Juvenile idiopathic arthritis: Diagnosis and differential diagnosis

Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks. The previous classification of JIA included seven different categories, whereas its current classification was compiled by the International League of the Association for Rheumatology, and replaced the previous terms of "juvenile chronic arthritis" and "juvenile rheumatoid arthritis," which were used in Europe or North America, respectively, with the single nomenclature of JIA. As mentioned above, JIA is defined as arthritis of unknown etiology that manifests itself before the age of 16 years and persists for at least 6 weeks, while excluding other known conditions. The clinical symptoms of JIA can be quite variable. Several symptoms that are characteristic of arthritis are not necessarily diagnostic of JIA and may have multiple etiologies that can be differentiated with careful examination of patient history. The disease may develop over days or sometimes weeks, thereby making the diagnosis difficult at the time of presentation. To make a clinical diagnosis of JIA, the first step is to exclude arthritis with known etiologies. Of note, late treatment due to excessive delay of diagnosis can cause severe damage to joints and other organs and impair skeletal maturation. Therefore, early detection of JIA is critical to ensure prompt treatment and to prevent long-term complications including the likelihood of disability in childhood

Regurgitation in healthy and non healthy infants

Uncomplicate regurgitation in otherwise healthy infants is not a disease. It consists of milk flow from mouth during or after feeding. Common causes include overfeeding, air swallowed during feeding, crying or coughing; physical exam is normal and weight gain is adequate. History and physical exam are diagnostic, and conservative therapy is recommended. Pathologic gastroesophageal reflux or gastroesophageal reflux disease refers to infants with regurgitation and vomiting associated with poor weight gain, respiratory symptoms, esophagitis. Reflux episodes occur most often during transient relaxations of the lower esophageal sphincter unaccompanied by swallowing, which permit gastric content to flow into the esophagus. A minor proportion of reflux episodes occurs when the lower esophageal sphincter fails to increase pressure during a sudden increase in intraabdominal pressure or when lower esophageal sphincter resting pressure is chronically reduced. Alterations in several protective mechanisms allow physiologic reflux to become gastroesophageal reflux disease; diagnostic approach is both clinical and instrumental: radiological series are useful to exclude anatomic abnormalities; pH-testing evaluates the quantity, frequency and duration of the acid reflux episodes; endoscopy and biopsy are performed in the case of esophagitis. Therapy with H2 receptor antagonists and proton pump inhibitors are suggested

Calpain-3 mutations in Turkey

Abstract Autosomal recessive limb-girdle muscular dystrophies (LGMD2s