Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation of development, genital hypoplasia, andear anomalies. Clinical presentation varies widely by type and severity.

American Academy of Audiology Position Statement on Early Identification of Cytomegalovirus in Newborns.

The American Academy of Audiology recommends early identification of congenital cytomegalovirus (cCMV) through screening to allow for appropriate early diagnosis, intervention, and monitoring for congenital, progressive, and delayed-onset hearing loss in infants with cCMV.Early identification of cCMV is a valuable component in the diagnostic evaluation of infants with sensorineural hearing loss. The Academy recognizes the important role audiologists serve as clinical care providers and educators and advocates for early identification and audiological management of infants with cCMV.

[Disease-related knowledge acquisition through structured patient information in rheumatoid arthritis (StruPI-RA) : First results of the StruPI-RA study in Germany].

Background/objective: The structured patient information for rheumatoid arthritis (StruPi-RA) program was the first standardized outpatient education program in rheumatoid arthritis (RA) in Germany. The main objective of the study was to determine the efficacy of the StruPi-RA program concerning disease-specific knowledge acquisition in patients with early stage RA or after changing the treatment regimen.

Methods: A total of 61 patients were included in a control group design, 32 in the intervention group (IG) and 29 in the control group (CG).

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2.

Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis.

Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey.

Results: The average diagnostic delay was 27.

Long-term functional outcomes (median 10 years) after locked plating for displaced fractures of the proximal humerus.

Background: Locked plating has become an accepted treatment for displaced fractures of the proximal humerus. However, to our knowledge, long-term outcomes have not been reported.

Methods: Between February 2002 and March 2004, 121 patients with displaced proximal humeral fractures were treated by open reduction and locking plate fixation.