Twenty-Five Years Diagnosing Gauchers Disease in Spain, What We Have Learned?

Gaucher disease (GD), has a pan-ethnic distribution with incidence in non-Ashkenazi Jewish population about 1/70-140 thousand inhabitants. The deficiency in lysosomal acid beta-glucosidase enzyme secondary to variants in the GBA gene with autosomal recessive inheritance gives rise to a variable clinical picture. It appears at any age with symptoms that include anemia, thrombocytopenia, pain and vascular bone lesions, visceral enlargement, persistent fatigue. It was the first EDL to have enzymatic replacement and substrate reduction therapy that impact in the awareness of the disease. In 1993, the Spanish Registry of Gaucher Disease was created (REsEG), within the Spanish Foundation for the Study and Therapeutics of EG (FEETEG), with the aim of providing support to all those involved in the management of patients with EG and summarize experience at the national level. This work review the characteristics at diagnosis of type 1 adult GD (GD1) patients, diagnosed outside active early diagnosis programs, along of twenty five years of REsEG existence focus on leading diagnostic symptoms in order to answer the current challenges in patients suspicions. Aim: To analyze the evolving profile of GD1 patients diagnosed before and after 2000 based on the principal manifestations including visceral, hematological involvement, bone pain, bleeding in order to define the current suspicious characteristics in our population. Methods: Patients 18+ years old included in the REsEG were selected....
Source: Blood - Category: Hematology Authors: Tags: 201. Granulocytes, Monocytes, and Macrophages: Poster I Source Type: research

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Conclusions: Similar to previous studies, our results suggest that patients suffering from CLBP differ with regard to the magnitude of mental burden and the presence of physical impairment. These differences ascertain the need for precise targeting of treatment for CLBP. Inpatient pain centers therefore should offer different multimodal therapy pathways and integrate a meaningful triage, taking into account the multifaceted nature of CLBP based on sophisticated knowledge about forms, differences, and relationships among the biopsychosocial components of CLBP. PMID: 31728134 [PubMed - in process]
Source: GMS German Medical Science - Category: General Medicine Tags: Ger Med Sci Source Type: research
Conclusion: Chinese women had a substantially lower risk of venous thromboembolism during pregnancy and the postpartum period compared to that of Caucasians. The occurrence of pregnancy-related venous thromboembolism was largely confined to the early pregnancy period, probably related to the adoption of thromboprophylaxis, a lower rate of Cesarean section, and early mobilization. PMID: 31730677 [PubMed]
Source: Blood Research - Category: Hematology Tags: Blood Res Source Type: research
Conclusion: This post hoc analysis of a small group of Korean patients with severe HA indicated that rurioctocog alfa pegol was effective, and no serious AEs were observed. For most patients, the dosing frequency was also reduced compared with their previous regimen. PMID: 31730687 [PubMed]
Source: Blood Research - Category: Hematology Tags: Blood Res Source Type: research
Authors: Park HS, Shin KS, Son BR PMID: 31730684 [PubMed]
Source: Blood Research - Category: Hematology Tags: Blood Res Source Type: research
CONCLUSIONS: Because of its pleiotropic roles in several reproductive events and its association with some life-threatening pathological conditions of pregnancy, bikunin may represent a non-invasive marker for improving follow-up and early diagnosis. Studies showing its usefulness as a drug for reducing the risk of preterm delivery and improving neonatal outcomes have yielded interesting results that deserve to be investigated through further research. PMID: 31728877 [PubMed - as supplied by publisher]
Source: Hormones - Category: Endocrinology Tags: Hormones (Athens) Source Type: research
Alright, probably a horrible and simple question, but I want other opinions: We just took an OSCE, and I was given some interesting advice/directions. The pt had c/c of RUQ pain. Fair. Hx was no problem. Then, I got to the PE. Per our guidelines, I performed soft palpation, deep palpation, painful quadrant rebound tenderness, then for this at least, Murphy's sign. But, on soft palpation, barely touching the pt in RUQ, he flinched w/ pain. Then, I barely hooked my hand into his... Bear with me here – OCSEs
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Medical Students - MD Source Type: forums
Is a stent always the answer for people with chest pain? Maybe not. But they do need to do some work, new research finds, including sticking to medication and changing behaviors. www.nbcnews.com Study Finds Limited Benefits of Stent Use for Millions With Heart Disease Stents and coronary artery bypass surgery are no more effective than intensive drug treatment and better health habits in preventing millions of Americans from heart attacks and death, a large study fou...
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Topics in Healthcare Source Type: forums
Should PainSpecialists strive to cultivate a humble and modest professional demeanor like pediatricians or family practice docs or should we be more “in your face” specialty like plastics, deem, or spine surgery? Imagine if no one Pain dressed up in fancy suits at conference ms and drove fast, expensive cars and instead just cane “as you are” in comfortable Dad jeans and JCPenny shirts and ties? Would purposely presenting ourselves this improve the specialty’s reputation and would... Cultivating a humble and modest professional demeanor
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Publication date: Available online 15 November 2019Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Keisuke Tanaka, Leah Mayne, Akram Khalil, David Baartz, Lars Eriksson, Sally-Anne Mortlock, Grant Montgomery, Brett McKinnon, Akwasi A AmoakoAbstractEndometriosis affects a large proportion of women during their reproductive years and is associated with pain and infertility, also affecting psychological wellbeing and quality of life. The pathogenesis of the disease remains unclear, although it is believed to be multifactorial. The endocannabinoid system (ECS) consists of a number of l...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
ConclusionIn clinical routine severe complications occurred in 1%. The latter were unrelated to pectopexy, but occurred due to concomitant procedures or adhesions. The overall operating time as well as the operating time for pectopexy were similar to those reported in published studies on sacrocolpopexy.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
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