Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.

OBJECTIVES: Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. This study aimed to describe the early signs and follow-up findings in 44 Turkish PPRD patients. METHODS: The patients with progressive stiffness of multiple joints, characteristic wide metaphysis of interphalangeal (IP) joints and platyspondyly were clinically diagnosed with PPRD. Fifteen patients who had first symptoms under 3 years of age were grouped as early-onset, while others were grouped as classical. CCN6 sequencing was performed in 43 patients. RESULTS: Thirteen pathogenic/likely pathogenic variants were identified, five were novel. c.156C>A(p.Cys52*) variant was found in 53.3% of the families. The initial symptom in the early-onset group was genu varum deformity, while it was widening of IP joints in the classical group. The median age of onset of symptoms and of diagnosis was 4 and 9.7 years, respectively. The mean follow-up duration was 5.6 years. The median age of onset of IP, elbow, knee and hip stiffness, which became progressive with growth was 5, 9, 9 and 12.2 years, respectively. Waddling gait occurred in 97.7% of the patients. A total of 47.7% lost independent walking ability at the median age of 12 years. In the early-onset group, waddling gait occurred earlier than in classical group (P < 0.001). Two patients had atypical presentation with late-onset and mild or lack of IP involvement. CONCLUSION: We observed that genu varum deformity before the age of 3 years was an early sign for PPRD and almost half of the patients lost walking ability at the median age of 12 years.

The effectiveness of three-phase physiotherapy program in children with clubfoot after Ponseti treatment.

BACKGROUNDS: Clubfoot is a foot disorder frequently seen. Although, there are several studies about the efficiency of physiotherapy in the treatment of clubfoot, physiotherapy programs may be more efficient if the treatment apply step by step similar to the logic of the serial casting progression of the involved foot. Therefore, the aim of this study was to determine the effectiveness of three-phase physiotherapy program in children with clubfoot. METHODS: Fifty-seven patients (37 males, 20 females; 7.26 ± 1.27 years) with clubfoot which had Ponseti treatment before were included. The ankle dorsiflexion (DF) and plantar flexion (PF) ranges of motion (ROM), one-leg standing time, sit-to-stand test, The Oxford Ankle Foot Questionnaire (OxAFQ) and treatment satisfaction were evaluated before and after treatment. A three-phase physiotherapy program was applied for 3 months. RESULTS: DF, PF, one-leg standing time, sit-to-stand test, treatment satisfaction and all parameters of OxAFQ except 'Emotional' parameter of OxAFQ-Children significantly improved after treatment (p < 0.05). CONCLUSIONS: The three-phase physiotherapy program increased the ankle range of motion, improved functional status and treatment satisfaction in children with clubfoot. The three-phase physiotherapy might be a reasonable treatment for clubfoot. Although, there is a need for long-term studies to understand its effects on preventing relapse.

Cross-cultural adaptation, validity and reliability of Turkish version of Oxford Ankle Foot Questionnaire for children with congenital talipes equinovarus.

BACKGROUND: The purpose of the study was to evaluate the reliability and validity of the Turkish version of the Oxford Ankle Foot Questionnaire (OxAFQ) to provide cultural adaptation. METHODS: This study involved translation, back translation, and cross-cultural adaptation. Forty-nine patients with congenital talipes equinovarus were evaluated using the Turkish version of OxAFQ. Turkish version of the Childhood Health Assessment Questionnaire (CHAQ) was used as a gold standard to validate the Turkish version of the OxAFQ. The validation was assessed with Spearman correlation analysis by using CHAQ. The reliability of the questionnaire was assessed with Cronbach alpha (internal consistency) and exploratory factor analysis. RESULTS: High validity was found between OxAFQ and CHAQ (r = -0.422-0.292) (p < 0.01). Reliability analysis showed that OxAFQ had a high level of Cronbach alpha (α = 0.88-0.96) and internal consistency (ICC = 0.90-0.96). CONCLUSION: The Turkish version of OxAFQ is a valid, reliable and useful quality of life questionnaire in patients with congenital talipes equinovarus and it is proper for use by health professionals and researchers.

Predictors of the clinical outcome and survival without degenerative arthritis after surgical treatment of femoroacetabular impingement.

BACKGROUND: The main purposes of the present study were to evaluate the functional improvement, to identify the predictors of the clinical outcome after open surgical management of femoroacetabular impingement (FAI) in mid-term, and to determine 5-year survival rate. METHODS: In this retrospective study, the clinical data of 33 patients (34 hips) were evaluated. Sex, age, body mass index (BMI), type of FAI, duration of symptoms up to surgical treatment, internal rotation of the affected hip, improvement of the Harris hip score (HHS) in the first 2 years, joint space narrowing evaluated radiographically and classified according to Kellgren-Lawrence classification, and any labral tear were the independent variables. Harris hip score and degenerative arthritic changes at the latest follow-up were identified as outcome measures. Univariate and multivariate analyses were performed. The mean post-operative follow-up was 6 years. RESULTS: Harris hip scores at the latest follow-up were significantly worse in patients with a pre-operative age >35 years, BMI ≥25 kg/m2, internal rotation of the hip ≤10°, grade 1 or 2 joint space narrowing, labral tear, and <15 points improvement of the HHS at the first 2 years follow-up. According to multivariate analysis; major predictors of the outcome were BMI, labral tear, and improvement of the HHS at the first 2 years. CONCLUSIONS: A pre-operative BMI ≥25 kg/m2, labral tear, and <20 points improvement of the HHS in the first 2 years of surgery should be considered as the major predictors of the clinical outcome after open surgical management of idiopathic FAI.

Surgical Treatment of Hip Instability in Patients With Lower Lumbar Level Myelomeningocele: Is Muscle Transfer Required?

BACKGROUND: Treatment of hip instability in patients with lower lumbar level myelomeningocele is clinically challenging. Muscle transfer procedures, release of contractures, and intertrochanteric varus-rotation osteotomies have been described to restore weak or absent abductor strength as well as relocation of the hip. However, controlled trials evaluating hip instability in lower lumbar myelomeningocele are limited in the current literature. QUESTIONS/PURPOSES: The purposes of this study were to compare the (1) radiographic evidence for joint stability; (2) clinical outcomes (including abductor strength, ambulatory ability, and residual use of orthoses); and (3) complications between patients undergoing combined periarticular contracture releases and bony procedures with and without external oblique abdominal muscle transfers. METHODS: Between 2004 and 2013, 14 pediatric patients (16 hips) were treated for hip instability secondary to myelomeningocele using releases with or without muscle transfer. From those, 13 patients (15 hips) with a mean age of 6 years who had L3 to L5 level involvement were evaluated retrospectively. The patients were separated into two groups. Nine hips (in eight patients) were treated by performing a combination of external oblique abdominal muscle transfer to the greater trochanter, periarticular release of contractures, and bony procedures. These were compared with six hips (five patients) treated by performing a combination of periarticular release of contractures and bony procedures without external oblique abdominal muscle transfer. This study compared the results between two surgeons, one of whom always performed these muscle transfers in this setting and the other who never performed muscle transfer during the study period. The patients were clinically followed up at a mean of 41 months (range, 14-122 months); none of the patients was lost to followup. Radiographic evaluation criteria included Reimer's migration index, acetabular index, femoral neck-shaft angle, pelvic obliquity, and the presence of scoliosis. Clinical evaluation included muscle strength examination, periarticular contractures, necessity for using orthoses as walking aids, and Hoffer criteria of mobility. All complications were also noted from a chart review. RESULTS: There were no differences between the two groups regarding postoperative femoral head localization, reflecting the presence or absence of residual subluxation, according to Reimer's index (Reimer's index = 32%; range, 10%-40%, in the muscle transfer group compared with 27%; range, 15%-43%, in the no-transfer group at latest followup; p = 0.723). Postoperatively, abductor strength improved in the group treated with external oblique transfer compared with the group treated without muscle transfer (median improvement of 2 versus 0, p = 0.02), but this improvement neither resulted in a clinically important difference in Hoffer criteria of mobility (no change was detected in either group) nor decreased the need for use of an orthosis (no change was detected in either group). With the numbers available, there was no difference with respect to complications between the two groups (two complications versus one). CONCLUSIONS: External oblique abdominal muscle transfer did not provide a clinically important improvement in functional recovery when compared with patients with L3 to L5 myelomeningocele and hip instability who were treated without it. We therefore do not recommend a routine muscle transfer procedure during the operative management of hip instability in patients with lower lumbar level myelomeningocele. LEVEL OF EVIDENCE: Level III, therapeutic study.

Tönnis triple pelvic osteotomy for Legg-Calve-Perthes disease.

PURPOSE: The aim of this study is to evaluate the efficacy of Tönnis triple pelvic osteotomy in patients with LCP disease. METHODS: Between 2007 and 2011, Tönnis triple pelvic osteotomy was performed for 43 patients with LCP, in our institute. During the follow-ups of patients with LCP the indications for the surgery were lateralization of the femoral head, insufficient femoral head coverage and subluxation of the femoral head. The mean age of patients at the time of surgery was 9.4 years. RESULTS: Before surgical intervention, according to Waldenstrom classification, three patients were in the necrosis stage (7 %), six patients in the fragmentation stage (13.9 %), 16 patients in the re-ossification stage (37.2 %) and 18 patients in the remodeling stage (41.9 %). According to Herring classification, four patients were in group B (9.3 %), one patient in group B/C (2.3 %) and 38 patients in group C (88.4 %). After the operation, patients were evaluated with Stulberg classification, and good outcome (Stulberg I/II) was achieved in 23 patients (53, 5 %), fair outcome (Stulberg III) in 16 patients (37, 2 %) and poor outcome (Stulberg IV/V) was seen in only four patients (9.3 %). The mean value of CEA was 0.37° pre-operatively and in the last follow-ups the mean value of CEA was 23.7°. CONCLUSIONS: We recommend triple pelvic osteotomy for patients with LCP when conservative methods are not successful. According to our results we believe that Waldenstrom classification is a better option than Herring classification to determine the prognosis of disease after containment surgery.

Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus?

In this study, we have evaluated the changes observed in the main arteries of the foot before and after the Ponseti technique. Arterial structures of seven patients were examined using Doppler ultrasound and the parameters studied included the course of the arteries, lumen filling, flow direction, pattern, and velocity. Before the treatment, the side with congenital talipes equinovarus deformity showed decreased blood flow in all arteries, except for the posterior tibial artery. At the second examination, the increase in the flow velocity of both arteries except tibialis anterior arteries was statistically significant. The Ponseti method results in normalization of the arterial structures in extremities with congenital talipes equinovarus.

[A comparison of short-term clinical and radiological results of Tönnis and Steel pelvic osteotomies in patients with acetabular dysplasia]. / Asetabuler displazili hastalarda Tönnis ve Steel osteotomilerinin kisa dönem klinik ve radyolojik sonuçlarinin karsilastirilmasi

OBJECTIVES: This study aims to compare short-term clinical and radiological results of adult patients with acetabular dysplasia undergoing Tönnis osteotomy or Steel triple pelvic osteotomy. PATIENTS AND METHODS: Between March 2003 and January 2010, clinical and radiologic results in 61 patients who were operated due to acetabular dysplasia at Baltalimani Bone and Joint Diseases Hospital were retrospectively analyzed. The patients were divided into two groups including those undergoing Tönnis osteotomy (Tönnis group) or Steel osteotomy (Steel group). For each patient, anteroposterior and false-profile radiographs of the pelvis were taken and anterior center edge (ACE), lateral center edge (LCE), Sharp angles and acetabular coverage were measured. The relationship between femoral head and acetabulum was assessed. Harris hip score was used for the clinical evaluation. RESULTS: According to the evaluation of the clinical and radiological results, postoperative scores were improved significantly in both groups, compared to preoperative scores (p<0.01). No statistically significant difference was found between the groups in terms of improvements in the radiological and clinical scores, except ACE angle (p<0.01). CONCLUSION: Our study results suggest that Tönnis and Steel osteotomies offer satisfactory short-term results in the surgical treatment of adult patients with mild to moderate dysplasia.

[Is open surgery effective in early-term in patients with femoroacetabular impingement syndrome?]. / Femoroasetabuler sikisma sendromlu hastalarda açik cerrahi tedavi erken dönemde etkili midir?

OBJECTIVES: In this study, we aimed to evaluate the efficacy of open surgical treatment including safe femoral head dislocation, femoral neck osteochondroplasty and labral repair in early-term following surgery. PATIENTS AND METHODS: Between April 2006 and January 2010, 22 hips of 22 patients (13 males, 9 females; mean age 33.3 years; range 17 to 52 years) who underwent open surgical treatment due to femoroacetabular impingement syndrome (FAIS) were retrospectively analyzed. Thirteen of the patients had bilateral and nine patients had unilateral FAIS. The mean follow-up was 27.5 months (range, 6-51 months). The functional evaluation of the patients was performed using Harris hip score both pre- and postoperatively after union was achieved in the trochanteric osteotomy site. RESULTS: The mean preoperative Harris score was 54.3, increasing to 70.6 postoperatively. The mean internal rotation of hip, which was 10.5 degrees preoperatively, increased to 15.2 degrees postoperatively. With regard to the patient satisfaction, 18 of 22 patients reported that they were satisfied with the surgical treatment. CONCLUSION: Our study results showed that we concluded that safe hip dislocation and open osteochondroplasty of femoral head is an effective method in the treatment of FAIS, originating from different etiological factors.

An effective treatment for hip instabilities: pelvic support osteotomy and femoral lengthening.

OBJECTIVE: In this study, we evaluated the effectiveness of pelvic support osteotomy treatment in hip instabilities due to various etiologies. METHODS: We retrospectively evaluated 21 hips of 20 patients that underwent pelvic support osteotomy between 2005 and 2007. Hip instability was caused by a neglected congenital dislocation of the hip in 12 of the patients (13 hips), by septic arthritis in 7 and by an unsuccessful total hip arthroplasty due to infection in the last patient. The mean age of the patients was 22.6 (range: 12 to 34) years. Osteotomy sites were fixed using monolateral external fixators in 11 patients, Ilizarov circular fixators in 8, and locking plates for both hips of the remaining patient. The mean follow-up period was 33.45 (range: 16 to 45) months. RESULTS: The mean Harris score increased from 48.3 preoperatively to 80.1 postoperatively. Preoperative mean limb length discrepancy was 53.3 mm and mean proximal migration was 42.9 mm. Residual limb length discrepancy was reduced to 16 mm after an average lengthening of 63.3. The preoperative Trendelenburg gait disappeared completely in 13 of 21 hips and was improved in 8 hips. Sixteen of the 20 patients (17 hips) expressed satisfaction with the operation. CONCLUSION: Pelvic support osteotomy is a good treatment option to overcome hip instability as it improves pain and equalizes limb length.

The influence of aetiology of hip instability on the results of pelvic support osteotomy.

Pelvic support osteotomy and femoral lengthening are sometimes employed in cases of hip instability. We assessed the efficacy of surgery following sepsis and congenital dislocation in relation to functional results. Between March 2005 and May 2007 we performed pelvic support osteotomy and femoral lengthening for 21 hips in 20 patients. Preceding pathology included congenital dislocation in 13 hips (12 patients) and sequelae of sepsis in 8 hips. All surgical procedures were performed as described by Ilizarov. The mean follow-up period was 33.5 months. There was no significant difference between the final Harris Hip Scores of the 2 groups. The number of patients with persisting abductor weakness was similar between the 2 groups. Complications were more frequent following congenital dislocation, and additional physiotherapy to restore knee motion was required in almost half of these. Patient satisfaction was higher in cases with sequelae of sepsis.

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat glands, and delayed mental and motor development. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1), a receptor in the neurotrophin signaling pathway phosphorylated in response to nerve growth factor, are associated with this disorder. We identified six families from Northern Central Turkey with HSAN IV. We screened the NTRK1 gene for mutations in these families. Microsatellite and single nucleotide polymorphism (SNP) markers on the Affymetrix 250K chip platform were used to determine the haplotypes for three families harboring the same mutation. Screening for mutations in the NTRK1 gene demonstrated one novel frameshift mutation, two novel nonsense mutations, and three unrelated kindreds with the same splice-site mutation. Genotyping of the three families with the identical splice-site mutation revealed that they share the same haplotype. This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population.

How are outcomes affected by combining the Pemberton and Salter osteotomies?

UNLABELLED: The Pembersal operation combines features of the Pemberton and Salter osteotomies. Results have usually been reported in patients with dysplasia but without frank dislocation. We asked if the following factors influence the outcome of the Pembersal operation in patients with dislocated hips: triradiate cartilage damage causing early closure; the acetabular index improvement; and the age of the patient at time of operation. We assessed triradiate cartilage damage, a modified McKay clinical classification, acetabular index, center-edge angles, Reimers index, acetabular depth-to-width ratios, Severin classification and Tönnis grading of 33 patients (44 hips) have been evaluated in this retrospective study. The mean age at surgery was 5 years (range, 1.5-14 years). The minimum followup was 5 years (mean, 10.5 years; range, 5-17 years). Preoperatively, three (7%) hips were Tönnis Grade 2, 10 (23%) were Grade 3, and 31 (70%) were Grade 4. Eight (18%) hips were Severin Class 1, 32 (73%) Class 2, and four (9%) were Class 3. According to McKay's criteria satisfactory results with a rate of 76% were obtained. Premature closure of the triradiate cartilage occurred in eight (18%) hips and postoperative avascular necrosis of the femoral head in three (6%) hips. Satisfactory clinical and radiographic improvements in the aforementioned parameters can be obtained by Pembersal osteotomy. LEVEL OF EVIDENCE: Level IV, therapeutic case series. See the Guidelines for Authors for a complete description of levels of evidence.

Ponseti technique for the correction of idiopathic clubfeet presenting up to 1 year of age. A preliminary study in children with untreated or complex deformities.

INTRODUCTION: The aim of this study is to evaluate the effectiveness of the Ponseti method in children presenting before 1 year of age with either untreated or complex (initially treated unsuccessfully by other conservative methods) idiopathic clubfeet. PATIENTS AND METHODS: The authors report 134 feet of 92 patients with Dimeglio grade 2, 3, or 4 deformities treated with the Ponseti method. Twenty-four percent of feet were of complex deformities at initial presentation to the authors' clinics. RESULTS: At a mean follow-up of 46 months (range 24-89) we avoided joint release surgery in 97% of feet. Sixty-seven percent required a percutaneous tenotomy of the Achilles tendon. Relapse rate was 31% (41 feet). We treated 2 relapses by restarting the use of orthosis, 17 with re-casting, 18 with anterior tibial tendon transfer following a second relapse, and 4 feet with extensive joint surgery. Compliance with the use of orthosis was identified as the most important risk factor (P<0.0001) for relapses. Previous unsuccessful treatment attempts by other conservative methods did not adversely affect the results unless the cases had iatrogenic deformities. Cases with iatrogenic deformities from previous treatment had a significantly increased risk of non-compliance and relapse. Experience of the treating surgeon and cast complications were also related to relapses. CONCLUSION: Our results show that the Ponseti technique is reproducible and effective in children at least up to 12 months of age. It can also produce good correction in children presenting with complex idiopathic deformities. Therefore, extensive joint releases should not be considered immediately in such cases. The treating surgeon should be meticulous in using the technique and ensure compliance to foot abduction brace in order to avoid recurrences.