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Your search keyword '"Aggarwal, Mukul"' showing total 3 results
Start Over Author "Aggarwal, Mukul" Topic physical diagnosis
3 results on '"Aggarwal, Mukul"'

1. Congenital sideroblastic anemia with vacuolated bone marrow precursors secondary to SLC25A38 mutation—A great mimicker of Pearson syndrome.

Author

Nayak, Amiya Ranjan, Gudapati, Pratyusha, Viswanathan, Ganesh Kumar, Dass, Jasmita, and Aggarwal, Mukul

Subjects
ANEMIA diagnosis, ANEMIA, PHYSICAL diagnosis, BONE marrow examination, BONE marrow, DIFFERENTIAL diagnosis, IRON overload, BLOOD cell count, GENETIC mutation, MITOCHONDRIAL pathology, STAINS & staining (Microscopy), SEQUENCE analysis
Abstract

The article describes a case study of an eight-year-old girl with transfusion-dependent anemia diagnosed with congenital sideroblastic anemia due to a mutation in the SLC25A38 gene, leading to defective heme synthesis and ring sideroblast formation. Topics include the clinical features and genetic basis of congenital sideroblastic anemia, the significance of SLC25A38 mutations, and differential diagnosis involving bone marrow findings such as vacuolations.

Published
2024
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2. Prekallikrein deficiency due to homozygous KLKB1(+) mutation c.444_445insT (p.Ser151PhefsTer34).

Author

Abraham, Reema Miria, Viswanathan, Ganesh Kumar, Dass, Jasmita, Dhawan, Rishi, Aggarwal, Mukul, Kumar, Pradeep, Seth, Tulika, and Mahapatra, Manoranjan

Subjects
PARTIAL thromboplastin time, PHYSICAL diagnosis, PROTHROMBIN time, GENETIC mutation, ANTICOAGULANTS, BLOOD coagulation factors
Abstract

The article offers information about the Prekallikrein (PK) deficiency, a rare condition characterized by an asymptomatic, isolated prolongation of activated partial thromboplastin time (APTT). It mentions case study of a 60-year-old gentleman planned for an elective hip replacement surgery underwent pre-surgical routine blood tests including coagulation tests.

Published
2022
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3. Prekallikrein deficiency: Challenges in laboratory testing.

Author

Abraham, Reema, Viswanathan, Ganesh Kumar, Dass, Jasmita, Dhawan, Rishi, Aggarwal, Mukul, Kumar, Pradeep, Seth, Tulika, and Mahapatra, Manoranjan

Subjects
CLINICAL pathology, PARTIAL thromboplastin time, PHYSICAL diagnosis, PROTHROMBIN time, GENETIC mutation, ANTICOAGULANTS, POPULATION geography, RACE, BLOOD coagulation disorders, BLOOD coagulation factors
Published
2022
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