Browsing by Author "Saǧlam, Halil"

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Bilateral multiple pulmonary arteriovenous fistulas and duplicated renal collecting system in a child with Noonan's syndrome
(Cambridge Univ Press, 2006-10-20) Semizel, Evren; Bostan, Özlem Mehtap; Saǧlam, Halil; Uludağ Üniversitesi/Tıp Fakültesi/Kardiyoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0003-0710-5422; AAG-8558-2021; C-7392-2019; 12646191300; 8676936500; 35612700100
Noonan's syndrome involves the association of multiple congenital abnormalities, with a variety of cardiac defects. We describe here the association of Noonan's syndrome with multiple pulmonary arteriovenous fistulas and bilateral duplicated renal collecting systems. To the best of our knowledge, this is the first reported case of an association of the Noonan phenotype with pulmonary arteriovenous fistulas.
Chromhidrosis due to exogenous oxidizing heavy metals: Clinical and laboratory findings
(Wiley, 2018) Erdöl, Şahin; Karakaya, Sabahattin; Saǧlam, Halil; Tarım, Ömer; Uludağ Üniversitesi/Tıp Fakültesi/Metabolizma Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Endokrinoloji Anabilim Dalı.; 0000-0003-4402-9609; 0000-0003-0710-5422; C-7392-2019; 54419947800; 57201519673; 35612700100; 6701427186
Background/ObjectivesChromhidrosis is a rare condition of which there are only a few case reports in the literature. The aim of this study was to evaluate clinical, laboratory, and possible environmental factors in 13 patients with chromhidrosis to elucidate causative agents. MethodsData were obtained from the medical records of 13 patients with colored sweating between October 2015 and November 2016 (7 infants <1year of age, 5 adults, 1 adolescent). ResultsPhysical examination was normal in all patients. Nine of 12 had high calculated serum free copper (75%). Urine glutamine was measured in 13 patients and was high in 11 (84.6%). Ten patients drank natural mineral water from Uludag Mountain, and two were exposed to an intrauterine device containing copper. One patient (8%) was not exposed to Uludag Mountain natural water or an intrauterine device. ConclusionWe propose that chronic exposure to water or devices that contain high amounts of heavy metal and ammonium may contribute to CH.
Clinical course of hyperprolactinemia in children and adolescents: A review of 21 cases
(Galenos Yayıncılık, 2011-06) Eren, Erdal; Yapıcı, Senay; Çakır, Esra Deniz Papatya; Ceylan, Latife Aytekin; Saǧlam, Halil; Tarım, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı; 0000-0003-0710-5422; 0000-0002-1684-1053; C-7392-2019; AAH-1155-2021; AAM-1734-2020; 36113153400; 44161566600; 37003613900; 40461059700; 35612700100; 6701427186
Objective: Hyperprolactinemia may be due to various etiological factors and may present with different signs and symptoms. It is relatively less frequent in childhood than in adulthood. The aim of this study was to evaluate retrospectively the clinical course and outcome of hyperprolactinemia in pediatric patients. Methods: We investigated the records of 21 patients with hyperprolactinemia who attended a tertiary hospital. Results: Menstrual problems, galactorrhea, and headache were the most common presenting symptoms. Hyperprolactinemia was due to microadenoma in 10, macroadenoma in 7, and was drug-induced in 4 patients. Bromocriptine and cabergoline were equally effective in lowering serum prolactin levels. Surgical treatment in children with macroprolactinoma was not curative and dopamine agonist therapy was required postoperatively. Conclusion: In the presence of any clinical symptom or sign suggestive of suppression of the pituitary-gonadal axis, hyperprolactinemia should not be forgotten as a probable diagnosis. Medical therapy seems effective in microadenoma. Surgical therapy may not be successful in macroadenoma and recurrence is frequent.
Delayed puberty and gonadal failure in patients with hax1 mutation
(Springer, 2017-06-12) Görükmez, Orhan; Çekiç, Şükrü; Saǧlam, Halil; Yakut, Tahsin; Tarım, Ömer; Kılıç, Sara Şebnem; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı.; 0000-0002-9574-1842; 0000-0003-0710-5422; 0000-0001-8571-2581; L-1933-2017; C-7392-2019; AAH-1658-2021; 56117061000; 35612700100; 6602802424; 6701427186; 34975059200
Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated. The age of the patients was between 13 and 25 years. All female patients were diagnosed with primary ovarian insufficiency (POI) based on amenorrhea and elevated gonadotropins. The ovary volumes in female patients were determined to be smaller than normal for their age through sonographic studies. Short stature associated with gonadal insufficiency was also observed in three patients. The HAX1 gene is important for ovarian development, in which a p.Trp44X mutation may cause POI in female patients. It is crucial to follow up and evaluate the gonadal functions of female patients in such cases.
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism
(Walter De Gruyter Gmbh, 2014-07) Cangül, Hakan; Schoenmakers, Nadia A.; Saǧlam, Yaman; Kendall, Michaela; Timothy Barrett, Timothy; Chatterjee, Krish; Mäher, Eamonn Richard; Saǧlam, Halil; Doğanlar, Durmuş; Eren, Erdal; Tarım, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı.; 0000-0003-0710-5422; 0000-0002-1684-1053; C-7392-2019; AAH-1155-2021; 35612700100; 56363214600; 36113153400; 6701427186
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and 2% of cases have a familial origin. Our aim in this study was to determine the genetic alterations in two siblings with CH coming from a consanguineous family. As CH is often inherited in an autosomal recessive manner in consanguineous/multi case-families, we first performed genetic linkage studies to all known causative CH loci followed by conventional sequencing of the linked gene. The family showed potential linkage to the TSHR locus and our attempts to amplify and sequence exon 2 of the TSHR gene continuously failed. Subsequent RT-PCR analysis using mRNA and corresponding cDNA showed a large deletion including the exon 2 of the gene. The deletion was homozygous in affected cases whilst heterozygous in carrier parents. Here we conclude that CH in both siblings of this study originates from a large deletion including the exon 2 of the TSHR gene. This study demonstrates that full sequence analysis in a candidate CH gene might not always be enough to detect genetic alterations, and additional analyses such as RT-PCR and MLPA might be necessary to describe putative genetic causes of the disease in some cases. It also underlines the importance of detailed molecular genetic studies in the definitive diagnosis and classification of CH.
Etiological evaluation of adolescents with primary amenorrhea
(Springer, 2013-09-27) Eren, Erdal; Saǧlam, Halil; Çakır, Esra Deniz Papatya; Tarım, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0003-0710-5422; 0000-0002-1684-1053; 0000-0003-4664-7435; C-7392-2019; AAM-1734-2020; GQO-9634-2022; 36113153400; 35612700100; 37003613900; 6701427186
Objectives To determine causes of amenorrhea in adolescents with primary amenorrhea and to emphasize general approach to primary amenorrhea. Methods Thirty-nine patients, evaluated between January 2007 and May 2011, were divided into normogonadotropic hypogonadism, hypergonadotropic hypogonadism and hypogonadotropic hypogonadism groups. Means of age, height, weight, body mass index and standard deviation scores, gonadotropin levels, and accompanying diseases were evaluated. Results Mean values of age, height, height standard deviation score, weight and, weight standard deviation score were 15.54 +/- 1.52 y. 152.0 +/- 1.1 cm, -1.37 +/- 1.3, 48.2 +/- 14.3 kg, 0.96 +/- 1.75, respectively. There were no statistical significances in the auxological parameters. Patients were distributed as 18 cases (46.1 %) with normogonadotropic hypogonadism, 12 cases (30.8 %) with hypergonadotropic hypogonadism, 9 cases (23.1 %) with hypogonadotropic hypogonadism. In the group of normogonadotropic hypogonadism, there were 6 patients with chronic diseases, 5 patients with insulin resistance, 4 patients with prolactinomas, 3 patients with mullerian agenesis. Of the hypergonadotropic hypogonadic patients, 3 were idiopathic primary ovarian failure, 3 were 46, XY disorders of sex development, 2 were Turner syndrome, 2 were ovarian insufficiency due to drug, one was 17 alpha-hydroxylase deficiency and one was autoimmune oophoritis. The group of hypogonadotropic hypogonadism included 5 patients with normosmic hypogonadism, 2 patients with constitutional delay of growth and puberty, 1 patient with panhypopituitarism and 1 patient with anosmic hypogonadism. Conclusions Chronic diseases, prolactinoma, and insulin resistance may lead to hypogonadism without altering gonadotropin levels. Turner syndrome, primary ovarian failure, and autoimmune oophoritis should be investigated in cases with hypergonadotropic hypogonadism. 46, XY disorders of sex development also should be elucidated. Constitutional delay of growth and puberty should be distinguished from isolated hypogonadotropic hypogonadism.
Evaluation of electrocardiographic parameters for early diagnosis of autonomic dysfunction in children and adolescents with type-1 diabetes mellitus
(Wiley, 2014-02-04) Özboyacı, Evren; Uysal, Fahrettin; Bostan, Özlem Mehtap; Saǧlam, Halil; Semizel, Evren; Çil, Ergün; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Kardiyolojisi Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; 0000-0002-6598-8262; AAH-4421-2021; GLN-8241-2022; AAH-3865-2021; AAG-8558-2021; 24469008200; 8676936500; 35612700100; 12646191300; 35587943300
BackgroundThe aim of this study was to identify the sensitivity of electrocardiogram (ECG) in early diagnosis of cardiac autonomic function disorder in children with type 1 diabetes mellitus. MethodsA total of 150 children and adolescents with type 1 diabetes mellitus were enrolled between June 2009 and June 2010, as well as 100 age- and sex-matched healthy control children. Twelve-lead ECG was done in all cases and heart rate, QT and QTc interval, dispersion of P wave (Pd), and of QT (QTd) and QTc interval (QTcd) were measured. The clinical and demographic features such as age, gender, duration of follow up and level of HbA1c and fasting glucose were obtained and the effects of these parameters on ECG measurements were investigated. ResultsThe mean age of the patients and controls was 11.61 3.72 years and 10.92 +/- 3.2 years, respectively. QT and QTc interval and QTcd interval were significantly higher in diabetic children compared to healthy controls but these ECG findings were not associated with the duration of diabetes or glycemic state. Pd was significantly higher in the diabetic patients with HbA1c >7.5% compared to control, and this was also found in patients that were followed up >1 year. ConclusionsCardiac autonomic function disorder, which is one of the most important causes of morbidity and mortality, may emerge in the course of type 1 diabetes mellitus. It can be diagnosed on ECG even when the patients are asymptomatic.
Evaluation of the endocrine functions in pediatric patients with cyanotic congenital heart disease
(Scientific Publishers India, 2013) Eren, Erdal; Çakır, Esra Deniz Papatya; Bostan, Özlem Mehtap; Saǧlam, Halil; Tarım, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Uludağ Üniversitesi/Veterinerlik Fakültesi/Pediatrik Kardiyoloji Anabilim Dalı.; 0000-0003-0710-5422; 0000-0002-1684-1053; 0000-0003-4664-7435; 0000-0002-6598-8262; C-7392-2019; AAG-8558-2021; AAH-1155-2021; AAM-1734-2020; GQO-9634-2022; GLN-8241-2022; 36113153400; 37003613900; 8676936500; 35612700100; 6701427186
Our aim was to investigate effects of chronic hypoxia on endocrine function in pediatric patients with cyanotic congenital heart disease (CHD). Thirty patients with cyanotic CHD (16 boys, 14 girls), and 35 control subjects (22 boys, 13 girls) were enrolled. Age means of patients and controls were 4.37+/-4.51 and 4.28+/-4.96 years, respectively. Standard deviation scores (SDS) of height and weight were significantly lower among patients compared to controls. Mean fasting glucose levels were 75+/-15 mg/dL and 83+/-12 mg/dL among patients and controls, respectively (p=0.033). Insulin-like growth factor (IGF) 1 and its SDS were significantly lower among patients (p=0.010). There was no significant difference in ACTH and cortisol levels between groups. ACTH levels were very low in six patients. Oxygen saturation level was positively correlated with ACTH (p=0.041, r=0.439) and negatively correlated with HOMA-IR (p=0.046, r=-0.420) and insulin (p=0.017, r=-0.494). There was no difference in insulin resistance between groups. Chronic hypoxia has negative impact on growth by reducing IGF-1 along with the nutritional deficiency in children with cyanotic CHD. ACTH-adrenal axis is also affected. While cyanotic CHD has decreased serum glucose level, it had no effect on insulin level and insulin resistance. Negative correlations between oxygen saturation, and HOMA-IR, fasting insulin levels, have suggested that these patients should be monitorized for insulin resistance.
Hormonal side effects of interferon-alpha therapy in children with chronic hepatitis B infection
(AVES, 2007-06) Özkan, Tanju; Saǧlam, Halil; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Gastroenteroloji Anabilim Dalı.; 0000-0003-0710-5422; 0000-0001-5740-9729; C-7392-2019; 7004474005; 35612700100
Hyperprostaglandin E syndrome: Use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis
(Türk Pediatri Dergisi, 2008) Çetinkaya, Merih; Köksal, Nilgün; Özkan, Hilal; Dönmez, Osman; Saǧlam, Halil; Kırıştıoğlu, İrfan; Uludağ Üniversitesi/Tıp Fakültesi/Neonatoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Nefroloji ve Romatoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi Anabilim Dalı.; 0000-0003-0710-5422; C-7392-2019; AAA-8778-2021; 23994946300; 7003323615; 16679325400; 19033971800; 35612700100; 21645753900
Hyperprostaglandin E syndrome (HPS) is the antenatal variant of Bartter syndrome and characterized by polyhydramnios and preterm delivery in the antenatal period and salt-wasting, isosthenuric or hyposthenuric polyuria, hypercalciuria and nephrocalcinosis in the postnatal period. We report a one-month-old infant with HPS with a 15-year-old sister with Bartter syndrome. The infant's birth weight was 2750 g and she had severe dehydration on the 2nd day of life. She had hypercalcemia, hyponatremia, hypokalemia, metabolic alkalosis and elevated plasma renin and aldosterone levels. We instituted indomethacin therapy accompanied by steroid therapy for hypercalcermia. However, the patient developed abdominal distention on the 30th day, which was due to diffuse pneumatosis in sigmoid colon revealed by a subsequent surgical intervention. Following surgery, the patient developed fever, electrolyte abnormalities and subsequently sepsis. The patient died due to sepsis 10 days after surgery. We conclude that indomethacin and steroid therapy must be used cautiously in infants with HPS.
Reference values for neonatal thyroid volumes in a moderately iodine-deficient area
(Springer, 2008-07) Köksal, Nilgün; Aktürk, Berna; Saǧlam, Halil; Yazıcı, Zeynep; Çetinkaya, Merih; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Alerji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Neonatoloji Anabilim Dalı.; 0000-0003-0710-5422; AAG-8393-2021; C-7392-2019; AAI-2303-2021; 7003323615; 25627499700; 35612700100; 6701668723; 23994946300
Background: The reference ranges of thyroid volumes in neonates vary according to the iodine status of a specific region. In different studies, it ranged between 0.47 and 1.62 ml. It has been previously shown that Bursa city was a moderately iodine-deficient area. We therefore aimed at determining normal reference ranges of neonatal thyroid volumes in our moderately iodine-deficient area. Methods: In this cross-sectional study, thyroid volumes of 100 healthy fullterm neonates (51 boys and 49 girls; mean gestational age 38.9 +/- 1.1 weeks; and mean birth-weight 3370 +/- 446 g) were measured during the first week of life using thyroid ultrasonography. These data were compared with the gestational age, birth weight, gender, and TSH values of neonates as well as with maternal factors such as gestational diabetes, preeclampsia, smoking, medication use, and heart disease. Results: All blood samples for TSH were taken during the first 5 days (mean 1.09 +/- 0.9 days). The mean TSH levels in all male and female neonates were 3.77 +/- 3.71, 4.57 +/- 3.61, and 2.93 +/- 3.66 mlU/I, respectively. This difference was statistically significant (p=0.006). Mean thyroid volumes for all male and female neonates were calculated as 0.82 +/- 0.18 (range 0.51-2.04), 0.84 +/- 0.21 (range 0.51-2.04), and 0.80 +/- 0.14 ml (range 0.58-1.30), respectively. There were no statistically significant differences in thyroid volumes with respect to gestational age, birth weight, gender, TSH values of neonates and maternal factors. Conclusion: Normal thyroid volumes in neonates vary between different regions. Local reference values should be used in thyroid volume assessment. Our results are in concordance with the literature and can be used as reference values for our region.
Resolution of autoimmune oophoritis after thymectomy in a myasthenia gravis patient
(Galenos Yayıncılık, 2011-12) Çakır, Esra Deniz Papatya; Özdemir, Özlem; Eren, Erdal; Saǧlam, Halil; Okan, Mehmet Sait; Tarım, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Nöroloji Anabilim Dalı.; 0000-0002-1684-1053; 0000-0003-0710-5422; AAM-1734-2020; C-7392-2019; AAH-1155-2021; 57217886648; 26647804400; 36113153400; 35612700100; 6701707256; 54685136100
Myasthenia gravis (MG) is an autoimmune disorder characterized by autoantibodies against acetylcholine receptors. MG is generally an isolated disorder but may occur concomitantly with other autoimmune diseases. We describe an eighteen-year-old girl with MG who was admitted to our clinic with secondary amenorrhea and diagnosed as autoimmune oophoritis. Since her myasthenic symptoms did not resolve with anticholinesterase therapy, thymectomy was performed. After thymectomy, her menses have been regular without any hormonal replacement therapy. To our knowledge, this is the first report on a patient with autoimmune ovarian insufficiency and MG in whom premature ovarian insufficiency resolved after thymectomy, without hormonal therapy.
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community
(Wiley, 2013-08) Cangül, Hakan; Aycan, Zehra; Nappa, Alvaro Olivera; Schoenmakers, Nadia A.; Boelaert, Kristien; Çetinkaya, Semra Çaǧlar; Böber, Ece; Darendeliler, Feyza F.; Baş, Veysel Nijat; Demir, Korcan; Saǧlam, Halil; Tarım, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; 0000-0003-0710-5422; C-7392-2019; 35612700100; 6701427186
Objective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). Context Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease. Design As TDH is mostly inherited in an autosomal recessive manner, we planned to conduct the study in consanguineous/multi-case families. Patients One hundred and four patients with congenital TDH all coming from consanguineous and/or multi-case families. Measurements Initially, we performed potential linkage analysis of cases to all seven causative-TDH loci as well as direct sequencing of the TPO gene in cases we could not exclude linkage to this locus. In addition, in silico analyses of novel missense mutations were carried out. Results TPO had the highest potential for linkage and we identified 21 TPO mutations in 28 TDH cases showing potential linkage to this locus. Four of 10 distinct TPO mutations detected in this study were novel (A5T, Y55X, E596X, D633N). Conclusions This study underlines the importance of molecular genetic studies in diagnosis, classification and prognosis of CH and proposes a comprehensive mutation screening by new sequencing technology in all newly diagnosed primary CH cases.
Time-dependent alterations in growth and bone health parameters evaluated at different posttreatment periods in pediatric oncology patients
(Taylor & Francis, 2011-10) Demirkaya, Metin; Sevinir, Betül Berrin; Saǧlam, Halil; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0003-0710-5422; AAH-1570-2021; C-7392-2019; 24331130000; 6603199915; 35612700100
Bone mineral density (BMD) and anthropometric measurements in pediatric cancer patients were evaluated and compared at early and late posttreatment periods. Sixty-six pediatric cancer patients who recovered completely following treatment longer than at least a 6-month period were included in the study. Patients were evaluated cross-sectionally and prospectively with regard to anthropometric measurements and BMD twice; the first being at a mean period of 2.62 +/- 1.44 years and the second of 6.55 +/- 1.71 years after the completion of treatment. Rates of osteoporosis and osteopenia at first or second evaluation were 25.8% and 39.4% or 10.6% and 19.7%, respectively. Mean BMD z-scores were (-1.26) +/- 1.12 [(-4.3)-2.0] and (-0.48) +/- 1.25 [(-3.30)-3.40] at first and second evaluations, respectively. BMD findings obtained at second evaluation revealed statistically significant recovery compared with those obtained at first evaluation (P = .001). BMD z-scores were significantly lower in patients who received, as opposed to those who did not receive, radiotherapy (RT) at both evaluations. Anthropometric parameters of patients such as height, weight, and body mass index (BMI) were increased at both evaluations compared with values obtained at diagnosis (P < .05). Height standard deviation score (SDS) decreased at first evaluation compared with that measured at diagnosis, whereas it increased at second evaluation. Conversely, weight SDS and BMI SDS increased (P < .05) at first evaluation compared with that measured at diagnosis, whereas they decreased at second evaluation. The authors conclude that early impairments in anthropometric measurements recover in the long term, whereas BMD is continually reduced in children who recovered from cancer.