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1.
JBJS Case Connect ; 13(1)2023 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-36870051

RESUMO

CASE: A 6-year-old boy sustained complete radial nerve palsy with a Gartland type III supracondylar humerus fracture (SCHF). Posteromedial displacement of the distal fragment was so severe that the tip of the proximal fragment protruded subcutaneously at the anterolateral aspect of the antecubital fossa. Immediate surgical exploration was performed to reveal radial nerve laceration. Neurorrhaphy after fixation of the fracture resulted in full recovery of radial nerve function 1 year postoperatively. CONCLUSIONS: Severe posteromedial displacement with complete radial nerve palsy may warrant acute surgical exploration even in a closed SCHF because primary neurorrhaphy may achieve better results than late reconstruction.


Assuntos
Fraturas do Úmero , Lacerações , Neuropatia Radial , Masculino , Humanos , Criança , Nervo Radial , Procedimentos Neurocirúrgicos
2.
Plast Reconstr Surg ; 152(1): 116e-125e, 2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-36780352

RESUMO

BACKGROUND: Surgical outcomes of duplicated thumbs differ depending on the branching type. The authors developed a new classification system and report surgical outcomes with an average 10.2-year follow-up. METHODS: A total of 529 patients with 562 duplicated thumbs were reviewed. Surgical anatomies were compared with radiographs, and then a new classification system was developed based on branching level and bone shape observed on the radiograph: distal type (D-type), including Wassel types I and II; proximal type (P-type), including Wassel types Ⅲ and Ⅳ, and four subdivisions (Po, Pa, Pb, and Pc) according to bone structure; and metacarpal type (MC-type), including Wassel types V and VI. All hands were assessed using the Japanese Society for Surgery of the Hand evaluation form, and factors causing poor outcomes were analyzed. RESULTS: There were 25% D-type, 59% P-type, and 14% MC-type hands; 2% of hands were not classified. Overall, 351 hands (63%) were directly assessed when patients reached 5 years of age. Seventeen percent of hands had fair results. Good results were achieved in 90% of D- and Po-type hands. Pa-, Pb-, Pc-, and MC-type hands had lower Japanese Society for Surgery of the Hand scores than did D- or Po-type hands. Pa- and Pb-type hands tended to develop interphalangeal joint malalignment and instability, whereas Pc- and MC-type hands developed disorders in the metacarpophalangeal joint with growth. CONCLUSIONS: The authors' new classification system clarifies the potential pitfalls for each type of duplicated thumb. More than 90% of D- and Po-type hands obtained good results. Care should be taken with interphalangeal joint reconstruction for Pa- and Pb-type hands. Meticulous reconstruction of the metacarpophalangeal joint is essential for Pc- and MC-type hands. This analysis provides important information for surgeons and patients. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, IV.


Assuntos
Deformidades da Mão , Procedimentos de Cirurgia Plástica , Polidactilia , Humanos , Polegar/cirurgia , Polidactilia/cirurgia , Chumbo , Deformidades da Mão/cirurgia , Resultado do Tratamento
3.
Hand (N Y) ; 18(2): NP1-NP5, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35723287

RESUMO

We report a case of an 11-year-old girl with bilateral severe Madelung deformity who underwent radial osteotomy with callus distraction. The distal radial articulation was corrected at surgery, and a unilateral fixator was subsequently used for callus distraction. No postoperative complication was noted. The patient did not need any additional surgeries for correction of the deformity. Forty-three months after surgery, the patient had a nearly full range of motion without any pain. Forearm deformity was not noticeable, except for surgical scar on both wrists.


Assuntos
Osteocondrodisplasias , Rádio (Anatomia) , Feminino , Humanos , Criança , Rádio (Anatomia)/cirurgia , Transtornos do Crescimento/cirurgia , Osteocondrodisplasias/cirurgia , Osteotomia
4.
JMA J ; 5(4): 471-479, 2022 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-36407072

RESUMO

Introduction: Efforts are being made to reduce doctors' working hours and implement reforms in the way doctors work. This study aims to determine the associations between depressive symptoms and work environment/lifestyle among <40-year-old male orthopedic physicians in Japan. Methods: Participants were 1,343 male orthopedic physicians selected from a survey (N = 25,139) of all regular members conducted in 2019 by the Japanese Orthopaedic Association. Participants completed the Quick Inventory of Depressive Symptomatology and provided information about total working hours, number of on-call/night duties, number of patient complaints received, smoking habits, exercise habits, and sleep time. Results: Of the participants, 6.6% had depressive symptoms. Factors associated with depressive symptoms were total working hours of ≥80 h per week (80-99 h: adjusted odds ratio [AOR] = 2.06; 95% confidence interval [CI], 1.02-4.18; ≥100 h: AOR = 3.89; 95% CI, 1.92-7.88), one or more unreasonable patient demands/complaints in the previous 6 months (AOR = 1.61; 95% CI, 1.00-2.60), current smoking (AOR = 2.98), no sweat-inducing exercise sessions of ≥30 min per week in the previous month (AOR = 2.50), and an average of <6 h of sleep per night in the previous month (AOR = 2.15). Conclusions: Work factors at the main medical institution (i.e., total working hours of ≥80 h per week) were associated with depressive symptoms. In addition, associations between depressive symptoms and unhealthy living conditions, such as smoking habits, lack of exercise, and <6 h of sleep per night, were observed.

5.
J Hand Surg Asian Pac Vol ; 26(2): 235-239, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33928851

RESUMO

Background: The induced membrane technique is now commonly used for large diaphyseal bone defects. Recently, several papers reported using the induced membrane technique for hand surgery. We applied this technique with some modifications to treat osteomyelitis of the phalanges. Methods: This study included six men and one woman with a mean age of 56 years. The causes of osteomyelitis included animal bite (n = 3), trauma (n = 3), and an indwelling needle (n = 1). Two-staged surgeries were performed, including an initial stage with radical debridement of the infected tissue and placement of a cement spacer into the bone defect. Four weeks after the first stage, a bone graft was performed. A bone block with cortex was harvested from the iliac crest or radius, and costal cartilage was used for proximal interphalangeal (PIP) joint arthroplasty in two cases. Grafted bones were fixed with a mini screw or an external fixator. Results: In all cases, the infection subsided, and bone union was obtained within two to three months. No absorption of the grafted bone was observed. In the two cases with PIP joint defect, joint motion without pain was preserved at 56° and 26°. Conclusions: A short interval between the two surgical stages of the induced membrane technique could be advantageous for patients in terms of time and financial burden and early rehabilitation of movement. Cortico-cancellous bone grafts were able to maintain bone length and stability with screw fixation. In the cases with PIP joint defects, instead of arthrodesis, we performed PIP arthroplasty using costal cartilage, eventually obtained some motion without pain. The induced membrane technique was useful and technically feasible for treating osteomyelitis in the hand, and secondary joint reconstruction was possible to obtain some motion.


Assuntos
Falanges dos Dedos da Mão/cirurgia , Regeneração Tecidual Guiada , Membranas , Osteomielite/cirurgia , Adulto , Idoso , Cartilagem/transplante , Desbridamento , Feminino , Humanos , Ílio/transplante , Masculino , Pessoa de Meia-Idade , Rádio (Anatomia)/transplante
6.
J Hand Microsurg ; 13(1): 42-48, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33707922

RESUMO

Japan has faced the most challenging times in the past. Through precise diligence by stalwarts and doyens of initial hand surgeons, it led an incredible path for the most significant moments of hand surgery. This article describes the early phase of development of Japanese Society for Surgery of the hand, substantial and innovative contributions from surgeons. A noteworthy and significant achievement in the hand surgery is microsurgery and its utilities for all hand-related diseases. The first replantation of the thumb, toe transfers and wrap-around flaps are the effective surgical techniques developed and imparted to the fellow hand surgeons worldwide. We had a particular interest in congenital hand surgery and developed a modification of congenital hand classifications and introduced many surgical techniques. Besides, we grew ourselves refining more in hand and microsurgery, innovating flexor tendon repair, peripheral nerve surgeries, wrist arthroscopy, joint replacements, external fixators, and implant arthroplasty for rheumatoid hand. We share our health care information, insurance working model and hand surgery training schedule in Japan.

7.
J Hand Surg Asian Pac Vol ; 26(1): 65-69, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33559565

RESUMO

Background: Although extension block pinning for mallet fracture is popular, it occasionally results in poor outcome. We reviewed previous cases to elucidate the factors associated with poor outcome. Methods: From 2012 to 2017, 50 mallet fingers in 50 patients were consecutively repaired by extension block pinning using modified Ishiguro method. Inserted Kirschner-wires (K-wires) were removed at 6 weeks, followed by night splinting in extension. For outcome evaluation, distal interphalangeal (DIP) joint motion was measured and classified as either good or poor. Poor outcome was defined as either > 10° of extension lag or < 40° of active flexion or the presence of DIP joint pain. Associations between outcome and age, affected finger, interval to operation, fragment size (in terms of joint surface and dorsal cortex ratios), and fixation angle were evaluated. Results: 33 fingers (66%) had good outcome and 17 (34%) had poor outcome. Mean age was significantly greater in the poor (50.6 years) than in the good (40.1 years) outcome group (p < 0.05). The dorsal cortex ratio was also significantly larger in the poor than in the good outcome group (p = 0.006), but there was no significant difference between two groups in joint surface ratio. Affected finger, interval to surgery, and fixation angle also did not significantly differ between groups. Conclusions: Fracture fragments with a long dorsal cortex and older age associated with poor outcome following extension block pinning for mallet finger. The dorsal cortex ratio should be evaluated pre-operatively to determine the appropriate treatment method.


Assuntos
Fios Ortopédicos , Traumatismos dos Dedos/cirurgia , Fixação Interna de Fraturas/métodos , Fratura Avulsão/cirurgia , Traumatismos dos Tendões/cirurgia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Deformidades Adquiridas da Mão/etiologia , Deformidades Adquiridas da Mão/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Contenções , Traumatismos dos Tendões/complicações , Adulto Jovem
8.
J Pediatr Orthop B ; 29(4): 403-408, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32044857

RESUMO

The functional dexterity test (FDT) is a timed pegboard test based on the manipulation of each peg and suitable for young children as it is both simple and quick to perform. We assessed the postoperative FDT values for children with Blauth type 2 hypoplastic thumbs after opponensplasty. We evaluated hand function using FDT for 12 hands of 11 patients with Blauth type 2 hypoplastic thumbs. Opponensplasty was performed in all hands following by Huber's procedure. All patients were evaluated from 6 to 12 months after surgery for hand function using three types of FDT scores: time in seconds to complete the test (FDT time), combined total time with penalty seconds added to the initial time (FDT total), and the number of pegs per second to complete the task as a percentage against normative values (FDT speed). We compared the postoperative FDT scores with those for Blauth type 1 or 2 hypoplastic thumb patients without surgical treatment. FDT time and FDT total for the patients postoperatively were both significantly shorter than those in the type 2 patients without surgical treatment. FDT speed was significantly higher than that for the patients without surgical treatment. There were no significant differences in the three FDT scores between the postoperative patients and the type 1 patients. There were several limitations including small sample size, large ranges of the data, and high number of variables. FDT reflected postopponensplasty improvement in hand dexterity in young children with Blauth type 2 hypoplastic thumb.


Assuntos
Artroplastia/métodos , Deformidades da Mão , Mãos , Polegar/anormalidades , Pré-Escolar , Feminino , Lateralidade Funcional/fisiologia , Mãos/patologia , Mãos/fisiopatologia , Deformidades da Mão/diagnóstico , Deformidades da Mão/fisiopatologia , Deformidades da Mão/cirurgia , Força da Mão/fisiologia , Humanos , Masculino , Destreza Motora/fisiologia , Recuperação de Função Fisiológica , Análise e Desempenho de Tarefas , Transferência Tendinosa/métodos , Polegar/fisiopatologia , Polegar/cirurgia , Resultado do Tratamento
9.
J Hand Microsurg ; 11(3): 175-177, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31814672

RESUMO

We previously reported the beneficial effects of tendon transfer to eliminate extension lag of the interphalangeal joints, using the extensor carpi radialis longus prolonged by palmaris longus tendon grafts after crushing-penetrating injuries around the metacarpophalangeal (MP) joint of the middle finger. We used the flexor digitorum superficialis (FDS) as the alternative donor muscle and treated two cases of severe crushing injuries to MP joint, and then obtained good outcomes.

10.
Eur J Hum Genet ; 27(12): 1845-1857, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31332306

RESUMO

Split-hand/foot malformation (SHFM) is a clinically and genetically heterogeneous condition. We sequentially performed screening of the previously identified Japanese founder 17p13.3 duplication/triplication involving BHLHA9, array comparative genomic hybridization, and whole exome sequencing (WES) in newly recruited 41 Japanese families with non-syndromic and syndromic SHFM. We also carried out WES in seven families with nonsyndromic and syndromic SHFM in which underlying genetic causes including pathogenic copy-number variants (CNVs) remained undetected in our previous studies of 56 families. Consequently, we identified not only known pathogenic CNVs (17p13.3 duplications/triplications [n = 21], 2q31 deletion [n = 1], and 10q24 duplications [n = 3]) and rare variants in known causative genes (TP63 [n = 3], DLX5 [n = 1], IGF2 [n = 1], WNT10B [n = 3], WNT10B/PORCN [n = 1], and PORCN [n = 1]), but also a de novo 19q13.11 deletion disrupting UBA2 (n = 1) and variants that probably affect function in LRP6 (n = 1) and UBA2 (n = 1). Thus, together with our previous data based on testing of 56 families, molecular studies for a total of 97 families with SHFM revealed underlying genetic causes in 75 families, and clinical studies for the 75 families indicated a certain degree of correlation between genetic causes and phenotypes. The results imply that SHFM primarily occurs as a genetic disorder with genotype-phenotype correlations. Furthermore, the results together with previous data such as the development of SHFM in Lrp6 knockout mice, the presence of SHFM in two subjects with 19q13 deletions involving UBA2, and strong mouse Uba2 expression in the developing limb buds, imply that LRP6 and UBA2 represent plausible candidate genes for SHFM.


Assuntos
Deformidades Congênitas da Mão/genética , Deformidades Congênitas dos Membros/genética , Proteína-6 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Enzimas Ativadoras de Ubiquitina/genética , Animais , Variações do Número de Cópias de DNA/genética , Feminino , Rearranjo Gênico/genética , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/patologia , Humanos , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/patologia , Masculino , Camundongos , Linhagem , Sequenciamento do Exoma
11.
Plast Reconstr Surg Glob Open ; 6(2): e1683, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29616176

RESUMO

BACKGROUND: Patients with Kirner's deformity often seek medical attention for aesthetic improvement when they reach the age of approximately 10 years, when the deformity becomes evident. The operative technique described in textbooks is the palmar opening-wedge with multiple osteotomies through a mid-lateral incision, which is technically demanding. The purpose of this article was to introduce our surgical technique of a single transverse osteotomy through a palmar approach and to present the short-term outcomes of this technique. METHODS: The surgical outcomes of 7 digits in 4 children were retrospectively reviewed. The deformed distal phalanx was approached with an oblique incision of the pulp, and the palmar cortex was incised at the apex of the curvature. The dorsal cortex was only partially incised and broken manually when correcting the deformity by a palmar opening-wedge. The dorsal aspect of the phalanx was not exposed, and the nail plate was left intact. The fragments were fixed with Kirschner wires. RESULTS: There was no postoperative complication, and the osteotomy sites all healed uneventfully. None of the patients complained about scar pain or hypersensitivity of the finger pulp. The patients and their parents were satisfied with the aesthetic results. CONCLUSIONS: A single palmar opening-wedge osteotomy at the apex sufficiently corrected the main curvature, and the subtle curvature remaining at the tip of the phalanx did not affect the appearance. This technique is simple and easy; therefore, it is recommended as a reliable procedure for patients with Kirner's deformity who are approaching puberty.

13.
J Pediatr Orthop B ; 26(5): 437-440, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27392299

RESUMO

Medial condyle fracture of the humerus is extremely rare in pediatric elbow fractures. We report a rare case of malunion of medial condyle fracture in a 10-year-old boy who had an injury on the right elbow at age 4. He was referred to our clinic because of severe varus deformity (the carrying angle was 191°, unaffected side 172°) with instability. Extra-articular closing wedge osteotomy was performed. Five years after surgery, the carrying angle was 172° and the patient had no pain and no difficulties with activities of daily living.


Assuntos
Fraturas Mal-Unidas/diagnóstico por imagem , Fraturas Mal-Unidas/cirurgia , Fraturas do Úmero/diagnóstico por imagem , Fraturas do Úmero/cirurgia , Criança , Humanos , Masculino
14.
J Orthop Sci ; 21(6): 759-765, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27519624

RESUMO

BACKGROUND: To evaluate the mid- to long-term clinical and radiographic outcomes after surgical treatment of chronic anterior dislocation of the radial head in children. METHODS: Open reduction was performed in 16 children (mean age, 9.3 years [range, 2.6-13.6 years]) with chronic anterior dislocation of the radial head. Twelve patients had a history of preceding injuries, with a mean interval between injury and surgery of 24 months (range, 2-86 months); 4 patients did not have injuries. Eight patients who had undergone reduction within 16 months were treated by open reduction and ulnar osteotomy. The other 8 patients who had not sustained trauma or had been injured >2 years previously required either annular ligament reconstruction or radial shortening in addition to ulnar osteotomy. RESULTS: The average preoperative Kim's elbow performance score was 77.2 ± 10.5, which significantly improved to 97.5 ± 5.8 at the final follow-up. The radial head was maintained in a reduced position in 14 patients and was subluxed in 2. Slight osteoarthritic changes of the elbow were observed in 2 patients with good reduction. The functional results were excellent in 15 and were good in 1 patient with an average follow-up of 6.5 years (range, 2.6-15.1 years). CONCLUSIONS: Our surgical procedure provided good mid- to long-term clinical and radiographic outcomes.


Assuntos
Lesões no Cotovelo , Luxações Articulares/cirurgia , Osteotomia/métodos , Rádio (Anatomia)/cirurgia , Amplitude de Movimento Articular/fisiologia , Adolescente , Criança , Pré-Escolar , Doença Crônica , Estudos de Coortes , Articulação do Cotovelo/diagnóstico por imagem , Articulação do Cotovelo/cirurgia , Feminino , Seguimentos , Humanos , Luxações Articulares/diagnóstico por imagem , Masculino , Procedimentos Ortopédicos/métodos , Medição da Dor , Rádio (Anatomia)/diagnóstico por imagem , Recuperação de Função Fisiológica , Estudos Retrospectivos , Medição de Risco , Fatores de Tempo , Resultado do Tratamento , Ulna/cirurgia
15.
J Pediatr Orthop B ; 25(5): 450-3, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26986030

RESUMO

Dislocation of the radial head is often encountered as a result of a pediatric Monteggia fracture. We report two rare cases of tardy ulnar nerve palsy associated with anterior radial head dislocation combined with anterior bowing of the ulna. They had cubitus valgus deformity, valgus instability, and osteoarthritis of the elbow, and had elbow injury more than 40 years back. They were diagnosed with chronic radial head dislocation long after a Bado type 1 Monteggia fracture. Anterior subcutaneous ulnar nerve transposition yielded favorable results. It is important to recognize the possibility of tardy ulnar nerve palsy caused by an improperly treated Monteggia fracture.


Assuntos
Articulação do Cotovelo/patologia , Luxações Articulares/patologia , Fratura de Monteggia/complicações , Nervo Ulnar , Neuropatias Ulnares/complicações , Idoso , Doenças do Desenvolvimento Ósseo/complicações , Criança , Pré-Escolar , Feminino , Traumatismos do Antebraço , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/patologia , Rádio (Anatomia) , Neuropatias Ulnares/etiologia
16.
J Pediatr Orthop B ; 25(3): 267-70, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26313505

RESUMO

Hereditary multiple exostoses (HME) generally involves the long tube bone or flat bone. Spinal involvement is rare, particularly in young children. We report two cases of children with HME who have myelopathy because of cervical spine involvement and then review the literature to clarify the clinical characteristics of spinal cord HME involvement in young children. In our cases and previously reported cases, neurological deficits remained in cases with acute onset, but other cases with slow onset showed almost complete recovery after surgery. This suggests that the assessment of spinal lesions before trauma is very important.


Assuntos
Exostose Múltipla Hereditária/complicações , Exostose Múltipla Hereditária/diagnóstico por imagem , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/etiologia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Medula Cervical/diagnóstico por imagem , Medula Cervical/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Criança , Exostose Múltipla Hereditária/cirurgia , Humanos , Masculino , Compressão da Medula Espinal/cirurgia , Neoplasias da Coluna Vertebral/cirurgia
17.
Hand (N Y) ; 10(2): 305-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26034449

RESUMO

Developmental anterior dislocation of the radial head resulting from a congenital solitary osteochondroma of the proximal ulna is an extremely rare condition. We present a case of a 4-year-old girl with this condition affecting her right elbow, which was treated by a trapezoidal shortening osteotomy at the radial neck following an oblique ulnar osteotomy with angulation and elongation after a complete resection of the tumor mass. The child remained asymptomatic with symmetric carrying angles during 2.5 years of follow-up post-surgery. We discuss the nature of this condition and review the literature.

18.
Hand Surg ; 20(2): 237-50, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26094485

RESUMO

The aim of this study is to introduce the classification of Swanson for congenital anomalies of upper limb modified by the Japanese Society for Surgery of the Hand (the JSSH modification) in English. The Swanson classification has been widely accepted by most hand surgeons. However, several authors have suggested that complex cases, particularly those involving the complex spectrum of cleft hand and symbrachydactyly, are difficult to classify into the classification schemes. In the JSSH modification, brachysyndactyly, so-called atypical cleft hand and transverse deficiency are included under the same concept of transverse deficiency. Cleft hand, central polydactyly, and syndactyly are included in the same category of abnormal induction of digital rays. We believe that the JSSH modification system is effective in providing hand surgeons with the clinical features and conditions for congenital anomalies.


Assuntos
Deformidades Congênitas da Mão/classificação , Deformidades Congênitas da Mão/cirurgia , Procedimentos Ortopédicos/métodos , Ortopedia , Sociedades Médicas , Humanos , Japão
19.
J Pediatr Orthop B ; 24(5): 408-11, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25919805

RESUMO

A fishtail deformity is a well-known complication following pediatric lateral condyle fracture of the humerus. We report a rare case of a medial humeral condyle fracture in a 12-year-old boy who had had a fishtail deformity because of a lateral condyle fracture in childhood. Radiographs showed a longitudinal fracture plane of the medial condyle extending to the articular surface, which is different from the three types of medial condyle fracture classified by Kilfoyle. We present our case and reviewed the literature to clarify the difference in the mechanism of medial humeral condyle fracture after a fishtail deformity.


Assuntos
Lesões no Cotovelo , Fraturas do Úmero/patologia , Úmero/lesões , Deformidades Articulares Adquiridas/etiologia , Criança , Humanos , Fraturas do Úmero/complicações , Masculino
20.
Orphanet J Rare Dis ; 9: 125, 2014 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-25351291

RESUMO

BACKGROUND: Limb malformations are rare disorders with high genetic heterogeneity. Although multiple genes/loci have been identified in limb malformations, underlying genetic factors still remain to be determined in most patients. METHODS: This study consisted of 51 Japanese families with split-hand/foot malformation (SHFM), SHFM with long bone deficiency (SHFLD) usually affecting the tibia, or Gollop-Wolfgang complex (GWC) characterized by SHFM and femoral bifurcation. Genetic studies included genomewide array comparative genomic hybridization and exome sequencing, together with standard molecular analyses. RESULTS: We identified duplications/triplications of a 210,050 bp segment containing BHLHA9 in 29 SHFM patients, 11 SHFLD patients, two GWC patients, and 22 clinically normal relatives from 27 of the 51 families examined, as well as in 2 of 1,000 Japanese controls. Families with SHFLD- and/or GWC-positive patients were more frequent in triplications than in duplications. The fusion point was identical in all the duplications/triplications and was associated with a 4 bp microhomology. There was no sequence homology around the two breakpoints, whereas rearrangement-associated motifs were abundant around one breakpoint. The rs3951819-D17S1174 haplotype patterns were variable on the duplicated/triplicated segments. No discernible genetic alteration specific to patients was detected within or around BHLHA9, in the known causative SHFM genes, or in the exome. CONCLUSIONS: These results indicate that BHLHA9 overdosage constitutes the most frequent susceptibility factor, with a dosage effect, for a range of limb malformations at least in Japan. Notably, this is the first study revealing the underlying genetic factor for the development of GWC, and demonstrating the presence of triplications involving BHLHA9. It is inferred that a Japanese founder duplication was generated through a replication-based mechanism and underwent subsequent triplication and haplotype modification through recombination-based mechanisms, and that the duplications/triplications with various haplotypes were widely spread in Japan primarily via clinically normal carriers and identified via manifesting patients. Furthermore, genotype-phenotype analyses of patients reported in this study and the previous studies imply that clinical variability is ascribed to multiple factors including the size of duplications/triplications as a critical factor.


Assuntos
Anormalidades Múltiplas/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fêmur/anormalidades , Deformidades Congênitas da Mão/genética , Deformidades Congênitas dos Membros/genética , Tíbia/anormalidades , Adulto , Povo Asiático , Duplicação Cromossômica , Hibridização Genômica Comparativa , Exoma , Feminino , Estudo de Associação Genômica Ampla , Deformidades Congênitas da Mão/complicações , Haplótipos , Humanos , Japão , Deformidades Congênitas dos Membros/complicações , Masculino , Adulto Jovem
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