Explore chapters and articles related to this topic
Radionuclide Production
Published in Michael Ljungberg, Handbook of Nuclear Medicine and Molecular Imaging for Physicists, 2022
81Rb (4.5 h)/81mKr (13.5 s) for ventilation studies and 82Sr (25.5 d)/82Rb (75 s) for cardiac PET studies are examples of other generators with a special requirement due to the extremely short half-life of the eluted product. Recently, generator systems producing alpha-emitters for therapy has become available, for example, 225Ac (10 d)/213Bi (45.6 m). Also, radionuclides used in therapy may by themselves be generators like 211At (T½ = 7 h) decaying to 211Po (T½ = 0.5 s) or 223Ra, which generates a series of relatively short-lived radioactive daughters in situ. To read more about generator systems see reference [4].
Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Alpha-thalassemia results from a gene deletion of two or more copies of the four alpha-globin genes on chromosome 16. It is common among individuals of Southeast Asian, African, West Indian, and Mediterranean ancestry. Deletion of two genes, alpha-thalassemia trait, causes a mild hemolytic anemia. The deletions may occur on the same chromosome (cis aa/-) or on two different chromosomes (trans a-/a-). Individuals of Southeast Asian descent are more likely to carry the cis configuration compared to their African counterparts. Individuals with alpha-thalassemia trait are at increased risk for having a child with a more severe form of alpha-thalassemia. Hemoglobin H disease is caused by the deletion of three alpha-globin genes. Affected individuals have mild to moderate hemolytic anemia. Alpha-thalassemia major (Hb Bart disease) results from the absence of functional alpha-globin genes. Fetal hydrops and intrauterine fetal demise is the expected outcome in these cases due to the inability to produce functional HbF. Hemoglobin Bart disease does not usually occur in fetuses of alpha-thalassemia carriers of African origin, since individuals of African descent usually have the trans-configuration genotype. See Chap. 14 in Maternal-Fetal Medicine Evidence Based Guidelines.
Gastroenterology
Published in Kaji Sritharan, Jonathan Rohrer, Alexandra C Rankin, Sachi Sivananthan, Essential Notes for Medical and Surgical Finals, 2021
Kaji Sritharan, Jonathan Rohrer, Alexandra C Rankin, Sachi Sivananthan
In most cases there is pre-existing cirrhosis and HCC should be considered in all patients with cirrhosis that suddenly deteriorates. More common in males. Investigations: raised serum alpha-foetoprotein (AFP); abdominal ultrasound or CT +/- biopsy will aid diagnosis. If detected early consider hepatic resection. Transplantation is an option, but for many patients treatment is palliative, e.g. chemotherapy, ethanol injection.
Changes in cardiac output, rhythm regularity, and symptom severity after electrical cardioversion of atrial fibrillation
Published in Scandinavian Cardiovascular Journal, 2023
Sofia Klavebäck, Helga Skúladóttir, Joakim Olbers, Jan Östergren, Frieder Braunschweig
The effect on QoL when converting AF to SR has been studied before, though often with non-validated and general questionnaires [10, 21]. Our results are consistent with the finding of Sandhu et al. who did use the disease-specific AFEQT questionnaire 3 months after EC for AF. [22]. The improvement in QoL for patients maintaining SR, on average 5 days after EC, in our study was from 56.1 (±23.3, p < 0.01) to 78.7 (±14.3, p < 0.01) on a scale of 0–100, reflecting moderate and mild impairment respectively. The average improvement was by 19.8 points (±21.4, p < 0.01) and Dorian et al. related a change in over 19 points in the AFEQT QoL score to a moderate improvement in global QoL [23]. The disease specific and validated AFEQT questionnaire has been shown to be internally consistent (Cronbach alpha coefficient >0.88), and sensitive to the severity of AF and changes over time [9, 24]. We also used the disease specific and reliable SCL (Cronbach alpha coefficient >0.87) evaluating both frequency and severity of symptoms [10]. Additionally, we used the mEHRA score which is established in clinical guidelines [11]. All three scores showed a reduction in symptoms and improved QoL in patients with SR.
Alpha-1 antitrypsin deficiency: current therapy and emerging targets
Published in Expert Review of Respiratory Medicine, 2023
Oisín F. McElvaney, Daniel D. Fraughen, Oliver J. McElvaney, Tomás P. Carroll, Noel G. McElvaney
Alpha-1 antitrypsin (AAT) is a glycosylated protein produced mainly in the liver [1]. It first came to prominence in the 1960s when Laurell and Eriksson, in Malmo, Sweden discovered that a lack of this protein was associated with an increased risk for emphysema [2]. Further work showed that the major role of AAT in the lung was to inhibit neutrophil elastase (NE), an omnivorous protease produced by neutrophils, which is capable of digesting many structural components of the lung in addition to proteins involved in immunity and inflammation [3]. This led to the development of the protease-antiprotease theory of emphysema in which the antiprotease protection in the lung, mainly provided by AAT, is markedly reduced, either functionally, in theory by cigarette smoke, or quantitatively by AAT deficiency (AATD), leading to the unopposed action of NE and subsequent lung destruction [4–6]. Further work elucidated the liver disease associated with AATD [7] and determined that the major cause of low levels of AAT in the blood and lungs of people with AATD was due to polymerization and retention of misfolded AAT protein in the liver [8,9].
Respiratory comorbidities in severe asthma: focus on the pediatric age
Published in Expert Review of Respiratory Medicine, 2023
Amelia Licari, Beatrice Andrenacci, Maria Elisa Di Cicco, Maddalena Leone, Gian Luigi Marseglia, Mariangela Tosca
BE presence must be suspected in any case of long-lasting, exacerbation-prone, difficult-to-treat asthma with poor response to standard therapies or difficult-to-treat asthma with RLRI [101]. ABPA and CRS must be ruled out since they are frequent findings in subjects suffering from BE [103]. In patients with difficult to treat asthma, the presence of bronchiectasis should certainly be considered a comorbidity, however it is always important in these patients to exclude other diagnoses such as cystic fibrosis, alpha 1 trypsin deficiency, infectious causes, immune disorders, chronic aspiration, DCP and structural airway abnormalities that explain persistent and sometimes delayed respiratory symptoms. Although non-diagnostic, lung function tests showing irreversible broncho-obstruction suggest BE: 50% of subjects with eosinophilic BE show reversible obstruction [106]. FeNO may help to correctly identify subjects with BE-overlapping-asthma [107] or distinguish neutrophilic from eosinophilic BE [105]. In contrast, sputum cultures may help detect bacteria such as Pseudomonas aeruginosa or Haemophilus influenzae [101].