目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型...目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型、性腺病理及基因检测等资料。结果165例DSD患儿中,首诊原因以矮小(62/165,37.6%)、阴蒂肥大(33/165,20.0%)、隐睾(28/165,17.0%)、尿道下裂(24/165,14.5%)、皮肤黑和/外阴色素沉着(19/165,11.5%)较常见。127例进行了染色体核型分析,结果显示36例(28.3%)为46,XX DSD,34例(26.8%)为46,XY DSD,57例(44.9%)为性染色体异常。在性染色体异常核型中,以45,X核型(11/57,19%)和45,X伴其他核型嵌合(36/57,63%)多见。16例进行了性腺组织病理学活检,获得25份性腺组织。性腺组织活检显示3份为睾丸,3份为发育不良睾丸,6份为卵巢,11份为卵睾,条索状性腺和性腺缺如各1份。基因检测显示23例(23/36,64%)携带致病性/可能致病性变异,其中12例为CYP21A2基因致病变异导致的21-羟化酶缺乏性先天性肾上腺皮质增生症。结论矮小、阴蒂肥大、隐睾、尿道下裂、皮肤色素沉着为DSD患儿的常见表型;45,X伴其他核型嵌合和CYP21A2基因复合杂合变异是DSD患儿的主要病因;患儿性腺活检以卵睾、卵巢和睾丸/发育不良睾丸常见。展开更多
Despite significant therapeutic progress in recent years,inflammatory bowel disease(IBD),which includes Crohn’s disease and ulcerative colitis,remains a challenge regarding its pathogenesis and long-term complication...Despite significant therapeutic progress in recent years,inflammatory bowel disease(IBD),which includes Crohn’s disease and ulcerative colitis,remains a challenge regarding its pathogenesis and long-term complications.New concepts have emerged in the management of this disease,such as the"treat-totarget"concept,in which mucosal healing plays a key role in the evolution of IBD,the risk of recurrence and the need for surgery.Endoscopy is essential for the assessment of mucosal inflammation and plays a pivotal role in the analysis of mucosal healing in patients with IBD.Endoscopy is also essential in the detection of dysplasia and in the identification of the risk of colon cancer.The current surveillance strategy for dysplasia in IBD patients indicates white-light endoscopy with non-targeted biopsies.The new chromoendoscopy techniques provide substantial benefits for both clinicians and patients.Narrow-band imaging(NBI)has similar rates of dysplastic lesion detection as whitelight endoscopy,and it seems that NBI identifies more adenoma-like lesions.Because it is used instinctively by many endoscopists,the combination of these two techniques might improve the rate of dysplasia detection.Flexible spectral imaging color enhancement can help differentiate dysplastic and non-dysplastic lesions and can also predict the risk of recurrence,which allows us to modulate the treatment to gain better control of the disease.The combination of noninvasive serum and stool biomarkers with endoscopy will improve the monitoring and limit the evolution of IBD because it enables the use of a personalized approach to each patient based on that patient’s history and risk factors.展开更多
文摘目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型、性腺病理及基因检测等资料。结果165例DSD患儿中,首诊原因以矮小(62/165,37.6%)、阴蒂肥大(33/165,20.0%)、隐睾(28/165,17.0%)、尿道下裂(24/165,14.5%)、皮肤黑和/外阴色素沉着(19/165,11.5%)较常见。127例进行了染色体核型分析,结果显示36例(28.3%)为46,XX DSD,34例(26.8%)为46,XY DSD,57例(44.9%)为性染色体异常。在性染色体异常核型中,以45,X核型(11/57,19%)和45,X伴其他核型嵌合(36/57,63%)多见。16例进行了性腺组织病理学活检,获得25份性腺组织。性腺组织活检显示3份为睾丸,3份为发育不良睾丸,6份为卵巢,11份为卵睾,条索状性腺和性腺缺如各1份。基因检测显示23例(23/36,64%)携带致病性/可能致病性变异,其中12例为CYP21A2基因致病变异导致的21-羟化酶缺乏性先天性肾上腺皮质增生症。结论矮小、阴蒂肥大、隐睾、尿道下裂、皮肤色素沉着为DSD患儿的常见表型;45,X伴其他核型嵌合和CYP21A2基因复合杂合变异是DSD患儿的主要病因;患儿性腺活检以卵睾、卵巢和睾丸/发育不良睾丸常见。
文摘Despite significant therapeutic progress in recent years,inflammatory bowel disease(IBD),which includes Crohn’s disease and ulcerative colitis,remains a challenge regarding its pathogenesis and long-term complications.New concepts have emerged in the management of this disease,such as the"treat-totarget"concept,in which mucosal healing plays a key role in the evolution of IBD,the risk of recurrence and the need for surgery.Endoscopy is essential for the assessment of mucosal inflammation and plays a pivotal role in the analysis of mucosal healing in patients with IBD.Endoscopy is also essential in the detection of dysplasia and in the identification of the risk of colon cancer.The current surveillance strategy for dysplasia in IBD patients indicates white-light endoscopy with non-targeted biopsies.The new chromoendoscopy techniques provide substantial benefits for both clinicians and patients.Narrow-band imaging(NBI)has similar rates of dysplastic lesion detection as whitelight endoscopy,and it seems that NBI identifies more adenoma-like lesions.Because it is used instinctively by many endoscopists,the combination of these two techniques might improve the rate of dysplasia detection.Flexible spectral imaging color enhancement can help differentiate dysplastic and non-dysplastic lesions and can also predict the risk of recurrence,which allows us to modulate the treatment to gain better control of the disease.The combination of noninvasive serum and stool biomarkers with endoscopy will improve the monitoring and limit the evolution of IBD because it enables the use of a personalized approach to each patient based on that patient’s history and risk factors.
