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Dermatomyositis is a heterogeneous systemic disease, with 7% to 10% of the individuals presenting the Anti MDA-5 antibody. This subset of patients has clinically amyotropic dermatomyositis, presenting with cutaneous ulcer and rapidly progressive interstitial lung disease. We report the case of a 22-year-old male with a six-month history of low-grade fever associated with myalgia, polyarthralgia, and marked weight loss. He had a history of shortness of breath and high-grade fever 15 days before admission. His clinical features and imaging workup were consistent with acute respiratory distress syndrome. A nasal swab was positive for H1N1 influenza virus infection. During the disease investigation, he succumbed after nine days of admission. The autopsy examination showed diffuse alveolar damage on a background of non-specific interstitial pattern of injury in the lungs. His postmortem muscle biopsy revealed subtle changes of inflammatory myopathy. The brain showed diffuse subarachnoid hemorrhage. Evaluation of postmortem serum sample revealed positivity for Anti MDA-5 and Ro-52 antibodies. This was a case of Anti MDA-5 and Ro-52 associated dermatomyositis with non-specific interstitial pneumonia pattern of lung injury complicated with H1N1 influenza pneumonia, leading to diffuse alveolar damage and subsequent respiratory failure and death. Serum Anti MDA-5 antibodies represent an important biomarker for diagnosing and predicting prognosis for patients with idiopathic inflammatory myopathies, especially clinically amyopathic dermatomyositis. Anti-Ro-52 has been reported in a wide variety of autoimmune diseases, particularly in myositis, scleroderma, and autoimmune liver diseases. Ro-52 autoantibodies are associated with interstitial lung disease (ILD), and their presence should encourage the clinician's curiosity to search for ILD.
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Purpose: To describe the successful closure of an idiopathic macular hole (MH) with topical therapy after surgery failed. Methods: A case report was evaluated and prospective literature review performed. Results: After surgery to correct an MH in a 57-year-old female patient failed, topical therapy was initiated. MH closure was successful using this modality. Conclusions: There are few reports in the literature describing successful closure of an idiopathic full-thickness MH with topical therapy after initial surgery fails. This reinforces the importance of the "hydration" hole in this disease. Characterization with optical coherence tomography may help determine which patients could benefit from topical treatment for MH closure and avoid costly and invasive surgical procedures.
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Idiopathic popliteal artery pseudoaneurysms are exceedingly rare, posing significant diagnostic challenges due to their elusive etiology. This report presents the case of a 78-year-old female with no history of trauma or orthopedic procedures who was diagnosed with a large pulsatile mass in the right popliteal fossa. Arteriography confirmed a popliteal artery pseudoaneurysm. Despite extensive clinical evaluation, no causative factors were identified, suggesting an idiopathic diagnosis. The patient underwent open surgical repair using a posterior approach, during which the popliteal artery defect was closed using a bovine pericardium patch. Postoperative follow-up revealed proximal patch stenosis, necessitating angioplasty. This case underscores the need for comprehensive diagnostic evaluation of atypical pseudoaneurysm presentations and highlights the complexities involved in managing idiopathic cases, emphasizing the importance of postoperative follow-up to address potential complications.
Pseudoaneurismas idiopáticos da artéria poplítea são extremamente raros, apresentando desafios diagnósticos significativos devido à sua etiologia desconhecida. Este relato apresenta uma paciente de 78 anos, sem histórico de trauma ou procedimentos ortopédicos, diagnosticada com uma grande massa pulsátil na fossa poplítea direita. A arteriografia confirmou um pseudoaneurisma da artéria poplítea. Apesar de uma avaliação clínica extensa, nenhum fator causal foi identificado, levando ao diagnóstico idiopático. A paciente foi submetida a reparo cirúrgico aberto usando uma abordagem posterior, e o defeito da artéria poplítea foi fechado com um remendo de pericárdio bovino. O acompanhamento pós-operatório revelou estenose proximal do remendo, necessitando de angioplastia. Este caso evidencia a necessidade de avaliações diagnósticas abrangentes em apresentações atípicas de pseudoaneurisma e destaca as complexidades do manejo de casos idiopáticos, enfatizando a importância do acompanhamento pós-operatório para abordar complicações potenciais.
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Introduction: The aim of this study was to determine the safety and effectiveness of mirabegron in children with refractory overactive bladder (OAB) for improving urinary symptoms. Material and methods: We conducted a search strategy in MEDLINE (OVID), EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), and LILACS from inception to September 2023. We performed a systematic review of studies evaluating the effectiveness of improving urinary symptoms and the safety of mirabegron at any dose in children and adolescents with idiopathic refractory OAB. We searched the interception to September 2023. The risk of bias was assessed using the Cochrane risk of bias tool for clinical trials and the MINORS tool for non-randomized studies. Results: We included three studies in the analysis. All of them included children and adolescents receiving mirabegron as monotherapy at different doses. Also, none of them reported a control group. Improvement and safety rates were high in every study in objective and subjective measurements. Compliance was also high in all studies. Most of the evaluated items had a low risk of bias within and across studies. Conclusions: Mirabegron as monotherapy appears to be a safe and effective alternative for children with refractory idiopathic OAB or those who are intolerant to antimuscarinic therapy.
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BACKGROUND: Chiari malformation type I(CM-I) is one of the most common neurological malformations observed in patients with adolescent idiopathic scoliosis (AIS). It remains uncertain whether AIS patients without neurological symptoms require CM-I decompression before undergoing spinal corrective surgery to prevent cerebellar tonsil herniation and potential neurological complications. This study aims to assess variations in the position of the cerebellar tonsil after posterior spinal fusion (PSF) in neurologically intact patients with AIS. METHODS: We retrospectively evaluated 40 patients with AIS who underwent posterior spinal fusion (PSF) without neurological symptoms. Sagittal hindbrain MRIs were performed before and after spinal surgery. The cerebellar tonsil's position relative to the foramen magnum was measured using the method described by Aboulezz (J Comput Assist Tomogr 1985). We assessed variations in the cerebellar tonsil position concerning spinal correction and elongation after PSF. RESULTS: The average preoperative magnitude of the scoliotic curve was 53.15 degrees (SD 10.46 degrees), and that of thoracic kyphosis was 35.42 degrees (SD 12.38 degrees). In the immediate postoperative period, the average magnitudes were 7.45 degrees (SD 7.33 degrees) and 27.87 degrees (SD 9.03 degrees), respectively. The average correction achieved with PSF was 86% in the coronal plane (p < 0.00001). The average length of the spine in the coronal plane was 44.5 cm (SD 5.25 cm) preoperatively and 48.27 cm (SD 4.40 cm) postoperatively (p < 0.00001). The average length of the vertebral column in the sagittal plane was 50.87 cm (SD 4.47 cm) preoperatively and 55.13 cm (SD 3.27 cm) postoperatively (p < 0.00001). No significant difference was observed in the position of the cerebellar tonsil in the measurements taken before and after spinal deformity correction (p = 0.6042). In 10 out of 40 patients, caudal displacement of the cerebellar tonsil was observed after PSF. In 28 patients, no variation in the position of the cerebellar tonsil was observed, and in 2, cephalic displacement was noted. CONCLUSION: In AIS patients with a normal position of the cerebellar tonsil undergoing posterior spinal fusion, there is no significant change in their position after surgery. Our analysis did not reveal any correlation between curve correction, spine elongation, and variations in the cerebellar tonsil position. SIGNIFICANCE: The position of the cerebellar tonsil remained largely unchanged after PSF in AIS patients without neurological symptoms. Further studies would be necessary to determine whether surgical decompression is required in asymptomatic patients with CM-I before undergoing surgery to correct spinal deformity.
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BACKGROUND: Swallowing is a complex process that requires the coordination of muscles in the mouth, pharynx, larynx, and esophagus. Dysphagia occurs when a person has difficulty swallowing. In the case of subjects with respiratory diseases, the presence of oropharyngeal dysphagia potentially increases lung disease exacerbations, which can lead to a rapid decline in lung function. This study aimed to analyze the swallowing of patients with idiopathic pulmonary fibrosis (IPF). METHODS: Patients with IPF were evaluated using the Eating Assessment Tool (EAT-10), tongue pressure, the Timed Water Swallow Test (TWST), and the Test of Mastication and Swallowing Solids (TOMASS). The findings were related to dyspnea severity assessed by the modified Medical Research Counsil (mMRC) score; the nutritional status screened with Mini Nutritional Assessment (MNA) tool; and pulmonary function tests, specifically spirometry and measurement of the diffusing capacity for carbon monoxide (DLCO), the maximal inspiratory pressure (PImax), and the maximal expiratory pressure (PEmax). RESULTS: The sample consisted of 34 individuals with IPF. Those who exhibited swallowing modifications scored lower on the MNA than those who did not (9.6 ± 0.76 vs. 11.64 ± 0.41 points; mean difference 1.98 ± 0.81 points; p = 0.02). They also showed poorer lung function when considering the predicted force vital capacity (FVC; 81.5% ± 4.61% vs. 61.87% ± 8.48%; mean difference 19.63% ± 9.02%; p = 0.03). The speed of liquid swallowing was altered in 31of 34 of the evaluated subjects (91.1%). The number of liquid swallows correlated significantly with the forced expiratory volume in 1 s (FEV1)/FVC ratio (r = 0.3; p = 0.02). Solid eating and swallowing assessed with the TOMASS score correlated with lung function. The number of chewing cycles correlated negatively with PImax% predicted (r = -0.4; p = 0.0008) and PEmax% predicted (r = -0.3; p = 0.02). FVC% predicted correlated with increased solid swallowing time (r = -0.3; p = 0.02; power = 0.6). Swallowing solids was also impacted by dyspnea. CONCLUSION: Patients with mild-to-moderate IPF can present feeding adaptations, which can be related to the nutritional status, lung function, and the severity of dyspnea.
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Trastornos de Deglución , Deglución , Fibrosis Pulmonar Idiopática , Lengua , Humanos , Masculino , Femenino , Anciano , Fibrosis Pulmonar Idiopática/fisiopatología , Fibrosis Pulmonar Idiopática/complicaciones , Deglución/fisiología , Trastornos de Deglución/fisiopatología , Trastornos de Deglución/etiología , Persona de Mediana Edad , Lengua/fisiopatología , Pruebas de Función Respiratoria , Presión , Estado Nutricional , Pulmón/fisiopatología , Disnea/fisiopatología , Disnea/etiología , Evaluación Nutricional , Anciano de 80 o más AñosRESUMEN
Background: Open cell stents (OC) and closed cell stents (CC) each offer unique advantages and potential drawbacks in the context of idiopathic intracranial hypertension (IIH) treatment. We aim to investigate the safety and efficacy of using OC and CC for IIH.Methods: We conducted a systematic review in PubMed, Embase, and Cochrane Library databases following the PRISMA guidelines. Eligible studies included ≥4 patients with IIH treated by OC or CC. Primary outcomes were headache, visual acuity, and papilledema status before and after the procedure. Additionally, failure rate, minor complications, major complications, and total complications were assessed. Pooled analysis of the OC group and CC group were done separately and then compared.Results: Twenty-four studies were included. Of these, 20 reported on OC and 6 reported on CC. Pooled analysis of failure rate was 8% (4%-12%) in OC and 5% (0%-11%) in CC. For headache improvement rate: 78% (70%-86%) in OC and 81% (66%-69%) in CC. For visual acuity improvement: 78% (65%-92%) in OC and 76% (29%-100%) in CC. For papilledema improvement: 88% (77%-98%) in OC and 82% (67%-98%) in CC. For minor complications: 0% (0%-1%) in OC and 0% (0%-2%) in CC. For major complications: 0% (0%-1%) in OC and 2% (0%-6%) in CC. Total complications: 0% (0%-1%) in OC and 2% (0%-6%) in CC.Conclusion: Low failure and complication rates were found in both OC and CC, with no significant difference between them in effectiveness. The CC showed a slight but significant increase in major and total complications compared to the OC. Additionally, a subtle yet significantly lower failure rate was identified in the CC.
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No published studies have investigated the correlation between religiosity, spirituality, mental health, and idiopathic inflammatory myopathy (IIM) or systemic autoimmune myopathy. Therefore, we aimed to evaluate the association between religiosity/spirituality, sociodemographic factors, and the mental health of IIM patients. This is a multicenter case-control study that included 151 patients with IIMs and 95 individuals without autoimmune diseases (controls), held between August 2022 and April 2023. This study used a semi-structured questionnaire that included sociodemographic information and the juxtaposition of the following questionnaires: the Attitudes Related to Spirituality Scale (ARES); the Duke University Religion Index (DUKE), which is composed of the organizational religious affiliation (ORA), non-organizational religious affiliation (NORA), and intrinsic religiosity (IR) domains; and the General Health Questionnaire-12 (GHQ-12). Data were analyzed using Epi Info software 7.2.5 (Centers for Disease Control and Prevention, Atlanta, GA, USA). A comparison between the mean values of the ARES, DUKE, and GHQ-12 scales was made using the Wilcoxon-Mann-Whitney and Kruskal-Wallis tests. A logistic regression test was used with the variables whose difference was statistically significant in the univariate analysis. Correlation analysis was performed using the Spearman rho coefficient. A higher prevalence of evangelicals and a lower prevalence of Catholics (p < 0.050) were seen in the IIM group compared to controls. Positive association was demonstrated between IIMs and the pardo ethnicity (OR = 2.26, 95% CI = 1.20-4.25, p = 0.011), highest ORA (OR = 2.81, 95% CI = 1.53-5.15, p < 0.001), NORA (OR = 3.99, 95% CI = 1.94-8·18, p < 0.001), IR (OR = 5.27, 95% CI = 2.32-11.97, p < 0.001), and ARES values (OR = 1.08, 95% CI = 1.04-1.13, p < 0.001). Mental health levels were compared between the groups (p > 0.999). Therefore, higher levels of religiosity and spirituality were observed in the IIM group than in the control group, but there was a similar distribution of mental health levels. The following can be cited as advantages of the present study: (i) the large sample for a rare disease with the presence of a control group; (ii) the multicenter characteristic with participation from three regions of Brazil; (iii) being the first study to map aspects of religiosity, spirituality, and mental health in IIMs.
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Salud Mental , Religión , Espiritualidad , Humanos , Estudios de Casos y Controles , Masculino , Femenino , Persona de Mediana Edad , Brasil/epidemiología , Adulto , Miositis/psicología , Anciano , Encuestas y CuestionariosRESUMEN
Background: Idiopathic spinal cord herniation (ISCH) is a rare condition that is characterized by ventral herniation of the spinal cord through a defect in the dura mater into the epidural space, with no identifiable cause. ISCH is frequently underdiagnosed, and the information available in case reports is limited. To provide an overview of the clinical manifestations and diagnosis of this condition, this study aims to conduct a review of reported cases of ISCH. Methods: A literature review was carried out using seven databases. The search was conducted using the keywords "Idiopathic spinal cord herniation" OR "Idiopathic Ventral Spinal Cord Herniation" AND "Case report" OR "case series." Results: A total of 92 relevant papers reporting 224 cases, besides the index case, were determined. Of the cases, 58.5% were females and the mean age was 50.7 (SD 13.2) years. Symptoms, diagnoses, and outcomes were similar between genders. The most common clinical signs included motor symptoms (82.6%), instability (61.3%), hypoesthesia (59.2%), and disturbance of thermal sensitivity (47.3%). Brown-Séquard syndrome was observed in 27.2% of the cases, and surgical treatment was employed in 89.7% of the cases. Conclusions: ISCH is a pathology that is principally treated with surgical approach. This study provides valuable insights into the clinical manifestations and diagnosis of ISCH, which can aid in the early recognition and treatment of this rare condition.
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Macular holes (MHs), including atraumatic idiopathic and refractory MHs, affect central vision acuity due to full-thickness defects in the retinal tissue. The existing controversy regarding the pathophysiology and management of MHs has significantly improved with the implementation of internal limiting membrane (ILM) surgical techniques and improved MH closure rates. Thus, to determine the effect of ILM techniques on large idiopathic and refractory MH management, the present study systematically reviewed 5910 original research articles extracted from online literature databases, including PubMed, Cochrane, Google Scholar, and Embase, following the PRISMA guidelines. The primary outcome measures were MH closure rate and postoperative visual acuity. A total of 23 randomized controlled trials (RCTs) with adequate patient information and information on the effect of ILM peeling, inverted ILM flaps, autologous retinal transplantation (ART), and ILM insertion techniques on large idiopathic and refractory MH patients were retrieved and analyzed using RevMan software (version 5.3) provided by the Cochrane Collaboration. Statistical risk of bias analysis was also conducted on the selected sources using RoB2, which showed a low risk of bias in the included studies. A meta-analysis indicated that the inverted ILM flap technique had a significantly greater MH closure rate for primary MH than the other treatment methods (OR = 3. 22, 95% CI 1.34-7.43; p = 0.01). Furthermore, the findings showed that the inverted ILM flap group had significantly better postoperative visual acuity than did the other treatment options for patients with idiopathic MH (WMD = - 0.13; 95% CI = 0.22-0.09; p = 0.0002). The ILM peeling technique had the second highest statistical significance for MH closure rates in patients with idiopathic MH (OR = 2. 72, 95% CI: 1.26-6.32; p = 0.016). In refractory MHs, autologous retinal transplant (ART) and multilayer ILM plug (MIP) techniques improve the closure rate and visual function; human amniotic membrane grafting (hAMG) provides a high degree of anatomical outcomes but disappointing visual results. This study demonstrated the reliability and effectiveness of ILM techniques in improving the functional and anatomical outcomes of large idiopathic and refractory MH surgery. These findings will help clinicians choose the appropriate treatment technique for patients with idiopathic and refractory MH.
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BACKGROUND: Idiopathic hypereosinophilic syndrome (IHES) is a disorder characterized by abnormal and persistent peripheral blood hypereosinophilia (eosinophil count ≥ 1.5 × 109/L and ≥10% eosinophils) with duration ≥ 6 months, associated organ damage, and/or dysfunction attributable to tissue eosinophilic infiltrate of unknown cause. IHES affects different organs such as the heart, lungs, nervous system, and skin, with renal involvement being rare in this condition. CASE PRESENTATION: We present a case of a young patient with IHES and immune complex-mediated membranoproliferative glomerulonephritis with nephrotic syndrome, as a rare renal manifestation. We discuss the clinical, analytical, and histopathologic renal and hematologic features, comparing them with other reported cases in the literature.
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Autism Spectrum Disorder (ASD) encompasses a wide range of neurodevelopmental conditions characterized by deficits in social interaction, communication and behavior. Current pharmacological options are limited and feature significant side effects. In this study, we conducted a retrospective, observational, and cross-sectional cohort study to evaluate the effects of Cannabidiol (CBD)-dominant, full-spectrum cannabis extract, containing Tetrahydrocannabinol (THC) in a ratio of 33:1 (CBD:THC), on non-syndromic children and adolescents (5-18 years old) with moderate to severe ASD. Thirty volunteers were recruited, underwent neuropsychological evaluations and were treated with individualized doses of CBD-dominant extract. Clinical assessments were conducted by the designated clinician. Additionally, parents or caregivers were independently interviewed to assess perceived treatment effects. We found significant improvements in various symptomatic and non-symptomatic aspects of ASD, with minimal untoward effects, as reported by both clinical assessments and parental perceptions. The observed improvements included increased communicative skills, attention, learning, eye contact, diminished aggression and irritability, and an overall increase in both the patient's and family's quality of life. Despite its limitations, our findings suggest that treatment with full-spectrum CBD-dominant extract may be a safe and effective option for core and comorbid symptoms of ASD, and it may also increase overall quality of life for individuals with ASD and their families.
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Up to 30% of patients with celiac disease (CD) suffer from concurrent autoimmune disease, compared to 3% of the general population. The association between CD and the current clinical phenotypes of inflammatory myopathies (IIM) patients has not been thoroughly addressed. Assess the CD features among patients with IIM and their relationship with the clinical phenotype and the myositis specific (MSA) and associated antibodies (MAA). For this cross-sectional study, we recruited 99 adult patients classified as IIM from a tertiary center in Mexico. We assessed serum MSA, MAA, and CD-associated autoantibodies (IgA anti-tissue transglutaminase (tTG) and both IgA and IgG anti-deaminated gliadin peptide (DGP)). Patients with highly suggestive serology for CD were then tested for IgG anti-endomysium antibodies, and a duodenal biopsy was performed. 70.7% of patients were positive for at least one antibody. Nine duodenal biopsies were taken, revealing findings compatible with celiac disease in two cases. Subjects with anti-MDA5 antibodies were more likely to have positive anti-tTG IgA antibodies (OR 6.76, 95% CI 1.85-24.62, P = 0.013) and suggestive CD serology (OR 6.41, 95% CI 1.62-25.29, P = 0.009). Patients with anti-Mi2 antibodies were more likely to have positive anti-DGP IgG antibodies (OR 3.35, 95% CI 1.12-9.96, P = 0.039), while positivity for these autoantibodies was less frequent in patients with anti-NXP2 antibodies (OR 0.22, 95% CI 0.06-0.80, P = 0.035). There is a higher prevalence of serologic and definite CD in patients with IIM compared to the general population. Identifying this subgroup of patients may have prognostic and therapeutic implications. Key points ⢠The study estimated a serological celiac disease (CD) prevalence of 70.7% in patients with idiopathic inflammatory myopathies (IIM) and a biopsy-confirmed prevalence of 2%, suggesting that IIM patients should be considered a high-risk population for CD. ⢠We identified a significant association between serological CD and the presence of anti-MDA5 and anti-Mi2 antibodies, suggesting a potential justification for celiac disease screening in this specific subgroup of patients. ⢠The impact of gluten-free diets on IIM patients with serological markers of CD remains untested and warrants further investigation through prospective, randomized studies.
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Autoanticuerpos , Enfermedad Celíaca , Miositis , Humanos , Enfermedad Celíaca/epidemiología , Enfermedad Celíaca/inmunología , Enfermedad Celíaca/sangre , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/complicaciones , Estudios Transversales , Femenino , Masculino , Persona de Mediana Edad , Adulto , Prevalencia , Autoanticuerpos/sangre , Miositis/inmunología , Miositis/epidemiología , Miositis/sangre , México/epidemiología , Transglutaminasas/inmunología , Anciano , Inmunoglobulina A/sangre , Gliadina/inmunología , Inmunoglobulina G/sangre , Proteína Glutamina Gamma Glutamiltransferasa 2RESUMEN
Introduction: Polyarticular juvenile idiopathic arthritis (pJIA) is a childhood-onset autoimmune disease. Immune cells contribute to persistent inflammation observed in pJIA. Despite the crucial role of monocytes in arthritis, the precise involvement of classical monocytes in the pathogenesis of pJIA remains uncertain. Here, we aimed to uncover the transcriptomic patterns of classical monocytes in pJIA, focusing on their involvement in disease mechanism and heterogeneity. Methods: A total of 17 healthy subjects and 18 premenopausal women with pJIA according to ILAR criteria were included. Classical monocytes were isolated, and RNA sequencing was performed. Differential expression analysis was used to compare pJIA patients and healthy control group. Differentially expressed genes (DEGs) were identified, and gene set enrichment analysis (GSEA) was performed. Using unsupervised learning approach, patients were clustered in two groups based on their similarities at transcriptomic level. Subsequently, these clusters underwent a comparative analysis to reveal differences at the transcriptomic level. Results: We identified 440 DEGs in pJIA patients of which 360 were upregulated and 80 downregulated. GSEA highlighted TNF-α and IFN-γ response. Importantly, this analysis not only detected genes targeted by pJIA therapy but also identified new modulators of immuno-inflammation. PLAUR, IL1B, IL6, CDKN1A, PIM1, and ICAM1 were pointed as drivers of chronic hyperinflammation. Unsupervised learning approach revealed two clusters within pJIA, each exhibiting varying inflammation levels. Conclusion: These findings indicate the pivotal role of immuno-inflammation driven by classical monocytes in pJIA and reveals the existence of two subclusters within pJIA, regardless the positivity of rheumatoid factor and anti-CCP, paving the way to precision medicine.
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Artritis Juvenil , Perfilación de la Expresión Génica , Inflamación , Monocitos , Transcriptoma , Adulto , Niño , Femenino , Humanos , Anticuerpos Antiproteína Citrulinada , Artritis Juvenil/clasificación , Artritis Juvenil/genética , Artritis Juvenil/inmunología , Artritis Juvenil/patología , Estudios de Casos y Controles , Enfermedad Crónica , Análisis por Conglomerados , Inflamación/genética , Inflamación/inmunología , Inflamación/patología , Mediadores de Inflamación/inmunología , Interferón gamma/inmunología , Monocitos/inmunología , Monocitos/metabolismo , Fenotipo , Medicina de Precisión , Premenopausia , Unión Proteica , Mapas de Interacción de Proteínas , Factor Reumatoide , Análisis de Secuencia de ARN , Transcriptoma/genética , Factor de Necrosis Tumoral alfa/inmunología , Aprendizaje Automático no SupervisadoRESUMEN
Abstract Objective: To assess the prevalence of chronic neutropenia (CN) and the clinical profile of patients with CN aged up to 18 years, followed in the pediatric hematology, rheumatology, or immunology outpatient clinic of a tertiary medical center from May 1, 2018, to 30 April 2019. Methods: Retrospective observational study carried out by collecting data from the patient's medical charts. CN was defined as absolute neutrophil count (ANC) below 1.5 × 109/L lasting over three months. Autoimmune neutropenia (AIN) was defined by clinical criteria and an over twofold increase in ANC after glucocorticoid stimulation. AIN was considered secondary when associated with autoimmune or immunoregulatory disorders. Wilcoxon and Fisher's exact tests were used to compare variables; the significance level was 5 %. Results: A total of 1,039 patients were evaluated; 217 (20 %) presented CN. Twenty-one (2 %) had AIN, classified as primary in 57 % of the cases. The average age at the onset of symptoms was 38.6 months. During follow-up, patients had 4.2 infections on average; frequency was higher among patients with secondary AIN (p = 003). Isolated neutropenia occurred in 43 % of the patients with AIN. Neutropenia resolved in eight (38 %) of the 21 patients with AIN within 19.6 months on average. Eight patients with secondary AIN met the criteria for Inborn Errors of Immunity. Conclusion: AIN prevalence was 2 %. Most cases were first evaluated by a pediatric immunologist or rheumatologist rather than a pediatric hematologist. This study highlights the need for a multidisciplinary approach involving a pediatric immunologist, rheumatologist, and hematologist.
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La tuberculosis es una infección bacteriana causada por Mycobacterium tuberculosis que afecta a millones de personas en todo el mundo. Aunque principalmente se manifiesta en los pulmones, también puede afectar otras partes del cuerpo, como la regiónes de la cabeza y el cuello. Aunque es poco común, se han reportado casos de tuberculosis en glándulas parótidas, tonsilas palatinas y seno piriforme. La forma más común de tuberculosis extrapulmonar en esta región es la linfadenopatía superficial, que afecta principalmente los nódulos linfáticos del territorio cervical anterior. Los linfonodos afectados por tuberculosis presentan características específicas en la ecografía, lo que puede ayudar en el diagnóstico. El diagnóstico de tuberculosis extrapulmonar se realiza mediante pruebas como la citología por aspiración con aguja fina (PAAF) o la reacción en cadena de la polimerasa (PCR). Estas pruebas permiten detectar la presencia de Mycobacterium tuberculosis en los tejidos afectados. El tratamiento de la tuberculosis implica el uso de antibióticos antituberculosos durante un periodo prolongado. Es importante seguir el tratamiento completo para asegurar la erradicación de las bacterias y prevenir la recurrencia de la enfermedad. En este artículo, se presenta una revisión sistemática de la literatura de tuberculosis extrapulmonar en la región de la cabeza y cuello y un caso de un paciente sexo masculino de 81 años de edad, que se presentó con un aumento de volumen submandibular izquierdo de 3 semanas de evolución, con hipótesis diagnóstica de submaxilitis idiopática. Presentaba múltiples adenopatías supraclaviculares, mediastínicas e hiliares, y en conjunto a scanner, biopsias, cultivos y test dio resultados positivos para tuberculosis que se manifestó de forma extrapulmonar.
Tuberculosis is a bacterial infection caused by Mycobacterium tuberculosis that affects millions of people around the world. Although it manifests primarily in the lungs, it can also affect other parts of the body, such as the head and neck regions. Although rare, cases of tuberculosis in the parotid glands, palatine tonsils, and piriform sinus have been reported. The most common form of extrapulmonary tuberculosis in this region is superficial lymphadenopathy, which mainly affects the nodules of the anterior cervical area. Lymph nodes affected by tuberculosis present specific characteristics on ultrasound, which can help in diagnosis. The diagnosis of extrapulmonary tuberculosis is made through tests such as fine needle aspiration cytology (FNAC) or polymerase chain reaction (PCR), which allow the presence of Mycobacterium tuberculosis in the affected tissues to be detected. Treatment of tuberculosis involves the use of anti-tuberculosis antibiotics for long periods of time. It is important to follow the complete treatment to ensure the eradication of bacteria and prevent recurrence of the disease. In this article, we present a systematic review of the literature on extrapulmonary tuberculosis in the head and neck region and case of an 81-year-old male patient, who presented with a 3-week increase in left submandibular volume with a diagnostic hypothesis of idiopathic submaxilitis. The patient had multiple supraclavicular, mediastinal and hilar lymphadenopathy; following scan, biopsies, and cultures, the patient tested positive for tuberculosis that manifested extrapulmonarily.
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BACKGROUND: Juvenile idiopathic arthritis (JIA) comprises a whole spectrum of chronic arthritis starting before 16 years of age. The study aims to explore the clinical and demographic descriptors, treatment, and disease progression of enthesitis-related arthritis (ERA) in comparison with juvenile-onset spondyloarthritis (SpA). METHODS: Cross-sectional analysis of consecutive patients in two dedicated clinics, with a single visit and retrospective case-notes review. Arthritis, enthesitis and sacroiliitis were evaluated by scoring disease activity and damage. Continuous variables were reported by median, interquartile range; categorical variables were reported by the frequency comparison of the two groups. RESULTS: Thirty-three cases were included, being 23 (69.7%) with ERA. The median age at diagnosis was 12.5 y (SpA) vs. 9 y (ERA) (p < 0.01); the time from symptom onset to diagnosis was 5.5 y (SpA) vs. 1.5 y (ERA) (p < 0.03). In both groups, the predominant presentation was a single joint or < 5 lower limb joints and asymmetric involvement, with a high frequency of enthesitis. There was a higher frequency of mid-tarsal and ankle synovitis in the ERA group and hip involvement in those with SpA. The comparison of the frequency of spine symptoms at presentation, 30% SpA vs. 21.7% ERA (p = 0.7), was not significant, and radiographic progression to spinal involvement occurred in 43.5% of ERA patients. The median time for spinal progression and age at onset was 2.2 and 12 y for ERA, and 4 and 16.5 y for SpA, respectively. Activity and damage scores were not significantly different between the groups. Treatment comparison resulted in 91.3% of ERA and 100% SpA being treated, predominantly with NSAIDs in both groups, followed by DMARDs and biologics, with a higher frequency of biologics in SpA. CONCLUSION: The main differences were the late diagnoses of SpA, and the hip and spine involvement, with higher frequency of biologic treatment in juvenile-onset SpA compared to ERA.
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Antirreumáticos , Artritis Juvenil , Progresión de la Enfermedad , Espondiloartritis , Humanos , Estudios Transversales , Artritis Juvenil/complicaciones , Artritis Juvenil/tratamiento farmacológico , Artritis Juvenil/diagnóstico , Niño , Adolescente , Femenino , Masculino , Estudios Retrospectivos , Espondiloartritis/complicaciones , Espondiloartritis/tratamiento farmacológico , Espondiloartritis/diagnóstico , Antirreumáticos/uso terapéutico , Entesopatía/etiología , Entesopatía/diagnóstico por imagen , Sacroileítis/diagnóstico por imagen , Edad de Inicio , AdultoRESUMEN
La enfermedad vascular porto-sinusoidal es una causa infrecuente de hipertensión portal no cirrótica, fue descrita recientemente y es poco diagnosticada por el desconocimiento entre los médicos. Se considera en casos de hipertensión portal clínicamente significativa, en ausencia de cirrosis. El diagnóstico se basa en los hallazgos de la biopsia. El pronóstico de la enfermedad es mejor que el de los pacientes cirróticos, y el tratamiento es similar al de la hipertensión portal y al de las complicaciones que presentan los pacientes con cirrosis. Se presenta el caso de una paciente con várices esofágicas con estudios de imágenes no compatibles con cirrosis y hallazgos específicos en la biopsia de enfermedad vascular porto-sinusoidal. Este caso muestra el ejercicio diagnóstico en un caso de enfermedad vascular porto-sinusoidal de una paciente de Colombia, así como el resultado de las intervenciones terapéuticas y la evolución en el tiempo.
Porto-sinusoidal vascular disease is an uncommon cause of non-cirrhotic portal hypertension. It was recently described and is rarely diagnosed due to lack of knowledge among doctors. It is considered in cases of clinically significant portal hypertension in the absence of cirrhosis, and the diagnosis is based on biopsy findings. The prognosis of the disease is better than that of cirrhotic patients, and the treatment is similar to that of portal hypertension, including the management of complications associated with cirrhosis. We present the case of a patient with esophageal varices, whose imaging studies were not compatible with cirrhosis, alongside specific biopsy findings of porto-sinusoidal vascular disease. This case illustrates the diagnostic process in a patient from Colombia with portosinusoidal vascular disease, as well as the outcomes of therapeutic interventions and the patient´s evolution over time.
RESUMEN
METHODS: We took Peripheral blood samples from adult patients over 60 years of age with a confirmed diagnosis of IPF through biopsy or clinical criteria. Plasma separation was performed, and proinflammatory cytokines were measured using CBA. This study received approval from the ethics and research committee of the Colombian Pulmonological Foundation. RESULTS: Patients with IPF exhibited an increase in cytokines such as IL-4, INFy, and IL-6 compared to healthy older adults. CONCLUSION: Inflammatory disease has been associated with the development and coexistence of multiple chronic non-communicable diseases that have a higher incidence after 65 years of age. The involvement of adaptive immunity in the pathogenesis of IPF has been described as an imbalance in the Th1/Th2 lymphocyte response. Further studies are required to identify additional markers of immunosenescence that correlate with IPF.
OBJETIVO: Identificar citoquinas proinflamatorias en el plasma de pacientes con FPI residentes en la altura de Bogotá. MÉTODOS: Se tomaron muestras de sangre periférica de pacientes adultos mayores de 60 años, con diagnóstico de FPI confirmado por biopsia o por criterios clínicos. Se realizó la separación de plasma y se midieron citoquinas proinflamatorias por CBA. Este trabajo fue aprobado por el Comité de Ética e Investigaciones de la Fundación Neumológica Colombiana. RESULTADOS: Los pacientes con FPI mostraron un aumento de citocinas como la IL-4, INFy e IL-6, en comparación con adultos mayores sanos. CONCLUSIÓN: El inflammaging ha sido asociado con el desarrollo y coexistencia de múltiples enfermedades crónicas no transmisibles que tienen mayor incidencia después de los 65 años. Se ha descrito la participación de la inmunidad adaptativa con la patogénesis de la FPI, como un desbalance en la respuesta de linfocitos Th1/Th2. Es necesario realizar más estudios que permitan identificar otros marcadores de inmunosenescencia que se correlacionen con la FPI.