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

Güncel Literatür Işığında Temporomandibular Eklem Rahatsızlıklarında Kullanılan Görüntüleme Yöntemleri

Başın tek hareketli eklemi olan temporomandibular eklem, insan vücudundabulunan en karmaşık eklemlerden birisidir. Temporomandibular eklem bozuklukları geniş bir popülasyonu etkileyen patolojik değişikliklerdir. Eklemdiski, mandibular kondil ve artiküler eminenste meydana gelebilen bu değişiklikler klinik olarak ağrı, ağız açmada kısıtlılık ve eklemden ses gelmesigibi belirtilerle ortaya çıkar. Temporomandibular eklem bozukluklarının tanısında hastanın şikayetleri ve klinik muayene önemlidir. Ayrıca teşhis, tedavive prognozun belirlenmesi için çeşitli görüntüleme yöntemlerinden yararlanılır. Temporomandibular eklemin görüntülenmesinde; direkt radyografiler,kinetik x-ışını görüntüleme, artrografi, konvansiyonel tomografi, bilgisayarlıtomografi, konik ışınlı bilgisayarlı tomografi, nükleer tıp, ultrasonografi vemanyetik rezonans gibi görüntüleme yöntemleri kullanılabilir. Günümüzdetemporomandibular eklemin yumuşak doku değerlendirmesinde manyetikrezonans görüntüleme, kemik doku değerlendirmesinde konik ışınlı bilgisayarlı tomografi yaygın olarak kullanılmaktadır.The temporomandibular joint is the only hinge joint in the cranium whichis one of the most complicated joints in the body. Temporomandibular jointdisorders are pathological changes that influence a large population. Thesepathological changes may affect the joint disc, mandibular condyle, andarticular eminence and characterize by clinical symptoms like pain, restriction during the mouth opening, and joint sounds. Individual complaints andclinical examination are key factors for diagnosis of the temporomandibularjoint disorders. Besides, several imaging methods are used to determine thediagnosis, prognosis, and management of temporomandibular joint disorders. Imaging modalities such as direct radiography, digital fluoroscopy,arthrography, conventional tomography, cone-beam computed tomography,scintigraphy, ultrasonography, and magnetic resonance imaging can beused for imaging the temporomandibular joint. Currently, while magneticresonance imaging is generally used for evaluation of the soft tissue of thetemporomandibular joint, cone beam computed tomography is commonlyused for evaluation of the hard tissue of the temporomandibular joint.</p