Congenital radial club hand (CRCH) is a terminal deficiency characterized by the radial deviation of the hand, marked shortening of the forearm, and generalized underdevelopment of the extremity with an incidence rate...Congenital radial club hand (CRCH) is a terminal deficiency characterized by the radial deviation of the hand, marked shortening of the forearm, and generalized underdevelopment of the extremity with an incidence rate of 1 per 100,000 live births. Both sexes are nearly or equally affected. Challenges that the disease poses to the patient are multifaceted, ranging from medical, social, cosmetic and functional issues which also are the multidimensional treatment modalities. We report a case of a 2-month-old baby with the severe case of bilateral CRCH. The patient had the centralization of the left ulna with Kwire stabilization. About 160d of correction was achieved. He did well and was discharged after two weeks at the orthopedic clinic for follow-up. Congenital radial club hand though uncommon may be amenable to surgery. Centralization is still the treatment of choice in severe cases and early intervention will offer a better outcome.展开更多
Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart disease （CHD） and the correlation betw...Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart disease （CHD） and the correlation between the HAND2 genotype and CHD phenotype have not been studied extensively. Methods We amplified the exons and the flanking intron sequences of the HAND2gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic artery or cardiac cushion and confirmed the mutations by sequencing. Results Seven mutations including three missense mutations （P11R, S36N and V83L）, one isonymous mutation （H14H） and three mutations in untranslated region （241A〉G, 604C〉T and 3237T〉A） were identified in 12 out of the 131 patients. Both nonisonymous mutations are located in the transcriptional activation domain on the N-terminus. Only one mutation （S36N） was identified in 250 normal healthy controls. The distribution of 3637T〉A is the unique one which was different between the 2 groups. Conclusions HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract. Further study of those with a family history of HAND2 mutations will help convincingly relate their genotype to the pathogenesis of CHD.展开更多
Congenital heart disease(CHD)is the most common birth defect worldwide.Long non-coding RNAs(lncRNAs)have been implicated in many diseases.However,their involvement in CHD is not well understood.This study aimed to inv...Congenital heart disease(CHD)is the most common birth defect worldwide.Long non-coding RNAs(lncRNAs)have been implicated in many diseases.However,their involvement in CHD is not well understood.This study aimed to investigate the role of dysregulated lncRNAs in CHD.We used Gene Expression Omnibus data mining,bioinformatics analysis,and analysis of clinical tissue samples and observed that the novel lncRNA SAP30-2:1 with unknown function was significantly downregulated in damaged cardiac tissues from patients with CHD.Knockdown of lncRNA SAP30-2:1 inhibited the proliferation of human embryonic kidney and AC16 cells and decreased the expression of heart and neural crest derivatives expressed 2(HAND2).Moreover,lncRNA SAP30-2:1 was associated with HAND2 by RNA immunoprecipitation.Overall,these results suggest that lncRNA SAP30-2:1 may be involved in heart development through affecting cell proliferation via targeting HAND2 and may thus represent a novel therapeutic target for CHD.展开更多
A seven-month old female presented with left tibial hemimelia(or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot(congenital talipes equinovarus)....A seven-month old female presented with left tibial hemimelia(or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot(congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-ray s, and computed to mography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, andno middle or distal phalanges for fifth toe. The fibula articulated with the anteromedial calcaneus and the tibia was completely absent. We identified numerous muscles and nerves in the superficial dissection that are described in the results section of the case report. Due to the rarity of this combination of anatomical findings, descriptions of such cases are very infrequent in the literature.展开更多
Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one ...Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic;however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.展开更多
目的：总结各种心内、心外分流性疾病右心声学造影的不同表现,明确右心声学造影的临床价值。方法：回顾性分析我院2006-2014年期间行右心声学造影检查的102例受检者的超声表现。造影剂为9 ml 50%葡萄糖注射液与1ml空气混合形成的手振50...目的：总结各种心内、心外分流性疾病右心声学造影的不同表现,明确右心声学造影的临床价值。方法：回顾性分析我院2006-2014年期间行右心声学造影检查的102例受检者的超声表现。造影剂为9 ml 50%葡萄糖注射液与1ml空气混合形成的手振50%葡萄糖溶液。结果：检出分流性疾病49例,包括右向左或双向分流房间隔缺损8例、左向右分流房间隔缺损7例、卵圆孔未闭伴功能性右向左分流9例、动脉导管未闭合并肺动脉高压13例、肺动静脉瘘3例、永存左上腔静脉引流入冠状静脉窦8例、引流入左心房1例。结论：右心声学造影能够简便、有效地检出合并肺动脉高压患者心内、心外异常分流,提高先天性心脏病诊断的准确性,是一项重要且实用的辅助诊断方法。展开更多
文摘Congenital radial club hand (CRCH) is a terminal deficiency characterized by the radial deviation of the hand, marked shortening of the forearm, and generalized underdevelopment of the extremity with an incidence rate of 1 per 100,000 live births. Both sexes are nearly or equally affected. Challenges that the disease poses to the patient are multifaceted, ranging from medical, social, cosmetic and functional issues which also are the multidimensional treatment modalities. We report a case of a 2-month-old baby with the severe case of bilateral CRCH. The patient had the centralization of the left ulna with Kwire stabilization. About 160d of correction was achieved. He did well and was discharged after two weeks at the orthopedic clinic for follow-up. Congenital radial club hand though uncommon may be amenable to surgery. Centralization is still the treatment of choice in severe cases and early intervention will offer a better outcome.
基金This work was supported by a grant from the National Natural Science Foundation of China （No. 30672193）.Acknowledgements： We are grateful to the patients and their families for the cooperation, to the members of the Paediatric Heart Centre for support and staff of the Central Laboratory of Molecular Biology for the technical assistance. We specially thank Dr. ZHU Xiao-quan for the excellent advice and assistance and Dr. ZHANG Wei-min for helpful patient information.
文摘Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart disease （CHD） and the correlation between the HAND2 genotype and CHD phenotype have not been studied extensively. Methods We amplified the exons and the flanking intron sequences of the HAND2gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic artery or cardiac cushion and confirmed the mutations by sequencing. Results Seven mutations including three missense mutations （P11R, S36N and V83L）, one isonymous mutation （H14H） and three mutations in untranslated region （241A〉G, 604C〉T and 3237T〉A） were identified in 12 out of the 131 patients. Both nonisonymous mutations are located in the transcriptional activation domain on the N-terminus. Only one mutation （S36N） was identified in 250 normal healthy controls. The distribution of 3637T〉A is the unique one which was different between the 2 groups. Conclusions HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract. Further study of those with a family history of HAND2 mutations will help convincingly relate their genotype to the pathogenesis of CHD.
基金supported by grants from the National Key Research and Development Program of China(No.2016YFC1000500)the National Science Foundation for Young Scientists(No.81801501)the Postdo ctoral Science Foundation of China(No.2018M632026).
文摘Congenital heart disease(CHD)is the most common birth defect worldwide.Long non-coding RNAs(lncRNAs)have been implicated in many diseases.However,their involvement in CHD is not well understood.This study aimed to investigate the role of dysregulated lncRNAs in CHD.We used Gene Expression Omnibus data mining,bioinformatics analysis,and analysis of clinical tissue samples and observed that the novel lncRNA SAP30-2:1 with unknown function was significantly downregulated in damaged cardiac tissues from patients with CHD.Knockdown of lncRNA SAP30-2:1 inhibited the proliferation of human embryonic kidney and AC16 cells and decreased the expression of heart and neural crest derivatives expressed 2(HAND2).Moreover,lncRNA SAP30-2:1 was associated with HAND2 by RNA immunoprecipitation.Overall,these results suggest that lncRNA SAP30-2:1 may be involved in heart development through affecting cell proliferation via targeting HAND2 and may thus represent a novel therapeutic target for CHD.
文摘A seven-month old female presented with left tibial hemimelia(or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot(congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-ray s, and computed to mography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, andno middle or distal phalanges for fifth toe. The fibula articulated with the anteromedial calcaneus and the tibia was completely absent. We identified numerous muscles and nerves in the superficial dissection that are described in the results section of the case report. Due to the rarity of this combination of anatomical findings, descriptions of such cases are very infrequent in the literature.
文摘Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic;however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.
文摘目的：总结各种心内、心外分流性疾病右心声学造影的不同表现,明确右心声学造影的临床价值。方法：回顾性分析我院2006-2014年期间行右心声学造影检查的102例受检者的超声表现。造影剂为9 ml 50%葡萄糖注射液与1ml空气混合形成的手振50%葡萄糖溶液。结果：检出分流性疾病49例,包括右向左或双向分流房间隔缺损8例、左向右分流房间隔缺损7例、卵圆孔未闭伴功能性右向左分流9例、动脉导管未闭合并肺动脉高压13例、肺动静脉瘘3例、永存左上腔静脉引流入冠状静脉窦8例、引流入左心房1例。结论：右心声学造影能够简便、有效地检出合并肺动脉高压患者心内、心外异常分流,提高先天性心脏病诊断的准确性,是一项重要且实用的辅助诊断方法。
