Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Stickler Syndrome is an infrequent autosomal dominant connective tissue disorder. The most prevalent mutation affects type II collagen gene and results in abnormalities in cartilage, vitreous and nucleus pulposus. Orthopaedic manifestations include joint hyper- mobility and pain with early development of secondary osteoarthritis. The condition has a predilection for the femoral head and patients usually present in their third to fourth decade with secondary hip arthritis. We report on two siblings with Stickler Syndrome who presented with hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasties (THA). The patients experienced pain relief and improved quality of life after surgery.
Hip Int
PMID:Bilateral total hip arthroplasty in siblings with Stickler Syndrome. 1919 43

This study presents the results of four Ligamentum Teres (LT) reconstruction procedures for hip instability with an average of 21.4 months follow-up (range 16.4-27.8). The indication for reconstruction was patients who complained of hip instability (hip giving way on gait or activities of daily living) on a background of a connective tissue disorder and generalized ligamentous laxity. The following data were recorded: age, sex, body mass index, hip range of motion, impingement signs, acetabular coverage (lateral center edge angle and acetabular inclination), acetabular retroversion (ischial spine sign and a crossover sign), femoral alpha angles and femoral neck shaft angles. Four patient recorded outcomes (PROs) were collected at 3 months, 12 months and 24 months. Three patients were female. Three out of four procedures had an improvement in PROs. One patient with bilateral procedures had an improvement in PROs on one side at 1 year but a failure of the graft on the contralateral side. There were no complications reported with the technique. LT reconstruction and concomitant capsular plication in this case series is associated with an improvement in outcomes in three out of four of the patients with hip instability associated with a full thickness tear of the LT and who presented with hip instability on a background of generalized ligamentous laxity and a connective tissue disorder. However, the physical examination, radiographic and intra-operative findings which may help predict who would benefit from LT reconstruction require further investigation.
J Hip Preserv Surg 2016 Oct
PMID:Arthroscopic reconstruction of the Ligamentum Teres: a case series in four patients with connective tissue disorders and generalized ligamentous laxity. 2963 97

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients. The clinical features are largely comparable with patients reported in the literature. Most (n = 10) patients had variants leading to (partial) loss of exon 6 of the COL1A1 or COL1A2 genes. One patient did not have a previously reported likely pathogenic COL1A1 variant. Data regarding management were retrieved. Hip surgery was performed in 5/12 patients and 3/12 patients underwent spinal surgery. As much as 4/12 patients were wheelchair-bound or unable to walk unaided. Fractures were present in 9/12 individuals with 1 patient requiring bisphosphonate treatment. Echocardiograms were performed in 10 patients and 2 individuals showed an abnormality likely unrelated to aEDS. One patient gave birth to two affected children and went through preterm labor requiring medication but had no additional complications. Of the eight adults in our cohort, the majority entered a career. Our data point toward a genotype-phenotype relationship with individuals with aEDS due to pathogenic COL1A1 variants causing complete or partial loss of exon 6 being more severely affected regarding musculoskeletal features. There is a significant lack of knowledge with regard to management of aEDS, particularly in adulthood. As such, systematic follow-up and multidisciplinary treatment is essential.
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PMID:Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. 3209 Nov 83