Ella’s legacy: Turning tragedy into an international advocacy network for PVNH

By Yolaine Dupont Ella She was born in Vancouver, British-Columbia at 39 weeks, weighing 5 lbs. and 7 oz. With a nearly flawless APGAR score, her father’s mouth and nose, along with my eyes and full set of dark hair. Just as I imagined she would be, Ella was picture perfect. Still, I had an uneasy feeling. Ella was frail, and her breathing seemed off. I mentioned it to her doctor and nurse, only to be quickly reassured that all was okay. After five days, I took her home. But that upsetting feeling would not go away. The old expression “Mom knows best” turned out to be true. By Ella’s second month, she was admitted to the emergency room and was diagnosed with bronchiolitis, following a few tests. After a short stay, we were sent home. Two weeks later, cutting our trip to introduce her to family short, Ella went back into the hospital. A follow-up x-ray had shown a clear progression of lung disease, and doctors were careful to rule out food aspiration and the more scary diagnosis of cystic fibrosis. But nothing prepared us for what was to come. At 3 months old, Ella “the Zebra” (as she became known) was puzzling doctors. Her lungs were badly damaged, plagued by emphysema. We were told she was too young for lung resection or a transplant, despite the fact she was struggling to breathe. Her saturation would suddenly drop as low as the 40 and 30s. Ninety-six is the normal saturation at room temperature. After spending one month in the hospi...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: All posts Diseases & conditions Our patients’ stories Research cytomegalovirus our patients' stories PVNH Source Type: news

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Authors: Joshua DE, Bryant C, Dix C, Gibson J, Ho J Abstract Genetic sequencing of the myeloma genome has not revealed a specific disease-determining genetic alteration. Multiple disease subclones exist at diagnosis and vary in clinical importance with time and drug sensitivity. New diagnostic criteria have identified indications for early introduction of therapy. Autologous stem cell transplantation remains an essential component of therapy in young and fit patients. The use of continual suppressive (maintenance) therapy has been established as an important component in therapy. Immune therapies and the harnessing...
Source: Medical Journal of Australia - Category: General Medicine Tags: Med J Aust Source Type: research
We reported previously the generation of human HCT116 mutants in which the C terminus of endogenous proteins was fused with the degron by CRISPR–Cas9-based knock-in. Here, we show new plasmids for N-terminal tagging and describe a detailed protocol for the generation of AID mutants of human HCT116 and DLD1 cells. Moreover, we report the use of an OsTIR1 inhibitor, auxinole, to suppress leaky degradation of degron-fused proteins. The addition of auxinole is also useful for rapid re-expression after depletion of degron-fused proteins. These improvements enhance the utility of AID technology for studying protein functio...
Source: Methods - Category: Molecular Biology Source Type: research
We present a case of an incidental renal mass on preoperative donor transplant evaluation and subsequent ex-vivo donor partial nephrectomy at the time of renal transplantation. PMID: 31012840 [PubMed - in process]
Source: Canadian Journal of Urology - Category: Urology & Nephrology Tags: Can J Urol Source Type: research
In this study, eleven patients diagnosed with different inborn errors of metabolism (IEMs) who required living-related LTx were enrolled in order to establish a potentially useful noninvasive method to monitor graft damage. Circulating cell-free DNA (cfDNA) was extracted from plasma specimens serially collected at specific time points (day 0, day 1, day 7, day 14, day 30, day 60) after LTx. The distribution of Gcf-DNA fragment sizes was measured using sequencing read lengths and quantified by using Y-chromosome capture methodology in seven sex-mismatched recipients. In the analysis of fragment size distribution, we observe...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Conclusion: CMV-related protein-losing gastropathy may present with generalized edema without any gastrointestinal symptoms.
Source: Medical Principles and Practice - Category: Internal Medicine Source Type: research
In a recent note, I discussed how Apple was sponsoring theMIPACT study at the University of Michigan involving the use of Apple Watches + iPhones and home health monitoring (see:MIPACT Study Sponsored by Apple Provides a Preview of Home Health Monitoring). A recent article predicts that healthcare will be a major source of revenue for Apple in the future (see:Health care is one of Apple's most lucrative opportunities). Below is an excerpt from the article:Apple's opportunity in health care is so large with the Apple Watch that the company should soon generate tens of billions of dollars a year in annual revenue fro...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Diagnostics Electronic Health Record (EHR) Healthcare Business Healthcare Information Technology Healthcare Innovations Medical Research Predictive Analytics Preventive Medicine Source Type: blogs
CONCLUSIONS: Our study is limited in that it cannot establish a causal relationship between adherence to psychotherapy and outcomes, and the results may not generalize beyond the single quaternary care center study site. Among participants with documented PNES, adherence to psychotherapy was associated with reduction in PNES frequency, improvement in quality of life, and decrease in ED visits. PMID: 31012324 [PubMed]
Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
Authors: Ahmed OJ, Sudhakar SK Abstract Stereotyped high-frequency oscillations discriminate seizure onset zones and critical functional cortex in focal epilepsy. Liu S, Gurses C, Sha Z, Quach MM, Sencer A, Bebek N, et al. Brain. 2018;141(3):713-730. doi:10.1093/brain/awx374. PMID: 29394328 . High-frequency oscillations in local field potentials recorded with intracranial electroencephalogram are putative biomarkers of seizure-onset zones in epileptic brain. However, localized 80- to 500-Hz oscillations can also be recorded from normal and nonepileptic cerebral structures. When defined only by rate or frequency, ph...
Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
Conclusions: Results presented here are consistent with previous speculations that the axial organ may be a site of coelomocyte proliferation and that it may also be a center for cellular removal and recycling. A second site, the pharynx, may also have hematopoietic activity, a tissue that has been assumed to function only as part of the intestinal tract. Background Hematopoiesis Hematopoiesis is the process in which a multipotent hematopoietic stem cell differentiates into one of potentially many terminally differentiated blood cell types (1). This process is tightly regulated by micro-environmental cues in hematop...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusions: Prefrontal gyrification is reduced in children with ADHD who also carry the DRD4 7R allele, and it relates to critical functional skills in the executive domain in carriers of the risk allele. More broadly, these effects highlight the importance of considering precise neurodevelopmental mechanisms through which risk alleles influence cortical neurogenesis and migration.IntroductionAttention deficit/hyperactivity disorder (ADHD) is a heterogeneous neuropsychiatric disorder characterized by developmentally inappropriate symptoms of inattention, impulsivity, and hyperactivity. The disorder is thought to affect ar...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
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