BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging...BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging characteristics of this case.After 1-year treatment and follow-up,we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.CASE SUMMARY In April 2020,a 2-year-old boy with HGPS was found to have an abnormal appearance,and growth and development lagged behind those of children of the same age.The child’s weight did not increase normally,the veins of the head were clearly visible,and he had shallow skin color and sparse yellow hair.Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there was a synonymous heterozygous mutation of C.1824 C>T(P.G608G)in the LMNA gene.CONCLUSION Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.展开更多
BACKGROUND Hutchinson-Gilford progeria syndrome(HGPS)is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood.Serious cardiovascular complications can be life-threatening ...BACKGROUND Hutchinson-Gilford progeria syndrome(HGPS)is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood.Serious cardiovascular complications can be life-threatening events for affected patients and the cause of early death.Herein we report a HGPS patient with osteosarcoma hat was successfully managed and is alive 13 years after the diagnosis.This is the first report describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with HGPS.CASE SUMMARY The patient was diagnosed with HGPS at 5 years of age with typical features and was referred to our department with a suspected bone tumor of the left proximal tibia at the age of 18.Open biopsy of the tibial bone tumor revealed a conventional fibroblastic osteosarcoma.We have developed and performed a freezing technique using liquid nitrogen for tumor reconstruction.This technique overcame the small size of the tibia for megaprosthesis and avoided amputation and limb salvage was achieved 13 years post-operatively.Although the patient had a number of surgical site complications,such as wound dehiscence,and superficial and deep infections due to vulnerable skin in HGPS,no recurrence or metastases were detected for 13 years,and she walks assisted by crutches.Her general health was good at the latest follow-up at 31 years of age.CONCLUSION A HGPS patient with osteosarcoma was successfully managed and she was alive 13 years after the diagnosis.展开更多
Hutchinson-Gilford progeria syndrome(HGPS,OMIM176670)is an extremely rare,sporadic genetic syndrome with a reported prevalence of one in4-8million children worldwide.At April2012,the total number of known living child...Hutchinson-Gilford progeria syndrome(HGPS,OMIM176670)is an extremely rare,sporadic genetic syndrome with a reported prevalence of one in4-8million children worldwide.At April2012,the total number of known living children with HGPS was89worldwide,according to data from the Progeria Research Foundation.展开更多
Background Hutchinson-Gilford progeria syndrome(HGPS) is a rare disorder characterized by premature aging and death mainly because of myocardial infarction, stroke, or heart failure. Patients with HGPS are healthy at ...Background Hutchinson-Gilford progeria syndrome(HGPS) is a rare disorder characterized by premature aging and death mainly because of myocardial infarction, stroke, or heart failure. Patients with HGPS are healthy at birth, then get growth impairment, such as loss of subcutaneous fat, alopecia, osteoporosis and heart diseases in 1-2years. HGPS is caused by progerin, which is a toxic form of lamin A expressed in most differentiated cells. Here, we discuss current views about the molecular mechanisms, the mouse models and the treatment approaches of HGPS.We summarize the work in this area and provide directions and clues for future studies.展开更多
Aim: To present the heterotopic ossification of left-sided heart valves due to rheumatic inflammation and biomineralization. Introduction: Calcification in the region of mitral-aortic continuity is significant at its ...Aim: To present the heterotopic ossification of left-sided heart valves due to rheumatic inflammation and biomineralization. Introduction: Calcification in the region of mitral-aortic continuity is significant at its origin and etiopathogenesis. The etiology of valvular calcification may be divided into 3 groups, namely, inflammation, degeneration and metabolic disturbances. Calcification of cardiac valve leaflets is most often due to rheumatic etiology in tropical nations. Case Report: A 52-year-old male developed sudden onset of light-headedness and palpitations due to atrial fibrillation. Transthoracic 2D echocardiography revealed calcification of anterior mitral leaflet and aortic valve which resembles a bone-like structure and the patient was advised double valve replacement. Conclusion: It was known that the cellular mechanisms play an important role in its genesis and therapeutic strategies are targeted to reverse this process by understanding its biological mediators.展开更多
文摘Hutch inson-G ilford早老症(HGPS)为一种极为罕见的遗传性疾病,发生率1/8000000,特征性表现为患儿以极快速度衰老,多数死于冠脉病变引起的心肌梗死或广泛动脉粥样硬化导致的卒中,平均寿命13岁。绝大多数HGPS病例病因为LMNA基因第11个外显子发生点突变(G608G),生成的突变lam in A由显性负效应造成细胞核结构和功能受损。目前该病已有几种动物模型,实验性治疗可以在体外将出泡的细胞核恢复正常。HGPS是研究衰老和心血管疾病机制的一个极好的模型。
基金Supported by Hainan Province Clinical Medical Center,No.(2021)75 and No.(2021)276.
文摘BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging characteristics of this case.After 1-year treatment and follow-up,we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.CASE SUMMARY In April 2020,a 2-year-old boy with HGPS was found to have an abnormal appearance,and growth and development lagged behind those of children of the same age.The child’s weight did not increase normally,the veins of the head were clearly visible,and he had shallow skin color and sparse yellow hair.Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there was a synonymous heterozygous mutation of C.1824 C>T(P.G608G)in the LMNA gene.CONCLUSION Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.
文摘BACKGROUND Hutchinson-Gilford progeria syndrome(HGPS)is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood.Serious cardiovascular complications can be life-threatening events for affected patients and the cause of early death.Herein we report a HGPS patient with osteosarcoma hat was successfully managed and is alive 13 years after the diagnosis.This is the first report describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with HGPS.CASE SUMMARY The patient was diagnosed with HGPS at 5 years of age with typical features and was referred to our department with a suspected bone tumor of the left proximal tibia at the age of 18.Open biopsy of the tibial bone tumor revealed a conventional fibroblastic osteosarcoma.We have developed and performed a freezing technique using liquid nitrogen for tumor reconstruction.This technique overcame the small size of the tibia for megaprosthesis and avoided amputation and limb salvage was achieved 13 years post-operatively.Although the patient had a number of surgical site complications,such as wound dehiscence,and superficial and deep infections due to vulnerable skin in HGPS,no recurrence or metastases were detected for 13 years,and she walks assisted by crutches.Her general health was good at the latest follow-up at 31 years of age.CONCLUSION A HGPS patient with osteosarcoma was successfully managed and she was alive 13 years after the diagnosis.
文摘Hutchinson-Gilford progeria syndrome(HGPS,OMIM176670)is an extremely rare,sporadic genetic syndrome with a reported prevalence of one in4-8million children worldwide.At April2012,the total number of known living children with HGPS was89worldwide,according to data from the Progeria Research Foundation.
基金sponsored by grants from the National key R&D Program of China (No. 2018YFA0108700,No. 2017YFA0105602, No. 2018YFA0108100)National Natural Science Foundation of China (No. 81720108004, NO. 81974019, No. 31871474)+4 种基金the Research Team Project of Natural Science Foundation of Guangdong Province of China (No. 2017A030312007)Science and Technology Planning Project of Guangdong Province (No. 2022B1212010010)the Key Program of Guangzhou Science Research Plan (No. 201904020047)The Special Project of Dengfeng Program of Guangdong Provincial People's Hospital (No. DFJH201812, NO. KJ012019 119, No.KJ012019423)the Shanghai Tech University start-up fund。
文摘Background Hutchinson-Gilford progeria syndrome(HGPS) is a rare disorder characterized by premature aging and death mainly because of myocardial infarction, stroke, or heart failure. Patients with HGPS are healthy at birth, then get growth impairment, such as loss of subcutaneous fat, alopecia, osteoporosis and heart diseases in 1-2years. HGPS is caused by progerin, which is a toxic form of lamin A expressed in most differentiated cells. Here, we discuss current views about the molecular mechanisms, the mouse models and the treatment approaches of HGPS.We summarize the work in this area and provide directions and clues for future studies.
文摘Aim: To present the heterotopic ossification of left-sided heart valves due to rheumatic inflammation and biomineralization. Introduction: Calcification in the region of mitral-aortic continuity is significant at its origin and etiopathogenesis. The etiology of valvular calcification may be divided into 3 groups, namely, inflammation, degeneration and metabolic disturbances. Calcification of cardiac valve leaflets is most often due to rheumatic etiology in tropical nations. Case Report: A 52-year-old male developed sudden onset of light-headedness and palpitations due to atrial fibrillation. Transthoracic 2D echocardiography revealed calcification of anterior mitral leaflet and aortic valve which resembles a bone-like structure and the patient was advised double valve replacement. Conclusion: It was known that the cellular mechanisms play an important role in its genesis and therapeutic strategies are targeted to reverse this process by understanding its biological mediators.
