arslan Y. T. , Molla G., Sahin B., Sayar M. E. , Atay Z., Helvacioglu D., GÜRPINAR TOSUN B., HALİLOĞLU B., et al.Publication Metadata only Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children(KARGER, 2015) BEREKET, ABDULLAH; Bas, Serpil; Guran, Tulay; Atay, Zeynep; Haliloglu, Belma; Abali, Saygin; Turan, Serap; Bereket, AbdullahCongenital portosystemic shunt (CPSS) is persistence of an anomalous embryological connection of the portal vein with a large vein of the vena cava system. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy, but can be variable in timing and symptomatology. We report 2 girls who presented 10 years apart with the same complaint of early pubarche at age 7 years, with inappropriately low DHEAS levels. In addition to hyperandrogenemia (elevated testosterone and androstenedione) and advanced bone age, both had hyperinsulinemia, and hypothyroxinemia. The 2nd case also had symptomatic hypoglycemia. Presentation of CPSS with this combination of findings in prepubertal children has not been reported previously. With further investigations, we proposed novel mechanisms explaining these manifestations. Hyperandrogenemia is caused by decreased hepatic sulfation of DHEA to less active DHEAS due to shunting of DHEA to systemic circulation. Elevated DHEA is then used for synthesis of more potent androgens. Shunting of postabsorbtive glucose from portal to systemic circulation causes early hyperglycemia leading to exaggerated insulin secretion. Insulin bypasses the hepatic metabolism directly entering into the systemic circulation, which results in hyperinsulinemia, then in turn causes late hypoglycemia. Finally, hypothyroxinemia was linked to thyroxin-binding globulin deficiency, which has not been reported in CPSS. (C) 2015 S. Karger AG, BaselPublication Metadata only Challenges in the management of a 7 years old child with thyrotropin-secreting pituitary adenoma and the review of the literature(2023-01-01) KIRKGÖZ, TARIK; GÜRPINAR TOSUN, BUŞRA; ELTAN, MEHMET; HALİLOĞLU, BELMA; KAYGUSUZ, SARE BETÜL; SEVEN MENEVŞE, TUBA; BOZKURT, SÜHEYLA; ÖNEŞ, TUNÇ; GÜRAN, TÜLAY; DAĞÇINAR, ADNAN; BEREKET, ABDULLAH; DEMİRCİOĞLU, SERAP; KIRKGÖZ T., Abali S., Seker A., GÜRPINAR TOSUN B., ELTAN M., Helvacioglu D., HALİLOĞLU B., KAYGUSUZ S. B., Yavas Abali Z., SEVEN MENEVŞE T., et al.Introduction: Thyrotropin-producing pituitary adenoma (TSHoma) is a very rare disease, representing less than 1% of the pituitary tumours, present with elevated thyroid hormones and normal/high TSH concentrations. Case Presentation: A 7-year-old boy with nervousness was referred by his psychiatrist for elevated free T4, T3 and TSH levels. Initial evaluation revealed an elevated -subunit.Pituitary MRI demonstrated a macroadenoma. The patient underwent a trans-sphenoidal tumour resection (TSS) which showed positive immunohistochemical staining for TSH, growth hormone, and prolactin in tumoral tissue. Euthyroidism was achieved for one year after TSS, then, recurrence of tumour with elevated TSH and thyroid hormone levels necessitated a re-operation with TSS followed by gamma-knife radiosurgery. The euthyroid state was achieved and lasted for 2.5 years this time, but, due to the recurrence, medical treatment had been commenced with cabergoline and octreotide. Euthyroidism was maintained for the last 4 years on monthly octreotide treatment. A repeat MRI demonstrated no pituitary mass but a mass in the sphenoidal sinus had been detected. Removal of this mass by surgery did not achieve euthyroidism. 68Ga-DOTA-TATE PET/CT showed residual tissue extending from the pituitary region to the sphenoid sinus.The patient\"s bone age was advanced 2 years at diagnosis which became 4 years in one year after the diagnosis and remained so throughout follow-up, leading to a final height of -3.3 SDS below his target height at the age of 16 years. Conclusion: The diagnosis, treatment, and follow-up of TSHomas are challenging and short stature due to accelerated bone maturation is a complication of paediatric TSHomas.Publication Metadata only Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia(SPRINGER, 2013) BEREKET, ABDULLAH; Haliloglu, Belma; Guran, Tulay; Atay, Zeynep; Abali, Saygin; Mornet, Etienne; Bereket, Abdullah; Turan, SerapHypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization. It is caused by a loss of function mutations in the tissue nonspecific ALP gene (TNSALP) encoding the tissue nonspecific alkaline phosphatase. A 4-year-and-8-month-old girl presented with premature exfoliation of the anterior incisors and canines. Very low ALP level (27 IU/ml) suggested the diagnosis of hypophosphatasia, which was supported by an elevated urine phosphoethanolamine/Cr of 84 mu mol/mmol (reference range, < 25 mu mol/mmol) and serum pyridoxal-5'-phosphate of 393 mu g/L (reference range, 3.6-18 mu g/L). The phenotype of the patient was subsequently classified as mild childhood hypophosphatasia. TNSALP gene sequencing revealed the homozygous c.382 G > A (p.V128M) mutation. This mutation was previously observed in a series of patients with severe hypophosphatasia, pointing out the possible role of other genetic or environmental factors in the modulation of the hypophosphatasia phenotype.Publication Metadata only Hypothalamic obesity in children: pathophysiology to clinical management(WALTER DE GRUYTER GMBH, 2015) BEREKET, ABDULLAH; Haliloglu, Belma; Bereket, AbdullahHypothalamic obesity (HyOb) is a complex neuroendocrine disorder caused by damage to the hypothalamus, which results in disruption of energy regulation. The key hypothalamic areas of energy regulation are the ARC (arcuate nucleus), the VMH (ventromedial hypothalamus), the PVN (paraventriculer nuclei) and the LHA (lateral hypothalamic area). These pathways can be disrupted mechanically by hypothalamic tumors, neurosurgery, inflammatory disorders, radiotherapy and trauma or functionally as such seen in genetic diseases. Rapid weight gain and severe obesity are the most striking features of HyOb and caused by hyperphagia, reduced basal metabolic rate (BMR) and decreased physical activity. HyOb is usually unresponsive to diet and exercise. Although, GLP-1 and its anologs seem to be a new agent, there is still no curative treatment. Thus, prevention is of prime importance and the clinicians should be alert and vigilant in patients at risk for development of HyOb.Publication Metadata only Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet(ELSEVIER SCIENCE INC, 2014) BEREKET, ABDULLAH; Atay, Zeynep; Bereket, Abdullah; Haliloglu, Belma; Abali, Saygin; Ozdogan, Tutku; Altuncu, Emel; Canaff, Lucie; Vilaca, Tatiane; Wong, Betty Y. L.; Cole, David E. C.; Hendy, Geoffrey N.; Turan, SerapBackground: NSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor (CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice. Objective: To describe a case of NSHPT unresponsive to cinacalcet. Patient and Results: A 23-day-old girl was admitted with hypercakemia, hypotonia, bell-shaped chest and respiratory distress. The parents were first-degree cousins once removed. Serum Ca was 4.75 mmol/l (N: 2.10-2.62), P: 0.83 mmol/l (1.55-2.64), PTH: 1096 pg/ml (9-52) and urinary Ca/Cr ratio: 0.5 mg/mg. First, calcitonin was given (10 IU/kg x 4/day), and then 2 days later, pamidronate (0.5 mg/kg) for 2 days. Doses of cinacalcet were given daily from day 28 of life starting at 30 mg/m(2) and increasing to 90 mg/m(2) on day 43. On day 33, 6 days after pamidronate, serum Ca levels had fallen to 2.5 mmol/l but, thereafter, rose to 5 mmol/l despite the cinacalcet Total parathyroidectomy was performed at day 45. Hungry bone disease after surgery required daily Ca replacement and calcitriol for 18 days. At 3 months, the girl was mildly hypercalcemic, with no supplementation, and at 6 months, she developed hypocalcemia and has since been maintained on Ca and calcitriol. By CASR mutation analysis, the infant was homozygous and both parents heterozygous for a deletion-frameshift mutation. Conclusion: The predicted nonfunctional CaSR is consistent with lack of response to cinacalcet, but total parathyroidectomy was successful. An empiric trial of the drug and/or prompt mutation testing should help minimize the period of unnecessary pharmacotherapy. (C) 2014 Elsevier Inc. All rights reserved.Publication Metadata only Diagnostic Features and Risk Factors for Childhood Thyroid Cancers(2022-09-01) ŞAHİN, PINAR; GÜRPINAR TOSUN, BUŞRA; YUMUŞAKHUYLU, ALİ CEMAL; GÜRAN, TÜLAY; HALİLOĞLU, BELMA; OYSU, ÇAĞATAY; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; ŞAHİN P., GÜRPINAR TOSUN B., YUMUŞAKHUYLU A. C. , GÜRAN T., Helvacioglu D., Abali Z. Y. , HALİLOĞLU B., OYSU Ç., BEREKET A., DEMİRCİOĞLU S.Publication Metadata only Higher insulin detemir doses are required for the similar glycemic control: comparison of insulin detemir and glargine in children with type 1 diabetes mellitus(WILEY, 2015) BEREKET, ABDULLAH; Abali, Saygin; Turan, Serap; Atay, Zeynep; Guran, Tulay; Haliloglu, Belma; Bereket, AbdullahObjectiveWe aimed to compare hemoglobin A1c (HbA1c), total and basal insulin doses, basal insulin injection frequencies, and body mass index (BMI) in children with type 1 diabetes mellitus (T1DM) who are receiving detemir and glargine as basal insulin in a basal-bolus therapy. MethodThis retrospective study included 117 (53 females) children and adolescents with T1DM older than 4 yr of age, minimum diabetes duration of 2 yr, and receiving basal-bolus insulin regimen (at least 4 injections/d, insulin aspart or lispro as bolus insulin). Comparisons were made for those receiving insulin detemir (n = 32) or glargine (n = 85) as the basal insulin. ResultsAge, pubertal status, BMI standard deviation scores, and diabetes duration were similar in detemir and glargine groups. Glycemic control was similar in both groups (HbA1c levels 8.9 2.1% vs. 8.5 +/- 1.7% for detemir and glargine, respectively; p = 0.497). Both mean basal insulin (0.52 vs. 0.41 U/kg/d, p < 0.001) and mean total daily insulin (1.11 vs. 0.93 U/kg/d, p < 0.001) doses were higher in the detemir group. Furthermore, higher ratio of twice-daily basal insulin injection was detected in the detemir group (62.5 vs. 32.9% p = 0.004). Subgroup analysis according to pubertal status, or the number of daily basal injections showed similar results. Conclusion Insulin detemir provides similar glycemic control with glargine, but, approximately 27% higher mean basal and 19% higher mean total insulin doses with two-fold more twice-daily basal insulin injection requirement.Publication Metadata only Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females(WILEY, 2017) BEREKET, ABDULLAH; Haliloglu, Belma; Gokdemir, Yasemin; Atay, Zeynep; Abali, Saygin; Guran, Tulay; Karakoc, Fazilet; Ersu, Refika; Karadag, Bulent; Turan, Serap; Bereket, AbdullahObjective: To determine the prevalence of hypoglycemia in children and adolescents with cystic fibrosis (CF) in 2-hour oral glucose tolerance test (OGTT) and continuous glucose monitoring (CGM) under free-living conditions. Research Design and Methods: Height, weight, body mass index (BMI), hemoglobin A1c (HbA1c), and Forced expiratory volume (FEV1%) were measured in children with CF (aged 5-18 years). Following OGTT, CGM was installed for 3 days. The total hypoglycemic and hyperglycemic time (%) during 3 days was measured. Subjects were categorized according to hypoglycemic time < 3% (hypo -) and = 3% (hypo +). Each category was further divided according to hyperglycemic time < 3% (hyper -) or = 3% (hyper +). Results: OGTT and CGM were sequentially performed in 45 CF patients. The frequency of hypoglycemia in OGTT and hypoglycemic time >= 3% of CGM were 13.3% and 27.5%, respectively. After 5 cystic fibrosis-related diabetes (CFRD) subjects were excluded, the number of subjects in each subgroup was 17 (hypo-/hyper-), 12 (hypo-/hyper+), 6 (hypo+/hyper-), and 5 (hypo+/hyper+). Significantly higher insulin at 120 minutes was observed in OGTT in (hypo +/hyper-), as compared with subgroup (hypo-/hyper-) (P = .018). Total insulin levels were also significantly higher in (hypo+/hyper-), than (hypo-/hyper-), but were similar to those in the healthy control group (P = .049 and P =.076, respectively). There was a female predominance in hypoglycemic subjects both in OGTT and subgroup (hypo+/hyper-) in the CGM group (P = .033 and P = .033, respectively). FEV1 was significantly lower in hypo + group as a whole, and (hypo+/hyper+) subgroup than in (hypo-/hyper-), (P = .044 and P = .042, respectively); the difference was independent of body mass index-standard deviation score (BMI-SDS) (P = .15 and P = .12, respectively). Conclusion: The frequency of hypoglycemia in children with CF was higher in CGM than that in OGTT. Insulin secretion was delayed and total insulin levels increased in the hypoglycemic patients. Glucose instability/hypoglycemia is associated with poorer lung function in patients with CF, independent of nutritional status.