Search results for "Fatal Outcome"

Proper assignation of reactivation in a COVID-19 recurrence initially interpreted as a reinfection

2021

A 77-year-old-male (Case R) who had had a previous diagnosis of mild COVID-19 episode, was hospitalized 35 days later. On Day 23 post-admission, he developed a second COVID-19 episode, now severe, and finally died. Initially, Case R COVID-19 recurrence was interpreted as a reinfection due to the exposure to a SARS-CoV-2 RT-PCR-positive room-mate. However, whole-genome-sequencing indicated that case R recurrence corresponded to a reactivation of the strain involved in his first episode. Case R reactivation had major consequences, leading to a more severe episode, and causing a subsequent transmission to another two hospitalized patients, one of them with fatal outcome.

Early and rapidly progressing respiratory failure in a patient with amyotrophic lateral sclerosis: when FVC% is misleading

2018

Introduction Respiratory failure is the leading cause of death in amyotrophic lateral sclerosis (ALS) [1]. The involvement of respiratory function is a negative predictor of survival, which can be in part overcome by a prompt initiation of non-invasive mechanical ventilation (NIV). Seated forced vital capacity (FVC%) is a widely used measure to monitor respiratory function, and it is often taken as a surrogate outcome measure in clinical trials. However, it may be within a normal range in ALS patients with respiratory dysfunction [2]. Here we report on a case of an ALS patient with a rapidly evolving respiratory insufficiency, despite a rather normal FVC%. Case presentation The patient, a 6…

Pulmonary Strongyloides stercoralis infection.

2016

Use of 2 hydroxypropyl-beta-cyclodextrin therapy in two adult Niemann Pick Type C patients

2016

Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

2021

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining C…

Odontogenic abscess complicated by descending necrotizing mediastinitis: evidence of medical and dental malpractice

2016

Multiple renal aspergillus abscesses in an AIDS patient: contrast-enhanced helical CT and MRI findings.

1999

Renal insufficiency or allergic reactions for X-ray contrast agents are frequent limitations in immunocompromised hosts such as neutropenic or AIDS patients. Due to a better tolerance of contrast agents in MRI, this technique is well suited for investigation of parenchymal organs. We demonstrate an allergic AIDS patient who presented with fever and flank pain. At sonography, anechoic renal lesions were supposed to be non-complicated cysts; however, on T2-weighted MRI, the center was of high signal. Dynamic contrast-enhanced MRI of the kidneys demonstrated an enhancing rim with ill-defined margins. The lesions were supposed to be multiple bilateral abscesses. Due to the multiple dynamic cont…

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

2013

In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…

Images in cardiovascular medicine. Anomalous origin and course of the right coronary artery.

2006

Coronary anomalous origin from the wrong aortic sinus has been thought to be a risk factor for ischemia because of acute takeoff from the aorta and flow between the aorta and the pulmonary artery.1–4 A 30-year-old man suddenly died within an hour of waking. His clinical history revealed no evidence of any disease, and the postmortem toxicological examination was negative. Autopsy ruled out violent or natural noncardiac causes of death and revealed an underlying congenital heart disease, which was characterized by a congenital bicuspid aortic valve and an anomalous origin of the right coronary artery just above the median raphe of the anterior cusp

Rickettsia typhi and Haemophagocytic Syndrome

2017

Appropriate therapy (dexamethasone, cyclosporin, and etoposide) could save the patient in those cases in which the pathogen-direct therapy has not been sufficient by itself to control the disease.