scholarly journals Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Olivier Dupuis ◽  
Laura Delagrange ◽  
Sophie Dupuis-Girod
Keyword(s):  
Heart Failure ◽  
Literature Review ◽  
Arteriovenous Malformations ◽  
Case Reports ◽  
Case Series ◽  
Main Body ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Review Of The Literature ◽  
Management Decisions ◽  
Recurrent Epistaxis

Abstract Background Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and central nervous system. The aim here was to carry out a review of the literature on HHT complications during pregnancy in order to guide management decisions. Main body A literature review was carried out to analyse all publications on complications that occurred during pregnancy in women with HHT. The PubMed/Medline and Scopus databases were searched. The complications observed in HHT women during pregnancy were then described. The authors identified 5 case series and 31 case reports that describe the evolution of 1577 pregnancies in 630 women with HHT. The overall maternal death rate described in the case series was estimated at 1.0% of pregnancies in the case series and 2 maternal deaths occurred in 31 pregnancy case reports. Severe maternal complications occurred in 2.7 to 6.8% of pregnancies in the case series. Severe complications occurred mostly in the second and third trimester in non-diagnosed and non-screened HHT patients. Severe complications were related to visceral involvement. The most frequent complications were related to pulmonary arteriovenous malformations (PAVMs) (haemothorax (n = 10), haemoptysis (n = 4), and severe hypoxaemia (n = 3)). Neurological complications were related to PAVMs in one case (right to left shunt) and to cerebral arteriovenous malformations (CAVM) and intracranial haemorrhage in 2 cases. Complications were related to hepatic arteriovenous malformations (HAVMs) in 8 cases (acutely decompensated heart failure due to hepatic involvement (n = 1), dyspnoea related to heart failure (n = 5), and hepatobiliary necrosis (n = 2)). Conclusion Based on the literature review, most pregnancies in HHT women occur normally. However, these pregnancies should be considered high-risk, given the potential life-threatening events related to AVM rupture. Furthermore, there is currently no international consensus regarding the medical follow-up of pregnancy in women with HHT and the aim here was to carry out a review of the literature in order to guide screening and management decisions for this rare disease.

Analysis of Clinical, Imaging, and Pathologic Features of 36 Patients with Primary Intraspinal Primitive Neuroectodermal Tumors: A Case Series and Literature Review

2021 ◽  
Author(s):  
Xuefeng Wei ◽  
Xu Zhang ◽  
Zimu Song ◽  
Feng Wang
Keyword(s):  
Literature Review ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Subtotal Resection ◽  
Study Cohort ◽  
Primitive Neuroectodermal Tumors ◽  
Pathologic Features ◽  
Neuroectodermal Tumors ◽  
The Mean

Abstract Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

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.

Management of Refractory Intracranial Hypotension Using Percutaneous Fibrin Sealant Patch – A Case Series and Review of the Literature

2019 ◽  
pp. 13-31
Author(s):  
Kevin Wong
Keyword(s):  
Literature Review ◽  
Fibrin Sealant ◽  
Intracranial Hypotension ◽  
Case Reports ◽  
Case Series ◽  
Retrospective Case ◽  
Percutaneous Injection ◽  
Retrospective Case Series ◽  
Blood Patch

Background: Intracranial hypotension (IH) among patients with persistent cerebrospinal fluid (CSF) leakage remains a challenging problem. The majority of these cases resolve spontaneously with conservative measures. The customary treatment for IH is epidural blood patch (EBP). In some cases, CSF leaks can persist for months or even years despite multiple trials of EBP. To date, there are only a limited number of published studies documenting the percutaneous injection of fibrin sealant for treatment of IH refractory to conservative measures and EBP. Objective: Our objective was to perform a literature review and retrospective case series regarding patients who underwent percutaneous injection of fibrin sealant for treatment of refractory IH at our institution. Study Design: This case series used a singlecentered retrospective observational study design and literature review. Setting: Patients in this case series were treated at a community-based tertiary care medical center. Methods: Five consecutive patients with the diagnosis of IH refractory to conservative measures and EBP who underwent percutaneous patching with fibrin sealant were identified at our institution between January 1, 2000 and January 1, 2016. A retrospective chart review was performed and data including demographics, characteristics, interventions, clinical outcomes, and complications were collected. A critical review of the current literature regarding the percutaneous use of fibrin sealant for treatment of IH was conducted. Results: Four of the 5 patients (80%) experienced no further symptoms of IH and no adverse events were noted. One patient (20%) ultimately required surgical duroplasty. Review of the current literature showed a total of 2 prospective case series, 4 retrospective case series, and 11 case reports. Our present case series and literature review demonstrated that fibrin sealants were well-tolerated by most patients and associated with low incidences of complications and recurrence. Limitations: This study is limited by the small retrospective case series of 5 patients. Conclusions: Percutaneous injection of fibrin sealant may be considered in refractory cases of IH when repeated trials of EBP have persistently failed. It appears to be a highly effective, safe, and easy-touse alternative therapy for patients with refractory IH in an ambulatory setting. Our review of the literature revealed only studies with low quality of evidence, including case series and case reports. There is a substantial need for high-quality studies and clinical evidence to corroborate the efficacy and safety of this percutaneous technique. However, this ideal is very challenging because of the relative rarity and heterogeneous etiologies of cases. Keywords: Fibrin sealant, intracranial hypotension, CSF leak, epidural blood patch, orthostatic headache, refractory, quality of life, percutaneous

Conservative Management in Two Penetrating Fishbone Injuries: A Case Series and Literature Review

2021 ◽  
Keyword(s):  
Foreign Body ◽  
Literature Review ◽  
Conservative Management ◽  
Case Reports ◽  
Case Series ◽  
Foreign Body Ingestion ◽  
Medical Referral

Foreign body ingestion is a regular medical referral. Patients present with different objects such as chicken bones, nails, coins, and fishbones. It is usually managed in causality and passes without any intervention. However, occasionally, we come across fishbone complications requiring intervention. We discuss the course and management of two case reports of fishbone injuries in different abdominal regions.

scholarly journals Cerebral Vein Thrombosis in the Antiphospholipid Syndrome: Analysis of a Series of 27 Patients and Review of the Literature

2021 ◽  
Vol 11 (12) ◽  
pp. 1641
Author(s):  
Alba Jerez-Lienas ◽  
Alexis Mathian ◽  
Jenifer Aboab ◽  
Isabelle Crassard ◽  
Miguel Hie ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Medical Records ◽  
Case Reports ◽  
Case Series ◽  
Autoimmune Disorder ◽  
Point Of View ◽  
Cerebral Vein ◽  
Review Of The Literature ◽  
Cerebral Vein Thrombosis ◽  
Vein Thrombosis

(1) Background: The Antiphospholipid Syndrome (APS) is a systemic autoimmune disorder characterized by arterial and/or venous thrombosis, pregnancy morbidity and raised titers of antiphospholipid antibodies. Cerebral vein thrombosis (CVT) is a rare form of cerebrovascular accident and an uncommon APS manifestation; the information in the literature about this feature consists of case reports and small case series. Our purpose is to describe the particular characteristics of CVT when occurs as part of the APS and compare our series with the patients published in the literature. (2) Methods: We conducted a retrospective observational study collecting data from medical records in three referral centers for APS and CVT, and a systematic review of the literature for CVT cases in APS patients. (3) Results: Twenty-seven APS patients with CVT were identified in our medical records, the majority of them diagnosed as primary APS and with the CVT being the first manifestation of the disease; additional risk factors for thrombosis were identified. The review of the literature yielded 86 cases, with similar characteristics as those of our retrospective series. (4) Conclusions: To our knowledge, our study is the largest CVT series in APS patients published to date, providing a unique point of view in this rare thrombotic manifestation.

scholarly journals Endoscopic resection of asymptomatic, colonic, polypoid arteriovenous malformations: Two case reports and a literature review

2017 ◽  
Vol 23 (1) ◽  
pp. 67 ◽  
Author(s):  
Young-Seok Cho ◽  
Han-Hee Lee ◽  
Hyuk-Min Kwon ◽  
Sanghyun Gil ◽  
Young-Shin Kim ◽  
...  
Keyword(s):  
Literature Review ◽  
Endoscopic Resection ◽  
Arteriovenous Malformations ◽  
Case Reports

Z-drugs and Falls: A Focused Review of the Literature

2020 ◽  
Vol 35 (12) ◽  
pp. 549-554
Author(s):  
Nicole Ryba ◽  
Rebecca Rainess
Keyword(s):  
Primary Outcome ◽  
Case Reports ◽  
Inappropriate Medication ◽  
Case Series ◽  
Cochrane Library ◽  
Inpatient Setting ◽  
Care Hospital ◽  
Review Of The Literature ◽  
Increased Risk ◽  
Risk Of Falls

OBJECTIVE: To provide a focused review of the literature related to the association between exposure to Z-drugs and the risk of falls, especially in the older population.<br/> DATA SOURCES: A literature search was conducted using Medline, PsychInfo, and the Cochrane Library database for all clinical trials, case series, and case reports published in English up to May 2020. The search terms used consisted of each Z-drug, including "zolpidem," "zopiclone," "eszopiclone," and "zaleplon," matched with "falls."<br/> STUDY SELECTION: The search yielded 295 studies. After review of abstracts, content and references were reviewed, and duplicates removed, a total of 9 articles met inclusion of exposure to at least 1 Z-drug and a primary outcome of falls.<br/> DATA EXTRACTION: The American Geriatrics Society 2019 Beers Criteria Update for Potentially Inappropriate Medication Use in Older Adults recommends to avoid using nonbenzodiazepine hypnotics in this patient population because of the risk of adverse events.<br/> DATA SYNTHESIS: A majority of the literature suggests an increased risk of falls with exposure to Z-drug use, especially zolpidem. Eight trials examined falls as a primary outcome in non-elderly (n=3) and elderly (n=5) patients in different settings, mostly in an inpatient setting (nursing facility or acute care hospital).<br/> CONCLUSION: Exposure to Z-drugs, especially zolpidem, should be evaluated and counseled on continuously as these medications put patients at an increased risk for falls and other complications.

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