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Introduction Severe acute pancreatitis is a life-threatening condition characterized by systemic inflammatory response syndrome and an increased risk of complications such as venous thrombosis, all of which contributes to a high mortality rate. Heparin resistance, although rare, can lead to ...
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Introduction Pseudoachondroplasia is a rare and severe genetic disorder caused by a mutation in the COMP gene, making precise molecular diagnosis crucial for effective treatment. In the literature, case reports of patients with pseudoachondroplasia have consistently described novel mutations in the ...
Introduction The Clinical Laboratory Improvement Amendments require nonconforming safety event identification, targeted intervention, and evaluation of interventional effectiveness. Without a standardized reporting structure, risk and safety teams will experience ongoing challenges with situational ...
Introduction We sought to compare clinical features among distinct antibody profiles defined by the presence or absence of antinucleosome (anti-NCS) and anti–double-stranded DNA (anti-dsDNA) antibodies in Tunisian patients with systemic lupus erythematosus (SLE). Methods The study enrolled 131 ...
Introduction Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting 5% to 19% of carriers. Creatine kinase (CK) is a traditional biomarker for DMD, but its screening accuracy is limited. This study evaluated the potential of combining the proto-oncogene tyrosine-protein kinase ...
Introduction Somatic mutations in the JAK2 , CALR , and MPL genes are traditionally tested using a cascading reflex algorithm in BCR::ABL1 –negative myeloproliferative neoplasms (MPNs). However, next-generation sequencing (NGS) has revealed that these variants may coexist, exposing limitations in ...
Introduction Severe acute pancreatitis is a life-threatening condition characterized by systemic inflammatory response syndrome and an increased risk of complications such as venous thrombosis, all of which contributes to a high mortality rate. Heparin resistance, although rare, can lead to ...
Introduction Anastomotic fistula is the most feared complication in colorectal surgery. It requires early diagnosis followed by urgent treatment. In this study, we analyzed the dynamics of C-reactive protein (CRP) as a marker for early detection of anastomotic fistula. Methods A prospective study ...
Introduction Lymphocyte compartment undergoes dramatic changes during childhood and adulthood. Changes in lymphocyte subtypes with age, from infancy to senescence, are rare. Methods A total of 364 healthy individuals were included in this study. The population was divided into 2 groups: children ...
Introduction The antiretroviral regime emtricitabine–tenofovir disoproxil fumarate (Truvada [Gilead Sciences]) is a type of pre-exposure prophylaxis (PrEP) therapy used for the prevention and management of HIV infections. This protection, however, cannot be applied to other sexually transmitted ...
Introduction Cold-reacting antibodies that bind to and trigger premature erythrocyte destruction are present in patients with cold autoimmune hemolytic anemia (cAIHA). The diagnosis of cAIHA is challenging because of the rarity of the disease, especially in patients with nonspecific features. ...
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Roger L. Bertholf, PhD
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