Viral hepatitis is an important challenge to public health worldwide.As hepatitis B is well controlled due to vaccination,the disease burden caused by the spread of hepatitis C has become increasingly prominent.Hepati...Viral hepatitis is an important challenge to public health worldwide.As hepatitis B is well controlled due to vaccination,the disease burden caused by the spread of hepatitis C has become increasingly prominent.Hepatitis C is an infectious disease that is mainly blood-borne.The rate of chronicity ranges from 55% to 85% after people are infected with the hepatitis C virus （HCV）.展开更多
BACKGROUND Silver-Russell syndrome(SRS)is a clinically heterogeneous entity characterized by intrauterine and postnatal growth restriction,relative macrocephaly at birth,distinct facial features,and body asymmetry com...BACKGROUND Silver-Russell syndrome(SRS)is a clinically heterogeneous entity characterized by intrauterine and postnatal growth restriction,relative macrocephaly at birth,distinct facial features,and body asymmetry combined with other malformations.CASE SUMMARY Herein,we describe four individuals with SRS,focusing on their prenatal phenotype,postnatal presentation,diagnosis,and management.All cases had a typical phenotype,including postnatal growth failure,short stature(chronic malnutrition),and protruding forehead.Individually,they presented with feeding difficulties,leg length discrepancy,triangular face,or relative macrocephaly at birth,and each one exhibited distinct SRS features,including motor and/or speech delay,experiencing frequent hypoglycemic episodes.The fact that each patient exhibited a different combination of clinical findings underlines the heterogeneity of the syndrome.CONCLUSION SRS is diagnosed clinically.However,only 60%of cases are genetically confirmed,while most are sporadic.Although SRS is a well-described syndrome,a delayed diagnosis can have grave consequences on a child’s growth.Recombinant human growth hormone treatment is often initiated shortly after the diagnosis.The follow-up requires a multidisciplinary approach.展开更多
BACKGROUND Gastrointestinal diseases in young children are often anatomic or inflammatory in nature and can present with symptoms similar to those of Cow’s milk protein allergy(CMPA),complicating diagnosis.This case ...BACKGROUND Gastrointestinal diseases in young children are often anatomic or inflammatory in nature and can present with symptoms similar to those of Cow’s milk protein allergy(CMPA),complicating diagnosis.This case series highlights 3 pediatric patients initially misdiagnosed with CMPA,emphasizing the need for a thorough evaluation.CASE SUMMARY Case 1:A 3-year-old child with chronic abdominal distension and constipation was initially treated for CMPA and was later diagnosed with Hirschsprung disease through rectal biopsy.Surgical intervention involved a laparoscopic colostomy followed by a pull-through procedure,leading to a successful recovery.Case 2:A 2-month-old infant presented with greenish-yellow vomiting and abdominal distension.Initially misdiagnosed with CMPA,further investigation using barium studies revealed partial intestinal malrotation.The patient underwent a laparoscopic Ladd’s procedure and recovered well.Case 3:A 6-month-old infant with persistent vomiting and failure to thrive had been treated for CMPA.Detailed imaging studies indicated achalasia.The child underwent a Heller myotomy,which resulted in significant symptom improvement and weight gain CONCLUSION Thorough evaluation of gastrointestinal symptoms is necessary in children.A high suspicion for alternative diagnoses will prevent delays in accurate diagnosis and proper treatment,leading to improved outcomes.展开更多
BACKGROUND Postpancreatectomy hemorrhage is one of the most severe and life-threatening complications after pancreaticoduodenectomy.We present four cases of gastrointestinal bleeding patients to clarify its appropriat...BACKGROUND Postpancreatectomy hemorrhage is one of the most severe and life-threatening complications after pancreaticoduodenectomy.We present four cases of gastrointestinal bleeding patients to clarify its appropriate treatment and prevention.CASE SUMMARY The main symptoms included black stool,hematochezia,haematemesis,blood in the nasogastric tube,and hemorrhagic shock.The mean age was 66.25 years old and the median onset time was 340 d after the surgery.The bleeding location comprised gastrointestinal anastomosis,bile duct-jejunum anastomosis,and extraluminal bleeding.The possible causes included marginal ulcer,jejunal varix,and abdominal infection.Endoscopic hemostatic clips,as well as a covered stent using angiography,were utilized to stop the bleeding and three patients survived.Only one patient died of gastrointestinal bleeding,abdominal bleeding,abdominal infection,hypovolemic shock,and disseminated intravascular coagulation.CONCLUSION Early and effective endoscopic intervention is the key to successful hemostasis in patients with gastrointestinal bleeding after pancreatoduodenectomy.展开更多
BACKGROUNDGastrointestinal neuroendocrine carcinoma (GI NEC) has a low incidence rate andpoor prognosis. Most patients already have metastatic disease when they arediagnosed. Platinum chemotherapy is the main means of...BACKGROUNDGastrointestinal neuroendocrine carcinoma (GI NEC) has a low incidence rate andpoor prognosis. Most patients already have metastatic disease when they arediagnosed. Platinum chemotherapy is the main means of treating metastatic GINECs. There is a lack of effective treatment methods after chemotherapy failure.Therefore, Therefore, selecting appropriate posterior-line treatment programs toimprove the prognosis of patients is urgently needed.CASE SUMMARYA 64-year-old female was diagnosed with stage IV NEC of the rectum due toabdominal pain and rectal bleeding. After multiline chemotherapy, the conditionprogressed, and the patient was treated with a combination of camrelizumab and surufatinib. The efficacy evaluation revealed partial remission (PR) and stable conditions, with the expression ofthe tumor marker neuron-specific enolase (NSE) returning to normal. The adverse reactions were controllable, andthe overall condition was good, with weight gain achieved in the past four years. Another 51-year-old femaleexperienced recurrence and metastasis of a duodenal NEC after surgery. After multiline chemotherapy, shereceived sintilimab combined with surufatinib. The curative effect fluctuated between PR and stability. Duringtreatment, she recovered from immune-related diabetes and later died due to deterioration of her condition.During the treatment, the patient’s NSE level returned to normal.CONCLUSIONThe combination of antiangiogenic targeted drugs and immunotherapy provides a new therapeutic approach forthe treatment of metastatic GI-NECs.展开更多
Dear Editor,We report two rare cases of ocular perforating injuries caused by acupuncture needles.Both cases were approved by the Ethics Committee of Xi’an People’s Hospital(Xi’an No.4 Hospital)(KJLL-Z-K-2023060).W...Dear Editor,We report two rare cases of ocular perforating injuries caused by acupuncture needles.Both cases were approved by the Ethics Committee of Xi’an People’s Hospital(Xi’an No.4 Hospital)(KJLL-Z-K-2023060).Written informed consents were obtained from the patients.Acupuncture is an integral part of traditional Chinese medicine,and is widely used for the treatment of systemic diseases and ophthalmologic diseases^([1-8]),such as paralysis caused by stroke^([4]),diabetes^([7]),dry eye disease^([8]),pigmentary degeneration of retina,macular degeneration,glaucoma,and optic atrophy^([6]).Improper acupuncture technique can lead to accidents.展开更多
BACKGROUND Ulcerative colitis(UC)is a chronic and debilitating inflammatory bowel disease.Cumulative evidence indicates that excess hydrogen peroxide,a potent neutrophilic chemotactic agent,produced by colonic epithel...BACKGROUND Ulcerative colitis(UC)is a chronic and debilitating inflammatory bowel disease.Cumulative evidence indicates that excess hydrogen peroxide,a potent neutrophilic chemotactic agent,produced by colonic epithelial cells has a causal role leading to infiltration of neutrophils into the colonic mucosa and subsequent development of UC.This evidence-based mechanism identifies hydrogen peroxide as a therapeutic target for reducing agents in the treatment of UC.CASE SUMMARY Presented is a 41-year-old female with a 26-year history of refractory UC.Having developed steroid dependence and never achieving complete remission on treatment by conventional and advanced therapies,she began treatment with oral R-dihydrolipoic acid(RDLA),a lipid-soluble reducing agent with intracellular site of action.Within a week,rectal bleeding ceased.She was asymptomatic for three years until a highly stressful experience,when she noticed blood in her stool.RDLA was discontinued,and she began treatment with oral sodium thiosulfate pentahydrate(STS),a reducing agent with extracellular site of action.After a week,rectal bleeding ceased,and she resumed oral RDLA and discontinued STS.To date,she remains asymptomatic with normal stool calprotectin while on RDLA.CONCLUSION STS and RDLA are reducing agents that serve as highly effective and safe therapy for the induction and maintenance of remission in UC,even in patients refractory or poorly controlled by conventional and advanced therapies.Should preliminary findings be validated by subsequent clinical trials,the use of reducing agents could potentially prevent thousands of colectomies and represent a paradigm shift in the treatment of UC.展开更多
BACKGROUND Edwardsiella tarda(E.tarda)belongs to the family Enterobacteriaceae and is generally seen to cause infections mainly in fish,but is also capable of infecting humans.Extraintestinal infections occur in patie...BACKGROUND Edwardsiella tarda(E.tarda)belongs to the family Enterobacteriaceae and is generally seen to cause infections mainly in fish,but is also capable of infecting humans.Extraintestinal infections occur in patients with certain risk factors,including immunocompromised status.We recently diagnosed a case of spontaneous bacterial peritonitis(SBP)due to E.tarda in an immuno-compromised dialysis patient.CASE SUMMARY Patient was a 55-year-old male,with a history of diabetic nephropathy being treated with hemodialysis three times a week.He was referred to our hospital due to an increased volume of ascites,and blood examination revealed increased inflammatory reaction.At our emergency department,he developed fever,disturbance of consciousness,abdominal distension,and abdomen-wide pain.In addition,a dialysis shunt was confirmed in his right forearm,and the shunt site showed no signs of inflammation.No wounds were confirmed on or in his body.A blood examination revealed increased values of white blood cells,C-reactive protein,and creatinine.Plain chest and abdominal computed tomography scanning revealed increased ascites volume.Abdominal paracentesis was performed and a Gram stain revealed Gramnegative bacillus.These findings prompted diagnosis of SBP.The patient was admitted and treated with cefmetazole,causing fever resolution and symptom improvements.Later,E.tarda was identified in ascites culture.The patient improved with decreased inflammatory response and was discharged on the 12th day of hospitalization.The antibiotic was terminated after 14 days of treatment.SBP in this case may have developed from chronic renal failure and diabetes mellitus.CONCLUSION We report the first known case of SBP due to E.tarda in an immuno-compromised dialysis patient.展开更多
BACKGROUND Rhabdomyosarcoma(RMS)is a type of malignant tumor originating from rhabdomyocytes or mesenchymal cells differentiating into rhabdomyocytes.Hepatic pleomorphic RMS is a rare malignant liver tumor.Hepatic sar...BACKGROUND Rhabdomyosarcoma(RMS)is a type of malignant tumor originating from rhabdomyocytes or mesenchymal cells differentiating into rhabdomyocytes.Hepatic pleomorphic RMS is a rare malignant liver tumor.Hepatic sarcomatoid carcinoma is also a rare epithelial malignant tumor originating from the liver;it is characterized by the coexistence of both carcinomatous and sarcomatoid spindle cell components.CASE SUMMARY This paper reports a special case of an elderly woman whose initial liver puncture biopsy showed pleomorphic RMS.After chemotherapy with the vincristine+doxorubicin+cyclophosphamide regimen,the alpha-fetoprotein level increased significantly.Therefore,a second liver puncture was performed,the pathological result of which was hepatic sarcomatoid carcinoma.Next-generation sequencing revealed MET gene amplification with an average copy number of 9 in the tumor tissue;however,both fluorescence in situ hybridization and immunohistochemical tests were negative for MET amplification.The treatment regimen was adjusted to chemotherapy combined with immunotherapy;however,the disease progressed rapidly,and the overall survival was only 6 months.CONCLUSION By sharing the diagnosis and treatment process of this patient and reviewing the relevant literature,we aim to help clinicians enhance their understanding of two rare diseases,namely pleomorphic RMS and sarcomatoid carcinoma of the liver.展开更多
It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and er...It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and erythropoietic protoporphyria(EPP),which has not been previously documented.CASE SUMMARY We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly.Serial nonspecific hemolysis screening tests yielded inconsistent results,and investigations for common hemolytic etiologies were negative.However,Levitt’s carbon monoxide breath test,which measures erythrocyte lifespan(the gold-standard marker of hemolysis),demonstrated significant hemolysis,revealing a markedly shortened erythrocyte lifespan of 11 days(normal average 120 days).Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl trans-ferase 1A1 gene mutation.CONCLUSION The rapid,non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.展开更多
BACKGROUND Salvage of the infected long stem revision total knee arthroplasty is challenging due to the presence of well-fixed ingrown or cemented stems.Reconstructive options are limited.Above knee amputation(AKA)is ...BACKGROUND Salvage of the infected long stem revision total knee arthroplasty is challenging due to the presence of well-fixed ingrown or cemented stems.Reconstructive options are limited.Above knee amputation(AKA)is often recommended.We present a surgical technique that was successfully used on four such patients to convert them to a knee fusion(KF)using a cephalomedullary nail.CASE SUMMARY Four patients with infected long stem revision knee replacements that refused AKA had a single stage removal of their infected revision total knee followed by a KF.They were all treated with a statically locked antegrade cephalomedullary fusion nail,augmented with antibiotic impregnated bone cement.All patients had successful limb salvage and were ambulatory with assistive devices at the time of last follow-up.All were infection free at an average follow-up of 25.5 months(range 16-31).CONCLUSION Single stage cephalomedullary nailing can result in a successful KF in patients with infected long stem revision total knees.展开更多
BACKGROUND Early renal artery thrombosis after kidney transplantation is rare but often leads to graft loss.Prompt diagnosis and intervention are essential,particularly in patients with inherited thrombophilias such a...BACKGROUND Early renal artery thrombosis after kidney transplantation is rare but often leads to graft loss.Prompt diagnosis and intervention are essential,particularly in patients with inherited thrombophilias such as factor V Leiden(FVL)mutation.CASE SUMMARY A kidney transplant recipient with FVL mutation developed an acute transplant renal artery thrombosis.The immediate post-operative Doppler ultrasonography revealed thrombosis of the main and inferior polar renal arteries.Emergent thrombectomy and separate arterial re-anastomoses were performed after cold perfusion with heparinized saline and vasodilator solution.Reperfusion was successful with immediate urine output and gradual improvement in renal function.The patient was discharged on direct oral anticoagulation therapy.CONCLUSION Early detection and surgical intervention can preserve graft function in posttransplant renal artery thrombosis even in patients at high risk.展开更多
BACKGROUND Complement-mediated thrombotic microangiopathy(TMA)is a rare endothelial injury syndrome caused by dysregulated activation of the alternative complement pathway,often linked to genetic abnormalities in comp...BACKGROUND Complement-mediated thrombotic microangiopathy(TMA)is a rare endothelial injury syndrome caused by dysregulated activation of the alternative complement pathway,often linked to genetic abnormalities in complement factor H(CFH),complement factor I,or complement factor H-related(CFHR)proteins.Both renal transplantation and pregnancy are independent triggers for recurrence.This case highlights a genetically high-risk patient who achieved a successful term pregnancy after renal transplantation without complement inhibition,emphasizing individualized risk stratification,close surveillance,and multidisciplinary management for favourable maternal and graft outcomes.CASE SUMMARY A 32-year-old woman with end-stage renal disease secondary to genetically confirmed complement-mediated TMA—homozygous CFH exon 17 deletion and CFHR3-CFHR1 duplication—was maintained on dialysis for 2.5 years before undergoing a successful live-donor kidney transplant from her mother.Post-transplant immunosuppression included tacrolimus,mycophenolate mofetil,and prednisolone,later modified to azathioprine during pregnancy planning.One-year post-transplant,she conceived spontaneously.Pregnancy was complicated by transient gestational hypertension,controlled with nifedipine,labetalol,and amlodipine.Proteinuria remained<150 mg/day;white blood cell counts 5.8-7.2×109/L without cytopenia.Serum creatinine ranged 0.9-1.1 mg/dL,and tacrolimus trough levels 5-7 ng/mL.At 36 weeks,she delivered a healthy 3 kg infant by elective caesarean section.Postpartum follow-up at three months confirmed stable maternal and graft function.CONCLUSION High-risk complement-mediated TMA patients can achieve successful pregnancy post-transplant through individualized care without mandatory complement blockade.展开更多
BACKGROUND Sorafenib has been the conventional treatment for advanced hepatocellular carcinoma(HCC)since 2008.While radiological complete responses are extremely rare,improved supportive care and multidisciplinary app...BACKGROUND Sorafenib has been the conventional treatment for advanced hepatocellular carcinoma(HCC)since 2008.While radiological complete responses are extremely rare,improved supportive care and multidisciplinary approaches in clinical practice may explain the recent increase in case reports and retrospective series documenting such responses.CASE SUMMARY This case series describes 3 patients with advanced HCC who achieved durable complete responses using first-line sorafenib therapy,even in the presence of portal vein thrombosis or extrahepatic spread,and highlights the potential for sustained remission in selected patients.Dermatologic toxicity and non-viral etiology may correlate with favorable outcomes;however,reliable predictive biomarkers for sorafenib response are lacking.CONCLUSION Future research into the etiology and molecular differences in HCC is necessary to develop more personalized therapy options.展开更多
BACKGROUND Hepatocellular carcinoma(HCC)is a major type of liver cancer worldwide.In advanced stages,portal vein tumor thrombosis(PVTT)and jaundice are common,whereas obstructive jaundice(OJ)is relatively rare.Both co...BACKGROUND Hepatocellular carcinoma(HCC)is a major type of liver cancer worldwide.In advanced stages,portal vein tumor thrombosis(PVTT)and jaundice are common,whereas obstructive jaundice(OJ)is relatively rare.Both conditions markedly reduce survival and increase therapeutic complexity.Recently,hepatic artery infusion chemotherapy(HAIC)in combination with targeted immunotherapy has shown promise for advanced HCC.CASE SUMMARY We report a 47-year-old male with advanced HCC complicated by PVTT and OJ,who was admitted with marked jaundice of the skin and sclera.Imaging revealed a large hepatic mass(14.5 cm×11.3 cm)in the right lobe with associated portal vein tumor thrombus.The tertiary bile duct was only mildly dilated,making percutaneous transhepatic cholangiography drainage infeasible.The patient underwent reduced-dose HAIC,which resulted in significant tumor shrinkage and marked reduction in serum bilirubin.This improvement enabled sequential treatment with lenvatinib and camrelizumab.After six cycles,both liver function and alphafetoprotein levels improved.The patient achieved a progression-free survival of 20 months and an overall survival of 29 months.CONCLUSION HAIC can treat high-bilirubin HCC with PVTT and OJ,allowing for subsequent targeted immunotherapy.展开更多
BACKGROUND Congenital hypothyroidism(CH)is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality.The clinical association of refractory lactic acidosis ...BACKGROUND Congenital hypothyroidism(CH)is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality.The clinical association of refractory lactic acidosis and heart failure has rarely been observed in cases of pediatric patients with CH pathology.Here,we explored the etiological relationship between CH,heart failure,and refractory lactic acidosis to reflect the importance of thyroid function screening in neonates with heart disease.CASE SUMMARY A 33-day-old extremely premature female infant presented with tachypnea,respiratory distress,recurrent infections,and abdominal distension postnatal.On admission to our facility,she had cardiomegaly,hepatomegaly,and lactic acidosis(revealed on blood gas analysis),with lactate progressively rising to 25 mmol/L.Chest radiographs showed pulmonary congestion,while echocardiography revealed cardiac enlargement,left ventricular wall thickening,and pericardial effusion.Initial management aimed at correcting acidosis and treating heart failure proved ineffective.After reassessment,thyroid function tests showed significantly decreased triiodothyronine,free triiodothyronine,thyroxine,and free thyroxine levels,with a significantly increased thyroidstimulating hormone level,confirming a CH diagnosis.Levothyroxine was administered,resulting in rapid correction of lactic acidosis and gradual improvement of thyroid function and systemic symptoms,culminating in full recovery and discharge.We also reviewed the relevant literature on thyroid and cardiac dysfunctions in order to explore their deeper association.CONCLUSION This case links CH-induced heart failure with refractory lactic acidosis,urging prompt thyroid screening in affected neonates to reduce mortality.展开更多
BACKGROUND While varices and variceal bleeds are well-known and feared complications of advanced cirrhosis and portal hypertension,omental variceal bleed are a rare sequala even in patients with known esophageal or ga...BACKGROUND While varices and variceal bleeds are well-known and feared complications of advanced cirrhosis and portal hypertension,omental variceal bleed are a rare sequala even in patients with known esophageal or gastric varices.While rare,omental varices pose a risk for hemoperitoneum if ruptured,which is a lifethreatening complication with high mortality rates despite surgical intervention.CASE SUMMARY This report reviews the case of a patient 36-year-old female with alcohol related cirrhosis decompensated by ascites,but no history of varices admitted for hemorrhagic shock from spontaneous rupture of omental varices requiring emergency surgery.She underwent the first documented successful orthotopic liver transplantation the same admission.CONCLUSION This case report and literature review stresses the importance of early consideration and identification of intraabdominal variceal sources in cirrhotic patients with refractory shock.展开更多
BACKGROUND Ankle fractures are well-documented in snow sports,but concomitant Achilles tendon and peroneal tendon ruptures are rare.This case report presents a previously unreported combination of Achilles tendon rupt...BACKGROUND Ankle fractures are well-documented in snow sports,but concomitant Achilles tendon and peroneal tendon ruptures are rare.This case report presents a previously unreported combination of Achilles tendon rupture,peroneal tendon rupture,and fibular fracture in a snowboarder,highlighting the complex nature of diagnosis,management,and rehabilitation.CASE SUMMARY A 50-year-old male snowboarder presented with severe right ankle pain following a high speed tumbling crash.Initial evaluation revealed an Achilles tendon rupture and a non-displaced distal lateral malleolus fracture.Subsequent magnetic resonance imaging confirmed complete tears of the Achilles tendon and both peroneus longus and brevis tendons,along with a Weber A lateral malleolus fracture.Surgical intervention included a 4-suture core Kraków repair of the Achilles tendon with calcaneal docking,open reduction and internal fixation of the distal fibula fracture,and primary repair of both peroneal tendons.Postoperatively,a modified Achilles repair protocol was implemented.At 16 weeks post-surgery,radiographs showed a well-healed fibular fracture,and physical examination confirmed intact Achilles and peroneal tendon repairs.By 6 months,the patient had regained full daily and work activities,including recreational pursuits.CONCLUSION This case underscores the importance of maintaining a high index of suspicion for concomitant injuries in high-energy ankle trauma during snow sports.Timely advanced imaging and a comprehensive surgical approach are crucial for optimal outcomes in such complex cases.展开更多
BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a highly aggressive tumor,and spontaneous splenic rupture(SSR)as its presenting manifestation is rarely reported among pancreatic mal...BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a highly aggressive tumor,and spontaneous splenic rupture(SSR)as its presenting manifestation is rarely reported among pancreatic malignancies.CASE SUMMARY We herein report a rare case of a 59-year-old female who presented with acute left upper quadrant abdominal pain without any history of trauma.Abdominal imaging demonstrated a heterogeneous splenic lesion with hemoperitoneum,raising clinical suspicion of SSR.Emergency laparotomy revealed a pancreatic tumor invading the spleen and left kidney,with associated splenic rupture and dense adhesions,necessitating en bloc resection of the distal pancreas,spleen,and left kidney.Histopathology revealed a biphasic malignancy composed of moderately differentiated pancreatic ductal adenocarcinoma and an undifferentiated carcinoma with rhabdoid morphology and loss of SMARCB1 expression.Immunohistochemical analysis confirmed complete loss of SMARCB1/INI1 in the undifferentiated component,along with a high Ki-67 index(approximately 80%)and CD10 positivity.The ductal adenocarcinoma component retained SMARCB1/INI1 expression and was positive for CK7 and CK-pan.Transitional zones between the two tumor components suggested progressive dedifferentiation and underlying genomic instability.The patient received adjuvant chemotherapy with gemcitabine and nab-paclitaxel and maintained a satisfactory quality of life at the 6-month follow-up.CONCLUSION This study reports a rare case of SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma of the pancreas combined with ductal adenocarcinoma,presenting as SSR-an exceptionally uncommon initial manifestation of pancreatic malignancy.展开更多
BACKGROUND With the increasing use of laparoscopic techniques in living-donor kidney transplantation,limitations in donor vessel length,particularly of the right renal vein,pose significant challenges for vascular ana...BACKGROUND With the increasing use of laparoscopic techniques in living-donor kidney transplantation,limitations in donor vessel length,particularly of the right renal vein,pose significant challenges for vascular anastomosis to the recipient’s external iliac vein.These anatomical constraints can complicate graft implantation and increase the risk of postoperative complications.CASE SUMMARY To address the issue of short right renal veins,several surgical strategies have been proposed.In this report,we describe our experience with three cases in which venous extension was successfully achieved using a venous cuff interposition technique during back-table reconstruction.This approach was used to facilitate secure vascular anastomosis and improve graft positioning in anatomically complex transplant scenarios.CONCLUSION Venous cuff interposition represents an effective technique for managing short renal veins in living-donor kidney transplantation.It provides additional length and flexibility,easing anastomotic tension and supporting successful transplantation.展开更多
文摘Viral hepatitis is an important challenge to public health worldwide.As hepatitis B is well controlled due to vaccination,the disease burden caused by the spread of hepatitis C has become increasingly prominent.Hepatitis C is an infectious disease that is mainly blood-borne.The rate of chronicity ranges from 55% to 85% after people are infected with the hepatitis C virus （HCV）.
文摘BACKGROUND Silver-Russell syndrome(SRS)is a clinically heterogeneous entity characterized by intrauterine and postnatal growth restriction,relative macrocephaly at birth,distinct facial features,and body asymmetry combined with other malformations.CASE SUMMARY Herein,we describe four individuals with SRS,focusing on their prenatal phenotype,postnatal presentation,diagnosis,and management.All cases had a typical phenotype,including postnatal growth failure,short stature(chronic malnutrition),and protruding forehead.Individually,they presented with feeding difficulties,leg length discrepancy,triangular face,or relative macrocephaly at birth,and each one exhibited distinct SRS features,including motor and/or speech delay,experiencing frequent hypoglycemic episodes.The fact that each patient exhibited a different combination of clinical findings underlines the heterogeneity of the syndrome.CONCLUSION SRS is diagnosed clinically.However,only 60%of cases are genetically confirmed,while most are sporadic.Although SRS is a well-described syndrome,a delayed diagnosis can have grave consequences on a child’s growth.Recombinant human growth hormone treatment is often initiated shortly after the diagnosis.The follow-up requires a multidisciplinary approach.
文摘BACKGROUND Gastrointestinal diseases in young children are often anatomic or inflammatory in nature and can present with symptoms similar to those of Cow’s milk protein allergy(CMPA),complicating diagnosis.This case series highlights 3 pediatric patients initially misdiagnosed with CMPA,emphasizing the need for a thorough evaluation.CASE SUMMARY Case 1:A 3-year-old child with chronic abdominal distension and constipation was initially treated for CMPA and was later diagnosed with Hirschsprung disease through rectal biopsy.Surgical intervention involved a laparoscopic colostomy followed by a pull-through procedure,leading to a successful recovery.Case 2:A 2-month-old infant presented with greenish-yellow vomiting and abdominal distension.Initially misdiagnosed with CMPA,further investigation using barium studies revealed partial intestinal malrotation.The patient underwent a laparoscopic Ladd’s procedure and recovered well.Case 3:A 6-month-old infant with persistent vomiting and failure to thrive had been treated for CMPA.Detailed imaging studies indicated achalasia.The child underwent a Heller myotomy,which resulted in significant symptom improvement and weight gain CONCLUSION Thorough evaluation of gastrointestinal symptoms is necessary in children.A high suspicion for alternative diagnoses will prevent delays in accurate diagnosis and proper treatment,leading to improved outcomes.
文摘BACKGROUND Postpancreatectomy hemorrhage is one of the most severe and life-threatening complications after pancreaticoduodenectomy.We present four cases of gastrointestinal bleeding patients to clarify its appropriate treatment and prevention.CASE SUMMARY The main symptoms included black stool,hematochezia,haematemesis,blood in the nasogastric tube,and hemorrhagic shock.The mean age was 66.25 years old and the median onset time was 340 d after the surgery.The bleeding location comprised gastrointestinal anastomosis,bile duct-jejunum anastomosis,and extraluminal bleeding.The possible causes included marginal ulcer,jejunal varix,and abdominal infection.Endoscopic hemostatic clips,as well as a covered stent using angiography,were utilized to stop the bleeding and three patients survived.Only one patient died of gastrointestinal bleeding,abdominal bleeding,abdominal infection,hypovolemic shock,and disseminated intravascular coagulation.CONCLUSION Early and effective endoscopic intervention is the key to successful hemostasis in patients with gastrointestinal bleeding after pancreatoduodenectomy.
文摘BACKGROUNDGastrointestinal neuroendocrine carcinoma (GI NEC) has a low incidence rate andpoor prognosis. Most patients already have metastatic disease when they arediagnosed. Platinum chemotherapy is the main means of treating metastatic GINECs. There is a lack of effective treatment methods after chemotherapy failure.Therefore, Therefore, selecting appropriate posterior-line treatment programs toimprove the prognosis of patients is urgently needed.CASE SUMMARYA 64-year-old female was diagnosed with stage IV NEC of the rectum due toabdominal pain and rectal bleeding. After multiline chemotherapy, the conditionprogressed, and the patient was treated with a combination of camrelizumab and surufatinib. The efficacy evaluation revealed partial remission (PR) and stable conditions, with the expression ofthe tumor marker neuron-specific enolase (NSE) returning to normal. The adverse reactions were controllable, andthe overall condition was good, with weight gain achieved in the past four years. Another 51-year-old femaleexperienced recurrence and metastasis of a duodenal NEC after surgery. After multiline chemotherapy, shereceived sintilimab combined with surufatinib. The curative effect fluctuated between PR and stability. Duringtreatment, she recovered from immune-related diabetes and later died due to deterioration of her condition.During the treatment, the patient’s NSE level returned to normal.CONCLUSIONThe combination of antiangiogenic targeted drugs and immunotherapy provides a new therapeutic approach forthe treatment of metastatic GI-NECs.
基金Supported by Shaanxi Provincial Science and Technology Development Plan Project(No.2024SFYBXM-327).
文摘Dear Editor,We report two rare cases of ocular perforating injuries caused by acupuncture needles.Both cases were approved by the Ethics Committee of Xi’an People’s Hospital(Xi’an No.4 Hospital)(KJLL-Z-K-2023060).Written informed consents were obtained from the patients.Acupuncture is an integral part of traditional Chinese medicine,and is widely used for the treatment of systemic diseases and ophthalmologic diseases^([1-8]),such as paralysis caused by stroke^([4]),diabetes^([7]),dry eye disease^([8]),pigmentary degeneration of retina,macular degeneration,glaucoma,and optic atrophy^([6]).Improper acupuncture technique can lead to accidents.
文摘BACKGROUND Ulcerative colitis(UC)is a chronic and debilitating inflammatory bowel disease.Cumulative evidence indicates that excess hydrogen peroxide,a potent neutrophilic chemotactic agent,produced by colonic epithelial cells has a causal role leading to infiltration of neutrophils into the colonic mucosa and subsequent development of UC.This evidence-based mechanism identifies hydrogen peroxide as a therapeutic target for reducing agents in the treatment of UC.CASE SUMMARY Presented is a 41-year-old female with a 26-year history of refractory UC.Having developed steroid dependence and never achieving complete remission on treatment by conventional and advanced therapies,she began treatment with oral R-dihydrolipoic acid(RDLA),a lipid-soluble reducing agent with intracellular site of action.Within a week,rectal bleeding ceased.She was asymptomatic for three years until a highly stressful experience,when she noticed blood in her stool.RDLA was discontinued,and she began treatment with oral sodium thiosulfate pentahydrate(STS),a reducing agent with extracellular site of action.After a week,rectal bleeding ceased,and she resumed oral RDLA and discontinued STS.To date,she remains asymptomatic with normal stool calprotectin while on RDLA.CONCLUSION STS and RDLA are reducing agents that serve as highly effective and safe therapy for the induction and maintenance of remission in UC,even in patients refractory or poorly controlled by conventional and advanced therapies.Should preliminary findings be validated by subsequent clinical trials,the use of reducing agents could potentially prevent thousands of colectomies and represent a paradigm shift in the treatment of UC.
文摘BACKGROUND Edwardsiella tarda(E.tarda)belongs to the family Enterobacteriaceae and is generally seen to cause infections mainly in fish,but is also capable of infecting humans.Extraintestinal infections occur in patients with certain risk factors,including immunocompromised status.We recently diagnosed a case of spontaneous bacterial peritonitis(SBP)due to E.tarda in an immuno-compromised dialysis patient.CASE SUMMARY Patient was a 55-year-old male,with a history of diabetic nephropathy being treated with hemodialysis three times a week.He was referred to our hospital due to an increased volume of ascites,and blood examination revealed increased inflammatory reaction.At our emergency department,he developed fever,disturbance of consciousness,abdominal distension,and abdomen-wide pain.In addition,a dialysis shunt was confirmed in his right forearm,and the shunt site showed no signs of inflammation.No wounds were confirmed on or in his body.A blood examination revealed increased values of white blood cells,C-reactive protein,and creatinine.Plain chest and abdominal computed tomography scanning revealed increased ascites volume.Abdominal paracentesis was performed and a Gram stain revealed Gramnegative bacillus.These findings prompted diagnosis of SBP.The patient was admitted and treated with cefmetazole,causing fever resolution and symptom improvements.Later,E.tarda was identified in ascites culture.The patient improved with decreased inflammatory response and was discharged on the 12th day of hospitalization.The antibiotic was terminated after 14 days of treatment.SBP in this case may have developed from chronic renal failure and diabetes mellitus.CONCLUSION We report the first known case of SBP due to E.tarda in an immuno-compromised dialysis patient.
基金Supported by Shaanxi Provincial Natural Science Basic Research Program,No.2020JQ-951.
文摘BACKGROUND Rhabdomyosarcoma(RMS)is a type of malignant tumor originating from rhabdomyocytes or mesenchymal cells differentiating into rhabdomyocytes.Hepatic pleomorphic RMS is a rare malignant liver tumor.Hepatic sarcomatoid carcinoma is also a rare epithelial malignant tumor originating from the liver;it is characterized by the coexistence of both carcinomatous and sarcomatoid spindle cell components.CASE SUMMARY This paper reports a special case of an elderly woman whose initial liver puncture biopsy showed pleomorphic RMS.After chemotherapy with the vincristine+doxorubicin+cyclophosphamide regimen,the alpha-fetoprotein level increased significantly.Therefore,a second liver puncture was performed,the pathological result of which was hepatic sarcomatoid carcinoma.Next-generation sequencing revealed MET gene amplification with an average copy number of 9 in the tumor tissue;however,both fluorescence in situ hybridization and immunohistochemical tests were negative for MET amplification.The treatment regimen was adjusted to chemotherapy combined with immunotherapy;however,the disease progressed rapidly,and the overall survival was only 6 months.CONCLUSION By sharing the diagnosis and treatment process of this patient and reviewing the relevant literature,we aim to help clinicians enhance their understanding of two rare diseases,namely pleomorphic RMS and sarcomatoid carcinoma of the liver.
文摘It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions.Herein,we present a rare case of coexisting Gilbert syndrome(GS)and erythropoietic protoporphyria(EPP),which has not been previously documented.CASE SUMMARY We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly.Serial nonspecific hemolysis screening tests yielded inconsistent results,and investigations for common hemolytic etiologies were negative.However,Levitt’s carbon monoxide breath test,which measures erythrocyte lifespan(the gold-standard marker of hemolysis),demonstrated significant hemolysis,revealing a markedly shortened erythrocyte lifespan of 11 days(normal average 120 days).Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl trans-ferase 1A1 gene mutation.CONCLUSION The rapid,non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.
文摘BACKGROUND Salvage of the infected long stem revision total knee arthroplasty is challenging due to the presence of well-fixed ingrown or cemented stems.Reconstructive options are limited.Above knee amputation(AKA)is often recommended.We present a surgical technique that was successfully used on four such patients to convert them to a knee fusion(KF)using a cephalomedullary nail.CASE SUMMARY Four patients with infected long stem revision knee replacements that refused AKA had a single stage removal of their infected revision total knee followed by a KF.They were all treated with a statically locked antegrade cephalomedullary fusion nail,augmented with antibiotic impregnated bone cement.All patients had successful limb salvage and were ambulatory with assistive devices at the time of last follow-up.All were infection free at an average follow-up of 25.5 months(range 16-31).CONCLUSION Single stage cephalomedullary nailing can result in a successful KF in patients with infected long stem revision total knees.
文摘BACKGROUND Early renal artery thrombosis after kidney transplantation is rare but often leads to graft loss.Prompt diagnosis and intervention are essential,particularly in patients with inherited thrombophilias such as factor V Leiden(FVL)mutation.CASE SUMMARY A kidney transplant recipient with FVL mutation developed an acute transplant renal artery thrombosis.The immediate post-operative Doppler ultrasonography revealed thrombosis of the main and inferior polar renal arteries.Emergent thrombectomy and separate arterial re-anastomoses were performed after cold perfusion with heparinized saline and vasodilator solution.Reperfusion was successful with immediate urine output and gradual improvement in renal function.The patient was discharged on direct oral anticoagulation therapy.CONCLUSION Early detection and surgical intervention can preserve graft function in posttransplant renal artery thrombosis even in patients at high risk.
文摘BACKGROUND Complement-mediated thrombotic microangiopathy(TMA)is a rare endothelial injury syndrome caused by dysregulated activation of the alternative complement pathway,often linked to genetic abnormalities in complement factor H(CFH),complement factor I,or complement factor H-related(CFHR)proteins.Both renal transplantation and pregnancy are independent triggers for recurrence.This case highlights a genetically high-risk patient who achieved a successful term pregnancy after renal transplantation without complement inhibition,emphasizing individualized risk stratification,close surveillance,and multidisciplinary management for favourable maternal and graft outcomes.CASE SUMMARY A 32-year-old woman with end-stage renal disease secondary to genetically confirmed complement-mediated TMA—homozygous CFH exon 17 deletion and CFHR3-CFHR1 duplication—was maintained on dialysis for 2.5 years before undergoing a successful live-donor kidney transplant from her mother.Post-transplant immunosuppression included tacrolimus,mycophenolate mofetil,and prednisolone,later modified to azathioprine during pregnancy planning.One-year post-transplant,she conceived spontaneously.Pregnancy was complicated by transient gestational hypertension,controlled with nifedipine,labetalol,and amlodipine.Proteinuria remained<150 mg/day;white blood cell counts 5.8-7.2×109/L without cytopenia.Serum creatinine ranged 0.9-1.1 mg/dL,and tacrolimus trough levels 5-7 ng/mL.At 36 weeks,she delivered a healthy 3 kg infant by elective caesarean section.Postpartum follow-up at three months confirmed stable maternal and graft function.CONCLUSION High-risk complement-mediated TMA patients can achieve successful pregnancy post-transplant through individualized care without mandatory complement blockade.
文摘BACKGROUND Sorafenib has been the conventional treatment for advanced hepatocellular carcinoma(HCC)since 2008.While radiological complete responses are extremely rare,improved supportive care and multidisciplinary approaches in clinical practice may explain the recent increase in case reports and retrospective series documenting such responses.CASE SUMMARY This case series describes 3 patients with advanced HCC who achieved durable complete responses using first-line sorafenib therapy,even in the presence of portal vein thrombosis or extrahepatic spread,and highlights the potential for sustained remission in selected patients.Dermatologic toxicity and non-viral etiology may correlate with favorable outcomes;however,reliable predictive biomarkers for sorafenib response are lacking.CONCLUSION Future research into the etiology and molecular differences in HCC is necessary to develop more personalized therapy options.
文摘BACKGROUND Hepatocellular carcinoma(HCC)is a major type of liver cancer worldwide.In advanced stages,portal vein tumor thrombosis(PVTT)and jaundice are common,whereas obstructive jaundice(OJ)is relatively rare.Both conditions markedly reduce survival and increase therapeutic complexity.Recently,hepatic artery infusion chemotherapy(HAIC)in combination with targeted immunotherapy has shown promise for advanced HCC.CASE SUMMARY We report a 47-year-old male with advanced HCC complicated by PVTT and OJ,who was admitted with marked jaundice of the skin and sclera.Imaging revealed a large hepatic mass(14.5 cm×11.3 cm)in the right lobe with associated portal vein tumor thrombus.The tertiary bile duct was only mildly dilated,making percutaneous transhepatic cholangiography drainage infeasible.The patient underwent reduced-dose HAIC,which resulted in significant tumor shrinkage and marked reduction in serum bilirubin.This improvement enabled sequential treatment with lenvatinib and camrelizumab.After six cycles,both liver function and alphafetoprotein levels improved.The patient achieved a progression-free survival of 20 months and an overall survival of 29 months.CONCLUSION HAIC can treat high-bilirubin HCC with PVTT and OJ,allowing for subsequent targeted immunotherapy.
文摘BACKGROUND Congenital hypothyroidism(CH)is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality.The clinical association of refractory lactic acidosis and heart failure has rarely been observed in cases of pediatric patients with CH pathology.Here,we explored the etiological relationship between CH,heart failure,and refractory lactic acidosis to reflect the importance of thyroid function screening in neonates with heart disease.CASE SUMMARY A 33-day-old extremely premature female infant presented with tachypnea,respiratory distress,recurrent infections,and abdominal distension postnatal.On admission to our facility,she had cardiomegaly,hepatomegaly,and lactic acidosis(revealed on blood gas analysis),with lactate progressively rising to 25 mmol/L.Chest radiographs showed pulmonary congestion,while echocardiography revealed cardiac enlargement,left ventricular wall thickening,and pericardial effusion.Initial management aimed at correcting acidosis and treating heart failure proved ineffective.After reassessment,thyroid function tests showed significantly decreased triiodothyronine,free triiodothyronine,thyroxine,and free thyroxine levels,with a significantly increased thyroidstimulating hormone level,confirming a CH diagnosis.Levothyroxine was administered,resulting in rapid correction of lactic acidosis and gradual improvement of thyroid function and systemic symptoms,culminating in full recovery and discharge.We also reviewed the relevant literature on thyroid and cardiac dysfunctions in order to explore their deeper association.CONCLUSION This case links CH-induced heart failure with refractory lactic acidosis,urging prompt thyroid screening in affected neonates to reduce mortality.
文摘BACKGROUND While varices and variceal bleeds are well-known and feared complications of advanced cirrhosis and portal hypertension,omental variceal bleed are a rare sequala even in patients with known esophageal or gastric varices.While rare,omental varices pose a risk for hemoperitoneum if ruptured,which is a lifethreatening complication with high mortality rates despite surgical intervention.CASE SUMMARY This report reviews the case of a patient 36-year-old female with alcohol related cirrhosis decompensated by ascites,but no history of varices admitted for hemorrhagic shock from spontaneous rupture of omental varices requiring emergency surgery.She underwent the first documented successful orthotopic liver transplantation the same admission.CONCLUSION This case report and literature review stresses the importance of early consideration and identification of intraabdominal variceal sources in cirrhotic patients with refractory shock.
文摘BACKGROUND Ankle fractures are well-documented in snow sports,but concomitant Achilles tendon and peroneal tendon ruptures are rare.This case report presents a previously unreported combination of Achilles tendon rupture,peroneal tendon rupture,and fibular fracture in a snowboarder,highlighting the complex nature of diagnosis,management,and rehabilitation.CASE SUMMARY A 50-year-old male snowboarder presented with severe right ankle pain following a high speed tumbling crash.Initial evaluation revealed an Achilles tendon rupture and a non-displaced distal lateral malleolus fracture.Subsequent magnetic resonance imaging confirmed complete tears of the Achilles tendon and both peroneus longus and brevis tendons,along with a Weber A lateral malleolus fracture.Surgical intervention included a 4-suture core Kraków repair of the Achilles tendon with calcaneal docking,open reduction and internal fixation of the distal fibula fracture,and primary repair of both peroneal tendons.Postoperatively,a modified Achilles repair protocol was implemented.At 16 weeks post-surgery,radiographs showed a well-healed fibular fracture,and physical examination confirmed intact Achilles and peroneal tendon repairs.By 6 months,the patient had regained full daily and work activities,including recreational pursuits.CONCLUSION This case underscores the importance of maintaining a high index of suspicion for concomitant injuries in high-energy ankle trauma during snow sports.Timely advanced imaging and a comprehensive surgical approach are crucial for optimal outcomes in such complex cases.
文摘BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a highly aggressive tumor,and spontaneous splenic rupture(SSR)as its presenting manifestation is rarely reported among pancreatic malignancies.CASE SUMMARY We herein report a rare case of a 59-year-old female who presented with acute left upper quadrant abdominal pain without any history of trauma.Abdominal imaging demonstrated a heterogeneous splenic lesion with hemoperitoneum,raising clinical suspicion of SSR.Emergency laparotomy revealed a pancreatic tumor invading the spleen and left kidney,with associated splenic rupture and dense adhesions,necessitating en bloc resection of the distal pancreas,spleen,and left kidney.Histopathology revealed a biphasic malignancy composed of moderately differentiated pancreatic ductal adenocarcinoma and an undifferentiated carcinoma with rhabdoid morphology and loss of SMARCB1 expression.Immunohistochemical analysis confirmed complete loss of SMARCB1/INI1 in the undifferentiated component,along with a high Ki-67 index(approximately 80%)and CD10 positivity.The ductal adenocarcinoma component retained SMARCB1/INI1 expression and was positive for CK7 and CK-pan.Transitional zones between the two tumor components suggested progressive dedifferentiation and underlying genomic instability.The patient received adjuvant chemotherapy with gemcitabine and nab-paclitaxel and maintained a satisfactory quality of life at the 6-month follow-up.CONCLUSION This study reports a rare case of SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma of the pancreas combined with ductal adenocarcinoma,presenting as SSR-an exceptionally uncommon initial manifestation of pancreatic malignancy.
文摘BACKGROUND With the increasing use of laparoscopic techniques in living-donor kidney transplantation,limitations in donor vessel length,particularly of the right renal vein,pose significant challenges for vascular anastomosis to the recipient’s external iliac vein.These anatomical constraints can complicate graft implantation and increase the risk of postoperative complications.CASE SUMMARY To address the issue of short right renal veins,several surgical strategies have been proposed.In this report,we describe our experience with three cases in which venous extension was successfully achieved using a venous cuff interposition technique during back-table reconstruction.This approach was used to facilitate secure vascular anastomosis and improve graft positioning in anatomically complex transplant scenarios.CONCLUSION Venous cuff interposition represents an effective technique for managing short renal veins in living-donor kidney transplantation.It provides additional length and flexibility,easing anastomotic tension and supporting successful transplantation.
