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Diagnosis of Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a disease of multiple hormonal imbalances. Mutations in CYP21A2 (the gene encoding 21-hydroxylase, a cytochrome P-450 enzyme) result in lack of 21-hydroxylase, which is required for the production of cortisol and aldosterone in the adrenal cortex. A deficiency of this enzyme has cascading effects. Reduced cortisol leads to overproduction of pituitary corticotropin, which stimulates the accumulation of cortisol precursors and their subsequent diversion through the steroid pathways that produce adrenal androgens. Today, the classic form is the most common cause of atypical genitalia in 46,XX newborns and of primary adrenal insufficiency during childhood. Continue reading “Diagnosis of Congenital Adrenal Hyperplasia”

Revised Diagnostic Criteria for Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1, inherited in an autosomal dominant pattern, is characterized by multiple café-au-lait macules (CALMs), skinfold freckling (more correctly termed lentiginous macules since they occur in non–sun exposed areas), iris Lisch nodules, tumors of the nervous system, and other features. Continue reading “Revised Diagnostic Criteria for Neurofibromatosis Type 1 (NF1)”

Revised McGeer Criteria for Respiratory Tract Infection Surveillance (RTIs)

The criteria that define infections for surveillance purposes were selected to increase the likelihood that the events captured by application of the definitions are true infections. Presentations of infection in older residents of long-term care facilities (LTCFs), may be atypical, so failure to meet surveillance definitions may not fully exclude the presence of infection. For this reason, the surveillance definitions presented here may not be adequate for real-time case finding, diagnosis, or clinical decision making (eg, antibiotic initiation). Separate clinical guidelines address early identification of infections and appropriate initiation of antibiotic therapy in LTCF residents, which are both important for impacting resident outcomes. Continue reading “Revised McGeer Criteria for Respiratory Tract Infection Surveillance (RTIs)”

Revised McGeer Criteria for Urinary Tract Infection Surveillance (UTIs)

The definitions for UTI presented here differ substantially from the original surveillance definitions1 for both (A) residents without an indwelling catheter and (B) residents with an indwelling catheter. The revised definitions take into account the low probability of UTI in residents without indwelling catheters if localizing symptoms are not present, as well as the need for microbiologic confirmation for diagnosis. Continue reading “Revised McGeer Criteria for Urinary Tract Infection Surveillance (UTIs)”

Criteria for Proven Invasive Fungal Disease

Invasive fungal diseases (IFDs) remain important causes of morbidity and mortality. The consensus definitions of the Infectious Diseases Group of the European Organization for Research and Treatment of Cancer and the Mycoses Study Group have been of immense value to researchers who conduct clinical trials of antifungals, assess diagnostic tests, and undertake epidemiologic studies. Continue reading “Criteria for Proven Invasive Fungal Disease”

Diagnostic Criteria for Chronic Neutrophilic Leukemia (CNL)

Chronic neutrophilic leukemia (CNL) is a rare, often aggressive myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis, bone marrow granulocyte hyperplasia, and frequent hepatosplenomegaly. The seminal discovery of oncogenic driver mutations in colony-stimulating factor 3 receptor (CSF3R) in the majority of patients with CNL in 2013 anchored a new scientific framework, deepening our understanding of its molecular pathogenesis, providing a diagnostic biomarker, and rationalizing the use of pharmacological targeting. Continue reading “Diagnostic Criteria for Chronic Neutrophilic Leukemia (CNL)”

Accelerated Phase Criteria for Chronic Myeloid Leukemia (CML)

The chronic myeloid leukemia (CML) is classically staged into chronic phase (CP, most patients at presentation), accelerated phase (AP) and blast phase (BP). Many definitions have been used for these stages, but all the data generated from the tyrosine kinase inhibitor (TKI) studies has used the historically standard definition where AP is defined by the presence of one or more of the following: ≥15% blasts in PB/BM, ≥20% basophils in PB, platelets <100,000/µL unrelated to treatment or the development of cytogenetic evolution. Blast phase is defined by the presence of ≥30% blasts in the peripheral blood or bone marrow, the presence of clusters of blasts in marrow or the presence of extramedullary disease with immature cells (i.e., a myeloid sarcoma). Continue reading “Accelerated Phase Criteria for Chronic Myeloid Leukemia (CML)”

Criteria for Acute Myocardial Infarction in the Left Bundle Branch Block

In the Emergency Department, the diagnosis of acute myocardial infarction (AMI) relies initially on a patient’s history and the 12-lead electrocardiogram (ECG). Establishing the diagnosis of AMI in the left bundle branch block (LBBB) is difficult and can result in delay of definitive treatment. In 1996, Sgarbossa found 3 ECG criteria to evaluate for AMI in patients with LBBB. Continue reading “Criteria for Acute Myocardial Infarction in the Left Bundle Branch Block”

Diagnostic Criteria for Hypersensitivity Pneumonitis

Hypersensitivity pneumonitis (HP), also called extrinsic allergic alveolitis, is a respiratory syndrome involving the lung parenchyma and specifically the alveoli, terminal bronchioli, and alveolar interstitium, due to a delayed allergic reaction. Such reaction is secondary to a repeated and prolonged inhalation of different types of organic dusts or other substances to which the patient is sensitized and hyper responsive, primarily consisting of organic dusts of animal or vegetable origin, more rarely from chemicals. Continue reading “Diagnostic Criteria for Hypersensitivity Pneumonitis”

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