Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers. Genome-wide linkage analysis identified a 6.7Mbp disease-associated locus on chromosome 3q21.3-3q22.2 (LOD score 9.02; D3S1290). Whole-exome sequencing identified a single homozygous variant within this locus, c.51_52ins(28); p.(V18fs56*) in KY, segregating in the family as expected and not found in 190 Bedouin controls. High KY transcript levels were demonstrated in muscular organs with lower expression in the CNS. The phenotype is reminiscent of kyphoscoliosis seen in Ky null mice. Two recent studies done independently and parallel to ours describe somewhat similar phenotypes in one and two patients with KY mutations. KY encodes a tranglutaminase-like peptidase, which interacts with muscle cytoskeletal proteins and is part of a Z-band protein complex, suggesting the disease mechanism may resemble myofibrillar myopathy. However, the mixed myopathic-neurologic features caused by human and mouse Ky mutations are difficult to explain by loss of KY sarcomere stabilizing function alone. KY transcription in CNS tissues may imply that it also has a role in neuromotor function, in line with the irregularity of neuromuscular junction in Ky null mutant mice.

The Diagnostic Value of the Vacuum Phenomenon during Hip Arthroscopy.

The diagnostic value of the vacuum phenomenon between the femoral head and the acetabulum, and time frame of its occurrence after application of traction is an important clinical question. The resulting arthrogram may outline the shape, location, and extent of cartilage lesions prior to arthroscopy of the hip joint. The presence, duration, and diagnostic information of the vacuum phenomenon were evaluated in 24 hips that underwent arthroscopy. The operative diagnosis was compared to the results of imaging studies and to findings obtained during a traction trial prior to arthroscopy. Indications for arthroscopy included avascular necrosis, labral tears, loose bodies, osteoarthrosis, and intractable hip pain. In 22 hips the vacuum phenomenon developed within 30 seconds after application of traction. The most important data obtained from the vacuum phenomenon was the location and extent of femoral head articular cartilage detachment and the presence of nonossified loose bodies. The vacuum phenomenon did not reveal labral or acetabular cartilage pathology in any of these patients. The vacuum phenomenon obtained during the trial of traction can add valuable information prior to hip arthroscopy. Femoral head articular cartilage detachment was best documented by this method. The hip arthroscopist should utilize this diagnostic window routinely prior to hip arthroscopy.

[Hip arthroscopy--indications, surgical technique and implementation].

Hip arthroscopy was first described by Burman in 1931. During the 1980's this procedure was performed by a limited group of orthopedic surgeons. Implementation and development of the surgical procedure received most attention during those years, together with the formulation of specific indications to perform hip arthroscopy. In contrast to other large joints (knee, shoulder), where accurate diagnosis is feasible using standard imaging procedures such as plain radiographs, computed tomography and magnetic resonance imaging, the hip joint often presents as a diagnostic anomaly. In specific cases hip arthroscopy can add invaluable information, which, in correlation with the symptoms of the patient, can lead to an accurate diagnosis. Hip arthroscopy has various indications including the removal of foreign or loose bodies, irrigation of an infected hip joint and evaluation of the cartilage. The list of indications is still expanding as more surgeons become familiar with the technique. Hip arthroscopy is a safe and efficient procedure in experienced hands. This review of the literature describes the surgical procedure, various clinical situations, indications and the therapeutic potential of hip arthroscopy.