ABSTRACT
Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016-2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence-based guidelines in anticipation of disease-specific therapies.
ABSTRACT
Machine learning (ML) algorithms to detect critical findings on head CTs may expedite patient management. Most ML algorithms for diagnostic imaging analysis utilize dichotomous classifications to determine whether a specific abnormality is present. However, imaging findings may be indeterminate, and algorithmic inferences may have substantial uncertainty. We incorporated awareness of uncertainty into an ML algorithm that detects intracranial hemorrhage or other urgent intracranial abnormalities and evaluated prospectively identified, 1000 consecutive noncontrast head CTs assigned to Emergency Department Neuroradiology for interpretation. The algorithm classified the scans into high (IC+) and low (IC-) probabilities for intracranial hemorrhage or other urgent abnormalities. All other cases were designated as No Prediction (NP) by the algorithm. The positive predictive value for IC+ cases (N = 103) was 0.91 (CI: 0.84-0.96), and the negative predictive value for IC- cases (N = 729) was 0.94 (0.91-0.96). Admission, neurosurgical intervention, and 30-day mortality rates for IC+ was 75% (63-84), 35% (24-47), and 10% (4-20), compared to 43% (40-47), 4% (3-6), and 3% (2-5) for IC-. There were 168 NP cases, of which 32% had intracranial hemorrhage or other urgent abnormalities, 31% had artifacts and postoperative changes, and 29% had no abnormalities. An ML algorithm incorporating uncertainty classified most head CTs into clinically relevant groups with high predictive values and may help accelerate the management of patients with intracranial hemorrhage or other urgent intracranial abnormalities.
Subject(s)
Deep Learning , Humans , Uncertainty , Tomography, X-Ray Computed/methods , Intracranial Hemorrhages/diagnostic imaging , Algorithms , Retrospective StudiesABSTRACT
BACKGROUND: Supranuclear vertical gaze palsies and slowed vertical saccades are characteristic clinic features of progressive supranuclear palsy (PSP). The "hummingbird sign," reflective of midbrain atrophy, is a classic radiographic sign of PSP. Correlation between eye movement abnormalities and radiographic findings in PSP has been reported previously. However, due to the use of clinical criteria not commonly employed in neuro-ophthalmic practice and neuroimaging techniques that are not widely available, it remains unclear whether correlation between midbrain structure and characteristic ocular-motor disturbances can be helpful to neuro-ophthalmologists seeking to adjudicate difficult or unusual diagnostic cases. METHODS: Patients with a diagnosis of probable PSP according to Movement Disorders Society criteria were studied retrospectively. A neuroradiologist calculated brainstem volumes in enrolled participants and normal controls. Spearman correlations were used to correlate the extent of eye movement limitation as assessed by 2 neuro-ophthalmologists with brainstem volumes. RESULTS: Fourteen participants with PSP and 15 healthy controls with similar age and gender distribution were enrolled and evaluated retrospectively. All 14 participants with PSP had undergone MRIs. Midbrain atrophy significantly correlated with the PSP rating scale (P < 0.001). PSP patients had significantly reduced volumes in the midbrain (P -0.0026), tegmentum (0.0001), tectum (0.0001), and medulla (P = 0.0024) compared with normal controls. Notes documenting quantified ocular motor function were available in 7 of 14 participants with PSP. Midbrain atrophy significantly correlated with in the extent of upward gaze limitation (P = 0.03). CONCLUSIONS: The severity of upward gaze limitation correlates with the severity of midbrain atrophy in patients with PSP. Recognition of this correlation may help to adjudicate diagnostic dilemmas and guide further evaluation.
Subject(s)
Strabismus , Supranuclear Palsy, Progressive , Atrophy/pathology , Humans , Magnetic Resonance Imaging/methods , Mesencephalon/diagnostic imaging , Mesencephalon/pathology , Retrospective Studies , Supranuclear Palsy, Progressive/diagnosis , Supranuclear Palsy, Progressive/diagnostic imaging , Tegmentum MesencephaliABSTRACT
OBJECTIVE: To implement a multifaceted wellness program in an academic radiology department to prevent burnout and to assess initial outcomes with special focus on the challenges related to the coronavirus disease 2019 (COVID-19) pandemic. METHODS: A wellness program was established to address institutional and personal factors of burnout. The program focused on interventions to improve efficiency of practice, provide personal and career support, and create a culture of wellness. The components of the program were designed with input from radiology faculty, and the program was financially supported by the hospital's physician organization. A survey was performed 6 months after the initiation of the program to determine radiologist engagement and satisfaction. With the onset of the COVID-19 pandemic, a new survey was administered to identify needs of faculty and adjust initiatives. This study was exempt from institutional review board approval. RESULTS: The majority of radiologists (79%) agreed or strongly agreed that the wellness program provided opportunities to connect with coworkers. All radiologists agreed that the program was helpful and should be continued. During the COVID-19 pandemic, 49% of physicians requested initiatives focused on well-being, emotional health, and mindfulness to support them during the crisis. CONCLUSIONS: The implementation of a faculty wellness program in an academic radiology department addressed institutional and personal factors of burnout, allowed faculty to connect with coworkers, and was found to be helpful by all radiologists. The COVID-19 pandemic shifted needs to well-being and emotional health initiatives. Follow-up data are necessary to assess its effect on burnout reduction.
Subject(s)
Burnout, Professional , COVID-19 , Radiology , Burnout, Professional/epidemiology , Burnout, Professional/prevention & control , Health Promotion , Humans , Pandemics , Radiology/education , SARS-CoV-2ABSTRACT
We present the case of a 61-year-old retired catholic priest, who was adopted at a very young age, with psychiatric history of anxiety and depression presenting for evaluation of at least 4 year memory loss and word finding difficulties. Over the preceding couple of years his cognitive functions had rapidly declined. As a result, he became dependent on his elderly parents for most of his instrumental activities of daily living including administration of medication, financial management, and driving. He continues to be independent in his personal care. His presentation offered diagnostic challenges due to the interplay of anxiety and cognitive disorders involving both memory and language domains. In addition, he resisted to repeat formal neuropsychological evaluation. At the bedside, his poor effort on testing was often blamed on his severe anxiety confounding the clinical picture. Lack of knowledge of his family history and his childhood development, and unclear premorbid functioning complicated the diagnostic formulation. A differential diagnosis ranging from possible functional cognitive disorder to neurodevelopmental disorder and neurodegenerative disorders will be discussed.
Subject(s)
Activities of Daily Living , Cognition Disorders , Aged , Anxiety Disorders/diagnosis , Child , Cognition Disorders/diagnosis , Diagnosis, Differential , Humans , Male , Middle Aged , Neuropsychological TestsSubject(s)
Anticonvulsants/adverse effects , Electrocardiography/drug effects , Status Epilepticus/drug therapy , Tachycardia/chemically induced , Anticonvulsants/therapeutic use , Brain/diagnostic imaging , Diagnosis, Differential , Electroencephalography , Epilepsy/etiology , Fatal Outcome , Female , Heart Arrest/etiology , Humans , Magnetic Resonance Imaging , Middle Aged , Positron-Emission Tomography , Status Epilepticus/complications , Tachycardia/etiologySubject(s)
Adenoviridae/isolation & purification , Adenovirus Infections, Human/diagnosis , Brain/pathology , Meningoencephalitis/diagnosis , Adenovirus Infections, Human/complications , Adenovirus Infections, Human/drug therapy , Adenovirus Infections, Human/pathology , Bacterial Infections/diagnosis , Cerebrospinal Fluid/virology , Diagnosis, Differential , Fatal Outcome , Female , Headache , Humans , Meningoencephalitis/complications , Meningoencephalitis/pathology , Middle Aged , Multiple Sclerosis/complications , Sleepiness , Virus Diseases/diagnosisSubject(s)
Eye Diseases/microbiology , Skin/pathology , Syphilis/diagnosis , Behcet Syndrome/diagnosis , Delayed Diagnosis , Diagnosis, Differential , Exanthema/etiology , Eye Diseases/diagnosis , Female , Fundus Oculi , Glucocorticoids/therapeutic use , Headache/etiology , Humans , Iritis/drug therapy , Iritis/etiology , Middle Aged , Oral Ulcer/drug therapy , Oral Ulcer/etiology , Scleritis/drug therapy , Scleritis/etiology , Syphilis/complications , Vision Disorders/etiologyABSTRACT
BI-RADS-3 is a category in mammography for probably benign lesions and for which periodic follow-up with repeat imaging is recommended. At our institution repeated mammograms are performed at 6, 12, 18, and 24 months. The purpose of this study was to assess the significance of 18-month mammogram for evaluation of BI-RADS-3 lesions. Following IRB approval, electronic medical records and picture archiving and communications system were used to review 121,862 consecutive mammograms between February, 2002-May, 2009. A total of 8,400 patients with BI-RADS-3 mammograms were identified. Of these, 7,632 patients were followed until completion of 24 month mammogram or biopsy following an upgrade in their BI-RADS status. Over the follow-up, 197 patients received an upgrade in their BI-RADS status of which 179 were biopsied. Histopathologic results were reviewed. The majority of the BI-RADS-3 lesions were upgraded at 6-month mammogram (n = 150, 76.1%) followed by 32 (16.2%), 11 (5.6%), and 4 (2.0%) at 12, 18, and 24 month mammograms respectively. Thirty-four of 179 upgraded and biopsied lesions were found to be malignant. From these 27 (79.4%), 3 (8.8%), 3 (8.8%), and 1 (2.9%) lesions were identified at 6, 12, 18, and 24 month mammograms respectively. At the 18-month mammogram 3/7,632 lesions (0.04%) were found to be malignant. The vast majority of malignant lesions (88.2%) were detected within the first 12-months of follow-up. Only three of 179 biopsies (1.7%) were malignant at 18-month follow-up. Based on those results a 6-, 12-, and 24-month follow-up protocol for BI-RADS-3 lesions is sufficient.