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Bone & Joint Open
Vol. 3, Issue 9 | Pages 666 - 673
1 Sep 2022
Blümel S Leunig M Manner H Tannast M Stetzelberger VM Ganz R

Aims

Avascular femoral head necrosis in the context of gymnastics is a rare but serious complication, appearing similar to Perthes’ disease but occurring later during adolescence. Based on 3D CT animations, we propose repetitive impact between the main supplying vessels on the posterolateral femoral neck and the posterior acetabular wall in hyperextension and external rotation as a possible cause of direct vascular damage, and subsequent femoral head necrosis in three adolescent female gymnasts we are reporting on.

Methods

Outcome of hip-preserving head reduction osteotomy combined with periacetabular osteotomy was good in one and moderate in the other up to three years after surgery; based on the pronounced hip destruction, the third received initially a total hip arthroplasty.


Bone & Joint Open
Vol. 3, Issue 5 | Pages 404 - 414
9 May 2022
McGuire MF Vakulenko-Lagun B Millis MB Almakias R Cole EP Kim HKW

Aims

Perthes’ disease is an uncommon hip disorder with limited data on the long-term outcomes in adulthood. We partnered with community-based foundations and utilized web-based survey methodology to develop the Adult Perthes Survey, which includes demographics, childhood and adult Perthes’ disease history, the University of California Los Angeles (UCLA) Activity Scale item, Short Form-36, the Hip disability and Osteoarthritis Outcome Score, and a body pain diagram. Here we investigate the following questions: 1) what is the feasibility of obtaining > 1,000 survey responses from adults who had Perthes’ disease using a web-based platform?; and 2) what are the baseline characteristics and demographic composition of our sample?

Methods

The survey link was available publicly for 15 months and advertised among support groups. Of 1,505 participants who attempted the Adult Perthes survey, 1,182 completed it with a median timeframe of 11 minutes (IQR 8.633 to 14.72). Participants who dropped out were similar to those who completed the survey on several fixed variables. Participants represented 45 countries including the USA (n = 570; 48%), UK (n = 295; 25%), Australia (n = 133; 11%), and Canada (n = 46; 4%). Of the 1,182 respondents, 58% were female and the mean age was 39 years (SD 12.6).


Bone & Joint Open
Vol. 3, Issue 1 | Pages 85 - 92
27 Jan 2022
Loughenbury PR Tsirikos AI

The development of spinal deformity in children with underlying neurodisability can affect their ability to function and impact on their quality of life, as well as compromise provision of nursing care. Patients with neuromuscular spinal deformity are among the most challenging due to the number and complexity of medical comorbidities that increase the risk for severe intraoperative or postoperative complications. A multidisciplinary approach is mandatory at every stage to ensure that all nonoperative measures have been applied, and that the treatment goals have been clearly defined and agreed with the family. This will involve input from multiple specialities, including allied healthcare professionals, such as physiotherapists and wheelchair services. Surgery should be considered when there is significant impact on the patients’ quality of life, which is usually due to poor sitting balance, back or costo-pelvic pain, respiratory complications, or problems with self-care and feeding. Meticulous preoperative assessment is required, along with careful consideration of the nature of the deformity and the problems that it is causing. Surgery can achieve good curve correction and results in high levels of satisfaction from the patients and their caregivers. Modern modular posterior instrumentation systems allow an effective deformity correction. However, the risks of surgery remain high, and involvement of the family at all stages of decision-making is required in order to balance the risks and anticipated gains of the procedure, and to select those patients who can mostly benefit from spinal correction.


Bone & Joint Open
Vol. 1, Issue 12 | Pages 720 - 730
1 Dec 2020
Galloway AM van-Hille T Perry DC Holton C Mason L Richards S Siddle HJ Comer C

Aims

Perthes’ disease is a condition leading to necrosis of the femoral head. It is most common in children aged four to nine years, affecting around one per 1,200 children in the UK. Management typically includes non-surgical treatment options, such as physiotherapy with/without surgical intervention. However, there is significant variation in care with no consensus on the most effective treatment option.

Methods

This systematic review aims to evaluate the effectiveness of non-surgical interventions for the treatment of Perthes’ disease. Comparative studies (experimental or observational) of any non-surgical intervention compared directly with any alternative intervention (surgical, non-surgical or no intervention) were identified from: Cochrane Central Register of Controlled Trials, MEDLINE, EMBASE, the Cumulative Index to Nursing and Allied Health Literature (CINAHL), EMcare, Allied and Complementary Medicine Database (AMED), and the Physiotherapy Evidence Database (PEDro). Data were extracted on interventions compared and methodological quality. For post-intervention primary outcome of radiological scores (Stulberg and/or Mose), event rates for poor scores were calculated with significance values. Secondary outcomes included functional measures, such as range of movement, and patient-reported outcomes such as health-related quality of life.


Bone & Joint Open
Vol. 1, Issue 3 | Pages 19 - 28
3 Mar 2020
Tsirikos AI Roberts SB Bhatti E

Aims

Severe spinal deformity in growing patients often requires surgical management. We describe the incidence of spinal deformity surgery in a National Health Service.

Methods

Descriptive study of prospectively collected data. Clinical data of all patients undergoing surgery for spinal deformity between 2005 and 2018 was collected, compared to the demographics of the national population, and analyzed by underlying aetiology.


Bone & Joint Research
Vol. 8, Issue 8 | Pages 405 - 413
1 Aug 2019
Huang J Bao X Xia W Zhu L Zhang J Ma J Jiang N Yang J Chen Q Jing T Liu J Ma D Xu G

Objectives

X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. The main clinical manifestations of the disorder are O-shaped legs, X-shaped legs, delayed growth, and bone pain. XLHR is the most common inheritable form of rickets, with an incidence of 1/20 000 in humans. It accounts for approximately 80% of familial cases of hypophosphataemia and serves as the prototype of defective tubular phosphate (PO43+) transport, due to extra renal defects resulting in unregulated FGF23 activity. XLHR is caused by loss-of-function mutations in the PHEX gene. The aim of this research was to identify the genetic defect responsible for familial hypophosphataemic rickets in a four-generation Chinese Han pedigree and to analyze the function of this mutation.

Methods

The genome DNA samples of all members in the pedigree were extracted from whole blood. We sequenced all exons of the PHEX and FGF23 genes, as well as the adjacent splice site sequence with Sanger sequencing. Next, we analyzed the de novo mutation c.1692 del A of the PHEX gene with an online digital service and investigated the mutant PHEX with SWISS-MODEL, immunofluorescence, and protein stability detection.


Bone & Joint Research
Vol. 5, Issue 7 | Pages 301 - 306
1 Jul 2016
Madhuri V Santhanam M Rajagopal K Sugumar LK Balaji V

Objectives

To determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population.

Patients and Methods

A total of 15 patients with clinical features of PPD were enrolled in this study. Genomic DNA was isolated and polymerase chain reaction performed to amplify the WISP3 gene. Screening for mutations was done by conformation-sensitive gel electrophoresis, beginning with the fifth exon and subsequently proceeding to the remaining exons. Sanger sequencing was performed for both forward and reverse strands to confirm the mutations.


Bone & Joint 360
Vol. 2, Issue 2 | Pages 21 - 23
1 Apr 2013

The April 2013 Shoulder & Elbow Roundup360 looks at: biceps, pressure and instability; chronic acromio-clavicular joint instability; depression and shoulder pain; shoulder replacement and transfusion; cuff integrity and function; iatropathic plexus injury; the accuracy of acromio-clavicular joint injection; and tennis as a risk factor for tennis elbow.