Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited h...Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited hand disorders.It can be divided into two major groups:Non-syndromic polydactyly or syndromic polydactyly.According to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial forms.Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.There are several forms of polydactyly,including hand and foot extra digit manifestations.The deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the right.The treatment is always surgical.Since the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of polydactyly.The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders.Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders.展开更多
BACKGROUND Microvessel density(MVD)has been proposed as a direct quantification method of tumor neovascularization.However,the current literature regarding the role of MVD in differentiated thyroid carcinoma(DTC)remai...BACKGROUND Microvessel density(MVD)has been proposed as a direct quantification method of tumor neovascularization.However,the current literature regarding the role of MVD in differentiated thyroid carcinoma(DTC)remains inconclusive.AIM To appraise the effect of tumoral MVD on the survival of patients with DTC.METHODS This meta-analysis was based on the PRISMA guidelines and the Cochrane Handbook for Systematic Reviews of Interventions.The electronic databases Medline,Web of Science,and Scopus were systematically screened.A fixedeffects or random-effects model was used,according to the Cochran Q test.The data were then extracted and assessed on the basis of the Reference Citation Analysis(https://www.referencecitationanalysis.com/).RESULTS A total of nine studies were included in the present study.Superiority of low MVD tumors in terms of 10-year disease free survival(OR:0.21,95%CI:0.08–0.53)was recorded.Lowly vascularized thyroid cancers had a lower recurrence rate(OR:13.66,95%CI:3.03–61.48).Moreover,relapsing tumors[weighed mean difference(WMD):11.92,95%CI:6.32–17.52]or malignancies with regional lymph node involvement(WMD:8.53,95%CI:0.04–17.02)presented with higher tumoral MVD values.CONCLUSION MVD significantly correlates with the survival outcomes of thyroid cancer patients.However,considering several study limitations,further prospective studies of higher methodological and quality level are required.展开更多
Congenital anomalies of the hand are malformations occurring during the development of the human limb,and present as isolated disorders or as a part of a syndrome.During the last years,molecular analysis techniques ha...Congenital anomalies of the hand are malformations occurring during the development of the human limb,and present as isolated disorders or as a part of a syndrome.During the last years,molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations.Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity.At present,several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them.Different and new high throughput methods have been introduced for the identification of the gene mutations.In the current editorial,we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics,including the genes related to the disorder.This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.展开更多
文摘Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited hand disorders.It can be divided into two major groups:Non-syndromic polydactyly or syndromic polydactyly.According to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial forms.Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.There are several forms of polydactyly,including hand and foot extra digit manifestations.The deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the right.The treatment is always surgical.Since the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of polydactyly.The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders.Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders.
文摘BACKGROUND Microvessel density(MVD)has been proposed as a direct quantification method of tumor neovascularization.However,the current literature regarding the role of MVD in differentiated thyroid carcinoma(DTC)remains inconclusive.AIM To appraise the effect of tumoral MVD on the survival of patients with DTC.METHODS This meta-analysis was based on the PRISMA guidelines and the Cochrane Handbook for Systematic Reviews of Interventions.The electronic databases Medline,Web of Science,and Scopus were systematically screened.A fixedeffects or random-effects model was used,according to the Cochran Q test.The data were then extracted and assessed on the basis of the Reference Citation Analysis(https://www.referencecitationanalysis.com/).RESULTS A total of nine studies were included in the present study.Superiority of low MVD tumors in terms of 10-year disease free survival(OR:0.21,95%CI:0.08–0.53)was recorded.Lowly vascularized thyroid cancers had a lower recurrence rate(OR:13.66,95%CI:3.03–61.48).Moreover,relapsing tumors[weighed mean difference(WMD):11.92,95%CI:6.32–17.52]or malignancies with regional lymph node involvement(WMD:8.53,95%CI:0.04–17.02)presented with higher tumoral MVD values.CONCLUSION MVD significantly correlates with the survival outcomes of thyroid cancer patients.However,considering several study limitations,further prospective studies of higher methodological and quality level are required.
文摘Congenital anomalies of the hand are malformations occurring during the development of the human limb,and present as isolated disorders or as a part of a syndrome.During the last years,molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations.Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity.At present,several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them.Different and new high throughput methods have been introduced for the identification of the gene mutations.In the current editorial,we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics,including the genes related to the disorder.This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.
