BACKGROUND Clear cell sarcoma(CCS)is a rare soft-tissue sarcoma.The most common metastatic sites for CCS are the lungs,bones and brain.CCS is highly invasive and mainly metastasizes to the lung,followed by the bone an...BACKGROUND Clear cell sarcoma(CCS)is a rare soft-tissue sarcoma.The most common metastatic sites for CCS are the lungs,bones and brain.CCS is highly invasive and mainly metastasizes to the lung,followed by the bone and brain;however,pancreatic metastasis is relatively rare.CASE SUMMARY We report on a rare case of CCS with pancreatic metastasis in a 47-year-old man.The patient had a relevant medical history 3 years ago,with abdominal pain as the main clinical manifestation.No abnormalities were observed on physical examination and the tumor was found on abdominal computed tomography.Based on the medical history and postoperative pathology,the patient was diagnosed with CCS with pancreatic metastasis.The patient was successfully treated with surgical interventions,including distal pancreatectomy and sple-nectomy.CONCLUSION This report summarizes the available treatment modalities for CCS and the importance of regular postoperative follow-up for patients with CCS.展开更多
AIM:To assess glaucoma patient satisfaction and follow-up adherence in case management and identify associated predictors to improve healthcare quality and patient outcomes.METHODS:In this cross-sectional study,a tota...AIM:To assess glaucoma patient satisfaction and follow-up adherence in case management and identify associated predictors to improve healthcare quality and patient outcomes.METHODS:In this cross-sectional study,a total of 119 patients completed a Patient Satisfaction Questionnaire-18 and a sociodemographic questionnaire.Clinical data was obtained from the case management system.Follow-up adherence was defined as completing each follow-up within±30d of the scheduled time set by ophthalmologists during the study period.RESULTS:Average satisfaction scored 78.65±7,with an average of 4.39±0.58 across the seven dimensions.Age negatively correlated with satisfaction(P=0.008),whilst patients with follow-up duration of 2 or more years reported higher satisfaction(P=0.045).Multivariate logistics regression analysis revealed that longer follow-up durations were associated with lower follow-up adherence(OR=0.97,95%CI,0.95-1.00,P=0.044).Additionally,patients with suspected glaucoma(OR=2.72,95%CI,1.03-7.20,P=0.044)and those with an annual income over 100000 Chinese yuan demonstrated higher adherence(OR=5.57,95%CI,1.00-30.89,P=0.049).CONCLUSION:The case management model proves effective for glaucoma patients,with positive adherence rates.The implementation of this model can be optimized in the future based on the identified factors and extended to glaucoma patients in more hospitals.展开更多
BACKGROUND Mediastinal emphysema is a condition in which air enters the mediastinum between the connective tissue spaces within the pleura for a variety of reasons.It can be spontaneous or secondary to chest trauma,es...BACKGROUND Mediastinal emphysema is a condition in which air enters the mediastinum between the connective tissue spaces within the pleura for a variety of reasons.It can be spontaneous or secondary to chest trauma,esophageal perforation,medi-cally induced factors,etc.Its common symptoms are chest pain,tightness in the chest,and respiratory distress.Most mediastinal emphysema patients have mild symptoms,but severe mediastinal emphysema can cause respiratory and circulatory failure,resulting in serious consequences.CASE SUMMARY A 75-year-old man,living alone,presented with sudden onset of severe epigastric pain with chest tightness after drinking alcohol.Due to the remoteness of his residence and lack of neighbors,the patient was found by his nephew and brought to the hospital the next morning after the disease onset.Computed tomography(CT)showed free gas in the abdominal cavity,mediastinal emph-ysema,and subcutaneous pneumothorax.Upper gastrointestinal angiography showed that the esophageal mucosa was intact and the gastric antrum was perforated.Therefore,we chose to perform open gastric perforation repair on the patient under thoracic epidural anesthesia combined with intravenous anesthesia.An operative incision of the muscle layer of the patient's abdominal wall was made,and a large amount of subperitoneal gas was revealed.And a continued incision of the peritoneum revealed the presence of a perforation of approx-imately 0.5 cm in the gastric antrum,which we repaired after pathological examination.Postoperatively,the patient received high-flow oxygen and cough exercises.Chest CT was performed on the first and sixth postoperative days,and the mediastinal and subcutaneous gas was gradually reduced.CONCLUSION After gastric perforation,a large amount of free gas in the abdominal cavity can reach the mediastinum through the loose connective tissue at the esophageal hiatus of the diaphragm,and upper gastrointestinal angiography can clarify the site of perforation.In patients with mediastinal emphysema,open surgery avoids the elevation of the diaphragm caused by pneumoperitoneum compared to laparoscopic surgery and avoids increasing the mediastinal pressure.In addition,thoracic epidural anesthesia combined with intravenous anesthesia also avoids pressure on the mediastinum from mechanical ventilation.展开更多
BACKGROUND Bezoars usually compile human fibers and debris.A special form of bezoar in case of psychologically altered individuals is the trichobezoar.It consists of voluntarily swallowed hair bulks and is normally re...BACKGROUND Bezoars usually compile human fibers and debris.A special form of bezoar in case of psychologically altered individuals is the trichobezoar.It consists of voluntarily swallowed hair bulks and is normally removed via gastroscopy.Trichobezoars leading to ileus have rarely been reported.CASE SUMMARY A 24-year-old female patient presented to the emergency room with abdominal pain,nausea,and vomiting for 3 d.Her previous medical and psychiatric history was unremarkable.Laboratory analysis showed iron deficiency anemia,leukocytosis,and elevated liver enzymes.An abdominal CT scan revealed a dense structure in the patients’stomach which turned out to be a huge trichobezoar completely obstructing the pylorus.The trichobezoar had to be removed surgi-cally.During her postoperative course,a subcutaneous seroma formed.After a single puncture,the rest of the recovery process was unremarkable,and the patient recovered fully.CONCLUSION A mechanical bowel obstruction is a potentially life-threatening event for every patient.In our case a young female was suffering from severe symptoms of an obstruction which might have resulted in serious harm without successful surgical management.展开更多
BACKGROUND Microwave endometrial ablation(MEA)is a minimally invasive treatment method for heavy menstrual bleeding.However,additional treatment is often required after recurrence of uterine myomas treated with MEA.Ad...BACKGROUND Microwave endometrial ablation(MEA)is a minimally invasive treatment method for heavy menstrual bleeding.However,additional treatment is often required after recurrence of uterine myomas treated with MEA.Additionally,because this treatment ablates the endometrium,it is not indicated for patients planning to become pregnant.To overcome these issues,we devised a method for ultrasound-guided microwave ablation of uterine myoma feeder vessels.We report three patients successfully treated for heavy menstrual bleeding,secondary to uterine myoma,using our novel method.CASE SUMMARY All patients had a favorable postoperative course,were discharged within 4 h,and experienced no complications.Further,no postoperative recurrence of heavy menstrual bleeding was noted.Our method also reduced the myoma’s maximum diameter.CONCLUSION This method does not ablate the endometrium,suggesting its potential appli-cation in patients planning to become pregnant.展开更多
BACKGROUND Mycobacterium tuberculosis(TB)is the causative agent of TB,a chronic granulo-matous illness.This disease is prevalent in low-income countries,posing a significant global health challenge.Gastrointestinal TB...BACKGROUND Mycobacterium tuberculosis(TB)is the causative agent of TB,a chronic granulo-matous illness.This disease is prevalent in low-income countries,posing a significant global health challenge.Gastrointestinal TB is one of the three forms.The disease can mimic other intra-abdominal conditions,leading to delayed diagnosis owing to the absence of specific symptoms.While gastric outlet obs-truction(GOO)remains a frequent complication,its incidence has declined with the advent of proton pump inhibitors and Helicobacter pylori eradication therapy.Gastroduodenal TB can cause upper gastrointestinal hemorrhage,obstruction,and malignancy-like tumors.CASE SUMMARY A 23-year-old male presented with recurrent epigastric pain,distension,nausea,vomiting,and weight loss,prompting a referral to a gastroenterologist clinic.Endoscopic examination revealed distorted gastric mucosa and signs of chronic inflammation.However,treatment was interrupted,possibly owing to vomiting or comorbidities such as human immunodeficiency virus infection or diabetes.Subsequent surgical intervention revealed a dilated stomach and diffuse thickening of the duodenal wall.Resection revealed gastric wall effacement with TB.CONCLUSION Primary gastric TB is rare,frequently leading to GOO.Given its rarity,suspicions should be promptly raised when encountering relevant symptoms,often requiring surgical intervention for diagnosis and treatment.展开更多
BACKGROUND High-grade pancreatic intraepithelial neoplasia(PanIN)exhibits no mass and is not detected by any examination modalities.However,it can be diagnosed by pancreatic juice cytology from indirect findings.Most ...BACKGROUND High-grade pancreatic intraepithelial neoplasia(PanIN)exhibits no mass and is not detected by any examination modalities.However,it can be diagnosed by pancreatic juice cytology from indirect findings.Most previous cases were diagnosed based on findings of a focal stricture of the main pancreatic duct(MPD)and caudal MPD dilatation and subsequent pancreatic juice cytology using endoscopic retrograde cholangiopancreatography(ERCP).We experienced a case of high-grade PanIN with an unclear MPD over a 20-mm range,but without caudal MPD dilatation on magnetic resonance cholangiopancreatography(MRCP).CASE SUMMARY A 60-year-old female patient underwent computed tomography for a follow-up of uterine cancer post-excision,which revealed pancreatic cysts.MRCP revealed an unclear MPD of the pancreatic body at a 20-mm length without caudal MPD dilatation.Thus,course observation was performed.After 24 mo,MRCP revealed an increased caudal MPD caliber and a larger pancreatic cyst.We performed ERCP and detected atypical cells suspected of adenocarcinoma by serial pancreatic juice aspiration cytology examination.We performed a distal pancreatectomy and obtained a histopathological diagnosis of high-grade PanIN.Pancreatic parenchyma invasion was not observed,and curative resection was achieved.CONCLUSION High-grade Pan-IN may cause MPD narrowing in a long range without caudal MPD dilatation.展开更多
BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultraso...BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultrasound-guided Lateral recess block(LRB)are limited,this is probably because there is no recognized standard method for ultrasound scanning.This study aimed to evaluate the effect of ultrasound-guided LRB in patients with lateral recess stenosis(LRS).CASE SUMMARY A 65-year-old patient complained of low back pain accompanied occasionally by pain and numbness in the left lower limb.Physical examination showed ten-derness on the spinous process and paraspinal muscles from L1 to S1,extensor hallucis longus and tibialis anterior weakness(muscle strength:4-),and a positive straight leg raising test in the left lower limb(60°).Magnetic resonance imaging showed L4–L5 disc degeneration with left LRS and nerve root entrapment.Subsequently,the patient was diagnosed with LRS.This patient was treated with a novel ultrasound-guided LRB approach.The patient’s symptoms significantly improved without any complications at 1 wk postoperatively and at the 3-month follow-up.CONCLUSION This is the first report on the LRS treatment with ultrasound-guided LRB from the contralateral spinous process along the inner side of the articular process by out-plane technique.Further studies are expected to investigate the efficacy and safety of ultrasound-guided LRB for patients with LRS.展开更多
BACKGROUND The relation between orthodontic treatment and temporomandibular disorders(TMDs)is under debate;the management of TMD during orthodontic treatment has always been a challenge.If TMD symptoms occur during or...BACKGROUND The relation between orthodontic treatment and temporomandibular disorders(TMDs)is under debate;the management of TMD during orthodontic treatment has always been a challenge.If TMD symptoms occur during orthodontic treatment,an immediate pause of orthodontic adjustments is recommended;the treatment can resume when the symptoms are managed and stabilized.CASE SUMMARY This case report presents a patient(26-year-old,female)with angle class I,skeletal class II and TMDs.The treatment was a hybrid of clear aligners,fixed appliances and temporary anchorage devices(TADs).After 3 mo resting and treatment on her TMD,the patient’s TMD symptom alleviated,but her anterior occlusion displayed deep overbite.Therefore,the fixed appliances with TAD were used to correct the anterior deep-bite and level maxillary and mandibular deep curves.After the levelling,the patient showed dual bite with centric relation and maximum intercuspation discrepancy on her occlusion.After careful examination of temporomandibular joints(TMJ)position,the stable bite splint and Invisible Mandibular Advancement appliance were used to reconstruct her occlusion.Eventually,the improved facial appearance and relatively stable occlusion were achieved.The 1-year follow-up records showed there was no obvious change in TMJ morphology,and her occlusion was stable.CONCLUSION TMD screening and monitoring is of great clinical importance in the TMD susceptible patients.Hybrid treatment with clear aligners and fixed appliances and TADs is an effective treatment modality for the complex cases.展开更多
Case reports,often overlooked in evidence-based medicine(EBM),play a pivotal role in healthcare research.They provide unique insights into rare conditions,novel treatments,and adverse effects,serving as valuable educa...Case reports,often overlooked in evidence-based medicine(EBM),play a pivotal role in healthcare research.They provide unique insights into rare conditions,novel treatments,and adverse effects,serving as valuable educational tools and generating new hypothesis.Despite their limitations in generalizability,case reports contribute significantly to evidence-based practice by offering detailed clinical information and fostering critical thinking among healthcare professionals.By acknowledging their limitations and adhering to reporting guidelines,case reports can contribute significantly to medical knowledge and patient care within the evolving landscape of EBM.This editorial explores the intrinsic value of case reports in EBM and patient care.展开更多
Evidence-based practice(EBP)has been the gold standard in healthcare for nearly three centuries and aims to assist physicians in providing the safest and most effective healthcare for their patients.The well-establish...Evidence-based practice(EBP)has been the gold standard in healthcare for nearly three centuries and aims to assist physicians in providing the safest and most effective healthcare for their patients.The well-established hierarchy of evidence lists systematic reviews and meta-analyses at the top however these methodologies are not always appropriate or possible and in these instances case-control studies,case series and case reports are utilised to support EBP.Case-control studies allow simultaneous study of multiple risk factors and can be performed rapidly and relatively cheaply.A recent example was during the Coronavirus pandemic where case-control studies were used to assess the efficacy of personal protective equipment for healthcare workers.Case series and case reports also play a role in EBP and are particularly useful to study rare diseases such as inflammatory bowel disease in transgender and gender non-conforming individuals.They are also vital in generating and disseminating early signals and encouraging further research.Whilst these methodologies have weaknesses,particularly with regards to bias and loss of patient confidentiality for rare pathologies,they have an important part to play in EBP and when appropriately utilised can significantly impact upon clinical practice.展开更多
Introduction: Osteosarcoma is the most common primary malignant bone tumor in children. It is highly aggressive and has a poor prognosis. A late presentation modifies and makes difficult the management affecting the s...Introduction: Osteosarcoma is the most common primary malignant bone tumor in children. It is highly aggressive and has a poor prognosis. A late presentation modifies and makes difficult the management affecting the survival of children. We report the case of a large conventional osteosarcoma in a 13-year-old girl. Case Presentation: Adolescent girl admitted for painful swelling of the left shoulder with absolute functional impotence of the thoracic limb and severe anemia. The painful swelling was thought to have been caused by a minor trauma that had occurred six months previously. The patient’s general condition was poor, and she presented with a large, shiny, painful mass over the shoulder and upper 2/3 of the left arm, measuring 28 cm long by 28 cm wide and 57 cm in circumference, and a large fistulous axillary adenopathy. CT scan showed a tumour lesion of the left humerus with liver and lung metastases, raising suspicion of osteogenic osteosarcoma. The tumor was classified according to TNM staging: T2N1M1(a + b). Management was modified when uncontrolled bleeding developed. It consisted of an extended amputation of the left thoracic limb. Pathological analysis showed a high-grade conventional osteosarcoma. Quality improvement was obtained for thirty days, followed by the onset of dyspnea. The evolution was towards death at forty days post-operatively. Conclusion: Osteosarcoma is a highly aggressive cancer. Delayed treatment leads to a fatal outcome. Early diagnosis is one of the challenges to be met in order to improve survival.展开更多
Introduction: Traumatic diaphragmatic hernia is a rare condition in children complicating closed or penetrating trauma to the abdomen and thorax. We report the case of an 11-year-old girl with a traumatic diaphragmati...Introduction: Traumatic diaphragmatic hernia is a rare condition in children complicating closed or penetrating trauma to the abdomen and thorax. We report the case of an 11-year-old girl with a traumatic diaphragmatic hernia. Case Presentation: An 11-year-old girl was seen in the paediatric surgery department for a thoracolumbar spine deformity and intermittent chest pain. These symptoms occurred after a domestic accident involving a fall from a low wall onto the thoracolumbar spine 5 months previously. The diagnosis was suggested by the presence of a left hemithoracic hydroaera and confirmed by a thoraco-abdominal CT scan. Surgical exploration revealed a linear rupture of the entire left hemi-diaphragm with herniation of the stomach, small intestine, cecum, transverse colon and omentum. We performed a double-layer suture of the diaphragmatic rupture with a non-absorbable suture without edge rejuvenation after the reduction of the hernia. The outcome was favourable with normal postoperative radiographs at one year follow-up. Conclusion: Traumatic diaphragmatic hernia, although uncommon and difficult to diagnose, is a condition that is relatively easy to manage surgically, even if it is discovered late. In all cases of trauma to the thoracolumbar spine, regular follow-up and repeat X-rays are necessary if pain persists.展开更多
Introduction: Intestinal obstruction is a common cause of abdominal surgery in the neonate. Diagnosis is straightforward using standard radiology, and surgical technique depends on the underlying anatomical lesion. Pe...Introduction: Intestinal obstruction is a common cause of abdominal surgery in the neonate. Diagnosis is straightforward using standard radiology, and surgical technique depends on the underlying anatomical lesion. Peritoneal dialysis (PD) is an effective, albeit invasive, therapy for neonatal renal failure. We report a case of neonatal obstruction with severe renal failure treated by PD to highlight our hospital practice and possible remedies in a context of limited resources. Case Presentation: This was a female neonate of moderate prematurity admitted on day 4 of life for management of a flat neonatal obstruction. Radiological diagnosis suggested small bowel atresia. Biological tests revealed severe renal failure with creatinine levels of 416 micromoles per liter and blood urea of 27.1 micromoles per liter. Management consisted of preoperative peritoneal dialysis for 48 hours followed by laparotomy. The intraoperative diagnosis was GROSFELD type IIIa digestive atresia. The postoperative course was favourable, transit was resumed on day 5 and the patient returned home on day 12. Progress at 3 months was satisfactory. Conclusion: Neonatal intestinal obstruction with renal failure in premature infants is associated with a poor prognosis, even more so if there is a delay in treatment. Peritoneal dialysis seems to be a suitable alternative for this management in our working conditions with limited resources.展开更多
Edge devices,due to their limited computational and storage resources,often require the use of compilers for program optimization.Therefore,ensuring the security and reliability of these compilers is of paramount impo...Edge devices,due to their limited computational and storage resources,often require the use of compilers for program optimization.Therefore,ensuring the security and reliability of these compilers is of paramount importance in the emerging field of edge AI.One widely used testing method for this purpose is fuzz testing,which detects bugs by inputting random test cases into the target program.However,this process consumes significant time and resources.To improve the efficiency of compiler fuzz testing,it is common practice to utilize test case prioritization techniques.Some researchers use machine learning to predict the code coverage of test cases,aiming to maximize the test capability for the target compiler by increasing the overall predicted coverage of the test cases.Nevertheless,these methods can only forecast the code coverage of the compiler at a specific optimization level,potentially missing many optimization-related bugs.In this paper,we introduce C-CORE(short for Clustering by Code Representation),the first framework to prioritize test cases according to their code representations,which are derived directly from the source codes.This approach avoids being limited to specific compiler states and extends to a broader range of compiler bugs.Specifically,we first train a scaled pre-trained programming language model to capture as many common features as possible from the test cases generated by a fuzzer.Using this pre-trained model,we then train two downstream models:one for predicting the likelihood of triggering a bug and another for identifying code representations associated with bugs.Subsequently,we cluster the test cases according to their code representations and select the highest-scoring test case from each cluster as the high-quality test case.This reduction in redundant testing cases leads to time savings.Comprehensive evaluation results reveal that code representations are better at distinguishing test capabilities,and C-CORE significantly enhances testing efficiency.Across four datasets,C-CORE increases the average of the percentage of faults detected(APFD)value by 0.16 to 0.31 and reduces test time by over 50% in 46% of cases.When compared to the best results from approaches using predicted code coverage,C-CORE improves the APFD value by 1.1% to 12.3% and achieves an overall time-saving of 159.1%.展开更多
BACKGROUND The incidence of monodermal teratomas of the reproductive system is low,and most doctors lack adequate understanding,which can easily lead to missed diagnoses and/or misdiagnosis.Therefore,it is important t...BACKGROUND The incidence of monodermal teratomas of the reproductive system is low,and most doctors lack adequate understanding,which can easily lead to missed diagnoses and/or misdiagnosis.Therefore,it is important to fully understand the clinical characteristics,diagnosis,differential diagnosis,and treatment of monodermal teratomas of the reproductive system.CASE SUMMARY Case 1:A 14-year-old boy was admitted to the hospital with a right testicular mass for 1 wk and underwent surgical resection.He was finally diagnosed with right testicular monodermal teratoma with no special postoperative discomfort.Case 2:A 40-year-old woman was admitted to the hospital for uterine abnormalities indicated by ultrasound 20 d prior and underwent laparoscopic surgery.She was finally diagnosed with a left ovarian monodermal teratoma with a satisfactory postoperative quality of life.Case 3:A 49-year-old woman was admitted to the hospital with a pelvic mass that was discovered on B-ultrasound a week prior and underwent laparoscopic resection of the left adnexa.She was finally diagnosed with left ovarian monodermal teratoma,and her postoperative quality of life was satisfactory.CONCLUSION Monodermal teratoma is a rare tumor whose clinical manifestations are primarily benign.Simple surgical resection of the tumor is effective.展开更多
BACKGROUND Gigantic epidermal cysts(GECs)are rare benign skin appendicular tumours also known as keratinocysts.GECs have a high incidence and their wall is made up of epidermis.Epidermal cysts can occur in any part of...BACKGROUND Gigantic epidermal cysts(GECs)are rare benign skin appendicular tumours also known as keratinocysts.GECs have a high incidence and their wall is made up of epidermis.Epidermal cysts can occur in any part of the skin;clinical manifestations include skin colour hemispherical swelling;cystic;mobile;0.5 cm to several centimetres in diameter;and slow growth.CASE SUMMARY Herein,we report a case involving a 56-year-old female with a GEC in the occipitalia.On July 25,2023,a patient with a GEC was admitted to the neurosurgery Department of the Second Affiliated Hospital of Xi'an Medical University.The phyma was shown to be a solid mass during the operation and was confirmed to be a GEC based on pathological examination.CONCLUSION Epidermal cysts are common cystic nodules on the surface of the body,the aetiology is unclear,the clinical manifestations can vary,and the misdiagnosis rate is high.However,giant epidermal cysts are rare.In most cases,however,the prognosis is satisfactory.This paper analyses and summarizes the population,location,clinical and pathological characteristics and pathogenesis of the disease to strengthen the understanding of this disease and improve the accuracy of clinical diagnosis.展开更多
BACKGROUND Macrodactyly is a rare congenital malformation characterized by an increase in the size of all structures of a digit,accounting for less than 1%of all congenital upper extremity conditions.CASE SUMMARY We r...BACKGROUND Macrodactyly is a rare congenital malformation characterized by an increase in the size of all structures of a digit,accounting for less than 1%of all congenital upper extremity conditions.CASE SUMMARY We report a case involving a 49-year-old woman who presented for the first time with untreated,radial-sided hand macrodactyly.We performed soft tissue debulking,amputation,median nerve neurotomy and coaptation,and carpal tunnel release.At the 6-year follow-up,no significant growth was observed in the bone or soft tissue of the affected area.CONCLUSION Tissue overgrowth in patients with progressive macrodactyly can continue and progress excessively with age.Median nerve neurotomy and coaptation play a crucial role in preventing recurrence of the deformity.展开更多
BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.Th...BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.The child’s needle EMG unveiled trains of myotonic discharges with notably giant amplitudes,alongside irregular wave trains of myotonic discharges.This distinctive observation had not surfaced in earlier studies.CASE SUMMARY We report the case of a 3-year-old female child with PMC,who exhibited la-ryngeal stridor,muffled speech,myotonia from birth.Cold,exposure to cool water,crying,and physical activity exacerbated the myotonia,which was relieved in warmth,yet never normalized.Percussion myotonia was observable in bilateral biceps.Myotonia symptoms remained unchanged after potassium-rich food consumption like bananas.Hyperkalemic periodic paralysis was excluded.Cranial magnetic resonance imaging yielded normal results.Blood potassium remained within normal range,while creatine kinase showed slight elevation.Exome-wide genetic testing pinpointed a heterozygous mutation on chromosome SCN4A:c.3917G>A(p.G1306E).After a six-month mexiletine regimen,symptoms alleviated.CONCLUSION In this case revealed the two types of myotonic discharges,and had not been documented in other studies.We underscore two distinctive features:Giant-amplitude potentials and irregular waves.展开更多
BACKGROUND Hepatocellular carcinoma(HCC)is a primary liver tumor generally diagnosed based on radiographic findings.Metastatic disease is typically associated with increased tumor diameter,multifocality,and vascular i...BACKGROUND Hepatocellular carcinoma(HCC)is a primary liver tumor generally diagnosed based on radiographic findings.Metastatic disease is typically associated with increased tumor diameter,multifocality,and vascular invasion.We report a case of a patient who presented with extrahepatic HCC metastasis to a portocaval lymph node with occult hepatic primary on computed tomography(CT).We review the literature for cases of extrahepatic HCC presentation without known hepatic lesions and discuss strategies to differentiate between metastatic and ectopic HCC.CASE SUMMARY A 67-year-old male with remotely treated hepatis C was referred for evaluation of an enlarging portocaval,mixed cystic-solid mass.Serial CT evaluations demonstrated steatosis,but no cirrhosis or liver lesions.Endoscopic ultrasound demonstrated a normal-appearing pancreas,biliary tree,and liver.Fine needle aspiration yielded atypical cells.The differential diagnosis included duodenal or pancreatic cyst,lymphoproliferative cyst,stromal or mesenchymal lesions,nodal involvement from gastrointestinal or hematologic malignancy,or duodenal gastrointestinal stromal tumor.After review by a multidisciplinary tumor board,the patient underwent open surgical resection of a 5.2 cm×5.5 cm retroperitoneal mass with pathology consistent with moderately-differentiated HCC.Magnetic resonance imaging(MRI)subsequently demonstrated a 1.2 cm segment VIII hepatic lesion with late arterial enhancement,fatty sparing,and intrinsic T1 hyperintensity.Alpha fetoprotein was 23.3 ng/mL.The patient was diagnosed with HCC with portocaval nodal involvement.Review:We surveyed the literature for HCC presenting as extrahepatic masses without history of concurrent or prior intrahepatic HCC.We identified 18 cases of extrahepatic HCC ultimately found to represent metastatic lesions,and 30 cases of extrahepatic HCC found to be primary,ectopic HCC.CONCLUSION Hepatocellular carcinoma can seldomly present with extrahepatic metastasis in the setting of occult primary.In patients with risk factors for HCC and lesions suspicious for metastatic disease,MRI may be integral to identifying small hepatic lesions and differentiating from ectopic HCC.Tumor markers may also have utility in establishing the diagnosis.展开更多
文摘BACKGROUND Clear cell sarcoma(CCS)is a rare soft-tissue sarcoma.The most common metastatic sites for CCS are the lungs,bones and brain.CCS is highly invasive and mainly metastasizes to the lung,followed by the bone and brain;however,pancreatic metastasis is relatively rare.CASE SUMMARY We report on a rare case of CCS with pancreatic metastasis in a 47-year-old man.The patient had a relevant medical history 3 years ago,with abdominal pain as the main clinical manifestation.No abnormalities were observed on physical examination and the tumor was found on abdominal computed tomography.Based on the medical history and postoperative pathology,the patient was diagnosed with CCS with pancreatic metastasis.The patient was successfully treated with surgical interventions,including distal pancreatectomy and sple-nectomy.CONCLUSION This report summarizes the available treatment modalities for CCS and the importance of regular postoperative follow-up for patients with CCS.
基金Supported by the Key Innovation and Guidance Program of the Eye Hospital,School of Ophthalmology&Optometry,Wenzhou Medical University(No.YNZD2201903)the Scientific Research Foundation of the Eye Hospital,School of Ophthalmology&Optometry,Wenzhou Medical University(No.KYQD20180306)the Nursing Project of the Eye Hospital of Wenzhou Medical University(No.YNHL2201908).
文摘AIM:To assess glaucoma patient satisfaction and follow-up adherence in case management and identify associated predictors to improve healthcare quality and patient outcomes.METHODS:In this cross-sectional study,a total of 119 patients completed a Patient Satisfaction Questionnaire-18 and a sociodemographic questionnaire.Clinical data was obtained from the case management system.Follow-up adherence was defined as completing each follow-up within±30d of the scheduled time set by ophthalmologists during the study period.RESULTS:Average satisfaction scored 78.65±7,with an average of 4.39±0.58 across the seven dimensions.Age negatively correlated with satisfaction(P=0.008),whilst patients with follow-up duration of 2 or more years reported higher satisfaction(P=0.045).Multivariate logistics regression analysis revealed that longer follow-up durations were associated with lower follow-up adherence(OR=0.97,95%CI,0.95-1.00,P=0.044).Additionally,patients with suspected glaucoma(OR=2.72,95%CI,1.03-7.20,P=0.044)and those with an annual income over 100000 Chinese yuan demonstrated higher adherence(OR=5.57,95%CI,1.00-30.89,P=0.049).CONCLUSION:The case management model proves effective for glaucoma patients,with positive adherence rates.The implementation of this model can be optimized in the future based on the identified factors and extended to glaucoma patients in more hospitals.
文摘BACKGROUND Mediastinal emphysema is a condition in which air enters the mediastinum between the connective tissue spaces within the pleura for a variety of reasons.It can be spontaneous or secondary to chest trauma,esophageal perforation,medi-cally induced factors,etc.Its common symptoms are chest pain,tightness in the chest,and respiratory distress.Most mediastinal emphysema patients have mild symptoms,but severe mediastinal emphysema can cause respiratory and circulatory failure,resulting in serious consequences.CASE SUMMARY A 75-year-old man,living alone,presented with sudden onset of severe epigastric pain with chest tightness after drinking alcohol.Due to the remoteness of his residence and lack of neighbors,the patient was found by his nephew and brought to the hospital the next morning after the disease onset.Computed tomography(CT)showed free gas in the abdominal cavity,mediastinal emph-ysema,and subcutaneous pneumothorax.Upper gastrointestinal angiography showed that the esophageal mucosa was intact and the gastric antrum was perforated.Therefore,we chose to perform open gastric perforation repair on the patient under thoracic epidural anesthesia combined with intravenous anesthesia.An operative incision of the muscle layer of the patient's abdominal wall was made,and a large amount of subperitoneal gas was revealed.And a continued incision of the peritoneum revealed the presence of a perforation of approx-imately 0.5 cm in the gastric antrum,which we repaired after pathological examination.Postoperatively,the patient received high-flow oxygen and cough exercises.Chest CT was performed on the first and sixth postoperative days,and the mediastinal and subcutaneous gas was gradually reduced.CONCLUSION After gastric perforation,a large amount of free gas in the abdominal cavity can reach the mediastinum through the loose connective tissue at the esophageal hiatus of the diaphragm,and upper gastrointestinal angiography can clarify the site of perforation.In patients with mediastinal emphysema,open surgery avoids the elevation of the diaphragm caused by pneumoperitoneum compared to laparoscopic surgery and avoids increasing the mediastinal pressure.In addition,thoracic epidural anesthesia combined with intravenous anesthesia also avoids pressure on the mediastinum from mechanical ventilation.
文摘BACKGROUND Bezoars usually compile human fibers and debris.A special form of bezoar in case of psychologically altered individuals is the trichobezoar.It consists of voluntarily swallowed hair bulks and is normally removed via gastroscopy.Trichobezoars leading to ileus have rarely been reported.CASE SUMMARY A 24-year-old female patient presented to the emergency room with abdominal pain,nausea,and vomiting for 3 d.Her previous medical and psychiatric history was unremarkable.Laboratory analysis showed iron deficiency anemia,leukocytosis,and elevated liver enzymes.An abdominal CT scan revealed a dense structure in the patients’stomach which turned out to be a huge trichobezoar completely obstructing the pylorus.The trichobezoar had to be removed surgi-cally.During her postoperative course,a subcutaneous seroma formed.After a single puncture,the rest of the recovery process was unremarkable,and the patient recovered fully.CONCLUSION A mechanical bowel obstruction is a potentially life-threatening event for every patient.In our case a young female was suffering from severe symptoms of an obstruction which might have resulted in serious harm without successful surgical management.
文摘BACKGROUND Microwave endometrial ablation(MEA)is a minimally invasive treatment method for heavy menstrual bleeding.However,additional treatment is often required after recurrence of uterine myomas treated with MEA.Additionally,because this treatment ablates the endometrium,it is not indicated for patients planning to become pregnant.To overcome these issues,we devised a method for ultrasound-guided microwave ablation of uterine myoma feeder vessels.We report three patients successfully treated for heavy menstrual bleeding,secondary to uterine myoma,using our novel method.CASE SUMMARY All patients had a favorable postoperative course,were discharged within 4 h,and experienced no complications.Further,no postoperative recurrence of heavy menstrual bleeding was noted.Our method also reduced the myoma’s maximum diameter.CONCLUSION This method does not ablate the endometrium,suggesting its potential appli-cation in patients planning to become pregnant.
文摘BACKGROUND Mycobacterium tuberculosis(TB)is the causative agent of TB,a chronic granulo-matous illness.This disease is prevalent in low-income countries,posing a significant global health challenge.Gastrointestinal TB is one of the three forms.The disease can mimic other intra-abdominal conditions,leading to delayed diagnosis owing to the absence of specific symptoms.While gastric outlet obs-truction(GOO)remains a frequent complication,its incidence has declined with the advent of proton pump inhibitors and Helicobacter pylori eradication therapy.Gastroduodenal TB can cause upper gastrointestinal hemorrhage,obstruction,and malignancy-like tumors.CASE SUMMARY A 23-year-old male presented with recurrent epigastric pain,distension,nausea,vomiting,and weight loss,prompting a referral to a gastroenterologist clinic.Endoscopic examination revealed distorted gastric mucosa and signs of chronic inflammation.However,treatment was interrupted,possibly owing to vomiting or comorbidities such as human immunodeficiency virus infection or diabetes.Subsequent surgical intervention revealed a dilated stomach and diffuse thickening of the duodenal wall.Resection revealed gastric wall effacement with TB.CONCLUSION Primary gastric TB is rare,frequently leading to GOO.Given its rarity,suspicions should be promptly raised when encountering relevant symptoms,often requiring surgical intervention for diagnosis and treatment.
文摘BACKGROUND High-grade pancreatic intraepithelial neoplasia(PanIN)exhibits no mass and is not detected by any examination modalities.However,it can be diagnosed by pancreatic juice cytology from indirect findings.Most previous cases were diagnosed based on findings of a focal stricture of the main pancreatic duct(MPD)and caudal MPD dilatation and subsequent pancreatic juice cytology using endoscopic retrograde cholangiopancreatography(ERCP).We experienced a case of high-grade PanIN with an unclear MPD over a 20-mm range,but without caudal MPD dilatation on magnetic resonance cholangiopancreatography(MRCP).CASE SUMMARY A 60-year-old female patient underwent computed tomography for a follow-up of uterine cancer post-excision,which revealed pancreatic cysts.MRCP revealed an unclear MPD of the pancreatic body at a 20-mm length without caudal MPD dilatation.Thus,course observation was performed.After 24 mo,MRCP revealed an increased caudal MPD caliber and a larger pancreatic cyst.We performed ERCP and detected atypical cells suspected of adenocarcinoma by serial pancreatic juice aspiration cytology examination.We performed a distal pancreatectomy and obtained a histopathological diagnosis of high-grade PanIN.Pancreatic parenchyma invasion was not observed,and curative resection was achieved.CONCLUSION High-grade Pan-IN may cause MPD narrowing in a long range without caudal MPD dilatation.
基金Supported by the National Natural Science Foundation of China,No.82305380The Postdoctoral Research Program,West China Hospital,Sichuan University,No.2020HXBH018.
文摘BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultrasound-guided Lateral recess block(LRB)are limited,this is probably because there is no recognized standard method for ultrasound scanning.This study aimed to evaluate the effect of ultrasound-guided LRB in patients with lateral recess stenosis(LRS).CASE SUMMARY A 65-year-old patient complained of low back pain accompanied occasionally by pain and numbness in the left lower limb.Physical examination showed ten-derness on the spinous process and paraspinal muscles from L1 to S1,extensor hallucis longus and tibialis anterior weakness(muscle strength:4-),and a positive straight leg raising test in the left lower limb(60°).Magnetic resonance imaging showed L4–L5 disc degeneration with left LRS and nerve root entrapment.Subsequently,the patient was diagnosed with LRS.This patient was treated with a novel ultrasound-guided LRB approach.The patient’s symptoms significantly improved without any complications at 1 wk postoperatively and at the 3-month follow-up.CONCLUSION This is the first report on the LRS treatment with ultrasound-guided LRB from the contralateral spinous process along the inner side of the articular process by out-plane technique.Further studies are expected to investigate the efficacy and safety of ultrasound-guided LRB for patients with LRS.
基金Natural Science Foundation of Jiangsu Province, No. SBK2021021787the Major Project of the Health Commission ofJiangsu Province, No. ZD2022025and the Key Project of the Nanjing Health Commission, No. ZKX20048.
文摘BACKGROUND The relation between orthodontic treatment and temporomandibular disorders(TMDs)is under debate;the management of TMD during orthodontic treatment has always been a challenge.If TMD symptoms occur during orthodontic treatment,an immediate pause of orthodontic adjustments is recommended;the treatment can resume when the symptoms are managed and stabilized.CASE SUMMARY This case report presents a patient(26-year-old,female)with angle class I,skeletal class II and TMDs.The treatment was a hybrid of clear aligners,fixed appliances and temporary anchorage devices(TADs).After 3 mo resting and treatment on her TMD,the patient’s TMD symptom alleviated,but her anterior occlusion displayed deep overbite.Therefore,the fixed appliances with TAD were used to correct the anterior deep-bite and level maxillary and mandibular deep curves.After the levelling,the patient showed dual bite with centric relation and maximum intercuspation discrepancy on her occlusion.After careful examination of temporomandibular joints(TMJ)position,the stable bite splint and Invisible Mandibular Advancement appliance were used to reconstruct her occlusion.Eventually,the improved facial appearance and relatively stable occlusion were achieved.The 1-year follow-up records showed there was no obvious change in TMJ morphology,and her occlusion was stable.CONCLUSION TMD screening and monitoring is of great clinical importance in the TMD susceptible patients.Hybrid treatment with clear aligners and fixed appliances and TADs is an effective treatment modality for the complex cases.
文摘Case reports,often overlooked in evidence-based medicine(EBM),play a pivotal role in healthcare research.They provide unique insights into rare conditions,novel treatments,and adverse effects,serving as valuable educational tools and generating new hypothesis.Despite their limitations in generalizability,case reports contribute significantly to evidence-based practice by offering detailed clinical information and fostering critical thinking among healthcare professionals.By acknowledging their limitations and adhering to reporting guidelines,case reports can contribute significantly to medical knowledge and patient care within the evolving landscape of EBM.This editorial explores the intrinsic value of case reports in EBM and patient care.
文摘Evidence-based practice(EBP)has been the gold standard in healthcare for nearly three centuries and aims to assist physicians in providing the safest and most effective healthcare for their patients.The well-established hierarchy of evidence lists systematic reviews and meta-analyses at the top however these methodologies are not always appropriate or possible and in these instances case-control studies,case series and case reports are utilised to support EBP.Case-control studies allow simultaneous study of multiple risk factors and can be performed rapidly and relatively cheaply.A recent example was during the Coronavirus pandemic where case-control studies were used to assess the efficacy of personal protective equipment for healthcare workers.Case series and case reports also play a role in EBP and are particularly useful to study rare diseases such as inflammatory bowel disease in transgender and gender non-conforming individuals.They are also vital in generating and disseminating early signals and encouraging further research.Whilst these methodologies have weaknesses,particularly with regards to bias and loss of patient confidentiality for rare pathologies,they have an important part to play in EBP and when appropriately utilised can significantly impact upon clinical practice.
文摘Introduction: Osteosarcoma is the most common primary malignant bone tumor in children. It is highly aggressive and has a poor prognosis. A late presentation modifies and makes difficult the management affecting the survival of children. We report the case of a large conventional osteosarcoma in a 13-year-old girl. Case Presentation: Adolescent girl admitted for painful swelling of the left shoulder with absolute functional impotence of the thoracic limb and severe anemia. The painful swelling was thought to have been caused by a minor trauma that had occurred six months previously. The patient’s general condition was poor, and she presented with a large, shiny, painful mass over the shoulder and upper 2/3 of the left arm, measuring 28 cm long by 28 cm wide and 57 cm in circumference, and a large fistulous axillary adenopathy. CT scan showed a tumour lesion of the left humerus with liver and lung metastases, raising suspicion of osteogenic osteosarcoma. The tumor was classified according to TNM staging: T2N1M1(a + b). Management was modified when uncontrolled bleeding developed. It consisted of an extended amputation of the left thoracic limb. Pathological analysis showed a high-grade conventional osteosarcoma. Quality improvement was obtained for thirty days, followed by the onset of dyspnea. The evolution was towards death at forty days post-operatively. Conclusion: Osteosarcoma is a highly aggressive cancer. Delayed treatment leads to a fatal outcome. Early diagnosis is one of the challenges to be met in order to improve survival.
文摘Introduction: Traumatic diaphragmatic hernia is a rare condition in children complicating closed or penetrating trauma to the abdomen and thorax. We report the case of an 11-year-old girl with a traumatic diaphragmatic hernia. Case Presentation: An 11-year-old girl was seen in the paediatric surgery department for a thoracolumbar spine deformity and intermittent chest pain. These symptoms occurred after a domestic accident involving a fall from a low wall onto the thoracolumbar spine 5 months previously. The diagnosis was suggested by the presence of a left hemithoracic hydroaera and confirmed by a thoraco-abdominal CT scan. Surgical exploration revealed a linear rupture of the entire left hemi-diaphragm with herniation of the stomach, small intestine, cecum, transverse colon and omentum. We performed a double-layer suture of the diaphragmatic rupture with a non-absorbable suture without edge rejuvenation after the reduction of the hernia. The outcome was favourable with normal postoperative radiographs at one year follow-up. Conclusion: Traumatic diaphragmatic hernia, although uncommon and difficult to diagnose, is a condition that is relatively easy to manage surgically, even if it is discovered late. In all cases of trauma to the thoracolumbar spine, regular follow-up and repeat X-rays are necessary if pain persists.
文摘Introduction: Intestinal obstruction is a common cause of abdominal surgery in the neonate. Diagnosis is straightforward using standard radiology, and surgical technique depends on the underlying anatomical lesion. Peritoneal dialysis (PD) is an effective, albeit invasive, therapy for neonatal renal failure. We report a case of neonatal obstruction with severe renal failure treated by PD to highlight our hospital practice and possible remedies in a context of limited resources. Case Presentation: This was a female neonate of moderate prematurity admitted on day 4 of life for management of a flat neonatal obstruction. Radiological diagnosis suggested small bowel atresia. Biological tests revealed severe renal failure with creatinine levels of 416 micromoles per liter and blood urea of 27.1 micromoles per liter. Management consisted of preoperative peritoneal dialysis for 48 hours followed by laparotomy. The intraoperative diagnosis was GROSFELD type IIIa digestive atresia. The postoperative course was favourable, transit was resumed on day 5 and the patient returned home on day 12. Progress at 3 months was satisfactory. Conclusion: Neonatal intestinal obstruction with renal failure in premature infants is associated with a poor prognosis, even more so if there is a delay in treatment. Peritoneal dialysis seems to be a suitable alternative for this management in our working conditions with limited resources.
文摘Edge devices,due to their limited computational and storage resources,often require the use of compilers for program optimization.Therefore,ensuring the security and reliability of these compilers is of paramount importance in the emerging field of edge AI.One widely used testing method for this purpose is fuzz testing,which detects bugs by inputting random test cases into the target program.However,this process consumes significant time and resources.To improve the efficiency of compiler fuzz testing,it is common practice to utilize test case prioritization techniques.Some researchers use machine learning to predict the code coverage of test cases,aiming to maximize the test capability for the target compiler by increasing the overall predicted coverage of the test cases.Nevertheless,these methods can only forecast the code coverage of the compiler at a specific optimization level,potentially missing many optimization-related bugs.In this paper,we introduce C-CORE(short for Clustering by Code Representation),the first framework to prioritize test cases according to their code representations,which are derived directly from the source codes.This approach avoids being limited to specific compiler states and extends to a broader range of compiler bugs.Specifically,we first train a scaled pre-trained programming language model to capture as many common features as possible from the test cases generated by a fuzzer.Using this pre-trained model,we then train two downstream models:one for predicting the likelihood of triggering a bug and another for identifying code representations associated with bugs.Subsequently,we cluster the test cases according to their code representations and select the highest-scoring test case from each cluster as the high-quality test case.This reduction in redundant testing cases leads to time savings.Comprehensive evaluation results reveal that code representations are better at distinguishing test capabilities,and C-CORE significantly enhances testing efficiency.Across four datasets,C-CORE increases the average of the percentage of faults detected(APFD)value by 0.16 to 0.31 and reduces test time by over 50% in 46% of cases.When compared to the best results from approaches using predicted code coverage,C-CORE improves the APFD value by 1.1% to 12.3% and achieves an overall time-saving of 159.1%.
文摘BACKGROUND The incidence of monodermal teratomas of the reproductive system is low,and most doctors lack adequate understanding,which can easily lead to missed diagnoses and/or misdiagnosis.Therefore,it is important to fully understand the clinical characteristics,diagnosis,differential diagnosis,and treatment of monodermal teratomas of the reproductive system.CASE SUMMARY Case 1:A 14-year-old boy was admitted to the hospital with a right testicular mass for 1 wk and underwent surgical resection.He was finally diagnosed with right testicular monodermal teratoma with no special postoperative discomfort.Case 2:A 40-year-old woman was admitted to the hospital for uterine abnormalities indicated by ultrasound 20 d prior and underwent laparoscopic surgery.She was finally diagnosed with a left ovarian monodermal teratoma with a satisfactory postoperative quality of life.Case 3:A 49-year-old woman was admitted to the hospital with a pelvic mass that was discovered on B-ultrasound a week prior and underwent laparoscopic resection of the left adnexa.She was finally diagnosed with left ovarian monodermal teratoma,and her postoperative quality of life was satisfactory.CONCLUSION Monodermal teratoma is a rare tumor whose clinical manifestations are primarily benign.Simple surgical resection of the tumor is effective.
文摘BACKGROUND Gigantic epidermal cysts(GECs)are rare benign skin appendicular tumours also known as keratinocysts.GECs have a high incidence and their wall is made up of epidermis.Epidermal cysts can occur in any part of the skin;clinical manifestations include skin colour hemispherical swelling;cystic;mobile;0.5 cm to several centimetres in diameter;and slow growth.CASE SUMMARY Herein,we report a case involving a 56-year-old female with a GEC in the occipitalia.On July 25,2023,a patient with a GEC was admitted to the neurosurgery Department of the Second Affiliated Hospital of Xi'an Medical University.The phyma was shown to be a solid mass during the operation and was confirmed to be a GEC based on pathological examination.CONCLUSION Epidermal cysts are common cystic nodules on the surface of the body,the aetiology is unclear,the clinical manifestations can vary,and the misdiagnosis rate is high.However,giant epidermal cysts are rare.In most cases,however,the prognosis is satisfactory.This paper analyses and summarizes the population,location,clinical and pathological characteristics and pathogenesis of the disease to strengthen the understanding of this disease and improve the accuracy of clinical diagnosis.
基金Supported by Special TCM Innovation Project of Hebei Provincial Department of Science and Technology,No.223777130DScientific Research Project of Hebei Province Administration of Traditional Chinese Medicine,No.2024215.
文摘BACKGROUND Macrodactyly is a rare congenital malformation characterized by an increase in the size of all structures of a digit,accounting for less than 1%of all congenital upper extremity conditions.CASE SUMMARY We report a case involving a 49-year-old woman who presented for the first time with untreated,radial-sided hand macrodactyly.We performed soft tissue debulking,amputation,median nerve neurotomy and coaptation,and carpal tunnel release.At the 6-year follow-up,no significant growth was observed in the bone or soft tissue of the affected area.CONCLUSION Tissue overgrowth in patients with progressive macrodactyly can continue and progress excessively with age.Median nerve neurotomy and coaptation play a crucial role in preventing recurrence of the deformity.
文摘BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.The child’s needle EMG unveiled trains of myotonic discharges with notably giant amplitudes,alongside irregular wave trains of myotonic discharges.This distinctive observation had not surfaced in earlier studies.CASE SUMMARY We report the case of a 3-year-old female child with PMC,who exhibited la-ryngeal stridor,muffled speech,myotonia from birth.Cold,exposure to cool water,crying,and physical activity exacerbated the myotonia,which was relieved in warmth,yet never normalized.Percussion myotonia was observable in bilateral biceps.Myotonia symptoms remained unchanged after potassium-rich food consumption like bananas.Hyperkalemic periodic paralysis was excluded.Cranial magnetic resonance imaging yielded normal results.Blood potassium remained within normal range,while creatine kinase showed slight elevation.Exome-wide genetic testing pinpointed a heterozygous mutation on chromosome SCN4A:c.3917G>A(p.G1306E).After a six-month mexiletine regimen,symptoms alleviated.CONCLUSION In this case revealed the two types of myotonic discharges,and had not been documented in other studies.We underscore two distinctive features:Giant-amplitude potentials and irregular waves.
文摘BACKGROUND Hepatocellular carcinoma(HCC)is a primary liver tumor generally diagnosed based on radiographic findings.Metastatic disease is typically associated with increased tumor diameter,multifocality,and vascular invasion.We report a case of a patient who presented with extrahepatic HCC metastasis to a portocaval lymph node with occult hepatic primary on computed tomography(CT).We review the literature for cases of extrahepatic HCC presentation without known hepatic lesions and discuss strategies to differentiate between metastatic and ectopic HCC.CASE SUMMARY A 67-year-old male with remotely treated hepatis C was referred for evaluation of an enlarging portocaval,mixed cystic-solid mass.Serial CT evaluations demonstrated steatosis,but no cirrhosis or liver lesions.Endoscopic ultrasound demonstrated a normal-appearing pancreas,biliary tree,and liver.Fine needle aspiration yielded atypical cells.The differential diagnosis included duodenal or pancreatic cyst,lymphoproliferative cyst,stromal or mesenchymal lesions,nodal involvement from gastrointestinal or hematologic malignancy,or duodenal gastrointestinal stromal tumor.After review by a multidisciplinary tumor board,the patient underwent open surgical resection of a 5.2 cm×5.5 cm retroperitoneal mass with pathology consistent with moderately-differentiated HCC.Magnetic resonance imaging(MRI)subsequently demonstrated a 1.2 cm segment VIII hepatic lesion with late arterial enhancement,fatty sparing,and intrinsic T1 hyperintensity.Alpha fetoprotein was 23.3 ng/mL.The patient was diagnosed with HCC with portocaval nodal involvement.Review:We surveyed the literature for HCC presenting as extrahepatic masses without history of concurrent or prior intrahepatic HCC.We identified 18 cases of extrahepatic HCC ultimately found to represent metastatic lesions,and 30 cases of extrahepatic HCC found to be primary,ectopic HCC.CONCLUSION Hepatocellular carcinoma can seldomly present with extrahepatic metastasis in the setting of occult primary.In patients with risk factors for HCC and lesions suspicious for metastatic disease,MRI may be integral to identifying small hepatic lesions and differentiating from ectopic HCC.Tumor markers may also have utility in establishing the diagnosis.