BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varyin...BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying degrees.Although the same variation locus have been reported,the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder,palmoplantar keratosis,and congenital hypotrichosis.CASE SUMMARY This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED.The proband(IV4)was a male patient with normal sweat gland function and dental development,no skeletal dysplasia,no cognitive disability,and no hearing impairments.His parents were not consanguineously married.Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longit-udinal ridges,in addition to mild bilateral palmoplantar hyperkeratosis.GJB6,GJB2,and GJA1 have been reported to be the causative genes of HED;therefore,we subjected the patient’s samples to Sanger sequencing of these three genes.In this family,the variation locus was at GJB6(c.31G>A,p.Gly11Arg).Overex-pression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models,and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot,respectively.CONCLUSION We report another HED phenotype associated with GJB6 variations,which can help clinicians to diagnose HED despite its varying presentations.展开更多
There is uncertain result with regard to the use of inhalation or instillation steroids to prevent bronchopulmonary dysplasia in preterm infants. This meta-analysis was designed to evaluate the efficacy and safety of ...There is uncertain result with regard to the use of inhalation or instillation steroids to prevent bronchopulmonary dysplasia in preterm infants. This meta-analysis was designed to evaluate the efficacy and safety of early airway administration (within 2 days after birth) of corticosteroids and pulmonary surfactant (PS) for preventing bronchopulmonary dysplasia (BPD) in premature infants with neonatal respiratory distress syndrome (NRDS). The related studies were retrieved in PubMed, EMBASE, the Cochrane Library, Clinical Trial, CNKI, Wanfang and VIP Database from inception to August 2018. Two reviewers independently screened the studies to ensure that all patients with diagnosis of NRDS were enrolled to studies within 1 day after birth, assessed the quality of included studies by GRADEpro system and extracted the data for review. The meta-analysis was performed by RevMan 5.2 software. A subgroup analysis about inhaled corticosteroid (ICS) delivery method was made between ICS inhalation subgroup [inhalation of ICS by nebulizer or metered dose inhaler (MDI)] and ICS intratracheal instillation subgroup (PS used as a vehicle). Eight randomized controlled trials were enrolled in the meta-analysis, 5 trials of which stated the randomized method, grouping and blinded method, and the follow-up procedures were reported. GRADEpro system showed high quality of 4 trials (5 articles), and the rest 4 trials had moderate quality. Meta-analysis showed that the incidence of BPD was decreased in ICS group, the relative risk (RR) was 0.56 (95% CI: 0.42-0.76), and similar trends were found in ICS inhalation subgroup and ICS intratracheal instillation subgroup, with the corresponding RR being 0.58 (95% CI: 0.41-0.82) and 0.47 (95% CI: 0.24-0.95) respectively. ICS could also significantly reduce the mortality risk as compared with placebo control group (RR: 0.67;95% CI: 0.45-0.99), with RR of ICS inhalation subgroup and ICS intratracheal instillation subgroup being 0.81 (95% CI: 0.34-1.94) and 0.64 (95% CI: 0.41-0.99) respectively. Moreover, the percentage of infants using PS more than one time was lower in ICS group than in the placebo control group, with the RR and 95% CI being 0.55 (95% CI: 0.45-0.67), and that in ICS intratracheal instillation subgroup lower than in ICS inhalation subgroup (RR: 0.56;95% CI: 0.45-0.69, and RR: 0.35;95% CI:0.08-1.52 respectively). There was no significant difference in the incidence of infection or retinopathy of prematurity and neuro-motor system impairment between ICS group and placebo control group, with the corresponding RR being 0.95 (95% CI:0.59-1.52), 0.92 (95% CI: 0.62-1.38) and 1.13 (95% CI: 0.92-1.39), respectively. It was concluded that early administration of ICS and PS is an effective and safe option for preterm infants with NRDS in preventing BPD and reducing mortality, decreasing the additional PS usage, especially for the ICS intratracheal instillation subgroup. Furthermore, the appropriate dose and duration of ICS, combined use of inhalation or instillation of ICS with PS and the long-term safety of airway administration of corticosteroids need to be assessed in large trials.展开更多
AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing wit...AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations.CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.展开更多
The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration a...The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration and acceptance of conventional prosthetic occlusal rehabilitation. The use of implants is an integral part of early treatment, in the regions of stable growth, that is to say symphysis. In two childs of 5 and 6 years we have made implant-borne prosthetic rehabilitation in the maxilla and the mandible. Aesthetic and social evaluation were positive. We have restored the normal oro-facial functions for the correct development of skeletal bases. They acted as an external fixator intraoral, stimulating the growth by the function. Our question was: can we leave a child throughout his childhood and adolescence with a not suitable removable prosthesis, under the pretext of growth unfinished?展开更多
Ectodermal dysplasia is a rare disease with involvement of teeth,skin and appendages. We report a 2 year old boy presenting with recurrent fever,scarce facial and scalp hair and absence of sweating. Skin and hair biop...Ectodermal dysplasia is a rare disease with involvement of teeth,skin and appendages. We report a 2 year old boy presenting with recurrent fever,scarce facial and scalp hair and absence of sweating. Skin and hair biopsies were suggestive of hypohidrotic ectodermal dysplasia.展开更多
Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and in...Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.展开更多
Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression an...Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression and penetrance.The management of this syndrome is challenging,with few reports in the medical literature.We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.展开更多
目的探讨血乳酸水平对新生儿呼吸窘迫综合征(NRDS)并发支气管肺发育不良(BPD)的影响及预测价值。方法选择2019年1月至2022年12月平顶山市第一人民医院收治的78例NRDS患儿为研究对象,依据是否并发BPD将患儿分为BPD组和非BPD组。采集患儿...目的探讨血乳酸水平对新生儿呼吸窘迫综合征(NRDS)并发支气管肺发育不良(BPD)的影响及预测价值。方法选择2019年1月至2022年12月平顶山市第一人民医院收治的78例NRDS患儿为研究对象,依据是否并发BPD将患儿分为BPD组和非BPD组。采集患儿的一般临床资料,包括:胎龄、性别、出生体质量、1 min Apgar评分、5 min Apgar评分、胎膜早破情况。入院时,抽取患儿动脉血1 mL,使用JM1113-739853型血气分析仪检测血乳酸水平、动脉血氧分压(PaO_(2))、动脉血二氧化碳分压(PaCO_(2))、pH值及氧合指数(OI);抽取患儿外周静脉血3 mL,应用酶联免疫吸附法检测血清中白细胞介素-6(IL-6)水平,双抗体夹心法检测血浆中C-反应蛋白(CRP)和降钙素原(PCT)水平。比较2组患儿的一般资料和血乳酸水平、PaO_(2)、PaCO_(2)、pH值、OI及血清IL-6水平、血浆CRP、PCT水平,采用点二列相关性分析血乳酸水平与NRDS并发BPD的相关性,使用logistic回归分析NRDS并发BPD的影响因素,受试者操作特征曲线分析血乳酸水平对NRDS并发BPD的预测价值。结果78例RDS患儿血乳酸水平为3.35~6.64(5.04±0.72)mmol·L^(-1);发生BPD的患儿16例,BPD发生率为20.51%(16/78)。BPD组患儿出生体质量、OI显著低于非BPD组,血清IL-6、血浆CRP、血乳酸水平显著高于非BPD组(P<0.05)。2组患儿的胎龄、性别、1 min Apgar评分、5 min Apgar评分、胎膜早破、PaO_(2)、PaCO_(2)、pH值、PCT比较差异无统计学意义(P>0.05)。点二列相关性分析结果显示,血乳酸、血清IL-6、血浆CRP水平与NRDS发生BPD的风险呈正相关(r=0.502、0.475、0.507,P<0.05),出生体质量、OI与NRDS发生BPD的风险呈负相关(r=-0.242、-0.403,P<0.05)。Logistic回归分析结果显示,血乳酸堆积、血清IL-6高表达、血浆CRP高表达、OI值降低是导致NRDS发生BPD风险增加的危险因素(P<0.05)。血乳酸预测NRDS患儿并发BPD的曲线下面积为0.865,95%置信区间为0.776~0.955;当血乳酸截断值为5.065 mmol·L^(-1)时,预测NRDS患儿并发BPD的敏感度为0.938,特异度为0.501。结论NRDS患儿血乳酸水平与BPD发生风险呈正相关,血乳酸堆积是NRDS并发BPD的危险因素,血乳酸水平对NRDS并发BPD有一定预测价值。展开更多
文摘BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying degrees.Although the same variation locus have been reported,the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder,palmoplantar keratosis,and congenital hypotrichosis.CASE SUMMARY This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED.The proband(IV4)was a male patient with normal sweat gland function and dental development,no skeletal dysplasia,no cognitive disability,and no hearing impairments.His parents were not consanguineously married.Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longit-udinal ridges,in addition to mild bilateral palmoplantar hyperkeratosis.GJB6,GJB2,and GJA1 have been reported to be the causative genes of HED;therefore,we subjected the patient’s samples to Sanger sequencing of these three genes.In this family,the variation locus was at GJB6(c.31G>A,p.Gly11Arg).Overex-pression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models,and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot,respectively.CONCLUSION We report another HED phenotype associated with GJB6 variations,which can help clinicians to diagnose HED despite its varying presentations.
文摘There is uncertain result with regard to the use of inhalation or instillation steroids to prevent bronchopulmonary dysplasia in preterm infants. This meta-analysis was designed to evaluate the efficacy and safety of early airway administration (within 2 days after birth) of corticosteroids and pulmonary surfactant (PS) for preventing bronchopulmonary dysplasia (BPD) in premature infants with neonatal respiratory distress syndrome (NRDS). The related studies were retrieved in PubMed, EMBASE, the Cochrane Library, Clinical Trial, CNKI, Wanfang and VIP Database from inception to August 2018. Two reviewers independently screened the studies to ensure that all patients with diagnosis of NRDS were enrolled to studies within 1 day after birth, assessed the quality of included studies by GRADEpro system and extracted the data for review. The meta-analysis was performed by RevMan 5.2 software. A subgroup analysis about inhaled corticosteroid (ICS) delivery method was made between ICS inhalation subgroup [inhalation of ICS by nebulizer or metered dose inhaler (MDI)] and ICS intratracheal instillation subgroup (PS used as a vehicle). Eight randomized controlled trials were enrolled in the meta-analysis, 5 trials of which stated the randomized method, grouping and blinded method, and the follow-up procedures were reported. GRADEpro system showed high quality of 4 trials (5 articles), and the rest 4 trials had moderate quality. Meta-analysis showed that the incidence of BPD was decreased in ICS group, the relative risk (RR) was 0.56 (95% CI: 0.42-0.76), and similar trends were found in ICS inhalation subgroup and ICS intratracheal instillation subgroup, with the corresponding RR being 0.58 (95% CI: 0.41-0.82) and 0.47 (95% CI: 0.24-0.95) respectively. ICS could also significantly reduce the mortality risk as compared with placebo control group (RR: 0.67;95% CI: 0.45-0.99), with RR of ICS inhalation subgroup and ICS intratracheal instillation subgroup being 0.81 (95% CI: 0.34-1.94) and 0.64 (95% CI: 0.41-0.99) respectively. Moreover, the percentage of infants using PS more than one time was lower in ICS group than in the placebo control group, with the RR and 95% CI being 0.55 (95% CI: 0.45-0.67), and that in ICS intratracheal instillation subgroup lower than in ICS inhalation subgroup (RR: 0.56;95% CI: 0.45-0.69, and RR: 0.35;95% CI:0.08-1.52 respectively). There was no significant difference in the incidence of infection or retinopathy of prematurity and neuro-motor system impairment between ICS group and placebo control group, with the corresponding RR being 0.95 (95% CI:0.59-1.52), 0.92 (95% CI: 0.62-1.38) and 1.13 (95% CI: 0.92-1.39), respectively. It was concluded that early administration of ICS and PS is an effective and safe option for preterm infants with NRDS in preventing BPD and reducing mortality, decreasing the additional PS usage, especially for the ICS intratracheal instillation subgroup. Furthermore, the appropriate dose and duration of ICS, combined use of inhalation or instillation of ICS with PS and the long-term safety of airway administration of corticosteroids need to be assessed in large trials.
基金Supported by Zhejiang Provincial Natural Science Foundation of China (No.LY19H120005)。
文摘AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations.CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.
文摘The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration and acceptance of conventional prosthetic occlusal rehabilitation. The use of implants is an integral part of early treatment, in the regions of stable growth, that is to say symphysis. In two childs of 5 and 6 years we have made implant-borne prosthetic rehabilitation in the maxilla and the mandible. Aesthetic and social evaluation were positive. We have restored the normal oro-facial functions for the correct development of skeletal bases. They acted as an external fixator intraoral, stimulating the growth by the function. Our question was: can we leave a child throughout his childhood and adolescence with a not suitable removable prosthesis, under the pretext of growth unfinished?
文摘Ectodermal dysplasia is a rare disease with involvement of teeth,skin and appendages. We report a 2 year old boy presenting with recurrent fever,scarce facial and scalp hair and absence of sweating. Skin and hair biopsies were suggestive of hypohidrotic ectodermal dysplasia.
文摘Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.
文摘Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression and penetrance.The management of this syndrome is challenging,with few reports in the medical literature.We present a case of a 22-year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome.
文摘目的探讨血乳酸水平对新生儿呼吸窘迫综合征(NRDS)并发支气管肺发育不良(BPD)的影响及预测价值。方法选择2019年1月至2022年12月平顶山市第一人民医院收治的78例NRDS患儿为研究对象,依据是否并发BPD将患儿分为BPD组和非BPD组。采集患儿的一般临床资料,包括:胎龄、性别、出生体质量、1 min Apgar评分、5 min Apgar评分、胎膜早破情况。入院时,抽取患儿动脉血1 mL,使用JM1113-739853型血气分析仪检测血乳酸水平、动脉血氧分压(PaO_(2))、动脉血二氧化碳分压(PaCO_(2))、pH值及氧合指数(OI);抽取患儿外周静脉血3 mL,应用酶联免疫吸附法检测血清中白细胞介素-6(IL-6)水平,双抗体夹心法检测血浆中C-反应蛋白(CRP)和降钙素原(PCT)水平。比较2组患儿的一般资料和血乳酸水平、PaO_(2)、PaCO_(2)、pH值、OI及血清IL-6水平、血浆CRP、PCT水平,采用点二列相关性分析血乳酸水平与NRDS并发BPD的相关性,使用logistic回归分析NRDS并发BPD的影响因素,受试者操作特征曲线分析血乳酸水平对NRDS并发BPD的预测价值。结果78例RDS患儿血乳酸水平为3.35~6.64(5.04±0.72)mmol·L^(-1);发生BPD的患儿16例,BPD发生率为20.51%(16/78)。BPD组患儿出生体质量、OI显著低于非BPD组,血清IL-6、血浆CRP、血乳酸水平显著高于非BPD组(P<0.05)。2组患儿的胎龄、性别、1 min Apgar评分、5 min Apgar评分、胎膜早破、PaO_(2)、PaCO_(2)、pH值、PCT比较差异无统计学意义(P>0.05)。点二列相关性分析结果显示,血乳酸、血清IL-6、血浆CRP水平与NRDS发生BPD的风险呈正相关(r=0.502、0.475、0.507,P<0.05),出生体质量、OI与NRDS发生BPD的风险呈负相关(r=-0.242、-0.403,P<0.05)。Logistic回归分析结果显示,血乳酸堆积、血清IL-6高表达、血浆CRP高表达、OI值降低是导致NRDS发生BPD风险增加的危险因素(P<0.05)。血乳酸预测NRDS患儿并发BPD的曲线下面积为0.865,95%置信区间为0.776~0.955;当血乳酸截断值为5.065 mmol·L^(-1)时,预测NRDS患儿并发BPD的敏感度为0.938,特异度为0.501。结论NRDS患儿血乳酸水平与BPD发生风险呈正相关,血乳酸堆积是NRDS并发BPD的危险因素,血乳酸水平对NRDS并发BPD有一定预测价值。
