Background: Goniosynechialysis is a surgical procedure that has been shown to slow the progression of glaucoma in oriental eyes with chronic angle closure glaucoma. This procedure was successful in 80% of cases, and t...Background: Goniosynechialysis is a surgical procedure that has been shown to slow the progression of glaucoma in oriental eyes with chronic angle closure glaucoma. This procedure was successful in 80% of cases, and the peripheral anterior syenchiae did not exist until one year later. Nonetheless, there is little evidence of its efficacy in our context. Our study aims to investigate the efficacy of goniosynechialysis during phacoemulsification in patients with primary angle closure disease and concomitant cataract. Methods: This was an observational, prospective study. The intra-ocular pressure, need for anti-glaucoma drugs, visual acuity, the extent of synechiae, anterior chamber depth, surgical success rate, and other indicators were monitored for at least three months following surgery. Results: This study included 114 patients (118 eyes), 61 with chronic angle closure glaucoma (51.69%), 33 with primary angle closure (27.97%), and 24 with acute attack angle closure (20.34%), who were surgically treated with phacoemulsification and goniosynechialysis (Phaco-GSL). The mean intra-ocular pressure had significantly decreased three months after surgery (pre- vs post-op: 22.04 ± 10.86 vs 15.41 ± 6.06 mmHg, p-value p-value p-value p-value p-value Conclusion: Regardless of the type of glaucoma, combined phacoemulsification-goniosynechialysis is effective in lowering pressure, restoring vision, reducing the need for anti-glaucoma drugs, and preventing the synechial recurrence. Success was higher in eyes with less extensive synechiae. Phaco-GSL is safe and effective in the treatment of primary angle closure diseases with co-existing cataract.展开更多
AIM:To perform a bibliometric analysis in the field of primary angle-closure disease(PACD)research to characterize current global trends and compare contributions from different countries,institutions,journals,and aut...AIM:To perform a bibliometric analysis in the field of primary angle-closure disease(PACD)research to characterize current global trends and compare contributions from different countries,institutions,journals,and authors.METHODS:All PACD-related publications from 1991 to 2022 from the Web of Science Core Collection database were extracted.Microsoft Excel and VOSviewer were used to collect publication data,analyze publication trends,and visualize relevant results.RESULTS:A total of 1721 publications with 34591 citations were identified.China produced the most publications(554)while ranking third in citations(8220 times).The United States contributed the most citations(12315 times)with publications(362)ranking second.The Investigative Ophthalmology Visual Science was the most productive journal concerning PACD,and Aung Tin was the author with the highest number of publications in the field.Keywords were classified into three clusters,epidemiology and pathogenesis research,optical coherence tomography(OCT)and other imaging examinations,and glaucoma surgery treatment.Genome-wide association,susceptibility loci,OCT,and combined phacoemulsification have become new hot research topics in recent years since 2015.CONCLUSION:China,the United States,and Singapore make the most outstanding contributions in the field of PACD research.OCT,combined phacoemulsification,and gene mutation-related study,are considered the potential focus for future research.展开更多
Primary glomerular diseases in the elderly population are a frustrating topic due to difficulties in both the diagnosis and decision making about treatment. The most frequent type of primary glomerular disease in elde...Primary glomerular diseases in the elderly population are a frustrating topic due to difficulties in both the diagnosis and decision making about treatment. The most frequent type of primary glomerular disease in elderly is membranous nephropathy; while its counterpart in younger population is Ig A nephropathy. The most frequent cause of nephrotic syndrome in the elderly is also membranous nephropathy. Pauci-immune crescentic glomerulonephritis(GN) rate increases both in elderly and very elderly population. Pauci-immune crescentic GNs should be regarded as urgencies in elderly patients as in their younger counterparts due to potential for causing end-stage renal disease in case of delayed diagnosis and treatment, and also causing mortality due to alveolar hemorrhage in patients with pulmonary involvement. Renal biopsy is the inevitable diagnostic method in the elderly as in all other age groups. Renal biopsy prevents unnecessary treatments and provides prognostic data. So advanced age should not be the sole contraindication for renal biopsy. The course of primary glomerular diseases may differ in the elderly population. Acute kidney injury is more frequent in the course and renal functions may be worse at presentation. These patients are more prone to be hypertensive. The decision about adding immune suppressive therapies to conservative methods should be made considering many factors like co-morbidities, drug side effects and potential drug interactions, risk of infection, patient preference, life expectancy and renal functions at the time of diagnosis.展开更多
The Editor welcomes submissions for possible publication in the Letters to the Editor section. Letters commenting on an article published in the Journal or other interesting pieces will be considered if they are recei...The Editor welcomes submissions for possible publication in the Letters to the Editor section. Letters commenting on an article published in the Journal or other interesting pieces will be considered if they are received within 6 weeks of the time the article was published. Authors of the article being commented on will be given an opportunity to offer a timely response to the letter. Authors of letters will be notified that the letter has been received. Unpublished letters cannot be returned.展开更多
A study was made to analyse.the relationship between serum total cholesterol(STC) and the other three parameters,urinary albumin excretion quantity(UAEQ), serum β2-microglobulin(Sβ2-MG), serum albumin(SA)in a group ...A study was made to analyse.the relationship between serum total cholesterol(STC) and the other three parameters,urinary albumin excretion quantity(UAEQ), serum β2-microglobulin(Sβ2-MG), serum albumin(SA)in a group of 38 patients with primary glomerular disease. The patients were classified into two groups according to proteinuria and serum albumin:Nephr it is group: proteinuria<3.5 g/d,serum albumin>30 g/L;Nephrosis group:proteinuria≥3.5 g/d,serum albumin≤30g/L. STC showed higher correlation with UAEQ(P< 0. 05￣0. 01),but did not have any significant correlation with Sβ2-MG berore and after the treatment or the two groups.STC had negative correlation with SA berore the treat ment of nephrosis group(P<0.01),but STC had no significant correlation with SA in nephritis group and after the treatment of nephrosis group. These data suggest that the decrease of SA is not the sole cause of hypercholestcrolemia. The presence of an association between STC and UAEQ indicates that the kidneys play a certain role in cholesterol metabolism.展开更多
Introduction: Primary Glomerular Diseases are a spectrum of renal disorders of unknown aetiology with distinct characteristics, specific natural history and prognosis. A thorough evaluation is prerequisite to establis...Introduction: Primary Glomerular Diseases are a spectrum of renal disorders of unknown aetiology with distinct characteristics, specific natural history and prognosis. A thorough evaluation is prerequisite to establish the diagnosis since many systemic diseases and secondary aetiology masquerade as primary diseases. Methods: This prospective observational study was conducted at a tertiary care centre and included 30 patients, with clinical features suggestive of primary glomerular diseases, of which 23 patients (76.6%) were males and 07 patients (23.33%) were females. The mean age at presentation was 37.23 ± 12.89 years. Among the observed spectrum of Primary Glomerular Diseases, IgA Nephropathy (IgA N) was seen in 26.67% patients, Focal Segmental Glomerulosclerosis (FSGS) in 20% patients and Membranous Glomerulopathy (MGN) in 13.33% patients, whereas the incidence of other abnormalities had less percentage contribution. Proteinuria was the commonest presentation seen in 60% patients, followed by Microscopic Haematuria in 20%. Mean Serum Creatinine was 0.99 ± 0.16 mg/dl. Mean Serum Albumin was 2.51 ± 0.76 gm/dl. Overall Nephrotic range proteinuria was observed in 15 (50%) patients. Results: IgA N, FSGS & MGN were the commonest observed Primary Glomerular Diseases. Proteinuria, Haematuria, Anasarca and Pedal Oedema were the commonest observed clinical presentations. Conclusions: In this studied series IgA Nephropathy, FSGS and MGN were the most prevelant diagnoses in the patients presenting with Urinary Abnormality. Nephrotic range Protenuria was the major indication for biopsy, there is a temporal variation in glomerulopathies wherein there is increase in incidence of IgA Nephropathy and decrease in incidence of FSGS.展开更多
There was estimated a higher incidence of de novo inflammatory bowel disease (IBD) after solid organ transplantation than in the general population. The onset of IBD in the organ transplant recipient population is an ...There was estimated a higher incidence of de novo inflammatory bowel disease (IBD) after solid organ transplantation than in the general population. The onset of IBD in the organ transplant recipient population is an important clinical situation which is associated to higher morbidity and difficulty in the medical therapeutic management because of possible interaction between anti-reject therapy and IBD therapy. IBD course after liver transplantation (LT) is variable, but about one third of patients may worsen, needing an increase in medical therapy or a colectomy. Active IBD at the time of LT, discontinuation of 5-aminosalicylic acid or azathioprine at the time of LT and use of tacrolimus-based immunosuppression may be associated with an unfavorable outcome of IBD after LT. Anti-tumor necrosis factor alpha (TNFα) therapy for refractory IBD may be an effective and safe therapeutic option after LT. The little experience of the use of biological therapy in transplanted patients, with concomitant anti-rejection therapy, suggests there be a higher more careful surveillance regarding the risk of infectious diseases, autoimmune diseases, and neoplasms. An increased risk of colorectal cancer (CRC) is present also after LT in IBD patients with primary sclerosing cholangitis (PSC). An annual program of endoscopic surveillance with serial biopsies for CRC is recommended. A prophylactic colectomy in selected IBD/PSC patients with CRC risk factors could be a good management strategy in the CRC prevention, but it is used infrequently in the majority of LT centers. About 30% of patients develop multiple IBD recurrence and 20% of patients require a colectomy after renal transplantation. Like in the liver transplantation, anti-TNFα therapy could be an effective treatment in IBD patients with conventional refractory therapy after renal or heart transplantation. A large number of patients are needed to confirm the preliminary observations. Regarding the higher clinical complexity of this subgroup of IBD patients, a close multidisciplinary approach between an IBD dedicated gastroenterologist and surgeon and an organ transplantation specialist is necessary in order to have the best clinical management of IBD after transplantation.展开更多
BACKGROUND： Sclerosing cholangitis（SC） is a chronic cholestatic hepatobiliary disease with uncertain long-term prognosis in pediatric patients. This study aimed to evaluate longterm results in children with SC acco...BACKGROUND： Sclerosing cholangitis（SC） is a chronic cholestatic hepatobiliary disease with uncertain long-term prognosis in pediatric patients. This study aimed to evaluate longterm results in children with SC according to the types of SC.METHODS： We retrospectively followed up 25 children with SC over a period of 4-17 years（median 12）. The diagnosis of SC was based on biochemical, histological and cholangiographic findings. Patients fulfilling diagnostic criteria for probable or definite autoimmune hepatitis at the time of diagnosis were defined as having autoimmune sclerosing cholangitis（ASC）; other patients were included in a group of primary sclerosing cholangitis（PSC）. The incidence of the following complications was studied： obstructive cholangitis, portal hypertension, advanced liver disease and death associated with the primary disease.RESULTS： Fourteen（56%） patients had PSC and 11（44%） had ASC. Patients with ASC were significantly younger at the time of diagnosis（12.3 vs 15.4 years, P=0.032） and had higher Ig G levels（22.7 vs 17.2 g/L, P=0.003）. The mentioned complications occurred in 4（16%） patients with SC, exclusively in the PSC group： one patient died from colorectal cancer, one patient underwent liver transplantation and two patients, in whom severe bile duct stenosis was present at diagnosis, were endoscopically treated for acute cholangitis. Furthermore, twoother children with ASC and 2 children with PSC had elevated aminotransferase levels. The 10-year overall survival was 95.8% in all patients, 100% in patients without complicated liver disease, and 75.0% in patients with complications.CONCLUSION： In children, ASC is a frequent type of SC, whose prognosis may be better than that in patients with PSC.展开更多
BACKGROUND Oral mucositis is often observed with graft-versus-host disease(GVHD);however,the occurrence of oral granuloma is rare.The rapid increase in granulomatous lesions should be distinguished from malignant tumo...BACKGROUND Oral mucositis is often observed with graft-versus-host disease(GVHD);however,the occurrence of oral granuloma is rare.The rapid increase in granulomatous lesions should be distinguished from malignant tumors in patients with GVHD because malignant diseases can develop in those patients.This case is the youngest pediatric patient with granuloma associated with GVHD.CASE SUMMARY The patient was a 1-year and 5-mo-old girl who presented to our department for the management of oral nodules.At the age of 5 mo,she was diagnosed with primary immunodeficiency disease,cord blood transplant was performed at 11 mo and bone marrow transplant at 1 year of age.After transplantation,GVHD and oral mucositis developed,and tacrolimus was administered.Interestingly,nodules appeared on the lower lip and buccal mucosa,which spontaneously disappeared.Then,a new nodule appeared on the left lateral border of the tongue.Resection was performed and the histopathological diagnosis was granuloma.The origin of these nodules were considered to be the fibroblasts activated under inflammation caused by GVHD because the calcineurin inhibitor tacrolimus acted on their proliferation.CONCLUSION It is very important to distinguish oral granulomatous lesions from malignancies if GVHD is present at the base and if immunosuppressive agents and steroids are being administered.展开更多
To investigate the relationship between the severity of Chinese medicine(CM) bloodstasis syndrome(BSS) with clinical features and renal lesion indexes of the primary glomerular disease. Methods:An epidemiological surv...To investigate the relationship between the severity of Chinese medicine(CM) bloodstasis syndrome(BSS) with clinical features and renal lesion indexes of the primary glomerular disease. Methods:An epidemiological survey was conducted to collect the data of 227 patients diagnosed as chronic primary glomerular diseases,and their severity of BSS were scored three days before renal biopsies were performed.The following clinical indexes were analyzed:age,course of glomerular diseases,24-h urine protein ration(Up...展开更多
In past two decades the gene therapy using genetic modified autologous hematopoietic stem cells(HSCs)transduced with the viral vector has become a promising alternative option for treating primary immunodeficiency dis...In past two decades the gene therapy using genetic modified autologous hematopoietic stem cells(HSCs)transduced with the viral vector has become a promising alternative option for treating primary immunodeficiency diseases(PIDs).Despite of some pitfalls at early stage clinical trials,the field of gene therapy has advanced significantly in the last decade with improvements in viral vector safety,preparatory regime for manufacturing high quality virus,automated CD34 cell purification.Hence,the overall outcome from the clinical trials for the different PIDs has been very encouraging.In addition to the viral vector based gene therapy,the recent fast moving forward developments in genome editing using engineered nucleases in HSCs has provided a new promising platform for the treatment of PIDs.This review provides an overall outcome and progress in gene therapy clinical trials for SCID-X,ADA-SCID,WAS,X-CGD,and the recent developments in genome editing technology applied in HSCs for developing potential therapy,particular in the key studies for PIDs.展开更多
Primary immunodeficiency diseases(PIDs)refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections,autoimmunity and increased risk of malignancies.These group of disor...Primary immunodeficiency diseases(PIDs)refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections,autoimmunity and increased risk of malignancies.These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as“Phenocopies of PIDs”.These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines.In this review,we provide an update on clinical manifestations,diagnosis and management of these diseases.展开更多
Primary Immunodeficiency Diseases(PIDs)are increasingly being reported across the World.Several advances have been made in the diagnostic and therapeutic research related to PIDs.With increasing awareness,the field of...Primary Immunodeficiency Diseases(PIDs)are increasingly being reported across the World.Several advances have been made in the diagnostic and therapeutic research related to PIDs.With increasing awareness,the field of PIDs has rapidly evolved in Asia as well.In this review,we summarize the progress that has been made in the field of PIDs in Asian countries;major limitations and challenges faced by the clinicians working in this field in Asia;difference in spectrum of PIDs in Asia from rest of the World;current state of diagnostic and treatment facilities available in various countries in Asia and the future prospects of these diseases in the continent.展开更多
Lian Duan, Lin Lu, Carney complex （CNC） is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical mani-festations, CNC is often misdiagnosed. Re...Lian Duan, Lin Lu, Carney complex （CNC） is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical mani-festations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. Early diagnosis of CNC would alert ongoing surveillance of tumors and complications; the prognosis of CNC may thus be improved by early treatment. Herein, we report two cases of CNC with bone lesions.展开更多
BACKGROUND IgA nephropathy(IgAN)is a common primary glomerular disease that leads to end-stage renal disease with poor therapy efficacy.Traditional Chinese medicine(TCM)is effective in the treatment of IgAN and has th...BACKGROUND IgA nephropathy(IgAN)is a common primary glomerular disease that leads to end-stage renal disease with poor therapy efficacy.Traditional Chinese medicine(TCM)is effective in the treatment of IgAN and has the potential to become an alternative treatment for IgAN.Professor Yan-Qin Zou is a nephropathy expert,a National Chinese Medicine Master,and an heir to the Menghe School of Medicine.CASE SUMMARY A 28-year-old man had positive urinary protein and elevated serum creatinine(Scr)results and was diagnosed with IgAN 2-3 years prior to the outpatient department visit at our hospital in 2017.Professor Zou used the following methods to treat the patient:Invigorating the spleen and tonifying the kidney,removing dampness and clearing turbidity,quickening the blood and transforming stasis,and freeing vessels and regulating collaterals.She adjusted the prescription in accordance with the patient’s symptoms.After 6 mo of treatment,the symptoms had resolved and serological indexes were also decreased[Scr from 288.5 to 188.6μmol/L,blood urea nitrogen(BUN)from 10.9 to 9.5 mmol/L,serum uric acid(UA)from 612 to 503μmol/L].During follow-up,BUN,Scr,and UA levels remained stable.CONCLUSION Professor Zou’s therapeutic strategy to treat IgAN using TCM was efficacious and a good reference for application.展开更多
In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with i...In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors,providing innovative precision treatments that can change the natural history of diseases.In this article we review some of these“druggable”inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine specialties.Since the availability of precision treatments can dramatically impact the course of these diseases,preventing the development of organ damage,it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.展开更多
Background:The coronavirus disease 2019(COVID-19)pandemic is currently threatening the health of individuals worldwide.We compared the clinical characteristics between younger patients(aged<60 years)and older patie...Background:The coronavirus disease 2019(COVID-19)pandemic is currently threatening the health of individuals worldwide.We compared the clinical characteristics between younger patients(aged<60 years)and older patients(aged≥60 years)with COVID-19,detected the risk factors associated with a prolonged hospital stay,and examined the treatments commonly used with a particular focus on antiviral therapies.Methods:This retrospective study was conducted at the West Campus,Union Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology(Wuhan,China).The sample consisted of 123 patients admitted to the hospital between 9th February,2020,and 3rd March,2020.The data related to the demographics,laboratory findings,and treatment were analyzed to identify discrepancies between younger and older patients and those with and without primary diseases.The risk factors that contribute to a prolonged hospital stay were subsequently identified.Results:Patients aged≥60 years required longer hospital stay than younger patients(P=0.001).The percentage of lymphocytes was significantly lower in older patients and those with primary diseases(P=0.016 and P=0.042,respectively).The findings revealed that the risk factors that contributed to the length of hospital stay were age,the number of days of illness before hospitalization,white blood cell(WBC)count and albumin levels at admission,a neutrophil fraction at discharge,and antibiotic treatment.Analysis using a model that consisted of the above five risk factors for predicting prolonged hospital stay(>14 days)yielded an area under the ROC(AuROC)curve of 0.716.Antiviral and antibiotic treatments were administered to 97.6%and 39.0%of patients,respectively.The antiviral drugs most commonly administered were traditional Chinese medicine(83.7%)and arbidol(75.6%).Conclusions:In this study,older patients and those with primary diseases were at a higher risk of worse clinical manifestations.The physicians who treat the patients should pay close attention to the risk factors that contribute to the length of hospital stay,which could be used for predicting prolonged hospital stay.Traditional Chinese medicine and arbidol were the most frequently used antiviral drugs.Nevertheless,the extent to which these medications can effectively treat COVID-19 warrants further investigation.展开更多
Lentiviral vectors(LVs), derived from human immunodeficiency virus, are powerful tools for modifying the genes of eukaryotic cells such as hematopoietic stem cells and neural cells. With the extensive and in-depth stu...Lentiviral vectors(LVs), derived from human immunodeficiency virus, are powerful tools for modifying the genes of eukaryotic cells such as hematopoietic stem cells and neural cells. With the extensive and in-depth studies on this gene therapy vehicle over the past two decades, LVs have been widely used in both research and clinical trials. For instance, third-generation and selfinactive LVs have been used to introduce a gene with therapeutic potential into the host genome and achieve targeted delivery into specific tissue. When LVs are employed in leukemia, the transduced T cells recognize and kill the tumor B cells;in β-thalassemia, the transduced CD34^(+) cells express normal β-globin;in adenosine deaminase-deficient severe combined immunodeficiency, the autologous CD34^(+) cells express adenosine deaminase and realize immune reconstitution. Overall, LVs can perform significant roles in the treatment of primary immunodeficiency diseases, hemoglobinopathies, B cell leukemia, and neurodegenerative diseases. In this review, we discuss the recent developments and therapeutic applications of LVs. The safe and efficient LVs show great promise as a tool for human gene therapy.展开更多
Background Leukocyte adhesion deficiency type 1 （LAD-l） is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound hea...Background Leukocyte adhesion deficiency type 1 （LAD-l） is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation. Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections. The purpose of this study was to collect the clinical findings of the disease and to identify the genetic entity. Methods CD18 expression in the peripheral blood leukocytes from the patient, his parents and normal control was measured with flow cytometry. The entire coding regions of the CD18 gene were screened with direct sequencing genomic DNA. Results CD18 expression level on this patient＇s leukocyte surface was significantly decreased, with normal level in control group, his father and mother. Gene analysis revealed that this patient had a homozygous c.899A〉T missense mutation in exon 8 of CD18 gene, causing the substitution of Asp to Val at the 300 amino acid. His parents were both heterozygous carriers while no such mutation was found in 50 normal controls. Conclusion This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region （HCR） of CD18 and confirmed the heterogeneity of the mutations causing LAD-1, indicating it was quite beneficial to establish correct and early diagnosis in children with severe LAD-1.展开更多
文摘Background: Goniosynechialysis is a surgical procedure that has been shown to slow the progression of glaucoma in oriental eyes with chronic angle closure glaucoma. This procedure was successful in 80% of cases, and the peripheral anterior syenchiae did not exist until one year later. Nonetheless, there is little evidence of its efficacy in our context. Our study aims to investigate the efficacy of goniosynechialysis during phacoemulsification in patients with primary angle closure disease and concomitant cataract. Methods: This was an observational, prospective study. The intra-ocular pressure, need for anti-glaucoma drugs, visual acuity, the extent of synechiae, anterior chamber depth, surgical success rate, and other indicators were monitored for at least three months following surgery. Results: This study included 114 patients (118 eyes), 61 with chronic angle closure glaucoma (51.69%), 33 with primary angle closure (27.97%), and 24 with acute attack angle closure (20.34%), who were surgically treated with phacoemulsification and goniosynechialysis (Phaco-GSL). The mean intra-ocular pressure had significantly decreased three months after surgery (pre- vs post-op: 22.04 ± 10.86 vs 15.41 ± 6.06 mmHg, p-value p-value p-value p-value p-value Conclusion: Regardless of the type of glaucoma, combined phacoemulsification-goniosynechialysis is effective in lowering pressure, restoring vision, reducing the need for anti-glaucoma drugs, and preventing the synechial recurrence. Success was higher in eyes with less extensive synechiae. Phaco-GSL is safe and effective in the treatment of primary angle closure diseases with co-existing cataract.
基金Supported by Shanghai Clinical Research Key Project(No.SHDC2020CR6029)。
文摘AIM:To perform a bibliometric analysis in the field of primary angle-closure disease(PACD)research to characterize current global trends and compare contributions from different countries,institutions,journals,and authors.METHODS:All PACD-related publications from 1991 to 2022 from the Web of Science Core Collection database were extracted.Microsoft Excel and VOSviewer were used to collect publication data,analyze publication trends,and visualize relevant results.RESULTS:A total of 1721 publications with 34591 citations were identified.China produced the most publications(554)while ranking third in citations(8220 times).The United States contributed the most citations(12315 times)with publications(362)ranking second.The Investigative Ophthalmology Visual Science was the most productive journal concerning PACD,and Aung Tin was the author with the highest number of publications in the field.Keywords were classified into three clusters,epidemiology and pathogenesis research,optical coherence tomography(OCT)and other imaging examinations,and glaucoma surgery treatment.Genome-wide association,susceptibility loci,OCT,and combined phacoemulsification have become new hot research topics in recent years since 2015.CONCLUSION:China,the United States,and Singapore make the most outstanding contributions in the field of PACD research.OCT,combined phacoemulsification,and gene mutation-related study,are considered the potential focus for future research.
文摘Primary glomerular diseases in the elderly population are a frustrating topic due to difficulties in both the diagnosis and decision making about treatment. The most frequent type of primary glomerular disease in elderly is membranous nephropathy; while its counterpart in younger population is Ig A nephropathy. The most frequent cause of nephrotic syndrome in the elderly is also membranous nephropathy. Pauci-immune crescentic glomerulonephritis(GN) rate increases both in elderly and very elderly population. Pauci-immune crescentic GNs should be regarded as urgencies in elderly patients as in their younger counterparts due to potential for causing end-stage renal disease in case of delayed diagnosis and treatment, and also causing mortality due to alveolar hemorrhage in patients with pulmonary involvement. Renal biopsy is the inevitable diagnostic method in the elderly as in all other age groups. Renal biopsy prevents unnecessary treatments and provides prognostic data. So advanced age should not be the sole contraindication for renal biopsy. The course of primary glomerular diseases may differ in the elderly population. Acute kidney injury is more frequent in the course and renal functions may be worse at presentation. These patients are more prone to be hypertensive. The decision about adding immune suppressive therapies to conservative methods should be made considering many factors like co-morbidities, drug side effects and potential drug interactions, risk of infection, patient preference, life expectancy and renal functions at the time of diagnosis.
文摘The Editor welcomes submissions for possible publication in the Letters to the Editor section. Letters commenting on an article published in the Journal or other interesting pieces will be considered if they are received within 6 weeks of the time the article was published. Authors of the article being commented on will be given an opportunity to offer a timely response to the letter. Authors of letters will be notified that the letter has been received. Unpublished letters cannot be returned.
文摘A study was made to analyse.the relationship between serum total cholesterol(STC) and the other three parameters,urinary albumin excretion quantity(UAEQ), serum β2-microglobulin(Sβ2-MG), serum albumin(SA)in a group of 38 patients with primary glomerular disease. The patients were classified into two groups according to proteinuria and serum albumin:Nephr it is group: proteinuria<3.5 g/d,serum albumin>30 g/L;Nephrosis group:proteinuria≥3.5 g/d,serum albumin≤30g/L. STC showed higher correlation with UAEQ(P< 0. 05￣0. 01),but did not have any significant correlation with Sβ2-MG berore and after the treatment or the two groups.STC had negative correlation with SA berore the treat ment of nephrosis group(P<0.01),but STC had no significant correlation with SA in nephritis group and after the treatment of nephrosis group. These data suggest that the decrease of SA is not the sole cause of hypercholestcrolemia. The presence of an association between STC and UAEQ indicates that the kidneys play a certain role in cholesterol metabolism.
文摘Introduction: Primary Glomerular Diseases are a spectrum of renal disorders of unknown aetiology with distinct characteristics, specific natural history and prognosis. A thorough evaluation is prerequisite to establish the diagnosis since many systemic diseases and secondary aetiology masquerade as primary diseases. Methods: This prospective observational study was conducted at a tertiary care centre and included 30 patients, with clinical features suggestive of primary glomerular diseases, of which 23 patients (76.6%) were males and 07 patients (23.33%) were females. The mean age at presentation was 37.23 ± 12.89 years. Among the observed spectrum of Primary Glomerular Diseases, IgA Nephropathy (IgA N) was seen in 26.67% patients, Focal Segmental Glomerulosclerosis (FSGS) in 20% patients and Membranous Glomerulopathy (MGN) in 13.33% patients, whereas the incidence of other abnormalities had less percentage contribution. Proteinuria was the commonest presentation seen in 60% patients, followed by Microscopic Haematuria in 20%. Mean Serum Creatinine was 0.99 ± 0.16 mg/dl. Mean Serum Albumin was 2.51 ± 0.76 gm/dl. Overall Nephrotic range proteinuria was observed in 15 (50%) patients. Results: IgA N, FSGS & MGN were the commonest observed Primary Glomerular Diseases. Proteinuria, Haematuria, Anasarca and Pedal Oedema were the commonest observed clinical presentations. Conclusions: In this studied series IgA Nephropathy, FSGS and MGN were the most prevelant diagnoses in the patients presenting with Urinary Abnormality. Nephrotic range Protenuria was the major indication for biopsy, there is a temporal variation in glomerulopathies wherein there is increase in incidence of IgA Nephropathy and decrease in incidence of FSGS.
文摘There was estimated a higher incidence of de novo inflammatory bowel disease (IBD) after solid organ transplantation than in the general population. The onset of IBD in the organ transplant recipient population is an important clinical situation which is associated to higher morbidity and difficulty in the medical therapeutic management because of possible interaction between anti-reject therapy and IBD therapy. IBD course after liver transplantation (LT) is variable, but about one third of patients may worsen, needing an increase in medical therapy or a colectomy. Active IBD at the time of LT, discontinuation of 5-aminosalicylic acid or azathioprine at the time of LT and use of tacrolimus-based immunosuppression may be associated with an unfavorable outcome of IBD after LT. Anti-tumor necrosis factor alpha (TNFα) therapy for refractory IBD may be an effective and safe therapeutic option after LT. The little experience of the use of biological therapy in transplanted patients, with concomitant anti-rejection therapy, suggests there be a higher more careful surveillance regarding the risk of infectious diseases, autoimmune diseases, and neoplasms. An increased risk of colorectal cancer (CRC) is present also after LT in IBD patients with primary sclerosing cholangitis (PSC). An annual program of endoscopic surveillance with serial biopsies for CRC is recommended. A prophylactic colectomy in selected IBD/PSC patients with CRC risk factors could be a good management strategy in the CRC prevention, but it is used infrequently in the majority of LT centers. About 30% of patients develop multiple IBD recurrence and 20% of patients require a colectomy after renal transplantation. Like in the liver transplantation, anti-TNFα therapy could be an effective treatment in IBD patients with conventional refractory therapy after renal or heart transplantation. A large number of patients are needed to confirm the preliminary observations. Regarding the higher clinical complexity of this subgroup of IBD patients, a close multidisciplinary approach between an IBD dedicated gastroenterologist and surgeon and an organ transplantation specialist is necessary in order to have the best clinical management of IBD after transplantation.
基金supported by a grant from the Czech Ministry of Education,Youth and Sports(NPU LO 1304)
文摘BACKGROUND： Sclerosing cholangitis（SC） is a chronic cholestatic hepatobiliary disease with uncertain long-term prognosis in pediatric patients. This study aimed to evaluate longterm results in children with SC according to the types of SC.METHODS： We retrospectively followed up 25 children with SC over a period of 4-17 years（median 12）. The diagnosis of SC was based on biochemical, histological and cholangiographic findings. Patients fulfilling diagnostic criteria for probable or definite autoimmune hepatitis at the time of diagnosis were defined as having autoimmune sclerosing cholangitis（ASC）; other patients were included in a group of primary sclerosing cholangitis（PSC）. The incidence of the following complications was studied： obstructive cholangitis, portal hypertension, advanced liver disease and death associated with the primary disease.RESULTS： Fourteen（56%） patients had PSC and 11（44%） had ASC. Patients with ASC were significantly younger at the time of diagnosis（12.3 vs 15.4 years, P=0.032） and had higher Ig G levels（22.7 vs 17.2 g/L, P=0.003）. The mentioned complications occurred in 4（16%） patients with SC, exclusively in the PSC group： one patient died from colorectal cancer, one patient underwent liver transplantation and two patients, in whom severe bile duct stenosis was present at diagnosis, were endoscopically treated for acute cholangitis. Furthermore, twoother children with ASC and 2 children with PSC had elevated aminotransferase levels. The 10-year overall survival was 95.8% in all patients, 100% in patients without complicated liver disease, and 75.0% in patients with complications.CONCLUSION： In children, ASC is a frequent type of SC, whose prognosis may be better than that in patients with PSC.
文摘BACKGROUND Oral mucositis is often observed with graft-versus-host disease(GVHD);however,the occurrence of oral granuloma is rare.The rapid increase in granulomatous lesions should be distinguished from malignant tumors in patients with GVHD because malignant diseases can develop in those patients.This case is the youngest pediatric patient with granuloma associated with GVHD.CASE SUMMARY The patient was a 1-year and 5-mo-old girl who presented to our department for the management of oral nodules.At the age of 5 mo,she was diagnosed with primary immunodeficiency disease,cord blood transplant was performed at 11 mo and bone marrow transplant at 1 year of age.After transplantation,GVHD and oral mucositis developed,and tacrolimus was administered.Interestingly,nodules appeared on the lower lip and buccal mucosa,which spontaneously disappeared.Then,a new nodule appeared on the left lateral border of the tongue.Resection was performed and the histopathological diagnosis was granuloma.The origin of these nodules were considered to be the fibroblasts activated under inflammation caused by GVHD because the calcineurin inhibitor tacrolimus acted on their proliferation.CONCLUSION It is very important to distinguish oral granulomatous lesions from malignancies if GVHD is present at the base and if immunosuppressive agents and steroids are being administered.
基金Supported by Scientific Research Fund of State Administrationof Traditional Chinese Medicine of the P.R.China(No.04-05JQ07)
文摘To investigate the relationship between the severity of Chinese medicine(CM) bloodstasis syndrome(BSS) with clinical features and renal lesion indexes of the primary glomerular disease. Methods:An epidemiological survey was conducted to collect the data of 227 patients diagnosed as chronic primary glomerular diseases,and their severity of BSS were scored three days before renal biopsies were performed.The following clinical indexes were analyzed:age,course of glomerular diseases,24-h urine protein ration(Up...
基金We thank Dr Alessia Cavazza for helping in the manuscript correction.FZ is supported by the Wellcome Trust(104807/Z/14/Z)ZYZ is supported by National Natural Science Foundation of China(NO.81202316)+1 种基金Foundation from Children’s Hospital of Chongqing Medical University.AJT is supported by both the Wellcome Trust(104807/Z/14/Z)by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.
文摘In past two decades the gene therapy using genetic modified autologous hematopoietic stem cells(HSCs)transduced with the viral vector has become a promising alternative option for treating primary immunodeficiency diseases(PIDs).Despite of some pitfalls at early stage clinical trials,the field of gene therapy has advanced significantly in the last decade with improvements in viral vector safety,preparatory regime for manufacturing high quality virus,automated CD34 cell purification.Hence,the overall outcome from the clinical trials for the different PIDs has been very encouraging.In addition to the viral vector based gene therapy,the recent fast moving forward developments in genome editing using engineered nucleases in HSCs has provided a new promising platform for the treatment of PIDs.This review provides an overall outcome and progress in gene therapy clinical trials for SCID-X,ADA-SCID,WAS,X-CGD,and the recent developments in genome editing technology applied in HSCs for developing potential therapy,particular in the key studies for PIDs.
文摘Primary immunodeficiency diseases(PIDs)refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections,autoimmunity and increased risk of malignancies.These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as“Phenocopies of PIDs”.These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines.In this review,we provide an update on clinical manifestations,diagnosis and management of these diseases.
文摘Primary Immunodeficiency Diseases(PIDs)are increasingly being reported across the World.Several advances have been made in the diagnostic and therapeutic research related to PIDs.With increasing awareness,the field of PIDs has rapidly evolved in Asia as well.In this review,we summarize the progress that has been made in the field of PIDs in Asian countries;major limitations and challenges faced by the clinicians working in this field in Asia;difference in spectrum of PIDs in Asia from rest of the World;current state of diagnostic and treatment facilities available in various countries in Asia and the future prospects of these diseases in the continent.
文摘Lian Duan, Lin Lu, Carney complex （CNC） is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical mani-festations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. Early diagnosis of CNC would alert ongoing surveillance of tumors and complications; the prognosis of CNC may thus be improved by early treatment. Herein, we report two cases of CNC with bone lesions.
基金Supported by Delaying the Progression of Renal Failure in Chronic Kidney Disease Project,No. JD2019SZ10Jiangsu Chinese Medicine Science and Technology Development Projects,No. YB201913
文摘BACKGROUND IgA nephropathy(IgAN)is a common primary glomerular disease that leads to end-stage renal disease with poor therapy efficacy.Traditional Chinese medicine(TCM)is effective in the treatment of IgAN and has the potential to become an alternative treatment for IgAN.Professor Yan-Qin Zou is a nephropathy expert,a National Chinese Medicine Master,and an heir to the Menghe School of Medicine.CASE SUMMARY A 28-year-old man had positive urinary protein and elevated serum creatinine(Scr)results and was diagnosed with IgAN 2-3 years prior to the outpatient department visit at our hospital in 2017.Professor Zou used the following methods to treat the patient:Invigorating the spleen and tonifying the kidney,removing dampness and clearing turbidity,quickening the blood and transforming stasis,and freeing vessels and regulating collaterals.She adjusted the prescription in accordance with the patient’s symptoms.After 6 mo of treatment,the symptoms had resolved and serological indexes were also decreased[Scr from 288.5 to 188.6μmol/L,blood urea nitrogen(BUN)from 10.9 to 9.5 mmol/L,serum uric acid(UA)from 612 to 503μmol/L].During follow-up,BUN,Scr,and UA levels remained stable.CONCLUSION Professor Zou’s therapeutic strategy to treat IgAN using TCM was efficacious and a good reference for application.
基金Supported by the Italian Ministry of Health RF-2016-02362384the IRCCS Burlo GarofoloNo. RC 24/17
文摘In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors,providing innovative precision treatments that can change the natural history of diseases.In this article we review some of these“druggable”inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine specialties.Since the availability of precision treatments can dramatically impact the course of these diseases,preventing the development of organ damage,it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.
基金supported by the Natural Science Founda-tion of Hunan Province(Grant Number:2020JJ5918 awarded to Qian-Yi Peng)the National Natural Science Foundation of China(Grant Number:81974285 awarded to Qian-Yi Peng)the National Natural Science Foundation of China(Grant Num-ber:81873956 awarded to Li-Na Zhang).
文摘Background:The coronavirus disease 2019(COVID-19)pandemic is currently threatening the health of individuals worldwide.We compared the clinical characteristics between younger patients(aged<60 years)and older patients(aged≥60 years)with COVID-19,detected the risk factors associated with a prolonged hospital stay,and examined the treatments commonly used with a particular focus on antiviral therapies.Methods:This retrospective study was conducted at the West Campus,Union Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology(Wuhan,China).The sample consisted of 123 patients admitted to the hospital between 9th February,2020,and 3rd March,2020.The data related to the demographics,laboratory findings,and treatment were analyzed to identify discrepancies between younger and older patients and those with and without primary diseases.The risk factors that contribute to a prolonged hospital stay were subsequently identified.Results:Patients aged≥60 years required longer hospital stay than younger patients(P=0.001).The percentage of lymphocytes was significantly lower in older patients and those with primary diseases(P=0.016 and P=0.042,respectively).The findings revealed that the risk factors that contributed to the length of hospital stay were age,the number of days of illness before hospitalization,white blood cell(WBC)count and albumin levels at admission,a neutrophil fraction at discharge,and antibiotic treatment.Analysis using a model that consisted of the above five risk factors for predicting prolonged hospital stay(>14 days)yielded an area under the ROC(AuROC)curve of 0.716.Antiviral and antibiotic treatments were administered to 97.6%and 39.0%of patients,respectively.The antiviral drugs most commonly administered were traditional Chinese medicine(83.7%)and arbidol(75.6%).Conclusions:In this study,older patients and those with primary diseases were at a higher risk of worse clinical manifestations.The physicians who treat the patients should pay close attention to the risk factors that contribute to the length of hospital stay,which could be used for predicting prolonged hospital stay.Traditional Chinese medicine and arbidol were the most frequently used antiviral drugs.Nevertheless,the extent to which these medications can effectively treat COVID-19 warrants further investigation.
基金This work was supported by the National Key Research and Development Program of China(2020YFC2008302)the Sichuan Science and Technology program(2019YFG0266)the 1.3.5 project for disciplines of excellence,West China Hospital,Sichuan University(ZYJC18028,2021HXFH064).
文摘Lentiviral vectors(LVs), derived from human immunodeficiency virus, are powerful tools for modifying the genes of eukaryotic cells such as hematopoietic stem cells and neural cells. With the extensive and in-depth studies on this gene therapy vehicle over the past two decades, LVs have been widely used in both research and clinical trials. For instance, third-generation and selfinactive LVs have been used to introduce a gene with therapeutic potential into the host genome and achieve targeted delivery into specific tissue. When LVs are employed in leukemia, the transduced T cells recognize and kill the tumor B cells;in β-thalassemia, the transduced CD34^(+) cells express normal β-globin;in adenosine deaminase-deficient severe combined immunodeficiency, the autologous CD34^(+) cells express adenosine deaminase and realize immune reconstitution. Overall, LVs can perform significant roles in the treatment of primary immunodeficiency diseases, hemoglobinopathies, B cell leukemia, and neurodegenerative diseases. In this review, we discuss the recent developments and therapeutic applications of LVs. The safe and efficient LVs show great promise as a tool for human gene therapy.
文摘Background Leukocyte adhesion deficiency type 1 （LAD-l） is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation. Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections. The purpose of this study was to collect the clinical findings of the disease and to identify the genetic entity. Methods CD18 expression in the peripheral blood leukocytes from the patient, his parents and normal control was measured with flow cytometry. The entire coding regions of the CD18 gene were screened with direct sequencing genomic DNA. Results CD18 expression level on this patient＇s leukocyte surface was significantly decreased, with normal level in control group, his father and mother. Gene analysis revealed that this patient had a homozygous c.899A〉T missense mutation in exon 8 of CD18 gene, causing the substitution of Asp to Val at the 300 amino acid. His parents were both heterozygous carriers while no such mutation was found in 50 normal controls. Conclusion This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region （HCR） of CD18 and confirmed the heterogeneity of the mutations causing LAD-1, indicating it was quite beneficial to establish correct and early diagnosis in children with severe LAD-1.
