Atypical rheumatoid nodules: a possible precursor to a rheumatoid variant in a rheumatoid-factor-negative patient. Case report.
Ontology highlight
ABSTRACT:
SUBMITTER: Kim S
PROVIDER: S-EPMC2654946 | biostudies-other | 2009 Mar
REPOSITORIES: biostudies-other
Similar Datasets
Project description:IntroductionRheumatoid nodules occur in 30 percent of patients with active rheumatoid arthritis. Common sites include the buttocks or the extensor surface of the forearm, with one group documenting their presence in the thyrohyoid membrane. To the best of our knowledge, rheumatoid nodules have not been described in the thyroid bed.Case presentationWe present the case of a 46-year-old Caucasian woman with active rheumatoid arthritis and Hashimoto's thyroiditis who presented with compressive neck symptoms. An ultrasound scan revealed that both lobes of her thyroid were enlarged. The right lobe measured 7.9×3.4×3.3cm and the left 8.3×3.3×3.1cm. A solitary 1.0×0.6×0.8cm nodule was seen in the right lower lobe. Her thyroid-stimulating hormone level was 4.22uU/mL (0.34 to 5.60). A total thyroidectomy was performed due to her symptoms and the possible growth of a nodule when on levothyroxine. A postoperative ultrasound scan showed no remaining thyroid tissue. The pathology revealed several small neoplasms ranging from a well-encapsulated adenoma to highly atypical follicular and papillary Hurthle cell lesions in the setting of Hashimoto's thyroiditis. Low-dose radioactive iodine (33.4mCi) was given. Four months later, our patient complained of a feeling of fullness in her neck. A solid nodule of mixed echogenicity (5.6×3.3×2.3cm) was seen in the right level VI of the neck, and solid tissue of mixed echogenicity (2.9×2.3×1.7cm) on the left. Following repeat surgery, the pathology from the right specimen showed Hashimoto's thyroiditis. The left specimen had areas of granuloma formation with fibrinoid necrosis and palisading histiocytes, consistent with the histology of rheumatoid nodules. No evidence of malignancy was seen. The patient continues to do well and remains disease-free.ConclusionsRheumatoid nodules have not been reported in the thyroid bed. Their pathogenesis is not clear. Postoperative release of tumor necrosis factor alpha and local vascular damage may have triggered the nodule formation in this case. Rheumatoid nodules must be kept in the differential diagnosis of an enlarging thyroid in the setting of active rheumatoid arthritis. A fine-needle aspiration biopsy may show granuloma formation and be the most cost-effective initial diagnostic step, especially if there is a concern for malignancy. Early identification of these nodules will help decrease morbidity from unnecessary interventions and result in treatment that is both timely and appropriate.
| S-EPMC3843512 | biostudies-literature
Project description:Rheumatoid nodules occur frequently in patients with rheumatoid arthritis and are the most common cutaneous manifestation of the disease. Although uncommon, rheumatoid nodules may also occur on cardiac valves, where they may be large and clinically significant. They may embolize and cause stroke. They may cause regurgitant murmurs, or they may result in valvular destruction. Echocardiographically, they may mimic an atrial myxoma or appear as a vegetation. We present a patient with seronegative rheumatoid arthritis who developed an acute embolic stroke; he had peripheral stigmata of infective endocarditis on physical examination and echocardiography revealed a mitral valve vegetation. We illustrate that these findings were due to a large, highly destructive mitral valve rheumatoid nodule. We review the literature on macroscopic endocardial nodules and emphasize their diverse clinical behavior.
| S-EPMC5538220 | biostudies-other
Project description:As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses. Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variation is predicted to result in instability of the protein structure. The association between GRIA2 variants and onset of ASD symptoms is rare, and our study expands the spectrum of phenotypic variations. For patients with an unexplained etiology of ASD accompanied by psychiatric symptoms, genetic causes should be considered, and a complete genetic evaluation should be performed.
| S-EPMC9632133 | biostudies-literature
Project description:Epidemiological trends have demonstrated re-emergence of neurosyphilis in the twenty-first century. As prevalence rises in clinical practice, neurosyphilis must be considered in the differential diagnosis even if initial diagnostic workup is unrevealing, especially in patients with human immunodeficiency virus (HIV). Co-infection of neurosyphilis and HIV can result in atypical presentations. In this report, we discuss a challenging diagnosis of neurosyphilis in a man with HIV who presented with atypical imaging findings and initially negative cerebrospinal fluid (CSF) nontreponemal testing. Our patient underwent repeated CSF evaluation and a comprehensive diagnostic workup, including brain biopsy, to arrive at the appropriate diagnosis. He received antibiotic treatment with excellent outcome. We review typical imaging features of neurosyphilis and highlight other neurological diseases that may mimic these radiographic findings. We discuss CSF testing and interpretation in this high-risk patient population.
| S-EPMC8182402 | biostudies-literature
Project description:IntroductionIt has been hypothesized that silent hypoxemia is the cause of rapid progressive respiratory failure with severe hypoxia that occurs in some COVID-19 patients without warning.Presentation of caseA 60-year-old male presented cough without any breathing difficulty. Vital signs showed blood pressure 130/75 mmHg, pulse 84x/minute, respiratory rate (RR) 21x/minute, body temperature 36.5C, and oxygen saturation (SpO2) 75% on room air. RT-PCR for COVID-19 were positive. On third day, he complained of worsening of breath shortness, but his RR was still normal (22x/minute) with SpO2 of 98% on 3 L/minute oxygen via nasal cannula. On fifth day, he experienced severe shortness of breath with RR 38x/minute. He was then intubated using a synchronized intermittent mandatory ventilation. Blood gas analysis showed pH 7.54, PaO2 58.9 mmHg, PaCO2 31.1 mmHg, HCO3 26.9mEq/L, SaO2 94.7%, FiO2 30%, and P/F ratio 196 mmHg. On eighth day, his condition deteriorated with blood pressure 80/40 mmHg with norepinephrine support, pulse 109x/minute, and SpO2 72% with ventilator. He experienced cardiac arrest and underwent basic life support, then resumed strained breathing with return of spontaneous circulation. Blood gas analysis showed pH 7.07, PaO2 58.1 mmHg, PaCO2 108.9 mmHg, HCO3 32.1mEq/L, SaO2 78.7%, FiO2 90%, and P/F ratio 65 mmHg. Three hours later, he suffered cardiac arrest again and eventually died.DiscussionPossible mechanisms of silent hypoxemia are V/Q mismatch, intrapulmonary shunting, and intravascular microthrombi.ConclusionsSilent hypoxemia might be considered as an early sign of deterioration of COVID-19 patients, thus, physician may be able to intervene early and decrease its morbidity and mortality.
| S-EPMC7685064 | biostudies-literature
Project description:Autoimmune limbic encephalitis is an antibody-mediated brain inflammatory process, which typically involves the medial temporal lobe. Diagnosis requires the presence of antineuronal antibodies, but sometimes patients present clinical features of limbic encephalitis despite negative serology. Thus, the diagnosis of antibody-negative limbic encephalitis is difficult to make, and it must often rely largely on exclusion of other causes. This current case report describes a 28-year-old male that presented 2 months after the acute event with radiological changes typical of limbic encephalitis, but with no identifiable antibody and neuropsychological impairment. Antibody responses to neurotropic viruses and antibody-mediated encephalitis were negative in serum and cerebrospinal fluid. Magnetic resonance imaging showed signs of hyperintensity in the hippocampus bilaterally, amygdala and left pulvinar. The neuropsychological evaluation showed a deficit in emotional face recognition and severe autobiographical amnesia. Bilateral damage to the medial temporal lobe and hippocampus, including the amygdala, is associated with alterations in autobiographical memories. The neuropsychological impairment documented in this current case expands the range of clinical features of antibody-negative encephalitis and provides evidence that the memory deficit in this disorder is more extensive than was previously recognized.
| S-EPMC8832620 | biostudies-literature
Project description:IntroductionThe nasopharyngeal angiofibroma (NA) is a benign tumor that originates from the pterygopalatine fossa and extends to the adjacent anatomical structures and affects frequently young individuals. The basic treatment for NA is surgical resection, but in some cases the tumor is surgically inaccessible.Case presentationWe describe the case of a 45-year-old male with respiratory difficulty after the appearance of a soft palate lesion. The clinical appearance of NA was not specific.DiscussionThere are still discussions about the best therapeutic strategy and controversies about performing incisional biopsy. To our knowledge, this is the first report of a NA in an adult patient in which the general health conditions prevented the therapeutic approach, besides the extension of the lesion and its complications.ConclusionOur case shows that NA may reach high proportions and its involvement in older patients should be considered. In this report, we showed the limitation of the therapeutic strategy for advanced cases of NA.
| S-EPMC6172416 | biostudies-literature
Project description:Many normal variants of bones on plain radiographs have been reported.In the current report, a 14-year-old Asian girl noticed an occasional slight elbow pain. She had no traumatic episode. Plain radiographs showed a well-defined osteolytic lesion with a sclerotic rim, which was continuous with the normal subarticular bone in the distal humerus. Magnetic resonance imaging revealed that the defect area seen on the plain radiograph showed low-signal to iso-signal intensity on T1-weighted images and slightly high-signal intensity on T2-weighted fat suppression images. Bone edema was not observed. The association between her elbow pain and the lesion was not conclusive.The findings from the images suggested that the lesion was a normal variant rather than osteochondritis dissecans or a neoplastic lesion, and possibly an anatomical counterpart of a dorsal defect of the patella.
| S-EPMC5559787 | biostudies-other
Project description:A higher prevalence of parkinsonism was recently identified in southeastern Moravia (Czech Republic). Further research confirmed 3 large pedigrees with familial autosomal-dominant parkinsonism spanning 5 generations.This case report concerns a patient belonging to one of these 3 pedigrees, in whom motor and oculomotor symptoms were accompanied by frontal-type dementia, who finally developed a clinical phenotype of progressive supranuclear palsy. Molecular genetic examinations were performed due to the positive family history.No previously described causal mutation was found. After filtering against common variants (minor allele frequency (MAF)?<?0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G?>?A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102?+?33G?>?A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A?>?G, rs41311141).As to the changes in the FBXO7 and VPS35 genes (despite phylogenetic conservation in primates), probably neither the FBXO7 nor the VPS35 variants will be direct causal mutations. Both described variants, and possibly the influence of their combination, could increase the risk of the disease.
| S-EPMC5120934 | biostudies-literature
Project description:Atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative is a rare myelodysplastic syndrome/myeloproliferative neoplasm for which no current standard of care exists. The blood smear of patients with aCML showed prominent immature granulocytosis, and granulocytic dysplasia. We admitted a 58-year-old man with splenomegaly, hyperleukocytosis, anemia, and thrombocytopenia; then cytology, cytogenetic and molecular biology analysis of bone morrow were performed and the diagnosis of aCML was made according to 2016 World Health Organization diagnostic criteria. The patient was initially treated by chemotherapy; the patient achieved an aggravation of anemia. This motivated the change of treatment.
| S-EPMC6551503 | biostudies-literature