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 determine the 15-year outcomes of laser dacryoplasty(LDP)in patients with lacrimal duct obstruction;and to evaluate LDP combined with intubation using a new silicone tube to treat complicated cases.METHODS:Pati...AIM:To determine the 15-year outcomes of laser dacryoplasty(LDP)in patients with lacrimal duct obstruction;and to evaluate LDP combined with intubation using a new silicone tube to treat complicated cases.METHODS:Patients with lacrimal duct obstruction and treated with LDP between April 2000 and April 2005 were investigated retrospectively.Totally 116 eyes with completed 15-year follow-up records were included in this study.For complicated cases(52 eyes of 52 patients),both LDP and intubation using a self-made silicon tube were performed.For patients with uncomplicated obstruction(64 eyes of 61 patients),only LDP was performed.Outcomes were assessed based on results of lacrimal irrigation and degree of symptoms during follow-up.RESULTS:At the follow-up time of 15y,81 eyes achieved full success(69.8%);21 eyes got improved(18.1%);and 14 eyes were considered failure(12.1%).The success rate was 71.2%(37/52 eyes)for complicated cases;and 68.8%(44/64 eyes)for uncomplicated cases.No statistically significant difference between two groups was observed(P=0.961).No postoperative complication was observed.CONCLUSION:LDP is a well-tolerated,simple,and effective procedure with satisfactory long-term outcomes in selected patients,which make it a good alternative to conventional dacryocystorhinostomy.In addition,intubation with the self-made mono-canalicular silicone tube facilitates the management of complicated cases with few complications.展开更多
Objective: To study the effect of mitomycin (MMC) combined with Nd-YAG laser on cell proliferation and invasion as well as MEK/ERK signaling pathway in obstructive lacrimal duct model. Methods: New Zealand rabbits wer...Objective: To study the effect of mitomycin (MMC) combined with Nd-YAG laser on cell proliferation and invasion as well as MEK/ERK signaling pathway in obstructive lacrimal duct model. Methods: New Zealand rabbits were selected as experimental animals and divided into model group, laser group and MMC + laser group;obstructive lacrimal duct model was established, then laser group were given Nd-YAG laser intervention, and MMC + laser group were given Nd-YAG laser combined with mitomycin intervention. 2 months after intervention, the expression of proliferation molecules, invasion molecules and MEK-ERK signaling molecules in lacrimal duct tissue were measured. Results: TGF-β, CTGF, PCNA, Ki-67, Col-I, Col-III, MEK, ERK1/2, MMP2 and MMP9 protein levels in lacrimal duct tissue of laser group were significantly higher than those of model group while TSG-6, Cthrc1 and TIMP1 protein levels were significantly lower than those of model group;TGF-β, CTGF, PCNA, Ki-67, Col-I, Col-III, MEK, ERK1/2, MMP2 and MMP9 protein levels in lacrimal duct tissue of MMC + laser group were significantly lower than those of laser group while TSG-6, Cthrc1 and TIMP1 protein levels were significantly higher than those of laser group. Conclusion:Mitomycin can inhibit cell proliferation and invasion as well as MEK/ERK signaling pathway activation in obstructive lacrimal duct model after Nd-YAG laser treatment.展开更多
AIM: To compare the success rate of monocanalicular versus pushed monocanalicular silicone intubation(PMCI)of the nasolacrimal duct for congenital nasolacrimal duct obstruction(CNLDO).METHODS: In a prospective randomi...AIM: To compare the success rate of monocanalicular versus pushed monocanalicular silicone intubation(PMCI)of the nasolacrimal duct for congenital nasolacrimal duct obstruction(CNLDO).METHODS: In a prospective randomized clinical trial 53 eyes of 49 patients with CNLDO underwent either monocanalicular silicone intubation(MCI)(n =28 eyes) or PMCI(n =25 eyes). All procedures were performed by 1oculoplastic surgeon. Treatment success was defined as the complete resolution of epiphora at 3mo after tube removal.RESULTS: The surgical outcome was assessed in 20 eyes with MCI and 20 eyes with PMCI. The mean age of treatment was 26.25 ±10.08mo(range, 13-49mo) for MCI and 26.85±12.25mo(range, 16-68mo) for PMCI. Treatment success was achieved in 18 of 20 eyes(90.0%) in the MCI group compared with 10 of 20 eyes(50%) in the PMCI group(P =0.01). In the PMCI group, the tube loss(30%)was greater than the MCI group(5%), however the differences between the 2 groups proved to be not significant(P =0.91).CONCLUSION: Our results indicate that MCI has higher success rate in CNLDO treatment compared with PMCI in this small series of patients.展开更多
Objective： Injury and deficiency of the lacrimal duct epithelium （LDE） can lead to a variety of lacrimal diseases. The purpose of this study was to characterize potential candidate cells for constructing a tissue-e...Objective： Injury and deficiency of the lacrimal duct epithelium （LDE） can lead to a variety of lacrimal diseases. The purpose of this study was to characterize potential candidate cells for constructing a tissue-engineered LDE. Methods： Different areas of the conjunctiva and lacrimal duct tissue were removed from male adult New Zealand white rabbits for histological evaluation. Hematoxylin and eosin staining and immunohistochemical staining of cytokeratin AEI＋AE3, cytokeratin 4, Ki-67, and MUC5AC were observed by light microscopy. The surface morphologies of different epithelial tissues and cellular structures were examined using field-emission scanning electron microscopy and transmission electron microscopy. Epithelial cells were isolated from tissues and identified by specific markers. In vitro, proliferative ability and Western blot analyses of the proliferating cell nuclear antigen （PCNA） of different epithelial cells cultured in identical environments were investigated and compared. Results： Histologically, the epithelial specific markers, cytokeratin AEI＋AE3 and cytokeratin 4, were expressed in the conjunctiva epithelium and the LDE. Notably, highly proliferative cells stained with Ki-67 were concentrated under the epithelium in a dome structure of the posterior palpebral conjunctiva. Differentiated goblet cells were also found to a lesser extent in this region. Primary palpebral and fornical conjunctival epithelial cells （PFCECs）, bulbar conjunctival epithelial cells （BCECs）, and lacrimal duct epithelial cells （LDECs） were successfully separated from tissues. In vitro, rabbit PFCECs and LDECs grew faster and expressed more PCNA than BCECs. Conclusions： PFCECs are anatomically similar to LDECs. They also have similar morphological characteristics, immune phenotypes, and proliferation features. PFCECs are therefore potential candidate cells to replace LDECs in tissue engineering to treat lacrimal duct diseases.展开更多
AIM:To analyze cases of obstruction of the nasolacrimal duct which creates a fertile environment for secondary bacterial Infection and can result in dacryocystitis,which is a constant threat to cornea and orbital soft...AIM:To analyze cases of obstruction of the nasolacrimal duct which creates a fertile environment for secondary bacterial Infection and can result in dacryocystitis,which is a constant threat to cornea and orbital soft tissue and a potential source of endophthalmitis following intraocular surgery.The majority of obstructions of the lacrimal excretory outflow system are acquired ones occurring in adulthood and involving the distal parts of the system.Acquired obstruction may be primary/idiopathic or secondary to a wide variety of infectious,inflammatory,traumatic,mechanical,toxic or neoplastic causes mimicking idiopathic inflammation.These cases are treated by dacryocystorhinostomy(DCR).METHODS:The present study was conducted to determine the histopathologic,immunohistochemical and current microbiologic characteristics of lacrimal sac specimens in patients undergoing external dacryocystorhinostomy.RESULTS:Non-specific lacrimal sac pathology was present in all 33 cases and 81.8%of the cases showed moderate chronic inflammation with a chronic inflammatory score(CIS)ranging between 4 and 6,whereas 12.12%showed severe inflammatory changes with a CIS of 7.Mild degree of inflammation was seen in6.06%with a CIS of 3.The total prevalence of grampositive,gram-negative,and culture-negative samples were 59.4%,37.5%,and 3%respectively.CONCLUSION:Non-specific chronic inflammation withfibrosis is indeed the most commonly reported histopathological finding in lacrimal sac wall biopsy specimens.展开更多
BACKGROUND Nasolacrimal duct obstruction leading to epiphora is a common ophthalmologic complaint,and it may derive from amyloidosis in rare cases.There are a few reports about localized amyloidosis,and amyloidosis wi...BACKGROUND Nasolacrimal duct obstruction leading to epiphora is a common ophthalmologic complaint,and it may derive from amyloidosis in rare cases.There are a few reports about localized amyloidosis,and amyloidosis with involvement and obstruction of the nasolacrimal duct is exceedingly rare.CASE SUMMARY A 54-year-old male presented with a 2-year history of a lump overlying the left lacrimal sac that had grown rapidly for nearly half a year.Physical examination touched a firm lump in the left lacrimal sac.Nasal endoscopy discovered lesions in appearance of sediments with easy bleeding at the entry of the nasolacrimal duct of the left inferior nasal meatus.Computerized tomography scan revealed speckle high density in the left lacrimal sac and the dilated nasolacrimal duct.During an endoscopic exploration and excision,a large number of dacryoliths were exposed.Pathology indicated amorphous pink material and multinucleated giant cell reaction in the fibrous tissue.CONCLUSION This case showed amyloidosis in localized form mimicking dacryolith with nasolacrimal duct obstruction.In clinical practice,we should be aware of the possibility of localized amyloidosis in the nasolacrimal excretory system.展开更多
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.
基金Supported by the National Natural Science Foundation of China,Young Scientists Grant(No.81400380,No.82000862)the Fundamental Research Funds for the Central Universities of China(No.XJJ2014076,No.XZY012022117)+1 种基金Key Research and Development Program of Shaanxi,China(No.2023-YBSF-568,No.2021-SF156)the Integration Innovation Program of Xi’an Jiaotong University Health Science Center(No.YXJLRH2022037).
文摘AIM:To determine the 15-year outcomes of laser dacryoplasty(LDP)in patients with lacrimal duct obstruction;and to evaluate LDP combined with intubation using a new silicone tube to treat complicated cases.METHODS:Patients with lacrimal duct obstruction and treated with LDP between April 2000 and April 2005 were investigated retrospectively.Totally 116 eyes with completed 15-year follow-up records were included in this study.For complicated cases(52 eyes of 52 patients),both LDP and intubation using a self-made silicon tube were performed.For patients with uncomplicated obstruction(64 eyes of 61 patients),only LDP was performed.Outcomes were assessed based on results of lacrimal irrigation and degree of symptoms during follow-up.RESULTS:At the follow-up time of 15y,81 eyes achieved full success(69.8%);21 eyes got improved(18.1%);and 14 eyes were considered failure(12.1%).The success rate was 71.2%(37/52 eyes)for complicated cases;and 68.8%(44/64 eyes)for uncomplicated cases.No statistically significant difference between two groups was observed(P=0.961).No postoperative complication was observed.CONCLUSION:LDP is a well-tolerated,simple,and effective procedure with satisfactory long-term outcomes in selected patients,which make it a good alternative to conventional dacryocystorhinostomy.In addition,intubation with the self-made mono-canalicular silicone tube facilitates the management of complicated cases with few complications.
文摘Objective: To study the effect of mitomycin (MMC) combined with Nd-YAG laser on cell proliferation and invasion as well as MEK/ERK signaling pathway in obstructive lacrimal duct model. Methods: New Zealand rabbits were selected as experimental animals and divided into model group, laser group and MMC + laser group;obstructive lacrimal duct model was established, then laser group were given Nd-YAG laser intervention, and MMC + laser group were given Nd-YAG laser combined with mitomycin intervention. 2 months after intervention, the expression of proliferation molecules, invasion molecules and MEK-ERK signaling molecules in lacrimal duct tissue were measured. Results: TGF-β, CTGF, PCNA, Ki-67, Col-I, Col-III, MEK, ERK1/2, MMP2 and MMP9 protein levels in lacrimal duct tissue of laser group were significantly higher than those of model group while TSG-6, Cthrc1 and TIMP1 protein levels were significantly lower than those of model group;TGF-β, CTGF, PCNA, Ki-67, Col-I, Col-III, MEK, ERK1/2, MMP2 and MMP9 protein levels in lacrimal duct tissue of MMC + laser group were significantly lower than those of laser group while TSG-6, Cthrc1 and TIMP1 protein levels were significantly higher than those of laser group. Conclusion:Mitomycin can inhibit cell proliferation and invasion as well as MEK/ERK signaling pathway activation in obstructive lacrimal duct model after Nd-YAG laser treatment.
文摘AIM: To compare the success rate of monocanalicular versus pushed monocanalicular silicone intubation(PMCI)of the nasolacrimal duct for congenital nasolacrimal duct obstruction(CNLDO).METHODS: In a prospective randomized clinical trial 53 eyes of 49 patients with CNLDO underwent either monocanalicular silicone intubation(MCI)(n =28 eyes) or PMCI(n =25 eyes). All procedures were performed by 1oculoplastic surgeon. Treatment success was defined as the complete resolution of epiphora at 3mo after tube removal.RESULTS: The surgical outcome was assessed in 20 eyes with MCI and 20 eyes with PMCI. The mean age of treatment was 26.25 ±10.08mo(range, 13-49mo) for MCI and 26.85±12.25mo(range, 16-68mo) for PMCI. Treatment success was achieved in 18 of 20 eyes(90.0%) in the MCI group compared with 10 of 20 eyes(50%) in the PMCI group(P =0.01). In the PMCI group, the tube loss(30%)was greater than the MCI group(5%), however the differences between the 2 groups proved to be not significant(P =0.91).CONCLUSION: Our results indicate that MCI has higher success rate in CNLDO treatment compared with PMCI in this small series of patients.
基金supported by the Natural Science Foundation of Zhejiang Province(No.LY12H12009),China
文摘Objective： Injury and deficiency of the lacrimal duct epithelium （LDE） can lead to a variety of lacrimal diseases. The purpose of this study was to characterize potential candidate cells for constructing a tissue-engineered LDE. Methods： Different areas of the conjunctiva and lacrimal duct tissue were removed from male adult New Zealand white rabbits for histological evaluation. Hematoxylin and eosin staining and immunohistochemical staining of cytokeratin AEI＋AE3, cytokeratin 4, Ki-67, and MUC5AC were observed by light microscopy. The surface morphologies of different epithelial tissues and cellular structures were examined using field-emission scanning electron microscopy and transmission electron microscopy. Epithelial cells were isolated from tissues and identified by specific markers. In vitro, proliferative ability and Western blot analyses of the proliferating cell nuclear antigen （PCNA） of different epithelial cells cultured in identical environments were investigated and compared. Results： Histologically, the epithelial specific markers, cytokeratin AEI＋AE3 and cytokeratin 4, were expressed in the conjunctiva epithelium and the LDE. Notably, highly proliferative cells stained with Ki-67 were concentrated under the epithelium in a dome structure of the posterior palpebral conjunctiva. Differentiated goblet cells were also found to a lesser extent in this region. Primary palpebral and fornical conjunctival epithelial cells （PFCECs）, bulbar conjunctival epithelial cells （BCECs）, and lacrimal duct epithelial cells （LDECs） were successfully separated from tissues. In vitro, rabbit PFCECs and LDECs grew faster and expressed more PCNA than BCECs. Conclusions： PFCECs are anatomically similar to LDECs. They also have similar morphological characteristics, immune phenotypes, and proliferation features. PFCECs are therefore potential candidate cells to replace LDECs in tissue engineering to treat lacrimal duct diseases.
文摘AIM:To analyze cases of obstruction of the nasolacrimal duct which creates a fertile environment for secondary bacterial Infection and can result in dacryocystitis,which is a constant threat to cornea and orbital soft tissue and a potential source of endophthalmitis following intraocular surgery.The majority of obstructions of the lacrimal excretory outflow system are acquired ones occurring in adulthood and involving the distal parts of the system.Acquired obstruction may be primary/idiopathic or secondary to a wide variety of infectious,inflammatory,traumatic,mechanical,toxic or neoplastic causes mimicking idiopathic inflammation.These cases are treated by dacryocystorhinostomy(DCR).METHODS:The present study was conducted to determine the histopathologic,immunohistochemical and current microbiologic characteristics of lacrimal sac specimens in patients undergoing external dacryocystorhinostomy.RESULTS:Non-specific lacrimal sac pathology was present in all 33 cases and 81.8%of the cases showed moderate chronic inflammation with a chronic inflammatory score(CIS)ranging between 4 and 6,whereas 12.12%showed severe inflammatory changes with a CIS of 7.Mild degree of inflammation was seen in6.06%with a CIS of 3.The total prevalence of grampositive,gram-negative,and culture-negative samples were 59.4%,37.5%,and 3%respectively.CONCLUSION:Non-specific chronic inflammation withfibrosis is indeed the most commonly reported histopathological finding in lacrimal sac wall biopsy specimens.
基金The National Natural Science Foundation of China,No.61931013,No.61527807 and No.62041103Nanjing Medical Science and technique Development Foundation,No.QRX17207.
文摘BACKGROUND Nasolacrimal duct obstruction leading to epiphora is a common ophthalmologic complaint,and it may derive from amyloidosis in rare cases.There are a few reports about localized amyloidosis,and amyloidosis with involvement and obstruction of the nasolacrimal duct is exceedingly rare.CASE SUMMARY A 54-year-old male presented with a 2-year history of a lump overlying the left lacrimal sac that had grown rapidly for nearly half a year.Physical examination touched a firm lump in the left lacrimal sac.Nasal endoscopy discovered lesions in appearance of sediments with easy bleeding at the entry of the nasolacrimal duct of the left inferior nasal meatus.Computerized tomography scan revealed speckle high density in the left lacrimal sac and the dilated nasolacrimal duct.During an endoscopic exploration and excision,a large number of dacryoliths were exposed.Pathology indicated amorphous pink material and multinucleated giant cell reaction in the fibrous tissue.CONCLUSION This case showed amyloidosis in localized form mimicking dacryolith with nasolacrimal duct obstruction.In clinical practice,we should be aware of the possibility of localized amyloidosis in the nasolacrimal excretory system.
