Interspecific crossing was carried out among and between two strains of Clarias gariepinus with mouth malformation and crooked-back traits to determine the source（s） of their deformities and the effects of these mor...Interspecific crossing was carried out among and between two strains of Clarias gariepinus with mouth malformation and crooked-back traits to determine the source（s） of their deformities and the effects of these morphological deformities on their growth and survival. Synthetic ovaprim hormone was used for their inducement at 0.5 mL/kg of the brood stock body weight at FEDAK integrated farm, Ado-Ekiti, Nigeria. Under indoor management, highest mean survival rate was 73% recorded in the hybrid of female mouth malformed C. gariepinus x male crooked back C. gariepinus and the least mean survival rate was 70% recorded in the mouth malformed C. gariepinus parental. Under outdoor rearing crooked back C. gariepinus parental had the highest mean growth rate （11.20 grammes） while the hybrid of the cross between female crooked back C. gariepinus and male with mouth malformed C. gariepinus had the least mean growth rate （8.63 grammes）. High frequency of occurrence of various morphological aberrations （0.92%） was recorded in the mouth malformed C. gariepinus parental and low frequency of occurrence （0.57%） of morphological aberrations recorded in hybrid of female crooked back C. gariepinus x male mouth malformed C. gariepinus. The reoccurrence of some of these morphological deformities in Clarias is a mystery based on their consistent occurrence even under a very good hatchery management. More research works still need to be done in this area of study of Clarias to unravel the mystery behind this morphological imbalance, because the deformities play special roles in discouraging both the farmers and the consumers of this fish.展开更多
Objective: To report a scala tympani drill-out technique for managing malformed facial nerve covering the entire oval window(OW).Methods: Data from three cases with OW atresia, malformed stapes and abnormal facial ner...Objective: To report a scala tympani drill-out technique for managing malformed facial nerve covering the entire oval window(OW).Methods: Data from three cases with OW atresia, malformed stapes and abnormal facial nerve courses were reported, in which a scala tympani drill-out technique was employed with a TORP between the tympanic membrane and scala tympani fenestration for hearing reconstruction.Results: Air conduction hearing improved in two of the three cases following surgery. In the third case, there was no improvement in air conduction hearing following a canal wall up mastoidectomy and tympanoplasty. There were no vertigo, tinnitus or sensorineural hearing loss in the three cases.Conclusion: The scala tympani drill-out technique, which is basically fenestration at the initial part of the basal turn, provides a choice in hearing reconstruction when the OW is completely covered by abarrently coursed facial nerve.展开更多
The prevalence of Class Ⅲ malocclusion varies among different countries and regions. The populations from Southeast Asian countries (Chinese and Malaysian) showed the highest prevalence rate of 15.8%, which can serio...The prevalence of Class Ⅲ malocclusion varies among different countries and regions. The populations from Southeast Asian countries (Chinese and Malaysian) showed the highest prevalence rate of 15.8%, which can seriously affect oral function, facial appearance, and mental health. As anterior crossbite tends to worsen with growth, early orthodontic treatment can harness growth potential to normalize maxillofacial development or reduce skeletal malformation severity, thereby reducing the difficulty and shortening the treatment cycle of later-stage treatment. This is beneficial for the physical and mental growth of children. Therefore,early orthodontic treatment for Class Ⅲ malocclusion is particularly important. Determining the optimal timing for early orthodontic treatment requires a comprehensive assessment of clinical manifestations, dental age, and skeletal age, and can lead to better results with less effort. Currently, standardized treatment guidelines for early orthodontic treatment of Class Ⅲ malocclusion are lacking. This review provides a comprehensive summary of the etiology, clinical manifestations, classification, and early orthodontic techniques for Class Ⅲ malocclusion, along with systematic discussions on selecting early treatment plans. The purpose of this expert consensus is to standardize clinical practices and improve the treatment outcomes of Class Ⅲ malocclusion through early orthodontic treatment.展开更多
This article provides a detailed account of the diagnosis and treatment of a case involving a uterine artery pseudoaneurysm(UAP),as well as an analysis of UAP etiology.This finding emphasizes that UAP should be consid...This article provides a detailed account of the diagnosis and treatment of a case involving a uterine artery pseudoaneurysm(UAP),as well as an analysis of UAP etiology.This finding emphasizes that UAP should be considered in patients presenting with abnormal genital bleeding after hysteroscopy and offers valuable insights and lessons for gynecologists in hysteroscopic procedures.The patient underwent timely relevant examinations to confirm the diagnosis,allowing for crucial time required for her treatment.In this study,the primary cause of UAP formation in the patient was attributed to a prior hysteroscopic surgical procedure conducted at another medical facility,suggesting that the selection and imple-mentation of dilatation catheters are some of the predisposing factors for UAP.In conclusion,this case study offers a comprehensive analysis of the etiology of UAP and effectively provides timely diagnosis and treatment,offering valuable in-sights for the clinical diagnosis and management of UAP.展开更多
In this article,we comment on the paper by Kakinuma et al published recently.We focus specifically on the diagnosis of uterine pseudoaneurysm,but we also review other uterine vascular anomalies that may be the cause o...In this article,we comment on the paper by Kakinuma et al published recently.We focus specifically on the diagnosis of uterine pseudoaneurysm,but we also review other uterine vascular anomalies that may be the cause of life-threating hemorrhage and the different causes of uterine pseudoaneurysms.Uterine artery pseudoaneurysm is a complication of both surgical gynecological and nontraumatic procedures.Massive hemorrhage is the consequence of the rupture of the pseudoaneurysm.Uterine artery pseudoaneurysm can develop after obstetric or gynecological procedures,being the most frequent after cesarean or vaginal deliveries,curettage and even during pregnancy.However,there are several cases described unrelated to pregnancy,such as after conization,hysteroscopic surgery or laparoscopic myomectomy.Hemorrhage is the clinical manifestation and it can be life-threatening so suspicion of this vascular lesion is essential for early diagnosis and treatment.However,there are other uterine vascular anomalies that may be the cause of severe hemorrhage,which must be taken into account in the differential diagnosis.Computed tomography angiography and embolization is supposed to be the first therapeutic option in most of them.展开更多
Malformations of cortical development(MCDs)represent one of the most common causes of childhood-onset epilepsy,and are often refractory to antiseizure medications(Guerrini,2006;Guerrini and Dobyns,2014;Severino et al....Malformations of cortical development(MCDs)represent one of the most common causes of childhood-onset epilepsy,and are often refractory to antiseizure medications(Guerrini,2006;Guerrini and Dobyns,2014;Severino et al.,2020).Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy(MOGHE)is a newly recognized subtype of Focal Cortical Dysplasia(FCD),which was officially added to the FCD classification in 2022 by the International League Against Epilepsy(ILAE)(Najm et al.,2022).展开更多
Developmental venous anomalies(DVAs)are benign congenital veins that collect normal brain drainage into a single outlet.Cerebral cavernous malformations(CMs)are clusters of thin-walled capillary cavities prone to blee...Developmental venous anomalies(DVAs)are benign congenital veins that collect normal brain drainage into a single outlet.Cerebral cavernous malformations(CMs)are clusters of thin-walled capillary cavities prone to bleeding.When both lesions coexist,the DVA’s altered venous pressure and flow can promote CM formation or rupture.Detecting a DVA abutting an otherwise unexplained intracerebral hemorrhage can therefore raise suspicion of an occult CM as a likely cause,a clue which may be invaluable for daily clinical practice.The main focus of this review is to acknowledge the hallmark imaging appearances of DVAs and CMs,as well as their coexistence,explore the clinical consequences of mixed lesions,and emphasize that recognizing their partnership is vital for an accurate,timely diagnosis and appropriately targeted management.展开更多
Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).Wit...Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).With a prevalence of 3.8/100,000(Barisic et al.,2014),CFM is the second most common congenital craniofacial abnormality(Li et al.,2022;Luo et al.,2023).Most cases are sporadic,but familial ones suggest autosomal dominant(AD)or autosomal recessive(AR)(Beleza-Meireles et al.,2014).In 2023,Quiat et al.and Mao et al.successively identified FOXI3 variants in 16 pedigrees and 10 sporadic cases,respectively,accounting for 3.1%of CFM cases(Mao et al.,2023;Quiat et al.,2023).FOX/3 has surpassed SF3B2 as the most frequently identified pathogenic gene for CFM to date(Timberlake et al.,2021;Mao et al.,2023;Quiat et al.,2023).In this study,we performed whole-exome sequencing(WES)on 201 CFM pedigrees and detected FOX/3 variants in 8 AD-inherited pedigrees with 24 patients and 28 unaffected individuals(Fig.1A).展开更多
Congenital gastric ectopic pylorus(CGEP),also known as gastric ectopic pyloric opening,is a rare congenital gastric abnormality.It was first reported and termed by Yu and Zhao from China in 1983,and in 2007,Uraz et al...Congenital gastric ectopic pylorus(CGEP),also known as gastric ectopic pyloric opening,is a rare congenital gastric abnormality.It was first reported and termed by Yu and Zhao from China in 1983,and in 2007,Uraz et al published the first report of CGEP in the English literature.We conducted a systemic review of the literature of CGEP published in English or Chinese,and found that CGEP occurred more frequently in the 6th and 7th decade of life,with a male predominance(89.7%).The majority of reported cases(89.2%)were from East Asia,and the underlying mechanism remains unknown.Most patients with CGEP presented non-specific symptoms,including abdominal pain,bloating,regurgitation,and belching.A few patients(30%)experienced upper gastrointestinal bleeding.Given the non-specific symptoms,misdiagnosis or underdiagnosis often occurs.Gastroscopy and upper gastrointestinal radiography are the main examinations used to confirm the diagnosis.Currently,conservative medication is the mainstay treatment.In this systematic review,we describe the history,etiology,diagnosis and treatment of CGEP in detail,aiming to provide a comprehensive understanding of this rare disease and avoid misdiagnosis.展开更多
Introduction: Arteriovenous malformation is a rare pathology, often discovered accidentally in children. Generally, it presents as an intra-parenchymal hematoma following rupture of the affected vessels. The risk of r...Introduction: Arteriovenous malformation is a rare pathology, often discovered accidentally in children. Generally, it presents as an intra-parenchymal hematoma following rupture of the affected vessels. The risk of rupture is linked to the volume of the malformation, its cortical location and venous drainage. In literature, few cases of rupture have been reported in cases of meningitis, but none are associated with a brain abscess. Objective: To report a case of an intraparenchymal hemorrhage due to rupture of an arteriovenous malformation with an associated brain abscess. Observation: The authors report the case of a 2-year-old child, admitted for impaired state of consciousness associated with a right hemiparesis and seizures in a febrile context. Clinical evaluation revealed a Blantyre score of 3, fever at 40˚C, divergent strabismus of the right eye, a right pyramidal syndrome and meningeal irritative syndrome. Cerebral CT scan revealed a left fronto-parietal intra-parenchymal hematoma and a right occipital ring-enhanced lesion, suggesting a brain abscess. An MRI suggested a probable rupture of an arteriovenous malformation resulting in the intra-parenchymal hematoma. Management consisted of craniotomy to evacuate the intra-parenchymal hematoma, antibiotic therapy with vancomycin and ceftriaxone at meningeal doses. Histopathological analysis of the intraoperative sample revealed an arteriovenous malformation. The postoperative course was marked by regression of hyperthermia, persistence of spasticity, irritability and clonic movement of the right lower limb. These were managed with baclofen, phenobarbital, and ergotherapy. We observed a regression of spasticity and improved motor skills in the right limbs. At 6 months follow-up, child could interact with his social environment despite aphasia, regression of spasticity and right hemiparesis. Conclusion: Rupture of arteriovenous malformations can be enhanced by neuro-meningeal infections and particularly brain abscesses. Cerebrovascular complications of these conditions mostly have unfavorable outcomes and neurological sequelae.展开更多
Background:Despite the efficacy of absolute ethanol(EtOH),its radiolucency introduces several risks in interventional therapy for treating vascular malformations.This study aims to develop a novel radiopaque ethanol i...Background:Despite the efficacy of absolute ethanol(EtOH),its radiolucency introduces several risks in interventional therapy for treating vascular malformations.This study aims to develop a novel radiopaque ethanol injection(REI)to address this issue.Methods:Iopromide is mixed with ethanol to achieve radiopacity and improve the physicochemical properties of the solution.Overall,82 male New Zealand white rabbits are selected for in vivo radiopacity testing,peripheral vein sclerosis[animals were divided into the following 5 groups(n=6):negative control(NC,saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),low-dose REI(L-D REI,0.125 ml/kg),moderate-dose REI(M-D REI,0.250 ml/kg),and highdose REI(H-D REI 0.375 ml/kg)],pharmacokinetic analyses(the blood sample was harvested before injection,5 min,10 min,20 min,40 min,1 h,2 h,4 h,and 8 h after injection in peripheral vein sclerosis experiment),peripheral artery embolization[animals were divided into the following 5 groups(n=3):NC(saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)],kidney transcatheter arterial embolization[animals were divided into the following 4 groups(n=3):positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg);each healthy kidney was injected with saline as negative control],and biosafety evaluations[animals were divided into the following 5 groups(n=3):NC(0.250 ml/kg),high-dose EtOH(0.375 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)].Then,a prospective cohort study involving 6 patients with peripheral venous malformations(VMs)is performed to explore the clinical safety and effectiveness of REI.From Jun 1,2023 to August 31,2023,6 patients[age:(33.3±17.2)years]with lingual VMs received sclerotherapy of REI and 2-month follow-up.Adverse events and serious adverse events were evaluated,whereas the efficacy of REI was determined by both the traceability of the REI under DSA throughout the entire injection and the therapeutic effect 2 months after a single injection.Results:The REI contains 81.4%ethanol(v/v)and 111.3 mg/ml iodine,which can be traced throughout the injection in the animals and patients.The REI also exerts a similar effect as EtOH on peripheral venous sclerosis,peripheral arterial embolization,and renal embolization.Furthermore,the REI can be metabolized at a similar rate compared to EtOH and Ultravist^(®)and did not cause injury to the animals’heart,liver,spleen,lungs,kidneys and brain.No REIrelated adverse effects have occurred during sclerotherapy of VMs,and 4/6 patients(66.7%)have achieved complete response at follow-up.Conclusion:In conclusion,REI is safe,exerts therapeutic effects,and compensates for the radiolucency of EtOH in treating VMs.Trial registration:The clinical trial was registered as No.ChiCTR2300071751 on May 242023.展开更多
Human cytomegalovirus(HCMV)poses a significant risk of neural damage during pregnancy.As the most prevalent intrauterine infectious agent in low-and middle-income countries,HCMV disrupts the development of neural stem...Human cytomegalovirus(HCMV)poses a significant risk of neural damage during pregnancy.As the most prevalent intrauterine infectious agent in low-and middle-income countries,HCMV disrupts the development of neural stem cells,leading to fetal malformations and abnormal structural and physiological functions in the fetal brain.This review summarizes the current understanding of how HCMV infection dysregulates the Wnt signaling pathway to induce fetal malformations and discusses current management strategies.展开更多
Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetus...Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetuses[1],and there has been no relevant literature mentioning the prenatal finding DAA in Macao till now.展开更多
Hemoptysis is defined as bleeding originating from the respiratory tract distal to the larynx and is associated with a wide spectrum of underlying conditions,including bronchiectasis,pulmonary malignancies,tuberculosi...Hemoptysis is defined as bleeding originating from the respiratory tract distal to the larynx and is associated with a wide spectrum of underlying conditions,including bronchiectasis,pulmonary malignancies,tuberculosis,aspergillosis,and vascular malformations.^([1-3]) A metaanalysis involving patients with massive hemoptysis reported a mortality rate of 3.5%.^([4])This underscores the critical importance of prompt and eff ective embolization of the responsible artery to improve outcomes,particularly in patients presenting with life-threatening hemoptysis.展开更多
A 14-year-old presented with an asymptomatic left testicular mass after a brief episode of pain.Examination showed a non-tender left testis that was significantly larger than the right.Ultrasound revealed a 4.5-cm ava...A 14-year-old presented with an asymptomatic left testicular mass after a brief episode of pain.Examination showed a non-tender left testis that was significantly larger than the right.Ultrasound revealed a 4.5-cm avascular mass and an absence of normal testicular parenchyma.Tumor markers were unremarkable.A CT scan demonstrated no lymphadenopathy but identified a prominent left spermatic cord.Due to a suspicion of chronic torsion vs.malignancy,a left radical orchiectomy was performed.Pathology identified a hemorrhagic paratesticular venous malformation without signs of germ cell neoplasia,a rare entity.展开更多
Objective:The aims of this study were to investigate the clinical applicability of 3D segmentation in measuring cochlear anatomical parameters,explore factors that influence the insertion angle of cochlear implant ele...Objective:The aims of this study were to investigate the clinical applicability of 3D segmentation in measuring cochlear anatomical parameters,explore factors that influence the insertion angle of cochlear implant electrodes in patients with inner ear malformations,and determine the value of 3D segmentation in predicting cochlear implant electrode insertion depth by simulating electrode implantation in a reconstructed 3D model.Methods:Data from 208 temporal bone CT scans of patients with a variety of inner ear malformations(including the CH,IP-Ⅰ,IP-Ⅱ,and IP-Ⅲtypes)who underwent cochlear implantation at our center were retrospectively analyzed.Preoperative temporal bone CT data were subjected to three-dimensional(3D)segmentation of the cochlea with a 3D slicer.Results:Cochlear malformation types,including IP typesⅠ(42 ears),Ⅱ(278ears),Ⅲ(20 ears),and CH(65 ears),were diagnosed and measured in 208 preoperative CT datasets.Cochlear anatomical parameters and electrode length were correlated,which partially explained the variations in electrode insertion angle.The mean angle of implantation among the enrolled patients was 564.33°,and the mean implantation angle prediction error in the 3D segmentation was|23.74|°.Conclusion:Three-dimensional segmentation from temporal bone CT is valuable for surgeons,especially in treating patients with inner ear malformation.Such insights will help surgeons understand overall anatomical variations,predict electrode implantation depth,and complete preoperative imaging assessments for cochlear implant insertion depth in patients with inner ear malformations.展开更多
Dear Editor,Sturge-Weber Syndrome(SWS)is a rare congenital neurocutaneous syndrome[1,2],with an estimated prevalence of 0.19 in 100,000 annually[3].It is a non-hereditary disease linked to a somatic mutation in the GN...Dear Editor,Sturge-Weber Syndrome(SWS)is a rare congenital neurocutaneous syndrome[1,2],with an estimated prevalence of 0.19 in 100,000 annually[3].It is a non-hereditary disease linked to a somatic mutation in the GNAQ,GNA11,or GNB2 gene[1],leading to vascular malformations in the cutaneous forehead,cerebral cortex,and eye[1,2].Notably,~70%of pediatric patients diagnosed with SWS exhibit brain calcification(BC)[4],though the prevalence of BC ranges from only 1%in young individuals to>20%in the senior population(>60 years old)[5].Similar to the elderly,BC in pediatric SWS patients is identified as vascular calcification[6,7],whereas BC in pediatric patients with tuberous sclerosis and tumors has been previously described as dystrophic calcification[6].展开更多
As the study of vascular anomalies progresses,it is imperative for plastic surgeons to individualize their in-depth research and practice to develop more effective and personalized treatment plans.Recent advancements ...As the study of vascular anomalies progresses,it is imperative for plastic surgeons to individualize their in-depth research and practice to develop more effective and personalized treatment plans.Recent advancements in genome sequencing technology have highlighted the importance of vascular endothelial growth factor(VEGF)and its receptor(VEGFR)in the formation and alteration of vascularity.However,definitive reports regarding mutations associated with this locus and treatment experiences remain scarce.Herein,we report a clinical case of multiple venous malformations with mutations in VEGFR3(FLT4).We implemented a comprehensive approach,including local lesion excision of the left foot and trunk,oral propranolol administration,and local physiotherapy.After two years of follow-up,the patient’s left foot venous malformation did not recur,and he expressed satisfaction with the outcomes of the combined therapy.This case offers valuable insights into the clinical management of this mutant type and similar presentations of multiple venous malformations.展开更多
文摘Interspecific crossing was carried out among and between two strains of Clarias gariepinus with mouth malformation and crooked-back traits to determine the source（s） of their deformities and the effects of these morphological deformities on their growth and survival. Synthetic ovaprim hormone was used for their inducement at 0.5 mL/kg of the brood stock body weight at FEDAK integrated farm, Ado-Ekiti, Nigeria. Under indoor management, highest mean survival rate was 73% recorded in the hybrid of female mouth malformed C. gariepinus x male crooked back C. gariepinus and the least mean survival rate was 70% recorded in the mouth malformed C. gariepinus parental. Under outdoor rearing crooked back C. gariepinus parental had the highest mean growth rate （11.20 grammes） while the hybrid of the cross between female crooked back C. gariepinus and male with mouth malformed C. gariepinus had the least mean growth rate （8.63 grammes）. High frequency of occurrence of various morphological aberrations （0.92%） was recorded in the mouth malformed C. gariepinus parental and low frequency of occurrence （0.57%） of morphological aberrations recorded in hybrid of female crooked back C. gariepinus x male mouth malformed C. gariepinus. The reoccurrence of some of these morphological deformities in Clarias is a mystery based on their consistent occurrence even under a very good hatchery management. More research works still need to be done in this area of study of Clarias to unravel the mystery behind this morphological imbalance, because the deformities play special roles in discouraging both the farmers and the consumers of this fish.
文摘Objective: To report a scala tympani drill-out technique for managing malformed facial nerve covering the entire oval window(OW).Methods: Data from three cases with OW atresia, malformed stapes and abnormal facial nerve courses were reported, in which a scala tympani drill-out technique was employed with a TORP between the tympanic membrane and scala tympani fenestration for hearing reconstruction.Results: Air conduction hearing improved in two of the three cases following surgery. In the third case, there was no improvement in air conduction hearing following a canal wall up mastoidectomy and tympanoplasty. There were no vertigo, tinnitus or sensorineural hearing loss in the three cases.Conclusion: The scala tympani drill-out technique, which is basically fenestration at the initial part of the basal turn, provides a choice in hearing reconstruction when the OW is completely covered by abarrently coursed facial nerve.
文摘The prevalence of Class Ⅲ malocclusion varies among different countries and regions. The populations from Southeast Asian countries (Chinese and Malaysian) showed the highest prevalence rate of 15.8%, which can seriously affect oral function, facial appearance, and mental health. As anterior crossbite tends to worsen with growth, early orthodontic treatment can harness growth potential to normalize maxillofacial development or reduce skeletal malformation severity, thereby reducing the difficulty and shortening the treatment cycle of later-stage treatment. This is beneficial for the physical and mental growth of children. Therefore,early orthodontic treatment for Class Ⅲ malocclusion is particularly important. Determining the optimal timing for early orthodontic treatment requires a comprehensive assessment of clinical manifestations, dental age, and skeletal age, and can lead to better results with less effort. Currently, standardized treatment guidelines for early orthodontic treatment of Class Ⅲ malocclusion are lacking. This review provides a comprehensive summary of the etiology, clinical manifestations, classification, and early orthodontic techniques for Class Ⅲ malocclusion, along with systematic discussions on selecting early treatment plans. The purpose of this expert consensus is to standardize clinical practices and improve the treatment outcomes of Class Ⅲ malocclusion through early orthodontic treatment.
文摘This article provides a detailed account of the diagnosis and treatment of a case involving a uterine artery pseudoaneurysm(UAP),as well as an analysis of UAP etiology.This finding emphasizes that UAP should be considered in patients presenting with abnormal genital bleeding after hysteroscopy and offers valuable insights and lessons for gynecologists in hysteroscopic procedures.The patient underwent timely relevant examinations to confirm the diagnosis,allowing for crucial time required for her treatment.In this study,the primary cause of UAP formation in the patient was attributed to a prior hysteroscopic surgical procedure conducted at another medical facility,suggesting that the selection and imple-mentation of dilatation catheters are some of the predisposing factors for UAP.In conclusion,this case study offers a comprehensive analysis of the etiology of UAP and effectively provides timely diagnosis and treatment,offering valuable in-sights for the clinical diagnosis and management of UAP.
文摘In this article,we comment on the paper by Kakinuma et al published recently.We focus specifically on the diagnosis of uterine pseudoaneurysm,but we also review other uterine vascular anomalies that may be the cause of life-threating hemorrhage and the different causes of uterine pseudoaneurysms.Uterine artery pseudoaneurysm is a complication of both surgical gynecological and nontraumatic procedures.Massive hemorrhage is the consequence of the rupture of the pseudoaneurysm.Uterine artery pseudoaneurysm can develop after obstetric or gynecological procedures,being the most frequent after cesarean or vaginal deliveries,curettage and even during pregnancy.However,there are several cases described unrelated to pregnancy,such as after conization,hysteroscopic surgery or laparoscopic myomectomy.Hemorrhage is the clinical manifestation and it can be life-threatening so suspicion of this vascular lesion is essential for early diagnosis and treatment.However,there are other uterine vascular anomalies that may be the cause of severe hemorrhage,which must be taken into account in the differential diagnosis.Computed tomography angiography and embolization is supposed to be the first therapeutic option in most of them.
基金support from the following grants:the Natural Science Foundation of Beijing Municipality(7242149,L202034,7244416)the E-Town Cooperation&Development Foundation(YCXJ-JZ-2023-017)+3 种基金the National Natural Science Foundation of China(82171694,81901155)National High Level Hospital Clinical Research Funding(High Quality Clinical Research Project of Peking University First Hospital)(23cz020202)National High Level Hospital Clinical Research Funding(Youth Clinical Research Project of Peking University First Hospital)(2023YC19)National High Level Hospital Clinical Research Funding(Scientific Research Seed Fund of Peking University First Hospital)(2023SF42).
文摘Malformations of cortical development(MCDs)represent one of the most common causes of childhood-onset epilepsy,and are often refractory to antiseizure medications(Guerrini,2006;Guerrini and Dobyns,2014;Severino et al.,2020).Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy(MOGHE)is a newly recognized subtype of Focal Cortical Dysplasia(FCD),which was officially added to the FCD classification in 2022 by the International League Against Epilepsy(ILAE)(Najm et al.,2022).
文摘Developmental venous anomalies(DVAs)are benign congenital veins that collect normal brain drainage into a single outlet.Cerebral cavernous malformations(CMs)are clusters of thin-walled capillary cavities prone to bleeding.When both lesions coexist,the DVA’s altered venous pressure and flow can promote CM formation or rupture.Detecting a DVA abutting an otherwise unexplained intracerebral hemorrhage can therefore raise suspicion of an occult CM as a likely cause,a clue which may be invaluable for daily clinical practice.The main focus of this review is to acknowledge the hallmark imaging appearances of DVAs and CMs,as well as their coexistence,explore the clinical consequences of mixed lesions,and emphasize that recognizing their partnership is vital for an accurate,timely diagnosis and appropriately targeted management.
基金support in this study.This work was supported by the National Natural Science Foundation of China(82271889,82172105)the National Key Research and Development Program of China(2021YFC2701000)Shanghai Natural Science Foundation(23ZR1409400,24ZR1409400).
文摘Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).With a prevalence of 3.8/100,000(Barisic et al.,2014),CFM is the second most common congenital craniofacial abnormality(Li et al.,2022;Luo et al.,2023).Most cases are sporadic,but familial ones suggest autosomal dominant(AD)or autosomal recessive(AR)(Beleza-Meireles et al.,2014).In 2023,Quiat et al.and Mao et al.successively identified FOXI3 variants in 16 pedigrees and 10 sporadic cases,respectively,accounting for 3.1%of CFM cases(Mao et al.,2023;Quiat et al.,2023).FOX/3 has surpassed SF3B2 as the most frequently identified pathogenic gene for CFM to date(Timberlake et al.,2021;Mao et al.,2023;Quiat et al.,2023).In this study,we performed whole-exome sequencing(WES)on 201 CFM pedigrees and detected FOX/3 variants in 8 AD-inherited pedigrees with 24 patients and 28 unaffected individuals(Fig.1A).
基金Supported by National Key Research and Development Project,No.2022YFC2503603and 985th Hospital Research Project,No.YN202405.
文摘Congenital gastric ectopic pylorus(CGEP),also known as gastric ectopic pyloric opening,is a rare congenital gastric abnormality.It was first reported and termed by Yu and Zhao from China in 1983,and in 2007,Uraz et al published the first report of CGEP in the English literature.We conducted a systemic review of the literature of CGEP published in English or Chinese,and found that CGEP occurred more frequently in the 6th and 7th decade of life,with a male predominance(89.7%).The majority of reported cases(89.2%)were from East Asia,and the underlying mechanism remains unknown.Most patients with CGEP presented non-specific symptoms,including abdominal pain,bloating,regurgitation,and belching.A few patients(30%)experienced upper gastrointestinal bleeding.Given the non-specific symptoms,misdiagnosis or underdiagnosis often occurs.Gastroscopy and upper gastrointestinal radiography are the main examinations used to confirm the diagnosis.Currently,conservative medication is the mainstay treatment.In this systematic review,we describe the history,etiology,diagnosis and treatment of CGEP in detail,aiming to provide a comprehensive understanding of this rare disease and avoid misdiagnosis.
文摘Introduction: Arteriovenous malformation is a rare pathology, often discovered accidentally in children. Generally, it presents as an intra-parenchymal hematoma following rupture of the affected vessels. The risk of rupture is linked to the volume of the malformation, its cortical location and venous drainage. In literature, few cases of rupture have been reported in cases of meningitis, but none are associated with a brain abscess. Objective: To report a case of an intraparenchymal hemorrhage due to rupture of an arteriovenous malformation with an associated brain abscess. Observation: The authors report the case of a 2-year-old child, admitted for impaired state of consciousness associated with a right hemiparesis and seizures in a febrile context. Clinical evaluation revealed a Blantyre score of 3, fever at 40˚C, divergent strabismus of the right eye, a right pyramidal syndrome and meningeal irritative syndrome. Cerebral CT scan revealed a left fronto-parietal intra-parenchymal hematoma and a right occipital ring-enhanced lesion, suggesting a brain abscess. An MRI suggested a probable rupture of an arteriovenous malformation resulting in the intra-parenchymal hematoma. Management consisted of craniotomy to evacuate the intra-parenchymal hematoma, antibiotic therapy with vancomycin and ceftriaxone at meningeal doses. Histopathological analysis of the intraoperative sample revealed an arteriovenous malformation. The postoperative course was marked by regression of hyperthermia, persistence of spasticity, irritability and clonic movement of the right lower limb. These were managed with baclofen, phenobarbital, and ergotherapy. We observed a regression of spasticity and improved motor skills in the right limbs. At 6 months follow-up, child could interact with his social environment despite aphasia, regression of spasticity and right hemiparesis. Conclusion: Rupture of arteriovenous malformations can be enhanced by neuro-meningeal infections and particularly brain abscesses. Cerebrovascular complications of these conditions mostly have unfavorable outcomes and neurological sequelae.
基金supported by the Transverse Research Project of Shanghai Ninth People’s Hospital(JYHX2022007)the Clinical Research Program of Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine(JYLJ202111).
文摘Background:Despite the efficacy of absolute ethanol(EtOH),its radiolucency introduces several risks in interventional therapy for treating vascular malformations.This study aims to develop a novel radiopaque ethanol injection(REI)to address this issue.Methods:Iopromide is mixed with ethanol to achieve radiopacity and improve the physicochemical properties of the solution.Overall,82 male New Zealand white rabbits are selected for in vivo radiopacity testing,peripheral vein sclerosis[animals were divided into the following 5 groups(n=6):negative control(NC,saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),low-dose REI(L-D REI,0.125 ml/kg),moderate-dose REI(M-D REI,0.250 ml/kg),and highdose REI(H-D REI 0.375 ml/kg)],pharmacokinetic analyses(the blood sample was harvested before injection,5 min,10 min,20 min,40 min,1 h,2 h,4 h,and 8 h after injection in peripheral vein sclerosis experiment),peripheral artery embolization[animals were divided into the following 5 groups(n=3):NC(saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)],kidney transcatheter arterial embolization[animals were divided into the following 4 groups(n=3):positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg);each healthy kidney was injected with saline as negative control],and biosafety evaluations[animals were divided into the following 5 groups(n=3):NC(0.250 ml/kg),high-dose EtOH(0.375 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)].Then,a prospective cohort study involving 6 patients with peripheral venous malformations(VMs)is performed to explore the clinical safety and effectiveness of REI.From Jun 1,2023 to August 31,2023,6 patients[age:(33.3±17.2)years]with lingual VMs received sclerotherapy of REI and 2-month follow-up.Adverse events and serious adverse events were evaluated,whereas the efficacy of REI was determined by both the traceability of the REI under DSA throughout the entire injection and the therapeutic effect 2 months after a single injection.Results:The REI contains 81.4%ethanol(v/v)and 111.3 mg/ml iodine,which can be traced throughout the injection in the animals and patients.The REI also exerts a similar effect as EtOH on peripheral venous sclerosis,peripheral arterial embolization,and renal embolization.Furthermore,the REI can be metabolized at a similar rate compared to EtOH and Ultravist^(®)and did not cause injury to the animals’heart,liver,spleen,lungs,kidneys and brain.No REIrelated adverse effects have occurred during sclerotherapy of VMs,and 4/6 patients(66.7%)have achieved complete response at follow-up.Conclusion:In conclusion,REI is safe,exerts therapeutic effects,and compensates for the radiolucency of EtOH in treating VMs.Trial registration:The clinical trial was registered as No.ChiCTR2300071751 on May 242023.
基金supported by the Natural Science Foundation of Shandong Province(ZR2019MC059)the Traditional Chinese Medicine Science Project of Shandong Province(M-2023093)the Weifang Municipal Science and Technology Development Program(2025YX037).
文摘Human cytomegalovirus(HCMV)poses a significant risk of neural damage during pregnancy.As the most prevalent intrauterine infectious agent in low-and middle-income countries,HCMV disrupts the development of neural stem cells,leading to fetal malformations and abnormal structural and physiological functions in the fetal brain.This review summarizes the current understanding of how HCMV infection dysregulates the Wnt signaling pathway to induce fetal malformations and discusses current management strategies.
文摘Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetuses[1],and there has been no relevant literature mentioning the prenatal finding DAA in Macao till now.
文摘Hemoptysis is defined as bleeding originating from the respiratory tract distal to the larynx and is associated with a wide spectrum of underlying conditions,including bronchiectasis,pulmonary malignancies,tuberculosis,aspergillosis,and vascular malformations.^([1-3]) A metaanalysis involving patients with massive hemoptysis reported a mortality rate of 3.5%.^([4])This underscores the critical importance of prompt and eff ective embolization of the responsible artery to improve outcomes,particularly in patients presenting with life-threatening hemoptysis.
基金VMR is funded by the AUA and Urology Care Foundation(Research Scholars Award)as well as an NIH NRSA training grant(5T32DK060442-20)HT is funded by the AUA and Urology Care Foundation(Research Scholars Award),SUFU(Chemodenervation Grant),and the Office of Faculty Development at Harvard Medical School.
文摘A 14-year-old presented with an asymptomatic left testicular mass after a brief episode of pain.Examination showed a non-tender left testis that was significantly larger than the right.Ultrasound revealed a 4.5-cm avascular mass and an absence of normal testicular parenchyma.Tumor markers were unremarkable.A CT scan demonstrated no lymphadenopathy but identified a prominent left spermatic cord.Due to a suspicion of chronic torsion vs.malignancy,a left radical orchiectomy was performed.Pathology identified a hemorrhagic paratesticular venous malformation without signs of germ cell neoplasia,a rare entity.
基金supported by the National Key Research and Development Program of China(grant no.2022YFC2402705)National Municipal Natural Science Foundation(grant no.82471161)Beijing Municipal Natural Science Foundation(grant no.7244308)。
文摘Objective:The aims of this study were to investigate the clinical applicability of 3D segmentation in measuring cochlear anatomical parameters,explore factors that influence the insertion angle of cochlear implant electrodes in patients with inner ear malformations,and determine the value of 3D segmentation in predicting cochlear implant electrode insertion depth by simulating electrode implantation in a reconstructed 3D model.Methods:Data from 208 temporal bone CT scans of patients with a variety of inner ear malformations(including the CH,IP-Ⅰ,IP-Ⅱ,and IP-Ⅲtypes)who underwent cochlear implantation at our center were retrospectively analyzed.Preoperative temporal bone CT data were subjected to three-dimensional(3D)segmentation of the cochlea with a 3D slicer.Results:Cochlear malformation types,including IP typesⅠ(42 ears),Ⅱ(278ears),Ⅲ(20 ears),and CH(65 ears),were diagnosed and measured in 208 preoperative CT datasets.Cochlear anatomical parameters and electrode length were correlated,which partially explained the variations in electrode insertion angle.The mean angle of implantation among the enrolled patients was 564.33°,and the mean implantation angle prediction error in the 3D segmentation was|23.74|°.Conclusion:Three-dimensional segmentation from temporal bone CT is valuable for surgeons,especially in treating patients with inner ear malformation.Such insights will help surgeons understand overall anatomical variations,predict electrode implantation depth,and complete preoperative imaging assessments for cochlear implant insertion depth in patients with inner ear malformations.
基金supported by the Natural Science Foundation of Guangdong Province(2022A1515010297)the National Natural Science Foundation of China(32100765)+1 种基金the Xiamen Medical Health Science and Technology Project(3502Z20194098)the Shenzhen-Hong Kong-Macao Science and Technology Innovation Project(SGDX2020110309280100).
文摘Dear Editor,Sturge-Weber Syndrome(SWS)is a rare congenital neurocutaneous syndrome[1,2],with an estimated prevalence of 0.19 in 100,000 annually[3].It is a non-hereditary disease linked to a somatic mutation in the GNAQ,GNA11,or GNB2 gene[1],leading to vascular malformations in the cutaneous forehead,cerebral cortex,and eye[1,2].Notably,~70%of pediatric patients diagnosed with SWS exhibit brain calcification(BC)[4],though the prevalence of BC ranges from only 1%in young individuals to>20%in the senior population(>60 years old)[5].Similar to the elderly,BC in pediatric SWS patients is identified as vascular calcification[6,7],whereas BC in pediatric patients with tuberous sclerosis and tumors has been previously described as dystrophic calcification[6].
基金supported by the National Natural Science Foundation of China(grant no.82272891).
文摘As the study of vascular anomalies progresses,it is imperative for plastic surgeons to individualize their in-depth research and practice to develop more effective and personalized treatment plans.Recent advancements in genome sequencing technology have highlighted the importance of vascular endothelial growth factor(VEGF)and its receptor(VEGFR)in the formation and alteration of vascularity.However,definitive reports regarding mutations associated with this locus and treatment experiences remain scarce.Herein,we report a clinical case of multiple venous malformations with mutations in VEGFR3(FLT4).We implemented a comprehensive approach,including local lesion excision of the left foot and trunk,oral propranolol administration,and local physiotherapy.After two years of follow-up,the patient’s left foot venous malformation did not recur,and he expressed satisfaction with the outcomes of the combined therapy.This case offers valuable insights into the clinical management of this mutant type and similar presentations of multiple venous malformations.
