Prevalence of Absence of Palmaris Longus Tendon in a Population Sample from a Multiethnic Brazilian City / Prevalência de ausência de tendão palmaris longus em uma amostra populacional de uma cidade brasileira multiétnica

Abstract Objective The objective of the study was to determine the prevalence of absence of palmaris longus tendon in a population sample from a multiethnic Brazilian city. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The absence of palmaris longus tendon was determined by asking the volunteers to perform the Schaeffer test bilaterally. Results We prospectively collected data on 1,008 volunteers, 531 male and 477 female, with age between 18 and 74 years (mean 38.4 years). The absence of palmaris longus tendon was observed in 264 (26.2%) volunteers. Bilateral absence was detected in 123 volunteers (12.2%), 60 female (48.8%) and 63 male (51.2%). Unilateral absence was found in 141 patients (14.0%), 54 female (38.2%) and 87 male (61.8%) (p < 0.05). Conclusion The prevalence of absence of palmaris longus tendon in our study was 26.2%. There was no statistically significant difference between gender and bilaterally. The absence of palmaris longus tendon was predominant on unilateral right side in males.

Resumo Objetivo O objetivo do presente estudo foi determinar a prevalência de ausência de tendão palmaris longus em uma amostra populacional de uma cidade multiétnica brasileira. Métodos Um estudo observacional transversal foi realizado entre outubro de 2017 e abril de 2018. Incluímos voluntários dos sexos masculino e feminino com 18 anos ou mais. A ausência do tendão palmaris longus foi determinada pedindo aos voluntários que realizassem o teste de Schaeffer bilateralmente. Resultados Foram coletados prospectivamente dados de 1.008 voluntários, 531 homens e 477 mulheres, com idade entre 18 e 74 anos (média de 38,4 anos). A ausência do tendão palmaris longus foi observada em 264 (26,2%) voluntários. A ausência bilateral foi detectada em 123 voluntários (12,2%), 60 mulheres (48,8%) e 63 homens (51,2%). A ausência unilateral foi encontrada em 141 pacientes (14,0%), 54 mulheres (38,2%) e 87 homens (61,8%) (p<0,05). Conclusão A prevalência de ausência do tendão palmaris longus em nosso estudo foi de 26,2%. Não houve diferença estatisticamente significativa bilateralmente e entre gêneros. A ausência do tendão palmaris longus foi predominante no lado direito unilateral no sexo masculino.

Classificação e tratamento da mão em fenda: revisão da literatura / Cleft hand classification and treatment: literature review

A mão em fenda é uma deformidade congênita rara caracterizada por uma deficiência longitudinal dos raios centrais da mão, podendo estar associada a outras malformações. Devido ao amplo espectro de manifestações, o tratamento de mãos em fenda é desafiador. Este estudo objetiva apresentar as classificações, técnicas cirúrgicas mais indicadas e seguimentos adotados conforme a manifestação clínica. Foi realizada uma pesquisa nos bancos de dados Web of Science, PubMed, Scopus, Cochrane e Embase, descritores e termos relacionados à anomalia mão em fenda típica. Trinta e dois artigos foram incluídos, sendo analisados quanto a classificação da anomalia, classificação da gravidade de expressão, técnicas cirúrgicas e estudos com informações da intervenção cirúrgica adotada para uma coorte de pacientes. Considerando que estudos sobre mão em fenda são diretamente afetados pelas descobertas embriológicas, genéticas e de biologia molecular, diferentes classificações foram descritas e diversos estudos de complementação de técnicas cirúrgicas já existentes foram encontrados. Estudos inovadores são escassos. A padronização na descrição das técnicas e resultados, além de pesquisas de melhor qualidade, poderiam elucidar lacunas ainda existentes em torno das opções de tratamento.

Cleft hand is a rare congenital deformity characterized by a longitudinal deficiency of the central rays of the hand, which may be associated with other malformations. Due to the wide spectrum of manifestations, the treatment is challenging. This study aims to present the most suitable classifications, surgical techniques and follow-up adopted according to the clinical manifestation. A search was performed in the databases Web of Science, PubMed, Scopus, Cochrane and Embase, descriptors and terms related to the hand anomaly in a typical cleft. Thirty-two articles were included and analyzed regarding the classification of the anomaly, classification of the severity of expression, surgical techniques and studies with information on the surgical intervention adopted for a cohort of patients. Considering that studies about cleft hand could be directly affected by embryological, genetic and molecular biology discoveries, different classifications have been described and several studies to complement existing surgical techniques have been found. Innovative studies are scarce. Standardization in the description of techniques and results, in addition to better quality research, could elucidate gaps that still exist around treatment options.

Indications for surgery and functional status of patients with congenital hand anomalies persisting beyond childhood

BACKGROUND@#Reconstruction for congenital hand anomalies, if indicated, is generally recommended during early childhood to optimize function before formal education starts and minimize the psychosocial impact. There have been limited reports on these conditions persisting beyond the recommended age for surgery.@*OBJECTIVE@#The research aimed to explore the common reasons why patients consult for late surgery and determine the baseline function of the patients prior to reconstructive surgery using the Filipino Disability of Arm Shoulder and Hand (Fil-DASH).@*METHODS@#An observational, chart review of cases from 2013-2021 was done. The reasons and indications were extracted from the history and Fil-DASH scores were recorded with available data. The results were presented using summary statistics and tabulation of qualitative data.@*RESULTS@#Twenty-five hands in 20 patients underwent reconstruction of congenital anomalies persisting beyond childhood. The most common indication for surgery was concerns regarding work opportunities. Hope for a better function, cosmesis, social pressure and hygiene were the other reasons mentioned. Most of the patients did not complain of significant problems in doing activities of daily living. This was supported by their Fil-DASH scores and employment status prior to surgery.@*CONCLUSION@#In this population, the indications to request for reconstruction of congenital anomalies beyond childhood were not necessarily due to loss of function but to increase opportunities for employment, improved appearance and hope for increased function. The results may aid in the understanding of the natural history of congenital hand anomalies and guide the physicians with more specific advice for parents with children presenting with these conditions.

Clinical characteristics of 170 cases of macrodactyly / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics of 170 cases of macrodactyly.@*METHODS@#Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.@*RESULTS@#Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative.@*CONCLUSION@#Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.

Outcome of non-surgical treatment of mallet finger / Resultado do tratamento não cirúrgico do dedo em martelo

ABSTRACT Objective: To establish the association between initial and residual angulation of the distal interphalangeal joint (DIJ) in mallet finger treated conservatively. Methods: An observational, prospective, descriptive and analytical research developed with uncomplicated closed mallet finger patients between January and December 2017. A total of two measurements of the DIJ were done, at the initial trauma and 6 weeks after conservative treatment. All measurements were ranked according to the Crawford Classification and Relative Risk was measured. Results: In total, 43 patients were studied, in which 53.48% of outcomes obtained were excellent. The sample was divided in two groups; one with less than 30º of DIJ initial angulation, which had 28% of residual angulation. The second group with more than 30º presented 72.22% of residual angulation. The Relative Risk to present a residual angulation in patients that had 30º of DIJ initial angulation was 2.99 (CI 95%) with p = 0.0059. Conclusion: It is suggested that patients with an initial DIJ angulation more than 30º are more likely to present residual angulation with conservative treatment. Level of Evidence IV, Case series.

RESUMO Objetivo: Estabelecer a associação entre a angulação inicial e residual da articulação interfalângica distal em casos de dedo em martelo tratados de forma conservadora. Métodos: Estudo observacional, prospectivo, descritivo e analítico desenvolvido com pacientes que apresentavam dedo em martelo fechado, sem complicações, no período de janeiro a dezembro de 2017. Foram realizadas duas medidas na articulação interfalângica distal, no trauma inicial e seis semanas após o tratamento conservador. Todos foram classificados de acordo com a Classificação Crawford e o Risco Relativo (RR) foi calculado. Resultados: Foram estudados 43 pacientes, dos quais 53,48% apresentaram resultados excelentes. A amostra foi dividida em dois grupos: um com < 30º de angulação interfalângica distal inicial, com 28% de angulação residual, e outro com > 30º, apresentando 72,22% de angulação residual. O risco relativo de apresentar angulação residual em pacientes com 30º de angulação inicial da articulação interfalângica distal foi de 2,99 (IC 95%) com um valor de p = 0,0059. Conclusão: Sugere-se que os pacientes com angulação inicial da articulação interfalângica distal superior a 30º têm maior probabilidade de apresentar angulação residual com tratamento conservador. Nível de Evidência IV, Série de casos.

Prevalence of the Linburg-Comstock Anomaly in a Brazilian Population Sample / Prevalência da anomalia de Linburg-Comstock em uma amostra populacional brasileira

Abstract Objective To determine the prevalence of the Linburg-Comstock anomaly in a Brazilian population sample. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The presence of the Linburg-Comstock anomaly was determined by performing the clinical tests described by Linburg and Comstock. The data were analyzed using the GraphPad Prism software, and we considered differences with p < 0.05. Results The study analyzed 1,008 volunteers (2,016 hands) with a mean age of 38.3 years, 531 (52.67%) of which were male, and 477 (47.33%) were female. The Linburg-Comstock anomaly was diagnosed in 564 (55.95%) individuals, and it was bilateral in 300 (53.2%) of them, right-sided in 162 (28.72%), and left-sided in 102 (18.08%). No significant differences were found when comparing the prevalence between genders. However, a the prevalence of the right-sided anomaly in the male population (n = 99; 70.21%) was higher than in the female one (n = 63; 51.21%), with p = 0.0016. In addition, the presence of pain by the maneuver described by Linburg and Comstock was more prevalent in women (n = 150; 54.94%) than in men (n = 105; 36.08%), with p = 0.0001. These results show the importance of epidemiological studies on the Linburg-Comstock anomaly, mainly in order to investigate the presence of associated conditions. Conclusion The prevalence of the Linburg-Comstock anomaly in the studied population was of 55.95%, and it was bilateral in 53.2% of the volunteers. The presence of the connection was observed more frequently in the right side and among men, but the pain symptom was more frequent among women.

Resumo Objetivo Determinar a prevalência da anomalia de Linburg-Comstock em uma amostra populacional brasileira. Métodos Estudo observacional transversal realizado no período de outubro de 2017 a abril de 2018. Foram incluídos voluntários dos gêneros feminino e masculino, com idade igual ou superior a 18 anos. A presença da anomalia de Linburg-Comstock foi determinada pela realização dos testes clínicos descritos por Linburg e Comstock. Os dados foram analisados por meio do software GraphPad Prism, sendo consideradas diferenças com valores de p < 0,05. Resultados O estudo analisou 1.008 voluntários (2.016 mãos) com idade média de 38,3 anos, dos quais 531 (52,67%) eram do gênero masculino, e 477 (47,33%) eram do gênero feminino. A anomalia de Linburg-Comstock foi diagnosticada em 564 voluntários (55,95%) da população estudada, sendo bilateral em 300 (53,2%), direita em 162 (28,72%), e esquerda em 102 (18,08%). Não foram encontradas diferenças significativas quando se comparou a prevalência entre os gêneros. Porém, foi encontrada uma maior prevalência da anomalia direita na população masculina (n = 99; 70,21%) do que na feminina (n = 63; 51,21%), com p = 0,0016. Além disso, a presença da dor pela manobra descrita por Linburg e Comstock foi mais prevalente nas mulheres (n = 150; 54,94%) do que nos homens (n = 105; 36,08%), com p = 0,0001. Estes resultados mostram a importância dos estudos epidemiológicos sobre a anomalia de Linburg-Comstock, principalmente com o intuito de investigar a presença de afecções associadas. Conclusão A prevalência da anomalia de Linburg-Comstock na população estudada foi de 55,95%, sendo bilateral em 53,2% dos voluntários. A presença da conexão foi observada com maior frequência do lado direito em homens, mas o sintoma dor foi mais frequente nas mulheres.

Interobserver Analysis of Albertoni Classification for Mallet Finger, Using Plain Radiography: Importance of the Goniometer / Análise interobservador da classificação das lesões em dedo em martelo segundo Albertoni, utilizando-se radiografias simples: Importância do uso do goniômetro

Abstract Objectives The objective of the present study is to evaluate the intraobserver and interobserver reliability of the Albertoni classification for mallet finger. Evaluation of goniometer device application is also an objective. Methods A total of 10 lateral radiographs of patients with mallet finger were selected and measured by 60 orthopedic surgeons with and without the use of goniometer. Results The intra- and interobserver reliability coefficients found were high. With the use of a goniometer, the interobserver reliability coefficient was even higher, but without statistical relevance. Conclusion The Albertoni classification showed high intraobserver and interobserver reliability in assessing mallet finger lesions, and the goniometer is dispensable for this purpose.

Resumo Objetivos Quantificar o grau de concordância intra- e interobservador da classificação Albertoni e avaliar a importância do uso do goniômetro na diferenciação do grau da lesão. Métodos Foram selecionados 10 casos de dedo em martelo, os quais foram avaliados por 60 examinadores. Resultados A concordância interobservador sem o uso do goniômetro foi elevada. Com o uso do goniômetro, obteve-se um "kappa" ainda maior, porém sem relevância estatística. Conclusão A Classificação de Albertoni possui elevada concordância intra- e interobservador, e o uso do goniômetro se mostrou dispensável para classificar.

Treatment of mallet finger deformity by reconstruction of the terminal extensor tendon insertion with Endobutton CL BTB / 中华骨科杂志

Objective@#Purpose To introduce the treatment of mallet finger deformity by reconstruction of the terminal extensor tendon insertion with endobutton CL bone-tendon-bone (BTB), and discuss its clinical effects.@*Methods@#From January 2010 to August 2013, 21patients (male 15, female 6) with mallet finger deformity were retrospectively studied. The average age of patients was 31.3±5.3 years. The time from injury to surgery was 5.2±2.1 d. Extensor tendons were ruptured at the terminal insertion in all patients, and there were no avulsion fracture at the base of the distal phalanx.. the terminal extensor tendon insertion Awere surgical reconstructed with Endobutton CL BTB, via a dorsal S-shaped incision of distal interphalangeal joint. Dorsal base of the distal phalanx was drilled a hole and then the tendon suture line with Endobutton CL BTBwas inserted from the ventral finger to the dorsal base of the phalanx to suture the proximal extensor tendon. The function of the affected finger was evaluated according to the Crawford standard after operation and follow-up: the active flexion and extension range of motion of each joint of the affected finger and the contralateral healthy finger were measured, and the total active ranges of motion of the finger were recorded. Finger function was evaluated according to the total active range of motion (TAM) system of the American Association of hand Surgeons.@*Results@#All 21 cases were followed up and the follow-up period was 8 to 24 months, with an average of 18.6±5.1 months. The operation time of the patients was 20-40 min, with an average of 29.6±10.3 min. The intraoperative blood loss was 5-10ml, with an average of 7.5±2.6 ml. Mallet finger deformities were all corrected postoperatively. One case presented with limited dorsal extension with elongation of -20°. According to the Crawford evaluation standard, there were 18 excellent patients and 2 good patients, with the excellent and good rate was 95.2% (20/21). The degrees of active joint activity were: 91°±7° of the metacar-pophalangeal joint, 92°±4° of the proximal interphalangeal joint, 82°±8° of the distal interphalangeal joint, and 259°±15° of total active activity. The TAMs of the healthy side were 259°±15°, and the TAMs of the affected side were 268°±12°, the difference was statistically significant (t=2.147, P=0.038). Accorrding to TAM system assessment criteria: excellent in 18 patients, good in 2 patients, and the excellent and good rate was 95.2% (20/21). One case presented with dorsal extension limitation, one case suffered from discomfort of grip because of scar in ventral side of the finger. The postoperative dorsal extension was limited in 3 cases, and the postoperative dorsal extension function was gradually restored 6 months later.@*Conclusion@#The treatment of mallet finger deformity by reconstruction of the terminal extensor tendon insertion with Endobutton CL BTB was effective and easy-operating. Postoperative patients can perform early finger function exercise, satisfactory results, worthy of clinical promotion and application.

Ultrasonography in prenatal screening of brachydactyly / 中华全科医师杂志

From November.2015 to December 2016,targeted hand ultrasonographic examinations were carried out on 532 fetuses with family history,suspected limb deformities or other abnormalities.The number,size and shape of metacarpal and phalangeal bones were observed from coronal,axial and sagittal view.Three-dimensional ultrasound examination was performed on the suspected short fingers of fetal hands.Follow-up data were obtained in 382 cases.In 6 cases of prenatally detected brachydactyly,5 were bilateral and 1 case was unilateral.In these cases,more than one ossification centers of phalanxes were not present or significantly smaller.In 6 cases of brachydactyly,the termination of pregnancy was performed in 4 (including 2 cases with multiple malformations,and 2 cases with brachydactyly family history but without other abnormalities),while in other 2 cases without other abnormalities the pregnancy was retained until birth.X-rays and autopsies confirmed the prenatal diagnosis of brachydactyly in 4 cases of pregnancy termination,but duplicated distal phalanges of bilateral thumbs of 1 case was missed in prenatal scan.It is suggested that the targeted ultrasonographic scan of the fetal hands in high-risk population during pregnancy helps to detect severe brachydactyly.

Treatment of mallet finger deformity by reconstruction of the terminal extensor tendon insertion with Endobutton CL BTB / 中华骨科杂志

Objective Purpose To introduce the treatment of mallet finger deformity by reconstruction of the terminal ex?tensor tendon insertion with endobutton CL bone?tendon?bone (BTB), and discuss its clinical effects. Methods From January 2010 to August 2013, 21patients (male 15, female 6) with mallet finger deformity were retrospectively studied. The average age of patients was 31.3±5.3 years. The time from injury to surgery was 5.2±2.1 d. Extensor tendons were ruptured at the terminal inser?tion in all patients, and there were no avulsion fracture at the base of the distal phalanx.. the terminal extensor tendon insertion Awere surgical reconstructed with Endobutton CL BTB, via a dorsal S?shaped incision of distal interphalangeal joint. Dorsal base of the distal phalanx was drilled a hole and then the tendon suture line with Endobutton CL BTBwas inserted from the ventral fin?ger to the dorsal base of the phalanx to suture the proximal extensor tendon. The function of the affected finger was evaluated ac?cording to the Crawford standard after operation and follow?up: the active flexion and extension range of motion of each joint of the affected finger and the contralateral healthy finger were measured, and the total active ranges of motion of the finger were record?ed. Finger function was evaluated according to the total active range of motion (TAM) system of the American Association of hand Surgeons. Results All 21 cases were followed up and the follow?up period was 8 to 24 months, with an average of 18.6 ± 5.1 months. The operation time of the patients was 20-40 min, with an average of 29.6±10.3 min. The intraoperative blood loss was 5-10ml, with an average of 7.5±2.6 ml. Mallet finger deformities were all corrected postoperatively. One case presented with limited dorsal extension with elongation of-20°. According to the Crawford evaluation standard, there were 18 excellent patients and 2 good patients, with the excellent and good rate was 95.2% (20/21). The degrees of active joint activity were: 91°±7°of the metacar?pophalangeal joint, 92°±4°of the proximal interphalangeal joint , 82°±8°of the distal interphalangeal joint, and 259°±15°of total active activity. The TAMs of the healthy side were 259°±15°, and the TAMs of the affected side were 268°±12°, the difference was statistically significant (t=2.147, P=0.038). Accorrding to TAM system assessment criteria: excellent in 18 patients, good in 2 pa?tients, and the excellent and good rate was 95.2% (20/21). One case presented with dorsal extension limitation, one case suffered from discomfort of grip because of scar in ventral side of the finger. The postoperative dorsal extension was limited in 3 cases, and the postoperative dorsal extension function was gradually restored 6 months later. Conclusion The treatment of mallet finger de?formity by reconstruction of the terminal extensor tendon insertion with Endobutton CL BTB was effective and easy?operating. Postoperative patients can perform early finger function exercise, satisfactory results, worthy of clinical promotion and application.

Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene

Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold Syndrome is not fully understood, it is mainly caused by mutations in the RecQ like helicase 4 (RECQL4) gene located on chromosome 8q24.3, which encodes the RECQL4 protein involved in normal DNA replication and repair. This study reports the case of a female premature infant with craniosynostosis of bilateral coronal sutures, resulting in a dysmorphic face and hypoplastic thumbs on both hands at birth, which are consistent with the core characteristics of Baller-Gerold syndrome. Diagnostic whole exome sequencing of the patient revealed a homozygous deletion from exon 13 to 18 in the RECQL4 gene. To the best of my knowledge, this is the first reported case of Baller-Gerold syndrome with RECQL4 gene mutation confirmed by diagnostic whole exome sequencing in Korea.

Adams-Oliver syndrome induced by dedicator of cytokinesis 6 gene mutation: a case report and literature review / 中华神经科杂志

Objective To analyze the clinical manifestation and genetic testing in a patient with Adams-Oliver syndrome (AOS) and summarize clinical and genetic characteristics of the dedicator of cytokinesis (DOCK) 6 gene related AOS through reviewing related references.Methods Information of the proband who was hospitalized in Affiliated Children Hospital of Capital Institute of Pediatrics in October 2016 and her family members as well as their DNA samples were collected.The gene sequencing was performed using next generation sequencing technology.Using "Adams-Oliver syndrome"and "DOCK6" as key words,the relevant articles were searched from the Pubmed,China National Knowledge Internet and Wanfang databases and reports of 19 cases were reviewed.Results The proband is an eight months old girl.She presented with severe developmental delay,terminal transverse limb defects and visual loss after birth,and then suffered from tonic seizures and myoclonic seizures at two months old.By physical examination she was found to have esotropia and visual loss.The distal phalanx and nail of the right second-fourth fingers were absent,while the phalangette of the left second-fourth fingers and bilateral distal phalanges of toes were short with small nails attachment.Thyroid function test showed hypothyroidism.The ocular fundus examination showed the residual vitreous artery in the left eye and the retinal pigment degeneration in the right eye.CT scan showed multiple bilateral periventricular calcification and cranial magnetic resonance imaging showed bilateral periventricular lesion.Two heterozygous mutations were identified in DOCK6 gene:one was a known pathogenic mutation (p.L1064Vfs*60),and the other was a novel splice site mutation (c.873+ 1G＞A).By analyzing this case and reported 19 cases,the common performances of DOCK6 gene related AOS included terminal transverse limb defects (20/20),aplasia cutis congenita (18/20),ocular abnormalities (13/20),seizures (12/20),mental retardation (12/20),microcephaly (10/20),cardiovascular malformations (10/20),intrauterine growth retardation (6/20).The mutation of the DOCK6 gene was found to be dominated by frameshift mutation and splice site mutation.Conclusions If either terminal transverse limb defects or aplasia cutis congenita was detected in a patient,AOS should be under consideration.In addition,autosomal recessive inheritance,nervous system and eyes involvement will further indicate DOCK6 gene related AOS.

Case study of congenital anomalies of the upper limb in reference ambulatory care facility / Estudo de casos de anomalia congênita do membro superior em serviço ambulatorial de referência

ABSTRACT Objective: The epidemiological profile of congenital anomalies of the upper limbs (CAULs) is of major relevance to monitoring and planning. A study of this profile may reveal if there is prevalence of some specific type of malformation in comparison to a more comprehensive epidemiological sample. The Latin American Collaborative Study of Congenital Malformations (ECLAMC) has an extensive database, providing an excellent source of comparison. This study aims to evaluate the epidemiological profile of CAULs at the hand surgery department of the Hospital Federal da Lagoa (HFL) in Brazil, and compare it to the ECLAMC data. Methods: We conducted a retrospective analysis of patients who underwent treatment at the pediatric outpatient hand surgery clinic. The sample universe consisted of 126 patients (4 of these patients presented with 2 simultaneous anomalies), totaling 130 malformations. Results: The results demonstrated that the comparable pathologies have significantly similar incidence rates. It is worth noting the polydactylies (pre- and post-axial), where the percentile of incidence in the ECLAMC was higher. Conclusion: This study showed that the epidemiological profile of patients who underwent treatment at this hospital was equivalent to that found in the ECLAMC database. Level of evidence III, Retrospective epidemiological study.

RESUMO Objetivo: O perfil epidemiológico das anomalias congênitas dos membros superiores (ACMS) é de suma relevância para monitoramento e planejamento. Um estudo nesse sentido pode revelar se há prevalência de algum tipo específico de malformação em comparação com amostra epidemiológica mais abrangente. O Estudo Colaborativo Latino Americano de Malformação Congênita (ECLAMC) tem uma extensa base de dados, que serve como excelente fonte de comparação. Este estudo tem por escopo avaliar o levantamento da casuística das ACMS no serviço de cirurgia da mão do Hospital Federal da Lagoa (HFL) e compará-la aos dados do ECLAMC. Métodos: Foi realizada uma análise retrospectiva dos pacientes atendidos no ambulatório infantil de cirurgia da mão. O universo amostral foi de 126 pacientes (sendo que 4 pacientes apresentavam 2 anomalias simultaneamente), totalizando 130 malformações. Resultados: Demonstrou-se que as patologias que puderam ser comparadas têm percentuais de incidência significativamente semelhantes. Cabe ressalvar as polidactilias (pré e pós-axiais), em que o percentil de incidência no ECLAMC foi maior. Conclusão: Este estudo evidenciou que o perfil epidemiológico dos pacientes atendidos neste hospital foi equivalente ao encontrado na base de dados do ECLAMC. Nível de evidência III, Estudo epidemiológico retrospectivo.

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report / Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.

Modelos de órteses para membros superiores: uma revisão da literatura / Orthoses devices models for upper limbs: a review of the literature

Resumo Objetivo: O objetivo deste estudo foi fazer uma revisão de literatura por intermédio da seleção e análise de estudos clínicos que investigassem os modelos de órteses para membros superiores, mais especificamente os tipos utilizados pelos profissionais da terapia ocupacional e, assim, produzir uma visão ampliada dessa demanda de modelos de órteses na área da terapia ocupacional em reabilitação da mão e membros superiores em sujeitos adultos. Método: Este estudo caracterizou-se como uma revisão narrativa da literatura acompanhada de uma análise descritiva nas bases eletrônicas de dados MEDLINE (Medical Literature Analysis and Retrieval System Online / PubMed) e LILACS (Literatura científica e técnica da América Latina e Caribe/BVS - Biblioteca Virtual em Saúde), com busca restrita ao período de janeiro de 2007 a janeiro de 2017. Resultados: Foram encontrados cinco artigos completos de trabalhos realizados por/com terapeutas ocupacionais, com enfoque em confecção e utilização de órteses na reabilitação de membros superiores. Conclusão: Os estudos envolvendo o uso de órteses para membros superiores possuem diferentes objetivos e métodos de utilização, bem como variados modelos e materiais para a confecção e fabricação do dispositivo, sendo que os fatores de interferência dessas decisões são o paciente, o tipo de lesão/condição clínica e a adaptação do usuário com relação àquele dispositivo de tecnologia assistiva.

Abstract Objective: The objective of this study was to make a literature review through the selection and analysis of clinical studies investigating the models of orthoses for upper limbs, more specifically the types used by occupational therapy professionals, and thus to produce an expanded view of this demand for orthotic models in the area of ​​occupational therapy in hand rehabilitation and upper limbs in adult subjects. Method: This study was characterized as a narrative review of the literature accompanied by a descriptive analysis in the electronic databases MEDLINE (Medical Literature Analysis and Retrieval System Online / PubMed) and LILACS (Scientific and Technical Literature of Latin America and the Caribbean / Virtual Library In Health), with a search restricted from January 2007 to January 2017. Results: Five complete articles were found of work done by / with occupational therapists, focusing on confection and use of orthoses in the rehabilitation of upper limbs. Conclusion: The studies involving the use of orthoses for upper limbs have different objectives and methods of use, as well as varied models and materials for the confection and fabrication of the device, and the interference factors of these decisions are the patient, the type of injury / clinic condition and user adaptation in relation to that assistive technology device.

Evaluation of interobserver agreement in Albertoni's classification for mallet finger / Avaliação de concordância interobservador da classificação de Albertoni para dedo em martelo

ABSTRACT Objective: To measure the reliability of Albertoni's classification for mallet finger. Methods: Agreement study. Forty-three radiographs of patients with mallet finger were assessed by 19 responders (12 hand surgeons and seven residents). Injuries were classified by Albertoni's classification. For agreement comparison, lesions were grouped as: (A) tendon avulsion; (B) avulsion fracture; (C) fracture of the dorsal lip; and (D) physis injury-and subgroups (each group divided into two subgroups). Agreement was assessed by Fleiss's modification for kappa statistics. Results: Agreement was excellent for Group A (k = 0.95 (0.93-0.97)) and remained good when separated into A1 and A2. Group B was moderate (k = 0.42 (0.39-0.44)) and poor when separated into B1 and B2. In the Group C, agreement was good (k = 0.72 (0.70-0.74)), but when separated into C1 and C2, it became moderate. Group D was always poor (k = 0.16 (0.14-0.19)). The general agreement was moderate, with (k = 0.57 (0.56-0.58)). Conclusion: Albertoni's classification evaluated for interobserver agreement is considered a reproducible classification by the method used in the research.

RESUMO Objetivo: Avaliar a reprodutibilidade da classificação de Albertoni para dedo em martelo. Métodos: Foi feita uma avaliação por meio de questionário no qual foram avaliadas 43 radiografias em perfil da articulação interfalângica distal de dedos da mão, com lesão tipo dedo em martelo. Todas as lesões foram caracterizadas pela classificação de Albertoni, por 19 entrevistados (12 cirurgiões de mão e sete residentes). Foi então avaliada a concordância com o coeficiente Kappa generalizado, separadas por grupos - (A) avulsão tendínea; (B) fratura avulsão; (C) fratura do lábio dorsal e (D) lesão fisária - e por subgrupos (cada grupo dividido em 1 e 2). Resultados: A concordância foi excelente para o grupo A (k = 0,95 [0,93-0,97]) e manteve-se boa quando separados em A1 e A2. No grupo B, a concordância foi moderada (k = 0,42 [0,39-0,44]), e foi ruim quando separada em B1 e B2. No grupo C, a concordância foi boa (k = 0,72 [0,70-0,74]), mas quando separada em C1 e C2 se tornou moderada. No grupo D foi sempre ruim (k = 0,16 [0,14-0,19]). A concordância geral foi moderada (k = 0,57 [0,56-0,58]). Conclusão: Pela avaliação da concordância geral, a classificação de Albertoni é considerada reprodutível pelo método usado na pesquisa.

Effect of the p.a.r.q.v.e on rhizarthritis / Efeito do p.a.r.q.v.e sobre a rizoartrite

ABSTRACT Objective: To evaluate the effect of a clinical management program involving education on hand function in patients with rhizarthritis. Methods: One hundred and eight patients with rhizarthritis and multiple arthritis (191 hands with clinical and radiographic rhizarthritis) followed for two years as part of an educational program on osteoarthritis were administered the SF-36, DASH, and HAQ questionnaires and measured for the strength of their palmar grip, pulp to pulp pinch, key (lateral) pinch, and tripod pinch at the time of inclusion and after 24 months. Age, race, level and frequency of physical activity, sex, body mass index, percentage of body fat, and degree of osteoarthritis were correlated to the test outcomes. Results: Women improved less than men on the HAQ (p=0.037). Each 1% reduction in fat percentage increased the chance of HAQ score improvement by 9.2% (p=0.038). Physical activity did not influence improvement in the parameters evaluated (p>0.05). Palmar grip improvement was affected by age and presence of rhizarthritis (p<0.05); patients with unilateral rhizarthritis improved 5.3 times more than patients without the disease (p=0.015), while improvement in palmar grip strength decreased 6.8% per year (p=0.004). Pulp pinch grip strength improved more in women than in men (p=0.018). Conclusion: Patients with rhizarthritis and multiple arthritis improved quality of life and grip strength through clinical treatment, an educational program, and fat loss. Level of Evidence II; Retrospective study.

RESUMO Objetivo: Avaliar o efeito de um programa de tratamento clínico com ensino da função das mãos em pacientes com rizoartrite. Métodos: Cento e oito indivíduos com rizoartrite e poliartrose (191 mãos com rizoartrite clínico-radiográfica) acompanhados por dois anos num programa educacional sobre osteoartrite responderam os questionários SF-36, DASH e HAQ e os testes de força de preensão palmar, pinça-polpa, pinça-chave e pinça-trípode no momento da inclusão e 24 meses depois. Idade, raça, nível e frequência de atividade física, sexo, índice de massa corporal, porcentagem de gordura corpórea, grau de osteoartrite foram correlacionados aos testes realizados. Resultados: As mulheres melhoraram em menor grau que homens no HAQ (p = 0,037) e cada redução de 1% no percentual de gordura aumenta 9,2% a chance de melhora no HAQ (p = 0,038). A atividade física não influenciou a melhora dos parâmetros avaliados (p > 0,05). Idade e presença de rizoartrite influenciam a melhora da preensão palmar (p < 0,05), sendo que pacientes com rizoartrite unilateral melhoram 5,3 vezes mais que pacientes sem a doença (p = 0,015) e a melhora da preensão diminui 6,8% por ano (p = 0,004). As mulheres melhoraram em maior grau que homens na pinça-polpa (p = 0,018). Conclusão: Pacientes com rizoartrite e poliartrose têm melhor qualidade de vida e força de preensão com o tratamento clínico, programa educacional e perda de gordura. Nível de Evidência II; Estudo retrospectivo.

Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome / 中华烧伤杂志

A Marfan syndrome child with contractural arachnodactyly deformity of both hands was admitted to our unit in June 2015. The left and right middle fingers and ring fingers of the child received the continuous " Z" skin flap and " V-Y" plasty to reduce the palmar tension on the skin and release the contracture. Due to the improper therapeutic strategy and the underestimation of effect of underlying lesions of Marfan syndrome on the therapeutic strategy, the right middle finger of child was with ischemic necrosis and amputated, and the finger tip was accompanied with distension and paroxysmal neuropathic pain at a specified future date. The skin flaps of the other three surgical fingers were with local necrosis and scar healing. The child was complicated by distal interphalangeal joints stiffness and some serious complications post-discharge. Combined with this case, the similar disorders are not recommended to carry out one-stage operation.

Single-Bone Forearm Salvage Procedure for a Child with Acquired Radial Clubhand in a Resource Limited Centre: A Case Report

@#Acquired radial clubhand deformity can be a consequence of large bone gap left by premature extensive radius osteomyelitis sequestrectomy. Single-bone forearm reconstruction is a salvage procedure when other motionpreserving techniques are not feasible. Here we present a child who developed radial clubhand deformity after an untimely sequestrectomy of radius diaphysis. In view of limited microsurgical expertise in our centre, single-bone forearm procedure was done utilising simple Kirshner wires to achieve radio-ulnar fusion. The procedure resulted in painfree stable wrist, restoration of hand function and improved cosmesis.

Reconstrução tardia na mão traumatizada com perda de múltiplos dedos / Late reconstruction of a traumatized hand with loss of multiple fingers

As lesões mutilantes de mão são um desafio para o cirurgião de mão e o paciente. O cirurgião deve tomar decisões desde o debridamento inicial, escolhendo quais dedos e articulações serão preservadas e uso apropriado das partes a serem retiradas. A reconstrução tardia é a segunda parte dessa difícil tarefa. Dificuldade que se atribui à particularidade de cada lesão, do grande número de possibilidades de tratamento e seus diversos níveis de complexidade que devem ser adequados à necessidade e motivação pessoal de cada paciente. Este relato de caso apresenta uma reconstrução tardia de mão com perda de indicador e dedo médio com transplante de articulação metacarpofalângica de indicador para função de interfalangeana proximal de dedo médio.

Mutilating hand injuries are a challenge to both the hand surgeon and the patient. The surgeon must make decisions ranging from the initial debridement to which fingers and joints will be preserved and the appropriate use of the parts to be removed. Late reconstruction constitutes the second part of this difficult task. The difficulty attributed to the characteristics of each lesion, the large number of treatment possibilities, and the different levels of complexity must be adapted to the personal needs and motivation of each patient. This case report describes a late hand reconstruction with index and middle finger loss, using metacarpophalangeal joint transplantation of the index finger to gain the proximal interphalangeal function of the middle finger.