Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a c...Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.展开更多
BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preopera...BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preoperative detection of appen-diceal bleeding often poses challenges due to the lack of related guidelines and consensus,resulting in controversial treatment approaches.CASE SUMMARY We presented a case of a 33-year-old female who complained of hematochezia that had lasted for 1 d.Colonoscopy revealed continuous bleeding in the appen-diceal orifice.A laparoscopic appendectomy was performed immediately,and a pulsating blood vessel was observed in the mesangium of the appendix,accor-dingly,active bleeding into the appendicular lumen was considered.Pathological examination revealed numerous hyperplastic vessels in the appendiceal mucosa and dilated capillary vessels.CONCLUSION The preoperative detection of appendiceal bleeding is often challenging,colo-noscopy is extremely important,bowel preparation is not routinely recommend-ed for patients with acute LGIB or only low-dose bowel preparation is recom-mended.Laparoscopic appendectomy is the most appropriate treatment for appendiceal bleeding.展开更多
BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face ar...BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.展开更多
Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information i...Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information in patients with CM. However, the consistency of SEP abnormality or normality with the damage is a matter of research. Knowing whether median nerve somatosensory evoked potential (SEP) is useful in revealing subclinical damage in patients with Chiari malformation is important in the treatment and follow-up plan of the disease. The aim of this study was to investigate the relationship between median nerve SEP values and the severity of cerebellar ectopia in patients with Chiari type 1 malformation. Median nerve SEP values were obtained from 30 healthy individuals and 146 individuals with Chiari malformation. The cerebellar ectopia degree and McRae line length were measured. SEP values were not significantly different between groups. The McRae line was found to be significantly shorter in the control group than in the Chiari malformation group (p = 0.031). There was no correlation between the degree of cerebellar ectopia and the length of the McRae line (r = 0.002, p = 0.979). Neither cerebellar ectopy degree nor McRae line length had a relationship with SEP values (r = -0.153, p = 0.066;r = -0.056, p = 0.500, respectively). There was no difference in cerebellar ectopy degree or SEP values between the groups with cerebellar ectopy with and without a syrinx (p = 0.899;p = 0.080, respectively). Likewise, McRae line length was not found to be related to the presence of a syrinx (p = 0.139). Median nerve SEP examination was not beneficial for diagnosing asymptomatic-oligosymptomatic Chiari malformation as a subclinical injury, whether accompanied by syringomyelia or not.展开更多
Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that defi...BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that definitive treatment using either single or multi-modal approach is warranted for successful bAVM management,much debate still revolves regarding the optimal timing of definitive treatment.CASE SUMMARY In this report,we present a case of delayed,definitive endovascular treatment for ruptured bAVM in a 21-year-old female,3 mo post-ictus.The bAVM,with a left pericallosal feeding artery and cortical draining veins,was successfully obliterated through embolization using the Onyx 18.On follow-up the patient has recommenced her daily activities and experiences only mild occasional headaches with mild motor deficits.The report leads to our review on an important issue regarding the optimal timing of ruptured bAVM definitive management and bring forward the current evidence available on delayed vs immediate definitive bAVM intervention.We also highlight current issues that need to be addressed for clearer guidelines on definitive therapy initiation.CONCLUSION Current treatment paradigms of ruptured bAVM remains elusive,with substantial heterogeneity in the current literature.A consensus on the definition of“acute”vs“delayed”,management goal,follow-up length and outcome parameters are required to support formation of a clear paradigm.展开更多
Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impac...Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.展开更多
As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and mani...As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and manipulation.Human cortical organoids derived from human pluripotent stem cells can elaborately replicate many of the key properties of human cortical development at the molecular,cellular,structural,and functional levels,including the anatomy,functional neural network,and interaction among different brain regions,thus facilitating the discovery of brain development and evolution.In addition to studying the neuro-electrophysiological features of brain cortex development,human cortical organoids have been widely used to mimic the pathophysiological features of cortical-related disease,especially in mimicking malformations of cortical development,thus revealing pathological mechanism and identifying effective drugs.In this review,we provide an overview of the generation of human cortical organoids and the properties of recapitulated cortical development and further outline their applications in modeling malformations of cortical development including pathological phenotype,underlying mechanisms and rescue strategies.展开更多
The use of live animal models for testing new therapies for brain and spinal cord repair is a controversial area. Live animal models have associated ethical issues and scientific concerns regarding the predictability ...The use of live animal models for testing new therapies for brain and spinal cord repair is a controversial area. Live animal models have associated ethical issues and scientific concerns regarding the predictability of human responses. Alternative models that replicate the 3 D architecture of the central nervous system have prompted the development of organotypic neural injury models. However, the lack of reliable means to access normal human neural tissue has driven reliance on pathological or post-mortem tissue which limits their biological utility. We have established a protocol to use donor cerebellar tonsillar tissue surgically resected from patients with Chiari malformation(cerebellar herniation towards the foramen magnum, with ectopic rather than diseased tissue) to develop an in vitro organotypic model of traumatic brain injury. Viable tissue was maintained for approximately 2 weeks with all the major neural cell types detected. Traumatic injuries could be introduced into the slices with some cardinal features of post-injury pathology evident. Biomaterial placement was also feasible within the in vitro lesions. Accordingly, this ‘proof-of-concept’ study demonstrates that the model offers potential as an alternative to the use of animal tissue for preclinical testing in neural tissue engineering. To our knowledge, this is the first demonstration that donor tissue from patients with Chiari malformation can be used to develop a benchtop model of traumatic brain injury. However, significant challenges in relation to the clinical availability of tissue were encountered, and we discuss logistical issues that must be considered for model scale-up.展开更多
Congenital extrahepatic portosystemic shunt(CEPS),also known as Abernethy malformation,is a rare disorder characterized by the partial or complete diversion of portal blood into systemic veins.CEPS is classified into ...Congenital extrahepatic portosystemic shunt(CEPS),also known as Abernethy malformation,is a rare disorder characterized by the partial or complete diversion of portal blood into systemic veins.CEPS is classified into two types:typeⅠis an end-to-side portocaval shunt,whereas typeⅡis a side-to-side shunt,diverting blood from the portal vein to the inferior vena cava(IVC)(Figure 1).[1]展开更多
Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associa...Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associated with other anomalies.Simple VMs include lymphatic,venous,capillary,and arteriovenous malformations(AVMs).AVMs represent disorders of direct arteriovenous shunts caused by the absence of a capillary bed between the involved arteries and veins.This abnormal vascular communication causes arterial blood to accumulate in the venous vessels,thus resulting in venous hypertension and characteristic clinical manifestations,such as pulsation,tremors,and elevated temperature.AVMs can occur sporadically or as manifestations of syndromic lesions and are considered among the most complex and challenging VMs.The diagnosis and treatment of AVMs can vary depending on the lesion location and associated clinical symptoms,thus complicating their management.Herein,we discuss peripheral AVMs in terms of their clinical manifestations,imaging examinations,and staging systems to provide a comprehensive reference for the treatment,evaluation methods,and follow-up procedures for this vascular anomaly.展开更多
Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducibl...Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.展开更多
We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants...We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants in PLD1.In his parents’second pregnancy,echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.展开更多
Objective:To analyze the safety and effectiveness of the ethylene-vinyl alcohol copolymer(EVOH)liquid embolic agent Squid(Emboflu,Switzerland)for the treatment of brain arteriovenous malformations.Materials and proced...Objective:To analyze the safety and effectiveness of the ethylene-vinyl alcohol copolymer(EVOH)liquid embolic agent Squid(Emboflu,Switzerland)for the treatment of brain arteriovenous malformations.Materials and procedures:Between April 2015 and July 2017,46 embolization treatments for brain arteriovenous malformations(BAVM)were performed in 25 patients using two Squid formulations(18 and 12).Six female and 19 male patients with a mean age of 34 years(range,9–62 years)were included.A total of 46 procedures were performed.The BAVMs were classified as Spetzler-Martin gradeⅡin 4 procedures,Ⅲin 27 procedures,and 1V in 15 procedures.Among the 25 patients,15 presented with hemorrhage,5 with seizures,and 5 with headache and neurology.The BAVMs were located in the temporal lobe in 5 patients,parietal lobe in 7 patients,frontal lobe in 3 patients,posterior fossa in 6 patients,basal ganglia in 3 patients,and parasagittal lobe in 1 patient.Results:The obliteration rate of the BAVMs ranged from 10%to 100%,with a mean of 33%.Most patients underwent their first or second embolization procedure.Four patients(8%)developed intracranial bleeding post procedure,with one death(2%).One patient(2%)experienced a seizure during the procedure;however,no intracranial bleeding was observed.Seven patients(15%)experienced perforations during catheter manipulation.One case(2%)of fractured catheter was recorded,but no significant complications were observed.The average volume of copolymer injected was 0.6 ml per nidus.Thirteen procedures used the Squid-12 formulation,29 procedures used the Squid-18 formulation,and 3 procedures used a combination of Squid-12 and-18 formulations.Conclusion:Squid is a safe and effective embolic agent for treating BAVMs.展开更多
Arteriovenous malformations(AVMs)are serious congenital vascular anomalies in which the arteries connect directly with veins without capillaries.This condition will continue to worsen without proper intervention and c...Arteriovenous malformations(AVMs)are serious congenital vascular anomalies in which the arteries connect directly with veins without capillaries.This condition will continue to worsen without proper intervention and cause ulcers,repeated hemorrhages,and even cardiac insufficiency.Primary treatment options for AVMs include surgery and interventional treatment;however,they are associated with high risk and recurrence rates.Recent studies revealed that excessive activation of the Ras/MAPK pathway can induce the formation and development of peripheral AVM,whereas MEK inhibitors can effectively control nidus progression,making them a potential novel treatment for AVM.This review provides an up-to-date overview of correlated laboratory and clinical research to provide information for further research and clinical practice.展开更多
BACKGROUND Various treatment methods are available for the treatment of pancreatic arteriovenous malformation(P-AVM);however,there are no established treatment options for asymptomatic P-AVM.CASE SUMMARY A 47-year-old...BACKGROUND Various treatment methods are available for the treatment of pancreatic arteriovenous malformation(P-AVM);however,there are no established treatment options for asymptomatic P-AVM.CASE SUMMARY A 47-year-old and a 50-year-old male patients sought treatment for P-AVM in the pancreas,which was incidentally detected during routine abdominal computed tomography and magnetic resonance imaging conducted as part of a health check-up.They underwent transcatheter arterial embolization(TAE),and over the course of a 9-year follow-up period,the AVM did not worsen and was asymptomatic.CONCLUSION TAE can be considered as an alternative treatment option for P-AVM in selective cases where patients are asymptomatic or have a high surgical risk.展开更多
BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous system.Cystic fibrosis(CF)is an autosoma...BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous system.Cystic fibrosis(CF)is an autosomal recessive genetic disease caused by mutations in the CFTR gene.It mainly affects the exocrine glands of the respiratory,digestive and reproductive systems.It is considered extremely rare in the Asian population.We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.CASE SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis,and chest computed tomography(CT)showed bronchiectasis.Whole exome sequencing was performed for the patient,yielding findings that revealed a compound heterozygous variant of the CFTR gene:c.233_c.234insT/p.Trp79fsTer3(maternal origin);c.2909G>A/p.Gly970Asp(paternal origin).CF was diagnosed.The physician’s attention was drawn to the presence of splenomegaly during disease progression.Abdominal enhanced CT revealed splenomegaly,compression of the left kidney,and multiple tortuous dilated vascular shadows were seen at the splenic hilum,which flowed back into the left renal vein and portal vein,suggesting Abernethy malformation type II.Intraoperatively,the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing,and the pathology of liver biopsy showed hypoplastic,dilated or absent portal vein branches,both of which supported the diagnosis of Abernethy malformation type II.This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.CONCLUSION Coexisting Abernethy malformation and CF are rare.Detailed medical history information,abdominal enhanced CT,venography and genetic testing contribute to diagnosis as well as differential diagnosis.展开更多
BACKGROUND This case report demonstrates the simultaneous development of a gastrointestinal stromal tumour(GIST)with arteriovenous malformations(AVMs)within the jejunal mesentery.A 74-year-old male presented to the de...BACKGROUND This case report demonstrates the simultaneous development of a gastrointestinal stromal tumour(GIST)with arteriovenous malformations(AVMs)within the jejunal mesentery.A 74-year-old male presented to the department of surgery at our institution with a one-month history of abdominal pain.Contrast-enhanced computed tomography revealed an AVM.During exploratory laparotomy,hyperspectral imaging(HSI)and indocyanine green(ICG)fluorescence were used to evaluate the extent of the tumour and determine the resection margins.Intraoperative imaging confirmed AVM,while histopathological evaluation showed an epithelioid,partially spindle cell GIST.CASE SUMMARY This is the first case reporting the use of HSI and ICG to image GIST intermingled with an AVM.The resection margins were planned using intraoperative analysis of additional optical data.Image-guided surgery enhances the clinician’s knowledge of tissue composition and facilitates tissue differentiation.CONCLUSION Since image-guided surgery is safe,this procedure should increase in popularity among the next generation of surgeons as it is associated with better postoperative outcomes.展开更多
Arteriovenous malformations(AVMs)are aggressive congenital high-flow vascular anomalies,in which the feeding artery and draining vein are connected through fistulas without normal capillary networks.In severe cases,th...Arteriovenous malformations(AVMs)are aggressive congenital high-flow vascular anomalies,in which the feeding artery and draining vein are connected through fistulas without normal capillary networks.In severe cases,the condition may cause swelling,ulceration,bleeding,and even heart failure.Various treatment options are available for AVMs,including laser,surgical resection,embolization,and targeted drug therapy.With the development of endovascular treatment technology,absolute ethanol embolization of AVMs has become one of the first-line therapies owing to its sustained efficacy and low recurrence rate.However,administration of this therapy is challenging and may lead to serious complications if inappropriately managed.In this article,we reviewed and summarized previous clinical articles,literature reviews,and clinical trial data to comprehensively describe clinical manifestations of AVMs,the mechanism of ethanol embolotherapy,key points in treatment and management of complications,and issues that need to be addressed.We expect to provide a reliable information reference source for clinical physicians and researchers.展开更多
Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of ori...Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.展开更多
文摘Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.
文摘BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preoperative detection of appen-diceal bleeding often poses challenges due to the lack of related guidelines and consensus,resulting in controversial treatment approaches.CASE SUMMARY We presented a case of a 33-year-old female who complained of hematochezia that had lasted for 1 d.Colonoscopy revealed continuous bleeding in the appen-diceal orifice.A laparoscopic appendectomy was performed immediately,and a pulsating blood vessel was observed in the mesangium of the appendix,accor-dingly,active bleeding into the appendicular lumen was considered.Pathological examination revealed numerous hyperplastic vessels in the appendiceal mucosa and dilated capillary vessels.CONCLUSION The preoperative detection of appendiceal bleeding is often challenging,colo-noscopy is extremely important,bowel preparation is not routinely recommend-ed for patients with acute LGIB or only low-dose bowel preparation is recom-mended.Laparoscopic appendectomy is the most appropriate treatment for appendiceal bleeding.
文摘BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.
文摘Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information in patients with CM. However, the consistency of SEP abnormality or normality with the damage is a matter of research. Knowing whether median nerve somatosensory evoked potential (SEP) is useful in revealing subclinical damage in patients with Chiari malformation is important in the treatment and follow-up plan of the disease. The aim of this study was to investigate the relationship between median nerve SEP values and the severity of cerebellar ectopia in patients with Chiari type 1 malformation. Median nerve SEP values were obtained from 30 healthy individuals and 146 individuals with Chiari malformation. The cerebellar ectopia degree and McRae line length were measured. SEP values were not significantly different between groups. The McRae line was found to be significantly shorter in the control group than in the Chiari malformation group (p = 0.031). There was no correlation between the degree of cerebellar ectopia and the length of the McRae line (r = 0.002, p = 0.979). Neither cerebellar ectopy degree nor McRae line length had a relationship with SEP values (r = -0.153, p = 0.066;r = -0.056, p = 0.500, respectively). There was no difference in cerebellar ectopy degree or SEP values between the groups with cerebellar ectopy with and without a syrinx (p = 0.899;p = 0.080, respectively). Likewise, McRae line length was not found to be related to the presence of a syrinx (p = 0.139). Median nerve SEP examination was not beneficial for diagnosing asymptomatic-oligosymptomatic Chiari malformation as a subclinical injury, whether accompanied by syringomyelia or not.
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
文摘BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that definitive treatment using either single or multi-modal approach is warranted for successful bAVM management,much debate still revolves regarding the optimal timing of definitive treatment.CASE SUMMARY In this report,we present a case of delayed,definitive endovascular treatment for ruptured bAVM in a 21-year-old female,3 mo post-ictus.The bAVM,with a left pericallosal feeding artery and cortical draining veins,was successfully obliterated through embolization using the Onyx 18.On follow-up the patient has recommenced her daily activities and experiences only mild occasional headaches with mild motor deficits.The report leads to our review on an important issue regarding the optimal timing of ruptured bAVM definitive management and bring forward the current evidence available on delayed vs immediate definitive bAVM intervention.We also highlight current issues that need to be addressed for clearer guidelines on definitive therapy initiation.CONCLUSION Current treatment paradigms of ruptured bAVM remains elusive,with substantial heterogeneity in the current literature.A consensus on the definition of“acute”vs“delayed”,management goal,follow-up length and outcome parameters are required to support formation of a clear paradigm.
文摘Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.
基金supported by the National Natural Science Foundation of China(Major Project),No.82030110(to CYM)the National Natural Science Foundation(Youth Program),No.82003754(to SNW)+1 种基金Medical Innovation Major Project,No.16CXZ009(to CYM)Shanghai Science and Technology Commission Projects,Nos.20YF1458400(to SNW)and 21140901000(to CYM)。
文摘As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and manipulation.Human cortical organoids derived from human pluripotent stem cells can elaborately replicate many of the key properties of human cortical development at the molecular,cellular,structural,and functional levels,including the anatomy,functional neural network,and interaction among different brain regions,thus facilitating the discovery of brain development and evolution.In addition to studying the neuro-electrophysiological features of brain cortex development,human cortical organoids have been widely used to mimic the pathophysiological features of cortical-related disease,especially in mimicking malformations of cortical development,thus revealing pathological mechanism and identifying effective drugs.In this review,we provide an overview of the generation of human cortical organoids and the properties of recapitulated cortical development and further outline their applications in modeling malformations of cortical development including pathological phenotype,underlying mechanisms and rescue strategies.
基金funded by a grant from the North Staffordshire Medical Institute,UK (to DMC and NT)。
文摘The use of live animal models for testing new therapies for brain and spinal cord repair is a controversial area. Live animal models have associated ethical issues and scientific concerns regarding the predictability of human responses. Alternative models that replicate the 3 D architecture of the central nervous system have prompted the development of organotypic neural injury models. However, the lack of reliable means to access normal human neural tissue has driven reliance on pathological or post-mortem tissue which limits their biological utility. We have established a protocol to use donor cerebellar tonsillar tissue surgically resected from patients with Chiari malformation(cerebellar herniation towards the foramen magnum, with ectopic rather than diseased tissue) to develop an in vitro organotypic model of traumatic brain injury. Viable tissue was maintained for approximately 2 weeks with all the major neural cell types detected. Traumatic injuries could be introduced into the slices with some cardinal features of post-injury pathology evident. Biomaterial placement was also feasible within the in vitro lesions. Accordingly, this ‘proof-of-concept’ study demonstrates that the model offers potential as an alternative to the use of animal tissue for preclinical testing in neural tissue engineering. To our knowledge, this is the first demonstration that donor tissue from patients with Chiari malformation can be used to develop a benchtop model of traumatic brain injury. However, significant challenges in relation to the clinical availability of tissue were encountered, and we discuss logistical issues that must be considered for model scale-up.
基金funded by the Tianjin Health Technology Project(20188)Peking Union Medical Foundation-Ruiyi Emergency Medical Research Fund(R2020010)。
文摘Congenital extrahepatic portosystemic shunt(CEPS),also known as Abernethy malformation,is a rare disorder characterized by the partial or complete diversion of portal blood into systemic veins.CEPS is classified into two types:typeⅠis an end-to-side portocaval shunt,whereas typeⅡis a side-to-side shunt,diverting blood from the portal vein to the inferior vena cava(IVC)(Figure 1).[1]
基金supported by the Transverse Research Project of Shanghai Ninth People’s Hospital(No.JYHX2022007)
文摘Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associated with other anomalies.Simple VMs include lymphatic,venous,capillary,and arteriovenous malformations(AVMs).AVMs represent disorders of direct arteriovenous shunts caused by the absence of a capillary bed between the involved arteries and veins.This abnormal vascular communication causes arterial blood to accumulate in the venous vessels,thus resulting in venous hypertension and characteristic clinical manifestations,such as pulsation,tremors,and elevated temperature.AVMs can occur sporadically or as manifestations of syndromic lesions and are considered among the most complex and challenging VMs.The diagnosis and treatment of AVMs can vary depending on the lesion location and associated clinical symptoms,thus complicating their management.Herein,we discuss peripheral AVMs in terms of their clinical manifestations,imaging examinations,and staging systems to provide a comprehensive reference for the treatment,evaluation methods,and follow-up procedures for this vascular anomaly.
基金David E.Bryant TrustLeopold Fund for Vascular AnomaliesNational Institutes of Health,Grant/Award Number:1R01HL151679。
文摘Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.
基金This work was funded by the Ted Rogers Centre for Heart Research.
文摘We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants in PLD1.In his parents’second pregnancy,echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.
文摘Objective:To analyze the safety and effectiveness of the ethylene-vinyl alcohol copolymer(EVOH)liquid embolic agent Squid(Emboflu,Switzerland)for the treatment of brain arteriovenous malformations.Materials and procedures:Between April 2015 and July 2017,46 embolization treatments for brain arteriovenous malformations(BAVM)were performed in 25 patients using two Squid formulations(18 and 12).Six female and 19 male patients with a mean age of 34 years(range,9–62 years)were included.A total of 46 procedures were performed.The BAVMs were classified as Spetzler-Martin gradeⅡin 4 procedures,Ⅲin 27 procedures,and 1V in 15 procedures.Among the 25 patients,15 presented with hemorrhage,5 with seizures,and 5 with headache and neurology.The BAVMs were located in the temporal lobe in 5 patients,parietal lobe in 7 patients,frontal lobe in 3 patients,posterior fossa in 6 patients,basal ganglia in 3 patients,and parasagittal lobe in 1 patient.Results:The obliteration rate of the BAVMs ranged from 10%to 100%,with a mean of 33%.Most patients underwent their first or second embolization procedure.Four patients(8%)developed intracranial bleeding post procedure,with one death(2%).One patient(2%)experienced a seizure during the procedure;however,no intracranial bleeding was observed.Seven patients(15%)experienced perforations during catheter manipulation.One case(2%)of fractured catheter was recorded,but no significant complications were observed.The average volume of copolymer injected was 0.6 ml per nidus.Thirteen procedures used the Squid-12 formulation,29 procedures used the Squid-18 formulation,and 3 procedures used a combination of Squid-12 and-18 formulations.Conclusion:Squid is a safe and effective embolic agent for treating BAVMs.
基金sponsored by 2023 Shanghai Jiao Tong University Medical-Industrial Intersection Key Project(grant no.YG2023ZD13):Screening of Novel Targeted Inhibitors Based on Genetic Vascular Malformation Organoid Models.
文摘Arteriovenous malformations(AVMs)are serious congenital vascular anomalies in which the arteries connect directly with veins without capillaries.This condition will continue to worsen without proper intervention and cause ulcers,repeated hemorrhages,and even cardiac insufficiency.Primary treatment options for AVMs include surgery and interventional treatment;however,they are associated with high risk and recurrence rates.Recent studies revealed that excessive activation of the Ras/MAPK pathway can induce the formation and development of peripheral AVM,whereas MEK inhibitors can effectively control nidus progression,making them a potential novel treatment for AVM.This review provides an up-to-date overview of correlated laboratory and clinical research to provide information for further research and clinical practice.
文摘BACKGROUND Various treatment methods are available for the treatment of pancreatic arteriovenous malformation(P-AVM);however,there are no established treatment options for asymptomatic P-AVM.CASE SUMMARY A 47-year-old and a 50-year-old male patients sought treatment for P-AVM in the pancreas,which was incidentally detected during routine abdominal computed tomography and magnetic resonance imaging conducted as part of a health check-up.They underwent transcatheter arterial embolization(TAE),and over the course of a 9-year follow-up period,the AVM did not worsen and was asymptomatic.CONCLUSION TAE can be considered as an alternative treatment option for P-AVM in selective cases where patients are asymptomatic or have a high surgical risk.
文摘BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous system.Cystic fibrosis(CF)is an autosomal recessive genetic disease caused by mutations in the CFTR gene.It mainly affects the exocrine glands of the respiratory,digestive and reproductive systems.It is considered extremely rare in the Asian population.We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.CASE SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis,and chest computed tomography(CT)showed bronchiectasis.Whole exome sequencing was performed for the patient,yielding findings that revealed a compound heterozygous variant of the CFTR gene:c.233_c.234insT/p.Trp79fsTer3(maternal origin);c.2909G>A/p.Gly970Asp(paternal origin).CF was diagnosed.The physician’s attention was drawn to the presence of splenomegaly during disease progression.Abdominal enhanced CT revealed splenomegaly,compression of the left kidney,and multiple tortuous dilated vascular shadows were seen at the splenic hilum,which flowed back into the left renal vein and portal vein,suggesting Abernethy malformation type II.Intraoperatively,the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing,and the pathology of liver biopsy showed hypoplastic,dilated or absent portal vein branches,both of which supported the diagnosis of Abernethy malformation type II.This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.CONCLUSION Coexisting Abernethy malformation and CF are rare.Detailed medical history information,abdominal enhanced CT,venography and genetic testing contribute to diagnosis as well as differential diagnosis.
文摘BACKGROUND This case report demonstrates the simultaneous development of a gastrointestinal stromal tumour(GIST)with arteriovenous malformations(AVMs)within the jejunal mesentery.A 74-year-old male presented to the department of surgery at our institution with a one-month history of abdominal pain.Contrast-enhanced computed tomography revealed an AVM.During exploratory laparotomy,hyperspectral imaging(HSI)and indocyanine green(ICG)fluorescence were used to evaluate the extent of the tumour and determine the resection margins.Intraoperative imaging confirmed AVM,while histopathological evaluation showed an epithelioid,partially spindle cell GIST.CASE SUMMARY This is the first case reporting the use of HSI and ICG to image GIST intermingled with an AVM.The resection margins were planned using intraoperative analysis of additional optical data.Image-guided surgery enhances the clinician’s knowledge of tissue composition and facilitates tissue differentiation.CONCLUSION Since image-guided surgery is safe,this procedure should increase in popularity among the next generation of surgeons as it is associated with better postoperative outcomes.
基金supported by Rare Disease Registration Platform of Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine(grant no.JYHJB02).
文摘Arteriovenous malformations(AVMs)are aggressive congenital high-flow vascular anomalies,in which the feeding artery and draining vein are connected through fistulas without normal capillary networks.In severe cases,the condition may cause swelling,ulceration,bleeding,and even heart failure.Various treatment options are available for AVMs,including laser,surgical resection,embolization,and targeted drug therapy.With the development of endovascular treatment technology,absolute ethanol embolization of AVMs has become one of the first-line therapies owing to its sustained efficacy and low recurrence rate.However,administration of this therapy is challenging and may lead to serious complications if inappropriately managed.In this article,we reviewed and summarized previous clinical articles,literature reviews,and clinical trial data to comprehensively describe clinical manifestations of AVMs,the mechanism of ethanol embolotherapy,key points in treatment and management of complications,and issues that need to be addressed.We expect to provide a reliable information reference source for clinical physicians and researchers.
文摘Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.