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Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. Consequently, the peripheral blood cell profile shows an increased number of granulocytes and their immature precursors, including occasional blast cells.
CML is one of the few cancers known to be caused by a single, specific genetic mutation. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (see Pathophysiology).
CML progresses through 3 phases: chronic, accelerated, and blast. In the chronic phase of disease, mature cells proliferate; in the accelerated phase, additional cytogenetic abnormalities occur; in the blast phase, immature cells rapidly proliferate.[1] Approximately 85% of patients are diagnosed in the chronic phase and then progress to the accelerated and blast phases after 3-5 years. The diagnosis of CML is based on the histopathologic findings in the peripheral blood and the Philadelphia chromosome in bone marrow cells (see Workup).
CML accounts for 20% of all leukemias affecting adults. It typically affects middle-aged individuals. Uncommonly, the disease occurs in younger individuals. Younger patients may present with a more aggressive form of CML, such as in accelerated phase or blast crisis. Uncommonly, CML may appear as a disease of new onset in elderly individuals.
The goals of treatment are to achieve hematologic, cytogenetic, and molecular remission. Although a variety of medications have been used in CML, including myelosuppressive agents and interferon alfa, the tyrosine kinase inhibitor imatinib mesylate is currently the agent of choice, and other drugs in this category are playing increasingly important roles. However, allogeneic bone marrow transplantation is currently the only proven cure for CML.
Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species, as with Cy, the Cyclops kitten.
Intestinal malrotation is a developmental anomaly that occasionally causes an unusual array of symptoms in adults. The delay in diagnosis that is common in patients with malrotation frequently results in a ruptured appendix. Appendicitis should be considered when characteristic signs and symptoms are present, even if the location of abdominal pain is atypical.
Pulmonary edema is usually caused by a heart condition. Other causes include pneumonia, exposure to certain toxins and drugs, and being at high elevations. Depending on the cause, pulmonary edema symptoms may appear suddenly or develop over time. Mild to extreme breathing difficulty can occur. Cough, chest pain, and fatigue are other symptoms. Treatment generally includes supplemental oxygen and medications.
Electronystagmography (ENG) is a diagnostic test to record involuntary movements of the eye caused by a condition known as nystagmus. It can also be used to diagnose the cause of vertigo, dizziness or balance dysfunction by testing the vestibular system.
For patients in extremis from respiratory failure or shock, securing vascular access is crucial, along with establishing an airway and ensuring adequacy of breathing and ventilation. Peripheral intravenous catheter insertion is often difficult, if not impossible, in infants and young children with circulatory collapse. Intraosseous (IO) needle placement, shown in the images below, provides a route for administering fluid, blood, and medication. An IO line is as efficient as an intravenous route and can be inserted quickly, even in the most poorly perfused patients.
In a normal hip, the ball at the upper end of the thighbone (femur) fits firmly into the socket, which is part of the large pelvis bone. In babies and children with developmental dysplasia (dislocation) of the hip (DDH), the hip joint has not formed normally.
Swelling is a typical symptom of lymphedema and commonly affects legs and arms. Compression stockings work to encourage the movement of lymph out of an affected limb. Lymphedema is incurable. However, treatment can help reduce the swelling and pain