Publications by authors named "Michelle A Ting"
Article Synopsis
- Somatic molecular profiling of pediatric brain tumors enhances diagnosis and treatment by identifying patients with potential germline variants following initial tumor testing.
- During a study at Seattle Children's Hospital, 88 CNS tumors underwent molecular testing, revealing that 31 patients had variants that suggested the need for germline testing.
- Out of those identified, only 19 patients (61%) were tested, with 10 confirming germline variants; challenges remain in ensuring all eligible patients receive testing, highlighting the need for better support and genetic counseling in the process.
Purpose: To better characterize the correlation of bony orbital dysmorphology with strabismus in craniosynostosis.
Methods: The medical records of patients with craniosynostosis with and without strabismus seen at Rady Children's Hospital (San Diego, CA) from March 2020 to January 2022 were reviewed retrospectively in this masked, case-control study. Computed tomography scans of the orbits were analyzed to obtain dimensions of the orbital entrance and orbital cone.
Article Synopsis
- Deep brain stimulation (DBS) of the subthalamic nucleus can help patients with Parkinson's but can also lead to problems like blepharospasm and apraxia of eyelid opening (ALO).
- This study documented the experiences of five patients suffering from these issues after receiving STN-DBS, focusing on their treatments and symptom management from 2011 to 2020.
- Results showed that a personalized treatment plan, including options like botulinum toxin injections and various surgical procedures, led to significant improvements in their eyelid movement disorders.
Purpose: To evaluate the prevalence of depression and anxiety among individuals with thyroid eye disease (TED) and identify sociodemographic risk factors using the NIH All of Us database.
Methods: Three hundred ninety eight cases with TED were compared with 1,592 controls with demographics matching the 2020 US Census. Primary outcomes were diagnosed depression or anxiety; Patient Health Questionnaire-9 (PHQ-9) scores and General Anxiety Disorder-7 (GAD-7) scores were included as secondary outcomes.
Ectopic Fibrous Dysplasia Presenting As a Well-Circumscribed Orbital Mass.
Ophthalmic Plast Reconstr Surg
March 2023
The authors present the case of a middle-aged woman with subacute progressive swelling of the OD associated with pain and severely limited duction in all gazes. MRI demonstrated a ~3 cm circumscribed mass in the extraconal space, which displaced and distorted the globe and impinged upon ocular adnexa. She underwent lateral orbitotomy with bone osteotomy to remove the mass, and subsequent histopathologic examination showed woven bone set within a fibrotic background, microscopic features of fibrous dysplasia.
View Article and Find Full Text PDFPurpose: To assess the association between thyroid eye disease (TED) and glaucoma.
Methods: Patients 18 years of age and over enrolled in the NIH All of Us Research Program, a nationwide cohort, were extracted. Those with conditions relating to TED were identified and compared with 2020 US Census-matched controls without a diagnosis of TED in a 1:4 ratio.
Purpose: To characterize the distribution of fat-to-muscle ratio (FMR) across patients with thyroid eye disease (TED) and to assess the association between FMR and therapeutic response to teprotumumab.
Methods: A retrospective cohort study of patients completing a full course of teprotumumab for TED between January 2020 and March 2022 at a single tertiary referral center. Patients without baseline orbital imaging were excluded.
Article Synopsis
- The MYOD1 p.L122R mutation was found in aggressive embryonal rhabdomyosarcomas and other types of rhabdomyosarcomas, highlighting its significance in cancer research.
- A study at Texas Children's Hospital identified this mutation in six tumors and revealed multiple genomic alterations, with a high rate of targetable mutations in the patients, particularly in the PI3K-AKT pathway.
- The research also showed that MYOD1-mutant tumors had distinct histopathological features and patients with these tumors had poor outcomes, suggesting a need for targeted therapies and better understanding of the genetic landscape in pediatric sarcomas.
Mass photokeratitis following ultraviolet light exposure at a nightclub.
Cont Lens Anterior Eye
August 2016
Article Synopsis
- A group of 22 individuals experienced photokeratitis, an eye condition, after exposure to unprotected UV-B light at a nightclub within a single day.
- Patients were treated with various eye drops and showed no further complications after the initial treatment.
- The incident emphasizes the dangers of UV lamps in public venues and the necessity for enforced safety guidelines regarding UV radiation exposure to protect public health.
What's your diagnosis? Infantile primary congenital glaucoma with trisomy 21 (Down syndrome) associated with Brushfield spots.
J Pediatr Ophthalmol Strabismus
September 2013