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Retrospective evaluation of the frequency of nephropathy in children with type 1 diabetes mellitus
No full textGiriş ve Amaç: Bu çalışmada Tip 1 Diyabetes Mellitus (T1DM) ile takip edilen çocuk ve adölesan hastalardaki nefropati sıklığının belirlenmesi amaçlanmıştır. Gereç ve Yöntemler: Bu çalışmada 01 Ocak 2017 - 01 Aralık 2022 tarihleri arasında Dicle Üniversitesi Tıp Fakültesi Çocuk Endokrinolojisi Polikliniğinde T1DM tanısı alan ve düzenli kontrollere gelen çocuk ve adölesan olgulardan çalışmaya dâhil edilen 131 olgu retrospektif olarak incelendi.. Bulgular: Çalışmaya 66'sı kız (%50,4), 65'i erkek (%49,6) toplam 131 olgu alındı. Mikroalbüminüri tespit edilen olgular grup 1 (69 olgu (%52,7)), mikroalbüminüri olmayan olgular ise grup 2 (62 olgu (% 47,3)) olarak sınıflandırıldı. Grup 1 ve 2'de yer alan olguların ortalama tanı yaşı sırasıyla 8,62±2,32 ve 9,35±3,75 olarak hesaplandı ve her 2 grup arasında anlamlı fark saptanmadı (p=0,71). Olguların ortalama takip süresi grup 1'de 5,94±1,86 yıl iken, grup 2'de 4,93±2,72 olarak bulundu ve aradaki fark istatistiksel olarak anlamlı saptandı (p0,05). Grup 1 ve 2'de sırasıyla olguların ortalama sistolik kan basıncı (KB) 113,40 ± 17,43 ve 102,68 ± 11,53 mmHg olarak saptandı ve grup 2'ye göre grup 1'de istatistiksel olarak anlamlı ölçüde yüksek saptandı (p= 0,025). Grup 1 ve 2'de sırasıyla olguların diyastolik KB 67,86 ± 9,17 ve 66,75 ± 8,88 mmHg saptandı ve aradaki fark anlamlı değildi (p=0,66). Grup 1 olgularında 24 saatlik idrarda ortanca total protein miktarı 140(96-205) mg/gün iken, grup 2'de 21(14,75-26,55) mg/gün şeklinde ölçüldü. Grup 1'de istatistiksel olarak anlamlı yüksek bulundu (p=0.05). Proteinüri ile tanı yaşı, ortalama HbA1c düzeyi, total kolesterol düzeyi, trigliserid düzeyi, HDL düzeyi, LDL düzeyi, GFR, spot idrarda albümin/kreatin oranı (ACR) ve diastolik KB değerleri arasında yapılan Pearson kolerasyon analizinde istatiksel olarak anlamlı fark saptanmadı (p0.05). The mean systolic blood pressure was 113.40±17.43 mmHg for Group 1 and 102.68±11.53 mmHg for Group 2, with Group 1 showing a statistically significant higher value compared to Group 2 (p=0.025). The mean diastolic blood pressure for Group 1 and Group 2 was 67.86±9.17 mmHg and 66.75±8.88 mmHg, respectively, with no significant difference between the two groups (p=0.66). The median total protein in 24-hour urine was 140 (96-205) mg/day for Group 1 and 21 (14.75-26.55) mg/day for Group 2. Group 1 had a significantly higher value (p=0.05). Pearson correlation analysis between proteinuria and age of diagnosis, mean HbA1c level, total cholesterol level, triglyceride level, HDL level, LDL level, GFR, spot urine albumin/creatinine ratio, and diastolic blood pressure did not reveal any statistically significant differences (p<0.05). It was observed that proteinuria showed a negative correlation with T1DM follow-up duration (r= -0.351, p=<0.001) and a positive correlation with systolic blood pressure (r=-0.268, p=0.025). Conclusion: In conclusion, diabetes has been increasing in recent years and has become a significant problem in childhood. If not properly monitored and treated, it can lead to life-threatening and quality of life-reducing complications, particularly diabetic nephropathy (DN), in later years. Our study has shown that the frequency of DN increases with longer duration of diabetes and higher systolic blood pressure. Although there was no significant difference in average HbA1C levels between the group with proteinuria and the group without proteinuria, it was higher in the proteinuric patient group. Therefore, achieving good glycemic control and regularly monitoring blood pressure and proteinuria are of great importance in preventing chronic complications of diabetes, especially DN. When necessary precautions are taken and regular screenings are conducted, end-stage renal failure caused by DN can be prevented
Accompanying extrathyroidal anomalies in patients with congenital hypothyroidism
No full textGiriş-Amaç: Konjenital hipotiroidizm (KH), tiroid bezi gelişiminin tamamlanmamış olması veya tiroid hormonu üretiminin yetersiz olması nedeniyle gelişen tiroid hormonu eksikliği hastalığıdır. Tiroid hormonu nörogelişim için kritik öneme sahiptir; çocuklarda önlenebilir zeka geriliğinin önde gelen nedeni olarak kabul edilmektedir. Bu çalışmada KH nedeniyle takip edilen hastaların eşlik eden ek konjenital anomaliler açısından değerlendirilmesi amaçlanmıştır. Materyal-Metod: Çalışmaya 2016-2023 yılları arasında Dicle Üniversitesi Tıp Fakültesi Hastanesi'nde takip edilen toplam 265 KH olan hasta alındı. Hastaların dosya kayıtlarından sosyodemografik özellikler, tiroid ultrasonografi sonuçları, tiroid fonksiyon testleri (TSH, Serbest T4), batın ultrasonografi sonuçları, ekokardiyografi sonuçları ve ek anomali varlığı retrospektif olarak incelenmiştir. Bulgular: Çalışmaya alınan toplam 265 olgunun 106'sı (%40) kız, 159'u (%60) erkekti. Çalışmaya dahil edilen 265 hastanın 77'sinde (%29,1) tiroid dışı ek konjenital anomali tespit edilirken, 188'inde (%70.9) ek konjenital anomali tespit edilmedi. Çalışmada ek anomali saptanan 77 hastanın 52'sinde(%67,5) kardiyovasküler sistem anomalisi, 23'ünde (%29,9) ürogenital sistem anomalisi, 14'ünde (%18,2) gastrointestinal sistem anomalisi, 2'sinde (%2,6) kas ve iskelet sistem anomalisi tespit edildi. Ayrıca sınıflandırılmayan diğer sistem anomalisi olan 6 (%7,8) hasta tespit edildi. Çalışmaya alınan 265 hastanın 22'sinde (%8,3) tiroid disgenezisi, 243'ünde (% 91,7) dishormonogenezis mevcut idi. Tiroid disgenezisi ile dishormonogenezisi olan olgular tiroid dışı ek anomali sıklığı açısından karşılaştırıldı. Bakılan tüm sistemlere ait anomalilerin her iki grup için farklı olmadığı tespit edildi (p<0.05). Ek anomali eşlik eden KH hastaları ile ek anomali eşlik etmeyen KH hastalarının tanı anında bakılan tiroid fonksiyon testlerinin karşılaştırıldı ve aradaki fark istatistiksel olarak anlamlı bulunmadı. Sonuçlar: Çalışmamızda konjenital primer hipotiroidi hastalarının %29,1'inde ilişkili ekstratiroidal malformasyonlar saptandı. En sık eşlik eden ek sistem anomalileri sırasıyla kardiyovasküler, genitoüriner ve gastrointestinal sisteme aitti. Bizim sonuçlarımız, literatürde daha önce yapılmış çalışmaların genel popülasyonla karşılaştırıldığında KH'li hastalarda ekstratiroidal defektlerin daha yüksek oranda ortaya çıktığını gösteren sonuçlarıyla tutarlı idi. Konjenital hipotiroidi hastalarının ek sistem anomalileri açısından taranması, kardiyolojik muayene, ekokardiyografi ve batın ultrasonografi bakılmasının hastaların prognozu iyileştirilmesi açısından önem arz ettiğini düşünmekteyiz. Bu nedenle disgenezi veya dishormonogenezisi olan her KH hastasını ek anomali açısından taranması gerektiği kanısındayız.Introduction - Aim: Congenital hypothyroidism (CH) is a thyroid hormone deficiency that develops due to incomplete development of the thyroid gland or inadequate production of thyroid hormones. Thyroid hormones are critical for neurodevelopment; CH is considered to be the leading cause of preventable mental retardation in children. In this study, it was aimed to evaluate patients, who were followed up for CH, in terms of additional congenital anomalies. Materials and Methods: In the study, a total of 265 patients with CH, who were followed up in the Dicle University Faculty of Medicine Hospital between 2016 and 2023, were included. Sociodemographic characteristics, the results of thyroid ultrasonography, thyroid function tests (TSH, Free T4), abdominal ultrasonography and echocardiography, and information regarding the presence of additional anomalies were obtained from the medical records of the patients and examined retrospectively. Findings: Among the 265 patients included in the study, 106 (40%) were female and 159 (60%) were male. Additional extra-thyroidal congenital malformations were detected in 77 (29.1%) of the 265 patients, while no additional congenital anomalies were found in 188 (70.9%) patients. In the study, it was found that 52 (67.5%) of the 77 patients with detected additional anomalies had cardiovascular system anomalies, 23 (29.9%) had urogenital system anomalies, 14 (18.2%) had gastrointestinal system anomalies and 2 (2.6%) had muscular and skeletal system anomalies. In addition, 6 (7.8%) patients were found to have other system anomalies that were unclassified. Thyroid dysgenesis was present in 22 (8.3%) of the 265 patients included in the study and dyshormonogenesis was present in 243 (91.7%) patients. Patients with thyroid dysgenesis and dyshormonogenesis were compared in terms of the frequency of additional extra-thyroidal malformations. It was determined that there was no significant difference between the groups in terms of anomalies in all examined systems (p <0.05). Patients with CH who had and did not have additional anomalies were compared in terms of thyroid function test results at the time of diagnosis, and the difference was not found to be statistically significant. Conclusion: In our study, associated extra-thyroidal malformations were detected in 29.1% of the patients with congenital primary hypothyroidism. The most common accompanying system anomalies were found to be anomalies of the cardiovascular, genitourinary and gastrointestinal systems, respectively. Our results were consistent with the results of previously conducted studies in the literature, which had shown that extra-thyroidal defects occurred at a higher rate in patients with CH compared to the general population. We believe that screening patients with congenital hypothyroidism for additional system anomalies and performing cardiological examination, echocardiography and abdominal ultrasonography are important to improve the prognosis of the patients. Therefore, we believe that every patient with CH, in whom dysgenesis or dyshormonogenesis is present, should be screened for additional anomalies
Retrospective evaluation of TYPE 1 diabetes and celiac combination in children
No full textGiriş: Tip 1 diyabetes mellituslu (T1DM) hastalarda normal popülasyona göre diğer otoimmün hastalıklarda artış olduğu gibi çoliyak hastalığı (ÇH) sıklığı da artmıştır. Genel popülasyonda ÇH prevalansının %0,3 ile %1 arasında olduğu tahmin edilmektedir. Ancak T1DM'li hastalarda ortak genetik yatkınlık nedeniyle ÇH prevalansının çocuk ve ergenlerde % 1 ile % 10 arasında değiştiği rapor edilmiştir. Bu çalışmada hastanemizde T1DM tanısı alan ve düzenli takip edilen hastalarda, tanı anında ve takiplerinde ÇH gelişme sıklığının belirlenmesi, ÇH'nın T1DM'li olgularda büyüme ve metabolik kontrol üzerine olan etkisinin değerlendirilmesi amaçlanmıştır. Metodlar: Çalışmaya Ocak 2013-Eylül 2021 tarihleri arasında T1DM tanısıyla izlenen, yaşları 1-18 yaş arası değişen toplam 424 hasta alındı. Bu 424 hastadan çölyak serolojisi çalışılmış 338 hastanın verileri retrospektif olarak değerlendirildi. Hastaların başvuru yaşı, cinsiyeti, izlem süresince ortalama glikozillenmiş hemoglobin (HbA1C) düzeyleri kaydedildi. Hastaların hem T1DM tanı esnasında hem de en son başvurudaki vücut ağırlığı (VA) standart deviasyon skoru (SDS), boy ve beden kütle indeksi (BKİ) SDS skorları hesaplandı. Anti doku transglutaminaz IgA (anti-DTG IgA) düzeyi bakılan ve pozitif saptanan hastaların biyopsi sonuçları kaydedildi. Ayrıca anti-DTG IgA düzeyi kendiliğinden düzelen olgular da kaydedildi. Çalışmadaki hastalardan tiroid otoantikorları bakılıp bakılmadığı kontrol edildi. Bulgular: Çalışmaya alınan 424 olgunun 222'i (%52,4) erkek, 202'i (%47,6) kız olup, hastaların çalışma anındaki mevcut yaş ortalaması 13,99 ± 4,9 yıl idi. Hastaların ortalama T1DM tanı yaşı 9,33 ± 4,39 yıl ve ortalama DM süresi ise 4,63 ± 3 yıl idi. Çalışmadaki hastaların %19,3'ü 5 yaşın altında iken, %80,7'si ise 5 yaşın üzerinde idi. Anti-DTG IgA düzeyi bakılan 338 hastanın 288'inde (%85,2) çölyak serolojisi negatif iken, 50'sinde (%14,8) çölyak serolojisi pozitif saptandı. Otoantikor pozitifliği saptanan 50 hastanın 22'sinde (%44) ortalama 22,7 (4-65) ayda kendiliğinden düzelme olduğu görüldü. Geriye kalan 28 hastanın 15'ine (%53,6) ince bağırsak biyopsisi yapıldı ve 14'ünde ÇH ile uyumlu bulgular saptandı. Çölyak antikor düzeyi bakılan 338 hastanın 14'ünde (%4,1) biyopsi ile kanıtlanmış çölyak hastalığı (BKÇH) tanısı konuldu. Çalışmada BKÇH tanısı konulan 14 hastanın 8'i (%57,1) erkek iken, 6'sı (%42,9) kız idi. Çalışmada çölyak serolojisi pozitif saptanan hastaların %68'i T1DM tanı esnasında, %30'u T1DM tanı yaşından sonraki ilk 5 yıl içinde, %2'si DM tanı yaşından 9,3 yıl sonra serolojik pozitiflik saptandı. Çalışmada çölyak negatif olan grup ile BKÇH olan grubun hem DM tanı esnasındaki hem de son başvurudaki VA, boy, BKİ SDS skorları arasında anlamlı fark saptanmadı. Her iki grup arasında ortalama HbA1c düzeyleri farklı değildi. BKÇH olan grubun hem tanıdaki hem de son başvurudaki VA, boy ve BKİ SDS skorları arasında anlamlı fark saptanmadı. Tip 1 DM'li hastalarda DM tanı yaşı, cinsiyet ve Hashimoto varlığı ile ÇH arasında anlamlı ilişki saptanmadı. Sonuç olarak; çalışmamızda T1DM'li hastalarımızın % 15,8'inde serolojik çölyak pozitifliği saptanırken, BKÇH sıklığı % 4,1 olarak tespit edilmiştir. Çölyak antikor pozitifliği tespit edilen hastaların %68'i T1DM tanı esnasında, %98'i T1DM tanı yaşından sonraki ilk 5 yıl içinde saptandı. Tip 1 DM'li hastalarda Hashimoto tiroiditinin varlığı veya T1DM tanı yaşının küçük olması (<5 yaş) ÇH riski ile ilişkili bulunmadı. Çölyak hastalığı olan grup ile olmayan grubların antropometrik ölçümleri ve ortalama HbA1c düzeyleri farklı değildi. Çölyak antikor pozitifliği saptanan olguların % 44'ü yaklaşık 2 yıl içinde glütensiz diyete rağmen kendiliğinden normale geldiği tespit edildi. Bu nedenle her çölyak antikor pozitifliği saptanan ve özellikle asemptomatik olan hastalara acil duedonal biyopsi veya glutensiz diyet tedavisi verilmesi yerine serolojik takip yapılmasını önermekteyiz.Introduction: In patients with type 1 diabetes mellitus (T1DM), the frequency of celiac disease (CD) has increased, as is the increase in other autoimmune diseases compared to the normal population. The prevalence of CD in the general population is estimated to be between 0.3% and 1%. However, it has been reported that the prevalence of CD varies between 1% and 10% in children and adolescents due to a common genetic predisposition in patients with T1DM. In this study, it was aimed to determine the frequency of CD development at the time of diagnosis and during follow-up, and to evaluate the effect of CD on growth and metabolic control in patients with T1DM who were diagnosed with T1DM in our hospital and were followed up regularly. Methods: A total of 424 patients aged 1-18 years who were followed up with the diagnosis of T1DM between January 2013 and September 2021 were included in the study. Of these 424 patients, the data of 338 patients whose celiac serology was studied were evaluated retrospectively. Age, gender, and mean HbA1c levels of the patients were recorded during the follow-up period. Body weight (VA) standard deviation score (SDS), height and body mass index (BMI) SDS scores of the patients were calculated both at the time of diagnosis of T1DM and at the last admission. The biopsy results of the patients whose anti-tissue transglutaminase IgA (anti-DTG IgA) levels were checked and positive were recorded. In addition, cases whose anti-DTG IgA levels improved spontaneously were also recorded. It was checked whether thyroid autoantibodies were checked in the patients in the study. Results: Of the 424 patients included in the study, 222 (52.4%) were male and 202 (47.6%) were female, and the mean age of the patients at the time of the study was 13.99 ± 4.9 years. The mean age at diagnosis of T1DM was 9.33 ± 4.39 years and the mean duration of DM was 4.63 ± 3 years. While 19.3% of the patients in the study were under the age of 5, 80.7% were over the age of 5. Celiac serology was negative in 288 (85.2%) of 338 patients whose anti-DTG IgA levels were measured, while celiac serology was positive in 50 (14.8%) of them. Spontaneous recovery was observed in 22 (44%) of 50 patients with positive autoantibody positivity, in an average of 22.7 (4-65) months. Small intestinal biopsy was performed in 15 (53.6%) of the remaining 28 patients, and findings consistent with CD were found in 14 of them. A diagnosis of biopsy-proven celiac disease (BPCD) was made in 14 (4.1%) of 338 patients whose celiac antibody levels were measured. In the study, 8 (57.1%) of 14 patients diagnosed with BPCD were male, while 6 (42.9%) were female. In the study, serological positivity was found in 68% of the patients with positive celiac serology at the time of diagnosis of T1DM, 30% within the first 5 years after the age of diagnosis of T1DM, and 2% after 9.3 years after the age of diagnosis of DM. In the study, no significant difference was found between the celiac-negative group and the group with BPCD, both at the time of diagnosis of DM and at the last admission in terms of VA, height, and BMI SDS scores. Mean HbA1c levels were not different between the two groups. There was no significant difference between the VA, height and BMI SDS scores of the group with BPCD both at diagnosis and at the last admission. In patients with T1DM, no significant correlation was found between the age at diagnosis of DM, gender, the presence of Hashimoto's and CD. As a result; In our study, serological celiac positivity was detected in 15.8% of our patients with T1DM, while the frequency of BPCD was determined as 4.1%. Of the patients with celiac antibody positivity, 68% were detected at the time of diagnosis of T1DM, and 98% within the first 5 years after the diagnosis age of T1DM. The presence of Hashimoto's thyroiditis or the small age at diagnosis of T1DM (<5 years) in patients with type 1 DM were not found to be associated with CD risk. Anthropometric measurements and mean HbA1c levels of the groups with and without celiac disease were not different. It was found that 44% of the cases with celiac antibody positivity returned to normal spontaneously in about 2 years, despite the gluten-free diet. For this reason, we recommend serological follow-up instead of immediate duodenal biopsy or gluten-free diet therapy for all patients with celiac antibody positivity, especially those who are asymptomatic
Retrospective evaluation of cases diagnosed with central puberty precocious reaching final height
No full textFinal Boya Ulaşan Santral Puberte Prekoks Tanılı Olguların Retrospektif Olarak Değerlendirilmesi Giriş ve Amaç: GnRHa ile tedavi edilen ve tedavileri biten olgularımızın ulaşmış oldukları final boyu saptamak, tedavinin vücut ağırlığı ve vücut kitle indeksi üzerine etkisinin incelenmesi ve final boy ile ilişkili faktörleri tespit etmeyi amaçladık. Gereç ve yöntem: Hastanemizde 01.01.2011 ve 01.12.2022 tarihleri arasında SPP tanısı konulup, GnRHa ile tedavi edilen ve tedavileri biten olgular çalışmaya alındı. Çalışmaya dahil edilen vakaların dosya kayıtlarından, başvuru yaşı, kemik yaşı, şikayetlerin başlangıç zamanı, vücut ağırlığı (VA), VA standart deviasyon skoru (SDS), boy, boy SDS, VKİ, VKİ SDS, hedef boy, hedef boy SDS, fizik muayenedeki puberte evreleri, laboratuvar sonuçları ( bazal LH, FSH, ve E2), menarş yaşı, pelvik USG bulguları, hipofiz ve beyin MR görüntüleme raporları, tedavi başlangıç yaşı, tedavi sonundaki antropometrik ve laboratuvar bulguları kayıt edildi. Bulgular: SPP tanısıyla GnRHa ile tedavi edilen 67 kız hastanın başvuru anındaki ortalama yaşı 7.5±0.60 yıl (min-max: 7,05-7,65) idi. Olguların başvurudaki VKİ SDS değerlerine göre değerlendirildiğinde; 3 (%5) olgunun obez, 13 (%19) olgunun fazla kilolu olduğu gösterilmiştir. Olguların başvuru esnasındaki VKİ SDS'si 0,13±1,13 iken, tedavi bitiminde bakılan VKİ SDS değeri 0,04±1,21 olarak saptandı ve aradaki fark anlamlı tespit edilmedi (p:0,47). Ortalama menarş yaşı 11.57±0.78 yıl idi. GnRHa tedavisi bittikten 20,3± 10 ay sonra menarş oldukları tespit edildi. Kraniyal görüntüleme sonuçları değerlendirildiğinde; 62 (%92,5) olguda altta yatan neden bulunmaz iken, 5 (%7.5) olguda organik patoloji saptandı Çalışmamızda organik patoloji saptanan olgular 6-8 yaş aralığında idi. Çalışmamızda GnRHa tedavisi verilen 67 hastanın 24 (% 35,8)'ünün hedef boyu geçtiği, 39 (% 58,2)'unun hedef boya ulaştığı tespit edilirken, sadece 4 (%6) olgunun hedef boyun altında kaldığı gösterilmiştir. Hedef boyu geçen olguların başvurudaki boy SDS ortalaması ve PAH'ı daha iyi idi. Delta boy SDS'yi etkileyen faktörler multiple lineer regresyon analizi ile değerlendirildi. Hedef boy SDS'sinin delta boy SDS üzerinde pozitif etki gösterdiği, KY/TY oranının ise negatif etki gösterdiği tespit edildi. Sonuç: Çalışmamızda GnRHa tedavisinin VKİ SDS üzerinde olumsuz etkisi olmadığı sonucuna varıldı. Başvurudaki boy SDS ve PAH'ın iyi olması daha iyi final boy ile ilişkili olabileceğini göstermektedir. 8 yaşından önce SPP tanısı konulan tüm kız çocuklarına GnRHa tedavisi verilmesinin ciddi yan etkilere yol açmadığı ve final boyu iyileştirdiği görülmüştür.Retrospective evaluation of cases diagnosed with central puberty precocious reaching final height Introduction and Purpose: The aim of this study was to determine the final height achieved by our patients who were treated with GnRHa and whose treatment had ended, to investigate the effect of treatment on body weight and body mass index, and to identify factors related to final height. Materials and Methods: Patients who were diagnosed with CPP, treated with GnRHa, and whose treatment ended between 01.01.2011 and 01.12.2022 at our hospital were included in the study. Data on age at presentation, bone age, onset of symptoms, body weight (BW), BW standard deviation score (SDS), height, height SDS, BMI, BMI SDS, target height, target height SDS, pubertal stages during physical examination, laboratory results (basal LH, FSH, and E2), age at menarche, pelvic ultrasound findings, pituitary and brain MRI reports, age at the start of treatment, and anthropometric and laboratory findings at the end of treatment were recorded from the medical records of the cases included in the study. Results: The mean age at presentation of the 67 female patients treated with GnRHa for CPP was 7.5±0.60 years (min-max: 7.05-7.65). When evaluated according to the SDS values of the patients' BMI at presentation, it was shown that 3 (5%) patients were obese and 13 (19%) were overweight. The BMI SDS at presentation was 0.13±1.13, while the BMI SDS value examined at the end of treatment was found to be 0.04±1.21, and the difference between them was not significant (p:0.47). The mean age at menarche was 11.57±0.78 years. Menarche was found to occur 20.3±10 months after the end of GnRHa treatment. When cranial imaging results were evaluated, no underlying cause was found in 62 (92.5%) cases, while organic pathology was detected in 5 (7.5%) cases. The cases with organic pathology in our study were between 6-8 years of age. In our study, it was determined that 24 (35.8%) of the 67 patients who received GnRHa treatment exceeded their target height, 39 (58.2%) reached their target height, and only 4 (6%) patients remained below their target height. Multiple linear regression analysis was used to evaluate the factors affecting delta height SDS. It was determined that target height SDS had a positive effect on delta height SDS, while the KY/TY ratio had a negative effect. Conclusion: Our study concluded that GnRHa treatment had no negative effect on BMI SDS. Good height SDS and PAH at presentation were associated with a greater likelihood of exceeding target height. Factors affecting delta height SDS were identified using multiple linear regression analysis. Target height SDS had a positive effect on delta height SDS, while the KY/TY ratio had a negative effect
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis
No full textContext Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. Objective To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9. Methods We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing. Results We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray. Conclusion 46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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