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Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
Discussion: This large family with DBA demonstrates the heterogeneity of phenotypes that can be seen within the same genotype. Most family members presented with steroid-responsive anemia in infancy and subtle congenital malformations, findings consistent with recent genotype-phenotype studies of RPS DBA. However, two family members were relatively unaffected, underscoring the importance of further studies to assess modifier genes, and epigenetic and/or environmental factors which may result in normal erythropoiesis despite underlying ribosome dysfunction. This large, multigenerational family highlights the need for indivi...
Source: Frontiers in Genetics - July 18, 2022 Category: Genetics & Stem Cells Source Type: research

Janssen to Present the Strength and Promise of its Hematologic Malignancies Portfolio and Pipeline at ASH 2021
RARITAN, N.J., November 4, 2021 – The Janssen Pharmaceutical Companies of Johnson & Johnson announced today that more than 45 company-sponsored abstracts, including 11 oral presentations, plus more than 35 investigator-initiated studies will be featured at the American Society of Hematology (ASH) Annual Meeting and Exposition. ASH is taking place at the Georgia World Congress Center in Atlanta and virtually from December 11-14, 2021.“We are committed to advancing the science and treatment of hematologic malignancies and look forward to presenting the latest research from our robust portfolio and pipeline during ASH...
Source: Johnson and Johnson - November 5, 2021 Category: Pharmaceuticals Tags: Innovation Source Type: news

What Causes Facial Nerve Palsy?
Discussion Facial nerve palsy has been known for centuries, but in 1821 unilateral facial nerve paralysis was described by Sir Charles Bell. Bell’s palsy (BP) is a unilateral, acute facial paralysis that is clinically diagnosed after other etiologies have been excluded by appropriate history, physical examination and/or laboratory testing or imaging. Symptoms include abnormal movement of facial nerve. It can be associated with changes in facial sensation, hearing, taste or excessive tearing. The right and left sides are equally affected but bilateral BP is rare (0.3%). Paralysis can be complete or incomplete at prese...
Source: PediatricEducation.org - June 3, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Deadly Respiratory Distress Mimic
Conclusion It’s important for prehospital providers to be able to differentiate metabolic disturbances in the setting of respiratory distress and not be fooled into thinking tachypnea always has a respiratory cause. The physical exam and adjuncts such as end-tidal capnography can assist in the prehospital diagnosis. A COPD exacerbation generally presents as diminished lung sounds, wheezing on exhalation, and a prolonged expiratory phase. Here, a patient will attempt to compensate for the inflammation and mucus accumulation associated with the destruction and narrowing of peripheral airways and a subsequent lack of availa...
Source: JEMS Special Topics - July 17, 2018 Category: Emergency Medicine Authors: Brenton Faber, PhD, NRP Tags: Airway & Respiratory Exclusive Articles Patient Care Source Type: news

A Rare Case of Churg Strauss Syndrome Associated with Cervical Spine and Brain Involvement (P4.037)
CONCLUSIONS:This patient meets four major criteria for diagnosis of CSS ( presence of sinusitis, histologic evidence of eosinophilic vasculitis, peripheral eosinophilia and pulmonary infiltrates). CSS associated with spine vasculitis is a rare but potentially serious clinical entity that may also lead to vascular/granulomatous compressive complications leading to permanent neurological damage. This may be only the second case of spinal cord non-hemorrhagic myelitis associated with CSS.Study Supported by:Disclosure: Dr. Mittal has nothing to disclose. Dr. Acsadi has received personal compensation for activities with Talecri...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Mittal, S., Acsadi, A., Cruz, L., Aglio, T., Ek, K., Lakshminarayanan, S., Logee, K. Tags: General Neurology III Source Type: research