Clinical and laboratory diagnosis of heritable platelet disorders in adults and children: a British Society for Haematology Guideline

Abstract Objective.—To provide both a detailed description of the laboratory tests available in the diagnosis of platelet disorders and a testing algorithm, based on platelet count, that can be used to direct the evaluation of platelet disorders. Data Sources.—A literature search was conducted using the National Library of Medicine database. Study Selection.—The literature on laboratory testing of platelet function was reviewed. Data Extraction and Data Synthesis.—Based on the literature review, an algorithm for platelet testing was developed. Conclusions.—A history of mucocutaneous bleeding often indicates abnormal platelet function that can be associated with a normal, increased, or decreased platelet count. Multiple laboratory procedures can now be used to determine the underlying pathologic condition of platelet dysfunction when other deficiencies or defects of the coagulation cascade or fibrinolysis are ruled out. Simple procedures, such as platelet count, peripheral blood smear, and a platelet function screening test, will often lead the investigator to more specific analyses. Although platelet function testing is often limited to larger medical centers with highly trained technologists, newer technologies are being developed to simplify current procedures and make platelet function testing more accessible. This review provides an algorithm for platelet testing that may be of benefit to pathologists and physicians who deal with hemostatic disorders.

Download Full-text

Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

Hematology ◽

10.1182/asheducation-2013.1.268 ◽

2013 ◽

Vol 2013 (1) ◽

pp. 268-275 ◽

Cited By ~ 15

Author(s):

Reyhan Diz-Küçükkaya

Keyword(s):

Laboratory Tests ◽

Clinical Manifestations ◽

Laboratory Diagnosis ◽

Molecular Characteristics ◽

Functional Abnormality ◽

Excessive Bleeding ◽

Glanzmann Thrombasthenia ◽

Platelet Disorders ◽

And Function ◽

Bernard Soulier Syndrome

Abstract Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause excessive bleeding beginning in early childhood, most of IPDs have mild bleeding tendencies and therefore are not always easy to distinguish from acquired platelet disorders. The diagnosis of IPD may require extensive laboratory investigation, because current routine laboratory tests are not satisfactory for differential diagnosis in some cases, and most of the specific tests are not readily available in many countries. This review summarizes the classification and clinical and molecular characteristics of known IPDs, including Bernard-Soulier syndrome and Glanzmann thrombasthenia, with a focus on current challenges in the laboratory diagnosis and management of bleeding in these patients.

Download Full-text

Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline

British Journal of Haematology ◽

10.1111/bjh.16366 ◽

2020 ◽

Vol 189 (1) ◽

pp. 24-38 ◽

Cited By ~ 2

Author(s):

David Roper ◽

Mark Layton ◽

David Rees ◽

Chris Lambert ◽

Tom Vulliamy ◽

...

Keyword(s):

G6pd Deficiency ◽

Laboratory Diagnosis ◽

British Society

Download Full-text

Epidermolysis bullosa in Greece: the patients’ journey so far

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20182414 ◽

2018 ◽

Vol 4 (3) ◽

pp. 282

Author(s):

Ioanna Verroiou ◽

Vassiliki N. Tzanetakou ◽

Alexandra Katsarou ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Clinical Characteristics ◽

Laboratory Diagnosis ◽

Published Data ◽

Laboratory Assessment ◽

Inherited Disorders ◽

Mucosal Involvement ◽

Skin Fragility ◽

Diagnostic Management ◽

Adults And Children

Background: Hereditary epidermolysis bullosa (EB) represents a group of rare, inherited disorders with different penetrance patterns characterized by skin fragility and easy inducibility of blisters. Mucosal involvement of internal organs may occur. As no published data on EB in Greece exist, this study aimed to record demographics and clinical characteristics of EB patients. Another objective was to identify the associations among clinical characteristics of different types in connection with immunofluorescence mapping (IMF) findings and molecular analysis (MA) used for the laboratory diagnosis of the disease.Methods: This is a descriptive study conducted at the outpatient clinic of rare diseases of Andreas Sygros Hospital, Athens, Greece from March 2012 until February 2015. Adults and children presenting with EB were enrolled. Patients underwent a thorough clinical and laboratory assessment. Specific laboratory analyses were performed in Rome and two sets of data based on IFM and MA were collected.Results: In total, 41 patients were enrolled. Prevalence rate of EB was 0.024%. The most frequent type was dystrophic EB, as it affected 20 patients (48.8%). Twelve patients (29.3%) were diagnosed with EB simplex, 6 patients (14.6%) with Kindler syndrome and 3 (7.3%) with junctional EB. IFM was performed in 26 patients and MA in 8 patients. The concordance among clinical and laboratory diagnosis was 88.5%.Conclusions: This study is the first report on hereditary EB in Greece. Since there is a lack in diagnostic management of EB, we would strongly encourage an effort to perform the required laboratory tests in Greece.

Download Full-text

Abuse of people with learning disabilities and other vulnerable adults

Advances in Psychiatric Treatment ◽

10.1192/apt.4.2.119 ◽

1998 ◽

Vol 4 (2) ◽

pp. 119-125 ◽

Cited By ~ 13

Author(s):

Leila B. Cooke ◽

Valerie Sinason

Keyword(s):

Sexual Abuse ◽

Learning Disabilities ◽

Learning Disability ◽

Residential Care ◽

Learning Disabled ◽

British Society ◽

Disabled Children ◽

Adults And Children ◽

Vulnerable Adults ◽

Voluntary Organisations

Workers in the field of learning disability drew attention to the problem of sexual abuse and learning-disabled children and adults only a decade ago (Sinason, 1986; Cooke, 1989), at the same time that British society first tolerated the knowledge that non-disabled children were being abused. Although guidelines have been produced and voluntary organisations such as the National Association for the Protection from Sexual Abuse of Adults and Children with Learning Disabilies (NAPSAC), the Association for Residential Care (ARC) and Voice UK have made vital contributions, psychiatric involvement and provision is uneven (ARC & NAPSAC, 1993).

Download Full-text

Stimulus Ratio Effects on Speech Discrimination by Children and Adults

Journal of Speech Language and Hearing Research ◽

10.1044/jshr.3403.671 ◽

1991 ◽

Vol 34 (3) ◽

pp. 671-678 ◽

Cited By ~ 9

Author(s):

Joan E. Sussman

Keyword(s):

Discrimination Task ◽

Response Pattern ◽

Response Patterns ◽

Speech Discrimination ◽

Adult Group ◽

Discrimination Accuracy ◽

Formant Frequency ◽

Response Strategies ◽

Place Of Articulation ◽

Adults And Children

This investigation examined the response strategies and discrimination accuracy of adults and children aged 5–10 as the ratio of same to different trials was varied across three conditions of a “change/no-change” discrimination task. The conditions varied as follows: (a) a ratio of one-third same to two-thirds different trials (33% same), (b) an equal ratio of same to different trials (50% same), and (c) a ratio of two-thirds same to one-third different trials (67% same). Stimuli were synthetic consonant-vowel syllables that changed along a place of articulation dimension by formant frequency transition. Results showed that all subjects changed their response strategies depending on the ratio of same-to-different trials. The most lax response pattern was observed for the 50% same condition, and the most conservative pattern was observed for the 67% same condition. Adult response patterns were most conservative across condition. Differences in discrimination accuracy as measured by P(C) were found, with the largest difference in the 5- to 6-year-old group and the smallest change in the adult group. These findings suggest that children’s response strategies, like those of adults, can be manipulated by changing the ratio of same-to-different trials. Furthermore, interpretation of sensitivity measures must be referenced to task variables such as the ratio of same-to-different trials.

Download Full-text