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

İnek sütü proteini allerjisinden kaynaklanan hemorajik gastrit

İnek s&uuml;t&uuml; proteini allerjisi bebeklik d&ouml;neminde sıklıkla g&ouml;r&uuml;l&uuml;r. İnek s&uuml;t&uuml; proteini allerjisinde y&uuml;zeysel gastritten hemorajik gastrite kadar &ccedil;ok farklı histopatolojik tutulum olabilir. İnek s&uuml;t&uuml; allerjili &ccedil;ocuklarda, inat&ccedil;ı kusma ve hematemez durumunda hemorajik gastritten ş&uuml;phelenilmelidir. Endoskopi ve biyopsi tanıda &ouml;nemlidir. Anahtar Kelimeler: &nbsp; &nbsp; Allerji, hemoraji, gastrit Cow&rsquo;s milk protein allergy is frequently seen in infancy. Its findings can be diverse, including different histopathological involvement ranging from a superficial to hemorrhagic gastritis. Children presenting with resistant emesis, hematemesis and hemorrhagic gastritis should be investigated for cow&rsquo;s milk allergy. Endoscopy and biopsy are important in the diagnosis. Key words &nbsp; &nbsp; : Allergy, hemorrhagic, gastritis</p

Eosinofilik gastointestinal hastalıklar: Eosinofilik gastro intestinal hastalıkların görülme yaşı küçülüyor mu?

Eozinofilik gastrointestinal hastalıklar gastrointestinal kanalın eozinofilik infiltrasyonu ile karakterizedir. Hastalığın belirtileri etkilenen sindirim segmentine ve sindirim kanalının farklı tabakalarının tutulumuna bağlı olarak değişiklik g&ouml;sterir. Eozinofilik gastrointestinal hastalıklar, eozinofilik &ouml;zofajit, eozinofilik gastroenterit ve eozinofilik kolit gibi alt gruplara ayrılır. Eozinofilinin yerleşimine bağlı olarak mukozal, serozal ya da m&uuml;sk&uuml;ler hastalık olarak gruplamak m&uuml;mk&uuml;nd&uuml;r. Mukozal hastalıklar bunların arasında en yaygın olanıdır. Eozinofilik &ouml;zofajitli hastalar hazımsızlık, kusma, disfaji şikayetleri g&ouml;sterirken, eozinofilik gastroenterit hastaları karın ağrısı, ishal ve kanlı dışkılama şikayetlerine sahiptir. Eozinofilik kolitli hastalarda ise tipik olarak ishal ve alt kadran ağrısı şikayetlerine rastlanır. Hastalık tipik olarak 3. ve 5. dekatlarda g&ouml;r&uuml;lmekle birlikte diğer yaş gruplarında da g&ouml;r&uuml;lebilir. Ana tedavi se&ccedil;enekleri arasında steroid ve diyet değişikliği vardır. 2011 ile 2012 yılları arasında &ccedil;ocuk gastroenteroloji b&ouml;l&uuml;m&uuml;m&uuml;zde 4 hastaya eozinofilik gastrointestinal hastalık tanısı konuldu. Bunlardan 2 tanesi eozinofilik &ouml;zofajit, 1 tanesi eozinofilik kolit, diğeri ise eozinofilik proktokolit tanısı aldı. Bu makalede eozinofilik gastrointestinal hastalık tanısı almış &ccedil;ocuk hastalarımız g&uuml;ncel &ccedil;alışmalar ışığında g&ouml;zden ge&ccedil;irildi. Eosinophilic gastrointestinal disorders constitute a pathology characterized by eosinophilic infiltration of the gastrointestinal tract, the symptoms of which vary depending on the affected digestive segments and the involvement of the different layers of the digestive wall. Eosinophilic gastrointestinal diseases include subcategories such as eosinophilic esophagitis, eosinophilic gastroenteritis and eosinophilic colitis, and depending on the localization of the eosinophilia, it is possible to group them as mucosal, serosal or muscular disease. Mucosal involvement is the most common. Patients with eosinophilic esophagitis suffer from nutrition intolerance, vomiting, and dysphagia; for patients with eosinophilic gastroenteritis, complaints are abdominal pain, diarrhea and blood in stool; and for patients with eosinophilic colitis, they are typically diarrhea and lower quadrant pain. The disease is typically observed in but not limited to the 3rd to 5th decades. The main therapeutic options include steroids and dietary modification. Between 2011 and 2012, 4 patients were diagnosed in our pediatric gastroenterology department. Two were diagnosed with eosinophilic esophagitis, one with eosinophilic colitis and one with eosinophilic proctocolitis. This study aimed to review eosinophilic gastrointestinal diseases in light of the recent studies, referring to children diagnosed with eosinophilic gastrointestinal diseas</p

Psychopathology, quality of life, and related factors in children with celiac disease

Objective: This study aimed to survey children with celiac disease (CD) for psychiatric disorders, determine the possible factors that predict psychopathology, and analyze health‐related quality of life and possible factors that could affect the quality of life. Methods: In this study, all children completed the Schedule for Affective Disorders and Schizophrenia for School Age Children–Present and Lifetime Version–Turkish Version (K‐SADS‐PL‐T), as well as the Pediatric Quality of Life Inventory (PedsQL) for the 8–12 age group, and a sentence completion test. A face‐to‐face interview was performed with the parents of the participants to inform them about the study. Results: This study included 52 children with celiac disease in the age range of 8–12 years, and 40 healthy children. The mean age of the study group was 10.36 ± 0.36 years, and 31 (59%) of them were females. The mean age of the control group was 10.35 ± 0.46 years and 24 (60%) of them were females. The mean subscale scores of the Pediatric Quality of Life Inventory were significantly lower in children with celiac disease when compared to the control group (p < 0.05). There was at least one psychiatric disorder in the 26 (50%) children with celiac disease. Conclusions: This study has shown once more that celiac disease is associated with some psychiatric signs/diagnoses, and that it decreased quality of life. Further studies are needed to determine the factors that could reduce the psychiatric signs. It is apparent that those studies would contribute new approaches to improve diagnosis, treatment, and quality of life

Obstructive chronic pancreatitis with transient eosinophilia in a 13-year-oldchild

&Ccedil;ocuklarda pankreatik kanalın, doğumsal veya edinsel darlığının bir sonucu olarak obstr&uuml;ktif kronik pankreatit ortaya &ccedil;ıkar. Belirgin histolojik değişiklikler periduktal fibrozis ve geri kalan duktal alanda genişlemelerle karakterizedir. Tanıda genellikle endoskopik retrograd kolanjiopankreatikografi, ultrasonografi ve pankreatik fonksiyon testleri gibi y&ouml;ntemler kullanılmaktadır. Eozinofili sıklıkla alerjik rinit, astım, parazitik enfeksiyonlar ve ila&ccedil; reaksiyonu ile ilişkilidir. Seyrek olarak da kronik obstr&uuml;ktif pankreatik hastalıklarda tarif edilmiştir. Bu makalede; karın ağrısı ile başvuran kronik obstr&uuml;ktif pankreatitli bir olguyu sunuyoruz. Olgumuzda, pankreatit semptomları ve eozinofili pankreasa stent yerleştirilmesi ile d&uuml;zelmiştir. Anahtar kelimeler: &nbsp; &nbsp; Kronik pankreatit, eozinofili, &ccedil;ocuk Obstructive chronic pancreatitis in children occurs as a result of congenital or acquired stricture of the pancreatic duct. The prominent histologic changes are characterized by periductal fibrosis and subsequent ductal dilatation. Diagnosis is usually made by imaging studies such as endoscopic retrograde cholangiopancreaticography, ultrasonography, and pancreatic function testing. Eosinophilia is frequently associated with allergic rhinitis, asthma, parasitic infections, and drug reactions. It has been infrequently described with chronic obstructive pancreatic diseases. In this article, we present a patient with eosinophilia and abdominal pain with chronic obstructive pancreatitis. In our case, the symptoms of pancreatitis and eosinophilia improved with pancreatic stent placement. Keywords: &nbsp; &nbsp; Chronic pancreatitis, eosinophilia, child &nbsp; &nbsp;</p