scholarly journals Life-threatening anaemia in patient with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 134-138
Author(s):  
Melania Mikołajczyk-Solińska ◽  
Karolina Leończyk ◽  
Aleksandra Brzezina ◽  
Sylwia Rossa ◽  
Jacek Kasznicki
Keyword(s):  
Wide Spectrum ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Ongoing Research ◽  
Clinical Criteria ◽  
Weber Syndrome ◽  
Life Threatening ◽  
Clinically Significant

AbstractHereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations from epistaxis to clinically significant arteriovenous malformations (AVM) in the lungs, liver, brain and spine. The diagnosis of HHT is based on clinical criteria. There is a long diagnostic delay of nearly 3 decades since disease onset. The treatment is based on various types of haemostasis. There is ongoing research with potential therapies which may prevent and decrease the severity of epistaxis. Thalidomide may be an effective treatment to decrease the bleeding symptoms of patients with HHT.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

Parvovirus Infection in a Child Presenting with Erythema Multiforme and Vasculitis after a Yellow Jacket Bee Sting

2020 ◽  
Author(s):  
Ceren Can ◽  
Mehtap Yazicioglu ◽  
Selman Gokalp ◽  
Nese Ozkayin
Keyword(s):  
Erythema Multiforme ◽  
Wide Spectrum ◽  
Parvovirus B19 ◽  
Clinical Manifestations ◽  
Yellow Jacket ◽  
Systemic Reactions ◽  
Bee Sting ◽  
Life Threatening ◽  
Insect Stings ◽  
Parvovirus B 19

Abstract Parvovirus B19 has a wide spectrum of clinical manifestations. Erythema multiforme and vasculitis are rarely reported with parvovirus B19 infections. Reactions to insect stings can range from local swelling to life-threatening systemic reactions. There have been rare reports of unusual reactions, such as vasculitis, occurring in a temporal relationship with insect stings. We report an 8-year-old patient having Parvovirus B-19-related erythema multiforme and vasculitis after a yellow jacket bee sting.

scholarly journals Superior sagittal sinus thrombosis in a case of beta thalassaemia major

2017 ◽  
Vol 4 (2) ◽  
pp. 585
Author(s):  
Syed Md Azad ◽  
Anwesha Mukherjee ◽  
Rohit Kapoor ◽  
Rohit Bannerji ◽  
Jaydeb Ray
Keyword(s):  
Clinical Symptoms ◽  
Sinus Thrombosis ◽  
Incidental Finding ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Thalassaemia Major ◽  
Beta Thalassaemia ◽  
Sagittal Sinus ◽  
Life Threatening ◽  
Transfusion Dependency

Patients with beta- thalassaemia major have a wide spectrum of clinical manifestations, from transfusion dependency to asymptomatic anaemia. Some may just have incidental finding of anaemia with splenomegaly during physical examination. Most of them require regular blood transfusion and their haemoglobin is maintained at an acceptable level. However they are at risk for multiple complications such as thrombo-embolic events which may be life threatening. We report here a case of beta- thalassaemia major complicated by cerebral sinus thrombosis, who had minimal clinical symptoms and signs at presentation. This case reiterates the importance of increased vigilance in the clinical management of this vulnerable group of patients. 

scholarly journals An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

2022 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Martina Formisano ◽  
Carla Marani ◽  
Siavash Rahimi
Keyword(s):  
Fluorescein Angiography ◽  
Near Infrared ◽  
Transforming Growth Factor ◽  
Clinical Manifestations ◽  
Wide Field ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Near Infrared Reflectance ◽  
Early Management ◽  
Recurrent Epistaxis ◽  
Weber Syndrome

AbstractHereditary haemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber syndrome is a rare autosomal dominant disease, characterised by systemic angiodysplasia. Dysfunction of the signalling pathway of β transforming growth factor is the main cause of HHT principally owing to mutations of the genes encoding for endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1). Clinical manifestations can range from mucocutaneous telangiectasia to organ arterio-venous malformations and recurrent epistaxis. The early clinical manifestations may sometimes be subtle, and diagnosis may be delayed. The main ophthalmic manifestations historically reported in HHT are haemorrhagic epiphora, and conjunctival telangiectasia present in 45–65% of cases, however, imaging with wide-field fluorescein angiography has recently shown peripheral retinal telangiectasia in 83% of patients. Optimal management of HHT requires both understanding of the clinical presentations and detection of early signs of disease. Advances in imaging methods in ophthalmology such as wide-field fluorescein angiography, spectral domain optical coherence tomography, and near infrared reflectance promise further insight into the ophthalmic signs of HHT towards improved diagnosis and early management of possible severe complications.

scholarly journals Respiratory Manifestations in Systemic Lupus Erythematosus

2021 ◽  
Vol 14 (3) ◽  
pp. 276
Author(s):  
Salvatore Di Bartolomeo ◽  
Alessia Alunno ◽  
Francesco Carubbi
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Specific Pattern ◽  
Systemic Autoimmune Disease ◽  
Therapeutic Approaches ◽  
Systemic Lupus ◽  
Respiratory Involvement ◽  
Life Threatening

Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease characterized by a wide spectrum of clinical manifestations. The respiratory system can be involved in up to 50–70% of patients and be the presenting manifestation of the disease in 4–5% of cases. Every part of the respiratory part can be involved, and the severity can vary from mild self-limiting to life threatening forms. Respiratory involvement can be primary (caused by SLE itself) or secondary (e.g., infections or drug toxicity), acute or chronic. The course, treatment and prognosis vary greatly depending on the specific pattern of the disease. This review article aims at providing an overview of respiratory manifestations in SLE along with an update about therapeutic approaches including novel biologic therapies.

scholarly journals Sturge Weber Syndrome – Roach’s Type II Variant

2020 ◽  
Vol 18 (1) ◽  
pp. 76-79
Author(s):  
Muna Bista ◽  
Sudha Agrawal ◽  
Sweta Taparia
Keyword(s):  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Corneal Edema ◽  
Congenital Glaucoma ◽  
Type Ii ◽  
Ophthalmic Manifestations ◽  
Wide Range ◽  
Weber Syndrome ◽  
History Of ◽  
Sturge Weber Syndrome

Sturge-Weber syndrome (SWS) is a neurocutaneous sporadic disorder caused by mutation in GNAQ gene responsible for persistence of vascular plexus around cephalic portion of neural tube. It has a wide spectrum of cutaneous, neurologic and ophthalmic manifestations, which may or may not be associated with one another. Roach scale has classified it into three types. Here, we present a case of Roach’s Type II variant of SWS with Port-wine stain (PWS) and ocular abnormalities without Central Nervous System (CNS) involvement. A 24 months old female presented with hemangioma involving the left side of face since birth. She had history of corneal edema and buphthalmos at two days of life. There was no history of seizure or developmental delay and Magnetic Resonance Imaging (MRI) of the head ruled out cranial hemangioma. Roach’s Type II is a rare variant of SWS and should be suspected in any case having PWS along the course of trigeminal nerve with congenital glaucoma because the neurologic involvement in a given case may vary from an absence to overt clinical manifestations with or without radiological changes. Due to its wide range of manifestations, a multidisciplinary approach is required for proper management of these patients.

scholarly journals Autoimmune polyglandular syndrome type I. Features of clinical manifestations, difficulties in diagnosis and methods of correction

2021 ◽  
Vol 12 (4) ◽  
pp. 67-73
Author(s):  
G. A. Galkina ◽  
L. S. Mikhailichenko ◽  
D. I. Sozaeva ◽  
S. B. Berezhanskaya ◽  
A. A. Afonin
Keyword(s):  
Autosomal Recessive ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Diagnostic Algorithm ◽  
Autosomal Recessive Inheritance ◽  
Type I ◽  
Autoimmune Polyglandular Syndrome ◽  
Life Threatening ◽  
Autoimmune Polyglandular Syndrome Type ◽  
The Moment

Autoimmune polyglandular syndrome (APG) type I is an orphan disease with autosomal recessive inheritance caused by mutations in the autoimmune regulator gene (AIRE); the disease onset typically occurs in childhood. The disease is characterized by a wide variety of clinical manifestations with a certain stage in the manifestation of individual symptoms. The rare occurrence of this pathology determines its late diagnosis, which can lead to the decompensated life-threatening conditions and an unfavorable outcome. Widely informing pediatric specialists will contribute to the development of a diagnostic algorithm for timely verifying the disease from the moment its first clinical manifestations appear, and will improve the quality and life expectancy of the patients. 

scholarly journals AB1047 IgG4-RELATED DISEASE PRESENTATION REQUIRES ADMISSION TO THE EMERGENCY DEPARTMENT IN THE MAJORITY OF CASES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1814.1-1815
Author(s):  
G. Mancuso ◽  
E. Della Torre ◽  
M. Lanzillotta ◽  
G. A. Ramirez ◽  
L. Dagna
Keyword(s):  
Emergency Department ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Clinical Manifestations ◽  
General View ◽  
Related Disease ◽  
Acute Presentation ◽  
Igg4 Related Disease ◽  
Group 2 ◽  
Group 1

Background:IgG4-related disease (IgG4-RD) is generally considered a chronic fibro-inflammatory condition with insidious presentation and subclinical course. Our clinical experience, however, suggests that a sizable proportion of patients experience multiple accesses to the emergency department (ED), either at disease onset or during the disease course.Objectives:In the present study we aimed (i) to assess the prevalence of acute manifestations of IgG4-RD at disease onset requiring referral to the ED, and (ii) to calculate the diagnostic delay from the initial acute presentation.Methods:We revised our database and identified patients admitted to the ED because of symptoms lately attributed to IgG4-RD onset (Group 1) and those that were referred to our outpatient clinic without previous urgent manifestations (Group 2). Acute manifestations were clustered based on the anatomical district affected by IgG4-RD. Epidemiological, clinical, and serological features of Group 1 and Group 2 were compared.Results:The study included 141 patients with IgG4-RD. 76 (54%) presented to the ED at disease onset. The most common clinical manifestations requiring admission to the ED were jaundice (53%), abdominal pain (41%), and fever (10%). Gastrointestinal involvement was the most frequent cause of referral to the ED (71% of cases), followed by involvement of the retroperitoneum (14.5%), and of the nervous system (6.6%). Pancreato-biliary involvement was significantly more frequent in Group 1. Head, neck, salivary and lacrimal gland involvement was more frequent in Group 2. The diagnostic delay was significantly shorter in Group 1 than in Group 2.Conclusion:Clinical manifestations associated with IgG4-RD onset require referral to the ED in the majority of cases. This finding contrasts with the general view of IgG4-RD as a condition with non-acute presentation.References:[1]Bledsoe JR, Della-Torre E, Rovati L, Deshpande V. IgG4-related disease: review of the histopathologic features, differential diagnosis, and therapeutic approach. APMIS. 2018;126:459-476.[2] Della-Torre E, Lanzillotta M, Doglioni C. Immunology of IgG4-related disease. Clin Exp Immunol.2015;181:191-206.[3]Lanzillotta M, Campochiaro C, Trimarchi M, Arrigoni G, Gerevini S, Milani R, et al. Deconstructing IgG4-related disease involvement of midline structures: Comparison to common mimickers. Mod Rheumatol. 2017;27:638-645.[5]Della-Torre E, Stone JH. “How I manage” IgG4-Related Disease. J Clin Immunol. 2016;36:754-763.[6]Perugino CA, Mattoo H, Mahajan VS, Maehara T, Wallace ZS, Pillai S, et al. Emerging Treatment Models in Rheumatology: IgG4-Related Disease: Insights Into Human Immunology and Targeted Therapies. Arthritis Rheumatol. 2017;69:1722-1732.[7]Stone JH, Zen Y, Deshpande V. IgG4-related disease. N Engl J Med. 2012;366:539-51.[8]Kamisawa T, Zen Y, Pillai S, Stone JH. IgG4-related disease. Lancet. 2015;385:1460-71[9]Umehara H, Okazaki K, Masaki Y, Kawano M, Yamamoto M, Saeki T, et al. Comprehensive diagnostic criteria for IgG4-related disease (IgG4-RD), 2011. Mod Rheumatol. 2012;22:21-30.Disclosure of Interests:Gaia Mancuso: None declared, Emanuel Della Torre: None declared, Marco Lanzillotta: None declared, Giuseppe Alvise Ramirez: None declared, Lorenzo Dagna Grant/research support from: The Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR) received unresctricted research/educational grants from Abbvie, Bristol-Myers Squibb, Celgene, Janssen, Merk Sharp & Dohme, Mundipharma Pharmaceuticals, Novartis, Pfizer, Roche, Sanofi-Genzyme, and SOBI., Consultant of: Prof Lorenzo Dagna received consultation honoraria from Abbvie, Amgen, Biogen, Bristol-Myers Squibb, Celltrion, Novartis, Pfizer, Roche, Sanofi-Genzyme, and SOBI.

Information Needs of Microenterprise Owners in Louisiana

2013 ◽  
Author(s):  
Tao Jin
Keyword(s):  
Information Needs ◽  
Wide Spectrum ◽  
Research Project ◽  
Ongoing Research ◽  
Industrial Sectors

This presentation will report on an ongoing research project about the information needs of microenterprise owners in Louisiana. Microenterprises are those businesses with fewer than five employees or sole proprietorships with no employees. They exist across all industrial sectors and incorporate a wide spectrum of information needs.Cette communication présente un projet de recherche en cours s'intéressant aux besoins informationnels des propriétaires de microentreprises de la Louisiane. Les microentreprises comptent moins de cinq employés, y compris celles à propriétaire unique sans employé, et sont présentes dans tous les secteurs d'activités. Les besoins informationnels varient donc grandement.

Celiac Disease in Kosovar Albanian Children: Evaluation of Clinical Features and Diagnosis

2020 ◽  
Vol 16 (3) ◽  
pp. 241-247
Author(s):  
Atifete Ramosaj-Morina ◽  
Alije Keka-Sylaj ◽  
Arbana Baloku Zejnullahu ◽  
Lidvana Spahiu ◽  
Virgjina Hasbahta ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Dominant Mode ◽  
Primary School Children ◽  
Cross Sectional ◽  
Classical Form ◽  
Wide Range ◽  
The Mean

Background: Celiac disease is an immune-mediated disorder characterized by variable clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy. Objectives: The aim of this study was to present the clinical spectrum and patterns of celiac disease in Kosovar Albanian children. Methods: A cross-sectional retrospective study was performed with Albanian children aged 0-18 years, treated for celiac disease in the Pediatric Clinic, University Clinical Center of Kosovo from 2005 to 2016. Results: During the study period, 63 children were treated for celiac disease. The mean age at diagnosis was 5.5 years (SD ± 3.31). The mean age at celiac disease onset was 3.3 years (SD ± 2.02), while the mean delay from the first symptoms indicative of celiac disease to diagnosis was 2.2 years (SD ± 2.09). More than 70% of the patients were diagnosed in the first 7 years of life, mainly presented with gastrointestinal symptoms, while primary school children and adolescents mostly showed atypical symptoms (p<0.001). The classical form of celiac disease occurred in 78% of the cases. Sixty (95%) patients carried HLA-DQ2.5, DQ2.2 and/or HLA-DQ8 heterodimers, and only three of them tested negative. Conclusions: Kosovo, as the majority of developing countries, is still facing the classical form of celiac disease as the dominant mode of presentation; as a result, most children with other forms of the celiac disease remain undiagnosed. : Physicians should be aware of the wide range of clinical presentations and utilize low testing thresholds in order to prevent potential long-term problems associated with untreated celiac disease.

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