Andes virus and first case report of Bermejo virus causing fatal pulmonary syndrome.
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ABSTRACT:
SUBMITTER: Padula P
PROVIDER: S-EPMC2730253 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundCostello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities, and a variable degree of intellectual disability.Case presentationWe describe the case of a 20-month-old male patient with fetal macrosomia and polyhydramnios, presenting psychomotor development delay and growth limitation during the first months of life. CS was diagnosed at four months of age after detecting a variant of the HRAS gene c.35G > C (p.G12A). A clinical description of his condition was recorded throughout his life, including cardiovascular diseases, endocrine disorders, and recurrent infections. At 20 months of age, after presenting events of marked hypotonia and generalized seizures, brain magnetic resonance revealed symmetrical lesions of the infra- and supratentorial white matter in both cerebral hemispheres, which resulted in the diagnosis of cerebral leukodystrophy. The patient had a rapid and progressive deterioration that eventually led to death.ConclusionsThis is the first report of a case of CS in Peru. In addition, this is a case that presented with multisystemic conditions culminating in leukodystrophy, which is a rare event according to the literature.
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Project description:This is a case of a 70-year-old male patient with a history of degenerative mitral valve disease who presented to the emergency department with progressively worsening dyspnea. Prominent findings were rapid atrial fibrillation and unilateral pulmonary edema. Transthoracic and transesophageal echocardiography revealed chordal rupture-related severe-eccentric mitral regurgitation. The patient underwent surgical mitral valve repair.Learning objectives•To acknowledge that the clinical presentation may not be as dramatic when acute mitral regurgitation (MR) is superimposed on chronic MR, due to the increased left atrium compliance•To bear in mind that eccentric jets of severe MR can cause unilateral pulmonary infiltrates, mimicking a primary pulmonary process•To remind that rapid atrial fibrillation might be the result rather than the cause of acute cardiac decompensation.
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Project description:BackgroundMyocardial infarction on non-occluded coronary artery represents a very specific subset of acute coronary syndrome (ACS). Coronary subclavian steal syndrome (CSSS) is defined by a left subclavian artery stenosis in case of (i) left internal mammary artery (LIMA) used to bypass left anterior descending artery (LAD) and (ii) >75% stenosis of the left subclavian artery prior to the origin of the LIMA to LAD graft. Here we report the case of a CSSS causing ACS.Case summaryA 71-year-old man with history of LIMA to LAD coronary artery bypass surgery was admitted to the nephrology intensive care unit for acute kidney injury requiring dialysis. Due to rapid deterioration, altered left ventricular ejection fraction and elevated c-troponin levels, an urgent coronary angiography was performed. It revealed a subtotal occlusion of the left subclavian artery prior to the origin of the LIMA to LAD graft. This was responsible for a severely altered coronary flow in the LIMA and LAD. Revascularization of the proximal left subclavian artery with a stent was performed, enabling instant recovery of distal coronary flows.DiscussionACS due to CSSS in this report highlights the complexity of the cardio-renal interaction. Patients with coronary artery bypass graft and chronic kidney disease commonly exhibit a higher risk for severe progression of atherosclerosis at multiple sites. CSSS treatments include secondary prevention measures and revascularization (if indicated) such as an endovascular approach.
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Project description:BackgroundAxenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS.Case presentationTwo members of this family (father and daughter) presented with typical ARS and developed severe glaucoma. The ocular phenotype was much more severe in the daughter than in the father. Magnetic resonance imaging (MRI) detected an aggressive form of meningioma in the father. There was no mutation in the PITX2 gene, determined by exon screening. We identified an intragenic deletion by quantitative genomic PCR analysis and characterized this deletion in detail.ConclusionOur findings implicate the first intragenic deletion of the PITX2 gene in the pathogenesis of a severe form of ARS in an affected family. This study stresses the importance of a systematic search for intragenic deletions in families affected by ARS and in sporadic cases for which no mutations in the exons or introns of PITX2 have been found. The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments.
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Project description:Andes virus is unique among hantaviruses because it can be transmitted from person to person. This mechanism was previously supported by epidemiologic data and genetic evidence based only on partial sequences. We used full-length virus sequencing to confirm person-to-person transmission of this virus in a cluster of 3 cases in Argentina in 2014.
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Project description:BK virus (BKV)-hemorrhagic cystitis (HC) is a well-known and rarely fatal complication of hematopoietic stem cell transplantation (HSCT). Treatment for BKV-HC is limited, but virus-specific T-cells (VST) represent a promising therapeutic option feasible for use posttransplant. We report on the case of a 16-year-old male with dedicator of cytokinesis 8 (DOCK8) deficiency who underwent haploidentical HSCT complicated by severe BKV-HC, catastrophic renal hemorrhage, and VST-associated cytokine release syndrome (CRS). Gross hematuria refractory to multiple interventions began with initiation of posttransplant cyclophosphamide (PT/Cy). Complete left renal arterial embolization (day +43) was ultimately indicated to control intractable renal hemorrhage. Subsequent infusion of anti-BK VSTs was complicated by CRS and progressive multiorgan failure, with postmortem analysis confirming diagnosis of hepatic sinusoidal obstruction syndrome (SOS). This case illustrates opportunities for improvement in the management of severe BKV-HC posttransplant while highlighting rare and potentially life-threatening complications of BKV-HC and VST therapy.
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Project description:BackgroundThere are thousands of survivors of the 2014 Ebola outbreak in west Africa. Ebola virus can persist in survivors for months in immune-privileged sites; however, viral relapse causing life-threatening and potentially transmissible disease has not been described. We report a case of late relapse in a patient who had been treated for severe Ebola virus disease with high viral load (peak cycle threshold value 13.2).MethodsA 39-year-old female nurse from Scotland, who had assisted the humanitarian effort in Sierra Leone, had received intensive supportive treatment and experimental antiviral therapies, and had been discharged with undetectable Ebola virus RNA in peripheral blood. The patient was readmitted to hospital 9 months after discharge with symptoms of acute meningitis, and was found to have Ebola virus in cerebrospinal fluid (CSF). She was treated with supportive therapy and experimental antiviral drug GS-5734 (Gilead Sciences, San Francisco, Foster City, CA, USA). We monitored Ebola virus RNA in CSF and plasma, and sequenced the viral genome using an unbiased metagenomic approach.FindingsOn admission, reverse transcriptase PCR identified Ebola virus RNA at a higher level in CSF (cycle threshold value 23.7) than plasma (31.3); infectious virus was only recovered from CSF. The patient developed progressive meningoencephalitis with cranial neuropathies and radiculopathy. Clinical recovery was associated with addition of high-dose corticosteroids during GS-5734 treatment. CSF Ebola virus RNA slowly declined and was undetectable following 14 days of treatment with GS-5734. Sequencing of plasma and CSF viral genome revealed only two non-coding changes compared with the original infecting virus.InterpretationOur report shows that previously unanticipated, late, severe relapses of Ebola virus can occur, in this case in the CNS. This finding fundamentally redefines what is known about the natural history of Ebola virus infection. Vigilance should be maintained in the thousands of Ebola survivors for cases of relapsed infection. The potential for these cases to initiate new transmission chains is a serious public health concern.FundingRoyal Free London NHS Foundation Trust.
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Project description:BackgroundPlatypnoea-orthodeoxia syndrome (POS) is a rare condition characterized by hypoxaemia and dyspnoea when changing from a recumbent to an upright position. Diagnosis requires a high clinical suspicion and is often underdiagnosed.Case summaryWe report a case of POS in a 50-year-old woman with dyspnoea and new-onset atrial fibrillation. Oxygen saturation and dyspnoea worsened as she changed from a supine to a sitting position (96 vs. 86%, respectively). Transoesophageal echocardiography demonstrated enlargement of both atria and right ventricle with reduced systolic function and a large Chiari network (CN). Colour Doppler discovered severe tricuspid regurgitation with tenting and tethering of the valve leaflets. Finally, a bubble test revealed the cause of POS to be a patent foramen ovale along with the severe tricuspid regurgitant jet moving into the left atrium and favoured by the CN. Surgical closure of the foramen ovale resulted in the resolution of symptoms.DiscussionPlatypnoea-orthodeoxia syndrome is most commonly caused by a right-to-left shunt through an anatomical defect of the interatrial septum, typically a patent foramen ovale, combined with elevated right atrium pressure. This case illustrates an uncommon cause of POS in the absence of elevated atrium pressure due to the interplay of three key elements: a patent foramen ovale, tricuspid regurgitation, and the CN. Our aim is to alert physicians to the possibility of an intracardiac shunt as the cause of unexplained and/or refractory hypoxaemia related to position changes. Early recognition of this syndrome promotes timely treatment, greatly improving patient outcomes.
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Project description:IntroductionWe report the case of a fatal hemorrhagic varicella primary infection in an immunocompetent man and whole-genome characterization of the virus for the investigation of biomarkers of virulence.CaseA 38-year-old patient born in Nigeria presented to the emergency department with abdominal pain and subsequently developed fatal hemorrhagic disease without skin rash. Extensive laboratory tests including serology and PCR for arenaviruses, bunyaviruses and ebolaviruses were negative. Varicella-zoster virus (VZV) PCR of sera, liver and spleen tissue samples from autopsy revealed the presence of VZV DNA. Primary infection by varicella-zoster virus with hemorrhagic manifestations was diagnosed after virological testing. The VZV genome was sequenced using a mWGS approach. Bioinformatic analysis showed 53 mutations across the genome, 33 of them producing non-synonymous variants affecting up to 14 genes. Some of them, such as ORF11 and ORF 62, encoded for essential functions related to skin or neurotropism. To our knowledge, the mutations reported here have never been described in a VZV causing such a devastating outcome.DiscussionIn immunocompetent patients, viral factors should be considered in patients with uncommon symptoms or severe diseases. Some relevant mutations revealed by using whole genome sequencing (WGS) directly from clinical samples may be involved in this case and deserves further investigation.ConclusionDifferential diagnosis of varicella-zoster virus in immunocompetent adults should be considered among patients with suspected VHF, even if the expected vesicular rash is not present at admission and does not arise thereafter. Whole genome sequencing of strains causing uncommon symptoms and/or mortality is needed for epidemiological surveillance and further characterization of putative markers of virulence. Additionally, this report highlights the recommendation for a VZV vaccination policy in non-immunized migrants from developing countries.
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