The most accurate and practical imaging algorithm for the diagnosis of intestinal malrotation can be a complex and sometimes controversial topic.Since 1900,sig-nificant advances have been made in the radiographic asse...The most accurate and practical imaging algorithm for the diagnosis of intestinal malrotation can be a complex and sometimes controversial topic.Since 1900,sig-nificant advances have been made in the radiographic assessment of infants and children suspected to have anomalies of intestinal rotation.We describe the cur-rent methods of abdominal imaging of malrotation along with their pros and cons.When associated with volvulus,malrotation is a true surgical emergency re-quiring rapid diagnosis and treatment.We emphasize the importance of close cooperation and communica-tion between radiology and surgery to perform an effective and efficient diagnostic evaluation allowing prompt surgical decision making.展开更多
Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system （ENS）, although data in humans are lacking. We here describe the first case of enteric deg...Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system （ENS）, although data in humans are lacking. We here describe the first case of enteric degenerative neuropathy related to a congenital obstruction of the gut. A 3-year and 9-mo old girl began to complain of vomiting, abdominal distension, constipation with air-fluid levels at plane abdominal radiology. Her subsequent medical history was characterized by 3 operations： the first showed dilated duodeno-jejunal loops in the absence of occlusive lesions; the second （2 years later） was performed to obtain full-thickness biopsies of the dilated intestinal loops and revealed hyperganglionosis at histopathology; the third （9 years after the hyperganglionosis was identified） disclosed a Ladd＇s band which was removed and the associated gut malrotation was corrected. Repeated intraoperative full-thickness biopsies showed enteric degenerative neuropathy along with reduced interstitial cells of Cajal network in dilated loops above the obstruction and a normal neuromuscular layer below the Ladd＇s band. One year after the latest surgery the patient tolerated oral feeding and did well, suggesting that congenital （partial） mechanical obstruction of the small bowel in humans can evoke progressive adaptive changes of the ENS which are similar to those found in animal models of intestinal mechanical occlusion. Such ENS changes mimic neuronal abnormalities observed in intestinal pseudoobstruction.展开更多
AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundatio...AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.METHODS:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all participants.The family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was extracted.Pathogenic genes were screened via whole exome sequencing(WES)and confirmed using Sanger sequencing.RESULTS:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb deformities.This pattern indicates autosomal dominant inheritance.Diagnosis was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(p.Trp79Leus*15),was identified in all patients via WES.The variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation guidelines.CONCLUSION:A novel frameshift mutation in the FGF10 gene is found in all patients.This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.展开更多
AIM:To investigate and describe our current institutional management protocol for single-ventricle patients who must undergo a Ladd's procedure.METHODS:We retrospectively reviewed the charts of all patients from J...AIM:To investigate and describe our current institutional management protocol for single-ventricle patients who must undergo a Ladd's procedure.METHODS:We retrospectively reviewed the charts of all patients from January 2005 to March 2014 who were diagnosed with heterotaxy syndrome and an associated intestinal rotation anomaly who carried a cardiac diagnosis of functional single ventricle and were status post stage I palliation.A total of 8 patients with a history of stage I single-ventricle palliation underwent Ladd's procedure during this time period.We reviewed each patients chart to determine if significant intraoperative or post-operative morbidity or mortality occurred.We also described our protocolized management of these patients in the cardiac intensive care unit,which included pre-operative labs,echocardiography,milrinone infusion,as well as protocolized fluid administration and anticoagulation regimines.We also reviewed the literature to determine the reported morbidity and mortality associated with the Ladd's procedure in this particular cardiac physiology and if other institutions have reported protocolized care of these patients.RESULTS:A total of 8 patients were identified to have heterotaxy with an intestinal rotation anomaly and single-ventricle heart disease that was status post single ventricle palliation.Six of these patients were palliated with a Blaylock-Taussig shunt,one of whom underwent a Norwood procedure.The two other patients were palliated with a stent,which was placed in the ductus arteriosus.These eight patients all underwent elective Ladd's procedure at the time of gastrostomy tube placement.Per our protocol,all patients remained on aspirin prior to surgery and had no period where they were without anticoagulation.All patients remained on milrinone during and after the procedure and received fluid administration upon arrival to the cardiac intensive care unit to account for losses.All 8 patients experienced no intraoperative or post-operative complications.All patients survived to 展开更多
文摘The most accurate and practical imaging algorithm for the diagnosis of intestinal malrotation can be a complex and sometimes controversial topic.Since 1900,sig-nificant advances have been made in the radiographic assessment of infants and children suspected to have anomalies of intestinal rotation.We describe the cur-rent methods of abdominal imaging of malrotation along with their pros and cons.When associated with volvulus,malrotation is a true surgical emergency re-quiring rapid diagnosis and treatment.We emphasize the importance of close cooperation and communica-tion between radiology and surgery to perform an effective and efficient diagnostic evaluation allowing prompt surgical decision making.
基金Supported by the Italian Ministry of Education, University and Research (CCOFIN Project No. 2004062155 to RDeG,2004055120 to GB and 2003064378 to RDeG, GB and VS)
文摘Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system （ENS）, although data in humans are lacking. We here describe the first case of enteric degenerative neuropathy related to a congenital obstruction of the gut. A 3-year and 9-mo old girl began to complain of vomiting, abdominal distension, constipation with air-fluid levels at plane abdominal radiology. Her subsequent medical history was characterized by 3 operations： the first showed dilated duodeno-jejunal loops in the absence of occlusive lesions; the second （2 years later） was performed to obtain full-thickness biopsies of the dilated intestinal loops and revealed hyperganglionosis at histopathology; the third （9 years after the hyperganglionosis was identified） disclosed a Ladd＇s band which was removed and the associated gut malrotation was corrected. Repeated intraoperative full-thickness biopsies showed enteric degenerative neuropathy along with reduced interstitial cells of Cajal network in dilated loops above the obstruction and a normal neuromuscular layer below the Ladd＇s band. One year after the latest surgery the patient tolerated oral feeding and did well, suggesting that congenital （partial） mechanical obstruction of the small bowel in humans can evoke progressive adaptive changes of the ENS which are similar to those found in animal models of intestinal mechanical occlusion. Such ENS changes mimic neuronal abnormalities observed in intestinal pseudoobstruction.
基金Supported by the Capital’s Funds for Health Improvement and Research (No.CFH.2020-2Z-5132)。
文摘AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.METHODS:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all participants.The family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was extracted.Pathogenic genes were screened via whole exome sequencing(WES)and confirmed using Sanger sequencing.RESULTS:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb deformities.This pattern indicates autosomal dominant inheritance.Diagnosis was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(p.Trp79Leus*15),was identified in all patients via WES.The variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation guidelines.CONCLUSION:A novel frameshift mutation in the FGF10 gene is found in all patients.This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.
文摘AIM:To investigate and describe our current institutional management protocol for single-ventricle patients who must undergo a Ladd's procedure.METHODS:We retrospectively reviewed the charts of all patients from January 2005 to March 2014 who were diagnosed with heterotaxy syndrome and an associated intestinal rotation anomaly who carried a cardiac diagnosis of functional single ventricle and were status post stage I palliation.A total of 8 patients with a history of stage I single-ventricle palliation underwent Ladd's procedure during this time period.We reviewed each patients chart to determine if significant intraoperative or post-operative morbidity or mortality occurred.We also described our protocolized management of these patients in the cardiac intensive care unit,which included pre-operative labs,echocardiography,milrinone infusion,as well as protocolized fluid administration and anticoagulation regimines.We also reviewed the literature to determine the reported morbidity and mortality associated with the Ladd's procedure in this particular cardiac physiology and if other institutions have reported protocolized care of these patients.RESULTS:A total of 8 patients were identified to have heterotaxy with an intestinal rotation anomaly and single-ventricle heart disease that was status post single ventricle palliation.Six of these patients were palliated with a Blaylock-Taussig shunt,one of whom underwent a Norwood procedure.The two other patients were palliated with a stent,which was placed in the ductus arteriosus.These eight patients all underwent elective Ladd's procedure at the time of gastrostomy tube placement.Per our protocol,all patients remained on aspirin prior to surgery and had no period where they were without anticoagulation.All patients remained on milrinone during and after the procedure and received fluid administration upon arrival to the cardiac intensive care unit to account for losses.All 8 patients experienced no intraoperative or post-operative complications.All patients survived to
