Collodion baby with thrombocytopenia: A rare presentation of type 2 Gaucher disease

A 1-day-old girl born with a thin collodion membrane was found to have severe thrombocytopenia of 34,000 per microliter. The rare report of the perinatal-lethal subtype of Gaucher disease presenting as a collodion baby represented an explanation for both signs and we recommended early genetics investigation. In the ensuing week, NICU evaluation revealed fevers, bradycardia, hypotonia; labs showed transaminitis, hypoglycemia requiring a continuous glucose infusion; ultrasound discovered hepatosplenomegaly, mild ascites, echogenic kidneys, scoliosis, an atrial septal defect and dilated right ventricle.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research

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Conclusion: Ambulatory renal and cardio-vascular follow-up in case of neonatal medical history can be enhanced, with necessity to raise awareness and to edict guidelines available to pediatricians.What is Known:•There is a compelling evidence of long-term renal and cardiovascular consequences of prematurity and low birth weight.•Specific cardiovascular and renal follow-up guidelines, coming from professional organizations, are currently not available for these patients.What is New:•Pediatricians in ambulatory setting do not adapt their renal and cardiovascular follow-up in case of neonatal medical history.&b...
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
CONCLUSION: The ultrasonography measure of right liver lobe diameter by itself can reliably identify patients with NAFLD with a good sensitivity and specificity, however, this can be improved by adding the LAP mathematical index in our population. PMID: 33031969 [PubMed - as supplied by publisher]
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
Publication date: Available online 10 October 2020Source: Brazilian Journal of Anesthesiology (English Edition)Author(s): Mateus Meira Vasconcelos, João Paulo Jordão Pontes, Alexandre de Menezes Rodrigues, Demócrito Ribeiro de Brito Neto, Rodrigo Rodrigues Alves, Fernando Cássio do Prado Silva, Denis Fabiano de Souza
Source: Brazilian Journal of Anesthesiology - Category: Anesthesiology Source Type: research
This study was designed to examine the effect of TEAS for pain relief in women undergoing transvaginal ultrasound-guided oocyte aspiration. This single-blinded, multicenter, randomized controlled trial was performed in China between May 2013 and May 2015. The subjects were randomized to mock TEAS and TEAS. TEAS or mock TEAS was administered 30 min before oocyte retrieval until the end of the operation. The primary and secondary endpoints were the pain measured using the visual analog scale (VAS) within 1 min and 1 hour after oocyte retrieval, respectively. Serum β-endorphin levels were tested in the firs...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
 This is another great e-book on breast sonography in e-book format.Covers all major aspects of sonography of breast pathology in an Atlas format.Includes benign and malignant breast masses among others. Download from Amazon's secure site and view in your amazon Kindle app on iphone, android mobile or tab, as well as Kindle reader.https://www.amazon.com/dp/B08HDG9JRL
Source: cochinblogs - Category: Radiology Source Type: blogs
Publication date: Available online 8 October 2020Source: Chemical Engineering Research and DesignAuthor(s): Alice Bouchez, Peggy Vauchel, Leandro Galvan D’Alessandro, Krasimir Dimitrov
Source: Chemical Engineering Research and Design - Category: Chemistry Source Type: research
Publication date: Available online 8 October 2020Source: European Journal of RadiologyAuthor(s): Pei Li Fan, Hong Ding, Feng Mao, Ling Li Chen, Yi Dong, Wen Ping Wang
Source: European Journal of Radiology - Category: Radiology Source Type: research
Publication date: Available online 8 October 2020Source: European Journal of RadiologyAuthor(s): Davide Colombi, Marcello Petrini, Gabriele Maffi, Gabriele D. Villani, Flavio C. Bodini, Nicola Morelli, Gianluca Milanese, Mario Silva, Nicola Sverzellati, Emanuele Michieletti
Source: European Journal of Radiology - Category: Radiology Source Type: research
Conclusions: Five years following “graduation” from growing surgery for early onset scoliosis, there is progression of curve magnitude in both the coronal and sagittal planes up to 2 years, with no further progression at 5 years. A total of 21% of patients undergo at least 1 revision surgery, and average time to revision surgery is over 2 years from last planned surgery. Risk of revision surgery was higher in patients who underwent a spinal fusion as their definitive treatment strategy. Level Evidence: Level III—retrospective comparative. Type of Evidence: Therapeutic.
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Scioliosis/Kyphosis Source Type: research
Background: Early definitive spinal fusion (EF) has been widely recommended to avoid spinal deformity progression for early-onset scoliosis (EOS) with neurofibromatosis type 1 (NF-1). In contrast, growing rod (GR) procedure has recently been recommended for EOS associated with the dystrophic type NF-1. However, no studies have compared the surgical outcomes between EF and GR procedure for EOS with NF-1. The purpose of this study was to compare the surgical outcomes of EF versus GR for early onset and dystrophic scoliosis with NF-1. Methods: This was a retrospective multicenter study; 26 EOS patients with dystrophic ty...
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Scioliosis/Kyphosis Source Type: research
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