A 52-year-old male underwent whole-exome sequencing (WES) for amyotrophic lateral sclerosis (ALS). While no germline alterations relevant to his ALS were detected, multiple de novo ...
Mayo Clinic laboratory experts share three case studies in this month’s “PathWays” post and are challenging you to test your Clinical Pathology, Molecular Diagnostic, Hematopathology, and Dermatology pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.
A 59-year-old man with a history of HIV presented with a 6 cm mass involving the left palatine tonsil. Biopsy of the mass showed the ...
A child was born with features consistent with Down syndrome. Karyotype results were 46,XY,der(21;21)(q10;q10),+21, supporting the clinical diagnosis. Parental chromosomal analysis was completed as a ...
A 13-month-old female infant was referred for delayed milestones, atrial septal defect, low-set ears, mild hypertelorism, and iridal coloboma. Chromosome analysis was performed, which showed ...
Mayo Clinic laboratory experts share four case studies in this month’s “PathWays” post and are challenging you to test your blood education, neuropathology, breast pathology, and clinical pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.
A 52-year-old female presented to the emergency department with chest discomfort. Cardiac troponin I (TnI), measured using a goat antibody-based sandwich immunoassay (ADVIA Centaur, Siemens ...
Mayo Clinic laboratory experts share four case studies in this month’s PathWays post and are challenging you to test your anatomic pathology, infectious disease pathology, laboratory genetics, and gastrointestinal pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.
A 25-year-old female presented with extreme malnourishment (BMI=9). Her nutrition has been suffering due to severe gastroparesis along with cyclic vomiting and food intolerance. Her ...
Mayo Clinic laboratory experts share four case studies in this month’s PathWays post and are challenging you to test your blood, clinical pathology, hematopathology, and anatomic pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.
A 57-year-old female presented with easy bruising, hirsutism, and weight loss. Morning serum cortisol was 54.1 mcg/dL (reference interval (RI): 7-25 mcg/dL) with an adrenocorticotropic ...
Here, we report a case of a 56-year-old African-American female with a reported history of “alpha thal trait” found to have severe reticulocytopenic microcytic anemia ...
Mayo Clinic laboratory experts share four case studies in this month's PathWays post and are challenging you to test your gastrointestinal, molecular diagnostics, and hematopathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.