BACKGROUND Rupture of an intracranial aneurysm is a type of acute stroke that is a serious threat to human health.Misdiagnosis of ruptured intracranial aneurysms is a serious clinical event that may have disastrous co...BACKGROUND Rupture of an intracranial aneurysm is a type of acute stroke that is a serious threat to human health.Misdiagnosis of ruptured intracranial aneurysms is a serious clinical event that may have disastrous consequences in some patients.To date,ruptured intracranial aneurysms have been misdiagnosed as meningitis,tumors,stroke,or trauma,among other conditions.Here,we report what appears to be the first case of a ruptured intracranial aneurysm that presented as cerebral circulation insufficiency.CASE SUMMARY A middle-aged man was admitted to our hospital because of a parasellar lesion identified on a noncontrast computed tomography(CT)image after a mild traffic accident that was caused by a brief loss of consciousness.Notably,he was diagnosed with cerebral circulation insufficiency after two unexplained episodes of a transient loss of consciousness within the past 8 mo.The patient was diagnosed with right internal carotid artery aneurysm based on CT angiography and completely recovered after a craniotomy at our hospital.A few clots and severe adhesions around the aneurysm were observed in the subarachnoid space during the operation,suggesting that the aneurysm had ruptured and may had been misdiagnosed as cerebral circulation insufficiency.CONCLUSION Ruptured intracranial aneurysms may show negative imaging results and present as cerebral circulation insufficiency,which should be recognized as soon as possible to ensure timely management.展开更多
BACKGROUND Addison’s disease(AD)is a rare but potentially fatal disease in Western countries,which can easily be misdiagnosed at an early stage.Severe adrenal tuberculosis(TB)may lead to depression in patients.CASE S...BACKGROUND Addison’s disease(AD)is a rare but potentially fatal disease in Western countries,which can easily be misdiagnosed at an early stage.Severe adrenal tuberculosis(TB)may lead to depression in patients.CASE SUMMARY We report a case of primary adrenal insufficiency secondary to adrenal TB with TB in the lungs and skin in a 48-year-old woman.The patient was misdiagnosed with depression because of her depressed mood.She had hyperpigmentation of the skin,nails,mouth,and lips.The final diagnosis was adrenal TB that resulted in the insufficient secretion of adrenocortical hormone.Adrenocortical hormone test,skin biopsy,T cell spot test of TB,and adrenal computed tomography scan were used to confirm the diagnosis.The patient’s condition improved after hormone replacement therapy and TB treatment.CONCLUSION Given the current status of TB in high-burden countries,outpatient doctors should be aware of and pay attention to TB and understand the early symptoms of AD.展开更多
BACKGROUND Heparin-induced thrombocytopenia(HIT)is a rare complication of heparin therapy,and is characterized by arteriovenous thrombosis and bleeding events.The incidence of HIT after percutaneous coronary intervent...BACKGROUND Heparin-induced thrombocytopenia(HIT)is a rare complication of heparin therapy,and is characterized by arteriovenous thrombosis and bleeding events.The incidence of HIT after percutaneous coronary intervention(PCI)in patients with myocardial infarction complicated with renal failure is rarely reported.CASE SUMMARY We report a 73-year-old man with acute myocardial infarction and renal failure who underwent hemodialysis and PCI,and developed a progressive decline in platelets and subcutaneous hemorrhage of both upper limbs after heparin treatment.In addition to a gradual decrease in platelets,the patient’s 4T's score was 7,and HIT antibody was positive,confirming the diagnosis of HIT.CONCLUSION Patients receiving heparin combined with antiplatelet therapy should be monitored closely,especially for their platelet count.In the case of thrombocytopenia,HIT should be highly suspected.When the diagnosis of HIT is confirmed,timely individualized treatment should be delivered.展开更多
BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical ...BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related defects.CASE SUMMARY The patient was a girl aged 2 years and 10 mo.She was hospitalized due to walking disorder for>40 d.The clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid ptosis.Within 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she died.Changes were found in cranial imaging,including cerebellar edema accompanied by symmetrical myelopathy.Through whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733A>C(p.Lys245Gln,dbSNP:rs770023429)and novel variation c.370G>T(p.Gly124Cys)in the germline gene.The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.CONCLUSION This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China' Mainland.The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.展开更多
BACKGROUND Thymolipoma is a rare benign tumor arising from the anterior mediastinal thymus and is composed of mature fatty tissue and interspersed nonneoplastic thymic tissue. This tumor accounts for only a small perc...BACKGROUND Thymolipoma is a rare benign tumor arising from the anterior mediastinal thymus and is composed of mature fatty tissue and interspersed nonneoplastic thymic tissue. This tumor accounts for only a small percentage of mediastinal masses, and the majority of them are asymptomatic and found incidentally. To date, fewer than 200 cases have been published in the world literature, of which most excised tumors weighed less than 0.5 kg and the largest weighed 6 kg.CASE SUMMARY A 23-year-old man presented with a complaint of progressive breathlessness for 6mo. His forced vital capacity was only 23.6% of the predicted capacity, and his arterial partial pressure of oxygen and carbon dioxide were 51 and 60 mmHg,respectively, without oxygen inhalation. Chest computed tomography revealed a large fat-containing mass in the anterior mediastinum that measured 26 cm × 20cm × 30 cm in size and occupied most of the thoracic cavity. Percutaneous mass biopsy revealed only thymic tissue without signs of malignancy. A right posterolateral thoracotomy was successfully performed to remove the tumor along with the capsule, and the excised tumor weighed 7.5 kg, which to our knowledge, was the largest surgically removed tumor of thymic origin. Postoperatively, the patient’s shortness of breath was resolved, and the histopathological diagnosis was thymolipoma. No signs of recurrence were observed at the 6-mo follow-up.CONCLUSION Giant thymolipoma causing respiratory failure is rare and dangerous. Despite the high risks, surgical resection is feasible and effective.展开更多
BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlan...BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlantoaxial rather than mid-cervical VA compromise,the latter being rarely reported.Herein,we detail successful VA decompression at mid-cervical spine,given a departure from its usual course.CASE SUMMARY The patient,a 45-year-old man,presented to our hospital with occipital headache and vertigo.Computed tomography angiography showed anomalous C4 entry of right VA,with compression upon head rotation to that side.Thyroid cartilage and anterior tubercle of C5 transverse process were visibly at fault.We opted for sur-gery,using an anterior cervical approach to remove the anterior tubercle.Patient recovery was uneventful and brought resolution of all preoperative symptoms.CONCLUSION BHS is an important consideration where aberrant coursing of VA and neurologic symptoms coexist.展开更多
BACKGROUND Empty sella is an anatomical and radiological finding of the herniation of the subarachnoid space into the pituitary fossa leading to a flattened pituitary gland.Patients with empty sella may present with v...BACKGROUND Empty sella is an anatomical and radiological finding of the herniation of the subarachnoid space into the pituitary fossa leading to a flattened pituitary gland.Patients with empty sella may present with various symptoms,including headache due to intracranial hypertension and endocrine symptoms related to the specific pituitary hormones affected.Here,we report a female patient who developed persistent postoperative hypotension caused by subclinical empty sella syndrome after a simple surgery.CASE SUMMARY A 47-year-old woman underwent vocal cord polypectomy under general anesthesia with endotracheal intubation.She denied any medical history,and her vital signs were normal before the surgery.Anesthesia and surgery were uneventful.However,she developed dizziness,headache and persistent hypotension in the ward.Thus,intravenous dopamine was started to maintain normal blood pressure,which improved her symptoms.However,she remained dependent on dopamine for over 24 h without any obvious anesthesia-and surgery-related complications.An endocrine etiology was then suspected,and further examination showed a high prolactin level,a low normal adrenocorticotropic hormone level and a low cortisol level.Magnetic resonance imaging of the brain revealed an empty sella.Therefore,she was diagnosed with empty sella syndrome and secondary adrenal insufficiency.Her symptoms disappeared one week later after daily glucocorticoid supplement.CONCLUSION Endocrine etiologies such as pituitary and adrenal-related dysfunction should be considered in patients showing persistent postoperative hypotension when anesthesia-and surgery-related factors are excluded.展开更多
BACKGROUND Cardiac injury may occur after acute pathology of central nervous system(CNS)without any evidence of primary cardiac diseases.The resulting structural and/or functional changes are called cerebrocardiac syn...BACKGROUND Cardiac injury may occur after acute pathology of central nervous system(CNS)without any evidence of primary cardiac diseases.The resulting structural and/or functional changes are called cerebrocardiac syndrome(CCS).The great majority of studies have been performed in patients with subarachnoid hemorrhage(SAH),while CCS data after intracerebral hemorrhage(ICH)are rare.It may cause diagnostic and therapeutic pitfalls for the clinician due to a lack of specific clinical manifestations and diagnostic methods.Understanding the underlying pathophysiological and molecular mechanism(s)following cerebrovascular incidents will help to implement prevention and treatment strategies to improve the prognosis.CASE SUMMARY A 37-year-old man with a history of hypertension presented to our department on an emergency basis because of a sudden dizziness and left limb weakness.Cerebral computed tomography(CT)suggested ICH in the occipital and parietal lobes,and the chosen emergency treatment was hematoma evacuation.Left ventricular(LV)dysfunction occurred after the next 48 h and the electrocardiogram(ECG)showed non-ST elevation myocardial infarction.CCS was suspected first in the context of ICH due to the negative result of the coronary CT angiogram.CONCLUSION Misinterpretation of ischemic-like ECGs may lead to unnecessary or hazardous interventions and cause undue delay of rehabilitation after stroke.Our objective is to highlight the clinical implications of CCS and we hope the differential diagnoses will be considered in patients with acute CNS diseases.展开更多
BACKGROUND The growing popularity of marathon and half-marathon runs has led to an increased number of patients presenting with exertion-induced heat stroke. Mild hepatic involvement is often observed in these patient...BACKGROUND The growing popularity of marathon and half-marathon runs has led to an increased number of patients presenting with exertion-induced heat stroke. Mild hepatic involvement is often observed in these patients;however, fulminant liver failure may occur in approximately 5% of all cases. Liver transplantation is a potentially curative approach for exertion-induced liver failure, although there is a lack of consensus regarding the criteria and optimal timing of this intervention. CASE SUMMARY This paper describes 5 patients (4 men and 1 woman) who were referred to the department where this study was performed with the diagnosis of exertioninduced acute liver failure. Three patients underwent liver transplantation, 1 recovered spontaneously, and 1 patient died on day 11 following the exertion. CONCLUSION Exertion-induced heat stroke may present as fulminant liver failure. These patients may recover with conservative treatment, may require liver transplantation, or may die. No definitive criteria are available to determine patient suitability for a conservative vs surgical approach.展开更多
BACKGROUND An aneurysm of the left atrial appendage is one of the rare but potentially hazardous heart defects.The risk of lethal complications grows with its size.To date,about 150 cases of this defect have been desc...BACKGROUND An aneurysm of the left atrial appendage is one of the rare but potentially hazardous heart defects.The risk of lethal complications grows with its size.To date,about 150 cases of this defect have been described in the literature.We present a case of left atrial appendage aneurysm with the deformation of the mitral valve and the left main coronary and circumflex artery,which required mitral valve annuloplasty and bifurcation stenting.CASE SUMMARY A 58-year-old man presented to our hospital complaining of shortness of breath,general weakness,dizziness during physical exertion,and fatigue.Based on the results of echocardiography,an aneurysm of the left atrium was suspected.A free-breathing real-time cine magnetic resonance imaging with electrocardiograph synchronization confirmed the diagnosis of left atrial appendage aneurysm.The patient underwent an aneurysmectomy via a median sternotomy with cardiopulmonary bypass.Intraoperative transesophageal echocardiography revealed relative mitral insufficiency that was corrected with an annuloplasty ring.Intraoperative coronary angiogram showed impaired blood flow in the left main coronary and circumflex artery and 60%stenosis.For this reason,bifurcation stenting was performed.The patient had an uneventful postoperative clinical course and was discharged from the hospital on the 10th day in a satisfactory condition.CONCLUSION Left atrial appendage aneurysm is a rare and dangerous heart pathology that requires surgery to prevent related complications.展开更多
BACKGROUND In atrophic posterior mandibular areas,where the bone height superior to the inferior alveolar nerve(IAN)is less than 6 mm,short implants are not applicable.Conventional alternatives such as IAN transpositi...BACKGROUND In atrophic posterior mandibular areas,where the bone height superior to the inferior alveolar nerve(IAN)is less than 6 mm,short implants are not applicable.Conventional alternatives such as IAN transposition and various alveolar bone augmentation approaches are technically demanding and prone to complications.CASE SUMMARY Computer-guided dynamic navigation implantation improves the accuracy,predictability,and safety of implant placement.This case report presents a dynamic navigation system-guided trans-IAN implant placement technique,which can successfully treat a posterior mandibular dentition defect when the bone height is only 4.5 mm.The implant was inserted into the buccal side of the IAN and was 1.7 mm away from the IAN.The implantation deviations were controlled within a satisfying range,and the long-term restoration outcome was stable.CONCLUSION Dynamic navigation system-guided trans-IAN implant placement might be a recommended technique for patients with extremely insufficient residual bone height and sufficient bone width in the posterior mandibular area.展开更多
BACKGROUND Esophagogastric leakage is one of the most severe postoperative complications.Partial disruption of the anastomosis,can be successfully treated with an endoscopic vacuum assisted closure(E-VAC).The advantag...BACKGROUND Esophagogastric leakage is one of the most severe postoperative complications.Partial disruption of the anastomosis,can be successfully treated with an endoscopic vacuum assisted closure(E-VAC).The advantage of that method of treatment is the ability to adjust a vacuum dressing individually to the size of the dehiscence and thus to reduce the risk of a secondary fistula or abscess.The authors present two patients with postoperative gastroesophageal leakage treated successfully with E-VAC.CASE SUMMARY Two male patients developed a potentially life threatening esophagogastric leakage.Patient A underwent resection of the distal half of the esophagus and upper part of the stomach due to Siewert type II adenocarcinoma of the gastroesophageal junction.Proximal resection of the stomach was performed in the patient B after massive bleeding from Mallory-Weiss tears.Both patients were treated successfully with an individually adapted E-VAC with concomitant correction of fluid and electrolyte disturbances,and treatment of sepsis with appropriate antibiotics.CONCLUSION Endoscopic vacuum closure is an effective alternative to endoscopic stenting or relaparotomy.Through individual approach it allows a more accurate assessment of healing.展开更多
BACKGROUND Nafamostat mesylate(NM)may prove to be one of the key drugs effective against coronavirus disease 2019(COVID-19)because of its anti-viral properties and the potential to manage coagulopathy.However,NM tends...BACKGROUND Nafamostat mesylate(NM)may prove to be one of the key drugs effective against coronavirus disease 2019(COVID-19)because of its anti-viral properties and the potential to manage coagulopathy.However,NM tends to increase serum potassium levels.CASE SUMMARY We observed hyperkalemia immediately after NM administration(200 mg/d)in four consecutive patients who were admitted to the Kanazawa University Hospital with severe COVID-19 pneumonia.Urinary potassium excretion decreased after NM administration in three patients who underwent urinalysis.CONCLUSION NM is likely to produce hyperkalemia in patients with COVID-19.Therefore,it is necessary to monitor serum potassium values closely after NM initiation in COVID-19 patients who need respiratory support.展开更多
BACKGROUND Systemic lupus erythematosus(SLE)and antineutrophil cytoplasmic antibodyassociated vasculitis(AAV)are classically thought to cause renal impairment and small vessel vasculitis with different pathophysiologi...BACKGROUND Systemic lupus erythematosus(SLE)and antineutrophil cytoplasmic antibodyassociated vasculitis(AAV)are classically thought to cause renal impairment and small vessel vasculitis with different pathophysiologies.Their overlap constitutes a rare rheumatologic disease.To date,only dozens of such cases with biopsyproven glomerulonephritis have been reported worldwide typically in women of childbearing age.Here,we present a unique clinical case due to its rarity and individualized treatment of a Chinese man in his eighth decade of life.CASE SUMMARY A 77-year-old man was admitted to several hospitals for shortness of breath and received nonspecific treatments over the past 3 years.As his symptoms were not completely relieved,he visited our hospital for further treatment.Laboratory examinations revealed kidney dysfunction,severe anaemia,hypocomplementemia,glomerular proteinuria,and microscopic haematuria.Antinuclear antibodies,as well as anti-dsDNA antibodies,were positive.Computed tomography of the chest showed right pleural effusion.Renal biopsy was performed,and histology suggested crescentic glomerulonephritis,pauci-immune type.After treatment with plasmapheresis,glucocorticoid,and cyclophosphamide,the disease was in remission,and the patient remained in a stable condition for over 3 years post-hospital discharge.CONCLUSION Due to its complexity and rarity,SLE and AAV overlap syndrome is easily misdiagnosed.An accurate diagnosis and treatment at the earliest stage may significantly improve the condition and reduce irreversible organ injury.展开更多
BACKGROUND Acute phosphate nephropathy(APN)is a disease that can occur when exposed to high doses of phosphate.The most common cause of APN is the use of oral sodium phosphate for bowel cleansing preparations.However,...BACKGROUND Acute phosphate nephropathy(APN)is a disease that can occur when exposed to high doses of phosphate.The most common cause of APN is the use of oral sodium phosphate for bowel cleansing preparations.However,there are other less commonly known sources of phosphate that are equally important.To date,our literature search did not identify any report of excessive dietary phosphate as a cause of APN.CASE SUMMARY We report an unusual case of a 39-year-old diabetic male who presented with epigastric pain and oliguria.Work-up showed elevated serum creatinine,potassium,and calcium-phosphate product,and metabolic acidosis.The patient was admitted in the intensive care unit and received emergent renal replacement therapy.Kidney biopsy revealed tubular cell injury with transparent crystal casts positive for Von Kossa staining,which established the diagnosis of APN.CONCLUSION This case confirmed that APN may occur with other sources of phosphorus,highlighting the importance of good history taking and kidney biopsy in patients with predisposing factors for APN.Raising awareness on the possibility of APN and its timely recognition and management is imperative so that appropriate measures can be instituted to prevent or delay its progression to end stage renal disease.展开更多
BACKGROUND Quadricuspid aortic valve(QAV)is a very rare congenital cardiac defect with the incidence of 0.0125%-0.033%(<0.05%)predominantly causing aortic regurgitation.A certain number of patients(nearly one-half)...BACKGROUND Quadricuspid aortic valve(QAV)is a very rare congenital cardiac defect with the incidence of 0.0125%-0.033%(<0.05%)predominantly causing aortic regurgitation.A certain number of patients(nearly one-half)have abnormal function and often require surgery,commonly in their fifth or sixth decade.QAV usually appears as an isolated anomaly but may also be associated with other cardiac congenital defects.Echocardiography is considered the main diagnostic method although more and more importance is given to computed tomography(CT)and magnetic resonance imaging(MRI)as complementary methods.CASE SUMMARY A 60-year-old female patient was referred for transthoracic ultrasound of the heart as part of a routine examination in the treatment of arterial hypertension.She did not have any significant symptoms.QAV was confirmed and there were no elements of valve stenosis with moderate aortic regurgitation.At first,it seemed that in the projection of the presumed left coronary cusp,there were two smaller and equally large cusps along with two larger and normally developed cusps.Cardiac CT imaging was performed to obtain an even more precise valve morphology and it showed that the location of the supernumerary cusp is between the right and left coronary cusp,with visible central malcoaptation of the cusps.Also,coronary computed angiography confirmed the right-type of myocardial bridging at the distal segment of the left anterior descending coronary artery.Significant valve dysfunction often occurs in middle-aged patients and results in surgical treatment,therefore,a 1-year transthoracic echocardiogram control examination and follow-up was recommended to our patient.CONCLUSION This case highlights the importance of diagnosing QAV since it leads to progressive valve dysfunction and can be associated with other congenital heart defects which is important to detect,emphasizing the role of cardiac CT and MRI.展开更多
BACKGROUND Corrected transposition of the great arteries(cTGA) is a cardiac malformation in which the ventricular and arterial-ventricular positions in the heart are doubly reversed.In general,this defect puts a load ...BACKGROUND Corrected transposition of the great arteries(cTGA) is a cardiac malformation in which the ventricular and arterial-ventricular positions in the heart are doubly reversed.In general,this defect puts a load on the systemic circulation and causes heart failure,resulting in a poor prognosis.This article reports a case of cTGA detected in a patient with post-caesarean pregnancy who had undergone elective caesarean section and was experiencing an episode of acute heart failure.CASE SUMMARY This was the case of a 36-year-old gravida 3 para 1 woman.No problems were noted in the puerperal course following the previous pregnancy.The current pregnancy was also uneventful.An elective caesarean section was performed and the patient was discharged from the hospital 7 d after the operation.On postoperative day 18,the patient became aware of breathing difficulty and presented at a nearby clinic,where she was referred to our institution after bilateral pleural effusions were detected.She was then diagnosed with acute heart failure after noting the presence of a prominent pedal oedema and SpO_(2) 91%(supine position and room air);the patient was promptly hospitalised for close examination and treatment.Although chest computed tomography revealed the presence of cTGA,no other cardiac malformations were observed.Owing to improvements in both the pedal oedema and pleural effusions,the patient was discharged on day 9.CONCLUSION Close examination should be performed on the premise of congenital cardiac malformation when heart failure symptoms are noted during perinatal control.展开更多
BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of li...BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of life,salt loss,glucocorticoid and mineralocorticoid deficiency,and female external genitalia,regardless of chromosomal karyotype.Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.CASE SUMMARY Herein,We report the case of a woman with non-classic lipoid CAH combined with Graves’disease.Her chromosome karyotype was 46,XX,and highthroughput sequencing revealed two missense variants in the StAR gene:c.229C>T(p.Q77X)and c.814C>T(p.R272C),which were inherited from both parents(non-close relatives).The patient was treated for Graves’disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves’disease.CONCLUSION This is the first case of non-classic lipoid CAH combined with Graves’disease reported in the Chinese population.In addition to conventional glucocorticoid replacement therapy,timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves’disease.展开更多
BACKGROUND Proliferative glomerulonephritis with monoclonal immunoglobulin G(IgG)deposits(PGNMID)is a newly recognized rare disease.The renal pathology is characterized by prominent manifestations of membranous hyperp...BACKGROUND Proliferative glomerulonephritis with monoclonal immunoglobulin G(IgG)deposits(PGNMID)is a newly recognized rare disease.The renal pathology is characterized by prominent manifestations of membranous hyperplasia,which are easy to misdiagnose.The clinical symptoms are severe.Massive proteinuria and hypoproteinemia are conspicuous,and most patients are accompanied by renal insufficiency and microscopic hematuria.CASE SUMMARY A 27-year-old woman was admitted to a hospital for macroscopic hematuria and proteinuria 4 years prior,and renal biopsy in the hospital suggested moderate-tosevere mesangial proliferating glomerulonephritis(MsPGN).She had taken a glucocorticoid,cyclophosphamide,mycophenolate mofetil,and other treatments and achieved brief partial remission.Recently,the patient visited our hospital due to massive proteinuria.Repeated renal biopsy and re-evaluation of the first biopsy obtained 4 years previously revealed monoclonal immunoglobulin deposition in the glomeruli.A bone marrow examination was performed to exclude hematologic malignancy,and a diagnosis of PGNMID was established.The patient showed remission after four cycles of a bortezomib+cyclophosphamide+dexamethasone scheme.CONCLUSION PGNMID is usually misdiagnosed as MsPGN or membranoproliferative glomerulonephritis.Although it often occurs in middle-aged and elderly individuals,it cannot be readily excluded in young people,even when serum immunofixation electrophoresis is negative.IgG subtype and light chain staining are necessary when this disease is highly suspected.An accurate diagnosis at the earliest stage may avoid the overuse of glucocorticoids and immunosuppressants.展开更多
基金Supported by the Science and Technology Planning Project of Sichuan,No.2011JY0062.
文摘BACKGROUND Rupture of an intracranial aneurysm is a type of acute stroke that is a serious threat to human health.Misdiagnosis of ruptured intracranial aneurysms is a serious clinical event that may have disastrous consequences in some patients.To date,ruptured intracranial aneurysms have been misdiagnosed as meningitis,tumors,stroke,or trauma,among other conditions.Here,we report what appears to be the first case of a ruptured intracranial aneurysm that presented as cerebral circulation insufficiency.CASE SUMMARY A middle-aged man was admitted to our hospital because of a parasellar lesion identified on a noncontrast computed tomography(CT)image after a mild traffic accident that was caused by a brief loss of consciousness.Notably,he was diagnosed with cerebral circulation insufficiency after two unexplained episodes of a transient loss of consciousness within the past 8 mo.The patient was diagnosed with right internal carotid artery aneurysm based on CT angiography and completely recovered after a craniotomy at our hospital.A few clots and severe adhesions around the aneurysm were observed in the subarachnoid space during the operation,suggesting that the aneurysm had ruptured and may had been misdiagnosed as cerebral circulation insufficiency.CONCLUSION Ruptured intracranial aneurysms may show negative imaging results and present as cerebral circulation insufficiency,which should be recognized as soon as possible to ensure timely management.
文摘BACKGROUND Addison’s disease(AD)is a rare but potentially fatal disease in Western countries,which can easily be misdiagnosed at an early stage.Severe adrenal tuberculosis(TB)may lead to depression in patients.CASE SUMMARY We report a case of primary adrenal insufficiency secondary to adrenal TB with TB in the lungs and skin in a 48-year-old woman.The patient was misdiagnosed with depression because of her depressed mood.She had hyperpigmentation of the skin,nails,mouth,and lips.The final diagnosis was adrenal TB that resulted in the insufficient secretion of adrenocortical hormone.Adrenocortical hormone test,skin biopsy,T cell spot test of TB,and adrenal computed tomography scan were used to confirm the diagnosis.The patient’s condition improved after hormone replacement therapy and TB treatment.CONCLUSION Given the current status of TB in high-burden countries,outpatient doctors should be aware of and pay attention to TB and understand the early symptoms of AD.
文摘BACKGROUND Heparin-induced thrombocytopenia(HIT)is a rare complication of heparin therapy,and is characterized by arteriovenous thrombosis and bleeding events.The incidence of HIT after percutaneous coronary intervention(PCI)in patients with myocardial infarction complicated with renal failure is rarely reported.CASE SUMMARY We report a 73-year-old man with acute myocardial infarction and renal failure who underwent hemodialysis and PCI,and developed a progressive decline in platelets and subcutaneous hemorrhage of both upper limbs after heparin treatment.In addition to a gradual decrease in platelets,the patient’s 4T's score was 7,and HIT antibody was positive,confirming the diagnosis of HIT.CONCLUSION Patients receiving heparin combined with antiplatelet therapy should be monitored closely,especially for their platelet count.In the case of thrombocytopenia,HIT should be highly suspected.When the diagnosis of HIT is confirmed,timely individualized treatment should be delivered.
基金Supported by the Epilepsy Research Fund of Chinese Anti-Epilepsy Association,No.CU-A-2021-17Nanjing Municipal Health Bureau key project,No.ZKX21047the Postdoctoral Research Foundation of China,No.2020M671550。
文摘BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related defects.CASE SUMMARY The patient was a girl aged 2 years and 10 mo.She was hospitalized due to walking disorder for>40 d.The clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid ptosis.Within 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she died.Changes were found in cranial imaging,including cerebellar edema accompanied by symmetrical myelopathy.Through whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733A>C(p.Lys245Gln,dbSNP:rs770023429)and novel variation c.370G>T(p.Gly124Cys)in the germline gene.The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.CONCLUSION This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China' Mainland.The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.
基金Supported by Hunan Provincial Natural Science Foundation of China,No. 2022JJ40246Hunan Cancer Hospital Climb Plan,No. 2021NSFC-B005。
文摘BACKGROUND Thymolipoma is a rare benign tumor arising from the anterior mediastinal thymus and is composed of mature fatty tissue and interspersed nonneoplastic thymic tissue. This tumor accounts for only a small percentage of mediastinal masses, and the majority of them are asymptomatic and found incidentally. To date, fewer than 200 cases have been published in the world literature, of which most excised tumors weighed less than 0.5 kg and the largest weighed 6 kg.CASE SUMMARY A 23-year-old man presented with a complaint of progressive breathlessness for 6mo. His forced vital capacity was only 23.6% of the predicted capacity, and his arterial partial pressure of oxygen and carbon dioxide were 51 and 60 mmHg,respectively, without oxygen inhalation. Chest computed tomography revealed a large fat-containing mass in the anterior mediastinum that measured 26 cm × 20cm × 30 cm in size and occupied most of the thoracic cavity. Percutaneous mass biopsy revealed only thymic tissue without signs of malignancy. A right posterolateral thoracotomy was successfully performed to remove the tumor along with the capsule, and the excised tumor weighed 7.5 kg, which to our knowledge, was the largest surgically removed tumor of thymic origin. Postoperatively, the patient’s shortness of breath was resolved, and the histopathological diagnosis was thymolipoma. No signs of recurrence were observed at the 6-mo follow-up.CONCLUSION Giant thymolipoma causing respiratory failure is rare and dangerous. Despite the high risks, surgical resection is feasible and effective.
文摘BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlantoaxial rather than mid-cervical VA compromise,the latter being rarely reported.Herein,we detail successful VA decompression at mid-cervical spine,given a departure from its usual course.CASE SUMMARY The patient,a 45-year-old man,presented to our hospital with occipital headache and vertigo.Computed tomography angiography showed anomalous C4 entry of right VA,with compression upon head rotation to that side.Thyroid cartilage and anterior tubercle of C5 transverse process were visibly at fault.We opted for sur-gery,using an anterior cervical approach to remove the anterior tubercle.Patient recovery was uneventful and brought resolution of all preoperative symptoms.CONCLUSION BHS is an important consideration where aberrant coursing of VA and neurologic symptoms coexist.
文摘BACKGROUND Empty sella is an anatomical and radiological finding of the herniation of the subarachnoid space into the pituitary fossa leading to a flattened pituitary gland.Patients with empty sella may present with various symptoms,including headache due to intracranial hypertension and endocrine symptoms related to the specific pituitary hormones affected.Here,we report a female patient who developed persistent postoperative hypotension caused by subclinical empty sella syndrome after a simple surgery.CASE SUMMARY A 47-year-old woman underwent vocal cord polypectomy under general anesthesia with endotracheal intubation.She denied any medical history,and her vital signs were normal before the surgery.Anesthesia and surgery were uneventful.However,she developed dizziness,headache and persistent hypotension in the ward.Thus,intravenous dopamine was started to maintain normal blood pressure,which improved her symptoms.However,she remained dependent on dopamine for over 24 h without any obvious anesthesia-and surgery-related complications.An endocrine etiology was then suspected,and further examination showed a high prolactin level,a low normal adrenocorticotropic hormone level and a low cortisol level.Magnetic resonance imaging of the brain revealed an empty sella.Therefore,she was diagnosed with empty sella syndrome and secondary adrenal insufficiency.Her symptoms disappeared one week later after daily glucocorticoid supplement.CONCLUSION Endocrine etiologies such as pituitary and adrenal-related dysfunction should be considered in patients showing persistent postoperative hypotension when anesthesia-and surgery-related factors are excluded.
文摘BACKGROUND Cardiac injury may occur after acute pathology of central nervous system(CNS)without any evidence of primary cardiac diseases.The resulting structural and/or functional changes are called cerebrocardiac syndrome(CCS).The great majority of studies have been performed in patients with subarachnoid hemorrhage(SAH),while CCS data after intracerebral hemorrhage(ICH)are rare.It may cause diagnostic and therapeutic pitfalls for the clinician due to a lack of specific clinical manifestations and diagnostic methods.Understanding the underlying pathophysiological and molecular mechanism(s)following cerebrovascular incidents will help to implement prevention and treatment strategies to improve the prognosis.CASE SUMMARY A 37-year-old man with a history of hypertension presented to our department on an emergency basis because of a sudden dizziness and left limb weakness.Cerebral computed tomography(CT)suggested ICH in the occipital and parietal lobes,and the chosen emergency treatment was hematoma evacuation.Left ventricular(LV)dysfunction occurred after the next 48 h and the electrocardiogram(ECG)showed non-ST elevation myocardial infarction.CCS was suspected first in the context of ICH due to the negative result of the coronary CT angiogram.CONCLUSION Misinterpretation of ischemic-like ECGs may lead to unnecessary or hazardous interventions and cause undue delay of rehabilitation after stroke.Our objective is to highlight the clinical implications of CCS and we hope the differential diagnoses will be considered in patients with acute CNS diseases.
基金Supported by the Foundation for Polish Science(FNP)with START stipend,No.START 032.2018
文摘BACKGROUND The growing popularity of marathon and half-marathon runs has led to an increased number of patients presenting with exertion-induced heat stroke. Mild hepatic involvement is often observed in these patients;however, fulminant liver failure may occur in approximately 5% of all cases. Liver transplantation is a potentially curative approach for exertion-induced liver failure, although there is a lack of consensus regarding the criteria and optimal timing of this intervention. CASE SUMMARY This paper describes 5 patients (4 men and 1 woman) who were referred to the department where this study was performed with the diagnosis of exertioninduced acute liver failure. Three patients underwent liver transplantation, 1 recovered spontaneously, and 1 patient died on day 11 following the exertion. CONCLUSION Exertion-induced heat stroke may present as fulminant liver failure. These patients may recover with conservative treatment, may require liver transplantation, or may die. No definitive criteria are available to determine patient suitability for a conservative vs surgical approach.
文摘BACKGROUND An aneurysm of the left atrial appendage is one of the rare but potentially hazardous heart defects.The risk of lethal complications grows with its size.To date,about 150 cases of this defect have been described in the literature.We present a case of left atrial appendage aneurysm with the deformation of the mitral valve and the left main coronary and circumflex artery,which required mitral valve annuloplasty and bifurcation stenting.CASE SUMMARY A 58-year-old man presented to our hospital complaining of shortness of breath,general weakness,dizziness during physical exertion,and fatigue.Based on the results of echocardiography,an aneurysm of the left atrium was suspected.A free-breathing real-time cine magnetic resonance imaging with electrocardiograph synchronization confirmed the diagnosis of left atrial appendage aneurysm.The patient underwent an aneurysmectomy via a median sternotomy with cardiopulmonary bypass.Intraoperative transesophageal echocardiography revealed relative mitral insufficiency that was corrected with an annuloplasty ring.Intraoperative coronary angiogram showed impaired blood flow in the left main coronary and circumflex artery and 60%stenosis.For this reason,bifurcation stenting was performed.The patient had an uneventful postoperative clinical course and was discharged from the hospital on the 10th day in a satisfactory condition.CONCLUSION Left atrial appendage aneurysm is a rare and dangerous heart pathology that requires surgery to prevent related complications.
基金Supported by Clinical New Technology and New Business Project (2021)School and Hospital of Stomatology of Wuhan University
文摘BACKGROUND In atrophic posterior mandibular areas,where the bone height superior to the inferior alveolar nerve(IAN)is less than 6 mm,short implants are not applicable.Conventional alternatives such as IAN transposition and various alveolar bone augmentation approaches are technically demanding and prone to complications.CASE SUMMARY Computer-guided dynamic navigation implantation improves the accuracy,predictability,and safety of implant placement.This case report presents a dynamic navigation system-guided trans-IAN implant placement technique,which can successfully treat a posterior mandibular dentition defect when the bone height is only 4.5 mm.The implant was inserted into the buccal side of the IAN and was 1.7 mm away from the IAN.The implantation deviations were controlled within a satisfying range,and the long-term restoration outcome was stable.CONCLUSION Dynamic navigation system-guided trans-IAN implant placement might be a recommended technique for patients with extremely insufficient residual bone height and sufficient bone width in the posterior mandibular area.
文摘BACKGROUND Esophagogastric leakage is one of the most severe postoperative complications.Partial disruption of the anastomosis,can be successfully treated with an endoscopic vacuum assisted closure(E-VAC).The advantage of that method of treatment is the ability to adjust a vacuum dressing individually to the size of the dehiscence and thus to reduce the risk of a secondary fistula or abscess.The authors present two patients with postoperative gastroesophageal leakage treated successfully with E-VAC.CASE SUMMARY Two male patients developed a potentially life threatening esophagogastric leakage.Patient A underwent resection of the distal half of the esophagus and upper part of the stomach due to Siewert type II adenocarcinoma of the gastroesophageal junction.Proximal resection of the stomach was performed in the patient B after massive bleeding from Mallory-Weiss tears.Both patients were treated successfully with an individually adapted E-VAC with concomitant correction of fluid and electrolyte disturbances,and treatment of sepsis with appropriate antibiotics.CONCLUSION Endoscopic vacuum closure is an effective alternative to endoscopic stenting or relaparotomy.Through individual approach it allows a more accurate assessment of healing.
文摘BACKGROUND Nafamostat mesylate(NM)may prove to be one of the key drugs effective against coronavirus disease 2019(COVID-19)because of its anti-viral properties and the potential to manage coagulopathy.However,NM tends to increase serum potassium levels.CASE SUMMARY We observed hyperkalemia immediately after NM administration(200 mg/d)in four consecutive patients who were admitted to the Kanazawa University Hospital with severe COVID-19 pneumonia.Urinary potassium excretion decreased after NM administration in three patients who underwent urinalysis.CONCLUSION NM is likely to produce hyperkalemia in patients with COVID-19.Therefore,it is necessary to monitor serum potassium values closely after NM initiation in COVID-19 patients who need respiratory support.
文摘BACKGROUND Systemic lupus erythematosus(SLE)and antineutrophil cytoplasmic antibodyassociated vasculitis(AAV)are classically thought to cause renal impairment and small vessel vasculitis with different pathophysiologies.Their overlap constitutes a rare rheumatologic disease.To date,only dozens of such cases with biopsyproven glomerulonephritis have been reported worldwide typically in women of childbearing age.Here,we present a unique clinical case due to its rarity and individualized treatment of a Chinese man in his eighth decade of life.CASE SUMMARY A 77-year-old man was admitted to several hospitals for shortness of breath and received nonspecific treatments over the past 3 years.As his symptoms were not completely relieved,he visited our hospital for further treatment.Laboratory examinations revealed kidney dysfunction,severe anaemia,hypocomplementemia,glomerular proteinuria,and microscopic haematuria.Antinuclear antibodies,as well as anti-dsDNA antibodies,were positive.Computed tomography of the chest showed right pleural effusion.Renal biopsy was performed,and histology suggested crescentic glomerulonephritis,pauci-immune type.After treatment with plasmapheresis,glucocorticoid,and cyclophosphamide,the disease was in remission,and the patient remained in a stable condition for over 3 years post-hospital discharge.CONCLUSION Due to its complexity and rarity,SLE and AAV overlap syndrome is easily misdiagnosed.An accurate diagnosis and treatment at the earliest stage may significantly improve the condition and reduce irreversible organ injury.
文摘BACKGROUND Acute phosphate nephropathy(APN)is a disease that can occur when exposed to high doses of phosphate.The most common cause of APN is the use of oral sodium phosphate for bowel cleansing preparations.However,there are other less commonly known sources of phosphate that are equally important.To date,our literature search did not identify any report of excessive dietary phosphate as a cause of APN.CASE SUMMARY We report an unusual case of a 39-year-old diabetic male who presented with epigastric pain and oliguria.Work-up showed elevated serum creatinine,potassium,and calcium-phosphate product,and metabolic acidosis.The patient was admitted in the intensive care unit and received emergent renal replacement therapy.Kidney biopsy revealed tubular cell injury with transparent crystal casts positive for Von Kossa staining,which established the diagnosis of APN.CONCLUSION This case confirmed that APN may occur with other sources of phosphorus,highlighting the importance of good history taking and kidney biopsy in patients with predisposing factors for APN.Raising awareness on the possibility of APN and its timely recognition and management is imperative so that appropriate measures can be instituted to prevent or delay its progression to end stage renal disease.
文摘BACKGROUND Quadricuspid aortic valve(QAV)is a very rare congenital cardiac defect with the incidence of 0.0125%-0.033%(<0.05%)predominantly causing aortic regurgitation.A certain number of patients(nearly one-half)have abnormal function and often require surgery,commonly in their fifth or sixth decade.QAV usually appears as an isolated anomaly but may also be associated with other cardiac congenital defects.Echocardiography is considered the main diagnostic method although more and more importance is given to computed tomography(CT)and magnetic resonance imaging(MRI)as complementary methods.CASE SUMMARY A 60-year-old female patient was referred for transthoracic ultrasound of the heart as part of a routine examination in the treatment of arterial hypertension.She did not have any significant symptoms.QAV was confirmed and there were no elements of valve stenosis with moderate aortic regurgitation.At first,it seemed that in the projection of the presumed left coronary cusp,there were two smaller and equally large cusps along with two larger and normally developed cusps.Cardiac CT imaging was performed to obtain an even more precise valve morphology and it showed that the location of the supernumerary cusp is between the right and left coronary cusp,with visible central malcoaptation of the cusps.Also,coronary computed angiography confirmed the right-type of myocardial bridging at the distal segment of the left anterior descending coronary artery.Significant valve dysfunction often occurs in middle-aged patients and results in surgical treatment,therefore,a 1-year transthoracic echocardiogram control examination and follow-up was recommended to our patient.CONCLUSION This case highlights the importance of diagnosing QAV since it leads to progressive valve dysfunction and can be associated with other congenital heart defects which is important to detect,emphasizing the role of cardiac CT and MRI.
文摘BACKGROUND Corrected transposition of the great arteries(cTGA) is a cardiac malformation in which the ventricular and arterial-ventricular positions in the heart are doubly reversed.In general,this defect puts a load on the systemic circulation and causes heart failure,resulting in a poor prognosis.This article reports a case of cTGA detected in a patient with post-caesarean pregnancy who had undergone elective caesarean section and was experiencing an episode of acute heart failure.CASE SUMMARY This was the case of a 36-year-old gravida 3 para 1 woman.No problems were noted in the puerperal course following the previous pregnancy.The current pregnancy was also uneventful.An elective caesarean section was performed and the patient was discharged from the hospital 7 d after the operation.On postoperative day 18,the patient became aware of breathing difficulty and presented at a nearby clinic,where she was referred to our institution after bilateral pleural effusions were detected.She was then diagnosed with acute heart failure after noting the presence of a prominent pedal oedema and SpO_(2) 91%(supine position and room air);the patient was promptly hospitalised for close examination and treatment.Although chest computed tomography revealed the presence of cTGA,no other cardiac malformations were observed.Owing to improvements in both the pedal oedema and pleural effusions,the patient was discharged on day 9.CONCLUSION Close examination should be performed on the premise of congenital cardiac malformation when heart failure symptoms are noted during perinatal control.
文摘BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of life,salt loss,glucocorticoid and mineralocorticoid deficiency,and female external genitalia,regardless of chromosomal karyotype.Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.CASE SUMMARY Herein,We report the case of a woman with non-classic lipoid CAH combined with Graves’disease.Her chromosome karyotype was 46,XX,and highthroughput sequencing revealed two missense variants in the StAR gene:c.229C>T(p.Q77X)and c.814C>T(p.R272C),which were inherited from both parents(non-close relatives).The patient was treated for Graves’disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves’disease.CONCLUSION This is the first case of non-classic lipoid CAH combined with Graves’disease reported in the Chinese population.In addition to conventional glucocorticoid replacement therapy,timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves’disease.
文摘BACKGROUND Proliferative glomerulonephritis with monoclonal immunoglobulin G(IgG)deposits(PGNMID)is a newly recognized rare disease.The renal pathology is characterized by prominent manifestations of membranous hyperplasia,which are easy to misdiagnose.The clinical symptoms are severe.Massive proteinuria and hypoproteinemia are conspicuous,and most patients are accompanied by renal insufficiency and microscopic hematuria.CASE SUMMARY A 27-year-old woman was admitted to a hospital for macroscopic hematuria and proteinuria 4 years prior,and renal biopsy in the hospital suggested moderate-tosevere mesangial proliferating glomerulonephritis(MsPGN).She had taken a glucocorticoid,cyclophosphamide,mycophenolate mofetil,and other treatments and achieved brief partial remission.Recently,the patient visited our hospital due to massive proteinuria.Repeated renal biopsy and re-evaluation of the first biopsy obtained 4 years previously revealed monoclonal immunoglobulin deposition in the glomeruli.A bone marrow examination was performed to exclude hematologic malignancy,and a diagnosis of PGNMID was established.The patient showed remission after four cycles of a bortezomib+cyclophosphamide+dexamethasone scheme.CONCLUSION PGNMID is usually misdiagnosed as MsPGN or membranoproliferative glomerulonephritis.Although it often occurs in middle-aged and elderly individuals,it cannot be readily excluded in young people,even when serum immunofixation electrophoresis is negative.IgG subtype and light chain staining are necessary when this disease is highly suspected.An accurate diagnosis at the earliest stage may avoid the overuse of glucocorticoids and immunosuppressants.