scholarly journals e-ENERCA: Telemedicine Platform for Rare Anaemias

2014 ◽  
Vol 4 (3) ◽  
pp. 91-91
Author(s):  
Béatrice Gulbis ◽  
María del Mar Mañú Pereira ◽  
Emilio J. Armaza Armaza ◽  
Pilar Nicolás ◽  
Keyword(s):  
Patient Care ◽  
Rare Diseases ◽  
Accurate Diagnosis ◽  
Shared Knowledge ◽  
European Network ◽  
Number Of Patients ◽  
The Creation ◽  
User Friendly ◽  
Professional Consultation

The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number of patients remain undiagnosed. Experts in rare diseases are specially needed of shared knowledge platforms offering the possibility of a faster and more accurate diagnosis and the availability of a better patients’ follow-up. The platform developed by e- ENERCA will be user friendly and intuitive so it will be used by the majority of professionals without requiring a specific formation. The idea of inter professional consultation is to bring medical experts together for collaborative involvement in activities that maximize the benefits and improvement in patient care.

Integrated Approach to Construction and Maintenance of Prosthetic Arteriovenous Access for Hemodialysis

Vascular ◽  
2004 ◽  
Vol 12 (4) ◽  
pp. 243-255 ◽  
Author(s):  
David Shemesh ◽  
Oded Olsha ◽  
Daniel Berelowitz ◽  
Ibrahim Zaghal ◽  
Charles Z. Zigelman ◽  
...  
Keyword(s):  
Surgical Techniques ◽  
Integrated Approach ◽  
Preoperative Imaging ◽  
Secondary Patency ◽  
Dialysis Access ◽  
Expanded Polytetrafluoroethylene ◽  
Number Of Patients ◽  
Arteriovenous Access ◽  
The Creation

Autogenous arteriovenous access is the preferred access for hemodialysis patients with end-stage renal disease but is not feasible in a significant number of patients. The creation of a prosthetic arteriovenous access (PAVA) for hemodialysis using expanded polytetrafluoroethylene is technically simple and the short-term results are usually good, but the PAVA's 1-year patency rate is low (less than 60% in many centers). We have developed an integrated approach for the creation and maintenance of PAVAs, under the direction of a dedicated vascular access surgeon, involving preoperative imaging, anesthetic and surgical techniques, and a postoperative graft surveillance program, to improve patency rates. The design used was a prospective nonrandomized study. Between January 1, 1999, and December 31, 2001, 158 PAVAs were created (36.8% of the 419 fistulae created during this period). High-resolution duplex ultrasonography was added to careful clinical assessment in planning and follow-up of the dialysis access. The preferred method of PAVA creation was the forearm loop using tapered 4 to 7 mm stretch expanded polytetrafluoroethylene. After surgery, patients entered a program of close follow-up and regular graft surveillance and maintenance. Prophylactic surgical revisions and endovascular interventions were performed routinely according to ultrasonography findings to prevent thrombosis. Thrombolysis and thrombectomy were performed without delay when the PAVA thrombosed, minimizing the use of central venous access and salvaging the central veins. No patients were excluded from the study. One-, 2-, and 3-year assisted primary patency rates (including patients without occlusion but who were judged to require prophylactic revision) were 65%, 54.1%, and 48.8%, respectively. With surveillance-directed surgical revisions and endovascular treatment before or after occlusion, the 1-, 2-, and 3-year secondary patency rates (functional patency) were 91.4%, 84.3%, and 78.5%. Of the 158 grafts, 110 never occluded during the study period. There were 155 interventions in 74 PAVAs: 30 surgical revisions, 63 prophylactic endovascular procedures, and 52 instances of thrombolytic therapy combined with percutaneous transluminal angioplasty. The use of prosthetic arteriovenous access for hemodialysis, when autogenous arteriovenous access is not feasible, can still be associated with excellent long-term patency, in spite of previously published poor results, as long as good planning, close follow-up, and aggressive intervention (when indicated) are carried out.

scholarly journals The Creation Of The National Registry Of Rare Diseases In The Slovak Republic

2014 ◽  
Vol 61 (1) ◽  
Author(s):  
F. Cisárik ◽  
A. Baráková
Keyword(s):  
Rare Diseases ◽  
Slovak Republic ◽  
Heart Defects ◽  
Neuromuscular Disorders ◽  
Personal Data ◽  
Mendelian Inheritance ◽  
National Registry ◽  
Number Of Patients ◽  
Health And Social Care ◽  
The Creation

AbstractThe creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic. Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.

P 956. Next-Generation Sequencing in Patient Care—Arrived or Rejected in Rare Diseases?

2018 ◽  
Author(s):  
Angela Abicht ◽  
Teresa Neuhann ◽  
Stefanie Balg ◽  
Daniela Gonzalez-Fassreiner ◽  
Verena Steinke-Lange ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Patient Care ◽  
Rare Diseases ◽  
Next Generation ◽  
Generation Sequencing

STRUCTURAL AND DYNAMIC FEATURES OF EAR-LY DISABILITY DUE TO MENTAL DISEASES

2020 ◽  
pp. 62-67
Author(s):  
Shmakova O.P.
Keyword(s):  
People With Disabilities ◽  
Child And Adolescent Psychiatry ◽  
Child Psychiatrist ◽  
Childhood And Adolescence ◽  
Disabled Children ◽  
Dynamic Features ◽  
Factors Affecting ◽  
Number Of Children ◽  
Number Of Patients

Prevention of disability is one of the most significant tasks of child and adolescent psychiatry. Obtaining data on the dynamics of the number of people with disabilities and the factors affecting this indicator seems to be one of the relevant aspects. Aim: to trace the dynamics of the number of children with disabili-ties and to assess the change in the structure of early disability over the past decades. Materials and Meth-ods. A comparative analysis of two cohorts of patients was carried out: 1st - patients born in 1990-1992. (1203 patients (men - 914, 76%; women - 289, 24%)) who applied to the district neuropsychiatric dispensa-ry for outpatient care in childhood and adolescence; II - children and adolescents born in 2005 - 2018 (602 patients (male - 410, 68%; female - 192, 32%), ob-served at the time of the study by a child psychiatrist in the neuropsychiatric dispensary. Research methods: clinical and psychopathological; follow-up; statisti-cal. Results. Comparison of the number and nosologi-cal distribution of disabled children in two cohorts showed that over the 15th year there has been a shift towards an increase in the proportion of disabled children among patients observed by child and ado-lescent psychiatrists. The increase in the number of children with disabilities was due to those suffering from childhood autism and other disorders of general development. There were no statistically significant differences in the number of people with disabilities who received benefits before the age of 7, as well as differences in gender ratios among disabled people in the two cohorts. Conclusion. Early disability is a mul-tifactorial phenomenon, prevalence, dynamics, the structure of which depends not only on clinical, but also on socio-administrative realities. Children with autism require increased attention, since there has been a multiple increase in the number of patients with this diagnosis.

An Invasive Hemolymphangioma of the Pancreas in a Young Woman

2019 ◽  
Vol 21 (10) ◽  
pp. 798-800 ◽  
Author(s):  
Zhijun Zhang ◽  
Qinghong Ke ◽  
Weiliang Xia ◽  
Xiuming Zhang ◽  
Yan Shen ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Young Woman ◽  
Benign Tumor ◽  
Abdominal Distension ◽  
Accurate Diagnosis ◽  
Cystic Tumor ◽  
Rare Benign Tumor ◽  
Radical Surgical Resection

Background: Hemolymphangioma is a rare benign tumor. To the best of our knowledge, there were only 10 reports of this tumor of the pancreas until March 2018. Case Report: Here, we reported a large invasive hemolymphangioma of the pancreas in a young woman with a complaint of abdominal distension and an epigastric mass about 3 weeks. She was found to have a huge multilocular cystic tumor at the neck and body of pancreas on computed tomography. She was eventually diagnosed with hemolymphangioma of the pancreas after operation. After 2 years of follow-up, there was no signs of recurrence. Conclusion: From our case and literature, we can conclude that hemolymphangioma of the pancreas is uncommon benign tumor, and it is hard to make an accurate diagnosis preoperatively. Radical surgical resection should be performed whenever possible. The prognosis of this disease seems good.

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

2018 ◽  
Vol 16 (05) ◽  
pp. 362-368 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Stefano Catanzaro ◽  
Selene Mantegna ◽  
Francesco Lacarrubba ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Number Of Patients ◽  
Wide Range ◽  
Visual Problems ◽  
Neurodevelopmental Abnormalities ◽  
Clinical Triad ◽  
High Degree ◽  
Motor Handicap

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

Development and Performance Assessment of a Digital Serious Game to Assess Multi-Patient Care Skills in a Simulated Pediatric Emergency Department

2020 ◽  
Vol 51 (4) ◽  
pp. 550-570
Author(s):  
Cindy Luu ◽  
Thomas B. Talbot ◽  
Cha Chi Fung ◽  
Eyal Ben-Isaac ◽  
Juan Espinoza ◽  
...  
Keyword(s):  
Emergency Department ◽  
Diagnostic Accuracy ◽  
Patient Care ◽  
Skill Acquisition ◽  
Video Game ◽  
Rank Correlation ◽  
Fixed Time ◽  
Serious Game ◽  
Cross Sectional ◽  
Number Of Patients

Objective. Multi-patient care is important among medical trainees in an emergency department (ED). While resident efficiency is a typically measured metric, multi-patient care involves both efficiency and diagnostic / treatment accuracy. Multi-patient care ability is difficult to assess, though simulation is a potential alternative. Our objective was to generate validity evidence for a serious game in assessing multi-patient care skills among a variety of learners. Methods. This was a cross-sectional validation study using a digital serious game VitalSignsTM simulating multi-patient care within a pediatric ED. Subjects completed 5 virtual “shifts,” triaging, stabilizing, and discharging or admitting patients within a fixed time period; patients arrived at cascading intervals with pre-programmed deterioration if neglected. Predictor variables included generic multi-tasking ability, video game experience, medical knowledge, and clinical efficiency with real patients. Outcome metrics in 3 domains measured diagnostic accuracy (i.e. critical orders, diagnoses), efficiency (i.e. number of patients, time-to-order) and critical thinking (number of differential diagnoses); MANOVA determined differences between novice learners and expected expert physicians. Spearman Rank correlation determined associations between levels of expertise. Results. Ninety-five subjects’ gameplays were analyzed. Diagnostic accuracy and efficiency distinguished skill level between residency trained (residents, fellows and attendings) and pre-residency trained (medical students and undergraduate) subjects, particularly for critical orders, patients seen, and correct diagnoses (p < 0.003). There were moderate to strong correlations between the game’s diagnostic accuracy and efficiency metrics compared to level of training, including patients seen (rho = 0.47, p < 0.001); critical orders (rho = 0.80, p < 0.001); time-to-order (rho = −0.24, p = 0.025); and correct diagnoses (rho = 0.69, p < 0.001). Video game experience also correlated with patients seen (rho = 0.24, p = 0.003). Conclusion. A digital serious game depicting a busy virtual ED can distinguish between expected experts in multi-patient care at the pre- vs. post-residency level. Further study can focus on whether the game appropriately assesses skill acquisition during residency.

scholarly journals Biomarkers-based personalized follow-up in chronic heart failure improves patient’s outcomes and reduces care associate cost

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Antonio Leon-Justel ◽  
Jose I. Morgado Garcia-Polavieja ◽  
Ana Isabel Alvarez-Rios ◽  
Francisco Jose Caro Fernandez ◽  
Pedro Agustin Pajaro Merino ◽  
...  
Keyword(s):  
Heart Failure ◽  
Hospital Admissions ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Secondary Outcome ◽  
Ventricular Ejection Fraction ◽  
Number Of Patients ◽  
Ed Visits ◽  
The Impact

Abstract Background Heart failure (HF) is a major and growing medical and economic problem, with high prevalence and incidence rates worldwide. Cardiac Biomarker is emerging as a novel tool for improving management of patients with HF with a reduced left ventricular ejection fraction (HFrEF). Methods This is a before and after interventional study, that assesses the impact of a personalized follow-up procedure for HF on patient’s outcomes and care associated cost, based on a clinical model of risk stratification and personalized management according to that risk. A total of 192 patients were enrolled and studied before the intervention and again after the intervention. The primary objective was the rate of readmissions, due to a HF. Secondary outcome compared the rate of ED visits and quality of life improvement assessed by the number of patients who had reduced NYHA score. A cost-analysis was also performed on these data. Results Admission rates significantly decreased by 19.8% after the intervention (from 30.2 to 10.4), the total hospital admissions were reduced by 32 (from 78 to 46) and the total length of stay was reduced by 7 days (from 15 to 9 days). The rate of ED visits was reduced by 44% (from 64 to 20). Thirty-one percent of patients had an improved functional class score after the intervention, whereas only 7.8% got worse. The overall cost saving associated with the intervention was € 72,769 per patient (from € 201,189 to € 128,420) and €139,717.65 for the whole group over 1 year. Conclusions A personalized follow-up of HF patients led to important outcome benefits and resulted in cost savings, mainly due to the reduction of patient hospitalization readmissions and a significant reduction of care-associated costs, suggesting that greater attention should be given to this high-risk cohort to minimize the risk of hospitalization readmissions.

scholarly journals 288. Follow-Up Blood Cultures in Gram-Negative Bacteremia: How Do They Impact Outcomes

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S144-S144
Author(s):  
Azza Elamin ◽  
Faisal Khan ◽  
Ali Abunayla ◽  
Rajasekhar Jagarlamudi ◽  
aditee Dash
Keyword(s):  
Clinical Outcomes ◽  
Antibiotic Treatment ◽  
Readmission Rate ◽  
Blood Cultures ◽  
Categorical Variables ◽  
Gram Negative ◽  
Number Of Patients ◽  
Significant Difference ◽  
The Impact

Abstract Background As opposed to Staphylococcus. aureus bacteremia, there are no guidelines to recommend repeating blood cultures in Gram-negative bacilli bacteremia (GNB). Several studies have questioned the utility of follow-up blood cultures (FUBCs) in GNB, but the impact of this practice on clinical outcomes is not fully understood. Our aim was to study the practice of obtaining FUBCs in GNB at our institution and to assess it’s impact on clinical outcomes. Methods We conducted a retrospective, single-center study of adult patients, ≥ 18 years of age admitted with GNB between January 2017 and December 2018. We aimed to compare clinical outcomes in those with and without FUBCs. Data collected included demographics, comorbidities, presumed source of bacteremia and need for intensive care unit (ICU) admission. Presence of fever, hypotension /shock and white blood cell (WBC) count on the day of FUBC was recorded. The primary objective was to compare 30-day mortality between the two groups. Secondary objectives were to compare differences in 30-day readmission rate, hospital length of stay (LOS) and duration of antibiotic treatment. Mean and standard deviation were used for continuous variables, frequency and proportion were used for categorical variables. P-value &lt; 0.05 was defined as statistically significant. Results 482 patients were included, and of these, 321 (67%) had FUBCs. 96% of FUBCs were negative and 2.8% had persistent bacteremia. There was no significant difference in 30-day mortality between those with and without FUBCs (2.9% and 2.7% respectively), or in 30-day readmission rate (21.4% and 23.4% respectively). In patients with FUBCs compared to those without FUBCs, hospital LOS was longer (7 days vs 5 days, P &lt; 0.001), and mean duration of antibiotic treatment was longer (14 days vs 11 days, P &lt; 0.001). A higher number of patients with FUBCs needed ICU care compared to those without FUBCs (41.4% and 25.5% respectively, P &lt; 0.001) Microbiology of index blood culture in those with and without FUBCs Outcomes in those with and without FUBCs FUBCs characteristics Conclusion Obtaining FUBCs in GNB had no impact on 30-day mortality or 30-day readmission rate. It was associated with longer LOS and antibiotic duration. Our findings suggest that FUBCs in GNB are low yield and may not be recommended in all patients. Prospective studies are needed to further examine the utility of this practice in GNB. Disclosures All Authors: No reported disclosures

The Red Legs RATED tool to improve diagnosis of lower limb cellulitis in the emergency department

2021 ◽  
Vol 30 (12) ◽  
pp. S22-S29
Author(s):  
Gillian O'Brien ◽  
Patricia White
Keyword(s):  
Emergency Department ◽  
Lower Limb ◽  
Treatment Guidelines ◽  
Positive Impact ◽  
Data Gathering ◽  
Pilot Project ◽  
Accurate Diagnosis ◽  
Evidence Based ◽  
Significant Burden ◽  
User Friendly

Background: Lower limb cellulitis poses a significant burden for the Irish healthcare system. Accurate diagnosis is difficult, with a lack of validated evidence-based tools and treatment guidelines, and difficulties distinguishing cellulitis from its imitators. It has been suggested that around 30% of suspected lower limb cellulitis is misdiagnosed. An audit of 132 patients between May 2017 and May 2018 identified a pattern of misdiagnosis in approximately 34% of this cohort. Objective: The aim of this pilot project was to develop a streamlined service for those presenting to the emergency department with red legs/suspected cellulitis, through introduction of the ‘Red Leg RATED’ tool for clinicians. Method: The tool was developed and introduced to emergency department clinicians. Individuals (n=24) presenting with suspected cellulitis over 4 weeks in 2018 were invited to participate in data gathering. Finally, clinician questionnaire feedback regarding the tool was evaluated. Results: Fourteen participants consented, 6 female and 8 male with mean age of 65 years. The tool identified 50% (n=7) as having cellulitis, of those 57% (n=4) required admission, 43% (n=3) were discharged. The remainder who did not have cellulitis (n=7) were discharged. Before introduction of the tool, all would typically have been admitted to hospital for further assessment and management of suspected lower limb cellulitis. Overall, 72% (n=10) of patients who initially presented with suspected cellulitis were discharged, suggesting positive impact of the tool. Clinician feedback suggested all were satisfied with the tool and contents. Conclusion: The Red Leg RATED tool is user friendly and impacts positively on diagnosis treatment and discharge. Further evaluation is warranted.

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