Israel Medical Association Journal

Background: Lung disease in patients with famHiat dys-autonomia is caused mainly by recurrent aspiration of gastric contents, food and liquids swallowed incorrectly.

Objective: To describe chest computed tomography findings in patients with familial dyautonomia.

Methods: A retrospective analysis of chest CT findings was performed for 34 FD patients (15 females, 19 males) with a mean age of 18± 12.8 years.

Results: The CT revealed bronchial wall thickening (in 94% of the patients), atelectasis (in 73%), ground glass opacities (in 53%), focal hyperinflation (in 44%), fibrosis (in 29%) and bronchiectasis (in 26%). The extrapulmonary abnormalities were scoliosis (79%) and esophageal dilatation (35%). Silent fractures were noted in two vertebral bodies and one rib.

Conclusions: Pulmonary changes were consistent with chronic inflammation in the bronchi and interstitial tissues. Ground  glass opacities and fibrosis support the theory that these changes could be due to gastric aspiration. Bronchiectasis is less frequent. Esophageal dilatation with fluid overflow adds to aspiration. Fractures can be asymptomaflc and are often missed.
 

Synovial plicae are membranous inward folds of the synovial lining of the knee joint capsula. Such folds are regularly found in the human knee, but most are asymptomatic and of little clinical consequence. However, they can become symptomatic and cause knee pain. In this review, we will discuss medial plica syndrome. Medial plica irritation of the knee is a common source of anterior knee pain. The main complaint is an intermittent, dull, aching pain in the area medial to the patella above the joint line and in the supramedial patellar area. Pain increases with activity, especially when knee flexion and extension are required. Treatment includes physiotherapy, reducing activity and rest. In cases that do not respond initially to an exercise program, corticosteroid injections and non-steroidal anti-inflammatory medication are given. Results of conservative treatment seem to be more appropriate in young patients with a short duration of symptoms. If conservative treatment fails, surgical treatment using arthroscopy is appropriate. During arthroscopy, excision of the whole plica should be achieved.

Background: Long QT syndrome is an inherited cardiac disease, associated with malignant arrhythmias and sudden cardiac death.

Objectives: To map and identify the gene responsible for LQTS[1] in an Israeli family.

Methods: A large family was screened for LQTS after one of them was successfully resuscitated from ventricular fibrillation. The DNA was examined for suspicious loci by whole genome screening and the coding region of the LQT2 gene was sequenced.

Results: Nine family members, 6 males and 3 females, age (median and interquartile range) 26 years (13, 46), who were characterized by a unique T wave pattern were diagnosed as carrying the mutant gene. The LQTS-causing gene was mapped to chromosome 7 with the A614V mutation. All of the affected members in the family were correctly identified by electrocardiogram. Corrected QT duration was inversely associated with age in the affected family members and decreased with age.
Conclusions: Careful inspection of the ECG can correctly identify LQTS in some families. Genetic analysis is needed to confirm the diagnosis and enable the correct therapy in this disease