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1.
Int Orthop ; 48(4): 1049-1055, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38146004

RESUMO

PURPOSE: Accessory ossicles are caused by the failure of the fusion of secondary ossification centres and are more likely to occur due to heavy loading during the growth period or improper treatment after injury. This study aimed to investigate the incidence of foot and ankle accessory ossicles in male professional soccer players. METHODS: This study included male professional soccer players who underwent medical checkups at our hospital between 2017 and 2023 as the soccer group. Medical checkups included radiographs of bilateral anteroposterior and oblique foot, as well as bilateral anteroposterior and lateral ankle. Male patients age-matched with the soccer group who visited our hospital undergoing anteroposterior and oblique foot or anteroposterior and lateral ankle radiography were included in the control group. The incidence of accessory ossicles was investigated and compared between the soccer and control groups. RESULTS: In this study, 276 ankles and 276 feet, as well as 121 ankles and 79 feet, were included in the soccer and control groups, respectively. The incidence of accessory ossicles in the soccer and control groups was as follows: accessory navicular 35.9%, 24% (P = .049), os peroneum 8.0%, 2.5% (P = .09); os supranaviculare 7.6%, 1.3% (P = .039); os infranaviculare 1.4%, 1.3% (P = .090); os calcaneus secundarius 4.3%, 0% (P = .059); os vesalianum 0%, 0%; os subfiblare 12.7%, 2.5% (P < .001); os subtibiale 18.1%, 2.5% (P = .001); and os trigonum 89%, 24% (P < .001). CONCLUSIONS: Male professional soccer players had a higher incidence of accessory navicular, os supranaviculare, os subfiblare, os subtibiale, and os trigonum.


Assuntos
Doenças do Pé , Futebol , Tálus , Ossos do Tarso/anormalidades , Humanos , Masculino , Tornozelo/diagnóstico por imagem , Incidência , Extremidade Inferior
2.
Ann Saudi Med ; 42(5): 327-333, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36252147

RESUMO

BACKGROUND: The accessory navicular bone (ANB) is one of the most common accessory bones in the foot. Certain pathologies, such as posterior tibial tendon insufficiency are associated with ANB, and should be differentiated from midfoot and hindfoot fractures such as navicular tuberosity avulsion fractures. There are few studies addressing the prevalence and types of ANB in Saudi Arabia. OBJECTIVES: Determine the prevalence and morphological variations of ANB and its relation with age and sex in patients visiting foot and ankle clinics. DESIGN: Medical record review SETTING: Orthopedic foot and ankle clinic at a university hospital. PATIENTS AND METHODS: The presence of ANB was retrospectively analyzed in radiographs from patients who presented to the orthopedic foot and ankle at our university hospital from February 2010 to December 2020. The patients were stratified according to sex, age, and diagnosis. For each ANB, recorded information included site, size, classification, subtypes, and symptomatology. Purposive sampling was used to select the patients for the study (non-probability sampling). MAIN OUTCOME MEASURES: Prevalence of ANB in patients attending a foot and ankle clinic. SAMPLE SIZE: 117 patients and 194 feet. RESULTS: ANB was analyzed in 1006 radiographs from 503 patients. ANB was detected in 117 (23.3%) patients and 194 (19.3%) feet Prevalence was significantly higher in females (67.5%) than in males (32.5%) (Z=5.359, P<.001). The ages ranged from 19 to 86 years, with a mean age of 48.26 (14.5) years. The most common site was bilateral (77 patients, 65.8 %). Type I was the most common type, with a prevalence of 42.1%. There were no significant differences in types in relation to sex, but all types and subtypes differed significantly from each other. CONCLUSION: ANB was common among patients presenting to the foot and ankle clinic, with an overall prevalence of 23.3%. It should be considered among the differential diagnosis in chronic foot pain, and should be differentiated from midfoot and hindfoot fractures. Further studies with a larger, randomized sample are needed, for more accuracy and to confirm the reported results. LIMITATIONS: Retrospective chart review, non-probability sampling, and use of plain radiographs. CONFLICT OF INTEREST: None.


Assuntos
Ossos do Tarso , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Doenças do Pé , Humanos , Masculino , Registros Médicos , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Ossos do Tarso/anormalidades , Ossos do Tarso/diagnóstico por imagem , Adulto Jovem
3.
BMC Pediatr ; 22(1): 528, 2022 09 05.
Artigo em Inglês | MEDLINE | ID: mdl-36064339

RESUMO

BACKGROUND: Brachydactyly type B is an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails and can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is the most severe form of brachydactyly and is caused by truncating variants in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) gene. CASE PRESENTATION: Here, we report a five-generation Chinese family with brachydactyly with or without syndactyly. The proband and her mother underwent digital separation in syndactyly, and the genetic analyses of the proband and her parents were provided. The novel heterozygous frameshift variant c.1320dupG, p.(Arg441Alafs*18) in the ROR2 gene was identified in the affected individuals by whole-exome sequencing and Sanger sequencing. The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein. CONCLUSION: The c.1320dupG, p.(Arg441Alafs*18) variant in the ROR2 gene has not been reported in any databases thus far and therefore is novel. Our study extends the gene variant spectrum of brachydactyly and may provide information for the genetic counselling of family members.


Assuntos
Braquidactilia , Sindactilia , Braquidactilia/diagnóstico , Braquidactilia/genética , Ossos do Carpo/anormalidades , Feminino , Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , Humanos , Linhagem , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/metabolismo , Estribo/anormalidades , Sinostose , Ossos do Tarso/anormalidades
4.
Artigo em Inglês | MEDLINE | ID: mdl-35797231

RESUMO

The accessory navicular bone (ANB) is one of the most common accessory ossicles of the foot. Fewer than 1% of ANBs are symptomatic, and most of the symptomatic ANBs are type II ANBs. Avascular necrosis of the type II ANB is an uncommon cause of symptomatic accessory navicular syndrome and also a rarely reported condition in the podiatric medical literature. This rare disorder must be distinguished from other painful conditions of the ANB and should be considered in differential diagnoses. We present a case of avascular necrosis of the type II ANB with sclerosis on radiographs and magnetic resonance images in a 46-year-old woman.


Assuntos
Doenças do Pé , Ossos do Tarso , Feminino , Doenças do Pé/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Necrose , Radiografia , Ossos do Tarso/anormalidades , Ossos do Tarso/diagnóstico por imagem
5.
J Pediatr Orthop ; 42(6): e612-e615, 2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-35667053

RESUMO

BACKGROUND: The size of talocalcaneal tarsal coalitions (TCCs) is one of the main factors that is thought to influence patient outcomes after resection. Magnetic resonance imaging (MRI) is increasingly being used to diagnose and characterize TCCs. However, there is no reproducible MRI-based measurement of TCC size reported in the literature. The purpose of this study was to create a method to reproducibly measure TCC size using MRI. METHODS: Twenty-seven patients with TCCs diagnosed by a hindfoot coronal proton density (PD) MRI between 2017 and 2020 were included. Five independent raters measured coalition width, healthy posterior facet width, and healthy middle facet width on individual slices of coronal PD hindfoot MRIs using discrete MRI measurement guidelines. Individual slice measurements were summed to determine total size of the coalition and the remaining healthy cartilage of the posterior and middle facets. Inter-rater reliability of MRI measurements between the 5 independent examiners was evaluated using intraclass correlation coefficient (ICC). ICC was calculated for total coalition width, total healthy posterior facet width, total coalition width/total healthy posterior facet width, total coalition width/total healthy middle facet width, total coalition width/total healthy subtalar facet width (posterior facet+middle facet), and total coalition width/total subtalar facet width (coalition+posterior facet+middle facet). RESULTS: The ICC scores for all but one of the MRI measurements indicated good to excellent inter-rater reliability among the 5 examiners. The ICC was 0.932 (95% confidence interval: 0.881-0.966) for measurement of total coalition width/total healthy posterior facet width and 0.948 (95% confidence interval: 0.908-0.973) for measurement of total coalition width/total subtalar facet width (middle+posterior+coalition). CONCLUSIONS: Measurements of coalition size using novel MRI guidelines were reproducible with good to excellent inter-rater reliability. These guidelines allow for determination of TCC size using coronal PD MRI. LEVEL OF EVIDENCE: Level II-diagnostic reproducibility study.


Assuntos
Articulação Talocalcânea , Sinostose , Coalizão Tarsal , Ossos do Carpo/anormalidades , Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , Humanos , Imageamento por Ressonância Magnética/métodos , Reprodutibilidade dos Testes , Estribo/anormalidades , Articulação Talocalcânea/diagnóstico por imagem , Articulação Talocalcânea/cirurgia , Ossos do Tarso/anormalidades , Coalizão Tarsal/diagnóstico por imagem
6.
J Pediatr Orthop ; 42(5): e448-e452, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35405728

RESUMO

BACKGROUND: This paper aims to report on the last 5 years of relevant research on pediatric foot and ankle pathology with specific focus on clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans. METHODS: The Browzine platform was used to review the table of contents for all papers published in the following target journals related to the treatment of pediatric foot and ankle conditions. Search results were further refined to include clinical trials and randomized controlled trials published from March 1, 2015 to November 15, 2021. RESULTS: A total of 73 papers were selected for review based on new findings and significant contributions in treatment of clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans. Also included were several papers that did not fit into any of these categories but provided new insight into specific foot and ankle pathologies. CONCLUSIONS: Treatment strategies for children with foot and ankle pathology are continually evolving. We review many of the most recent publications with the goal of improving understanding of these pathologies and highlighting current best practices. LEVEL OF EVIDENCE: Level III.


Assuntos
Pé Torto Equinovaro , Pé Chato , Osteocondrite Dissecante , Coalizão Tarsal , Tornozelo , Criança , Doenças do Pé , Humanos , Ossos do Tarso/anormalidades
7.
Foot Ankle Surg ; 28(7): 1110-1119, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35397990

RESUMO

BACKGROUND: The primary aim was to determine the clinical success rate after treatment for talocalcaneal (TCC) and calcaneonavicular coalitions (CNC). The secondary aim was to evaluate the complication, recurrence and revision rate. METHODS: A search was carried out in MEDLINE, EMBASE and Cochrane Library. Methodological quality was assessed using the Methodological Index for Non-Randomised Studies (MINORS) criteria. The primary outcome was the clinical success rate and was pooled per type of coalition and treatment modality. 95% Confidence Intervals (CI) of the success rates were calculated. Secondary outcomes included complication rates, coalition recurrence rates, revision rates and pain improvement using the Visual Analogue Scale (VAS). A sub-analysis on interposition material was performed. RESULTS: 43 articles comprising of 1284 coalitions were included, with a pooled mean follow-up of 51 months. Methodological quality was fair. The overall pooled success rate for TCCs was 79% (95% CI, 75%-83%). Conservative treatment, open resection and arthroscopic resection of TCCs resulted in success rates of 58% (95% CI, 42%-73%), 80% (95% CI, 76%-84%) and 86% (95% CI, 71%-94%), respectively. CNCs have an overall success rate of 81% (95% CI, 75%-85%), with 100% (95% CI, 34%-100%), 80% (95% CI, 74%-85%) and 100% (95% CI, 65%-100%) for conservative treatment, open resection and arthroscopic resection, respectively. Pooled complication rates of 4% (95% CI, 3%-7%) for TCCs and 6% (95% CI, 4%-11%) for CNCs were found. The success rates of resection with and without interposition material for TCCs were 83% (95% CI, 78%-87%) and 79% (95% CI, 65%-88%), and for CNCs 81% (95% CI, 76%-86%) and 69% (95% CI, 44%-85%), respectively. CONCLUSION: Treatment of tarsal coalitions can be considered good to excellent as well as safe, with an overall clinical success rate of 79% for TCCs and 81% for CNCs. Arthroscopic resection of the coalition appears to be non-inferior to open resection of TCCs and CNCs. LEVEL OF EVIDENCE: Level IV, Systematic Review.


Assuntos
Deformidades Congênitas do Pé , Sinostose , Ossos do Tarso , Coalizão Tarsal , Ossos do Carpo/anormalidades , Deformidades Congênitas do Pé/cirurgia , Deformidades Congênitas da Mão , Humanos , Estribo/anormalidades , Sinostose/cirurgia , Ossos do Tarso/anormalidades , Ossos do Tarso/cirurgia , Coalizão Tarsal/cirurgia
8.
Mol Genet Genomic Med ; 10(5): e1933, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35332702

RESUMO

OBJECTIVE: Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high-throughput sequencing approach. METHODS: The medical history investigation, physical examination, imaging examination, and audiological examination of the family members were performed. DNA samples were extracted from the family members. The candidate variant was identified by performing whole-exome sequencing of the proband, then verified by Sanger sequencing in the family. RESULTS: The family named HBSY-018 from Hubei province had 18 subjects in three generations, and six subjects were diagnosed with conductive or mixed hearing loss. Meanwhile, characteristic features including short philtrum, hemicylindrical nose, and hypoplastic alae nasi were noticed among those patients. Symptoms of proximal interdigital joint adhesion and inflexibility were found. The family was diagnosed as Multiple synostoses syndrome type 1 (SYNS1).The inheritance pattern of this family was autosomal dominant. A novel mutation in the NOG gene c.533G>A was identified by performing whole-exome sequencing of the proband. The substitution of cysteine encoding 178th position with tyrosine (p.Cys178Tyr) was caused by this mutation, which was conserved across species. Co-segregation of disease phenotypes was demonstrated by the family verification. CONCLUSION: The family diagnosed as SYNS1 was caused by the novel mutation (c.533G>A) of NOG. The combination of clinical diagnosis and molecular diagnosis had improved the understanding of this rare disease and provided a scientific basis for genetic counseling in the family.


Assuntos
Deformidades Congênitas do Pé , Sinostose , Ossos do Carpo/anormalidades , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão , Humanos , Mutação , Linhagem , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades
9.
Foot (Edinb) ; 50: 101886, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35219130

RESUMO

PURPOSE: To determine how often os trigonum is accompanied by accessory navicular and os peroneum. A secondary aim of the study was to investigate the bone and related tendon pathologies that may develop in these three accessory bones. MATERIALS AND METHODS: A total of 110 patients who were evaluated by ankle MRI and were determined with os trigonum between 2009-2015 were included in the study. The frequency was determined of os trigonum together with accessory navicular bone and os peroneum. MR images were also evaluated in respect of bone pathologies and related tendon pathologies of these 3 accessory bones. RESULTS: Of 110 patients determined with os trigonum on MRI, 21 (19%) were also determined with accessory navicular bone and 5 (4.5%) with os peroneum.When bone pathologies were examined, the most frequently seen pathology was bone marrow edema.The most common pathology in the tendons related to the accessory bones was increased amount of synovial fluid within the tendon sheath. In cases with os trigonum, bone changes were observed more frequently than pathologies of the adjacent tendons, in the accessory navicular bone cases, tendon pathologies were observed more than bone changes and in the cases with os peroneum, bone and tendon pathologies were determined at equal rates.There was no significant difference in terms of FHL tendon pathology between patients with and without edema in os trigonum. However, TP tendon was significantly more pathological in patients with edema in accessory navicular bone. CONCLUSION: More than one accessory bone was determined in approximately one in four cases.The most common pathologies determined in these accessory bones was bone marrow edema and increased amount of synovial fluid within the tendon sheath.It is necessary to investigate and report all these findings on MRI as they play an important role in the explanation of clinical findings and treatment planning.


Assuntos
Doenças do Pé , Tálus , Ossos do Tarso , Tornozelo , Doenças do Pé/diagnóstico por imagem , Humanos , Ossos do Tarso/anormalidades , Ossos do Tarso/diagnóstico por imagem , Tendões/diagnóstico por imagem
10.
Clin J Sport Med ; 32(3): e308-e312, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33852436

RESUMO

OBJECTIVE: Identifying the risk factors for persistent pain despite proper conservative treatment in adult symptomatic accessory navicular may reduce the need for surgical treatment. The aim of this study was to identify any such risk factors. DESIGN: Cohort study. SETTING: University hospital foot and ankle clinic. PATIENTS: A retrospective review of 313 patients who presented with adult symptomatic accessory navicular was performed. ASSESSMENT OF RISK FACTORS: Potential risk factors were identified via medical records and foot radiographs. The possible risk factors included age, gender, body mass index, smoking status, occurrence/cause of symptoms, occupation, type of accessory navicular, and radiographic foot parameters. MAIN OUTCOME MEASURES: Predictors that relate to persistent pain requiring surgical treatment in adult accessory navicular were analyzed using logistic regression analysis. RESULTS: Of the 313 patients included, 30 (9.6%) underwent surgical treatment due to failure of conservative treatment. The odds of needing surgical treatment decreased by 0.96 per year of age at symptom onset (P = 0.030), but those odds were 8.52 times higher in patients who had a type IIB accessory navicular (P = 0.001). Other variables did not reach statistical significance. CONCLUSIONS: Younger age at symptom onset and type IIB were the risk factors for persistent pain requiring surgical treatment in adult symptomatic accessory navicular.


Assuntos
Ossos do Tarso , Adulto , Estudos de Coortes , Doenças do Pé , Humanos , Dor/etiologia , Fatores de Risco , Ossos do Tarso/anormalidades , Ossos do Tarso/diagnóstico por imagem , Ossos do Tarso/cirurgia
11.
An. Facultad Med. (Univ. Repúb. Urug., En línea) ; 8(2): e404, dic. 2021. ilus, tab
Artigo em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1358061

RESUMO

El conjunto de patologías bajo el nombre de síndromes dolorosos de pie y tobillo engloban diferentes tendinopatías asociadas entre varios factores clínicos a la presencia de huesos accesorios tarsianos. La correcta identificación y diferenciación radiológica de estas variantes anatómicas en virtud de su capacidad de influir en la dinámica normal del tarso motivan el estudio de su incidencia. Nuestro objetivo es determinar la presencia de distintos huesos accesorios tarsianos en una muestra poblacional. Se expone el resultado de un estudio observacional retrospectivo en 240 pacientes entre 15 y 85 años de edad atendidos en un centro privado de la ciudad de Las Piedras, Canelones, con radiografías de pie y tobillo preexistentes en la base de datos institucional. Se determinó presencia de huesos accesorios tarsianos en 23 pacientes (9,58%), identificando hallazgos de Os Trigonum (1,66%), Proceso de Stieda (3.33%), Os Peroneum (2,93%) y Os Navicular (1,66%). Se presenta en tablas el análisis de frecuencia correspondiente y estudio de contingencia entre variantes encontradas, edad y sexo del paciente. El resultado de la investigación busca aportar al conocimiento de variantes anatómicas normales correlativas a procesos patológicos infradiagnosticados, desde el rol de la anatomía radiológica.


The group of pathologies under the name of foot and ankle pain syndromes encompass different tendinopathies associated among various clinical factors with the presence of accessory tarsal bones. The correct identification and radiological differentiation of these anatomical variants, by virtue of their ability to influence the normal dynamics of the tarsus, motivated the study of their incidence. Our objective is to determine the presence of different tarsal accessory bones in a population sample. Here we present the results of a retrospective observational study in 240 patients between 15 and 85 years of age, treated in a private health center in the city of Las Piedras, Canelones, with pre-existing ankle and foot x-rays in the institutional database. The presence of tarsal accessory bones was determined in 23 patients (9.58%), identifying findings of Os Trigonum (1.66%), Stieda Process (3.33%), Os Peroneum (2.93%) and Os Navicular (1, 66%). The corresponding frequency analysis and contingency study between the variants found, age and sex of the patient are exposed in tables. The result of the research seeks to contribute to the knowledge of normal anatomical variants correlative to under diagnosed pathological processes, from the role of radiological anatomy.


O grupo de patologias com a denominação de síndromes dolorosas no pé e tornozelo engloba diferentes tendinopatias associadas entre diversos fatores clínicos à presença de ossos acessórios do tarso. A correta identificação e diferenciação radiológica dessas variantes anatômicas em virtude de sua capacidade de influenciar a dinâmica normal do tarso motiva o estudo de sua incidência. Nosso objetivo é determinar a presença de diferentes ossos acessórios do tarso em uma amostra populacional. É apresentado o resultado de um estudo observacional retrospectivo em 240 pacientes entre 15 e 85 anos de idade atendidos em um centro privado na cidade de Las Piedras, Canelones, com radiografias de pé e tornozelo pré-existentes no banco de dados institucional. A presença de ossos acessórios do tarso foi determinada em 23 pacientes (9,58%), identificando achados de Os Trigonum (1,66%), Processo de Stieda (3,33%), Os Peroneum (2,93%) e Os Navicular (1,66%). A correspondente análise de frequência e estudo de contingência entre as variantes encontradas, idade e sexo do paciente são apresentados em tabelas. O resultado da pesquisa busca contribuir para o conhecimento das variantes anatômicas normais correlativas aos processos patológicos subdiagnosticados, a partir do papel da anatomia radiológica.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Deformidades do Pé/epidemiologia , Deformidades do Pé/diagnóstico por imagem , Ossos do Tarso/anormalidades , Tornozelo/anormalidades , Epidemiologia Descritiva , Incidência , Estudos Retrospectivos , Síndromes da Dor Regional Complexa/etiologia , Distribuição por Idade e Sexo , Estudo Observacional
12.
JBJS Case Connect ; 11(4)2021 10 27.
Artigo em Inglês | MEDLINE | ID: mdl-34714811

RESUMO

CASE: Tarsal-carpal coalition syndrome (TCCS) is a disorder identified by fusion of the carpals, tarsals, and phalanges of the hands and feet. We describe a case of an 11-year-old girl who has been followed at our outpatient clinic from the age of 8 months. CONCLUSION: Although patients with TCCS can experience a wide range of symptoms, the primary complaint arises from the foot deformity and associated pain. Using advanced imaging such as 3D computed tomography reconstruction and genetic testing, this report details the clinical, genetic, and radiographic characteristics of the disorder. We highlight the natural progression and symptomatic management of TCCS.


Assuntos
Ossos do Carpo , Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , Sinostose , Ossos do Carpo/anormalidades , Ossos do Carpo/diagnóstico por imagem , Ossos do Carpo/cirurgia , Criança , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/terapia , Deformidades Congênitas da Mão/cirurgia , Humanos , Lactente , Estribo/anormalidades , Sinostose/diagnóstico por imagem , Sinostose/cirurgia , Ossos do Tarso/anormalidades
13.
Otol Neurotol ; 42(8): e1143-e1151, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34049328

RESUMO

OBJECTIVES: To better distinguish NOG-related-symphalangism spectrum disorder (NOG-SSD) from chromosomal 17q22 microdeletion syndromes and to inform surgical considerations in stapes surgery for patients with NOG-SSD. BACKGROUND: Mutations in NOG cause a variety of skeletal syndromes that often include conductive hearing loss. Several microdeletions of chromosome 17q22 lead to severe syndromes with clinical characteristics that overlap NOG-SSD. Isolated deletion of NOG has not been described, and therefore the contribution of NOG deletion in these syndromes is unknown. METHODS: Two families with autosomal dominant NOG-SSD exhibited stapes ankylosis, facial dysmorphisms, and skeletal and joint anomalies. In each family, NOG was evaluated by genomic sequencing and candidate mutations confirmed as damaging by in vitro assays. Temporal bone histology of a patient with NOG-SSD was compared with temporal bones of 40 patients diagnosed with otosclerosis. RESULTS: Family 1 harbors a 555 kb chromosomal deletion encompassing only NOG and ANKFN1. Family 2 harbors a missense mutation in NOG leading to absence of noggin protein. The incus-footplate distance of the temporal bone was significantly longer in a patient with NOG-SSD than in patients with otosclerosis. CONCLUSION: The chromosomal microdeletion of family 1 led to a phenotype comparable to that due to a NOG point mutation and much milder than the phenotypes due to other chromosome 17q22 microdeletions. Severe clinical findings in other microdeletion cases are likely due to deletion of genes other than NOG. Based on temporal bone findings, we recommend that surgeons obtain longer stapes prostheses before stapes surgery in individuals with NOG-SSD stapes ankylosis.


Assuntos
Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , Sinostose , Ossos do Carpo/anormalidades , Heterogeneidade Genética , Humanos , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades
14.
Nucl Med Commun ; 42(9): 998-1004, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-33867482

RESUMO

OBJECTIVE: The maximum standardized uptake value (SUVmax) in single-photon emission computed tomography/computed tomography (SPECT/CT) can help quantify disease activity of the accessory navicular bone (ANB). In this multicenter quantitative bone SPECT/CT study, we investigated whether SUVmax was correlated with ANB severity, thereby allowing prediction of surgical resection for ANB treatment. METHODS: Two-hundred forty-six patients (men:women = 135:111, mean age = 39.3 years), who had undergone quantitative Tc-99m diphosphonate SPECT/CT of the feet, were recruited from four hospitals. SUVmax was measured using vendor-provided quantitation software. The SUVmax values were compared in relation to ANB type (type 1 = 62, type 2 = 136 and type 3 = 14), presence of pain and surgical treatment. RESULTS: SUVmax (mean ± SD) was the highest in type 2 ANB (4.41 ± 5.2; P = 0.0101). The 17 resected ANBs showed greater SUVmax (8.27 ± 5.23; P < 0.0001) than the 141 asymptomatic ANBs (2.30 ± 1.68) or the 54 symptomatic ANBs without surgery (6.15 ± 4.40). Since surgery is exclusively indicated for ANB type 2, surgical resection was investigated only in these cases. In univariate analysis, young age and SUVmax were significantly associated with surgical treatment, but only SUVmax was a significant predictor of surgery in multivariate analysis (P < 0.0001). Type 2 ANBs were treated by surgery in 32.5% (13/40) of the cases when SUVmax was ≥5, and in only 1.35% (1/74) of the cases when SUVmax was <5 (P < 0.0001). CONCLUSION: ANB disease activity and excision were strongly associated with the SUVmax derived from quantitative bone SPECT/CT. Our study suggests an absolute SUVmax cutoff for ultimate ANB surgical treatment, but additional prospective studies are required to validate this finding.


Assuntos
Doenças do Pé , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Ossos do Tarso/anormalidades , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medronato de Tecnécio Tc 99m
15.
Foot Ankle Int ; 42(4): 469-475, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33179529

RESUMO

BACKGROUND: This study aimed to compare the radiologic parameters of both feet in patients with unilateral accessory navicular bone (ANB) and evaluate the differences from one another. METHODS: Forty-one patients with unilateral ANB volunteered to participate in this study from August 2019 to January 2020. Patient data, including age, sex, body mass index (BMI), type of ANB, and presence of symptoms were obtained. Group 1 comprised 23 patients with asymptomatic unilateral ANB, and group 2 comprised 18 patients with symptomatic unilateral ANB. Seven radiologic parameters were evaluated assessing hindfoot, midfoot, and forefoot alignment-calcaneal pitch angle, talocalcaneal angle, tibiocalcaneal angle, naviculocuboid overlap (NCO), talonavicular coverage angle (TNCA), anteroposterior talo-first metatarsal angle, and lateral talo-first metatarsal angle. RESULTS: The mean age of patients was 40.1 years in group 1 and 42.6 years in group 2. Mean BMI was 25.2 in group 1 and 26.6 in group 2. No significant differences were noted in the radiologic parameters between the ANB and contralateral sides in all patients. The radiologic parameters of both feet in symptomatic and asymptomatic patients were not significantly different. No significant differences were noted between the affected sides of type 1 and 2 ANB and contralateral sides in terms of the radiologic parameters. BMI was significantly correlated with NCO and TNCA. CONCLUSION: This study demonstrated that the presence of an accessory navicular bone did not affect radiologic parameters of the foot. Radiologic parameters of both feet in symptomatic patients were not significantly different. LEVEL OF EVIDENCE: Level III, diagnostic, comparative study.


Assuntos
Pé Chato , Doenças do Pé , Adulto , Pé Chato/diagnóstico por imagem , Doenças do Pé/diagnóstico por imagem , Humanos , Radiografia , Estudos Retrospectivos , Ossos do Tarso/anormalidades
16.
BMC Med Genomics ; 13(1): 187, 2020 12 11.
Artigo em Inglês | MEDLINE | ID: mdl-33308208

RESUMO

BACKGROUND: The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. METHODS: In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them. RESULTS: The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6:c.532T > C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation. CONCLUSION: Analysis of this family showed that the novel presentation of the c.532T > C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis.


Assuntos
Anormalidades Múltiplas/genética , Ossos do Carpo/anormalidades , Proteínas de Transporte/genética , Deformidades Congênitas do Pé/genética , Estudos de Associação Genética , Deformidades Congênitas da Mão/genética , Perda Auditiva Condutiva/genética , Mutação , Estribo/anormalidades , Estribo/patologia , Sinostose/genética , Ossos do Tarso/anormalidades , Adulto , Substituição de Aminoácidos , Limiar Auditivo , Sequência de Bases , Criança , Feminino , Perda Auditiva Condutiva/cirurgia , Humanos , Linhagem , Fenótipo , Recidiva , Estudos Retrospectivos , Esclerose , Cirurgia do Estribo
17.
J Comput Assist Tomogr ; 44(6): 993-997, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32976260

RESUMO

INTRODUCTION: Patients with type II navicular ossicles have traditionally been considered to be symptomatic, whereas patients with type I and III bones are considered asymptomatic without additional relevant imaging findings. The main objective of this study is to investigate the association of type I os naviculare with clinical symptomology and magnetic resonance imaging findings in comparison to types II and III ossicles. METHODS: Three hundred nine subjects with accessory navicular bone types were identified, and their associations with focal navicular pain, pes planus alignment, ossicle or proximal navicular bone marrow edema pattern presence (BMEP), and posterior tibial tendon (PTT) sheath fluid distension were assessed. Fisher's exact test was used for categorical data and unpaired t tests for continuous data. Intraobserver and interobserver agreement was calculated. RESULTS: Overall, 28% (85/309) of type I, 57% (176/309) of type II, and 16% (48/309) of type III accessory bones had focal navicular pain (type I vs type II, P = 0.17; type III vs type II, P = 0.001). Thirty-two percent of type I, 38% type II, and 8% type III accessory bones had pes planus (type I vs II, P = 0.3; type III vs type II, P = 0.001). Nine percent of type I, 48% of type II, and 6% of type III accessory bones had BMEP (type I vs II, P < 0.0001; type III vs type II, P = 0.001). Thirty-three percent of type I, 42% of type II, and 6% of type III accessory bones had PTT intrasheath fluid (type I vs II, P = 0.16; type III vs type II, P = 0.001). CONCLUSIONS: Symptomatic type I navicular ossicle patients demonstrate an increased tendency to present with early findings of PTT dysfunction and morphologic pes planus to a greater degree than previously recognized. LEVEL OF CLINICAL EVIDENCE: 3.


Assuntos
Doenças do Pé/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Disfunção do Tendão Tibial Posterior/diagnóstico por imagem , Ossos do Tarso/anormalidades , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ossos do Tarso/diagnóstico por imagem
18.
Clin Sports Med ; 39(4): 859-876, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32892972

RESUMO

Painful accessory navicular and spring ligament injuries in athletes are different entities from more common posterior tibialis tendon problems seen in older individuals. These injuries typically affect running and jumping athletes, causing medial arch pain and in severe cases a pes planus deformity. Diagnosis requires a detailed physical examination, standing radiographs, and MRI. Initial treatment focuses on rest, immobilization, and restriction from sports. Orthotic insoles may alleviate minor pain, but many patients need surgery to expedite recovery and return to sports. The authors review their approach to these injuries and provide surgical tips along with expected rehabilitation to provide optimal outcomes.


Assuntos
Traumatismos em Atletas/terapia , Traumatismos do Pé/terapia , Ligamentos Articulares/lesões , Dor Musculoesquelética/etiologia , Procedimentos Ortopédicos/métodos , Ossos do Tarso/anormalidades , Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/etiologia , Traumatismos em Atletas/fisiopatologia , Pé Chato/etiologia , Pé Chato/terapia , Doenças do Pé/diagnóstico , Doenças do Pé/fisiopatologia , Doenças do Pé/terapia , Traumatismos do Pé/diagnóstico , Traumatismos do Pé/etiologia , Traumatismos do Pé/fisiopatologia , Humanos , Ligamentos Articulares/cirurgia , Dor Musculoesquelética/terapia , Ossos do Tarso/lesões , Ossos do Tarso/fisiopatologia , Resultado do Tratamento
19.
Foot Ankle Int ; 41(12): 1493-1501, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32762355

RESUMO

BACKGROUND: The Kidner procedure is performed to treat painful accessory navicular syndrome, with varying results. Recurrent pain remains a complication, and to date, there is a paucity of literature regarding the causes of recurrent pain and surgical outcomes of revision. METHODS: Twenty-one patients who underwent revision surgery for recurrent pain after the Kidner procedure were identified. All patients had their tendon inspected and treated, and all had a medial displacement calcaneal osteotomy. Revision was indicated after 6 months of failed conservative therapy. Pre- and postrevision radiographic measurements included lateral talo-first metatarsal angle (Meary's angle), talonavicular coverage angle, calcaneal pitch, and hindfoot moment arm (HMA). Meary's angle >4 degrees was considered a planus deformity and HMA >9.1 mm was considered a hindfoot valgus deformity; patients fulfilling both criteria were categorized as having planovalgus deformity. Measurements in the contralateral foot were performed to determine whether alignment of the involved side was attributed to failed treatment or a preexisting deformity. Visual analog scale and Foot and Ankle Outcome Scores were compared and average follow-up was 20.1 months (range, 14-26). RESULTS: Preoperatively, 20 of 21 (95%) patients had a form of valgus heel alignment (planovalgus, n = 11; hindfoot valgus only, n = 9), and 1 had an isolated planus deformity. The contralateral side revealed similar deformity, with 17 of 21 (81%) patients having a form of valgus heel alignment (planovalgus, n = 13; hindfoot valgus only, n = 4) and 4 patients with an isolated planus deformity. All patients underwent realignment surgery with medial displacement calcaneal osteotomy. All radiographic parameters except Meary's angle (P = .885) significantly improved postoperatively along with significantly improved clinical outcomes. CONCLUSION: Recurrent pain following the Kidner procedure was associated with valgus heel alignment. Revision surgery including realignment procedure alleviated pain and improved functional outcomes with minimal complications. Therefore, we recommend assessing heel alignment in patients presenting with recurrent pain following the Kidner procedure. LEVEL OF EVIDENCE: Level IV, case series.


Assuntos
Calcâneo/cirurgia , Doenças do Pé/cirurgia , Osteotomia/métodos , Dor Pós-Operatória/cirurgia , Reoperação/métodos , Ossos do Tarso/anormalidades , Falha de Tratamento , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Estudos Retrospectivos , Inquéritos e Questionários , Ossos do Tarso/cirurgia , Adulto Jovem
20.
Foot Ankle Clin ; 25(3): 493-503, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32736744

RESUMO

Endoscopic resection of tarsal coalitions is technically feasible for both talocalcaneal and calcaneonavicular coalitions. Careful consideration of each individual patient is necessary before proceeding with endoscopic resection. Endoscopic resection of these coalitions may offer benefits in terms of faster recovery and less wound problems, but this has not been proven. Several case reports and case series appear in the literature and are reviewed here along with the different techniques reported. Better-quality evidence is required to assess the clinically relevant benefits and the recurrence rate for endoscopic resection in comparison with open resection.


Assuntos
Endoscopia/métodos , Ossos do Tarso/cirurgia , Coalizão Tarsal/cirurgia , Humanos , Ossos do Tarso/anormalidades , Coalizão Tarsal/diagnóstico
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