BACKGROUND Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations.In humans,prion diseases result from mutations in the prion protein gene(PRNP).Only a...BACKGROUND Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations.In humans,prion diseases result from mutations in the prion protein gene(PRNP).Only a limited number of cases involving a specific PRNP mutation at codon 196(E196A)have been reported.The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease(CJD)caused by E196A mutation has not been documented in the existing literature.CASE SUMMARY A 61-year-old Chinese man initially presented with Korsakoff syndrome,followed by rapid-onset dementia,visual hallucinations,akinetic mutism,myoclonus,and hyperthermia.The patient had no significant personal or familial medical history.Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex,while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism.Routine biochemical and microorganism testing of the cerebrospinal fluid(CSF)yielded normal results.Tests for thyroid function,human immunodeficiency virus,syphilis,vitamin B1 and B12 levels,and autoimmune rheumatic disorders were normal.Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results.A test for 14-3-3 protein in the CSF yielded negative results.Whole-genome sequencing revealed a diseasecausing mutation in PRNP.The patient succumbed to the illness 11 months after the initial symptom onset.CONCLUSION Korsakoff syndrome,typically associated with alcohol intoxication,also manifests in CJD patients.Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.展开更多
p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of...p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.展开更多
A primary study on Processing in X - ray inspection of spot weld for aluminum alloy spot welding,in- cluding for background simulation,acquisition of ideal binary image, and extraction and identifi- cation of defec...A primary study on Processing in X - ray inspection of spot weld for aluminum alloy spot welding,in- cluding for background simulation,acquisition of ideal binary image, and extraction and identifi- cation of defect features was presented.展开更多
Facing economic crisis in the world 2009, international market demands suffered a serious recession, also China's foreign trade has encountered unprecedented difficulties. In front of this, Chinese Government take...Facing economic crisis in the world 2009, international market demands suffered a serious recession, also China's foreign trade has encountered unprecedented difficulties. In front of this, Chinese Government takes series of adjustment timely to get over this rough time. So how is China's foreign trade in 2009, and where it will go in 2010, let's have a look at this…展开更多
BACKGROUND Despite an expanding number of studies on intraductal papillary neoplasm of the bile duct(IPNB),distant metastasis remains unexplained especially in cases of carcinoma in situ.In the present study,we report...BACKGROUND Despite an expanding number of studies on intraductal papillary neoplasm of the bile duct(IPNB),distant metastasis remains unexplained especially in cases of carcinoma in situ.In the present study,we report a rare and interesting case of IPNB without invasive components that later metastasized to lungs and brain.CASE SUMMARY A 69-year-old male was referred to our hospital due to suspected cholangiocarcinoma.Laboratory tests on admission reported a mild elevation of alkaline phosphatase,γ-glutamyl transpeptidase,and total bilirubin in serum.Endoscopic retrograde cholangiography revealed a filling defect in the common bile duct(CBD)extending to the left hepatic duct.Peroral cholangioscopy delineated a tumor in the CBD that had a papillary pattern.Multidetector computed tomography and magnetic resonance cholangiopancreatography detected partial blockage ot interlude in the CBD leading to cholestasis without evidence of metastasis.Therefore,a diagnosis of IPNB cT1N0M0 was established.Left hepatectomy with bile duct reconstruction was performed.Pathological examination confirmed an intraepithelial neoplasia pattern without an invasive component and an R0 resection achievement.The patient was monitored carefully by regular examinations.However,at 32 mo after the operation,a 26 mm tumor in the lungs and a 12 mm lesion in the brain were detected following a suspicious elevated CA 19-9 level.Video-assisted thoracoscopic surgery of left upper lobectomy and stereotactic radiotherapy are indicated.In addition to histopathological results,a genomic profiling analysis using whole exome sequencing subsequently confirmed lung metastasis originating from bile duct cancer.CONCLUSION This case highlights the important role of genomic profiling analysis using whole exome sequencing in identifying the origin of metastasis in patients with IPNB.展开更多
BACKGROUND Simple hepatic cysts are relatively common in adults, and mostly appear asasymptomatic incidental radiologic findings. Occasionally, a large cyst will causesymptoms. Elevations in the serum biomarkers prote...BACKGROUND Simple hepatic cysts are relatively common in adults, and mostly appear asasymptomatic incidental radiologic findings. Occasionally, a large cyst will causesymptoms. Elevations in the serum biomarkers protein induced by vitamin Kabsence (PIVKA)-II, cancer antigen (CA) 12-5, and CA19-9 are often associatedwith malignant tumors in the liver or bile ducts. This is the first report to describea case of hepatic cyst with elevated levels of PIVKA-II and CA12-5.CASE SUMMARY An 84-year-old Chinese woman was admitted with gradual abdominal distension.Her symptoms started 1 year ago, and she had poor appetite and a weight loss of5 kg within the past 2 wk. She denied any symptoms associated with abdominalpain, fever and chills, nausea and vomiting, etc. The abdomen was enlarged, morein the right upper quadrant, without tenderness. Laboratory examination showedsignificantly increased serum levels of PIVKA-II, CA12-5, and CA19-9. Acomputed tomography scan revealed multiple round cysts in the liver with clearboundaries. The largest cyst was 20.1 cm × 12.2 cm × 19.6 cm in size, located in theright lobe of the liver with mild dilatation of the intrahepatic bile duct, but therewas no contrast enhancement. Percutaneous drainage on the largest hepatic cystand polycinnamol sclerosing agent injection into the cyst cavity were performed.After treatment, the patient’s symptoms relieved and the elevated serum tumormakers reduced to the normal levels dramatically.CONCLUSION The present report identifies an unusual case of a giant hepatic cyst with markedelevation of serum tumor marker levels of PIVKA-II, CA12-5, and CA19-9. Aftertreatment, these three serum markers dramatically decreased to normal levels.The mechanisms for the elevation of these tumor markers may be as follows: (1) Agiant hepatic cyst compresses the liver, causing injury to the hepatocytes, whichmay lead to secretion of a large amount of PIVKA-II;and (2) Some tumorassociatedantigens, such as carcinoembryonic antigen, CA19-9, CA12-5, andCA15-3, are expressed on inflammatory cells.展开更多
BACKGROUND Only a few cases of giant pseudomeningoceles have been reported in the literature.Herein,we report a giant pseudomeningocele of the cervical spine that was found after cervical laminectomy for an epidural h...BACKGROUND Only a few cases of giant pseudomeningoceles have been reported in the literature.Herein,we report a giant pseudomeningocele of the cervical spine that was found after cervical laminectomy for an epidural hematoma following epidural blockade.CASE SUMMARY A 47-year-old man presented with recurrent neck pain and posterior neck swelling after spinal surgery.Magnetic resonance imaging of the cervical spine revealed fluid collection(5.6 cm×6.6 cm×11.2 cm)at the C3-6 level;this proved to be a pseudomeningocele.Symptoms related to the pseudomeningocele resolved following dural repair and fat graft transplantation.CONCLUSION Although rare,pseudomeningocele is a possibility in patients with recurrent back pain,radicular pain,or a persistent headache following spinal surgery.Continuous attention should be paid throughout the spinal procedure,whether conservative or non-conservative.展开更多
We present a new strategy to estimate the geometry of a rupture on a finite fault for rapid reporting of seismic intensity. We use envelope attenuation relationships which were presented by Huo et al. （Acta Seismol S...We present a new strategy to estimate the geometry of a rupture on a finite fault for rapid reporting of seismic intensity. We use envelope attenuation relationships which were presented by Huo et al. （Acta Seismol Sin 16：519-525, 1994）. An important base of this work is the fault finiteness theory. We propose a new model to simulate high-frequency motions from earthquakes with large rupture dimension. The envelope of high-frequency ground motion from a large earthquake can be expressed as a rootmean-squared combination of envelope functions from smaller earthquakes. We use simulated envelopes of ground acceleration to estimate the direction and alongstrike length of a rupture. Using the Wenchuan and Jiji （Chi-Chi） earthquake dataset, we parameterize the fault geometry with an epicenter, a fault strike, and along-strike rupture lengths. So this methodology seems quite appropriate for the rapid reporting systems of seismic intensity.展开更多
文摘BACKGROUND Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations.In humans,prion diseases result from mutations in the prion protein gene(PRNP).Only a limited number of cases involving a specific PRNP mutation at codon 196(E196A)have been reported.The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease(CJD)caused by E196A mutation has not been documented in the existing literature.CASE SUMMARY A 61-year-old Chinese man initially presented with Korsakoff syndrome,followed by rapid-onset dementia,visual hallucinations,akinetic mutism,myoclonus,and hyperthermia.The patient had no significant personal or familial medical history.Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex,while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism.Routine biochemical and microorganism testing of the cerebrospinal fluid(CSF)yielded normal results.Tests for thyroid function,human immunodeficiency virus,syphilis,vitamin B1 and B12 levels,and autoimmune rheumatic disorders were normal.Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results.A test for 14-3-3 protein in the CSF yielded negative results.Whole-genome sequencing revealed a diseasecausing mutation in PRNP.The patient succumbed to the illness 11 months after the initial symptom onset.CONCLUSION Korsakoff syndrome,typically associated with alcohol intoxication,also manifests in CJD patients.Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.
基金Anhui Province Central Guided Local Science and Technology Development Funding Project,No.2017070802D147Anhui Province Key Clinical Specialist Construction Fund.
文摘p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.
文摘A primary study on Processing in X - ray inspection of spot weld for aluminum alloy spot welding,in- cluding for background simulation,acquisition of ideal binary image, and extraction and identifi- cation of defect features was presented.
文摘Facing economic crisis in the world 2009, international market demands suffered a serious recession, also China's foreign trade has encountered unprecedented difficulties. In front of this, Chinese Government takes series of adjustment timely to get over this rough time. So how is China's foreign trade in 2009, and where it will go in 2010, let's have a look at this…
文摘BACKGROUND Despite an expanding number of studies on intraductal papillary neoplasm of the bile duct(IPNB),distant metastasis remains unexplained especially in cases of carcinoma in situ.In the present study,we report a rare and interesting case of IPNB without invasive components that later metastasized to lungs and brain.CASE SUMMARY A 69-year-old male was referred to our hospital due to suspected cholangiocarcinoma.Laboratory tests on admission reported a mild elevation of alkaline phosphatase,γ-glutamyl transpeptidase,and total bilirubin in serum.Endoscopic retrograde cholangiography revealed a filling defect in the common bile duct(CBD)extending to the left hepatic duct.Peroral cholangioscopy delineated a tumor in the CBD that had a papillary pattern.Multidetector computed tomography and magnetic resonance cholangiopancreatography detected partial blockage ot interlude in the CBD leading to cholestasis without evidence of metastasis.Therefore,a diagnosis of IPNB cT1N0M0 was established.Left hepatectomy with bile duct reconstruction was performed.Pathological examination confirmed an intraepithelial neoplasia pattern without an invasive component and an R0 resection achievement.The patient was monitored carefully by regular examinations.However,at 32 mo after the operation,a 26 mm tumor in the lungs and a 12 mm lesion in the brain were detected following a suspicious elevated CA 19-9 level.Video-assisted thoracoscopic surgery of left upper lobectomy and stereotactic radiotherapy are indicated.In addition to histopathological results,a genomic profiling analysis using whole exome sequencing subsequently confirmed lung metastasis originating from bile duct cancer.CONCLUSION This case highlights the important role of genomic profiling analysis using whole exome sequencing in identifying the origin of metastasis in patients with IPNB.
文摘BACKGROUND Simple hepatic cysts are relatively common in adults, and mostly appear asasymptomatic incidental radiologic findings. Occasionally, a large cyst will causesymptoms. Elevations in the serum biomarkers protein induced by vitamin Kabsence (PIVKA)-II, cancer antigen (CA) 12-5, and CA19-9 are often associatedwith malignant tumors in the liver or bile ducts. This is the first report to describea case of hepatic cyst with elevated levels of PIVKA-II and CA12-5.CASE SUMMARY An 84-year-old Chinese woman was admitted with gradual abdominal distension.Her symptoms started 1 year ago, and she had poor appetite and a weight loss of5 kg within the past 2 wk. She denied any symptoms associated with abdominalpain, fever and chills, nausea and vomiting, etc. The abdomen was enlarged, morein the right upper quadrant, without tenderness. Laboratory examination showedsignificantly increased serum levels of PIVKA-II, CA12-5, and CA19-9. Acomputed tomography scan revealed multiple round cysts in the liver with clearboundaries. The largest cyst was 20.1 cm × 12.2 cm × 19.6 cm in size, located in theright lobe of the liver with mild dilatation of the intrahepatic bile duct, but therewas no contrast enhancement. Percutaneous drainage on the largest hepatic cystand polycinnamol sclerosing agent injection into the cyst cavity were performed.After treatment, the patient’s symptoms relieved and the elevated serum tumormakers reduced to the normal levels dramatically.CONCLUSION The present report identifies an unusual case of a giant hepatic cyst with markedelevation of serum tumor marker levels of PIVKA-II, CA12-5, and CA19-9. Aftertreatment, these three serum markers dramatically decreased to normal levels.The mechanisms for the elevation of these tumor markers may be as follows: (1) Agiant hepatic cyst compresses the liver, causing injury to the hepatocytes, whichmay lead to secretion of a large amount of PIVKA-II;and (2) Some tumorassociatedantigens, such as carcinoembryonic antigen, CA19-9, CA12-5, andCA15-3, are expressed on inflammatory cells.
文摘BACKGROUND Only a few cases of giant pseudomeningoceles have been reported in the literature.Herein,we report a giant pseudomeningocele of the cervical spine that was found after cervical laminectomy for an epidural hematoma following epidural blockade.CASE SUMMARY A 47-year-old man presented with recurrent neck pain and posterior neck swelling after spinal surgery.Magnetic resonance imaging of the cervical spine revealed fluid collection(5.6 cm×6.6 cm×11.2 cm)at the C3-6 level;this proved to be a pseudomeningocele.Symptoms related to the pseudomeningocele resolved following dural repair and fat graft transplantation.CONCLUSION Although rare,pseudomeningocele is a possibility in patients with recurrent back pain,radicular pain,or a persistent headache following spinal surgery.Continuous attention should be paid throughout the spinal procedure,whether conservative or non-conservative.
基金Spark program of earthquake sciences (XH13012, XH12026Y) National Key Technology R&D Program (2009BAK55B01)
文摘We present a new strategy to estimate the geometry of a rupture on a finite fault for rapid reporting of seismic intensity. We use envelope attenuation relationships which were presented by Huo et al. （Acta Seismol Sin 16：519-525, 1994）. An important base of this work is the fault finiteness theory. We propose a new model to simulate high-frequency motions from earthquakes with large rupture dimension. The envelope of high-frequency ground motion from a large earthquake can be expressed as a rootmean-squared combination of envelope functions from smaller earthquakes. We use simulated envelopes of ground acceleration to estimate the direction and alongstrike length of a rupture. Using the Wenchuan and Jiji （Chi-Chi） earthquake dataset, we parameterize the fault geometry with an epicenter, a fault strike, and along-strike rupture lengths. So this methodology seems quite appropriate for the rapid reporting systems of seismic intensity.
