Myositis is a clinical condition with a wide spectrum of clinical presentation. We present the case of 33 years old woman with acute history of pain and swelling of both legs. Investigations confirmed acute bilateral myositis of both calf muscles. She responded well to conservative management with full recovery. Benign acute myositis is more common in children and usually follows viral infection. Although our case may represent an adult form of benign acute childhood myositis, she had no history of preceding infections. Benign acute myositis is increasingly reported in adults. It appears to be self-limited with spontaneous full recovery. The diagnosis is largely based on clinical features. Therefore, clinicians should be aware of this type of myositis to avoid unnecessary invasive investigations.

Asthma is a common pathology worldwide that occurs due to chronic inflammation of the respiratory airways. Persistent pulmonary inflammation leads to low-grade systemic inflammation, influencing blood vessels and triggering coronary artery disease (CAD) events. This review\'s objectives include discussing the susceptible population for CAD, the mechanism underlying CAD creation in asthma patients, the characteristics of asthma, and the influence of anti-asthmatic medications on CAD development. Adult-onset asthma is strongly linked to CAD and stroke. Future research may shed light on these disparities. Atherosclerosis and asthma are linked through both intrinsic and extrinsic pathways, with inflammation being the intrinsic pathway and hypoxia and tachyarrhythmia being the extrinsic pathways. The most probable mechanisms for increased coronary vasospastic angina (CVsA) incidence in asthmatic patients are vascular smooth muscle cell hypercontraction and endothelial dysfunction. Studies have shown a dose-response relationship between asthma control and myocardial infarction (MI) risk, with uncontrolled asthma at the highest risk. Impairment of ventilatory function is a distinct risk factor for lethal MI and cardiovascular death (CVD). The use of beta-2-agonists and chronic oral glucocorticoid therapy in severe asthmatics has been linked to increasing the risk for CAD. However, some studies have shown that the risk of MI among patients with active asthma is not related to the use of asthma medications. Further research is needed to determine the involvement of adult asthma features and their treatments in the development of CAD.

This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease.

Ganglioneuroblastomas (GNBs) are a rare subtype of neoplastic tumors that arise from the autonomic nervous system and contain both mature gangliocytes and immature neuroblasts. The primary age group affected by GNBs is the pediatric population, with less than 50 cases of adult GNBs existing in the literature. To the authors\' best knowledge, only 21 cases of GNBs arising in the adrenal glands of adults have been reported. Herein we present a literature review examining the symptoms, treatment type, age, and sex of adults, and the presence of tumor metastases and calcification from the 21 cases reported in the literature.

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The majority of patients with paratesticular rhabdomyosarcoma (RMS) present in the pediatric age group with a unilateral, painless, palpable scrotum mass. By contrast, cases of RMS presenting as painful edema are rare. We present a case of alveolar paratesticular RMS in a 30-year-old man who had been suffering from a painful swelling of the scrotum on the left side for two years and a preceding mass four months before visiting the clinic. Complete resection of the left epididymal mass was performed through a left inguinal incision. The histopathological and immunohistochemical examination of the mass revealed alveolar RMS of the paratesticular region. Urologists should be aware that paratesticular RMS may present in adults with atypical symptoms such as scrotal pain and edema, especially in those who do not respond to antibiotics. Hence, such patients should have an additional evaluation.

SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients from the Czech Republic with biallelic pathogenic variants in the SPG11. The typical HSP neurological findings are present in all the described patients in that the signs of a complicated phenotype develop slowly. The speed of disease progression, and the severity of gait impairment, was fast in all patients but the phenotype varied from patient to patient. Thin corpus callosum was not observed in two patients. Two Czech SPG11 patients had unusual late onset of disease and both were compound heterozygotes for the c.5381T>C variant. Therefore, we looked for a potential ralationship between the type of variant in the SPG11 gene and the age of disease onset. By reviewing all described SPG11 patients carrying at least one missense pathogenic variant in the SPG11 gene we did not found any relationship between the age of onset and the type of variant. Together twelve pathogenic variants, including gross deletions, were found in the SPG11 gene the Czech SPG11 patients, the c.3454-2A>G variant is novel.

Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and <10% of cases suffer from adult-onset KD. In this study, two Chinese males presented with long-term progressive weakness in their limbs. Magnetic resonance imaging of the brain and spinal cord of these patients revealed lesions with abnormally high signal intensity on T2-weighted (T2W) and T2W fluid-attenuated inversion recovery images. Whole-exome sequencing was performed for both patients, and four GALC mutations were identified. Case 1 carried a novel deletion mutation (p.T633Tfs*2) and a known missense mutation (p.T529M), while case 2 carried a novel missense mutation (p.W355C) and a known missense mutation (p.P154H). Previous literature has rarely reported myelopathy in patients with KD; in this study, we report two cases of adult-onset KD who both experienced myelopathy. We also conducted a literature review of KD and its association with myelopathy. Our findings provide a better understanding of the phenotypic and genotypic profiles associated with adult-onset KD. We recommend that physicians consider KD as a possible diagnosis in cases showing progressive motor dysfunction or gait disorder in association with typical myelopathy.

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The benefits afforded by tocilizumab (TCZ) in patients with adult-onset Still\'s disease (AOSD) and systemic juvenile idiopathic arthritis (SJIA) have been described in previous studies. However, few reports have evaluated severe hypersensitivity reactions (HSRs) to TCZ in patients with AOSD or SJIA. We describe three instances of TCZ-induced anaphylactic reactions in AOSD/SJIA patients, and review relevant prior reports on patients with various rheumatic diseases. Two of our cases exhibited shock and cardiovascular collapse; TCZ was discontinued in all three cases. All events occurred within 20 min of TCZ infusion, after at least three prior infusions, indicating an IgE-mediated mechanism and previous sensitization to TCZ. In all three cases, mild HSRs had been observed about 1 month before the anaphylactic events, but pre-medication with antihistamines and corticosteroids failed to prevent anaphylaxis. All three cases had active AOSD or SJIA disease, and were refractory to other immunosuppressive agents. It is essential to be aware that severe anaphylaxis to TCZ can develop in patients with active refractory AOSD or SJIA, and to be cautious when medicating certain patients. Anaphylaxis is a serious condition that can be fatal; TCZ infusion should not be re-challenged via pre-medication in patients who exhibited mild HSRs before TCZ without desensitization.