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5.
Malays J Pathol ; 44(3): 397-413, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36591709

RESUMEN

Platelets, along with coagulation factors and vasculature, represent the three main compartments of hemostasis. Upon investigation of a suspected hemostasis disorder, platelet count, size and morphology often offer important clues to the diagnosis or help narrow the differential diagnosis. In this review, we describe a general approach to diagnosing platelet disorders, starting with easily obtained data such as findings of complete blood count (CBC) and microscopic review of a stained peripheral blood smear. We discuss general findings that help separate consumptive from underproduction thrombocytopenia. We further touch on inherited thrombocytopenia disorders after classifying them into those associated with small, normal sized or large platelets. Illustrative microscopic images are provided where contributory. We conclude with a suggested algorithmic step-by-step approach to investigating a suspected platelet disorder in children.


Asunto(s)
Trastornos de la Coagulación Sanguínea , Trastornos de las Plaquetas Sanguíneas , Trombocitopenia , Niño , Humanos , Trastornos de las Plaquetas Sanguíneas/diagnóstico , Trombocitopenia/diagnóstico , Plaquetas , Hemostasis
6.
Malays J Pathol ; 44(3): 523-526, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36591720

RESUMEN

Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other inborn errors of metabolism are common causes of Sudden Unexpected Deaths in Infancy (SUDI). If identified early or before metabolic decompensation, MCADD is manageable. In the US and other countries, identification of MCADD has improved through the routine use of newborn screening (NBS), which is able to identify most cases. This case study presented here occurred before NBS was implemented in Ohio for MCADD and outlines the typical clinical presentation, pathological features, and relevant biochemical and molecular markers for identifying MCADD. Genetic counselling should be sought for the family if MCADD is identified.


Asunto(s)
Errores Innatos del Metabolismo Lipídico , Recién Nacido , Lactante , Humanos , Acil-CoA Deshidrogenasa/genética , Errores Innatos del Metabolismo Lipídico/diagnóstico , Errores Innatos del Metabolismo Lipídico/genética , Tamizaje Neonatal , Biomarcadores
7.
Malays J Pathol ; 43(2): 219-239, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34448787

RESUMEN

In this article, we provide an illustrated review that may serve as a microscope companion, as well as a reference for the diagnosis of red blood cells alterations and the interpretation of their significance. Beginners in the fields of clinical haematology and haematopathology may benefit from this manuscript's brevity and practical points, while the more advanced will find it useful as a teaching tool.


Asunto(s)
Eritrocitos , Hematología
8.
Malays J Pathol ; 42(1): 37-49, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32342929

RESUMEN

The morphologic findings on a peripheral blood smear can provide important clues that help establish a diagnosis or guide the workup of many clinical disorders. Finding a blast - whether clinically expected or not - is one of the most impactful of such findings. Pathologists, clinical haematologists, technologists, and trainees in the medical field often feel the need to refer to an illustrated reference when encountering suspected blasts and blast-mimics. This article provides a practical concise resource that demonstrates the morphological features of the various types of blasts and illustrates the cytologic characteristics that help distinguish them from their benign mimickers in the paediatric population.


Asunto(s)
Recuento de Células Sanguíneas , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/patología , Niño , Femenino , Humanos , Masculino
9.
Malays J Pathol ; 40(1): 11-26, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29704380

RESUMEN

Tonsillectomy is among the most commonly performed operations in children. Although follicular lymphoid hyperplasia is usually the main and only pathologic finding at microscopic examination, a variety of other rare but important pathologic changes may be encountered. This review aims to provide an inclusive practical resource and reference for both training and practising pathologists. It discusses the spectrum of pathologic findings, including both neoplastic and non-neoplastic conditions and provides illustrative images.


Asunto(s)
Tonsila Palatina/patología , Niño , Preescolar , Femenino , Humanos , Masculino , Tonsila Palatina/cirugía , Tonsilectomía
11.
Blood ; 91(2): 695-705, 1998 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-9427728

RESUMEN

Erythrocyte protein 4.2 (P4.2) is an important component of the erythrocyte membrane skeletal network with an undefined biologic function. Presently, very little is known about the expression of the P4.2 gene during mouse embryonic development and in adult animals. By using the Northern blot and in situ hybridization techniques, we have examined the spatial and temporal expression of the P4.2 gene during mouse development. We show that expression of the mouse P4.2 gene is temporally regulated during embryogenesis and that the P4.2 mRNA expression pattern coincides with the timing of erythropoietic activity in hematopoietic organs. P4.2 transcripts are first detected in embryos on day 7.5 of gestation and are localized exclusively in primitive erythroid cells of yolk sac origin. These erythroid cells remain to be the only source for P4.2 expression until the switch of the hematopoietic producing site to fetal liver. In mid- and late-gestation periods, P4.2 mRNA expression is restricted to the erythroid cells in fetal liver and to circulating erythrocytes. Around and after birth, the site for P4.2 expression is switched from liver to spleen and bone marrow, and P4.2 transcripts are only detected in cells of the erythroid lineage. These results provide the evidence for specific P4.2 expression in erythroid cells. In addition, the timing and pattern of expression of the P4.2 gene suggest the specific regulation of the P4.2 gene.


Asunto(s)
Proteínas Sanguíneas/biosíntesis , Proteínas Sanguíneas/genética , Eritrocitos/metabolismo , Regulación del Desarrollo de la Expresión Génica , ARN Mensajero/biosíntesis , Animales , Proteínas del Citoesqueleto , Membrana Eritrocítica/metabolismo , Hibridación in Situ , Proteínas de la Membrana/biosíntesis , Proteínas de la Membrana/genética , Ratones
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