Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Severe fibrosing mediastinitis with atypical presentation: Effective control with novel therapeutic approach.

ABSTRACT: Fibrosing mediastinitis (FM), also known as sclerosing mediastinitis, is an uncommon but serious disease involving the mediastinal structures. A high index of suspicion is essential to establish the diagnosis of FM and starting the appropriate therapy for patients. Here, we report a case of a young female who presented with chest symptoms and subsequently underwent different laboratory and radiologic investigations and an excisional biopsy. The findings of these investigations were consistent with the diagnosis of idiopathic FM. Her disease was associated with complete occlusion of three pulmonary veins and the left main pulmonary artery. The patient was treated with initial high-dose steroids followed by maintenance steroid and methotrexate therapy with very good long-term disease control. Clinical response, high-sensitivity C-reactive protein, and erythrocyte sedimentation rate were used to monitor disease activity and response to therapy.

SUBMITTER: Joury AU

PROVIDER: S-EPMC5541970 | biostudies-other | 2017 Jul-Sep

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Similar Datasets

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Project description:Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations. Histopathological analysis revealed benign fibro-osseous lesions resembling cemento-ossifying fibromas of the jaw without psammomatoid bodies. A novel, de novo, heterozygous, missense mutation was identified in exon 15 of ANO5 (c.1553G>A; p.Gly518Glu). Our findings broaden the phenotypic and molecular spectra of GDD. Fractures early in life with progressive facial swelling are key features. We assessed his response to a total of 7 pamidronate infusions commencing at age 15months. Additional reports must further elucidate the phenotype, explore any genotype-phenotype correlation, and evaluate treatments.

| S-EPMC5987759 | biostudies-literature

Atypical presentation of scimitar syndrome with severe hepatomegaly: a case report.

Project description:BackgroundScimitar syndrome is a rare congenital disease characterized by partial or total anomalous pulmonary venous return from the right lung into the systemic venous system, and accounts for 0.5-2% of all congenital heart disease. Severe forms of the disease are diagnosed in childhood. However, because of the benign form of the syndrome in adults, many are asymptomatic, or present only mild symptoms including exertional dyspnoea, arrhythmias, and respiratory infections. We report an atypical presentation with hepatomegaly.Case summaryA 24-year-old woman was evaluated for abdominal discomfort. Physical examination revealed a remarkable hepatomegaly. Chest X-ray revealed dextroversion, enlargement of the right cavities, and a curvilinear opacity known as 'scimitar sign'. A transthoracic echocardiography demonstrated right ventricular dilation and a venous collector draining into right suprahepatic vein, which was severely dilated, with large hepatomegaly. Scimitar syndrome was confirmed by magnetic resonance imaging (MRI). Therefore, the patient underwent surgery, redirecting the pulmonary venous return to left atrium. Three months later, the patient remained asymptomatic and both the hepatomegaly and the right chamber volumes normalized.DiscussionAbdominal discomfort, as in our clinical case, is a highly atypical presentation of scimitar syndrome. It is important for physicians to be aware that diagnostic suspicion can be established from a chest X-ray, on which the scimitar sign can be distinguished in many cases. The diagnosis must be confirmed with other imaging modalities, such as echocardiography, MRI, or computed tomography. Corrective surgery may relieve the symptoms related to liver congestion at follow-up.

| S-EPMC8374964 | biostudies-literature

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.

Project description:UNLABELLED:Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Markedly decreased enzyme activity of alpha-fucosidosis led to the correct diagnosis. CONCLUSION:Various neurological findings have recently been reported in fucosidosis. However, neuroimaging findings have not been studied in detail except a few studies. It is critically important to discuss the wide neuroradiological spectrum of the disease and to highlight fucosidosis in differential diagnosis of bilateral pallidalhypointensity on T2-weighted images in brain MRI. In addition, description of atypical clinical findings of fucosidosis should avoid clinicians from diagnostic delay.

| S-EPMC4683895 | biostudies-literature

Proteasome Inhibition as a Therapeutic Approach in Atypical Teratoid/Rhabdoid Tumors

Project description:Generation of fpkm lists for 6 cell lines

2019-09-21 | GSE137777 | GEO

Therapeutic Approach to the Management of Severe Asymptomatic Hyponatremia.

Project description:Hyponatremia is an electrolyte imbalance encountered commonly in the hospital and ambulatory settings. It can be seen in isolation or present as a complication of other medical conditions. It is therefore a challenge to determine the appropriate therapeutic intervention. An understanding of the etiology is key in instituting the right treatment. Clinicians must not be too hasty to correct a random laboratory value without first understanding the physiologic principle. We present such a case of a patient who presented with sodium of 98 mmol/L, the lowest recorded in the current literature, and yet was asymptomatic. Following appropriate management driven by an understanding of the underlying pathophysiologic mechanism, the patient was managed to full recovery without any clinically significant neurological sequelae.

| S-EPMC5551525 | biostudies-other

Proteasome inhibition as a therapeutic approach in atypical teratoid/rhabdoid tumors.

Project description:BackgroundAtypical teratoid/thabdoid tumor (AT/RT) remains a difficult-to-treat tumor with a 5-year overall survival rate of 15%-45%. Proteasome inhibition has recently been opened as an avenue for cancer treatment with the FDA approval of bortezomib (BTZ) in 2003 and carfilzomib (CFZ) in 2012. The aim of this study was to identify and characterize a pre-approved targeted therapy with potential for clinical trials in AT/RT.MethodsWe performed a drug screen using a panel of 134 FDA-approved drugs in 3 AT/RT cell lines. Follow-on in vitro studies used 6 cell lines and patient-derived short-term cultures to characterize selected drug interactions with AT/RT. In vivo efficacy was evaluated using patient derived xenografts in an intracranial murine model.ResultsBTZ and CFZ are highly effective in vitro, producing some of the strongest growth-inhibition responses of the evaluated 134-drug panel. Marizomib (MRZ), a proteasome inhibitor known to pass the blood-brain barrier (BBB), also strongly inhibits AT/RT proteasomes and generates rapid cell death at clinically achievable doses in established cell lines and freshly patient-derived tumor lines. MRZ also significantly extends survival in an intracranial mouse model of AT/RT.ConclusionsMRZ is a newer proteasome inhibitor that has been shown to cross the BBB and is already in phase II clinical trials for adult high-grade glioma (NCT NCT02330562 and NCT02903069). MRZ strongly inhibits AT/RT cell growth both in vitro and in vivo via a moderately well-characterized mechanism and has direct translational potential for patients with AT/RT.

| S-EPMC7236404 | biostudies-literature

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.

Project description:BackgroundAchalasia-addisonianism-alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding aladin (AAAS). Aladin is a member of the WD-repeat family of proteins and is a component of the nuclear pore complex. It is thought to be involved in nuclear import and export of molecules. Here, we describe an individual with a paternally inherited truncating variant and a maternally inherited, novel missense variant in AAAS presenting with alacrima, achalasia, anejaculation, optic atrophy, muscle weakness, dysarthria, and autonomic dysfunction.MethodsWhole-exome sequencing was performed in the proband, sister, and parents. Variants were confirmed by Sanger sequencing. The localization of aladin to the nuclear pore was assessed in cells expressing the patient variant.ResultsFunctional testing of the maternally inherited variant, p.(Arg270Pro), demonstrated decreased localization of aladin to the nuclear pore in cells expressing the variant, indicating a deleterious effect. Follow-up testing in the proband's affected sister revealed that she also inherited the biallelic AAAS variants.ConclusionsReview of the patient's clinical, pathological, and genetic findings resulted in a diagnosis of Triple A syndrome.

| S-EPMC9266593 | biostudies-literature

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

Project description:Mutations in the IL-2-inducible T-cell kinase gene have recently been shown to cause an autosomal recessive fatal Epstein Barr virus (EBV) associated lymphoproliferation. We report 3 cases from a single family who presented with EBV-positive B-cell proliferation diagnosed as Hodgkin's lymphoma. Single nucleotide polymorphism array-based genome-wide linkage analysis revealed IL-2-inducible T-cell kinase as a candidate gene for this disorder. All 3 patients harbored the same novel homozygous nonsense mutation C1764G which causes a premature stop-codon in the kinase domain. All cases were initially treated with chemotherapy. One patient remains in durable remission, the second patient subsequently developed severe hemophagocytic lymphohistiocytosis with multi-organ failure and died, and the third patient underwent a successful allogeneic bone marrow transplantation. IL-2-inducible T-cell kinase deficiency underlies a new primary immune deficiency which may account for part of the spectrum of Epstein Barr virus related lymphoproliferative disorders which can be successfully corrected by bone marrow transplantation.

| S-EPMC3046282 | biostudies-literature

Quality Control of Widely Used Therapeutic Recombinant Proteins by a Novel Real-Time PCR Approach.

Project description:BACKGROUND:Existence of bacterial host-cell DNA contamination in biopharmaceutical products is a potential risk factor for patients receiving these drugs. Hence, the quantity of contamination must be controlled under the regulatory standards. Although different methods such as hybridization assays have been employed to determine DNA impurities, these methods are labor intensive and rather expensive. In this study, a rapid real-time PCR test was served as a method of choice to quantify the E. coli host- cell DNA contamination in widely used recombinant streptokinase (rSK) , and alpha interferon (IFN-?) preparations. METHODS:A specific primer pair was designed to amplify a sequence inside the E. coli 16S rRNA gene. Serial dilutions of DNA extracted from E. coli host cells, along with DNA extracted from Active Pharmaceutical Ingredients of rSK, and IFN-? samples were subjected to an optimized real-time PCR assay based on SYBR Green chemistry. RESULTS:The test enabled us to detect a small quantity of genomic DNA contamination as low as 0.0002 pg in recombinant protein-based drugs. For the first time, this study showed that DNA contamination in rSK and IFN-? preparation manufactured in Pasteur Institute of Iran is much lower than the safety limit suggested by the US FDA. CONCLUSION:Real-time PCR is a reliable test for rapid detection of host-cell DNA contamination, which is a major impurity of therapeutic recombinant proteins to keep manufacturers' minds on refining drugs, and provides consumers with safer biopharmaceuticals.

| S-EPMC4689282 | biostudies-literature

Targeting complement hyperactivation: a novel therapeutic approach for severe pneumonia induced by influenza virus/staphylococcus aureus coinfection.

Project description: Not available

| S-EPMC10754916 | biostudies-literature