scholarly journals A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Zeng Zhang ◽  
Kechao Zhu ◽  
Huiyong Dai ◽  
Qi Wang ◽  
Changqing Zhang ◽  
...  
Keyword(s):  
Femoral Head ◽  
Avascular Necrosis ◽  
Clinical Diagnosis ◽  
Hip Joint ◽  
Bone Disease ◽  
Novel Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Joint Function ◽  
Subsequent Loss

AbstractAvascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, p.Gly1173Ser) in exon 50 of COL2A1 in the Gly-X–Y domain. Previously, only five different COL2A1 mutations have been described in patients with familial ANFH. Therefore, our findings provide significant clues to the phenotype–genotype relationships in familial ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.

scholarly journals A Novel Mutation of COL2A1 in a Large Chinese Family with Avascular Necrosis of the Femoral Head

2021 ◽  
Author(s):  
Zeng Zhang ◽  
Kechao Zhu ◽  
Huiyong Dai ◽  
Qi Wang ◽  
Changqing Zhang ◽  
...  
Keyword(s):  
Femoral Head ◽  
Avascular Necrosis ◽  
Clinical Diagnosis ◽  
Hip Joint ◽  
Bone Disease ◽  
Novel Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Joint Function ◽  
Subsequent Loss

Abstract Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familiar ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, Gly1173Ser) in exon 50 of COL2A1 in the Gly-X-Y domain. Previously, only five different COL2A1 mutations have been described in patients familiar ANFH. Therefore, our findings provide significant clues to the phenotype-genotype relationships in familiar ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.

Results of applying minimally invasive two-stage decompression with bone alloplasty for avascular necrosis of the femoral head

2021 ◽  
Vol 19 (3) ◽  
pp. 69-74
Author(s):  
A. V. ANTONOV ◽  
◽  
V. E. VOLOVIK ◽  
A. G. RYKOV ◽  
S. N. BEREZUTSKIY ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Femoral Head ◽  
Minimally Invasive ◽  
Avascular Necrosis ◽  
Hip Joint ◽  
Rapid Development ◽  
Young Patients ◽  
Walking Distance ◽  
Joint Function ◽  
Two Stage

Avascular necrosis of the femoral head is a complex medical and social problem. The rapid development of the disease, the complexity of diagnosis and the prevalence among young patients leads to impaired hip joint function and further disability. To improve the quality of life of patients, the Orthopedic Department of the Traumatology Center of Khabarovsk developed a method of minimally invasive two-stage decompression. Surgical treatment was performed in 30 cases in patients with ANFH of stages 0, 1, 2 (by ARCO). Evaluation of treatment results was carried out before operative treatment, after 6 and 12 months. 12 months after surgical treatment, positive dynamics was noted, namely, pain reduction, a walking distance increase, abandonment of crutches, opportunity to use public transport, ability to sit for a long time in one and the same position, to put on shoes, and the abandonment of constant intake of non-steroidal anti-inflammatory drugs. The assessment of hip joint function in 20% of cases showed an excellent result, in 26,6% of cases — a good result, in 40% — satisfactory, and in 13,3% (4 people) — unsatisfactory result, which proves the effectiveness of the proposed treatment method and the feasibility of its use.

The Acetabular Sector Angle of the Adult Hip Determined by Computed Tomography

1986 ◽  
Vol 27 (4) ◽  
pp. 443-447 ◽  
Author(s):  
S. Anda ◽  
S. Svenningsen ◽  
L. G. Dale ◽  
P. Benum
Keyword(s):  
Computed Tomography ◽  
Femoral Head ◽  
Hip Joint ◽  
Posterior Part ◽  
Ct Images ◽  
Joint Function ◽  
Axial Ct ◽  
Sector Angle

A new set of angles measured on standard axial CT images of the hip joint is defined. The angles provide information on the support of the femoral head from the anterior and the posterior part of the acetabulum. These angles have been measured in 82 adult hips, and correlated to a set of established parameters commonly measured at conventional roentgenography and on CT images of the hip joint. The defined angles may prove to be valuable in the total appreciation of hip joint function and stability.

scholarly journals The first experience of arthroscopy in the case of aseptic necrosis of the femoral head

2021 ◽  
pp. 39-44
Author(s):  
Maxim Golovakha ◽  
Vadym Kirichenko ◽  
Olexandra Grytsenko ◽  
Rostyslav Tytarchuk ◽  
Stanislav Bondarenko
Keyword(s):  
Femoral Head ◽  
Avascular Necrosis ◽  
Hip Joint ◽  
Comparison Group ◽  
Long Term Results ◽  
Control Group ◽  
Study Group ◽  
Hip Joint Replacement ◽  
Therapeutic Exercises

Observation of patients with avascular necrosis of the femoral head formed a hypothesis about inability to eliminate the hip contracture by tunneling the femoral head on the background of drug therapy and therapeutic exercises, which causes an unsatisfactory outcomes. Therefore, the was idea to use arthroscopy for performing capsulotomy, synovectomy and removal of free cartilage and bone fragments. Objective. To evaluate efficiency of arthroscopy in patients with avascular necrosis of the femoral head. Methods. In the period from 2010 to 2018, 60 patients were observed. With the I–II stages, absence of inflammatory processes in the joint, body mass index less than 35. In the comparison group (28 patients) we made  only tunneling of the femoral head, in the study group (32) at first  we performed arthroscopy of the hip joint, capsulotomy, synovectomy, removal of cartilage fragments, and only then — tunneling. We analyzed the proportion of hip joint replacement that was performed in the long term follow up and the intensity of pain by visual analog scale. Results. During arthroscopy we often revealed the joint cartilage lesions — 30 %, articular labrum lesions — 5 %, synovitis — 100 %, CAM impingement — 90 %. In the study group in the first 2 weeks after surgery, the pain was severe more than in the comparison group. Then the pain rate became the same in both groups. In the control group in the period from 3 to 5 years after tunneling of the femoral head, arthroplasty was performed in 11 patients (39.3 %), in the study group for 2 to 3 years after surgery — 8 (25.0 %). Conclusions. Analysis of long-term results of tunneling of the femoral head with arthroscopy of the hip joint in patients with avascular necrosis of the femoral head showed improvement in hip function, no disease progression in 60–75 % patients in 2–3 years after surgery.

scholarly journals A Novel Compound Heterozygous Mutation of FSHR Causes Primary Ovarian Insufficiency

2020 ◽  
Author(s):  
Nan Zhang ◽  
Jiawei Xu ◽  
Xiao Bao ◽  
Feifei Zhao ◽  
Dayuan Shi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Primary Ovarian Insufficiency ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Primary Amenorrhea ◽  
Compound Heterozygous ◽  
Ovarian Insufficiency ◽  
Functional Analyses

Abstract Background: Primary ovarian insufficiency, one of the main causes of female infertility, is a heterogeneous disease when it comes to the phenotype and etiology. Familial cases are observed in approximately 10% of patients which indicates a strong genetic component. However, the underlying cause remains to be identified in most cases of patients.Methods: Here we studied an un-consanguineous Han Chinese family in which four siblings are primary amenorrhea and hypergonadotropic hypogonadism. Three siblings with POI and one unaffected sibling were exome sequenced. Also, other members in this family were genotyped by Sanger Sequencing. In silicon and in-vitro functional analyses were performed.Results: Whole exome sequencing identified a shared novel compound heterozygous mutation of FSHR gene in all the affected members. c.1412T>G, the first variant identified in FSHR IL2(intracellular loop2) in POI patients, and another novel mutation c.1090_1091del were the genetic etiology of this family. In-vitro functional analyses showed that cAMP (second messenger of FSHR) producing was abolished by c.1412T>G. Conclusions: Our study identified two novel FSHR mutations in a compound heterozygous state and gave the evidence that the FSHR IL2 could play a crucial role in FSHR-caused POI.

scholarly journals Extensive Recontouring of the Femoral Head with Osteochondral Allografting: A Case Report with Histological and MicroCT Analysis

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Amir A. Jamali ◽  
Douglas Rowland ◽  
Kristen N. Vandewalker
Keyword(s):  
Case Report ◽  
Femoral Head ◽  
Posttraumatic Growth ◽  
Avascular Necrosis ◽  
Hip Joint ◽  
Case Reports ◽  
Young Patients ◽  
Osteochondral Allograft ◽  
Microct Analysis ◽  
Osteochondral Allografts

Morphological abnormalities such as cam deformity or growth disturbances can have a detrimental effect on the smooth function of the hip joint. This case reports an attempt to salvage the hip joint of a young patient with a posttraumatic growth disturbance of the femoral head using a fresh osteochondral allograft. This treatment has been used very rarely in the femoral head due to the presumed tenuous blood supply of the head and the perceived risk of nonunion or progressive avascular necrosis. The patient in this case had persistent pain and mechanical symptoms leading to hip replacement. A detailed analysis of the retrieved femoral head demonstrated durability and healing of the grafts based on gross inspection, histology of bone and cartilage, and microCT analysis. This case is the first report to our knowledge of a detailed histological and radiographic analysis of the fate of osteochondral allografts of the femoral head. We hope that this case provides justification for the use of osteochondral allografts of the femoral head for other indications such as femoral head fractures, avascular necrosis, and benign epiphyseal tumors of the femoral head in an effort to avoid arthroplasty in young patients. The authors have obtained the patient’s informed written consent for print and electronic publication of the case report.

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