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1.
Foot Ankle Surg ; 28(2): 181-185, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33722486

RESUMO

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.


Assuntos
Pé Torto Equinovaro , Moldes Cirúrgicos , Pé Torto Equinovaro/cirurgia , Feminino , Humanos , Lactente , Masculino , Modalidades de Fisioterapia , Amplitude de Movimento Articular , Resultado do Tratamento
2.
Rheumatology (Oxford) ; 61(9): 3693-3703, 2022 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-34919662

RESUMO

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.


Assuntos
Genu Varum , Artropatias , Proteínas de Sinalização Intercelular CCN , Criança , Pré-Escolar , Seguimentos , Humanos , Artropatias/congênito , Artropatias/diagnóstico , Artropatias/genética
3.
Foot Ankle Surg ; 27(4): 439-442, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32620389

RESUMO

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.


Assuntos
Tornozelo , Pé Torto Equinovaro/epidemiologia , Comparação Transcultural , , Qualidade de Vida , Inquéritos e Questionários , Traduções , Adolescente , Criança , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Turquia/epidemiologia
4.
Int Orthop ; 44(9): 1833-1840, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32377781

RESUMO

INTRODUCTION: There are not enough studies demonstrating the results of the modified Ponseti method on iatrogenic complex clubfoot that occurs due to errors during the application of the method for treating idiopathic clubfoot. The present study aimed to present the treatment results of the modified method reported by Ponseti for treating feet that became complex solely due to errors during casting. METHODS: Patients with the confirmed diagnosis of iatrogenic complex clubfoot were according to initial physicians' report and photographs were included in this retrospective case series study. Patients with congenital atypical feet, incomplete medical records, and accompanying pathologies were excluded from the study. Patients' clinical data and clinical scores were recorded at the initial visit and at the latest follow-up. RESULTS: There were 21 children (15 boys and 8 girls) with 32 complex clubfeet. Initial correction was achieved in all children, with an average of five serial casts (range 3 to 6 casts). At the last follow-up, ISGCF score of 25 feet (78.1%) was excellent and seven feet (21.9) was good. CONCLUSION: According to the results acquired from this study, an iatrogenic complex clubfoot can be successfully treated using the modified Ponseti method.


Assuntos
Pé Torto Equinovaro , Moldes Cirúrgicos/efeitos adversos , Criança , Pé Torto Equinovaro/terapia , Feminino , Humanos , Doença Iatrogênica , Lactente , Masculino , Manipulação Ortopédica , Estudos Retrospectivos , Resultado do Tratamento
5.
Am J Hum Genet ; 105(1): 132-150, 2019 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-31230720

RESUMO

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members.


Assuntos
Artrogripose/genética , Artrogripose/patologia , Variações do Número de Cópias de DNA , Marcadores Genéticos , Genômica/métodos , Herança Multifatorial/genética , Mutação , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Conectina/genética , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Mosaicismo , Linhagem , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Proteínas de Transporte Vesicular/genética , Sequenciamento do Exoma , Adulto Jovem
6.
J Orthop Sci ; 23(1): 117-121, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29021102

RESUMO

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.


Assuntos
Impacto Femoroacetabular/cirurgia , Osteoartrite/etiologia , Osteotomia/métodos , Amplitude de Movimento Articular/fisiologia , Adolescente , Adulto , Estudos de Coortes , Desbridamento/métodos , Feminino , Impacto Femoroacetabular/diagnóstico por imagem , Impacto Femoroacetabular/mortalidade , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Osteoartrite/diagnóstico por imagem , Osteotomia/efeitos adversos , Medição da Dor , Cuidados Pós-Operatórios/métodos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Prognóstico , Recuperação de Função Fisiológica , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Taxa de Sobrevida , Resultado do Tratamento , Adulto Jovem
7.
Acta Orthop Traumatol Turc ; 49(6): 620-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26511688

RESUMO

OBJECTIVE: The Ponseti method is an effective protocol for treatment of congenital idiopathic clubfoot. Foot abduction orthosis (FAO) is sometimes necessary to preserve the correction achieved with the serial casting and tenotomy. Patient and family adherence to brace use is a common problem, as nonadherence is directly related to relapse. The aim of this study was to investigate patient and parent characteristics related to relapse. METHODS: One hundred and fifty-three children who were treated with Ponseti method (mean age: 44.62 months; range: 16-104 months) and their parents were included in the study. Thirty-one patients experienced relapse at an average follow-up of 32 months (range: 6-84 months) since beginning orthosis use. At the time of follow-up visits, parents were questioned about brace use adherence. Satisfaction with Symptoms Scale in the American Academy of Orthopaedic Surgeons (AAOS) Pediatric Outcomes Data Collection Instrument (PODCI) was used. RESULTS: Difficulties with brace use were encountered in 122 children. Children of parents who were satisfied with the treatment had relapse at an average of 69.13±2.64 months, and those of parents who were not satisfied at 32.83±7.51 months. The most important variable was the child's adaptation to the orthosis treatment without an adverse reaction. Additionally, better compliance was found in children with higher-educated parents. CONCLUSION: Non-compliance with periods of intolerance is very common for children during orthosis treatment. Parents' coping strategies are very important to avoid relapses. It is important to develop strategies to guide parents.


Assuntos
Pé Torto Equinovaro/cirurgia , Órtoses do Pé/efeitos adversos , Poder Familiar , Cooperação do Paciente , Tenotomia/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Recidiva , Resultado do Tratamento
8.
Clin Orthop Relat Res ; 473(10): 3254-60, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25910777

RESUMO

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.


Assuntos
Articulação do Quadril , Instabilidade Articular/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Instabilidade Articular/etiologia , Região Lombossacral , Masculino , Meningomielocele/complicações , Músculo Esquelético/transplante , Procedimentos Ortopédicos/métodos , Estudos Retrospectivos
9.
Int Orthop ; 39(3): 485-90, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25417791

RESUMO

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.


Assuntos
Cabeça do Fêmur/cirurgia , Articulação do Quadril/cirurgia , Doença de Legg-Calve-Perthes/cirurgia , Osteotomia/métodos , Pelve/cirurgia , Adolescente , Criança , Feminino , Humanos , Masculino , Prognóstico , Resultado do Tratamento
10.
J Pediatr Orthop B ; 24(1): 6-10, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25229798

RESUMO

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.


Assuntos
Pé Torto Equinovaro/cirurgia , Pé/irrigação sanguínea , Procedimentos Ortopédicos/métodos , Artérias/diagnóstico por imagem , Artérias/crescimento & desenvolvimento , Velocidade do Fluxo Sanguíneo , Pé Torto Equinovaro/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Masculino , Fluxo Sanguíneo Regional , Artérias da Tíbia/fisiologia , Ultrassonografia
11.
Eklem Hastalik Cerrahisi ; 24(2): 96-101, 2013.
Artigo em Turco | MEDLINE | ID: mdl-23692197

RESUMO

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.


Assuntos
Acetábulo/cirurgia , Luxação Congênita de Quadril/cirurgia , Ossos Pélvicos/cirurgia , Acetábulo/diagnóstico por imagem , Adolescente , Adulto , Criança , Feminino , Luxação Congênita de Quadril/diagnóstico por imagem , Humanos , Masculino , Osteotomia , Ossos Pélvicos/diagnóstico por imagem , Radiografia , Estudos Retrospectivos , Resultado do Tratamento
12.
Eklem Hastalik Cerrahisi ; 23(2): 72-6, 2012.
Artigo em Turco | MEDLINE | ID: mdl-22765484

RESUMO

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.


Assuntos
Impacto Femoroacetabular/cirurgia , Adolescente , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/métodos , Recuperação de Função Fisiológica
14.
Acta Orthop Traumatol Turc ; 45(6): 437-45, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22245821

RESUMO

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.


Assuntos
Alongamento Ósseo , Fêmur/cirurgia , Articulação do Quadril/cirurgia , Instabilidade Articular/cirurgia , Osteotomia , Adolescente , Adulto , Artrite Infecciosa/complicações , Artroplastia de Quadril/efeitos adversos , Criança , Feminino , Luxação Congênita de Quadril/complicações , Humanos , Técnica de Ilizarov , Instabilidade Articular/etiologia , Masculino , Adulto Jovem
15.
Hip Int ; 20(4): 518-23, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21157758

RESUMO

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.


Assuntos
Luxação Congênita de Quadril/patologia , Articulação do Quadril/patologia , Instabilidade Articular/patologia , Osteotomia/métodos , Sepse/patologia , Atividades Cotidianas , Adolescente , Adulto , Feminino , Fêmur/cirurgia , Indicadores Básicos de Saúde , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/cirurgia , Articulação do Quadril/fisiopatologia , Articulação do Quadril/cirurgia , Humanos , Técnica de Ilizarov , Instabilidade Articular/etiologia , Instabilidade Articular/cirurgia , Masculino , Satisfação do Paciente , Amplitude de Movimento Articular , Sepse/complicações , Sepse/cirurgia , Resultado do Tratamento , Adulto Jovem
16.
Acta Orthop Belg ; 75(3): 428-30, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19681335

RESUMO

Scurvy is a rare disease occurring because of a nutritional deficiency of vitamin C. In the paediatric age group the disease is usually characterized by musculoskeletal manifestations. Treatment is straightforward and consists of vitamin C administration. However, if the patient is left untreated, scurvy may be life-threatening. We report here the case of a 16-month-old infant with scurvy. After proper treatment, the complaints disappeared in a very short time period and the boy grew up as a completely normal child during the 12 years follow-up. Nowadays only few physicians have experience with this disease, and ascorbic acid deficiency can thus easily be overlooked. With this paper we aimed to remind of the efficacy of vitamin C administration for patients with scurvy.


Assuntos
Ácido Ascórbico/uso terapêutico , Escorbuto/tratamento farmacológico , Vitaminas/uso terapêutico , Fêmur/diagnóstico por imagem , Humanos , Lactente , Masculino , Radiografia
17.
Cases J ; 2: 9367, 2009 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-20062612

RESUMO

INTRODUCTION: We assessed clinical and etiological association between vestibular pathology and idiopathic scoliosis concerning seven members of three families with idiopathic scoliosis. CASE PRESENTATION: The families were referred to neurotology center for evaluation of balance problems. Patients were evaluated thorough anamnesis to relevant vestibular and audiological studies in addition to idiopathic scoliosis assessment. All evaluated scoliotic patients had clinical manifestations of vestibular dysfunctions and migrainous headache. All of the scoliotic patients (seven patients) in these three families were diagnosed as migraine vestibulopathy. CONCLUSION: With the presentation of these three families, we discussed the probable role of the vestibular dysfunctions including migraine vestibulopathy in the development and progression of idiopathic scoliosis.

18.
Clin Orthop Relat Res ; 466(4): 837-46, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18335299

RESUMO

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.


Assuntos
Acetábulo/cirurgia , Cartilagem Articular/lesões , Luxação Congênita de Quadril/cirurgia , Articulação do Quadril/cirurgia , Osteotomia/métodos , Acetábulo/diagnóstico por imagem , Acetábulo/fisiopatologia , Adolescente , Fatores Etários , Artrografia , Cartilagem Articular/diagnóstico por imagem , Criança , Pré-Escolar , Necrose da Cabeça do Fêmur/etiologia , Necrose da Cabeça do Fêmur/prevenção & controle , Seguimentos , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/fisiopatologia , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/fisiopatologia , Humanos , Lactente , Osteotomia/efeitos adversos , Seleção de Pacientes , Amplitude de Movimento Articular , Recuperação de Função Fisiológica , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento
19.
Neurogenetics ; 9(2): 119-25, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18322713

RESUMO

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.


Assuntos
Efeito Fundador , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Mutação , Receptor trkA/genética , Sequência de Bases , Encéfalo/patologia , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Feminino , Haplótipos , Neuropatias Hereditárias Sensoriais e Autônomas/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Repetições de Microssatélites , Linhagem , Polimorfismo de Nucleotídeo Único , Turquia
20.
Arch Orthop Trauma Surg ; 126(1): 15-21, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16283342

RESUMO

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.


Assuntos
Moldes Cirúrgicos , Pé Torto Equinovaro/terapia , Manipulação Ortopédica/métodos , Pé Torto Equinovaro/patologia , Pé Torto Equinovaro/fisiopatologia , Terapia Combinada , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Amplitude de Movimento Articular , Resultado do Tratamento
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