Publication trends of primary angle-closure disease during 1991-2022:a bibliometric analysis

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.

Primary pancreatic hydatid disease associated with acute pancreatitis

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A STUDY OF THE RELATIONSHIP BETWEEN URINARY ALBUMIN EXCRETION QUANTITY AND SERUM CHOLESTEROL IN PRIMARY GLOMERULAR DISEASE

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.

Spectrum of Primary Glomerular Diseases in Patients Presenting with Urinary Abnormalities

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.

Long-term follow-up of children and adolescents with primary sclerosing cholangitis and autoimmune sclerosing cholangitis

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.

Oral granuloma in a pediatric patient with chronic graft-versus-host disease:A case report

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.

Study on the Relationship between Blood Stasis Syndrome and Clinical Pathology in 227 Patients with Primary Glomerular Disease

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...

Gene therapy and genome editing for primary immunodeficiency diseases

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.

An updated review on phenocopies of primary immunodeficiency diseases

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.

IgA nephropathy treatment with traditional Chinese medicine:A case report

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.

Current status and prospects of primary immunodeficiency diseases in Asia

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.

Druggable monogenic immune defects hidden in diverse medical specialties:Focus on overlap syndromes

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.

Differences in clinical characteristics between younger and older patients with COVID-19 and their relationship with the length of hospital stay

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.

Recent advances in lentiviral vectors for gene therapy

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.

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient

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.