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
Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started e...Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started early during his childhood period. There is canseguanity between the patient’s mother & father also one of the patient’s sister has similar illness and one male brother died few months following his birth. We admit the patient to hospital due acute pulmonary infection in Jan 2009, which is controlled after a course of antibiotic and after 5 months he develops generalised mucocuteneous bullous eruption which shows partial response to oral prednisolone 2 mg/Kg. The patient has normal IQ and he is in the secondary school and he has normal blood picture and the only abnormal biochemical abnormalities is mild hyperlipidemia Serum cholestrol of 5.8 mmol/L and Serum Triglyceride of 260 mg/dl. Ammar’s Sister Qawthar A., who has a similar phenotypic manifestations, presented skin vitiligo and hepatosplenomegaly associated with sever anemia and jaundice and her presentation suggestive of autoimmune haemolytic anemia improved following blood transfusion, corticosteroid and azothioprim. In February 2014 Ammer presented with multiple and diffuse cuteneous ecchymymosis with markedly prolonged PTT and slightly proloned bleeding time highly consistent with acquired Von Willebrand’s disease. In conclusion premature aging is a predisposing factor for disturbed immunity and development of autoimmune diseases.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
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Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started early during his childhood period. There is canseguanity between the patient’s mother & father also one of the patient’s sister has similar illness and one male brother died few months following his birth. We admit the patient to hospital due acute pulmonary infection in Jan 2009, which is controlled after a course of antibiotic and after 5 months he develops generalised mucocuteneous bullous eruption which shows partial response to oral prednisolone 2 mg/Kg. The patient has normal IQ and he is in the secondary school and he has normal blood picture and the only abnormal biochemical abnormalities is mild hyperlipidemia Serum cholestrol of 5.8 mmol/L and Serum Triglyceride of 260 mg/dl. Ammar’s Sister Qawthar A., who has a similar phenotypic manifestations, presented skin vitiligo and hepatosplenomegaly associated with sever anemia and jaundice and her presentation suggestive of autoimmune haemolytic anemia improved following blood transfusion, corticosteroid and azothioprim. In February 2014 Ammer presented with multiple and diffuse cuteneous ecchymymosis with markedly prolonged PTT and slightly proloned bleeding time highly consistent with acquired Von Willebrand’s disease. In conclusion premature aging is a predisposing factor for disturbed immunity and development of autoimmune diseases.
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.
文摘目的探讨切伦科夫光学显像在棕色脂肪组织代谢研究中的应用价值,并评估早衰小鼠棕色脂肪组织的代谢活性变化。方法以早衰小鼠为研究模型,采用切伦科夫光学成像动态监测早衰小鼠棕色脂肪组织代谢活性的变化,以18F-FDG PET/CT成像为参照;通过检测棕色脂肪组织活性分子标志物解偶联蛋白酶1(uncoupling protein 1,UCP1)的转录和蛋白表达水平评估早衰小鼠棕色脂肪组织衰老情况。结果 4~12周龄时,早衰小鼠棕色脂肪组织SUVmax及切伦科夫光学显像光强度值未见明显变化(P>0.05),14周龄时早衰小鼠棕色脂肪组织PET/CT成像最大摄入值(SUVmax)、切伦科夫光强度值较12周龄时均显著下降(P<0.01)。分子水平上早衰小鼠UCP1的mRNA水平于12周龄开始下降(P<0.05),而蛋白表达水平在14周龄时显著下降(P<0.01),与显像结果一致。结论切伦科夫光学显像能够有效评估小鼠棕色脂肪组织代谢活性;早衰小鼠14周龄即出现棕色脂肪组织代谢活性的减退。
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.
