RESUMEN
Pain in the musculoskeletal system and therefore joint pain is one of the most common reasons for consulting a general practitioner (GP). Inflammatory rheumatic diseases are among the important differential diagnoses. However, the prevalence of rheumatological diseases is significantly lower than that of degenerative causes of pain. Incorrect referrals can be avoided if the causes of pain are better differentiated in GP practices. This article presents the first differential diagnostic steps that make it easier for the GP to make further treatment decisions. Physical examination, laboratory diagnostics and imaging are discussed, and the concept of "clinically suspect arthralgia" as well as the possible effects of treatment trials with glucocorticoids are presented.
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Artralgia , Enfermedades Reumáticas , Humanos , Diagnóstico Diferencial , Artralgia/etiología , Enfermedades Reumáticas/complicaciones , Glucocorticoides/uso terapéutico , Glucocorticoides/efectos adversos , Examen Físico , Estudios TransversalesAsunto(s)
Síndrome de Hiperostosis Adquirido , Neuritis Óptica , Humanos , Neuritis Óptica/diagnóstico , Neuritis Óptica/tratamiento farmacológico , Neuritis Óptica/etiología , Resultado del Tratamiento , Síndrome de Hiperostosis Adquirido/diagnóstico , Síndrome de Hiperostosis Adquirido/complicaciones , Síndrome de Hiperostosis Adquirido/tratamiento farmacológico , Femenino , Adulto , Glucocorticoides/uso terapéuticoRESUMEN
OBJECTIVE: This paper aims to provide an overview of the use of treatments available for axial spondyloarthritis (axSpA) and psoriatic arthritis (PsA) during pregnancy and breastfeeding, according to current national recommendations and international guidelines, as well as data on the impact on pregnancy outcomes of paternal exposure to treatment. METHODS: We performed a narrative review of national and international recommendations and guidelines on the reproductive health of patients suffering from rheumatic diseases. The last updated recommendations and guidelines were considered source data. RESULTS: We reported updated information regarding the treatment of axSpA and PsA with nonsteroidal anti-inflammatory drugs, intra-articular glucocorticoids, conventional synthetic disease-modifying antirheumatic drugs (DMARDs), biologic DMARDs, and targeted synthetic DMARDs during the preconception period, pregnancy, and breastfeeding, as well as data related to paternal exposure. We highlighted any medications that should be discontinued and/or not used in the reproductive age group and also treatments that may be continued, avoiding the withdrawal of drugs that can be used in the different phases, thus preventing the risk of increasing disease activity and flares before, during, and after pregnancy in SpA patients. CONCLUSIONS: The best management of pregnancy in patients with SpA is based on knowledge of updated drug recommendations, a careful and wise evaluation of the risks/benefits of starting or continuing treatment from the SpA diagnosis in a woman of childbearing age through pregnancy and lactation, and sharing therapeutic choices with other healthcare providers (in particular, gynecologists/obstetricians) and the patient.
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Antirreumáticos , Lactancia Materna , Guías de Práctica Clínica como Asunto , Complicaciones del Embarazo , Espondiloartritis , Humanos , Embarazo , Femenino , Antirreumáticos/uso terapéutico , Complicaciones del Embarazo/tratamiento farmacológico , Espondiloartritis/tratamiento farmacológico , Artritis Psoriásica/tratamiento farmacológico , Reumatología/normas , Sociedades Médicas , Resultado del Embarazo , Glucocorticoides/uso terapéutico , Antiinflamatorios no Esteroideos/uso terapéuticoRESUMEN
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder with progressive proximal weakness as the principal sign. Glucocorticoids and physical therapy are the mainstay of treatment. Exercise intolerance is the hallmark of metabolic myopathies, which require a combination of laboratory testing, electrodiagnostic testing, and muscle biopsy for diagnosis. Joint hypermobility may be an isolated finding or be associated with hypermobility Ehlers-Danlos syndrome (EDS), other variants of EDS, or marfanoid syndromes. The latter conditions are associated with aortic and cardiac valvular abnormalities. Osteogenesis imperfecta encompasses a group of disorders characterized by bone fragility presenting with a low-impact fracture as a result of minimal trauma. Management includes multidiscipline specialists. Down syndrome (DS), or trisomy 21, is the most common chromosome abnormality identified in live births. Routine evaluation of atlantoaxial instability with x-ray is no longer recommended for children with DS without symptoms of atlantoaxial instability; however, clinical evaluation of symptoms is required for sports preparticipation. Achondroplasia is the most common skeletal dysplasia. Clinical signs are macrocephaly, short limb, short stature with disproportionately shorter humerus and femur, along with characteristic findings in pelvis and lumbar spine x-rays. Caregivers should be educated on proper positioning and handling to avoid complications, including car seat-related deaths.
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Acondroplasia , Síndrome de Ehlers-Danlos , Osteogénesis Imperfecta , Humanos , Niño , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Adolescente , Acondroplasia/diagnóstico , Acondroplasia/genética , Acondroplasia/terapia , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/terapia , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/terapia , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Síndrome de Down/complicaciones , Síndrome de Down/diagnóstico , Enfermedades Musculoesqueléticas/diagnóstico , Enfermedades Musculoesqueléticas/terapia , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/terapia , Síndrome de Marfan/complicaciones , Síndrome de Marfan/genética , Glucocorticoides/uso terapéutico , Modalidades de FisioterapiaRESUMEN
Juvenile dermatomyositis (JDM) is the leading cause of chronic idiopathic inflammatory myopathy of auto-immune origin in children.1 Seven patients with JDM found in the records from 1998-2019 of the Department of Dermatology Farhat Hached Hospital, Sousse, Tunisia. Our study concerned a total of six girls and one boy with a median age at disease onset of 8,16 years.2 The average time before diagnosis was 8,8 months. The onset of the disease was acute in 2 patients. All patients displayed skin manifestations at diagnosis, with proximal muscular weakness in 4 cases. Four patients had elevated muscle enzymes and all of them showed myopathic findings on electromyography. Oral corticosteroids were prescribed in 6 patients, in association with other systemic therapies. Three patients achieved a good outcome while two others relapsed. The two other patients showed corticosteroids resistance with a fatal outcome in one case. This study highlights the diagnostic features and management of juvenile dermatomyositis.
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Dermatomiositis , Humanos , Dermatomiositis/diagnóstico , Dermatomiositis/tratamiento farmacológico , Masculino , Femenino , Niño , Adolescente , Preescolar , Corticoesteroides/uso terapéutico , Estudios Retrospectivos , Electromiografía , Túnez , Glucocorticoides/uso terapéutico , Glucocorticoides/administración & dosificaciónRESUMEN
Dermatomyositis (DM) is a complex and rare autoimmune disease characterized by muscle weakness and distinctive skin rashes. Its pathogenesis involves a combination of genetic susceptibility, environmental triggers, and immunological factors, with interferon pathways and specific gene upregulations playing crucial roles. Diagnosis is based on clinical presentation, laboratory findings, and imaging, with particular emphasis on myositis-specific antibodies and characteristic muscle and skin changes. The clinical heterogeneity of DM, including variants such as clinically amyopathic DM and DM-associated interstitial lung disease, necessitates a personalized diagnostic and therapeutic approach. Current pharmacological treatments for DM include glucocorticoids, which remain the first-line therapy despite their long-term adverse effects. Immunosuppressants, such as azathioprine, methotrexate, and mycophenolate mofetil, are commonly used in combination with glucocorticoids to enhance efficacy and reduce steroid dependence. Biologics, such as rituximab and intravenous immunoglobulin, have shown effectiveness in refractory cases. Emerging therapies, particularly Janus kinase inhibitors, offer promise for treatment-resistant DM, although they present significant safety concerns, including increased risks of infections and cardiovascular events. Despite significant advancements, managing DM remains challenging due to its rarity and variability. Future research should prioritize the development of precision medicine approaches tailored to individual genetic and pathological features. Additionally, integrated treatment strategies combining pharmacological and non-pharmacological interventions are crucial to improving patient outcomes and quality of life. Understanding the etiology and pathogenesis of DM more deeply will be vital for developing more effective and targeted treatments, ultimately leading to better disease management and prognosis.
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Dermatomiositis , Inmunosupresores , Humanos , Dermatomiositis/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Glucocorticoides/uso terapéuticoRESUMEN
INTRODUCTION: Adrenoleukodystrophy (ALD) patients exhibit three primary clinical phenotypes: primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral demyelination due to the accumulation of saturated very long-chain fatty acids in the adrenal cortex and central nervous system white matter and axons. We investigated the diagnosis of adrenal insufficiency (AI) and the use of mineralocorticoid treatment in male ALD patients. METHODS: A retrospective chart review of electronic medical records was conducted for all ALD patients at a single institution between January 1, 2011, and December 6, 2021. RESULTS: Among the 437 ALD patients, 82% were male and 18% were female. Of the male ALD patients, 60% (213 out of 358) had a diagnosis of AI, and 39% (84 out of 213) of those with AI were prescribed mineralocorticoid replacement therapy. CONCLUSION: AI is highly prevalent among ALD patients, with approximately 40% of those with a diagnosis of AI undergoing mineralocorticoid replacement therapy. Further research is warranted to delineate the characteristics of patients predisposed to developing mineralocorticoid deficiency within the context of ALD and AI.
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Insuficiencia Suprarrenal , Adrenoleucodistrofia , Mineralocorticoides , Insuficiencia Suprarrenal/tratamiento farmacológico , Mineralocorticoides/uso terapéutico , Estudios Retrospectivos , Humanos , Masculino , Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/tratamiento farmacológico , Lactante , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Fludrocortisona/uso terapéutico , Glucocorticoides/uso terapéutico , AntiinflamatoriosRESUMEN
Atopic dermatitis (AD) is a chronic inflammatory skin disorder that requires a complex management strategy, which often involves multiple and diverse topicals and systemic treatment regimens. While topical steroids and more recently calcineurin inhibitors have been the mainstay therapy for mild-to-moderate disease, recent advances in the understanding of AD pathogenesis have led to the development of different new targets, rapidly widening our therapeutic armamentarium. This review summarizes their efficacy and safety data. We also review topical optimization strategies, including the recently published topical volume calculator, to maximize long-term disease control, especially when using multiple agents at the same time.
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Administración Cutánea , Inhibidores de la Calcineurina , Dermatitis Atópica , Fármacos Dermatológicos , Dermatitis Atópica/tratamiento farmacológico , Humanos , Inhibidores de la Calcineurina/uso terapéutico , Inhibidores de la Calcineurina/administración & dosificación , Fármacos Dermatológicos/uso terapéutico , Fármacos Dermatológicos/administración & dosificación , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Administración Tópica , Quimioterapia Combinada , Compuestos de Boro/uso terapéutico , Compuestos de Boro/administración & dosificación , Compuestos Bicíclicos Heterocíclicos con PuentesRESUMEN
BACKGROUND: Hypocholesterolemia hallmarks critical illness though the underlying pathophysiology is incompletely understood. As low circulating cholesterol levels could partly be due to an increased conversion to cortisol/corticosterone, we hypothesized that glucocorticoid treatment, via reduced de novo adrenal cortisol/corticosterone synthesis, might improve cholesterol availability and as such affect adrenal gland and skeletal muscle function. METHODS: In a matched set of prolonged critically ill patients (n = 324) included in the EPaNIC RCT, a secondary analysis was performed to assess the association between glucocorticoid treatment and plasma cholesterol from ICU admission to day five. Next, in a mouse model of cecal ligation and puncture-induced sepsis, septic mice were randomized to receive either hydrocortisone (1.2 mg/day) (n = 17) or placebo (n = 15) for 5 days, as compared with healthy mice (n = 18). Plasma corticosterone, cholesterol, and adrenocortical and myofiber cholesterol were quantified. Adrenal structure and steroidogenic capacity were evaluated. Muscle force and markers of atrophy, fibrosis and regeneration were quantified. In a consecutive mouse study with identical design (n = 24), whole body composition was assessed by EchoMRI to investigate impact on lean mass, fat mass, total and free water. RESULTS: In human patients, glucocorticoid treatment was associated with higher plasma HDL- and LDL-cholesterol from respectively ICU day two and day three, up to day five (P < 0.05). Plasma corticosterone was no longer elevated in hydrocortisone-treated septic mice compared to placebo, whereas the sepsis-induced reduction in plasma HDL- and LDL-cholesterol and in adrenocortical cholesterol was attenuated (P < 0.05), but without improving the adrenocortical ACTH-induced CORT response and with increased adrenocortical inflammation and apoptosis (P < 0.05). Total body mass was further decreased in hydrocortisone-treated septic mice (P < 0.01) compared to placebo, with no additional effect on muscle mass, force or myofiber size. The sepsis-induced rise in markers of muscle atrophy and fibrosis was unaffected by hydrocortisone treatment, whereas markers of muscle regeneration were suppressed compared to placebo (P < 0.05). An increased loss of lean body mass and total and free water was observed in hydrocortisone-treated septic mice compared to placebo (P < 0.05). CONCLUSIONS: Glucocorticoid treatment partially attenuated critical illness-induced hypocholesterolemia, but at a cost of impaired adrenal function, suppressed muscle regeneration and exacerbated loss of body mass.
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Glándulas Suprarrenales , Colesterol , Enfermedad Crítica , Glucocorticoides , Músculo Esquelético , Animales , Enfermedad Crítica/terapia , Humanos , Ratones , Glucocorticoides/uso terapéutico , Glucocorticoides/farmacología , Colesterol/sangre , Colesterol/análisis , Masculino , Glándulas Suprarrenales/efectos de los fármacos , Glándulas Suprarrenales/fisiopatología , Persona de Mediana Edad , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/fisiopatología , Femenino , Anciano , Hidrocortisona/análisis , Hidrocortisona/uso terapéutico , Hidrocortisona/sangre , Sepsis/tratamiento farmacológico , Sepsis/fisiopatología , Sepsis/complicaciones , Modelos Animales de EnfermedadRESUMEN
OBJECTIVE: To assess relationships between the timing of glucocorticoid (GC) initiation, entrance into rheumatology care, and the duration of GC use in older adults with early rheumatoid arthritis (eRA) in the U.S. METHODS: Data from the Rheumatology Informatics System for Effectiveness (RISE) registry and Medicare (2016-2018) were linked. Patients with ≥2 RA ICD codes in RISE were included; the first being the index date which signaled entrance into rheumatology care. GC initiation (between 3 months before to 6 months after the index date) and continuous GC use up to 12 months after the index date were captured using Medicare claims. Cox proportional hazards models with adjustment for confounders assessed differences in the duration of GC use for patients initiating GCs before versus after the index date. Average daily GC doses were estimated. RESULTS: 1,733 patients (67 % female; mean age 76 ± 6 years) were included. 41 % initiated GCs, on average 16 ± 58 days before entering rheumatologic care. The mean duration of GC use was 157 days (95 %-CI 143 to 170). GC initiation before rheumatologic care was associated with longer GC use, even after adjustment for confounders (hazard ratio 0.61; 95 %-CI [0.51 to 0.74]). For patients using GCs for ≥3 months, average daily GC doses were <5 mg/d prednisone equivalent. CONCLUSION: GCs are regularly used in eRA and most often initiated before patients enter rheumatology care. Long-term, low-dose GC use is common and associated with initiation before rheumatology care. Earlier referral to rheumatology might reduce GC exposure among U.S. patients with eRA.
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Artritis Reumatoide , Glucocorticoides , Medicare , Humanos , Artritis Reumatoide/tratamiento farmacológico , Masculino , Femenino , Glucocorticoides/uso terapéutico , Glucocorticoides/administración & dosificación , Anciano , Estados Unidos , Anciano de 80 o más Años , Sistema de Registros , ReumatologíaRESUMEN
INTRODUCTION: Intratympanic corticosteroids are commonly used in the treatment of Menière's disease (MD). However, few and small randomised controlled trials (RCT) on the effectiveness of intratympanic corticosteroids have been performed. A recent Cochrane review suggested that a well-conducted placebo-controlled RCT with a large study population is required to evaluate the effectiveness of the use of intratympanic corticosteroids in MD. The following protocol describes a phase-3 multicentre, double-blinded, randomised, placebo-controlled trial to compare the effectiveness of methylprednisolone (62.5 mg/mL) to a placebo (sodium chloride 0.9%). METHODS AND ANALYSIS: We aim to recruit 148 patients with unilateral MD from six hospitals in the Netherlands. Patients will be randomly assigned to either the methylprednisolone or the placebo group. Two injections will be given, one at baseline and one after 2 weeks. Follow-up assessments will be done at 3, 6, 9 and 12 months. The primary outcome will be the frequency of vertigo attacks. Attacks will be evaluated daily with the DizzyQuest app. Secondary outcomes include hearing loss, tinnitus, health-related quality of life, use of co-interventions and escape medication, (serious) adverse events and cost-effectiveness. These will be evaluated with audiometry and multiple commonly used, validated questionnaires. For the primary and secondary outcomes mixed model analysis, generalised estimating equation analysis and logistic regression analysis will be used. ETHICS AND DISSEMINATION: This study was submitted via the Clinical Trials Information System, reviewed and approved by the Medical Research Ethics Committee Leiden The Hague Delft and the local institutional review board of each participating centre. All data will be presented ensuring the integrity and anonymity of patients. Results will be published in scientific journals and presented on (inter)national conferences. TRIAL REGISTRATION NUMBER: This study is registered at ClinicalTrials.gov Protocol Registration and Results System, with the registration ID: NCT05851508.
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Inyección Intratimpánica , Enfermedad de Meniere , Metilprednisolona , Vértigo , Humanos , Ensayos Clínicos Fase III como Asunto , Método Doble Ciego , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Enfermedad de Meniere/tratamiento farmacológico , Metilprednisolona/administración & dosificación , Metilprednisolona/uso terapéutico , Estudios Multicéntricos como Asunto , Países Bajos , Calidad de Vida , Ensayos Clínicos Controlados Aleatorios como Asunto , Resultado del Tratamiento , Vértigo/tratamiento farmacológicoRESUMEN
BACKGROUND: In nephrotic syndrome, protein leaks from the blood into the urine through the glomeruli, resulting in hypoproteinaemia and generalised oedema. While most children with nephrotic syndrome respond to corticosteroids, 80% experience a relapsing course. Corticosteroids have reduced the death rate to around 3%; however, corticosteroids have well-recognised potentially serious adverse events such as obesity, poor growth, hypertension, diabetes mellitus, osteoporosis, cataracts, glaucoma and behavioural disturbances. This is an update of a review first published in 2000 and updated in 2002, 2005, 2007, 2015 and 2020. OBJECTIVES: The aim of this review was to assess the benefits and harms of different corticosteroid regimens in children with steroid-sensitive nephrotic syndrome (SSNS). The benefits and harms of therapy were studied in two groups of children: 1) children in their initial episode of SSNS and 2) children who experience a relapsing course of SSNS. SEARCH METHODS: We contacted the Information Specialist and searched the Cochrane Kidney and Transplant Register of Studies up to 9 July 2024 using search terms relevant to this review. Studies in the Register are identified through searches of CENTRAL, MEDLINE, and EMBASE, conference proceedings, the International Clinical Trials Registry Platform (ICTRP) Search Portal, and ClinicalTrials.gov. SELECTION CRITERIA: Randomised controlled trials (RCTs) performed in children (one to 18 years) during their initial or subsequent episode of SSNS, comparing different durations, total doses or other dose strategies using any corticosteroid agent. DATA COLLECTION AND ANALYSIS: Summary estimates of effects were obtained using a random-effects model, and results were expressed as risk ratios (RR) and their 95% confidence intervals (CI) for dichotomous outcomes and mean difference (MD) and 95% CI for continuous outcomes. Confidence in the evidence was assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. MAIN RESULTS: In this 2024 update, we included five new studies, resulting in 54 studies randomising 4670 children. Risk of bias methodology was often poorly performed, with only 31 studies and 28 studies respectively assessed to be at low risk for random sequence generation and allocation concealment. Ten studies were at low risk of performance bias (blinding of participants and personnel), and 12 studies were at low risk of detection bias (blinding of outcome assessment); nine of these studies were placebo-controlled RCTs. Twenty-seven studies (fewer than 50%) were at low risk for attrition bias, and 26 studies were at low risk for reporting bias (selective outcome reporting). In studies at low risk of selection bias evaluating children in their initial episode of SSNS, there is little or no difference in the number of children with frequent relapses when comparing two months of prednisone with three months or more (RR 0.96, 95% CI 0.83 to 1.10; 755 children, 5 studies; I2 = 0%; high certainty evidence) or when comparing three months with five to seven months of therapy (RR 0.99, 95% CI 0.74 to 1.33; 376 children, 3 studies; I2 = 35%; high certainty evidence). In analyses of studies at low risk of selection bias, there is little or no difference in the number of children with any relapse by 12 to 24 months when comparing two months of prednisone with three months or more (RR 0.93, 95% CI 0.81 to 1.06; 808 children; 6 studies; I2 = 47%) or when comparing three months with five to seven months of therapy (RR 0.88, 95% CI 0.70 to 1.11; 377 children, 3 studies; I2 = 53%). Little or no difference was noted in adverse events between the different treatment durations. Amongst children with relapsing SSNS, four small studies (177 children) utilising lower doses of prednisone compared with standard regimens found little or no differences between groups in the numbers with relapse (RR 1.01, 95% CI 0.85 to 1.20; I2 = 0%). A fifth study (117 children) reported little or no difference between two weeks and four weeks of alternate-day prednisone after remission with daily prednisone. A recent large, well-designed study with 271 children found that administering daily prednisone compared with alternate-day prednisone or no prednisone during viral infection did not reduce the risk of relapse. In contrast, four previous small studies in children with frequently relapsing disease had reported that daily prednisone during viral infections compared with alternate-day prednisone or no treatment reduced the risk of relapse. AUTHORS' CONCLUSIONS: There are four well-designed studies randomising 823 children, which have demonstrated that there is no benefit of prolonging prednisone therapy beyond two to three months in the first episode of SSNS. Small studies in children with relapsing disease have identified no differences in efficacy using lower induction doses or shorter durations of prednisone therapy. Large, well-designed studies are required to confirm these findings. While previous small studies had suggested that changing from alternate-day to daily prednisone therapy at the onset of infection reduced the likelihood of relapse, a much larger and well-designed study found no reduction in the number relapsing when administering daily prednisone at the onset of infection.
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Síndrome Nefrótico , Ensayos Clínicos Controlados Aleatorios como Asunto , Recurrencia , Síndrome Nefrótico/tratamiento farmacológico , Humanos , Niño , Preescolar , Adolescente , Lactante , Corticoesteroides/uso terapéutico , Corticoesteroides/efectos adversos , Sesgo , Glucocorticoides/uso terapéutico , Glucocorticoides/efectos adversos , Dexametasona/uso terapéuticoAsunto(s)
Linfocitos B , Humanos , Niño , Linfocitos B/inmunología , Inmunosupresores/uso terapéutico , Glomérulos Renales , Rituximab/uso terapéutico , Glomerulonefritis/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Anticuerpos Monoclonales/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Productos Biológicos/uso terapéuticoRESUMEN
Objective: To analyze the clinical characteristics, treatment, and outcomes of children with complete left bundle branch block (CLBBB) mediated by maternal autoantibodies. Methods: A retrospective analysis was conducted on nine children diagnosed with maternal autoantibody-mediated CLBBB, treated at Beijing Anzhen Hospital and Fujian Provincial Hospital from March 2015 to August 2023. Their clinical characteristics, electrocardiographic and echocardiographic findings before and after treatment were reviewed. Paired sample t-test was used for inter-group comparison. Results: Among the mothers, 6 had positive antinuclear antibodies (ANA), 5 had anti-Sjogren syndrome antigen A antibodies, and 3 had anti-Ro-52 antibodies. The cohort included one female and eight male children, diagnosed with CLBBB at the age of 1 (2, 13) months. The positive autoantibodies in the infants, consisted with maternal antibodies, were detected within the first 3 months of life among 3 cases. Treatments included anti-heart failure therapy, myocardial nutritional support, intravenous immunoglobulin (IVIG) and glucocorticoids. Before treatment, the levels of troponin I (0.175 (0.060, 10.270) µg/L) and N-terminal pro-B-type natriuretic peptide (420 (327, 12 865) ng/L) were elevated, which normalized in most cases after treatment. Post-treatment, the QRS duration significantly shortened compared to pre-treatment ((137±15) vs.(169±25) ms, t=3.76, P<0.001), and the QTc interval significantly decreased ((433±41) vs. (514±27) ms, t=4.95, P=0.001). Before treatment, varying degrees of mitral and tricuspid regurgitation and marked interventricular septal dyskinesia were observed in echocardiography. After treatment, valve regurgitation and ventricular septum motion significantly improved, with a marked increase in left ventricular ejection fraction ((51±13)% vs. (27±6)%, t=-6.66, P<0.001). Conclusions: Maternal autoantibody-mediated CLBBB in children presents with chronic heart failure in infancy. Early treatment with anti-heart failure medications, IVIG and glucocorticoids can improve clinical symptoms.
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Anticuerpos Antinucleares , Autoanticuerpos , Bloqueo de Rama , Electrocardiografía , Humanos , Femenino , Estudios Retrospectivos , Masculino , Autoanticuerpos/sangre , Anticuerpos Antinucleares/sangre , Lactante , Ecocardiografía , Inmunoglobulinas Intravenosas/uso terapéutico , Péptido Natriurético Encefálico/sangre , Troponina I/sangre , Glucocorticoides/uso terapéutico , Fragmentos de Péptidos/inmunología , MadresRESUMEN
Introduction: The lungs are most commonly involved in tuberculosis, but infection can also involve other organs through lymphohematogenous dissemination. The clinical presentation of disseminated tuberculosis is variable. Diagnosis is difficult, because clinical manifestations are diverse, more than 50% of patients present late, because microbiological testing relies on invasive procedures for mycobacterial culture and supportive histopathology. Case report: A 30-year-old male patient, deprived of his liberty, with no co-morbidities, was admitted to the hospital for severe pain in the left wrist, with a previous history of having received systemic glucocorticoids for 7 months. He developed clinical symptoms of pulmonary tuberculosis, in the pleura, in the joint of the left wrist and in the left testicle, and tests confirmed the presence of M. tuberculosis. He underwent surgery on the wrist and testicle and was also treated for susceptible tuberculosis. Concomitant sequelae of iatrogenic Cushing's disease, chronic anemia and chronic inactive proctitis were diagnosed. Conclusions: Diagnosis of disseminated tuberculosis was difficult due to the non-specific clinical picture, limitations of confirmatory diagnostic tools and timely specialized evaluations. Prolonged use of systemic corticosteroids may have played a role in the dissemination of tuberculosis.
Introducción: Los pulmones son más afectados en la tuberculosis. La infección también puede comprometer a otros órganos a través de la diseminación linfohematógena. La presentación del cuadro clínico de la tuberculosis diseminada es variable. El diagnóstico es difícil, porque las manifestaciones clínicas son diversas. Más del 50% de los pacientes acuden tardíamente, porque las pruebas microbiológicas dependen de procedimientos invasivos para el cultivo de micobacterias y la histopatología de apoyo. Caso clínico: Paciente varón de 30 años, persona privada de su libertad, sin comorbilidades, ingresó al hospital por dolor intenso en muñeca izquierda, con historia previa de haber recibido glucocorticoides sistémicos durante siete meses. Desarrolló cuadro clínico de tuberculosis pulmonar en pleura, en articulación de la muñeca izquierda y en testículo izquierdo. En los análisis se confirmó presencia de . Fue intervenido quirúrgicamente en muñeca y en el testículo. Además, recibió tratamiento para tuberculosis sensible. Concomitantemente se diagnosticó secuelas de Cushing iatrogénico, anemia crónica y proctitis crónica inactiva. Conclusiones: El diagnóstico de tuberculosis diseminada fue difícil debido al cuadro clínico inespecífico, a las limitaciones de herramientas de diagnóstico confirmatorio y a las evaluaciones especializadas en forma oportuna. El uso prolongado de corticoides sistémicos habría influido en la diseminación de la tuberculosis.
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Diagnóstico Tardío , Humanos , Masculino , Adulto , Tuberculosis Pulmonar/diagnóstico , Mycobacterium tuberculosis/aislamiento & purificación , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Tuberculosis Miliar/diagnósticoRESUMEN
The catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening clinical condition that represents the most severe clinical presentation of the antiphospholipid syndrome (APS). It was first described in 1992 in a group of patients that presented with multiorgan involvement and microangiopathic features of APS. Most of the current knowledge of CAPS comes from the analysis of all cases collected at the "CAPS Registry" that was created in 2000 to perform studies on this condition. Most cases are triggered by a prothrombotic situation that leads to a multiorgan thrombosis and a cytokine storm. The analysis of cases included in the "CAPS Registry" has shown that the triple therapy with anticoagulation, glucocorticoids, and plasma exchange and/or intravenous immunoglobulins is associated to a better prognosis of CAPS. The improvement of the knowledge allowed a decrease from the 50% mortality rate reported in the first series to 25-30% in the most recent publications.