13 research outputs found
Is Cranial Magnetic Resonance Imaging Necessary in Every Patient with Central Precocious Puberty?
INTRODUCTION: Central Precocious Puberty (CPP) is more common in girls and it is usually idiopathic. Although cranial magnetic resonance imaging (MRI) is recommended in patients with CPP that starts before the age of 6 to elucidate the underlying pathology, performing cranial magnetic resonance imaging in patients who are between the ages of 6 and 8 is controversial. In this study, we aimed to evaluate cranial MRI results and the frequency of intracranial lesions in girls who were diagnosed with CPP. METHODS: In the study, 121 female patients with CPP were included. In the review of the medical records of the patients, anthropometric measurements, laboratory findings and cranial MRI findings were evaluated. RESULTS: The mean age of the patients included in the study was found as 7.24 +- 1.04 years. In 7 (5.8%) of the 121 patients, lesions definitely associated with CPP were detected; in 5 (4.1%) patients, lesions possibly associated with CPP were detected and in 12 (9.9%) patients, lesions that did not induce CPP (incidentaloma) were detected. Neurological findings were not present in all of the patients with cranial pathology. All of the patients with intracranial lesions were between the ages of 6 and 8. DISCUSSION AND CONCLUSION: In our study, contrary to many previous studies, the frequency of cranial pathology was found to be high in patients with CPP that started after the age of 6. Therefore, we recommend performing cranial MRI in all girls who are diagnosed with CPP before the age of 8, regardless of the presence of neurological findings
Tip 1 Diyabetes Mellituslu Çocuklarda Tanı Anındaki Klinik ve Laboratuvar Bulgularının Değerlendirilmesi
Objective: The aim of our study is to evaluation of clinical and laboratory findings at the time of diagnosis in children with Type 1 Diabetes Mellitus (T1DM).
Methods: In this study, 142 children diagnosed with T1DM who were referred to Pediatric Endocrinology Policlinic and Emergency Policlinic of Dicle University Medical Faculty between 2013 and 2016 were evaluated. Retrospectively, the sociodemographic characteristics, symptoms and laboratory findings of the patients were recorded from the files. All the data obtained were evaluated statistically.
Results: Sixty two (43.66%) of the patients were girls. The mean age was 10,10 ± 1,39 years. The blood glucose level at diagnosis was 425,85 ± 12,51 mg/dl and HbA1c was 13,57 ± 3,77. Anti-Glutamate Decarboxylase (anti-GAD) positivity was detected in 47.8% of the cases. 18.3% of the patients had a T1DM story in their family. Patients were diagnosed mostly in January (12.6%) and November (11.9%). 83.8% of cases had both polyuria and polydipsia, 41.5% had consciousness level change and 6.3% had coma. Ketoacidosis was present in 43% of the patients at the time of admission, ketosis in 48.5% and only hyperglycemia in 8.5%.
Conclusion: Type 1 DM is mostly observed in adolescence. The most common symptoms of the disease are polyuria and polydipsia. For this reason the community needs to be educated that polyuria and polydipsia may have T1DM findings. Awareness of the community in this issue can reduce the frequency of diabetic ketoacidosis, the most important complication of diabetes
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
INTRODUCTION: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. METHODS: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. RESULTS: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24+-1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03+-17.09 and the verbal score was 82.88+-9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. DISCUSSION AND CONCLUSION: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome
Peer reviewe
Splenectomy in patients with thalassemia major: Evaluation of 35 cases
Amaç: Beta talasemi, b globin sentezinin azalması veya hiç üretilememesi sonucunda oluşan, otozomal resesif geçişli ve yeryüzünde yaygın görülen kalıtsal anemi tipidir. Splenektomi, birçok hematolojik hastalıkta tedavi amaçlı uygulanabilmektedir. Bu çalış- mada, kliniğimizden takipli talasemi major hastalarından splenektomi yapılan hastaların kayıtlı bilgilerinin tartışılması amaçlandı. Yöntemler: Takipli 782 talasemi major hastasının kayıtları geriye dönük olarak tarandı. Bu hastalardan splenektomi yapılmış ve kayıtlı bilgilerine ulaşılabilen 35 hasta çalışmaya dâhil edildi. Hastaların kayıtlı bilgileri, tanı alma yaşları, cinsiyet durumları, operasyon yaşları, operasyon endikasyonları, şelasyon tedavisi, transfüzyon sıklıkları ve ameliyat sonrası klinik yanıt durumları açısından detaylı incelendi. İstatistiksel incelemede SPSS 13.0 İstatistik programı kullanıldı. Bulgular: Hastaların 22si (%63) erkek, 13ü (%37) kız idi. Ortalama tanı alma yaşı 82 ay, splenektomi yaşı 8,5 yıl idi. En önemli splenektomi endikasyonu artmış transfüzyon gereksinimiydi (%57,14). Ameliyat öncesi transfüzyon gereksinimi, 23530 mL/kg/yıl iken; ameliyat sonrası gözlemlerde 11515 mL/kg/yıla kadar gerilemişti. Splenektomi öncesi ortalama serum ferritin düzeyi 1745761 ng/mL, splenektomi sonrası 1985570 ng/mL idi. İzlemlerde hiçbir hastada sepsis veya pıhtılaşma bozukluğu gibi herhangi bir komplikasyon gelişmedi. Sonuç: Talasemi hastalarında splenektomi yakınmaların azaltılması ve transfüyon sıklığının azaltılmasında faydalıdır. Demir şelasyon tedavisinin yetersiz uygulanması ile splenektomiye gidiş zamanı arasında bir korelasyon olabilir.Objective: Beta-thalassemia is common, worldwide, autosomal recessive and inherited type of anemia which results from absent or reduced synthesis of b globin. Splenectomy may be performed for the treatment of many hematologic diseases. The aim of this study is to discuss recorded data of thalassemia major patients who underwent splenectomy. Methods: The records of 782 patients with thalassemia major were reviewed retrospectively. Of these patients, 35 splenectomized patients with available data were included in the study. Recorded data of patients were evaluated as for age at diagnosis, gender, age at splenectomy, surgical indications, chelation therapy, annual transfusion requirements, and postoperative clinical response. Statistical analyses were performed with statistical package of SPSS version 13.0. Results: Twenty-two (63%) male and 13 (37%) female patients were included in the study. Mean age at diagnosis was 8±2 months and splenectomy was 8.5 years. The main indication for splenectomy was increased transfusion requirement (57.14%). The annual transfusion requirement reduced from preoperative 235±30 mL/kg to 115±15 mL/kg postoperatively. Mean serum ferritin levels were 1745±761 ng/mL, and 1985±570 ng/mL before, and after splenectomy. None of the patients developed any complications such as sepsis or coagulation disorder. Conclusion: These results suggest that splenectomy is beneficial to improve the quality of the lives of patients and significantly reducing blood consumption. Inadequate iron chelation therapy may be associated with progression to splenectomy
Splenectomy in patients with thalassemia major: Evaluation of 35 cases
Amaç: Beta talasemi, b globin sentezinin azalması veya hiç üretilememesi sonucunda oluşan, otozomal resesif geçişli ve yeryüzünde yaygın görülen kalıtsal anemi tipidir. Splenektomi, birçok hematolojik hastalıkta tedavi amaçlı uygulanabilmektedir. Bu çalış- mada, kliniğimizden takipli talasemi major hastalarından splenektomi yapılan hastaların kayıtlı bilgilerinin tartışılması amaçlandı. Yöntemler: Takipli 782 talasemi major hastasının kayıtları geriye dönük olarak tarandı. Bu hastalardan splenektomi yapılmış ve kayıtlı bilgilerine ulaşılabilen 35 hasta çalışmaya dâhil edildi. Hastaların kayıtlı bilgileri, tanı alma yaşları, cinsiyet durumları, operasyon yaşları, operasyon endikasyonları, şelasyon tedavisi, transfüzyon sıklıkları ve ameliyat sonrası klinik yanıt durumları açısından detaylı incelendi. İstatistiksel incelemede SPSS 13.0 İstatistik programı kullanıldı. Bulgular: Hastaların 22si (%63) erkek, 13ü (%37) kız idi. Ortalama tanı alma yaşı 82 ay, splenektomi yaşı 8,5 yıl idi. En önemli splenektomi endikasyonu artmış transfüzyon gereksinimiydi (%57,14). Ameliyat öncesi transfüzyon gereksinimi, 23530 mL/kg/yıl iken; ameliyat sonrası gözlemlerde 11515 mL/kg/yıla kadar gerilemişti. Splenektomi öncesi ortalama serum ferritin düzeyi 1745761 ng/mL, splenektomi sonrası 1985570 ng/mL idi. İzlemlerde hiçbir hastada sepsis veya pıhtılaşma bozukluğu gibi herhangi bir komplikasyon gelişmedi. Sonuç: Talasemi hastalarında splenektomi yakınmaların azaltılması ve transfüyon sıklığının azaltılmasında faydalıdır. Demir şelasyon tedavisinin yetersiz uygulanması ile splenektomiye gidiş zamanı arasında bir korelasyon olabilir.Objective: Beta-thalassemia is common, worldwide, autosomal recessive and inherited type of anemia which results from absent or reduced synthesis of b globin. Splenectomy may be performed for the treatment of many hematologic diseases. The aim of this study is to discuss recorded data of thalassemia major patients who underwent splenectomy. Methods: The records of 782 patients with thalassemia major were reviewed retrospectively. Of these patients, 35 splenectomized patients with available data were included in the study. Recorded data of patients were evaluated as for age at diagnosis, gender, age at splenectomy, surgical indications, chelation therapy, annual transfusion requirements, and postoperative clinical response. Statistical analyses were performed with statistical package of SPSS version 13.0. Results: Twenty-two (63%) male and 13 (37%) female patients were included in the study. Mean age at diagnosis was 8±2 months and splenectomy was 8.5 years. The main indication for splenectomy was increased transfusion requirement (57.14%). The annual transfusion requirement reduced from preoperative 235±30 mL/kg to 115±15 mL/kg postoperatively. Mean serum ferritin levels were 1745±761 ng/mL, and 1985±570 ng/mL before, and after splenectomy. None of the patients developed any complications such as sepsis or coagulation disorder. Conclusion: These results suggest that splenectomy is beneficial to improve the quality of the lives of patients and significantly reducing blood consumption. Inadequate iron chelation therapy may be associated with progression to splenectomy
Clinical and laboratory characteristics of patients with congenital hypothyroidism
GİRİŞ: Konjenital hipotiroidi (KH) günümüzde hala çocuklarda önlenebilir mental retardasyonun en sık sebeplerindendir. Bu çalışmada kalıcı ve geçici konjenital hipotiroidili vakaların etyolojileri, laboratuvar bulguları, tedavi dozları ve süreleri karşılaştırılmıştır. GEREÇ ve YÖNTEM: Konjenital hipotiroidi tanısı ile en az 3 yıl takip edilen 106 hasta (42 kız, 64 erkek) çalışmaya alındı. Hastaların dosyaları retrospektrif olarak tarandı. Tanı anında, tedavinin birinci, ikinci ve üçüncü yılında ve tedavi kesildikten 4-6 hafta sonra bakılan TSH, FT4, FT3, boy SDS, kilo SDS ve tedavi dozları not edildi. BULGULAR: Hastaların %41.5’inde kalıcı KH, %58.5’inde ise geçici KH saptandı. Kalıcı hipotiroidilerin en sık sebebi tiroid disgenezileri (%34) iken, geçici KH’li hastalarda en sık sebep dishormonogenezis (%38,7) idi. En sık saptanan semptomlar uzamış sarılık ve kabızlıktı. Hastaların büyük çoğunluğunu tarama testi sonucuyla polikliniğe yönlendirilen (%27.4) ve tarama testi sonucunu beklemeden rutin muayene amaçlı polikliniğimize başvuran (%27.4) hastalar oluşturmaktaydı. Gruplar arasında tanı esnasındaki serum TSH, sT4 ve sT3 seviyeleri açısından anlamlı fark yoktu (sırası ile p=0.955, p=0.532, p=0.23). Geçici KH grubunda tiroglobulin düzeyi anlamlı olarak yüksekti (p=0.026). Takiplerde kalıcı KH’li hastaların FT3 düzeyleri anlamlı ölçüde daha düşük idi. (sırasıyla p=0.003, p=0.017, p=0.032). SONUÇ: Çalışmamızda geçici KH oranının daha yüksek olduğu ve geçiçi KH’lilerin büyük çoğunluğunun dishormonogenezise bağlı olduğu görülmüştür. Tanı anındaki tiroid hormonu seviyelerinin kalıcı ve geçici KH ayırımında belirleyici olmadığı gösterilmiştir. Ancak takiplerde ihtiyaç duyulan ilaç dozunun ve TSH düzeyinin yüksek olması ve FT3 seviyesinin düşük seyretmesi kalıcı KH’yi ayırt etmede kullanılabileceği sonucuna varılmıştır.INTRODUCTION: Congenital hypothyroidism (CH) is still the most common cause of mental retardation. ln this study, etiology, laboratory findings, treatment doses, durations of permanent and transient CH cases were compared. METHODS: 106 patients (42 female, 64 male) who had been treated for CH for at least 3 years were included. Patients’ files were retrospectively scanned. TSH, FT4, FT3, height, weight and treatment doses, findings at the first time of diagnosis, first, second, and third year of treatment and 4-6 weeks after the treatment was ended, were noted. RESULTS: Permanent CH was found in 41.5% of patients and transient CH was found in 58.5% of patients. The most common cause of permanent hypothyroidism was thyroid dysgenesis (34%). dyshormonogenesis (38.7%) was the most frequent cause in patients with transient CH. The most common symptoms were hyperbilirubunemia and constipation. 27 % of the patients were referred to the outcome screening program and 27% of the patients were visited for routine control. Serum TSH, FT4 and FT3 levels at diagnosis were not significantly different between the groups (p = 0.955, p = 0.532, p = 0.23). The level of thyroglobulin was significantly higher in the transient CH group (p =0,026). FT3 levels of patients with permanent CH were significantly lower during follow-up.( p= 0.003, p = 0.017, p = 0.032). CONCLUSION: In our study, it is found that the ratio of transient CH is higher and most of the transient cases were attributed to dyshormonogenesis. It is shown that the thyroid hormone levels at the time of diagnosis is not significantly different in the differential diagnosis of permanent and transient CH. However, it is concluded that the need for higher dose in the treatment during follow up and the higher TSH levels, and the lower fT3 levels can be used in diagnosis of permanent CH
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1
Novel thiourea derivatives against <i>Mycobacterium tuberculosis:</i> synthesis, characterization and molecular docking studies
N-((2-chloropyridin-3-yl)carbamothioyl)thiophene-2-carboxamide (HL1), N-((6-methylpyridin-2-yl)carbamothioyl)thiophene-2-carboxamide (HL2), N-(allylcarbamothioyl)thiophene-2-carboxamide (HL3), 2-chloro-N-(methyl(1-phenylethyl)carbamothioyl)benzamide (HL4) and 2-chloro-N-(bis((R)-1-phenylethyl)carbamothioyl)benzamide (HL5) were synthesized and characterized via FT-IR, 1H-NMR, 13C-NMR and HR-MS techniques and HL3 was characterized via a single crystal X-ray diffraction experiment. The antituberculosis activity of the synthesized thiourea derivatives was tested against the H37RV (ATCC27294), ATCC35822 (INH resistant), ATCC35838 (RIF resistant), ATCC35820 (STM resistant) and ATCC35837 (EMB resistant) standard bacteria strains. The thiourea derivatives were tested on two MDR and one primary drug-sensitive isolates with the microplate nitrate reductase test method. The results indicated that HL2 and HL3 had tuberculosis activity on some of the isolates. It was observed that HL4 was the most effective among all the thiourea derivatives. The interaction mechanism of the synthesized compounds on 2X23, a tuberculosis protein, was investigated via molecular docking method. The interaction was observed to occur over S and Cl atoms in all the compounds. The compounds containing the methyl group were observed to interact via this group.</p