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)

Mutations affecting the pro alpha 1(I) or pro alpha 2(I) collagen genes have been identified in each of the major clinical types of osteogenesis imperfecta. This study reports the presence of a heritable connective tissue disorder in a family with an osteopenic syndrome which has features of mild osteogenesis imperfecta but was considered idiopathic osteoporosis in the proband. At age 38, while still premenopausal, she was found to have osteopenia, short stature, hypermobile joints, mild hyperelastic skin, mild scoliosis, and blue sclerae. There was no history of vertebral or appendicular fracture. Hip and vertebral bone mineral density measurements were consistent with marked fracture risk. Delayed reduction SDS-PAGE of pepsin-digested collagens from dermal fibroblast cultures demonstrated an anomalous band migrating between alpha 1(I) and alpha 1(III). This band merged with the normal alpha-chains upon prereduction, indicating an unexpected cysteine residue. Cyanogen bromide peptide mapping suggested that the mutation was in the smaller NH2-terminal peptides. cDNA was reverse transcribed from mRNA and amplified by the polymerase chain reaction. A basepair mismatch between proband and control alpha 1(I) cDNA hybrids was detected by chemical cleavage with hydroxylamine:piperidine. The cysteine substitution was thus localized to alpha 1(I) exon 9 within the cyanogen bromide 4 peptide. Nucleotide sequence analysis localized a G----T point mutation in the first position of helical codon 43, replacing the expected glycine (GGT) residue with a cysteine (TGT). The prevalence of similar NH2-terminal mutations in subjects with this phenotype which clinically overlaps idiopathic osteoporosis remains to be determined.
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PMID:An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. 173 47

Hip fracture is one of the most severe consequences of osteoporosis affecting aged women. However, abnormalities of bone turnover responsible for bone loss in this condition have not been clearly defined. To further evaluate the bone metabolic status of women sustaining hip fracture, we have prospectively measured serum osteocalcin as a marker of bone formation and urinary excretion of pyridinoline (Pyr) and deoxypyridinoline (D-pyr) cross-links as markers of bone collagen degradation in 174 independently living women (80 +/- 8 years) within a few hours after a hip fracture. Comparison was made with 77 age-matched controls (80 +/- 5 years) and 17 premenopausal women (39 +/- 3 years). In addition 15 of the patients were followed with daily measurements during the first postoperative week. At the time of admission osteocalcin was 20% lower in the fractured women compared to the elderly controls (7.6 +/- 3.8 vs. 9.5 +/- 4.5 ng/ml, P = 0.001). Pyr and D-pyr were 36% and 40% higher, respectively (P = 0.0001), than in elderly controls and 85% and 76% higher than in premenopausal controls (P = 0.0001). Serum osteocalcin did not correlate with the cortisol level measured at the same time (r = 0.03, ns), nor with serum albumin and creatinine. Serum osteocalcin remained unchanged within 18 hours after fracture, whereafter it progressively decreased until the third postoperative day. No correlation was noted between the excretion of pyridinoline cross-links and the time elapsed from fracture.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Impairment of bone turnover in elderly women with hip fracture. 824 67

Thirty-four hips (22 patients) with history and physical findings consistent with osteonecrosis of the femoral head were evaluated preoperatively by radiographs, bone scans and magnetic resonance images. All patients with Stage 0, I, or II disease by the Ficat and Arlet classification underwent core decompression using the same technique. Osteonecrosis was confirmed histologically in all 34 hips. Eighteen of 22 patients had prognostic factors traditionally associated with poor outcome including collagen vascular diseases and continued use of steroids. Followup averaged 4 years for 18 patients with 29 hips. Four patients died secondary to systemic illness. Twelve patients had good or excellent results using the Modified Harris Hip Score with 6 patients needing hip arthroplasty. In this group of patients previously associated with poor prognosis, no hip fractures were seen and 66% good to excellent results were obtained.
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PMID:Core decompression for early osteonecrosis of the hip in high risk patients. 902 Feb 17

Arthroscopic thermal modification of collagen in the hip capsular tissue appears to be a treatment option for patients with hip instability. Traumatic hip instability is associated with frank dislocation or a subluxation, and labral tears. Atraumatic hip instability is associated with evidence of generalized ligament laxity. It can be associated with bone-collagen type disorders, including Ehlers-Danlos syndrome, Down syndrome, arthrochalasis multiplex congenita, developmental dysplastic hip, and idiopathic type. As previously discussed by Bellabarba et al, capsular laxity may be the underlying cause of dynamic hip instability. The capsule is a fibrous, thick, and strong structure that encircles the proximal femur and the acetabulum. The capsule is thicker anteriorly than posteriorly, and consists of two sets of fibers, circular and longitudinal. The capsule ligaments play a very important role in hip stability. The hip joint capsule is reinforced by the iliofemoral, pubofemoral, and ischiofemoral ligaments. It remains sensitive to stretch and serves as a mechanism for muscular feedback and pain. The iliofemoral ligament limits hyperextension and lateral rotation of the hip joint and is taut in full extension. Full extension of the hip exposes the capsule and ligaments to a twisting and shortening effect that forces the head onto the acetabulum. We are currently studying the effect of iliofemoral ligament deficiency and its relationship to instability. Many of the properties of synovial lubrication depend on contact with articular surfaces, and incongruency due to instability may have some functional role in distribution of synovial fluid, leading to stresses from weightbearing and eventually to rapid deterioration of the articular surfaces. The high-level athletes in this series include two professional baseball players, three professional golfers (PGA), one professional football player (NFL), one figure skater (Olympic gold medalist), one gymnast (Olympic level, bilateral hips), and one ballet dancer; they returned to their pre-injury level of activity. The other patients returned to their pre-injury functional lifestyle. Hip instability appears to present consistently with stable gait abnormalities and painful sensation of instability. Recognizing the various patterns of hip instability is complicated, and therefore management and outcome of these disorders are quite variable. Bellabarba et al concluded that physical therapy alone had been unsuccessful and that temporary success of a posterior capsular "plication" in one patient showed promise. Arthroscopic thermal modification of collagen in the hip capsular tissue appears to be a treatment option for patients with hip instability. The hip joint capsule is predominantly type 1 collagen, and the mechanism of tissue shrinkage through type 1 collagen alteration is well documented in the literature. Short-term results appear promising, however, more studies are required to determine the long-term efficacy of this procedure in the treatment of this challenging disorder.
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PMID:The role of arthroscopic thermal capsulorrhaphy in the hip. 1167 89

Hip fracture is one of the severest consequences of osteoporosis affecting elderly women, but abnormalities of bone turnover responsible for bone loss have not been clearly defined. This study evaluated the relationship of bone turnover parameters to hip fracture in postmenopausal elderly women. We also investigated the effects of endogenous hormones and vitamin D deficiency on osteoporotic hip fracture. The subjects were 21 osteoporotic patients with hip fracture (study group) and 20 healthy postmenopausal women (control group). We measured osteocalcin levels, total and bone alkaline phosphatase (T-ALP and B-ALP), calcitonin, intact parathyroid hormone (iPTH), serum 25 hydroxyvitamin D (25OHD), urinary free deoxypyridinoline (D-pyr) and cross-linked N-telopeptides of type 1 collagen (NTx) levels. Serum T-ALP and B-ALP levels in the study group were lower than those of the control group. The mean serum 25OHD levels in the study group were not significantly different from the control group, but in five cases the mean serum iPTH level was increased. The mean urinary NTx levels were significantly increased in the study group compared with the control group (p<0.05). There was no significant increase in urinary free D-pyr between the two groups. There was significant correlation between serum T-ALP levels and B-ALP levels and between serum iPTH levels and B-ALP levels. The mean serum SHBG level in the study group was higher than in the control group (p<0.05). These data suggest that postmenopausal hip fracture patients have biochemical evidence of decreased bone formation and increased bone resorption compared with postmenopausal healthy subjects. We suggest these abnormalities play a role in the decrease of bone mass and the consequent increase in bone fragility that characterises osteoporotic hip fracture.
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PMID:Relationship of bone turnover parameters, endogenous hormones and vit D deficiency to hip fracture in elderly postmenopausal women. 1213 39

Diabetes increases susceptibility to chronic skin ulceration. The etiology of chronic wound formation in diabetic individuals is multifactoral but may be accelerated by changes in the structure and function of the skin secondary to impaired fibroblast proliferation, decreased collagen synthesis, and increased matrix metalloproteinase (MMP) expression. This study explored the effects of all-trans-retinoic acid (RA) on cellular and biochemical features of diabetic human skin in organ culture. Two-mm skin biopsies from hip or ankle were obtained from diabetic subjects and incubated for 9 days in the absence or presence of 2 micro mol/L RA. Hip skin from non-diabetic individuals served as control. Following organ culture incubation, untreated and RA-treated tissue was examined histologically after staining with hematoxylin and eosin. In parallel, organ culture-conditioned medium collected on days 5 and 7 was assayed for levels of active and total MMP-1 (interstitial collagenase) and MMP-9 (gelatinase B). The same organ culture fluids were assayed for the presence of soluble collagen. In comparison with skin from non-diabetic individuals, diabetic skin demonstrated no major differences in overall epidermal thickness or collagen production (both were increased in RA-treated tissue as compared to non-RA-treated tissue). In contrast, levels of MMP-9 (active forms) were elevated in organ culture fluid from diabetic skin as compared to non-diabetic control skin. In the presence of RA, active forms of both MMP-1 and MMP-9 were reduced. Together, these data suggest that RA has the capacity to improve structure and function of diabetic skin, and that a major effect is on reduction of collagen-degrading MMPs.
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PMID:All-trans-retinoic acid suppresses matrix metalloproteinase activity and increases collagen synthesis in diabetic human skin in organ culture. 1521 72

Bone turnover markers (BTM) progressively decrease in young adult women. This might be linked to changes in insulin-like growth factor-1 (IGF-I). Four serum BTMs [serum C-telopeptide of type 1 collagen (CTX), osteocalcin (OC), N-terminal propeptide of type 1 procollagen (P1NP), and bone alkaline phosphatase (bone AP)], serum calcium (sCa), phosphate (sPO(4)), magnesium, 25-hydroxyvitamin D [25(OH)D], intact parathyroid hormone (PTH) and IGF-I were measured in 531 young healthy premenopausal women aged 20-50 years participating in the BONTURNO study. In all subjects bone mineral density (BMD) was measured at the spine and at the hip by dual-energy X-ray densitometry. Hip BMD, IGF-I, the four BTMs, sCa and sPO(4) progressively decreased with advancing age and this was associated with proportional increases in PTH. IGF-I levels were significantly and positively correlated with sCa, sPO(4), CTX, OC, P1NP, bone AP, spine BMD, femoral neck BMD and total hip BMD and negatively with age, BMI and serum PTH. When the IGF-I levels were adjusted for age and BMI, the only correlations maintaining a statistical significance were those with serum PTH, P1NP and bone AP. These associations were weak and IGF-I accounted for a only a small proportion of the BTM variance. The mean, age-adjusted IGF-I values were significantly higher in women practicing physical exercises for more then 60 min per week than in sedentary women. In conclusion, in this study we provide evidence of an association between the age-related decline in IGF-I with the progressive decrease in bone formation markers in premenopausal women.
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PMID:Insulin-like growth factor-1 is associated with bone formation markers, PTH and bone mineral density in healthy premenopausal women. 1985 71

Hip instability is becoming a more commonly recognized source of pain and disability in patients. Traumatic causes of hip instability are often clear. Appropriate treatment includes immediate reduction, early surgery for acetabular rim fractures greater than 25% or incarcerated fragments in the joint, and close follow-up to monitor for avascular necrosis. Late surgical intervention may be necessary for residual symptomatic hip instability. Atraumatic causes of hip instability include repetitive external rotation with axial loading, generalized ligamentous laxity, and collagen disorders like Ehlers-Danlos. Symptoms caused by atraumatic hip instability often have an insidious onset. Patients may have a wide array of hip symptoms while demonstrating only subtle findings suggestive of capsular laxity. Traction views of the affected hip can be helpful in diagnosing hip instability. Open and arthroscopic techniques can be used to treat capsular laxity. We describe an arthroscopic anterior hip capsular plication using a suture technique.
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PMID:Hip instability. 2047 29

Antibiotic loaded acrylic cement (ALAC) is widely employed in primary as well as revision hip arthroplasties. There are prerequisites in relation to antibiotic choice and mixing techniques. The 2007 French Consensus Conference delivered recommendations for ALAC in primary arthroplasty. Decisions need to be more patient-specific in revision surgery. Appropriate use of ALAC (and associated antibiotics) and awareness of alternative possibilities such as collagen or bone graft impregnated with antibiotics may guide future practice.
Hip Int
PMID:Antibiotic addition to cement - is it beneficial. 2238 22

Total Hip Arthroplasty (THA) is one of the most common orthopedic operations in the world. The number of THA is expected to grow and with it the number of associated complications. Although improved surgical technique and the development of more scrupulous asepsis has decreased the incidence of periprosthetic joint infection (PJI), it remains one of the most feared complications of joint arthroplasty. The purpose of this study is to present the use of antibiotic-loaded collagen sponges (Collatamp EG) in the prophylaxis and treatment of PJI. For this scope a case report is described. The advantages offered by the antibiotic loaded sponges in terms of high and sustained concentration of antibiotic at the site of infection, diffused by the fully reabsorbable carrier, showed to be a an important adjuvant therapy in the treatment of PJI. Low systemic concentration of the drug and a wide versatility in surgical application are other advantages of this dispositive.
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PMID:The use of collatamp in total hip arthroplasty. 2248 71


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