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Med. infant ; 30(2): 90-95, Junio 2023. tab, ilus
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443391


En la Diabetes tipo 1 (DM1) la pérdida de células ß pancreáticas es consecuencia de un proceso de autoinmunidad que cursa con la presencia de autoanticuerpos anti-islotes pancreáticos (AAPs). Estos AAPs son marcadores útiles para la clasificación de la enfermedad. En un centro pediátrico de tercer nivel se analizó la frecuencia de presentación de GADA, IA-2A, ZnT8A e IAA en un grupo con reciente debut entre enero 2018 y agosto 2021 (n= 90). Además, se investigó la frecuencia de presentación y relación de los AAPs con la edad, sexo y tiempo de evolución en pacientes en seguimiento (n= 240). En el grupo de debut se obtuvo positividad de GADA, IA-2A, ZnT8A y IAA en 77,8; 60; 62 y 47,8% de los pacientes respectivamente, un 4% no presentó AAPs. El 95,6% de los pacientes presentaron al menos un AAPs positivo. La frecuencia de IAA en el grupo en debut fue mayor en menores de 5 años. En el grupo en seguimiento el 75,2% resultaron GADA positivo (85,7% en mujeres y 62,8% en varones) p<0,05. IA-2A y ZnT8A fueron positivos en 45 y 51.7% respectivamente. El 91% presentaron al menos un AAP positivo. En este grupo se evidenció una menor positividad en función del tiempo de evolución. Se pudo determinar la frecuencia de presentación de los AAPs en un grupo en debut y la relación con la edad, sexo y tiempo de evolución en pacientes en seguimiento. La determinación de APPs facilita la correcta clasificación y elección de la terapia adecuada (AU)

In type 1 diabetes (DM1) the loss of pancreatic ß-cells is a consequence of an autoimmune process that results in the presence of pancreatic anti-islet autoantibodies (PAAs). PAAs are useful markers for the classification of the disease. The frequency of presentation of GADA, IA-2A, ZnT8A, and IAA in a group with recent debut seen between January 2018 and August 2021 (n= 90) was analyzed in a tertiary pediatric center. In addition, we investigated the frequency of presentation and association of PAAs with age, sex, and time of evolution in patients in follow-up (n= 240). In the debut group, GADA, IA2A, ZnT8A, and IAA positivity was found in 77.8, 60, 62, and 47.8% of patients, respectively; no PAAs were observed in 4% of the patients. Overall, 95.6% presented at least one positive PAA. The frequency of IAA in the debut group was higher in children younger than 5 years. In the follow-up group, 75.2% were GADA positive (85.7% of females and 62.8% of males) p<0.05. IA-2A and ZnT8A were positive in 45 and 51.7% respectively. Ninety-one percent presented with at least one positive PAA. In this group, a lower positivity was evidenced as a function of the time of evolution. The frequency of presentation of PAAs in a debut group and the relationship with age, sex, and time of evolution in patients in follow-up was demonstrated. The assessment of PAAs facilitates the correct classification and choice of adequate therapy (AU)

Humans , Infant , Child, Preschool , Child , Adolescent , Autoantibodies , Diabetes Mellitus, Type 1/classification , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/blood , Insulin-Secreting Cells , Autoimmune Diseases , Cross-Sectional Studies , Retrospective Studies , Glutamate Decarboxylase
Journal of Central South University(Medical Sciences) ; (12): 49-58, 2023.
Article in English | WPRIM | ID: wpr-971370


OBJECTIVES@#Programmed death 1 (PD-1) associated fulminant type 1 diabetes (PFD) is a rare acute and critical in internal medicine, and its clinical characteristics are still unclear. This study aims to analyze the clinical characteristics of PFD patients to improve clinical diagnosis and treatment.@*METHODS@#We retrospectively analyzed the clinical data of 10 patients with PFD admitted to the Second Xiangya Hospital of Central South University, combined with the data of 66 patients reported in the relevant literature, analyzed and summarized their clinical and immunological characteristics, and compared the patients with PFD with different islet autoantibody status.@*RESULTS@#Combined with our hospital and literature data, a total of 76 patients with PFD were reported, with the age of (60.9±12.1) years old, 60.0% male and body mass index of (22.1±5.2) kg/m2. In 76 patients, the most common tumors were lung cancer (43.4%) and melanoma (22.4%). Among PD-1 inhibitors, the most common drugs are nivolumab (37.5%) and pembrolizumab (38.9%). 82.2% of PFD patients developed diabetes ketoacidosis. The median onset time from PD-1 related inhibitor treatment to hyperglycemia was 95 (36.0, 164.5) d, and the median treatment cycle before the onset of diabetes was 6 (2.3, 8.0) cycles. 26% (19/73) of PFD patients had positive islet autoantibodies, and the proportion of ketoacidosis in the positive group was significantly higher than that in the negative group (100.0% vs 75.0%, P<0.05). The onset time and infusion times of diabetes after PD-1 inhibitor treatment in the autoantibody positive group were significantly lower than those in the autoantibody negative group (28.5 d vs 120.0 d; 2 cycles vs 7 cycles, both P<0.001).@*CONCLUSIONS@#After initiation of tumor immunotherapy, it is necessary to be alert to the occurrence of adverse reactions of PFD, and the onset of PFD with islet autoantibody positive is faster and more serious than that of patients with autoantibodies negative. Detection of islet autoantibodies and blood glucose before and after treatment with PD-1 inhibitors is of great value for early warning and prediction of PFD.

Humans , Male , Middle Aged , Aged , Female , Diabetes Mellitus, Type 1 , Programmed Cell Death 1 Receptor , Immune Checkpoint Inhibitors/therapeutic use , Retrospective Studies , Ketosis , Autoantibodies
Neuroscience Bulletin ; (6): 261-272, 2023.
Article in English | WPRIM | ID: wpr-971551


The extracellular domain (p75ECD) of p75 neurotrophin receptor (p75NTR) antagonizes Aβ neurotoxicity and promotes Aβ clearance in Alzheimer's disease (AD). The impaired shedding of p75ECD is a key pathological process in AD, but its regulatory mechanism is largely unknown. This study was designed to investigate the presence and alterations of naturally-occurring autoantibodies against p75ECD (p75ECD-NAbs) in AD patients and their effects on AD pathology. We found that the cerebrospinal fluid (CSF) level of p75ECD-NAbs was increased in AD, and negatively associated with the CSF levels of p75ECD. Transgenic AD mice actively immunized with p75ECD showed a lower level of p75ECD and more severe AD pathology in the brain, as well as worse cognitive functions than the control groups, which were immunized with Re-p75ECD (the reverse sequence of p75ECD) and phosphate-buffered saline, respectively. These findings demonstrate the impact of p75ECD-NAbs on p75NTR/p75ECD imbalance, providing a novel insight into the role of autoimmunity and p75NTR in AD.

Mice , Animals , Alzheimer Disease/pathology , Receptor, Nerve Growth Factor , Amyloid beta-Peptides , Autoantibodies , Mice, Transgenic
Journal of Southern Medical University ; (12): 1047-1050, 2023.
Article in Chinese | WPRIM | ID: wpr-987021


OBJECTIVE@#To evaluate the value of pharmacogenetic testing for improving the efficacy and safety of treatment with cyclosporine, tacrolimus, and cyclophosphamide (CTX) for PLA2R-related membranous nephropathy and for determing individualized and precise treatment plans for the patients.@*METHODS@#A total of 63 patients with PLA2R-related membranous nephropathy hospitalized in the Department of Nephrology at our hospital from January, 2019 to October, 2021 were enrolled in this study. Thirty-three of the patients underwent pharmacogenetic testing before taking the immunosuppressive drugs selected based on the results of genetic screening for sensitive targets, and the other 30 patients were empirically given immunosuppressive drugs according to the guidelines (control group). The clinical efficacy and adverse effects of the immunosuppressive drugs were analyzed for all the patients. The two groups of patients were compared for demographic and biochemical parameters including 24-h urine protein, serum albumin, renal function, and serum anti-phospholipase A2 receptor antibody both before and at 3 months after the beginning of the treatment.@*RESULTS@#Among the 33 patients undergoing pharmacogenetic testing, 51.5% showed a GG genotype for cyclosporine, and 61.6% had an AG genotype for tacrolimus; for CTX, 51.5% of the patients showed a homozygous deletion and 63.6% had an AA genotype. After treatment for 3 months, serum anti-phospholipase A2 receptor antibody, 24-h urine protein, and serum albumin levels were significantly improved in pharmacogenetic testing group as compared with the control group (P < 0.05).@*CONCLUSION@#Individualized and precise administration of immunosuppressive drugs based on pharmacogenetic testing better controls proteinuria and serum antiphospholipase A2 receptor antibodies and increases serum albumin level in patients with PLA2R-related membranous nephropathy.

Humans , Autoantibodies , Cyclosporine/therapeutic use , Glomerulonephritis, Membranous/diagnosis , Homozygote , Immunosuppressive Agents/therapeutic use , Pharmacogenomic Testing , Receptors, Phospholipase A2 , Sequence Deletion , Serum Albumin , Tacrolimus/therapeutic use
Journal of Peking University(Health Sciences) ; (6): 558-562, 2023.
Article in Chinese | WPRIM | ID: wpr-986890


The patient was a 55-year-old man who was admitted to hospital with "progressive myalgia and weakness for 4 months, and exacerbated for 1 month". Four months ago, he presented with persistent shoulder girdle myalgia and elevated creatine kinase (CK) at routine physical examination, which fluctuated from 1 271 to 2 963 U/L after discontinuation of statin treatment. Progressive myalgia and weakness worsened seriously to breath-holding and profuse sweating 1 month ago. The patient was post-operative for renal cancer, had previous diabetes mellitus and coronary artery disease medical history, had a stent implanted by percutaneous coronary intervention and was on long-term medication with aspirin, atorvastatin and metoprolol. Neurological examination showed pressure pain in the scapularis and pelvic girdle muscles, and V- grade muscle strength in the proximal extremities. Strongly positive of anti-HMGCR antibody was detected. Muscle magnetic resonance imaging (MRI) T2-weighted image and short time inversion recovery sequences (STIR) showed high signals in the right vastus lateralis and semimembranosus muscles. There was a small amount of myofibrillar degeneration and necrosis, CD4 positive inflammatory cells around the vessels and among myofibrils, MHC-Ⅰ infiltration, and multifocal lamellar deposition of C5b9 in non-necrotic myofibrils of the right quadriceps muscle pathological manifestation. According to the clinical manifestation, imageological change, increased CK, blood specific anti-HMGCR antibody and biopsy pathological immune-mediated evidence, the diagnosis of anti-HMGCR immune-mediated necrotizing myopathy was unequivocal. Methylprednisolone was administrated as 48 mg daily orally, and was reduced to medication discontinuation gradually. The patient's complaint of myalgia and breathlessness completely disappeared after 2 weeks, the weakness relief with no residual clinical symptoms 2 months later. Follow-up to date, there was no myalgia or weakness with slightly increasing CK rechecked. The case was a classical anti-HMGCR-IMNM without swallowing difficulties, joint symptoms, rash, lung symptoms, gastrointestinal symptoms, heart failure and Raynaud's phenomenon. The other clinical characters of the disease included CK as mean levels >10 times of upper limit of normal, active myogenic damage in electromyography, predominant edema and steatosis of gluteus and external rotator groups in T2WI and/or STIR at advanced disease phase except axial muscles. The symptoms may occasionally improve with discontinuation of statins, but glucocorticoids are usually required, and other treatments include a variety of immunosuppressive therapies such as methotrexate, rituximab and intravenous gammaglobulin.

Male , Humans , Middle Aged , Autoantibodies , Myositis/diagnosis , Autoimmune Diseases , Muscle, Skeletal/pathology , Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Necrosis/pathology , Muscular Diseases/drug therapy
Chinese Journal of Internal Medicine ; (12): 705-710, 2023.
Article in Chinese | WPRIM | ID: wpr-985978


Objective: To investigate the misdiagnosis of area postrema syndrome (APS) manifesting as intractable nausea, vomiting and hiccups in neuromyelitis optic spectrum disease (NMOSD) and reduce the risk of misdiagnosis. Methods: We retrospectively analyzed data from NMOSD patients attending the Department of Neurology at the First Medical Center of PLA General Hospital between January 2019 and July 2021. SPSS25.0 was then used to analyze the manifestations, misdiagnosis, and mistreatment of APS. Results: A total of 207 patients with NMOSD were included, including 21 males and 186 females. The mean age of onset was 39±15 years (range: 5-72 years). The proportion of patients who were positive for serum aquaporin 4 antibody was 82.6% (171/207). In total, 35.7% (74/207) of the NMOSD patients experienced APS during the disease course; of these patients, 70.3% (52/74) had APS as the first symptom and 29.7% (22/74) had APS as a secondary symptom. The misdiagnosis rates for these conditions were 90.4% (47/52) and 50.0% (11/22), respectively. As the first symptom, 19.2% (10/52) of patients during APS presented only with intractable nausea, vomiting and hiccups; 80.8% (42/52) of patients experienced other neurological symptoms. The Departments of Gastroenterology and General Medicine were the departments that most frequently made the first diagnosis of APS, accounting for 54.1% and 17.6% of patients, respectively. The most common misdiagnoses related to diseases of the digestive system and the median duration of misdiagnosis was 37 days. Conclusions: APS is a common symptom of NMOSD and is associated with a high rate of misdiagnosis. Other concomitant symptoms often occur with APS. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing physical examinations are essential if we are to reduce and avoid misdiagnosis.

Male , Female , Humans , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , Aged , Neuromyelitis Optica/diagnosis , Area Postrema , Retrospective Studies , Hiccup/complications , Vomiting/etiology , Nausea/etiology , Inflammation , Syndrome , Autoantibodies , Diagnostic Errors , Aquaporin 4
Chinese Journal of Internal Medicine ; (12): 356-362, 2023.
Article in Chinese | WPRIM | ID: wpr-985933


Standardisation and harmonisation of the detection of autoantibodies is important for the clinical application of autoantibodies. However, achieving complete standardisation is difficult and involves several challenges due to the complexity and particularity of autoantibody detection. Harmonisation is feasible and valued, but it involves all aspects and processes of autoantibody detection. Based on the consensus and practice of the clinical application of autoantibody detection in recent years, we discuss harmonisation in this review.

Humans , Autoantibodies , Reference Standards
Chinese Journal of Contemporary Pediatrics ; (12): 67-72, 2023.
Article in Chinese | WPRIM | ID: wpr-971041


OBJECTIVES@#To study the clinical features of children with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).@*METHODS@#A retrospective analysis was performed on the medical data of 34 children with GFAP-A who attended the Department of Neurology, Children's Hospital of Chongqing Medical University, from January 2020 to February 2022. The medical data included clinical manifestations, cerebrospinal fluid features, imaging examination results, treatment, and prognosis.@*RESULTS@#The median age of onset was 8.4 (range 1.9-14.9) years for the 34 children with GFAP-A. The main clinical manifestations included headache (50%, 17/34), fever (47%, 16/34), visual impairment (47%, 16/34), and disturbance of consciousness (44%, 15/34). Abnormal cerebrospinal fluid results were observed in 19 children (56%, 19/34), among whom 8 children had positive autoantibody. The children with overlap syndrome had significantly higher recurrence rate and rate of use of immunosuppressant than those without overlap syndrome (P<0.05). About 77% (24/31) of the children had good response to immunotherapy, and only 1 child had poor prognosis.@*CONCLUSIONS@#Children with GFAP-A often have non-specific clinical symptoms and show good response to immunotherapy. Children with overlap syndrome have a high recurrence rate, and early application of immunosuppressants may help to prevent recurrence and alleviate symptoms.

Adolescent , Child , Child, Preschool , Humans , Infant , Astrocytes/metabolism , Autoantibodies/metabolism , Glial Fibrillary Acidic Protein/metabolism , Prognosis , Retrospective Studies , Autoimmune Diseases/metabolism
Chinese Medical Sciences Journal ; (4): 66-69, 2023.
Article in English | WPRIM | ID: wpr-981586


Both anti-glomerular basement membrane (GBM) disease and the anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) are common causes of pulmonary-renal syndrome. Organizing pneumonia (OP), a special pattern of interstitial lung disease, is extremely rare either in AAV or anti-GBM disease. We report an old woman presented with OP on a background of co-presentation with both ANCA and anti-GBM antibodies.

Female , Humans , Antibodies, Antineutrophil Cytoplasmic , Organizing Pneumonia , Autoantibodies , Glomerulonephritis , Anti-Glomerular Basement Membrane Disease , Pneumonia , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/complications
Acta Academiae Medicinae Sinicae ; (6): 235-244, 2023.
Article in Chinese | WPRIM | ID: wpr-981258


Objective To investigate the clinical significance of thrombospondin type 1 domain-containing 7A (THSD7A) and neural epidermal growth factor-like 1 protein (NELL1) in phospholipase A2 receptor (PLA2R)-negative membranous nephropathy (MN). Methods A total of 116 PLA2R-negative MN patients treated in Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University from 2014 to 2021 were enrolled in this study.Immunohistochemistry was employed to detect THSD7A and NELL1 in the renal tissue.The pathological characteristics,treatment,and prognosis were compared between positive and negative groups. Results The 116 PLA2R-negative MN patients included 23 THSD7A-positive patients and 9 NELL1-positive patients.One patient was tested positive for both proteins.The THSD7A-positive group showed higher positive rate of IgG4 (P=0.010),more obvious glomerular basement membrane (GBM) thickening (P=0.034),and higher proportion of stage Ⅱ MN and lower proportion of stage I MN (P=0.002) than the THSD7A-negative group.The NELL1-positive group had lower positive rates of C1q and IgG2 (P=0.029,P=0.001),less obvious GBM thickening (P<0.001),more extensive inflammatory cell infiltration (P=0.033),lower proportion of deposits on multi-locations (P=0.001),and lower proportion of atypical MN (P=0.010) than the NELL1-negative group.One patient with THSD7A-positive MN was diagnosed with colon cancer,while none of the NELL1-positive patients had malignancy.Survival analysis suggested that THSD7A-positive MN had worse composite remission (either complete remission or partial remission) of nephrotic syndrome than the negative group (P=0.016),whereas NELL1-positive MN exhibited better composite remission of nephrotic syndrome than the negative group (P=0.015).The MN patients only positive for NELL1 showed better composite remission of nephrotic syndrome than the MN patients only positive for THSD7A (P<0.001). Conclusions THSD7A- and NELL1-positive MN is more likely to be primary MN,and there is no significant malignancy indication.However,it might have a predictive value for the prognosis of MN.

Humans , Autoantibodies , Clinical Relevance , Colonic Neoplasms , EGF Family of Proteins , Glomerulonephritis, Membranous/diagnosis , Nephrotic Syndrome , Receptors, Phospholipase A2/metabolism , Thrombospondins/metabolism
Rev. chil. enferm. respir ; 39(2): 138-143, 2023. tab, graf
Article in Spanish | LILACS | ID: biblio-1515113


Introducción: Las Enfermedades Pulmonares Intersticiales (EPI) afectan principalmente al intersticio pulmonar, con importante morbimortalidad asociada. Tienen un espectro de posibles etiologías que es cada vez más amplio. Hay una importante causalidad a partir de Enfermedades del Tejido Conectivo (ETC), describiéndose cada vez más casos asociados a Síndrome Antisintetasa, y con diversos patrones radiológicos según serología obtenida, agrupada en "Panel de Miositis" (PaM). El presente estudio de cohorte retrospectiva reúne PaMs realizados en el Hospital Santiago Oriente, correlacionando resultados con manifestaciones clínicas e imagenológicas. Material y Métodos: Se recuperaron 33 PaMs realizados entre 2017 y 2022, y a través de revisión de fichas de los pacientes de quienes provenían las PaMs se consignaron las principales manifestaciones clínicas, imagenológicas y de la serología reumatológica complementaria, estableciendo correlaciones entre múltiples variables. Resultados: Hubo 15 pacientes PaM positivos (45,4%), 8 de ellos (53%) ya contaban con alguna miopatía inflamatoria diagnosticada. Los principales hallazgos clínicos consignados fueron pápulas de Gottron, artritis, eritema heliotropo, Fenómeno de Raynaud y fiebre. El anticuerpo positivo más frecuente fue Ro-52. Se pudo objetivar ANA positivo en 10 casos (66,7%). Se identificó EPI en 66,7% de aquellos con PaM positivo, siendo la Neumonía Intersticial no específica fibrótica con Neumonía en Organización la manifestación más frecuente. No hubo asociación significativa entre manifestaciones imagenológicas y anticuerpos específicos. Se encontró ANA 1/80 en 66,7% de los casos, lo cual no se asoció a mayor riesgo de EPI. Conclusiones: Existe asociación entre varias ETC y las EPI. Destaca la importancia de los hallazgos clínicos para establecer un adecuado índice de sospecha, para dirigir oportunamente el estudio complementario (ej: PaM), y la eventual terapia específica.

Introduction: Interstitial Lung Diseases (ILD) mainly affect the pulmonary interstitium, with significant associated morbidity and mortality. They have a spectrum of possible etiologies that is increasingly broad. There is an important causality from Connective Tissue Diseases (CTD), describing more and more cases associated with Antisynthetase Syndrome, and with different radiological patterns according to the serology obtained, enclosed into "Panel of Myositis" (PaM). This retrospective cohort study gathers PaMs performed at Hospital Santiago Oriente, PaM results are correlated with clinical and imaging manifestations. Material and Methods: 33 PaMs performed between 2017 and 2022 were saved up and by reviewing the clinical records of the patients from whom the PaMs came, their clinical and radiological manifestations and the results of their complementary rheumatological serology were recorded to establish correlations between multiple variables. Results: There were 15 positive PaMs (45.4%), 8 (53%) of them already had some diagnosed inflammatory myopathy. The main clinical findings reported were Gottron's papules, arthritis, heliotrope erythema, Raynaud's phenomenon, and fever. The most frequent positive antibody detected was Ro-52. Positive ANA could be found in 10 cases (66.7%). PID was identified in 66.7% of those with a positive PaM, being non-specific fibrotic Interstitial Pneumonia with Organizing Pneumonia being the most frequent manifestation. There was no significant association between imaging manifestations and specific antibodies. ANA 1/80 was found in 6.7% of the cases, which was not associated with an increased risk of PID. Conclusions: There is association between several CTEs and EPIs. It is necessary to highlight the importance of the clinical findings to establish an adequate index of suspicion, in order to timely direct the complementary study (eg: PaM), and the eventual specific therapy.

Humans , Male , Female , Middle Aged , Aged , Lung Diseases, Interstitial/diagnosis , Myositis/diagnosis , Autoantibodies , Retrospective Studies , Lung Diseases, Interstitial/immunology , Lung Diseases, Interstitial/diagnostic imaging , Connective Tissue Diseases , Amino Acyl-tRNA Synthetases , Myositis/immunology , Myositis/diagnostic imaging
Rev. Soc. Argent. Diabetes ; 56(suple. 2): 15-18, may. - ago. 2022. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1396180


La diabetes mellitus (DM) es una enfermedad heterogénea que presenta fenotipos clínicos diversos, todos con hiperglucemia. Históricamente se han utilizado cuatro factores para identificar esta diversidad: la edad de inicio, la gravedad de la enfermedad o grado de pérdida de la función de la célula beta, el grado de resistencia a la insulina y la presencia de autoanticuerpos asociados a la enfermedad. Actualmente, los parámetros empleados para clasificar los diferentes tipos de DM dificultan el diagnóstico y tratamiento de los pacientes. Las distintas presentaciones clínicas requieren una clasificación diagnóstica más eficaz para un abordaje terapéutico más preciso, valiéndose del avance de la inmunogenética y la bioquímica clínica. Esta guía está orientada a clasificar con precisión las presentaciones clínicas que a menudo generan incertidumbre dentro de los dos tipos principales de DM.

Diabetes mellitus (DM) is a heterogeneous disease, with diverse clinical phenotypes, all with hyperglycemia. Historically, four factors have been used to identify this diversity: the age at onset, the severity of the disease, that is, the degree of loss of beta cell function and insulin resistance, and the presence of circulating autoantibodies. Currently, the parameters used to classify the different types of DM make it difficult to diagnose and treat patients. The different clinical manifestations require an accurate diagnosis to achieve an effective therapeutic approach through the use of immunogenetics and clinical biochemistry. This practical guide aims to accurately classify the often uncertain clinical presentations within the two main types of diabetes.

Diabetes Mellitus , Autoantibodies , Autoimmunity , Genetics
Arch. argent. pediatr ; 120(4): 281-287, Agosto 2022. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1373110


La hepatitis autoinmunitaria es una enfermedad inflamatoria crónica del hígado caracterizada por una interacción compleja entre factores genéticos, respuesta inmunitaria a antígenos presentes en los hepatocitos y alteraciones de la regulación inmunitaria. Presenta una distribución global, con predominio en individuos de sexo femenino. Se clasifica en dos grupos, según el tipo de autoanticuerpos séricos detectados. La forma de presentación más frecuente es la hepatitis aguda (40 %), con síntomas inespecíficos, elevación de aminotransferasas e hipergammaglobulinemia. El tratamiento estándar consiste en la administración de fármacos inmunosupresores. Es una patología compleja, a veces difícil de diagnosticar. Si no se trata de manera adecuada, la mortalidad puede alcanzar el 75 % a los 5 años de evolución.

Autoimmune hepatitis (AIH) is a chronic inflammatory condition of the liver characterized by a complex interaction among genetic factors, immune response to antigens present in hepatocytes, and immune regulation alterations. Its distribution is global and there is a female predominance. AIH is divided into 2 groups, depending on the type of serum autoantibodies detected. The most common presentation is acute hepatitis (40%), with nonspecific symptoms, high aminotransferase levels, and hypergammaglobulinemia. Standard treatment consists of the administration of immunosuppressive drugs. It is a complex condition, often difficult to diagnose. If not managed adequately, the 5-year mortality rate may reach 75%.

Humans , Child , Hepatitis, Autoimmune/diagnosis , Hepatitis, Autoimmune/therapy , Gastroenterology , Autoantibodies , Latin America
Rev. med. Chile ; 150(7): 889-895, jul. 2022. tab
Article in Spanish | LILACS | ID: biblio-1424157


BACKGROUND: Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic disease, which can progress to cirrhosis. It mainly affects middle-aged women. Its most frequent form of presentation is asymptomatic with biochemical cholestasis and the presence of antimitochondrial antibodies (AMA). AIM: To describe the epidemiological characteristics, clinical presentation and treatment for patients with PBC at a clinical hospital. MATERIAL AND METHODS: Descriptive, observational, retrospective study, carried out between January 2015 and December 2020. Results: 179 patients (158 women) were cared in the study period. At the time of diagnosis, the median age was 54 years (range 24-76), 55% of them were asymptomatic, 45% had fatigue and 28% had pruritus. Positive AMA were present in 65% of patients, antinuclear antibodies (ANA) in 51%, and anti-smooth muscle antibodies (ASMA) in 9%. Immunoglobulin M (IgM) was elevated in 30% of the patients and 50% of patients were biopsied. Splenomegaly and esophageal varices were present in 24 and 22% of patients, respectively. PBC was associated with Sjogren's syndrome in 15%, hypothyroidism in 14%, osteoporosis in 13%, and scleroderma in 8%. CONCLUSIONS: The epidemiological characteristics of our patients agree with those published abroad. Laboratory cholestasis associated with the presence of AMA, currently allows diagnosis without the need for histological study. Ursodeoxycholic acid (UDCA) is the first-line treatment for patients with PBC. The use of biochemical response criteria is essential to identify patients who require other UDCA alternatives for isolated or combined treatment.

Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Autoimmune Diseases/drug therapy , Cholestasis , Liver Cirrhosis, Biliary/complications , Liver Cirrhosis, Biliary/diagnosis , Liver Cirrhosis, Biliary/epidemiology , Autoantibodies , Ursodeoxycholic Acid/therapeutic use , Retrospective Studies
Rev. med. Chile ; 150(6): 828-831, jun. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1424126


Renal involvement in COVID-19 infection is varied and worsens its outcome and prognosis. However, the association of COVID-19 infection with glomerulonephritis is exceptional. We report a 46-year-old woman with COVID-19 who had an acute kidney injury and ANCA associated glomerulonephritis two weeks after the onset of the disease. The kidney biopsy showed a crescentic glomerulo-nephritis and the presence of anti-glomerular basement membrane antibodies (GBM-Abs). She was treated with steroids and oral cyclophosphamide with good response without requiring plasmapheresis. Plasma anti GBM-Abs were negative. This case suggests that the presence of anti-GBM-Abs in the kidney, was temporally related to COVID-19 pulmonary damage. The absence of plasma antibodies is probably due to transient production and glomerular adsorption, but with unknown pathogenic role.

Humans , Female , Middle Aged , COVID-19/complications , Glomerulonephritis/complications , Autoantibodies , Basement Membrane/pathology , Antibodies, Antineutrophil Cytoplasmic
Rev. cuba. med ; 61(2): e2637, abr.-jun. 2022. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1408993


Introducción: Los autoanticuerpos anti-insulina (AAI) representan un marcador serológico de la diabetes tipo 1 (DT1). El significado clínico de los AAI aún no ha sido determinado en la población cubana. Objetivo: Determinar el valor clínico de AAI en pacientes con DT1. Métodos: Se determinaron los niveles séricos de AAI por el ensayo inmuno-adsorbente ligado a enzima (ELISA) en 33 pacientes adultos con DT1, 78 pacientes con otras condiciones endocrinas (CEE) como diabetes tipo 2, tiroiditis de Hashimoto e hiperinsulinemia, y 49 controles normales (CN). El valor de corte se determinó con el análisis de las curvas características operativas del receptor (COR) (ROC por sus siglas en inglés). Se utilizaron pruebas no paramétricas para comparar los niveles de AAI de pacientes con DT1, CEE y CN, y determinar la correlación entre AAI y la edad. Resultados: El valor de corte óptimo de AAI para DT1 fue el índice de 1,05, con sensibilidad de 45,5 por ciento, especificidad de 81,6 por ciento, razón de verosimilitud positiva de 2,47, y razón de verosimilitud negativa de 0,67. Los niveles de AAI en DT1 (índice de 0,97) fueron significativo, más altos que los de CN (índice de 0,70; p=0,020) y los de CEE (índice de 0,63; p= 0,009). Los niveles de AAI resultaron inversamente proporcionales a la edad en pacientes diabéticos ( =-0,252; p=0,030). Conclusiones: Los pacientes con DT1 se distinguieron por niveles más altos de AAI, aunque la presencia de estos anticuerpos no fue exclusiva de DT1. Los niveles de AAI dependieron de la edad en los pacientes diabéticos(AU)

Introduction: Anti-insulin autoantibodies (AAI) represent a serological marker of type 1 diabetes (T1D). The clinical significance of AAIs has not yet been determined in the Cuban population. Objective: To determine the clinical value of AAI in patients with T1D. Methods: AAI serum levels were determined by enzyme-linked immunosorbent assay (ELISA) in 33 adult patients with T1D, 78 patients with other endocrine conditions (CEE) such as type 2 diabetes, Hashimoto's thyroiditis, and hyperinsulinemia, and 49 normal controls (CN). The cut-off value was determined by receiver operating characteristic (ROC) curve analysis. Nonparametric tests were used to compare the AAI levels of patients with T1D, CEE, and CN, and to determine the correlation between AAI and age. Results: AAI optimal cut-off value for T1D was the index of 1.05, with 45.5 percent of sensitivity, 81.6 percent specificity, 2.47 positive likelihood ratio, and 0.67 negative likelihood ratio. AAI levels in DT1 (index of 0.97) were significant, higher than those of CN (index of 0.70; p= 0.020) and CEE levels (index of 0.63; p= 0.009). AAI levels were inversely proportional to age in diabetic patients (ρ = -0.252; p=0.030). Conclusions: Patients with T1D were distinguished by AAI higher levels, although the presence of these antibodies was not exclusive to T1D. AAI levels depended on age in diabetic patients(AU)

Humans , Male , Female , Autoantibodies , Enzyme-Linked Immunosorbent Assay/methods , Diabetes Mellitus, Type 1/epidemiology , Cuba , Insulin Antibodies
J. coloproctol. (Rio J., Impr.) ; 42(1): 20-24, Jan.-Mar. 2022. tab
Article in English | LILACS | ID: biblio-1375757


Background: Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. Celiac disease (CD), a treatable autoimmune enteropathy, with varied presentations, may simulate clinically symptoms of IBS. The aim of the present study is to screen for CD in patients with IBS diagnosed based on the Rome III criteria. Patients and Methods: A cross-sectional study was conducted at a secondary care gastrointestinal unit in Al-Salam General Hospital in Mosul city, Iraq, from November 2015 to October 2016. All patients fulfilling the Rome III criteria for IBS were screened for CD using antitissue transglutaminase IgA antibodies (anti-tTG). Patients who tested positive were subjected to endoscopic duodenal biopsy to confirm the diagnosis of CD. Results: A total of 100 patients were included in the present study (58 female and 42 male), the mean age of the participants was 40.8 years old (standard deviation [SD]±11.57). Ten patients (10/100, 10%) tested positive for anti-tTG antibodies. Five of the seropositive patients (5/10, 50%) showed positive biopsy results according to the Marsh classification, 3 of whom having diarrhea, and 2 with constipation. Conclusion: Positive serology and biopsy results suggestive of CDare common among patients with IBS. Screening patients with IBS for CD is justified. (AU)

Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Celiac Disease/diagnosis , Irritable Bowel Syndrome , Autoantibodies/analysis , Cross-Sectional Studies , Diagnosis, Differential
Arch. argent. pediatr ; 120(1): e43-e48, feb 2022. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1353825


La encefalitis por anticuerpos contra el receptor N-metilD-aspartato es un proceso inmunomediado en el que autoanticuerpos se dirigen contra la subunidad GluN1 del receptor de glutamato del sistema nervioso central. Se caracteriza por la aparición aguda o subaguda de síntomas psiquiátricos, como confusión, pérdida de la memoria a corto plazo, cambios de conducta, catatonía, seguidos por manifestaciones neurológicas, tales como convulsiones, alteraciones del movimiento, disfunciones autonómicas, coma y depresión respiratoria. Es grave y potencialmente mortal. Su asociación con teratoma de ovario como síndrome paraneoplásico fue descrita en mujeres jóvenes. En la población pediátrica, es mucho menos frecuente y se reporta en comunicaciones de 1 o 2 pacientes y en series de pocos casos. Se presenta una paciente de 13 años con encefalitis paraneoplásica por anticuerpos contra el receptor N-metil-Daspartato, secundaria a un teratoma ovárico maduro.

The encephalitis due to antibodies against the N-methylD-aspartate receptor is a process immune-mediated in which antibodies are directed against the GluN1 subunit of the glutamate receptor in the central nervous system. It is characterized by an acute or subacute onset of psychiatric symptoms such as confusion, short-term memory loss, behavioral changes, catatonia followed by neurological manifestations such as seizures, movement disturbances, autonomic dysfunctions, coma, and respiratory depression. It is serious and life threatening. Its association with ovarian teratoma as a paraneoplastic syndrome was described in youngwomen. In the pediatric population it is much less frequent and is reported in publications of one or two patients and in series of few cases. We present a 13-year-old patient with encephalitis paraneoplastic due to antibodies against the N-methyl-Daspartate receptor, secondary to a mature ovarian teratoma.

Humans , Female , Adolescent , Ovarian Neoplasms/complications , Ovarian Neoplasms/diagnosis , Teratoma/complications , Teratoma/diagnosis , Encephalitis , Autoantibodies , Receptors, N-Methyl-D-Aspartate
Chinese Journal of Hematology ; (12): 311-315, 2022.
Article in Chinese | WPRIM | ID: wpr-935087


Objective: To evaluate the clinical characteristics, treatment, and prognosis of patients with paraneoplastic neurological syndrome (PNS) associated with lymphoma. Methods: Between January 2012 and May 2021, the clinical data of 11 patients with lymphoma complicated with PNS treated at Peking Union Medical College Hospital were retrospectively reviewed. Results: Among the 11 patients (8 male and 3 female) , the median onset age was 61 (range, 33-78) years. The symptoms of PNS preceded lymphoma in 10 patients. The median time from the onset of PNS to the diagnosis of lymphoma was 4 months. Of the 11 patients, one had Hodgkin's lymphoma, 8 had B-cell non-Hodgkin's lymphoma, and 2 had peripheral T-cell lymphoma. Seven patients were evaluated for onconeural antibody, of whom 2 were positive (1 for anti-Ma2 antibody and 1 for anti-Yo antibody) . Of the 11 patients, the PNS symptoms of 3 patients were located in the central nervous system, 4 were located in the peripheral nervous system, and 3 were located in the muscle. Eight of the 11 patients were treated with glucocorticoid-based immunosuppressive therapy before the diagnosis of lymphoma. Patients with central nervous system involvement and dermatomyositis responded well to glucocorticoid, whereas patients with peripheral neuropathy did not significantly benefit. All 11 patients were treated with chemotherapy after the diagnosis of lymphoma. The efficacy of chemotherapy was assessed in 9 patients, 7 cases achieved complete remission, 1 case was evaluated as stable disease, and 1 case was evaluated as disease progression. The PNS symptoms of the patients who achieved complete response were almost completely recovered. The median follow-up time was 42 (range, 4-95) months. At the end of the follow-up period, 6 of the 11 patients survived, 3 were lost to follow-up, and 2 died. The median overall survival of the whole group was not reached. Conclusions: PNS can involve various parts of the nervous system and can be associated with different types of lymphoma. Through early diagnosis and treatment, the PNS symptoms could improve in most patients who achieve complete remission of lymphoma.

Adult , Aged , Female , Humans , Male , Middle Aged , Antibodies, Neoplasm , Autoantibodies , Glucocorticoids , Lymphoma/diagnosis , Paraneoplastic Syndromes, Nervous System/complications , Retrospective Studies