The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Initial radiologic findings of osteoporosis in Imerslund-Grasbeck syndrome in early adolescence

İmerslund-Grasbeck sendromu (İGS), vitamin B12 eksikliği ve proteinüri ile seyreden iyi prognozlu bir malabsorpsiyon sendromudur. İleri yaşlarda bu hastalarda osteoporoz gelişimi önemli bir sorundur. Bu makalede, kliniğimizde İGS düşündüğ ümüz ve erken adölesans dönemde radyolojik osteoporoz bulgularına rastladığımız bir hastanın tanı süreci sunulmuştur.Imerslund-Grasbeck syndrome (İGS) is a malabsorption syndrome with favorable prognosis where vitamin B12 deficiency and proteinuria is detected. One of the major problems that patients with this disease face in the elderly is osteoporosis. In this case report, we summarize the diagnostic course of a suspected İGS patient presented to our clinic with initial radiologic findings of osteoporosis in early adolescence

The patient presented with vomiting and hypkalemic metabolic alkolosis: Case report

Çocukluk çağında hipokalemik metabolik alkaloz sıklıkla kusmayla mideden kayıplara yol açan nedenler ile, kistik fibrozis, tübulopati veya endokrinopati varlığında görülmektedir. Sıvı tedavisine cevap vermeyen hipokalemisi olan hastalarda hiperaldosteronizm saptandığında, kan basıncı normal veya normalden düşük olarak bulunursa tuz kaybettiren tübulopatilerin araştırılması gerekir. Bu makalede, kliniğimize kusma yakınmasıyla başvuran ve dirençli hipokalemik metabolik alkalozu olan, Gitelman sendromu düşündüğümüz bir hasta sunulmuştur.Gastric losses by vomiting, cystic fibrosis, tubulopathies and endocrinopathies are the major factors associated with childhood hypokalemic metabolic alkalosis. Hypocalemic patients resistant to fluid replacement therapy with suspected hyperaldosteronism and normal/low arterial blood pressure must be carefully evaluated for salt wasting tubulopathies. In this case report, we summarize a patient who presented to our clinic with vomiting and resistant hypokalemic metabolic alkalosis and diagnosed as Gitelman syndrome

Evaluation of the patients who have diagnosed for the first time as acute rheumatic fever with respect to epidemiological, clinical and laboratory findings

Amaç: Akut romatizmal ateş (ARA) tanısı ilk kez konan hastaların epidemiyolojik, klinik ve laboratuar yönünden değerlendirilmesi. Yöntem: Ocak 2000 ile Mayıs 2006 tarih-leri arasında ilk kez ARA tanısı alan 107 hasta retrospektif olarak incelendi. Vakalar, yaş gruplarına, cinsiyetlerine, görüldüğ ü mevsime, majör ve minör kriterlere, destekleyici bulgulara, minör bulguların cinsiyet ve yaş gruplarına dağılımına, minör bulguların sedimantasyonla ilişkisine göre incelendi. Ayrıca artritli vakalar tutulan eklemlerine göre, karditli vakalar kapak lezyonlarının dağılımı- na, karditin klinik derecesine göre değerlendirildi. Bulgular: Hastalarımızın yaş ortalaması 10,6±2,8 yıl olarak tespit edildi. Erkek/kız oranı 2,2 bulundu. Bu oran önceki yayınlara göre daha yüksekti. Hastalarımızın majör bulgulara göre dağılımını incelediğimizde, en çok görülen majör bulgunun artrit olduğu saptandı. İkinci sırada kardit, 3. sırada kore, 4. sırada ise eritema marginatum (EM) yer almaktaydı. Subkutan nodül hiç görülmedi. Yaptığımız çalışmada istatistiksel olarak kız hastalarda erkeklere göre kardit, erkek hastalarda kızlara göre artrit görülme oranı anlamlı derecede yüksekti (p<0.05). Akut faz reaktanları yüksekliği en sık rastladığımız minör bulguydu. Sırasıyla ateş, elektrokardiyoramda (EKG) PR uzaması, artralji gördüğümüz diğer bulgulardı. Geçirilmiş streptokok enfeksiyonuna ait bulgular arasında en sık rastlanılan bulgu “Anti Streptolizin O” (ASO) yüksekliğ iyken, sırasıyla diğer bulgular tonsillit öyküsü ve pozitif boğaz kültürüydü. Eritrosit sedimantasyon hızı (ESR) yüksekliği görülme oranı % 92,5 ve C reaktif protein (CRP) yüksekliği görülme oranı %82’ydi. ESR yüksekliği olan hastalarda, olmayanlara göre kore görülme oranı daha düşüktü (p<0.05). Artritli hastalarda en sık tutulan eklemler sırasıyla ayak bileği, ikinci sıklıkla diz, daha sonra sırasıyla el bileği, kalça, interfalangiyal eklem, dirsek, intertarsal eklem ve omuzdu. Karditli hastalarda kardit ağırlık derecesine göre en sık hafif kardit görülmekteydi. Valvüliti olan hastalarda en sık görülen bulgu izole mitral yetersizliğiydi (MY). Daha sonra sırasıyla MY+AY (aort yetersizliği) ve izole AY gelmekteydi. Sonuçlar: Bulgularımızın bir bölümü önceki araştırmaları n sonuçlarıyla benzer özellikler sergilerken, bazı parametrelerde farklılıklar olduğu görülmektedir. Olgu sayı mızın az olması çelişkili sonuçları açıklayabilir. Bu nedenle hastalığın klinik ve laboratuar özelliklerinin ülkemizde olası farklılıklarını ortaya koymak üzere çok merkezli ve geniş serili araştırmalara gereksinim vardır.Objective: Epidemiological, clinical and laboratory evaluation of patients who have diagnosed as acute rheumatic fever for the first time. Method: 107 patients diagnosed as acute rheumatic fever for the first time, from January 2000 to May 2006 evaluated retrospectively. Cases studied to the relation of age, sex, time of the year, minor, minor and supporting criteria, and relationship of sedimentation with the mi-nor signs. Also cases with arthritis studied according to the affected joint, cases with carditis according to the distribution of the lesions of valves and clinic degree of carditis. Results: Our patients mean age was 10.6&plusmn;2.8 years. Boys/ girls ratio was found as 2.2 which is higher value in compare of the literature. When we evaluated our patients&amp;#8217; distribution of minor signs, the most common minor sign is arthritis, then carditis, corea, erithema margi-natum, respectively. Subcutane nodules have not been seen. In our study, we found that carditis is more common in female patients and arthritis is more common in male patients (p&lt;0.05). High acute phase reactant levels was the most common minor sign, then fever, elongation of P-R interval at the ECG, arthralgia respectively. In the signs of previous strep-tococcal infection the most common one is high levels of ASO, then history of tonsillitis, positive throat culture, respectively. Ratio of high levels of ESR was %92.5, and CRP was % 82. Corea is significantly common in patients with high ESR levels (p&lt;0.05). Patients with arthritis has the most affected joint ankle, knee, wrist, hip, interphalangeal joints, elbow, in-tertarsal joint, shoulder, respectively. Patients with carditis have the mildest carditis, accord-ing to degree of carditis. Patients with valvulitis have mostly, isolated mitral insufficiency, then mitral and aortic insufficiency and isolated aortic insufficiency respectively. Conclusion: The results of our retrospective analysis partially parallel with previous reported data. This contradiction may be due to relatively insufficient number of the patients in our study group. Because of this reason, multi-center studies with large number of patients should be done for investigating probable variations of the disease in our country

Table1_The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.docx

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168.</p

The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals

This study aimed to determine the prevalence of infantile functional gastrointestinal disorders (FGIDs) based on Rome IV diagnostic criteria, and to determine the associated patient demographic and nutritional characteristics. A total of 2383 infants aged 1-12 months which were evaluated by 28 general pediatricians and pediatric gastroenterologists on the same day at nine tertiary care hospitals around Istanbul, Turkey, between November 2017 and March 2018, were included in the study. Patients included consulted the pediatric outpatient clinics because of any complaints, but not for vaccines and/or routine well child follow-ups as this is not part of the activities in the tertiary care hospitals. The patients were diagnosed with FGIDs based on Rome IV diagnostic criteria. The patients were divided into a FGID group and non-FGID group, and anthropometric measurements, physical examination findings, nutritional status, risk factors, and symptoms related to FGIDs were evaluated using questionnaires. Among the 2383 infants included, 837 (35.1%) had >= 1 FGIDs, of which 260 (31%) had already presented to hospital with symptoms of FGIDs and 577 (69%) presented to hospital with other symptoms, but were diagnosed with FGIDs by a pediatrician. Infant colic (19.2%), infant regurgitation (13.4%), and infant dyschezia (9.8%) were the most common FGIDs. One FGID was present in 76%, and >= 2 FGIDs were diagnosed in 24%. The frequency of early supplementary feeding was higher in the infants in the FGID group aged <= 6 months than in the non-FGID group (P = 0.039)