We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.
Adult ; Delayed Diagnosis ; DiGeorge Syndrome ; diagnosis ; genetics ; Female ; Humans ; Hypocalcemia ; diagnosis ; genetics

Purpose: Radiomic models elaborate geometric and texture features of tumors extracted from imaging to develop predictors for clinical outcomes. Stereotactic body radiation therapy (SBRT) has been increasingly applied in the ablative treatment of thoracic tumors. This study aims to identify predictors of treatment responses in patients affected by early stage non-small cell lung cancer (NSCLC) or pulmonary oligo-metastases treated with SBRT and to develop an accurate machine learning model to predict radiological response to SBRT. Materials and Methods: Computed tomography (CT) images of 85 tumors (stage I–II NSCLC and pulmonary oligo-metastases) from 69 patients treated with SBRT were analyzed. Gross tumor volumes (GTV) were contoured on CT images. Patients that achieved complete response (CR) or partial response (PR) were defined as responders. One hundred ten radiomic features were extracted using PyRadiomics module based on the GTV. The association of features with response to SBRT was evaluated. A model using support vector machine (SVM) was then trained to predict response based solely on the extracted radiomics features. Receiver operating characteristic curves were constructed to evaluate model performance of the identified radiomic predictors. Results: Sixty-nine patients receiving thoracic SBRT from 2008 to 2018 were retrospectively enrolled. Skewness and root mean squared were identified as radiomic predictors of response to SBRT. The SVM machine learning model developed had an accuracy of 74.8%. The area under curves for CR, PR, and non-responder prediction were 0.86 (95% confidence interval [CI], 0.794–0.921), 0.946 (95% CI, 0.873–0.978), and 0.857 (95% CI, 0.789–0.915), respectively. Conclusion Radiomic analysis of pre-treatment CT scan is a promising tool that can predict tumor response to SBRT.

Purpose: This study aimed to evaluate the role of gallium-67 single photon emission computed tomography (SPECT) with contrast computed tomography (CT) in the evaluation and monitoring of infected abdominal aortic aneurysms (IAAA). Materials and Methods: A retrospective cohort analysis was performed using prospectively collected data of consecutive patients with IAAA in Princess Margaret Hospital in Hong Kong between January 2010 and December 2020. The patients were identified using the Radiology Information System. Results: All five patients had proven IAAA on CT and/or metabolic imaging.Among them, three were further supported by positive blood culture results. Gallium-67 SPECT with contrast CT was useful in the detection of residual disease, monitoring, and detection of recurrence. Conclusion Gallium-67 SPECT with contrast CT is helpful for evaluating IAAA.It serves an important role in guiding management, especially during long-term follow-up.

Purpose: This study aimed to evaluate the role of gallium-67 single photon emission computed tomography (SPECT) with contrast computed tomography (CT) in the evaluation and monitoring of infected abdominal aortic aneurysms (IAAA). Materials and Methods: A retrospective cohort analysis was performed using prospectively collected data of consecutive patients with IAAA in Princess Margaret Hospital in Hong Kong between January 2010 and December 2020. The patients were identified using the Radiology Information System. Results: All five patients had proven IAAA on CT and/or metabolic imaging.Among them, three were further supported by positive blood culture results. Gallium-67 SPECT with contrast CT was useful in the detection of residual disease, monitoring, and detection of recurrence. Conclusion Gallium-67 SPECT with contrast CT is helpful for evaluating IAAA.It serves an important role in guiding management, especially during long-term follow-up.