Huntington's disease(HD) is a progressive and fatal neurodegenerative disorder caused by an expanded tri-nucleotide CAG sequence in huntingtin gene(HTT) on chromosome 4. HD manifests with chorea, cognitive and psy...Huntington's disease(HD) is a progressive and fatal neurodegenerative disorder caused by an expanded tri-nucleotide CAG sequence in huntingtin gene(HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underly-ing the development of overt clinical symptoms and the transitional period between premanifestation and mani-festation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging(MRI) and positron emission tomog-raphy(PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the dis-ease and have also proved to be powerful in assessingdisease progression. However, no single technique hasbeen validated as an optimal biomarker. An integrativemultimodal imaging approach, which combines differ-ent MRI and PET techniques, could be recommendedfor monitoring potential neuroprotective and preventivetherapies in HD. In this article we review the currentneuroimaging literature in HD.展开更多
Current understanding of autoimmune pancreatitis(AIP) recognizes a histopathological subtype of the disease to fall within the spectrum of IgG4-related disease.Along with clinical,laboratory,and histopathological data...Current understanding of autoimmune pancreatitis(AIP) recognizes a histopathological subtype of the disease to fall within the spectrum of IgG4-related disease.Along with clinical,laboratory,and histopathological data,imaging plays an important role in the diagnosis and management of AIP,and more broadly,within the spectrum of IgG4-related disease.In addition to the defined role of imaging in consensus diagnostic protocols,an array of imaging modalities can provide complementary data to address specific clinical concerns.These include contrast-enhanced computed tomography(CT) and magnetic resonance(MR) imaging for pancreatic parenchymal lesion localization and characterization,endoscopic retrograde and magnetic resonance cholangiopancreatography(ERCP and MRCP) to assess for duct involvement,and more recently,positron emission tomography(PET) imaging to assess for extra-pancreatic sites of involvement.While the imaging appearance of AIP varies widely,certain imaging features are more likely to represent AIP than alternate diagnoses,such as pancreatic cancer.While nonspecific,imaging findings which favor a diagnosis of AIP rather than pancreatic cancer include:delayed enhancement of affected pancreas,mild dilatation of the main pancreatic duct over a long segment,the "capsule" and "penetrating duct" signs,and responsiveness to corticosteroid therapy.Systemic,extra-pancreatic sites of involvement are also often seen in AIP and IgG4-related disease,and typically respond to corticosteroid therapy.Imaging by CT,MR,and PET also play a role in the diagnosis and monitoring after treatment of involved sites.展开更多
BACKGROUND Nuclear protein in testis(NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma(NMC), characterized by an acquired rearrangement of the gene encoding...BACKGROUND Nuclear protein in testis(NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma(NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome.CASE SUMMARY A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging(MRI) and positron emission tomography/computed tomography(PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy(SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo.CONCLUSION For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.展开更多
Psychiatric disorders have always attracted a lot of attention from researchers due to the difficulties in their diagnoses and treatments.Molecular imaging,as an emerging technology,has played an important role in the...Psychiatric disorders have always attracted a lot of attention from researchers due to the difficulties in their diagnoses and treatments.Molecular imaging,as an emerging technology,has played an important role in the researchers of various diseases.In recent years,molecular imaging techniques including magnetic resonance spectroscopy,nuclear medicine imaging,and fluorescence imaging have been widely used in the study of psychiatric disorders.This review will briefly summarize the progression of molecular imaging in psychiatric disorders.展开更多
文摘Huntington's disease(HD) is a progressive and fatal neurodegenerative disorder caused by an expanded tri-nucleotide CAG sequence in huntingtin gene(HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underly-ing the development of overt clinical symptoms and the transitional period between premanifestation and mani-festation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging(MRI) and positron emission tomog-raphy(PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the dis-ease and have also proved to be powerful in assessingdisease progression. However, no single technique hasbeen validated as an optimal biomarker. An integrativemultimodal imaging approach, which combines differ-ent MRI and PET techniques, could be recommendedfor monitoring potential neuroprotective and preventivetherapies in HD. In this article we review the currentneuroimaging literature in HD.
文摘Current understanding of autoimmune pancreatitis(AIP) recognizes a histopathological subtype of the disease to fall within the spectrum of IgG4-related disease.Along with clinical,laboratory,and histopathological data,imaging plays an important role in the diagnosis and management of AIP,and more broadly,within the spectrum of IgG4-related disease.In addition to the defined role of imaging in consensus diagnostic protocols,an array of imaging modalities can provide complementary data to address specific clinical concerns.These include contrast-enhanced computed tomography(CT) and magnetic resonance(MR) imaging for pancreatic parenchymal lesion localization and characterization,endoscopic retrograde and magnetic resonance cholangiopancreatography(ERCP and MRCP) to assess for duct involvement,and more recently,positron emission tomography(PET) imaging to assess for extra-pancreatic sites of involvement.While the imaging appearance of AIP varies widely,certain imaging features are more likely to represent AIP than alternate diagnoses,such as pancreatic cancer.While nonspecific,imaging findings which favor a diagnosis of AIP rather than pancreatic cancer include:delayed enhancement of affected pancreas,mild dilatation of the main pancreatic duct over a long segment,the "capsule" and "penetrating duct" signs,and responsiveness to corticosteroid therapy.Systemic,extra-pancreatic sites of involvement are also often seen in AIP and IgG4-related disease,and typically respond to corticosteroid therapy.Imaging by CT,MR,and PET also play a role in the diagnosis and monitoring after treatment of involved sites.
基金Supported by The Beijing Science Foundation for Distinguished Young Scholars,No.JQ21025.
文摘BACKGROUND Nuclear protein in testis(NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma(NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome.CASE SUMMARY A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging(MRI) and positron emission tomography/computed tomography(PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy(SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo.CONCLUSION For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.
基金supported by the Sichuan Foundation for Distinguished Young Scholars (Grant 2022JDJQ0049)the Scientific and Tec hnological Achievements Transformation Fund of West China Hospital,Sichuan University (Grant CGZH21002)the Innovative Research Project of Sichuan University (Grant 2022SCUH00132).
文摘Psychiatric disorders have always attracted a lot of attention from researchers due to the difficulties in their diagnoses and treatments.Molecular imaging,as an emerging technology,has played an important role in the researchers of various diseases.In recent years,molecular imaging techniques including magnetic resonance spectroscopy,nuclear medicine imaging,and fluorescence imaging have been widely used in the study of psychiatric disorders.This review will briefly summarize the progression of molecular imaging in psychiatric disorders.
