scholarly journals Clinicopathological Profile of the von Willebrand Disease in a Tertiary Care Centre in Varanasi

Author(s):  
Pawan K. Pandey ◽  
Vijai Tilak ◽  
Mahima Yadav ◽  
Neelu Kashyap

Abstract Objective The von Willebrand disease (vWD) is one of the most common inherited bleeding disorders in India; however, the diagnostic tests and its interpretation require specialized laboratory and personnel which are not readily available in the eastern part of North India. The purpose of this study is to estimate the relative prevalence of vWD and study the clinical and laboratory features including advanced diagnostic tests. Methods All patients referred to the pathology department for evaluation of bleeding were evaluated for vWD during a period of 4 years. Clinical and laboratory features were analyzed and reported. Results A total of 1,126 cases of bleeding manifestations were evaluated, and 237 cases of inherited bleeding disorders were diagnosed; vWD was diagnosed in 38 (16%) of these 237 cases. Advanced diagnostic tests were done in all of these cases. Conclusion The vWD is among the most common inherited bleeding disorders in the country, second only to hemophilia A. Type-1 vWD was the most frequent with 25 cases (65.7%), followed by type-2N with 7 cases (18.4%).

JMS SKIMS ◽  
2020 ◽  
Vol 23 (1) ◽  
pp. 48-49
Author(s):  
Javaid Ahmad Bhat ◽  
Shariq Rashid Masoodi

Apropos to the article by Dr Bali, titled “Mupirocin resistance in clinical isolates of methicillin-sensitive and resistant Staphylococcus aureus in a tertiary care centre of North India” (1), the authors have raised important issue of emerging antimicrobial resistance (AMR). Antimicrobial resistance is an increasingly serious threat to global public health that requires action across all government sectors and society. As per WHO, AMR lurks the effective prevention and management of an ever-increasing spectrum of infections caused by bacteria, parasites, fungi and viruses. Novel resistance mechanisms are emerging and spreading globally, threatening the man’s ability to treat common infectious diseases.


Life ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 202
Author(s):  
Réka Gindele ◽  
Adrienne Kerényi ◽  
Judit Kállai ◽  
György Pfliegler ◽  
Ágota Schlammadinger ◽  
...  

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diagnostic work on cases with certain bleeding disorders. Here we report only those, in whom NGS was indicated due to uncertainty of diagnosis or if genetic confirmation of initial diagnosis was required. Based on clinical and/or laboratory suspicion of von Willebrand disease (vWD, n = 63), hypo-or dysfibrinogenemia (n = 27), hereditary hemorrhagic telangiectasia (HHT, n = 10) and unexplained activated partial thromboplastin time (APTT) prolongation (n = 1), NGS using Illumina platform was performed. Gene panel covered 14 genes (ACVRL1, ENG, MADH4, GDF2, RASA1, F5, F8, FGA, FGB, FGG, KLKB1, ADAMTS13, GP1BA and VWF) selected on the basis of laboratory results. We identified forty-seven mutations, n = 29 (6 novel) in vWD, n = 4 mutations leading to hemophilia A, n = 10 (2 novel) in fibrinogen disorders, n = 2 novel mutations in HHT phenotype and two mutations (1 novel) leading to prekallikrein deficiency. By reporting well-characterized cases using standardized, advanced laboratory methods we add new pieces of data to the continuously developing “bleeding disorders databases”, which are excellent supports for clinical patient management.


2020 ◽  
Author(s):  
Michael Levine

Coagulopathy can be caused by numerous hereditary or acquired etiologies. Although some of these conditions are known and the patient is aware of the bleeding disorder, other bleeding disorders are diagnosed only after the onset of excessive hemorrhage. This review discusses both hereditary and acquired disorders of coagulopathy. Platelet disorders are discussed elsewhere. This review contains 2 figures, 7 tables, and 72 references. Key words: Coagulopathies; Coagulopathy; Bleeding disorder; Hereditary bleeding disorder; Acquired bleeding disorder; von Willebrand disease; Hemophilia; Coagulation cascade; Hemorrhage; Anticoagulant-associated hemorrhage


Healthline ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 100-107
Author(s):  
Arti Agrawal ◽  
Vikas Kumar ◽  
Sanjeev Kumar ◽  
Neha K Mani

Introduction: Dengue virus infection is a major public health issue prevalent in tropical and sub-tropical countries all over the world mostly in urban and semi-urban areas. WHO estimates about 50-100 million dengue infections worldwide every year. The present study is aimed to assess the prevalence and seasonal distribution of dengue disease during three consecutive years from 2016-2018 at a tertiary care centre of North India. Method: This is an observational retrospective study conducted on total 6,481 clinical suspected cases referred from indoor and outdoor departments of Medicine and Pediatrics of one of the medical colleges of Agra during the period from 1st January 2016 to 31st December 2018. Results: The maximum positivity was recorded in the year 2016 (16.66%), followed by 2017 (14.07%) and 2018(13.56%).Our study shows male preponderance with maximum cases in the year 2018 was recorded in the month of October (22.75%) whereas the lowest in the month of May (1.96%). Most of the cases were in the age group 0-30 years with a male preponderance. The outbreak occurred during the months of August to November indicating vector transmission in the monsoon and post-monsoon season. Conclusion: From the analysis, this study reflects that the numbers of dengue cases in 2016 were maximum and outnumbered the dengue cases among three consecutive years from 2016 to 2018. The peak in dengue positivity was observed during September to October. As this disease affects the population in the monsoon and post monsoon months therefore continuous monitoring of dengue infection is important during the post-monsoon season.


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