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...
With a potential match arising at the height of the COVID-19 pandemic, Upstate and the patient, Lonel Woods, had to take many extra steps to ensure everyone ’s safety.
Publication date: Available online 3 June 2020Source: SeizureAuthor(s): Maria Teresa Faria, Ricardo Rego, Helena Rocha, Francisca Sá, Rui Farinha, Ana Oliveira, Pedro Barata, Dílio Alves, Jorge Pereira, Francisco Rocha-Gonçalves, Hernâni Gonçalves, Elisabete Martins
Publication date: Available online 3 June 2020Source: Brain StimulationAuthor(s): Bornali Kundu, Tyler S. Davis, Brian Philip, Elliot H. Smith, Amir Arain, Angela Peters, Blake Newman, Christopher R. Butson, John D. Rolston
CONCLUSION: This study seems to depict the existence of resting state hippocampo-lingual functional network which correlates well with lateralization of language function in the left hemisphere in both temporal lobe epilepsy patients and healthy controls. PMID: 32490643 [PubMed - as supplied by publisher]
Publication date: Available online 3 June 2020Source: Clinical Lymphoma Myeloma and LeukemiaAuthor(s): Patrick Stelmach, Klaus Wethmar, Christoph Groth, Daniela V. Wenge, Jörn Albring, Jan-Henrik Mikesch, Christoph Schliemann, Christian Reicherts, Wolfgang E. Berdel, Georg Lenz, Matthias Stelljes
Authors: Meregildo ED Abstract Neurocysticercosis (NCC) is a global health problem. In more developed countries, NCC is mainly a disease affecting immigrants. In developing countries, NCC is the most common parasitic disease of the nervous system and the main cause of acquired epilepsy. NCC is also an unrecognized cause of strokes and could account for 4%-12% of strokes. Here, I report a case of a 58-year-old woman who presented to the emergency department (ED) with severe headache, vomiting, and sudden loss of consciousness. Multiple NCC and Fisher grade 4 aneurysmal subarachnoid hemorrhage (SAH) were demonstrated...
We present a patient with childhood idiopathic generalised epilepsy (IGE) who later developed HSP. She rapidly deteriorated 27 years later with clinically definite amyotrophic lateral sclerosis (ALS). Her family history included HSP, IGE and motor neurone disease. Genetic testing identified a pathogenic variant in theNIPA1 gene associated with spastic paraplegia 6 (SPG6). This case provides the first description ofNIPA1 in a family with epilepsy, ALS and thus complex HSP.
ConclusionsThe novel mutation of c. 156 G>T inCD40LG gene probably leads to XHIGM by nonsense-meditated mRNA decay (NMD), and complex PGT of preimplantation genetic testing for monogenic disease (PGT-M), aneuploidy (PGT-A), structural rearrangement (PGT-SR), and HLA-matching (PGT-HLA) can be performed in pedigree with both X-linked hyper IgM syndrome and Robertsonian translocation.
Vietnam's most gravely ill COVID-19 patient, a British pilot who works for its national airline, has started to recover from the illness and may no longer require a lung transplant, state media said on Wednesday.Reuters Health Information
This article presents current knowledge on cryptococcal infections, including epidemiology, clinical aspects, diagnosis and recommended treatment. In reference to our patient, who developed a disseminated and fulminant subtype of the disease, we wanted to underline the need to examine patients thoroughly. The highest aim of those measures would be to avoid lethal consequences. PMID: 32489347 [PubMed]
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