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1.
Scand J Clin Lab Invest ; 84(4): 278-284, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38990075

ABSTRACT

OBJECTIVES: The objective of this study was to perform a method comparison between the CellaVision preclassification neutrophil count and the reclassification neutrophil count performed by trained laboratory technicians, and to evaluate the diagnostic performance of the preclassification neutrophil count at clinical decision levels. METHODS: We retrospectively identified patient samples through 2019-2022 in which the differential count was performed on Cellavision (n = 4,354). Data on sample characteristics and leukocyte- and differential counts was extracted from the electronic medical journal. For each sample, data containing the pre- and reclassification leukocyte classification, respectively, was extracted from the Cellavision software. Method comparison between the pre-and reclassification neutrophil count was performed using Bland Altman analysis. Diagnostic performance of the preclassification neutrophil count was evaluated according to four pre-specified categories of results with the reclassification as reference method. RESULTS: The median difference between the pre- and reclassification neutrophil count was 0.044 x 109/L. The preclassification neutrophil count categorised 95.6% of all samples correctly according to the four categories. The sensitivity, specificity, positive predictive value and negative predictive value for detecting neutrophilia > 7.00 x 109/L was 98.8%, 97.2%, 95.8%, and 99.2%, respectively. In samples with leukopenia (n = 543), the sensitivity, specificity, positive predictive value and negative predictive value for detecting severe neutropenia (< 0.50 x 109/L) was 97.7%, 99.1%, 98.6%, and 98.5%, respectively. CONCLUSION: The diagnostic performance of the CellaVision preclassification neutrophil count was satisfactory. The preclassification neutrophil count may be released to the electronic medical journal to improve turnaround time and benefit laboratory management.


Subject(s)
Neutrophils , Humans , Leukocyte Count/methods , Retrospective Studies , Female , Sensitivity and Specificity , Male
2.
Pediatr Dermatol ; 39(4): 609-612, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35522049

ABSTRACT

Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.


Subject(s)
Connective Tissue Diseases , Neutropenia , Skin Abnormalities , Homozygote , Humans , Mutation , Neutropenia/diagnosis , Neutropenia/genetics , Phosphoric Diester Hydrolases/genetics , Skin Abnormalities/pathology
3.
Pediatr Blood Cancer ; 69(6): e29599, 2022 06.
Article in English | MEDLINE | ID: mdl-35253359

ABSTRACT

Neutropenia refers to a group of diseases characterized by a reduction in neutrophil levels below the recommended age threshold. The present study aimed to review the diagnosis and management of neutropenia, including a diagnostic toolkit and candidate underlying genes. This study also aimed to review the progress toward the definition of autoimmune and idiopathic neutropenia rising in infancy or in late childhood but without remission, and provide suggestions for efficient diagnostics, including indications for the bone marrow and genetic testing. The management and treatment protocols for common and unique presentations are also reviewed, providing evidence tailored to a single patient.


Subject(s)
Bone Marrow , Neutropenia , Bone Marrow Transplantation , Child , Humans , Italy , Medical Oncology , Neutropenia/diagnosis , Neutropenia/therapy , Syndrome
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