A 58-year-old man presented with the chief complaint of abdominal bloating and was incidentally found to have a liver tumor.As diagnostic imaging studies could not rule out malignancy,the patient underwent partial res...A 58-year-old man presented with the chief complaint of abdominal bloating and was incidentally found to have a liver tumor.As diagnostic imaging studies could not rule out malignancy,the patient underwent partial resection of segment 3 of the liver.The lesion pathologically showed eosinophilic proliferation,in addition to immunohistochemical positivity for human melanoma black 45 and Melan-A,thereby leading to the diagnosis of a hepatic perivascular epithelioid cell tumor(PEComa).A PEComa arising from the liver is relatively rare.Moreover,the name ‘PEComa' has not yet been widely recognized,and the same disease entity has been called epithelioid angiomyolipoma(EAML),further diminishing the recognition of PEComa.In addition,PEComa imaging findings mimic those of malignant liver tumors,and clinically,this tumor tends to enlarge.Therefore,a PEComa is difficult to diagnose.We conducted a systematic review of PEComa and EAML cases and discuss the results,including findings useful for differentiating perivascular epithelioid cell tumors from malignant liver tumors.展开更多
Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patien...Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patients with TS. The aim of this study is to summarize thecharateristic cutaneous features and common extracutaneous involvement of TS, which are helpful tothe early detection of visceral involvement. The analyzed clinical data from 78 patients with TSincluded those from detailed history, physical and dermatological examination, cranial computedtomography ( CT) and magnetic resonance imaging ( MRI) , abdominal ultrasonography, chestroentgenography, hand and foot X-ray and ophthalmologic examination. The skin, brain and kidney wereinvolved frequently in TS patients. Hypomelanotic macules were the most common and earliestcutaneous lesions. Their number was more than 3 in 81. 5% of'the patients. They were followed byfacial angiofibromas and Shangreen' s patch in a decreasing frequency. Forehead plaque, facialangiofibromas and Shagreen's patch appeared in patients at mean age of 2. 6, 6. 0 and 8. 1 yearsrespectively. Cranial CT showed a high positive rate in TS patients . Cutaneous features of TS arehelpful in the early diagnosis of the disease. Hypomelanotic macules are especially important forpatients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT isof great value in the diagnosis of TS. The involvement of visceral organs such as the brain andkidney should be examined in TS patients.展开更多
Malania oleifera(Olacaceae)is a valued tree species,mostly because its seeds have high precious fatty acid content(particularly nervonic acid).However,seedling mortality rates are often high and regeneration of this t...Malania oleifera(Olacaceae)is a valued tree species,mostly because its seeds have high precious fatty acid content(particularly nervonic acid).However,seedling mortality rates are often high and regeneration of this tree has been problematic,which greatly hinders its utilization at a large scale.Cultivation difficulties of some tree species in the family Olacaceae have been attributed to their root hemiparasitic habit.Prompted by field observations and the taxonomic proximity of M.oleifera to root hemiparasites in Olacaceae,we hypothesized that tuberous structures observed on the roots of M.oleifera are parasitic organs known as haustoria.To test this hypothesis,we collected root samples from M.oleifera plants of various ages and growth conditions,investigated the morphological and anatomical features of tuberous structures and their connections to neighboring roots.Our analyses confirmed that M.oleifera are root hemiparasites.To the best of our knowledge,this is the first empirical report on root hemiparasitism in M.oleifera.Because life strategies of root hemiparasitic plants differ greatly from autotrophic plants,the root hemiparasitic habit needs to be taken into account for successful seedling regeneration of M.oleifera.This study establishes the foundation for investigations into a long-neglected but essential aspect in research of these highly valued tree species.展开更多
AIM: To study the dynamic computed tomography (CT) features of hepatic angiomyolipoma (AML) in patients with or without tuberous sclerosis complex (TSC).METHODS: The clinical information, CT fi ndings and histopatholo...AIM: To study the dynamic computed tomography (CT) features of hepatic angiomyolipoma (AML) in patients with or without tuberous sclerosis complex (TSC).METHODS: The clinical information, CT fi ndings and histopathological results of hepatic AML were analyzed retrospectively in 10 patients.RESULTS: Hepatic AML was prone to occur in female patients (7/10), and most of the patients (8/10) had no specific symptoms. All tumors presented as well-def ined, unenveloped nodules in the liver. Six patients with sporadic hepatic AML had a solitary hepatic nodule with a definite fat component. Non-fat components of the hepatic lesions were enhanced earlier and persistently. Prominent central vessels were noted in the portal venous phase in three patients. In four patients with hepatic AML and TSC, most of the nodules were within the peripheral liver. Seven fat-deficient nodules were found with earlier contrast enhancement and rapid contrast material washout in two patients. Lymphangioleiomyomatosis was found in one patient.CONCLUSION: Imaging features of hepatic AML are characteristic. Correct diagnosis preoperatively can be made in combination with clinical features.展开更多
First reported in 1976,hepatic angiomyolipoma(HAML)is a rare mesenchymal liver tumor occurring mostly in middle-aged women.Diagnosis of the liver mass is often incidental on abdominal imaging due to the frequent absen...First reported in 1976,hepatic angiomyolipoma(HAML)is a rare mesenchymal liver tumor occurring mostly in middle-aged women.Diagnosis of the liver mass is often incidental on abdominal imaging due to the frequent absence of specific symptoms.Nearly 10%of HAMLs are associated with tuberous sclerosis complex.HAML contains variable proportions of blood vessels,smooth muscle cells and adipose tissue,which renders radiological diagnosis hazardous.Cells express positivity for HMB-45 and actin,thus these tumors are integrated into the group of perivascular epithelioid cell tumors.Typically,a HAML appears on magnetic resonance imaging(or computed tomography scan)as a hypervascular solid tumor with fatty areas and with washout,and can easily be misdiagnosed as other liver tumors,particularly hepatocellular carcinoma.The therapeutic strategy is not clearly defined,but surgical resection is indicated for symptomatic patients,for tumors showing an aggressive pattern(i.e.,changes in size on imaging or high proliferation activity and atypical epithelioid pattern on liver biopsy),for large(>5 cm)biopsy-proven HAML,and if doubts remain on imaging or histology.Conservative management may be justified in other conditions,since most cases follow a benign clinical course.In summary,the correct diagnosis of HAML is challenging on imaging and relies mainly on pathological findings.展开更多
BACKGROUND The perivascular epithelioid cell tumour(PEComa)family of tumours mainly includes renal and hepatic angiomyolipomas,pulmonary lymphangioleiomyomatosis and clear cell“sugar”tumour of the lung.Several uncom...BACKGROUND The perivascular epithelioid cell tumour(PEComa)family of tumours mainly includes renal and hepatic angiomyolipomas,pulmonary lymphangioleiomyomatosis and clear cell“sugar”tumour of the lung.Several uncommon tumours with similar morphological and immunophenotypical characteristics arising at a variety of sites(abdominal cavity,digestive tract,retroperitoneum,skin,soft tissue and bones)are also included in the PEComa family and are referred to as PEComas not otherwise specified.CASE SUMMARY We present a 37-year-old female patient who underwent resection of an 8.5 cm×8 cm×4 cm retroperitoneal tumour,which eventually was diagnosed as PEComa of uncertain biological behaviour.Three years after the operation,the patient remains without any evidence of recurrence.A search was performed in the Medline and EMBASE databases for articles published between 1996 and 2018,and we identified 31 articles related to retroperitoneal and perinephric PEComas.We focused on sex,age,maximum dimension,histological and immunohistochemical characteristics of the tumour,follow-up and long-term outcome.Thirty-four retroperitoneal(including the present one)and ten perinephric PEComas were identified,carrying a malignant potential rate of 44%and 60%,respectively.Nearly half of the potentially malignant PEComas presented with or developed metastases during the course of the disease.CONCLUSION Retroperitoneal PEComas are not as indolent as they are supposed to be.Radical surgical resection constitutes the treatment of choice for localized disease,while mammalian target of the rapamycin(mTOR)inhibitors constitute the most promising therapy for disseminated disease.The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.展开更多
Tuberous sclerosis complex（TSC） is an uncommon multiorgan disorder that may present many and different manifestations on imaging. Radiology plays an important role in diagnosis and management, and can substantially ...Tuberous sclerosis complex（TSC） is an uncommon multiorgan disorder that may present many and different manifestations on imaging. Radiology plays an important role in diagnosis and management, and can substantially improve the clinical outcome of TSC. Therefore, a comprehensive understanding of this disease is essential for the radiologist. The manifestations of TSC on computer tomography（CT） and magnetic resonance（MR） images were analyzed. Eleven patients with a clinical diagnosis of TSC were retrospectively reviewed. Central nervous system lesions included subependymal nodules（SENs）（11/11）, subependymal giant cell astrocytomas（SEGAs）（2/11）, cortical and subcortical tuber lesions（5/11）, and white matter lesions（4/11）. Of the 6 patients with abdominal scans, there were 6 cases of renal angiomyolipomas（AMLs）, and one case of hepatic AMLs. Of the 4 patients undergoing chest CT, lung lymhangioleiomyomatosis（LAM）（2/4）, and multiple small sclerotic bone lesions（2/4） were observed. Different modalities show different sensitivity to the lesion. Analysis of images should be integrated with patients＇ history in order to diagnose TSC.展开更多
BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient&...BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.展开更多
Tuberous sclerosis complex(TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clini...Tuberous sclerosis complex(TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children(7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions(80% of patients) and seizures(75%). Fourteen of the children presented with retinal hamartomas, and 2 of these underwent eye enucleation at other hospitals through misdiagnosis. On magnetic resonance imaging, 18 children exhibited subependymal nodules, and 16 ones showed cortical nodules. 5 cases of non-renal hamartomas, 5 cases of multiple renal cysts, and 5 cases of cardiac rhabdomyomas were observed.The genotyping of TSC1 and TSC2 in 14 children revealed 11 with mutations in TSC2, 2 with mutations in TSC1, and no mutations of either gene in one patient. Eight of these observed mutations are reported here in for the first time. The illness presentations of the TSC2-mutated patients were more severe than that of patients carrying TSC1 mutations.There were differences in the mutations of TSC genes in Chinese children from those reported in other countries. The described clinical characteristics and genotyping will help pediatric neurologists to understand, diagnosis, and treat TSC.展开更多
Background Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disorder with a birth incidence of I:6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ s...Background Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disorder with a birth incidence of I:6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ systems including the brain,kidneys,lungs,and skin.Importantly,TSCis also associated with signicant neurological manifestations including epilepsy TSC-associated neuropsychiatric disorders,intellectual disabilities,and autism spectrum disorder.Mutations in the TSCI or TSC2 genes are well-established causes of TSC,which lead to TSC1/TSC2 deficiency in organs and hyper-activation of the mammalian target of rapamycin signaling pathway.Animal models have been widely used to study the effect of TSCl/2 genes on the development and function of the brain.Despite considerable progress in understanding the molecular mechanisms underlying TSC in animal models,a human-specific model is urgently needed to investigate the effects of TSCl/2 mutations that are unique to human neurodevelopment.Data sources Literature reviews and research articles were published in PubMed-indexed journals.Results Human-induced pluripotent stem cells(iPSCs),which capture risk alleles that are identical to their donors and have the capacity to differentiate into virtually any cell type in the human body,pave the way for the empirical study of previously inaccessible biological systems such as the developing human brain.Conclusions In this review,we present an overview of the recent progress in modeling TSC with human iPSC models,the existing limitations,and potential directions for future research.展开更多
Background Renal angiomyolipoma(RAML)is the most common kidney lesion in patients with tuberous sclerosis complex(TSC),affecting about 80%of patients.It is a benign tumor that grows over time,usually bilaterally,and c...Background Renal angiomyolipoma(RAML)is the most common kidney lesion in patients with tuberous sclerosis complex(TSC),affecting about 80%of patients.It is a benign tumor that grows over time,usually bilaterally,and can easily lead to kidney complications such as acute hemorrhage.Herein,we investigated the efficacy and safety of sirolimus in children with TSC-associated RAML and explored the factors affecting tumor disappearance under sirolimus treatment through subgroup analysis.Methods A prospective cohort study was conducted.Sirolimus was initiated at 1 mg/(m^(2)×day),and dose adjustments were made by a 2-week titration period to attain a trough blood concentration of 5-10 ng/mL.The disappearance of RAML in chil-dren after sirolimus treatment was observed,and Cox regression was used to screen the factors affecting tumor disappearance.Results One hundred and twenty-six patients who met the criteria were analyzed.After 3 months,6 months,12 months,and 24 months of follow-up,tumors disappeared in 18(14.3%),30(23.8%),39(31.0%),and 42(33.3%)children,respec-tively.Tumors disappeared in 50(39.7%)children by the last visit of each individual,and 30(60%)of them occurred within 6 months.The multivariate Cox regression analysis showed that patients with a smaller maximum tumor diameter at baseline had a higher tumor disappearance rate.Thirty-six(29%)patients had stomatitis during the entire treatment period,and no serious adversereactionswereobserved.Conclusions Sirolimus could promote the disappearance of TSC-related RAML.The disappearance rate was correlated with the maximum diameter at baseline,and the smaller the tumor was,the higher the disappearance rate.It is well tolerated in the treatment of RAML associated with TSC.展开更多
The kidney is affected in about 80-85% of tuberous sclerosis complex （TSC） patients. Renal manifestations in TSC patients include an increased incidence of epithelial cysts and tumors, such as multiple renal angiomy...The kidney is affected in about 80-85% of tuberous sclerosis complex （TSC） patients. Renal manifestations in TSC patients include an increased incidence of epithelial cysts and tumors, such as multiple renal angiomyolipomas （AMLs）, renal cell carcinoma （RCC）, and oncocytoma. The coexistence of RCC and renal AML within same tumor masses, namely collision tumor, is very rare, and about six cases have been reported. Here, we present a case of a young male with TSC and multiple AMLs, containing RCC with eosinophilic morphology.展开更多
Background： A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex （TSC）. The aim of the present study was to compare the color fundus photography, infrared imaging ...Background： A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex （TSC）. The aim of the present study was to compare the color fundus photography, infrared imaging （IFG）, and optical coherence tomography （OCT） in the detection rate of retinal hamartoma in patients with TSC. Methods： This study included 11 patients （22 eyes） with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2 mutations were tested in eight patients. Results： The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ±1.42 D by autorefraction with cycloplegia. In 11 patients （22 eyes）, OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I （55.6%）. All the hamartomas that detected by color fundus photography or IFG can be detected by OCT. Conclusion： Among the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.展开更多
Tuberous sclerosis complex （TSC） is a relatively common autosomal dominant genetic disorder affecting l/14,000-1/6000 Western populations.The incidence of TSC in Chinese population is still unknown although case rep...Tuberous sclerosis complex （TSC） is a relatively common autosomal dominant genetic disorder affecting l/14,000-1/6000 Western populations.The incidence of TSC in Chinese population is still unknown although case reports of Chinese TSC patients were documented. The main clinical features of TSC include seizures,mental retardation,and the development ofhamartomas in multiple organs such as the skin,brain,lung,heart,and kidney.Indeed,the disease virtually manifests in every organ. Two causative genes for TSC,TSC 1 gene on chromosome 9q34 and TSC2 gene on chromosome16p13,have been identified in 1997 and 1993 respectively.Approximately,70% of cases of TSC are de novo mutations. Chinese TSC patients are more likely to have TSC2 missense and frame shift mutations.Here,we record one Chinese TSC family and it is novel frame shift mutation of TSC2.展开更多
Background and Aims:Nonalcoholic fatty liver disease(NAFLD)is a common chronic liver disease caused by overnutrition.Impaired autophagy is closely related to NAFLD progression.Recently,ubiquitin-specific peptidase-10(...Background and Aims:Nonalcoholic fatty liver disease(NAFLD)is a common chronic liver disease caused by overnutrition.Impaired autophagy is closely related to NAFLD progression.Recently,ubiquitin-specific peptidase-10(USP10)was reported to ameliorate hepatic steatosis,but the underlying mechanism is still unclear.In view of the potential effects of USP10 on autophagy,we investigated whether USP10 alleviated steatosis through autophagy.Methods:HepG2 cells were treated with palmitic acid(PA)to model NAFLD in vitro.Lentivirus was used to regulate USP10 level in cells.Autophagic regulators were used to autophagic progression in cells.Western blotting,real-time fluorescence quantitative polymerase chain reaction,lipid drop staining and immunofluorescent staining were performed to determine the effect of USP10 on lipid autophagy.Student’s t-test and Tukey’s post hoc test were used to compare the means among groups.Results:PA induced cellular steatosis with dependance on autophagy.USP10 overexpression alleviated PA-induced steatosis,restored autophagic activity,promoted autophagic flux,including synthesis and degradation of autophagosomes,and lipid-targeted autophagy.In the presence of autophagy inhibitors,the protective effectiveness of USP10 on steatosis decreased.Furthermore,the specific inhibitor to C-jun N-terminal protein kinase-1(JNK1),DB07268,abolished USP10-induced autophagy.However,during early stage inhibition of JNK1,compensatory expression of tuberous sclerosis complex-2(TSC2)maintained autophagy.The degree of TSC2-to-JNK1 compensation was positively associated with USP10 level.Functionally,JNK1 and TSC2 were involved in the lipid-lowering effect of USP10.Conclusions:USP10 alleviated hepatocellular steatosis in autophagy-dependent manner.JNK1/TSC2 signaling pathways were required for USP10-induced autophagy.展开更多
Tuberous sclerosis complex (TSC) is a dominantly inherited disorder which characterized by the growth of harmatomatous in multiple organs. Unlike the common development of renal angiomyolipoma, hepatic angiomyolipoma ...Tuberous sclerosis complex (TSC) is a dominantly inherited disorder which characterized by the growth of harmatomatous in multiple organs. Unlike the common development of renal angiomyolipoma, hepatic angiomyolipoma rarely occur in patients with TSC. We report here a patient with hepatic angiomyolipomas and concurrent hepatocellular carcinoma in TSC. This represents the first reported case in English literature. In this patient, multiple hepatic angiomyolipomas were diagnosed with recognition of their fat components and typical clinical settings. Hepatocellular carcinoma in the left liver lobe was definitely diagnosed by US guided biopsy. In such clinical settings, fat containing lesions in liver can be reasonably treated as angiomyolipomas, but non fat containing lesions must be differentiated from hepatocellular carcinoma, imaging guided biopsy can be adopted to confirm the diagnosis.展开更多
Chest computed tomography （CT） screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple gro...Chest computed tomography （CT） screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer （SMPLC） and/or metastatic cancer. She was finally diagnosed as tuberous sclerosis complex （TSC）, an autosomal-dominant disorder characterized by the fort-nation of hanaartomatous lesions in the skin, eyes, kidney, and central nervous system. Tuberous sclerosis complex 1 （TSC1） gene mutation （c.1030-1G〉A） was found in her and her family members. This is a very rare report in China.展开更多
文摘A 58-year-old man presented with the chief complaint of abdominal bloating and was incidentally found to have a liver tumor.As diagnostic imaging studies could not rule out malignancy,the patient underwent partial resection of segment 3 of the liver.The lesion pathologically showed eosinophilic proliferation,in addition to immunohistochemical positivity for human melanoma black 45 and Melan-A,thereby leading to the diagnosis of a hepatic perivascular epithelioid cell tumor(PEComa).A PEComa arising from the liver is relatively rare.Moreover,the name ‘PEComa' has not yet been widely recognized,and the same disease entity has been called epithelioid angiomyolipoma(EAML),further diminishing the recognition of PEComa.In addition,PEComa imaging findings mimic those of malignant liver tumors,and clinically,this tumor tends to enlarge.Therefore,a PEComa is difficult to diagnose.We conducted a systematic review of PEComa and EAML cases and discuss the results,including findings useful for differentiating perivascular epithelioid cell tumors from malignant liver tumors.
文摘Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patients with TS. The aim of this study is to summarize thecharateristic cutaneous features and common extracutaneous involvement of TS, which are helpful tothe early detection of visceral involvement. The analyzed clinical data from 78 patients with TSincluded those from detailed history, physical and dermatological examination, cranial computedtomography ( CT) and magnetic resonance imaging ( MRI) , abdominal ultrasonography, chestroentgenography, hand and foot X-ray and ophthalmologic examination. The skin, brain and kidney wereinvolved frequently in TS patients. Hypomelanotic macules were the most common and earliestcutaneous lesions. Their number was more than 3 in 81. 5% of'the patients. They were followed byfacial angiofibromas and Shangreen' s patch in a decreasing frequency. Forehead plaque, facialangiofibromas and Shagreen's patch appeared in patients at mean age of 2. 6, 6. 0 and 8. 1 yearsrespectively. Cranial CT showed a high positive rate in TS patients . Cutaneous features of TS arehelpful in the early diagnosis of the disease. Hypomelanotic macules are especially important forpatients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT isof great value in the diagnosis of TS. The involvement of visceral organs such as the brain andkidney should be examined in TS patients.
基金financially supported by funding for Airong Li from Yunnan Ten Thousand Talents Plan Young and Elite Talents Project (YNWR-QNBJ-2018-092)Youth Innovation Promotion Association of Chinese Academy of Sciences (2011276)+2 种基金Young Academic and Technical Leader Raising Foundation of Yunnan Province (2014HB047)funding for Yunju Li from Young Academic and Technical Leader Raising Foundation of Yunnan Province (2019HB060)Yunnan Science and Technology Innovation Team Program (Grant No. 2019HC015)
文摘Malania oleifera(Olacaceae)is a valued tree species,mostly because its seeds have high precious fatty acid content(particularly nervonic acid).However,seedling mortality rates are often high and regeneration of this tree has been problematic,which greatly hinders its utilization at a large scale.Cultivation difficulties of some tree species in the family Olacaceae have been attributed to their root hemiparasitic habit.Prompted by field observations and the taxonomic proximity of M.oleifera to root hemiparasites in Olacaceae,we hypothesized that tuberous structures observed on the roots of M.oleifera are parasitic organs known as haustoria.To test this hypothesis,we collected root samples from M.oleifera plants of various ages and growth conditions,investigated the morphological and anatomical features of tuberous structures and their connections to neighboring roots.Our analyses confirmed that M.oleifera are root hemiparasites.To the best of our knowledge,this is the first empirical report on root hemiparasitism in M.oleifera.Because life strategies of root hemiparasitic plants differ greatly from autotrophic plants,the root hemiparasitic habit needs to be taken into account for successful seedling regeneration of M.oleifera.This study establishes the foundation for investigations into a long-neglected but essential aspect in research of these highly valued tree species.
文摘AIM: To study the dynamic computed tomography (CT) features of hepatic angiomyolipoma (AML) in patients with or without tuberous sclerosis complex (TSC).METHODS: The clinical information, CT fi ndings and histopathological results of hepatic AML were analyzed retrospectively in 10 patients.RESULTS: Hepatic AML was prone to occur in female patients (7/10), and most of the patients (8/10) had no specific symptoms. All tumors presented as well-def ined, unenveloped nodules in the liver. Six patients with sporadic hepatic AML had a solitary hepatic nodule with a definite fat component. Non-fat components of the hepatic lesions were enhanced earlier and persistently. Prominent central vessels were noted in the portal venous phase in three patients. In four patients with hepatic AML and TSC, most of the nodules were within the peripheral liver. Seven fat-deficient nodules were found with earlier contrast enhancement and rapid contrast material washout in two patients. Lymphangioleiomyomatosis was found in one patient.CONCLUSION: Imaging features of hepatic AML are characteristic. Correct diagnosis preoperatively can be made in combination with clinical features.
文摘First reported in 1976,hepatic angiomyolipoma(HAML)is a rare mesenchymal liver tumor occurring mostly in middle-aged women.Diagnosis of the liver mass is often incidental on abdominal imaging due to the frequent absence of specific symptoms.Nearly 10%of HAMLs are associated with tuberous sclerosis complex.HAML contains variable proportions of blood vessels,smooth muscle cells and adipose tissue,which renders radiological diagnosis hazardous.Cells express positivity for HMB-45 and actin,thus these tumors are integrated into the group of perivascular epithelioid cell tumors.Typically,a HAML appears on magnetic resonance imaging(or computed tomography scan)as a hypervascular solid tumor with fatty areas and with washout,and can easily be misdiagnosed as other liver tumors,particularly hepatocellular carcinoma.The therapeutic strategy is not clearly defined,but surgical resection is indicated for symptomatic patients,for tumors showing an aggressive pattern(i.e.,changes in size on imaging or high proliferation activity and atypical epithelioid pattern on liver biopsy),for large(>5 cm)biopsy-proven HAML,and if doubts remain on imaging or histology.Conservative management may be justified in other conditions,since most cases follow a benign clinical course.In summary,the correct diagnosis of HAML is challenging on imaging and relies mainly on pathological findings.
文摘BACKGROUND The perivascular epithelioid cell tumour(PEComa)family of tumours mainly includes renal and hepatic angiomyolipomas,pulmonary lymphangioleiomyomatosis and clear cell“sugar”tumour of the lung.Several uncommon tumours with similar morphological and immunophenotypical characteristics arising at a variety of sites(abdominal cavity,digestive tract,retroperitoneum,skin,soft tissue and bones)are also included in the PEComa family and are referred to as PEComas not otherwise specified.CASE SUMMARY We present a 37-year-old female patient who underwent resection of an 8.5 cm×8 cm×4 cm retroperitoneal tumour,which eventually was diagnosed as PEComa of uncertain biological behaviour.Three years after the operation,the patient remains without any evidence of recurrence.A search was performed in the Medline and EMBASE databases for articles published between 1996 and 2018,and we identified 31 articles related to retroperitoneal and perinephric PEComas.We focused on sex,age,maximum dimension,histological and immunohistochemical characteristics of the tumour,follow-up and long-term outcome.Thirty-four retroperitoneal(including the present one)and ten perinephric PEComas were identified,carrying a malignant potential rate of 44%and 60%,respectively.Nearly half of the potentially malignant PEComas presented with or developed metastases during the course of the disease.CONCLUSION Retroperitoneal PEComas are not as indolent as they are supposed to be.Radical surgical resection constitutes the treatment of choice for localized disease,while mammalian target of the rapamycin(mTOR)inhibitors constitute the most promising therapy for disseminated disease.The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.
文摘Tuberous sclerosis complex（TSC） is an uncommon multiorgan disorder that may present many and different manifestations on imaging. Radiology plays an important role in diagnosis and management, and can substantially improve the clinical outcome of TSC. Therefore, a comprehensive understanding of this disease is essential for the radiologist. The manifestations of TSC on computer tomography（CT） and magnetic resonance（MR） images were analyzed. Eleven patients with a clinical diagnosis of TSC were retrospectively reviewed. Central nervous system lesions included subependymal nodules（SENs）（11/11）, subependymal giant cell astrocytomas（SEGAs）（2/11）, cortical and subcortical tuber lesions（5/11）, and white matter lesions（4/11）. Of the 6 patients with abdominal scans, there were 6 cases of renal angiomyolipomas（AMLs）, and one case of hepatic AMLs. Of the 4 patients undergoing chest CT, lung lymhangioleiomyomatosis（LAM）（2/4）, and multiple small sclerotic bone lesions（2/4） were observed. Different modalities show different sensitivity to the lesion. Analysis of images should be integrated with patients＇ history in order to diagnose TSC.
基金Supported by National Natural Science Foundation of China,No.61876216.
文摘BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.
基金supported by the Capital Health Research and Development of Special (2014-1-4091)
文摘Tuberous sclerosis complex(TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children(7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions(80% of patients) and seizures(75%). Fourteen of the children presented with retinal hamartomas, and 2 of these underwent eye enucleation at other hospitals through misdiagnosis. On magnetic resonance imaging, 18 children exhibited subependymal nodules, and 16 ones showed cortical nodules. 5 cases of non-renal hamartomas, 5 cases of multiple renal cysts, and 5 cases of cardiac rhabdomyomas were observed.The genotyping of TSC1 and TSC2 in 14 children revealed 11 with mutations in TSC2, 2 with mutations in TSC1, and no mutations of either gene in one patient. Eight of these observed mutations are reported here in for the first time. The illness presentations of the TSC2-mutated patients were more severe than that of patients carrying TSC1 mutations.There were differences in the mutations of TSC genes in Chinese children from those reported in other countries. The described clinical characteristics and genotyping will help pediatric neurologists to understand, diagnosis, and treat TSC.
基金supported by the following funding sources:NIH grants(Nos.R01AG065611,R01MH121102,R21MH123711)Department of Defense grant(No.W81XWH1910353 to ZW).
文摘Background Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disorder with a birth incidence of I:6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ systems including the brain,kidneys,lungs,and skin.Importantly,TSCis also associated with signicant neurological manifestations including epilepsy TSC-associated neuropsychiatric disorders,intellectual disabilities,and autism spectrum disorder.Mutations in the TSCI or TSC2 genes are well-established causes of TSC,which lead to TSC1/TSC2 deficiency in organs and hyper-activation of the mammalian target of rapamycin signaling pathway.Animal models have been widely used to study the effect of TSCl/2 genes on the development and function of the brain.Despite considerable progress in understanding the molecular mechanisms underlying TSC in animal models,a human-specific model is urgently needed to investigate the effects of TSCl/2 mutations that are unique to human neurodevelopment.Data sources Literature reviews and research articles were published in PubMed-indexed journals.Results Human-induced pluripotent stem cells(iPSCs),which capture risk alleles that are identical to their donors and have the capacity to differentiate into virtually any cell type in the human body,pave the way for the empirical study of previously inaccessible biological systems such as the developing human brain.Conclusions In this review,we present an overview of the recent progress in modeling TSC with human iPSC models,the existing limitations,and potential directions for future research.
基金funded by the Capital's Funds for Health Improvement and Research(No.2022-1-5081)National Key Research and Development Program of China(No.2016YFC1000707).
文摘Background Renal angiomyolipoma(RAML)is the most common kidney lesion in patients with tuberous sclerosis complex(TSC),affecting about 80%of patients.It is a benign tumor that grows over time,usually bilaterally,and can easily lead to kidney complications such as acute hemorrhage.Herein,we investigated the efficacy and safety of sirolimus in children with TSC-associated RAML and explored the factors affecting tumor disappearance under sirolimus treatment through subgroup analysis.Methods A prospective cohort study was conducted.Sirolimus was initiated at 1 mg/(m^(2)×day),and dose adjustments were made by a 2-week titration period to attain a trough blood concentration of 5-10 ng/mL.The disappearance of RAML in chil-dren after sirolimus treatment was observed,and Cox regression was used to screen the factors affecting tumor disappearance.Results One hundred and twenty-six patients who met the criteria were analyzed.After 3 months,6 months,12 months,and 24 months of follow-up,tumors disappeared in 18(14.3%),30(23.8%),39(31.0%),and 42(33.3%)children,respec-tively.Tumors disappeared in 50(39.7%)children by the last visit of each individual,and 30(60%)of them occurred within 6 months.The multivariate Cox regression analysis showed that patients with a smaller maximum tumor diameter at baseline had a higher tumor disappearance rate.Thirty-six(29%)patients had stomatitis during the entire treatment period,and no serious adversereactionswereobserved.Conclusions Sirolimus could promote the disappearance of TSC-related RAML.The disappearance rate was correlated with the maximum diameter at baseline,and the smaller the tumor was,the higher the disappearance rate.It is well tolerated in the treatment of RAML associated with TSC.
文摘The kidney is affected in about 80-85% of tuberous sclerosis complex （TSC） patients. Renal manifestations in TSC patients include an increased incidence of epithelial cysts and tumors, such as multiple renal angiomyolipomas （AMLs）, renal cell carcinoma （RCC）, and oncocytoma. The coexistence of RCC and renal AML within same tumor masses, namely collision tumor, is very rare, and about six cases have been reported. Here, we present a case of a young male with TSC and multiple AMLs, containing RCC with eosinophilic morphology.
文摘Background： A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex （TSC）. The aim of the present study was to compare the color fundus photography, infrared imaging （IFG）, and optical coherence tomography （OCT） in the detection rate of retinal hamartoma in patients with TSC. Methods： This study included 11 patients （22 eyes） with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2 mutations were tested in eight patients. Results： The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ±1.42 D by autorefraction with cycloplegia. In 11 patients （22 eyes）, OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I （55.6%）. All the hamartomas that detected by color fundus photography or IFG can be detected by OCT. Conclusion： Among the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.
文摘Tuberous sclerosis complex （TSC） is a relatively common autosomal dominant genetic disorder affecting l/14,000-1/6000 Western populations.The incidence of TSC in Chinese population is still unknown although case reports of Chinese TSC patients were documented. The main clinical features of TSC include seizures,mental retardation,and the development ofhamartomas in multiple organs such as the skin,brain,lung,heart,and kidney.Indeed,the disease virtually manifests in every organ. Two causative genes for TSC,TSC 1 gene on chromosome 9q34 and TSC2 gene on chromosome16p13,have been identified in 1997 and 1993 respectively.Approximately,70% of cases of TSC are de novo mutations. Chinese TSC patients are more likely to have TSC2 missense and frame shift mutations.Here,we record one Chinese TSC family and it is novel frame shift mutation of TSC2.
文摘Background and Aims:Nonalcoholic fatty liver disease(NAFLD)is a common chronic liver disease caused by overnutrition.Impaired autophagy is closely related to NAFLD progression.Recently,ubiquitin-specific peptidase-10(USP10)was reported to ameliorate hepatic steatosis,but the underlying mechanism is still unclear.In view of the potential effects of USP10 on autophagy,we investigated whether USP10 alleviated steatosis through autophagy.Methods:HepG2 cells were treated with palmitic acid(PA)to model NAFLD in vitro.Lentivirus was used to regulate USP10 level in cells.Autophagic regulators were used to autophagic progression in cells.Western blotting,real-time fluorescence quantitative polymerase chain reaction,lipid drop staining and immunofluorescent staining were performed to determine the effect of USP10 on lipid autophagy.Student’s t-test and Tukey’s post hoc test were used to compare the means among groups.Results:PA induced cellular steatosis with dependance on autophagy.USP10 overexpression alleviated PA-induced steatosis,restored autophagic activity,promoted autophagic flux,including synthesis and degradation of autophagosomes,and lipid-targeted autophagy.In the presence of autophagy inhibitors,the protective effectiveness of USP10 on steatosis decreased.Furthermore,the specific inhibitor to C-jun N-terminal protein kinase-1(JNK1),DB07268,abolished USP10-induced autophagy.However,during early stage inhibition of JNK1,compensatory expression of tuberous sclerosis complex-2(TSC2)maintained autophagy.The degree of TSC2-to-JNK1 compensation was positively associated with USP10 level.Functionally,JNK1 and TSC2 were involved in the lipid-lowering effect of USP10.Conclusions:USP10 alleviated hepatocellular steatosis in autophagy-dependent manner.JNK1/TSC2 signaling pathways were required for USP10-induced autophagy.
文摘Tuberous sclerosis complex (TSC) is a dominantly inherited disorder which characterized by the growth of harmatomatous in multiple organs. Unlike the common development of renal angiomyolipoma, hepatic angiomyolipoma rarely occur in patients with TSC. We report here a patient with hepatic angiomyolipomas and concurrent hepatocellular carcinoma in TSC. This represents the first reported case in English literature. In this patient, multiple hepatic angiomyolipomas were diagnosed with recognition of their fat components and typical clinical settings. Hepatocellular carcinoma in the left liver lobe was definitely diagnosed by US guided biopsy. In such clinical settings, fat containing lesions in liver can be reasonably treated as angiomyolipomas, but non fat containing lesions must be differentiated from hepatocellular carcinoma, imaging guided biopsy can be adopted to confirm the diagnosis.
文摘Chest computed tomography （CT） screening is becoming more popular in China. Therefore, more and more rare diseases and early stages of lung diseases were found. Here, we reported a case who presented as multiple ground glass nodules incidentally found in chest CT scan who had been suspected as synchronous multiple primary lung cancer （SMPLC） and/or metastatic cancer. She was finally diagnosed as tuberous sclerosis complex （TSC）, an autosomal-dominant disorder characterized by the fort-nation of hanaartomatous lesions in the skin, eyes, kidney, and central nervous system. Tuberous sclerosis complex 1 （TSC1） gene mutation （c.1030-1G〉A） was found in her and her family members. This is a very rare report in China.
