scholarly journals Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

2021 ◽  
pp. 1-21
Author(s):  
Antonio Atalaia ◽  
Rabah Ben Yaou ◽  
Karim Wahbi ◽  
Annachiara De Sandre-Giovannoli ◽  
Corinne Vigouroux ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Case Reports ◽  
Phenotypic Expression ◽  
Genetic Diagnosis ◽  
Specific Treatment ◽  
Case Series ◽  
Treatment Recommendations ◽  
Scientific Data ◽  
Bibliographic Databases ◽  
Central Registry

Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based. Objective: The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production. Methods: Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Results: From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable. Conclusions: We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect’s Genome Phenome Analysis Platform.

scholarly journals Vertical Transmission of COVID-19: A Systematic Review

2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Tahereh Fathi Najafi ◽  
Sareh Dashti ◽  
Narjes Bahri
Keyword(s):  
Vertical Transmission ◽  
Search Strategy ◽  
Retrospective Studies ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Bibliographic Databases ◽  
Pcr Analysis ◽  
Cross Sectional ◽  
Polymerase Chain

Context: Evidence regarding the vertical transmission of COVID-19 from infected pregnant women to the fetus are not sufficient. Methods: The current study intended to systematically assess the possibility of vertical transmission of COVID-19 in published literature. We systematically searched international bibliographic databases, including PubMed, SCOPUS, and Google Scholar, to identify relevant studies from the time of inception of these databases until July 2020. The search strategy was finalized based on the results of the primary search in PubMed. All observational studies, including cross-sectional, cohort, case-control, case reports, and case series, published in peer-reviewed journals in any language. Editorials, commentaries, and letters to editors were excluded. Twenty articles (6 retrospective studies, 2 prospective, one cohort, 9 case reports, and 2 case series) with a total of 145 subjects were eligible for the review. Data were collected based on the preferred reporting items for systematic reviews and meta-analysis (PRISMA) checklist. Results: Methods of assessing COVID-19 included polymerase chain reaction (PCR) analysis of naso/oropharyngeal, vaginal, rectal, urine secretions and gastric and amniotic fluid samples, and serum immunoglobulin (Ig) assays. Vertical transmission was reported in 6 neonates (< 10%), based on PCR, and three were positive based on Ig assays. Conclusions: According to the evidence, the possibility for vertical transmission of COVID-19 is rare.

Management of Gastric and Ectopic Varices: The Endoscopist's Perspective

2020 ◽  
Vol 04 (02) ◽  
pp. 110-121
Author(s):  
Zachary Henry
Keyword(s):  
Portal Hypertension ◽  
Case Reports ◽  
Rare Complication ◽  
Treatment Options ◽  
Specific Treatment ◽  
Case Series ◽  
Vascular Anatomy ◽  
Rectal Varices ◽  
Ectopic Varices ◽  
Definitive Therapy

AbstractGastric and Ectopic varices are a rare complication of portal hypertension and represent a complex, heterogeneous system of vascular shunts. Bleeding from these shunts can be severe and life-threatening, with poorly standardized treatment algorithms to follow in their management. When bleeding occurs, it is important to follow standard diagnostic procedures for portal hypertensive bleeding and always obtain imaging of the underlying vascular anatomy to help guide therapy. Potential treatment methods will depend on these imaging findings as well as the location of the varix within the gastrointestinal tract. While gastric varices have more data to support specific treatment options, duodenal and rectal varices have only case reports and case series to guide their care. In addition, stomal varices are a very rare complication of portal hypertension and have limited data to support any one treatment modality. Gastric and ectopic varices are best approached in a multidisciplinary fashion after discussion with hepatologists and interventional radiologists to overcome the uncertainty in choosing a definitive therapy.

scholarly journals Updated recommendations of the German Society for Rheumatology for the care of patients with inflammatory rheumatic diseases in times of SARS-CoV-2 – methodology, key messages and justifying information

Rheumatology ◽  
2021 ◽  
Author(s):  
Hendrik Schulze-Koops ◽  
Klaus Krüger ◽  
Bimba Franziska Hoyer ◽  
Jan Leipe ◽  
Christof Iking-Konert ◽  
...  
Keyword(s):  
Rheumatic Diseases ◽  
Case Reports ◽  
Case Series ◽  
German Society ◽  
Immunosuppressive Drugs ◽  
Scientific Data ◽  
Inflammatory Rheumatic Diseases ◽  
Evidence Based ◽  
Cross Sectional ◽  
Hygiene Measures

Summary A few days after the SARS-CoV-2 infection was declared a pandemic, the German Society for Rheumatology (DGRh) has compiled a first group of recommendations for the care of patients with inflammatory rheumatic diseases in light of SARS-CoV-2/COVID-19. These first recommendations were based on an expert consensus and were largely "non-evidence-based". Now that the first scientific data from registries, cross-sectional studies, case reports and case series are available, the DGRh developed a timely update. This update is based on a literature search of publications available up to June 15th, 2020 and addresses preventive measures (such as hygiene measures or vaccinations) and the use of immunomodulatory/immunosuppressive drugs. Driven by the commitment to let patients benefit from the new, first evidence-based recommendations as quickly as possible, the DGRh published the update in German on its homepage and in the Zeitschrift für Rheumatologie immediately after completion. Here, we report the key recommendations to make this recommendation available also for the international community, provide the scientific methodology used to develop the recommendations, give additional thoughts and advices for the management of patients with rheumatic diseases during the COVID-19 pandemic, and discuss our recommendations in the context of other international recommendations.

scholarly journals 1711. Histoplasmosis-Associated Hemophagocytic Lymphohistiocytosis: A Case Series and Review of the Literature

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S627-S628
Author(s):  
Ra’ed Jabr ◽  
Wissam El Atrouni ◽  
Heather Male ◽  
Kassem Hammoud
Keyword(s):  
Amphotericin B ◽  
Current Literature ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Medical Records ◽  
Chart Review ◽  
Case Reports ◽  
Specific Treatment ◽  
Case Series ◽  
Limited Data ◽  
Inpatient Mortality

Abstract Background Histoplasmosis is an endemic fungal disease with a spectrum of presentations from asymptomatic, mild to disseminated infections. Histoplasmosis-associated hemophagocytic lymphohistiocytosis (HLH) is a rare disorder with limited data regarding treatment and outcome. We described the clinical features, treatment, and outcomes of five patients. This review also summarized the current literature about presentation, treatment, and outcome of this infection-related HLH entity. Methods We searched the electronic medical records for patients with histoplasmosis-associated HLH at our institution from January 1, 2006 to September 30, 2017. Diagnosis of HLH was confirmed and by chart review according to HLH-04 criteria. We also searched the current literature for case reports and case series of this entity. Results We reported five cases of histoplasmosis-associated HLH during this period. All patients were diagnosed after 2010, this may be explained in part by increased awareness of this entity. The literature review yielded 60 cases of histoplasmosis-associated HLH. Among all patients (65 patients), the most common underlying condition was HIV in 61% of all patients. The majority of histoplasmosis patients were treated with amphotericin B formulation in 81%. The specific treatment for HLH was as follows: nine patients received steroids only, six patients received intravenous immunoglobulin (IVIG) only, three patients received dexamethasone and etoposide, two patients received etoposide, dexamethasone, and cyclosporine, two patients received steroids and IVIG, and one patient received Anakinra and IVIG. The inpatient mortality rate was 31% with most of the deaths occurring within 2 weeks of hospital admission. Conclusion Histoplasmosis-associated HLH among adults is an uncommon but aggressive disease with multiorgan involvement. Early antifungal therapy with a lipid formulation amphotericin B is the most important part of the management. Initial HLH-specific immunosuppressive therapy with regimens such as the HLH-94 protocol is usually individualized. Disclosures All authors: No reported disclosures.

scholarly journals Vertical Transmission of COVID-19: A Systematic Review

2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Tahereh Fathi Najafi ◽  
Sareh Dashti ◽  
Narjes Bahri
Keyword(s):  
Vertical Transmission ◽  
Search Strategy ◽  
Retrospective Studies ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Bibliographic Databases ◽  
Pcr Analysis ◽  
Cross Sectional ◽  
Polymerase Chain

Context: Evidence regarding the vertical transmission of COVID-19 from infected pregnant women to the fetus are not sufficient. Methods: The current study intended to systematically assess the possibility of vertical transmission of COVID-19 in published literature. We systematically searched international bibliographic databases, including PubMed, SCOPUS, and Google Scholar, to identify relevant studies from the time of inception of these databases until July 2020. The search strategy was finalized based on the results of the primary search in PubMed. All observational studies, including cross-sectional, cohort, case-control, case reports, and case series, published in peer-reviewed journals in any language. Editorials, commentaries, and letters to editors were excluded. Twenty articles (6 retrospective studies, 2 prospective, one cohort, 9 case reports, and 2 case series) with a total of 145 subjects were eligible for the review. Data were collected based on the preferred reporting items for systematic reviews and meta-analysis (PRISMA) checklist. Results: Methods of assessing COVID-19 included polymerase chain reaction (PCR) analysis of naso/oropharyngeal, vaginal, rectal, urine secretions and gastric and amniotic fluid samples, and serum immunoglobulin (Ig) assays. Vertical transmission was reported in 6 neonates (< 10%), based on PCR, and three were positive based on Ig assays. Conclusions: According to the evidence, the possibility for vertical transmission of COVID-19 is rare.

scholarly journals Antimicrobial agents for the treatment of enteric fever chronic carriage: A systematic review

2021 ◽  
Author(s):  
Naina McCann ◽  
Peter Scott ◽  
Christopher Parry ◽  
Michael Brown
Keyword(s):  
Systematic Review ◽  
Enteric Fever ◽  
Antimicrobial Agents ◽  
Case Reports ◽  
Controlled Trial ◽  
Meta Analysis ◽  
Treatment Options ◽  
Case Series ◽  
Bibliographic Databases ◽  
Chronic Carriage

Background Chronic carriage of S . Typhi or S. Paratyphi is an important source of enteric fever transmission. Existing guidance and treatment options for this condition are limited. This systematic review aims to assess the evidence concerning the efficacy of different antimicrobials in treating enteric fever chronic carriage. Methods We searched major bibliographic databases using relevant keywords between 1946 and September 2021. We included all interventional studies that included patients with confirmed enteric fever chronic carriage and deployed an antimicrobial that remains in clinical practice today. Case reports and case series of under 10 patients were excluded. Two reviewers screened abstracts, selected articles for final inclusion and quality-assessed the included studies for risk of bias. Extracted data was analysed, with pooling of data and eradication rates for each antimicrobial calculated. As only one randomised controlled trial was identified no meta-analysis was performed. Results Of the 593 papers identified by the initial search, a total of eight studies met the inclusion criteria and were included in the systematic review. Evidence was identified for the use of fluoroquinolones and amoxicillin/ampicillin in the treatment for enteric fever chronic carriage. Fluoroquinolones were superior to amoxicillin/ampicillin with 92% of patients eradicated after one antimicrobial course compared to 68% (p = 0.02). The quality of included studies was poor, and all were carried out before 1990. Conclusion This review identified fluoroquinolones and amoxicillin as treatment options for enteric fever chronic carriage, with fluoroquinolones the more effective option. However, this evidence pre-dates rises in antimicrobial resistance in enteric fever and therefore the significance of these findings to today’s practice is unclear. Further research is needed to investigate whether these antimicrobials remain appropriate treatment options or whether alternative interventions are more effective.

scholarly journals Determinants of in-hospital death in patients with a thrombus straddling a patent foramen ovale: protocol of a systematic review

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1437
Author(s):  
Amado Jiménez-Ruiz ◽  
Palak Shah ◽  
Andrew Gibson ◽  
Juan Camilo Vargas-González ◽  
Luciano A. Sposato
Keyword(s):  
Systematic Review ◽  
Patent Foramen Ovale ◽  
Case Reports ◽  
Specific Treatment ◽  
Case Series ◽  
Medical Emergency ◽  
Hospital Death ◽  
Foramen Ovale ◽  
Risk Of Death ◽  
Increased Risk

Background: Thrombi identified on echocardiography at the time of straddling a patent foramen ovale (PFO) constitute a medical emergency with an associated imminent risk of death.  Ischemic stroke (IS) and myocardial infarction (MI) occurring in patients with a thrombus straddling a PFO (TSPFO) may be associated with increased risk of in-hospital death. Variables associated with increased risk of death in women and men may be different. We will perform a systematic review of case reports and cases series of patients with a TSPFO to assess if IS and MI are associated with increased risk of in-hospital death and we will further stratify analyses by sex. Methods: This systematic review will include all case reports and case series of adult patients (18-year-old or older) with echocardiographic or pathological (e.g. at autopsy for older reports) evidence of a TSPFO published between inception and June 30, 2020, in any language. We will search in PubMed and Embase databases. Two reviewers will independently screen titles and abstracts, retrieve full texts, and extract the data in a predesigned form. We will apply a multivariable logistic regression analysis to estimate the association of IS and MI with in-hospital mortality. We will stratify analyses by sex.  Discussion: IS and MI in patients with TSPFO could potentially be associated with worse outcomes if they are not timely identified or left untreated.  Both acute IS and MI require specific treatment (e.g. thrombolysis, primary coronary intervention, or mechanical thrombectomy) that may be influenced by the therapy instituted for the TSPFO. Knowing the incidence of acute IS and MI among patients diagnosed with TSPFO and whether they are associated with an increased risk of death would help to improve the management of this medical emergency. Protocol registration: CRD42020216118, PROSPERO.

scholarly journals Clinical Profile of Hyper-IgE Syndrome in India

2021 ◽  
Vol 12 ◽  
Author(s):  
Biman Saikia ◽  
Amit Rawat ◽  
Ranjana W. Minz ◽  
Deepti Suri ◽  
Vignesh Pandiarajan ◽  
...  
Keyword(s):  
Rare Variant ◽  
Splice Site ◽  
Rare Variants ◽  
Bone Fractures ◽  
Case Reports ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Facial Dysmorphism ◽  
Hyper Ige Syndrome ◽  
Group I

Introduction: Hyper-IgE Syndrome (HIES) is a rare inborn error of immunity (IEI) characterized by a constellation of symptoms related to susceptibility to Staphylococcal skin and pulmonary infections, eczema, raised serum IgE (&gt;2,000 IU/ml), craniofacial anomalies, and recurrent bone fractures. Data on HIES from the Indian subcontinent is scarce and restricted to small case series and case reports. This is the first compilation of national data on HIES.Materials and Methods: A total 103 cases clinically diagnosed and treated as HIES were analyzed from nine centers. Cases with clinical and/or molecular diagnosis of DOCK8 deficiency were not included. Patients were divided into two groups: group I for whom a heterozygous rare variant of STAT3 was identified, and group II, with clinical features similar to those of AD STAT3 deficiency, but without any genetic diagnosis.Results: Genetic diagnosis was available in 27 patients (26.2%) and all harbored rare variants in the STAT3 gene. Majority of these STAT3 HIES patients presented with recurrent skin abscesses (77.7%) or pneumonia (62.9%) or both (59.2%). Other features included eczema (37%), candidiasis (55.5%), facial dysmorphism (55.5%), recurrent fractures (11.1%), and retained primary teeth (7.4%). Mycobacterial infections were seen in a significant 18.5%. Mortality was seen in three subjects (11.1%). A similar trend in the clinical presentation was observed when all the 103 patients were analyzed together. Twenty percent of patients without a rare variant in the STAT3 gene had an NIH score of ≥40, whereas, 51.9% of STAT3 HIES subjects had scores below the cut off of ≥40. TH17 cell numbers were low in 10/11 (90.9%) STAT3 HIES tested. Rare variants observed were 8 in exon 21; 8 in exon 13; 3 in exon 10; 2 in exon 15, and one each in exon 6, 16, 17, 19, 22, and splice site downstream of exon 12. Seven variants were novel and included F174S, N567D, L404Sfs*8, G419 =, M329K, T714I, R518X, and a splice site variant downstream of exon 12.Conclusions: The report includes seven novel STAT3 variants, including a rare linker domain nonsense variant and a CC domain variant. Mycobacterial diseases were more frequent, compared to western literature.

scholarly journals Assessment of the Possibility of Vertical Transmission of COVID-19: A Systematic Review and Meta-analysis Protocol

2021 ◽  
Vol 11 (2) ◽  
pp. 71-76
Author(s):  
Sareh Dashti ◽  
◽  
Tahereh Fathi Najafi ◽  
Hamid Reza Tohidinik ◽  
Narjes Bahri ◽  
...  
Keyword(s):  
Systematic Review ◽  
Vertical Transmission ◽  
Health Care Providers ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Bibliographic Databases ◽  
Care Providers ◽  
Case Control Studies ◽  
Cross Sectional

Background: The Coronavirus disease 2019 (COVID-19) outbreak has put a great burden on global health and healthcare systems. There is controversy regarding the possibility of vertical transmission of COVID-19. This proposed systematic review will be done to assess the possibility of vertical transmission of COVID-19 based on currently published literature. Methods: In this study, all published observational studies, including cross-sectional, cohort, and case-control studies, as well as case reports and case series, in peer-reviewed journals in any language until the end of July 2020 will be assessed. Editorials, commentaries, and letters to editors will be excluded from the review. Searching will be conducted using international bibliographic databases, including PubMed, Embase, and Web of Science based on Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) checklist. The search strategy will be improved and finalized based on the results of the primary search. Data extraction of the included articles will be performed by two researchers using the Zotero and review manager (revMan) software. The heterogeneity of the articles will be assessed using DerSimonian & Laird Q test and I2 statistic. The pooled estimated prevalence of vertical transmission of COVID-19 will be performed using the Metaprop command. Publication bias will be assessed using Begg’s rank correlation and the Egger weighted regression methods Results: Based on the reviewers comments the results section was deleted because this manuscript was a systematic review protocol. Conclusion: The findings of this study will help practitioners and health care providers in decision-making for the care and management of COVID-19-infected pregnant women.

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