2 results
Advances in the field of genetics and difficulties in the diagnosis of di george syndrome.
- I. E. Menendez Gil, M. L. Maria Del Carmen
-
- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S983-S984
-
- Article
-
- You have access Access
- Open access
- Export citation
-
Introduction
The spectacular progress of the last decade in the field of genetics is allowing a new development of medicine and the ability to make a better diagnosis. A great example of this is the diagnosis of chromosome 22q11 deletion, which occurs in 1:4000 live births.
ObjectivesThis case wants to illustrate the difficulties in the diagnosis, despite technological advances.
MethodsExhaustive review of the literature
ResultsThis is a 38-year-old male patient diagnosed with chromosome 22q11 deletion in adulthood.
Family history of medical problems: mother with genetic diagnosis of chromosome 22q11 deletion, in adulthood, after the diagnosis of her own son.
Personal history of medical problems:
- Psychiatry: he has been followed up intermittently in psychology since he was 6 years old, due to cognitive difficulties and behavioral alterations. He has had several hospital admissions in psychiatry during adolescence for behavioral disorders and intellectual disability, with possible psychotic symptoms. In treatment with antiepileptics and antipsychotics.
- Cardiology: aortic aneurysm and bicuspid aortic valve were detected. The patient underwent surgery in 2018.
- Genetics: he is diagnosed with chromosome 22q11 deletion in 2019. This is an inherited mutation of maternal origin that is detected later.
- Rheumatology: seropositive rheumatoid arthritis, non-erosive.
- Rehabilitation: treatment to improve psychomotor skills, from 6-12 years of age.
It is important to emphasize that the diagnosis was made at the age of 35 years, after a more deep study which had been carried out after the debut of the cardiac pathology. In addition, it is very striking that the diagnosis of his mother was made later than the one of the patient himself.
Currently, the patient presents serious difficulties in respecting the rules of coexistence at home and in understanding social norms, so that he has not been able to integrate in any environment and remains isolated at home. Serious behavioral alterations with tendency to physical and verbal heteroaggressiveness, difficulty in accepting limits and sexualized and uninhibited behaviors.
Clinical judgment: chromosome 22q11 deletion.
ConclusionsEarly diagnosis is essential to be able to treat and, above all, prevent the possible complications that this syndrome may present. However, diagnosis is sometimes very complex, despite advances in molecular diagnostic techniques. Therefore, an integrative approach is very valuable, looking at the individual as a whole and not only by systems or medical subspecialties. In addition, it would be very interesting to establish a means of communication between specialties. Finally, it would be a real step forward to integrate all the medical information of each person in a single medical record, an apparently simple aspect, but so far from being possible.
Disclosure of InterestNone Declared
2516 Ultra-low Na18F tracer dosing for preclinical skeletal imaging enables new concepts in digital PET/CT
- Maria I. Menendez, Richard Moore, Katherine Binzel, Michael Friel, Jun Zhang, Rebecca Jackson, Michael Knopp
-
- Journal:
- Journal of Clinical and Translational Science / Volume 2 / Issue S1 / June 2018
- Published online by Cambridge University Press:
- 21 November 2018, pp. 34-35
-
- Article
-
- You have access Access
- Open access
- Export citation
-
OBJECTIVES/SPECIFIC AIMS: The aim of this study was to assess the ultra-dose Na18F dPET protocol feasibility for skeleton imaging in a canine model with reduced radiation dose and preserved quantitative characteristics. We hypothesized that administering an ultra-low Na18F dose would provide suitable image quality while reducing subject’s exposure to radiation. METHODS/STUDY POPULATION: In total, 13 adult male beagles [weight (kg) mean±SD; 14.3±2.2] were scanned. The dogs were administered 3 different Na18F doses: 3 (standard dose/SD), 1 (low dose/LD), and 0.05 (ultra-low dose/ULD) mCi. Imaging started ≃45 minutes post injection for ≃ 33 minute total acquisition time. Covering the whole body, 11 bed positions, acquiring 120 (3 mCi) and 180 (1, 0.05 mCi) seconds per bed position. All imaging was performed on a digital photon counting system (Philips Vereos, pre-commercial release). PET list mode data were reconstructed using Time-of-flight with 4, 2, and 1 mm3 voxel volumes. Point spread function, and Gaussian filtering were applied. Two experienced blinded readers evaluated image sets overall quality, tissue characterization, and quality of background in the whole body skeleton. Three-dimensional (3D) regions of interest (ROI) were traced over the distal femur, first lumbar vertebra, and a portion of the liver, recording standard uptake values (SUVmax and SUVmean). RESULTS/ANTICIPATED RESULTS: All the scans and reconstructions were successfully completed in all subjects. Decreasing Na18F dose from the standard dose (3 mCi) to the ultra-low dose/ULDO (0.05 mCi), demonstrated acceptable image quality and quantification. Ultra-low dose Na18F SUVmean values for the 3D ROIs reported (mean±SD) 2.6±0.7, 2.5±1.1, 9±1.6, and 0.6±0.3 from the right and left distal femur, first lumbar vertebra, and a portion of the liver, respectively. When compared the SD with the LD and ULD, dPET demonstrated acceptable image quality and definition for qualitative overall assessment. This was also found for the overall quantitative ROI assessment of the healthy canine skeletons. DISCUSSION/SIGNIFICANCE OF IMPACT: Ultra-low dose Na18F at a level of 50 μCi for a 14 kg canine appears to be diagnostically feasible and a robust option to reduce (60-fold) radiotracer doses in a translational animal model using a dPET system. Furthermore, it allows us to move preclinical nuclear medicine imaging forward with substantial reduced exposure levels while preserving image quality. Both visual and quantitative results indicate that the standard-dose bone Na18F dPET can be decreased with a satisfactory diagnostic image quality. Ultra-low Na18F dose is indeed important for younger populations, control patients, and nononcological diseases/conditions. Favorable pharmacokinetics of Na18F (such as high bone uptake, minimal binding to serum proteins, rapid single-pass extraction, and fast clearance from the soft tissues) in addition to the technological capabilities of dPET/CT demonstrated feasibility enabling dose reduction strategies. Ultra-low dose has diagnostic reproducibility and lower radiation burden compared with higher fixed dose techniques in current available guidelines [Society of Nuclear Medicine and Molecular Imaging; SNMMI (5–10 mCi)]. Na18F dPET/CT provides higher sensitivity and diagnostic accuracy, which enables high-quality images with lower tracer activity in this translational animal model. Future research will apply the same methodology to other anatomical targets as well as to the use of different tracers. Preclinical nuclear medicine imaging using ultra-low tracer doses, demonstrated the potential to obtain reasonable quality images and diminishing radiation surveillance in accordance with as low as reasonably achievable tracer levels.