We describe an immunodeficient adult with Ogilvie's syndrome preceding a disseminated papulovesicular skin rash in whom varicella-zoster virus infection was demonstrated by PCR assay in cutaneous and ...colonic biopsy specimens. In view of the significant morbidity and mortality that this condition carries, early and accurate molecular diagnosis and timely treatment are strongly recommended.
A man with unsuspected marine eosinophilic gastritis Carrascosa, Miguel F, Prof; Mones, Juan Corral, Prof; Salcines-Caviedes, José R, Prof ...
The Lancet infectious diseases,
02/2015, Letnik:
15, Številka:
2
Journal Article
Recenzirano
Upper gastrointestinal endoscopy showed characteristic findings of gastro-oesophageal reflux disease and Barrett's oesophagus (confirmed by pathological study); an isolated, thickened gastric fold ...(which was biopsied; figure); and no macroscopic evidence of erythema, oedema, erosive gastritis, ulcerations, tumour-like nodules, or worms.
In the present study, we aimed to report our experience with rituximab (RTX) in the treatment of patients with ILD associated with AD (AD-ILD) at a single center. For this purpose, clinical ...characteristics, radiological findings, and pulmonary function tests (PFTs) of RTX-treated AD-ILD-patients seen from May 2016 until March 2020 at a referral center for individuals with ILD were retrospectively reviewed. Additionally, an updated literature review was conducted. A total of 26 patients (mean age 58.3 ± 11.1 years at ILD diagnosis) was included. The most common ADs related to ILD were systemic sclerosis, idiopathic inflammatory myositis (including anti-synthetase syndrome) and rheumatoid arthritis. Non-specific interstitial pneumonia (n = 12) and usual interstitial pneumonia (n = 11) were the predominant radiological patterns. The sustained improvement in PFTs was observed from the start of RTX, with a statistically significant increase in DLCO from basal to one year after RTX (mean + 4.2%, p = 0.024). Overall, there were no differences when comparing PFT outcome according to the radiological pattern or the specific type of AD. In conclusion, RTX constitutes a good therapeutic option to preserve lung function in patients with AD-ILD, regardless of the radiological pattern or the underlying AD.
Abstract Background and objectives Single-organ vasculitis has been reported to affect the skin, kidneys, central nervous system, peripheral nerves, genitourinary tract, calf muscles, aorta, coronary ...arteries, retina, or gastrointestinal tract. However, isolated pulmonary vasculitis is a very rare entity. Our aims were to describe a case of localized pulmonary vasculitis affecting medium-sized vessels and review the literature. Methods A patient with localized pulmonary vasculitis affecting medium-sized vessels that presented as pulmonary arterial hypertension is described. A MEDLINE database search of cases with localized pulmonary vasculitis was also conducted. Results A 30-year-old man presented with pulmonary hypertension due to isolated pulmonary medium-sized vessel vasculitis that was confirmed histologically. Initially he responded to corticosteroids and vasodilator treatment, but therapy eventually lost efficacy. Treatment with rituximab was not effective, and as the clinical situation worsened, lung transplant was performed. Isolated large pulmonary vessel disease, often related to Takayasu disease or giant cell arteritis, may present as pulmonary artery hypertension, thus mimicking chronic thromboembolic disease. Medium- and small-vessel pulmonary vasculitis usually develops in the context of a systemic disease. Some cases of isolated small-vessel vasculitis have been reported presenting as diffuse alveolar hemorrhage. In contrast, our case developed pulmonary artery hypertension secondary to medium-sized vessels vasculitis. To our knowledge, this is the first case of lung transplantation in isolated pulmonary vasculitis. Conclusions Pulmonary isolated vasculitis is a rare cause of pulmonary hypertension but it must be taken into consideration after more common disorders are excluded.
The association of Epstein-Barr virus with pulmonary neoplasms has been restricted to lymphoepithelioma-like carcinomas in Asian patients. We have selected 19 pulmonary adenocarcinomas and ...squamous-cell carcinomas from 1545 pulmonary neoplasms diagnosed from 1996 to 2007 in an occidental population. All of them showed a low-power appearance confusing between an epithelial and a lymphoid neoplasm, with a dense lymphocytic infiltrate intermingled with neoplastic cells giving an image akin to lymphoepithelial complexes. Five carcinomas presented typical features of Lymphoepithelioma-like lung carcinomas; but six cases could be classified as squamous-cell carcinomas and eight as adenocarcinomas. A semiquantitative polymerase chain reaction method, Early RNA genes 1 and 2 in situ hybridization as well as Latent membrane protein immunostaining for Epstein-Barr virus DNA, RNA and protein detection methods were used in every case. None of Lymphoepithelioma-like carcinomas showed positivity for Epstein-Barr virus in any used method. Otherwise four squamous-cell carcinomas and eight adenocarcinomas (12 cases) demonstrated viral sequences in polymerase chain reaction and/or in situ hybridization analysis in neoplastic cells. Moreover two adenocarcinomas also displayed human herpesvirus 6 DNA sequences coamplification in molecular analysis. Protein immunostaining was focally positive in only three cases. We performed the same analysis in 70 more cases of conventional pulmonary squamous-cell carcinomas and adenocarcinomas that gave negative results. In conclusion, a subset of pulmonary squamous-cell carcinomas and adenocarcinomas show Epstein-Barr DNA and/or RNA sequences in neoplastic cells. This finding expands the spectra of epithelial cell common tumours Epstein-Barr virus associated.
(1) Background: Focal and segmental glomerulosclerosis (FSGS) is a pattern of injury that results from podocyte loss in the setting of a wide variety of injurious mechanisms. These include both ...acquired and genetic as well as primary and secondary causes, or a combination thereof, without optimal therapy, and a high rate of patients develop end-stage renal disease (ESRD). Genetic studies have helped improve the global understanding of FSGS syndrome; thus, we hypothesize that patients with primary FSGS may have underlying alterations in adhesion molecules or extracellular matrix glycoproteins related to previously unreported mutations that may be studied through next-generation sequencing (NGS). (2) Methods: We developed an NGS panel with 29 genes related to adhesion and extracellular matrix glycoproteins. DNA was extracted from twenty-three FSGS patients diagnosed by renal biopsy; (3) Results: The average number of accumulated variants in FSGS patients was high. We describe the missense variant
c.1199G>A, which is considered pathogenic; in addition, we discovered the nonsense variant
c.499G>T, which lacks a Reference SNP (rs) Report and is considered likely pathogenic. (4) Conclusions: To the best of our knowledge, this is the first account of a high rate of change in extracellular matrix glycoproteins and adhesion molecules in individuals with adult-onset FSGS. The combined effect of all these variations may result in a genotype that is vulnerable to the pathogenesis of glomerulopathy.
Interstitial lung disease (ILD) may occur in patients with a rheumatic autoimmune disease (AD), increasing their risk of morbidity and mortality. However, little is known about the prevalence of AD ...in patients diagnosed with an ILD. In this prospective study, we determined the spectrum of ILD associated with AD (AD-ILD) among patients sent for assessment to a single clinic of ILD and lung transplantation from a referral center between May 2016 and December 2019. ILD diagnosis was made by pneumologists based on clinical and radiological findings and pulmonary function test abnormalities. All patients with ILD were also assessed by experienced rheumatologists. During the period of assessment, 338 patients were diagnosed with ILD. Among them, 32.8% fulfilled definitions for an AD. Most cases with AD-ILD had a diagnosis of rheumatoid arthritis (27.0%), systemic sclerosis (26.1%) or anti-synthetase syndrome (17.1%). Interestingly, 18% of the patients with AD-ILD were diagnosed as having an interstitial pneumonia with autoimmune features. Antinuclear antibodies and non-specific interstitial pneumonia were the most frequent positive autoantibodies and radiological pattern found in AD-ILD patients, respectively. In conclusion, our study indicates that a high number of ILD patients have a related AD. Consequently, close collaboration among rheumatologists and pneumologists is needed.
Exuberant reparative reactions resembling sarcoma have been reported in the genitourinary tract, thyroid, breast, lymph node, oral cavity and skin, but not in a varicose vein. Presented herein is the ...case of a 55‐year‐old man who showed an incidental nodular lesion in the wall of a varicose vein on the left leg. The nodule consisted of fascicles of spindled cells with ovoid or elongated nuclei and delicate chromatin that showed diffuse reactivity for CD31, alpha‐smooth muscle actin and D2‐40. This histopathological appearance, when coupled with extravasated erythrocytes and interstitial hemosiderin deposits, resembled Kaposi's sarcoma or spindle cell angiosarcoma. Key features helpful for recognizing that the proliferation we describe is a form of tissue repair include an association with obvious hemorrhage; lack of well‐formed curved fascicles of spindled cells; lack of intracytoplasmic hyaline globules; lack of intracellular vacuolization; cytological blandness; low mitotic count; absence of inmmunoreactivity for human herpesvirus‐8 (HHV‐8) latent nuclear antigen‐1; and absence of HHV‐8 in polymerase chain reaction (PCR) analysis.
Val‐Bernal JF, Val D, Garijo MF, Gómez‐Román JJ. Nodular spindle cell proliferation in the wall of a varicose vein mimicking Kaposi's sarcoma.
A woman underwent surgical intervention for a carcinoma of the ovary. In the intervention, a submucosal nodule of the ileum was found. Pathological study revealed a spindle cell lipoma (SCL). This ...case revealed the presence of CD34-positive spindle and stellate cells with dendritic cytoplasmic prolongations, a feature shared with dendritic fibromyxolipoma. Fluorescence in
hybridisation analysis showed 13q14 heterozygous deletion. Spindle cell lipoma of the small intestine has not been previously reported. Spindle cell lipoma, although rare, should be included among the benign mesenchymal lesions of the small intestine. This report extends the range of locations in which this tumour is found to arise.
Sarcoidosis Presenting as Transient Ischemic Attack Status González-Aramburu, Isabel, MD; Ruiz-Pérez, Eva, MD; Gómez-Román, Javier, MD, PhD ...
Journal of stroke and cerebrovascular diseases,
08/2012, Letnik:
21, Številka:
6
Journal Article
Recenzirano
We report a patient who experienced multiple transient ischemic attacks (TIAs) over a 3-month period as the presenting clinical manifestation of sarcoidosis. This previously healthy 27-year-old man ...was admitted due to several daily episodes of usually left hemiparesis and dysarthria lasting between 15 seconds and 3 minutes. He did not respond to aggressive antithrombotic treatment. Extensive investigations were negative except for a computed tomography body scan showing several small right hilar lymphoadenopathies, which were confirmed by abnormal 67-gallium scintigraphy and 18F-fluorodeoxyglucose positron emission tomography uptakes. The TIA episodes disappeared after the initiation of prednisone therapy. The lymphadenopathy specimens were biopsied via mediastinoscopy, and histological study revealed noncaseating epithelioid granulomatous inflammation consistent with sarcoidosis. Sarcoidosis should be considered in the differential diagnosis of stroke of unknown origin in any young patient, even in the absence of other clinical or laboratory features of sarcoidosis.
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