scholarly journals Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
John Taylor ◽  
Jude Craft ◽  
Edward Blair ◽  
Sarah Wordsworth ◽  
David Beeson ◽  
...  
Keyword(s):  
Rare Disease ◽  
Exome Sequencing ◽  
Clinical Setting ◽  
Genomic Medicine ◽  
Case Series ◽  
Team Approach ◽  
Multi Disciplinary Team

scholarly journals Importance of Chemical Therapy in Relapsing Polychondritis � a Disease with Impact on the Eye Tissues

2020 ◽  
Vol 71 (8) ◽  
pp. 284-291
Author(s):  
Sanda Jurja ◽  
Mihaela Mehedinti ◽  
Rodica Sirbu ◽  
Malina Coman ◽  
Emin Cadar
Keyword(s):  
Drug Treatment ◽  
Rare Disease ◽  
Case Series ◽  
Relapsing Polychondritis ◽  
Team Approach ◽  
Specific Chemical ◽  
Treatment Pathways ◽  
True Incidence ◽  
Ocular Manifestations ◽  
Case Series Report

Relapsing polychondritis (RP), falls into the category of rare diseases. The true incidence and prevalence of this rare disease is unknown. The ocular implications in relapsing polychondritis (RP) are numerous and variable, including mainly inflammation in different structures of the eye. As a complication of this inflammatory condition, a closed secondary angle glaucoma has been described. The purpose of our work is to highlight the diversity of ocular determinations of the same rare disease, including different types of glaucoma that may occur under the same circumstances and to make a detailed analysis of chemical therapies based on drug treatment pathways. The paper includes a report of the cases series admitted to the Clinic of Ophthalmology in St. Andrew Emergency Clinical Hospital, Constanta, between 2007 and 2018, cases analyzed and compared with international literature. One of the cases is a 43-year-old male patient with bilateral open-angle bilateral glaucoma. Other cases with RP, are patients of 41 and 46 years old, respectively, presented with unilateral episcleritis. This case series report aims to show that RP can associate even more protean ocular manifestations than already discussed in the literature, with specific chemical therapies and to emphasize the need for team approach and ophthalmological monitoring in the care of RP patients with chemical therapy (drug treatment) for each patient.

Evidence-based management of epistaxis in hereditary haemorrhagic telangiectasia

2015 ◽  
Vol 129 (5) ◽  
pp. 410-415 ◽  
Author(s):  
I Syed ◽  
V S Sunkaraneni
Keyword(s):  
Assessment Tool ◽  
Case Reports ◽  
Treatment Algorithm ◽  
Case Series ◽  
Team Approach ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Questionnaire Studies ◽  
Randomised Controlled ◽  
Specific Management

AbstractBackground:There are currently no guidelines in the UK for the specific management of hereditary haemorrhagic telangiectasia related epistaxis. The authors aimed to review the literature and provide an algorithm for the management of hereditary haemorrhagic telangiectasia related epistaxis.Method:The Medline and Embase databases were interrogated on 15 November 2013 using the search items ‘hereditary haemorrhagic telangiectasia’ (title), ‘epistaxis’ (title) and ‘treatment’ (title and abstract), and limiting the search to articles published in English.Results:A total of 46 publications were identified, comprising 1 systematic review, 2 randomised, controlled trials, 27 case series, 9 case reports, 4 questionnaire studies and 3in vitrostudies.Conclusion:There is a lack of high-level evidence for the use of many of the available treatments for the specific management of epistaxis in hereditary haemorrhagic telangiectasia. Current management should be based on a multidisciplinary team approach involving both a hereditary haemorrhagic telangiectasia physician and an ENT surgeon, especially when systemic therapy is being considered. The suggested treatment algorithm considers that the severity of epistaxis merits intervention at different levels of the treatment ladder. The patient should be assessed using a reproducible validated assessment tool, for example an epistaxis severity score, to guide treatment. More research is required, particularly in the investigation of topical agents targeting the development and fragility of telangiectasiae in hereditary haemorrhagic telangiectasia.

scholarly journals Placenta Accreta Overlying a Caesarean Section Scar: A 10-Year Experience in a Tertiary-Care Centre in Portugal

2021 ◽  
Vol 34 (4) ◽  
pp. 266
Author(s):  
Margarida Cal ◽  
Carla Nunes ◽  
Nuno Clode ◽  
Diogo Ayres-de-Campos
Keyword(s):  
Cesarean Section ◽  
Placenta Accreta ◽  
Placenta Previa ◽  
Tertiary Care ◽  
Case Series ◽  
Morbidity And Mortality ◽  
Team Approach ◽  
Tertiary Center ◽  
Placenta Accreta Spectrum ◽  
Spectrum Disorders

Introduction: Placenta accreta spectrum disorders are among the leading causes of maternal morbidity and mortality and their prevalence is likely to increase in the future. The risk of placenta accreta spectrum disorders is highest in cases of placenta previa overlying a previous cesarean section scar. Few studies have evaluated placenta accreta spectrum disorders in Portugal. The aim of this study was to review the cases of placenta accreta spectrum overlying a cesarean section scar managed in a Portuguese tertiary center over the last decade.Material and Methods: Retrospective, cross-sectional study, with data collected from hospital databases. Only cases with histopathological confirmation of placenta accreta spectrum were included.Results: During the study period, 15 cases of placenta accreta spectrum overlying a cesarean section scar were diagnosed (prevalence 0.6/1000). All cases were diagnosed antenatally. A transverse cesarean section was present in all cases; 13 were managed by a scheduled multidisciplinary approach, while two required emergent management. Total or subtotal hysterectomy was performed in 12 cases. There were no cases of maternal or neonatal death. Histopathological evaluation confirmed nine cases of placenta accreta, three cases of placenta increta and three cases of placenta percreta.Discussion: Early antenatal diagnosis is important for a programmed multidisciplinary management of these cases, which may reduce potential morbidity and mortality and ensure better obstetric outcomes.Conclusion: This case series of placenta accreta spectrum overlying a cesarean section scar reports the reality of a tertiary-care perinatal center in Portugal, in which no maternal or neonatal mortality due to placenta accreta spectrum was registered over the last decade; this may be attributed to prenatal diagnosis and a coordinated multidisciplinary team approach.

scholarly journals Multi-Disciplinary Team Approach to Cardiogenic Shock Reduces in-Hospital Mortality

2016 ◽  
Vol 22 (8) ◽  
pp. S16 ◽  
Author(s):  
Azam Hadi ◽  
Sanjeeb Bhattacharya ◽  
Irmina Gradus-Pizlo ◽  
Holly Cook
Keyword(s):  
Hospital Mortality ◽  
Cardiogenic Shock ◽  
Team Approach ◽  
Multi Disciplinary Team

scholarly journals V.I.T.A.M. in COVID 19: A Systematic Approach to a Global Pandemic

2021 ◽  
Vol 15 ◽  
pp. 117954842110474
Author(s):  
Siva Naga S. Yarrarapu ◽  
Pankaj Bansal ◽  
David Abia-Trujillo ◽  
Austin Cusick ◽  
Megan Melody ◽  
...  
Keyword(s):  
Primary Objective ◽  
Team Approach ◽  
Evidence Based ◽  
Treatment Protocols ◽  
Ongoing Research ◽  
Treatment Algorithms ◽  
Global Pandemic ◽  
Treatment Review ◽  
Infectious Disease Specialists ◽  
Multi Disciplinary Team

Introduction In the unprecedented era of COVID-19, ongoing research and evolution of evidence has led to ever-changing guidelines for clinical monitoring and therapeutic options. Formulating treatment protocols requires the understanding and application of the evolving research. Objective The primary objective of this study is to present a systematic evidence-based approach to synthesize the necessary data in order to optimize the management of COVID-19. Methods At Mayo Clinic Florida, we developed a multidisciplinary centralized COVID Treatment Review Panel (TRP) of expert pulmonologists, intensivists, infectious disease specialists, anesthesiologists, hematologists, rheumatologists, and hospitalists that in real-time reviews the latest evidence in peer-reviewed journals, the available clinical trials, and help guide the rapid application of therapeutics or interventions to the patient and the bedside provider. Results/Conclusions The multi-disciplinary team approach of synthesizing clinical data and coordinating care is effective in responding to rapidly evolving and changing evidence. Systematic data collection and evidence-based treatment algorithms enable physicians to rapidly translate the current literature to clinical practice, and improve care and outcomes of patients.

scholarly journals Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Elias L. Salfati ◽  
Emily G. Spencer ◽  
Sarah E. Topol ◽  
Evan D. Muse ◽  
Manuel Rueda ◽  
...  
Keyword(s):  
Sudden Death ◽  
Rare Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
Molecular Diagnostic ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Pathogenic Variants ◽  
Whole Exome

Abstract Background Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis. Methods Of the 101 WES cases, 51 were rare idiopathic disease cases and 50 were postmortem “molecular autopsy” cases of early sudden unexplained death. Variants considered for reporting were prioritized and classified into three groups: (1) diagnostic variants, pathogenic and likely pathogenic variants in genes known to cause the phenotype of interest; (2) possibly diagnostic variants, possibly pathogenic variants in genes known to cause the phenotype of interest or pathogenic variants in genes possibly causing the phenotype of interest; and (3) variants of uncertain diagnostic significance, potentially deleterious variants in genes possibly causing the phenotype of interest. Results Initial analysis revealed diagnostic variants in 13 rare disease cases (25.4%) and 5 sudden death cases (10%). Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained death case (2%), which increased our molecular diagnostic yield to 31.4% and 12%, respectively. Conclusions The basis of new findings ranged from improvement in variant classification tools, updated genetic databases, and updated clinical phenotypes. Our findings highlight the potential for re-analysis to reveal diagnostic variants in cases that remain undiagnosed after initial WES.

scholarly journals Pulmonary benign metastasizing leiomyomas: a case series of 23 patients at a single facility

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Rong Fan ◽  
Fengzhi Feng ◽  
Hua Yang ◽  
Kaifeng Xu ◽  
Shanqing Li ◽  
...  
Keyword(s):  
Rare Disease ◽  
Single Case ◽  
Case Series ◽  
Progesterone Receptors ◽  
Complete Response ◽  
Gynecologic Surgery ◽  
Curative Surgery ◽  
College Hospital ◽  
First Choice ◽  
S 100

Abstract Background Pulmonary benign metastasizing leiomyoma (PBML) is a rare disease characterized by leiomyoma of benign histopathology existing in the lungs. Because of its rarity, limited literature with a single case or small number of cases has been regarding to the clinical course, pathology or management of PBML. Methods A retrospective study was performed of all PBML cases diagnosed and managed at Peking Union Medical College Hospital (PUMCH) from 2001 to 2019. The clinical characteristics, pathology, treatment and outcomes of each case were studied. Results There were 25 PBML patients identified in the 19-year period in PUMCH, and 23 patients’ data was analyzed. The median age at diagnosis was 46 years. There were 7 patients (30.4%) diagnosed with postmenopausal status. Two patients (8.7%) had no uterine leiomyoma, and 3 patients (13.0%) had no gynecologic surgery history. Immunohistochemistry of most lesions demonstrated positive for desmin, SMA and Estrogen/Progesterone Receptors; and negative for S-100 were shown in 7 cases. After curative or diagnostic surgeries for the PBML, several treatments from observation to medical or surgical castration were performed. Nine premenopausal patients preserved their ovaries at first. At a median follow-up of 8 years, 3 patients finally had oophorectomy. Conclusions PBML is a rare disease and should be treated by individualization according to the patients’ age, symptoms and extent of lesion. Curative surgery for patients with limited lesions can achieve the complete response. For patients that are young and asymptomatic, close observation is recommended as the first choice. All patients should undergo long-term surveillance.

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