Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1.35 years. Of the nine female heterozygotes, four had a positive family history, seven had intellectual disability and five had at least one mental health disorder. Mental health concerns included attention deficit hyperactivity disorder (ADHD), autism spectrum features, bipolar disorder, and depression. The frequency of intellectual and mental health problems in this group is higher than previously reported for affected males and for symptomatic females. These findings may have implications for diagnosis of early manifesting heterozygotes and for their health supervision.

Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies.

INTRODUCTION: The correlation of markers of disease severity among brothers with Duchenne or Becker muscular dystrophy has implications for clinical guidance and clinical trials. METHODS: Sibling pairs with Duchenne or Becker muscular dystrophy (n = 60) were compared for ages when they reached clinical milestones of disease progression, including ceased ambulation, scoliosis of ≥ 20°, and development of cardiomyopathy. RESULTS: The median age at which younger brothers reached each milestone, compared with their older brothers ranged from 25 months younger for development of cardiomyopathy to 2 months older for ceased ambulation. For each additional month of ambulation by the older brother, the hazard of ceased ambulation by the younger brother decreased by 4%. CONCLUSIONS: The ages when siblings reach clinical milestones of disease vary widely between siblings. However, the time to ceased ambulation for older brothers predicts the time to ceased ambulation for their younger brothers.

Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy.

OBJECTIVE: To estimate the age when cardiomyopathy develops in boys with Duchenne muscular dystrophy (DMD) and to analyze the effect of corticosteroid treatment on the age of cardiomyopathy onset. STUDY DESIGN: We identified a population-based sample of 462 boys with DMD, born between 1982 and 2005, in 5 surveillance sites in the US. Echocardiographic and corticosteroid treatment data were collected. Cardiomyopathy was defined by a reduced fractional shortening (<28%) or ejection fraction (<55%). The age of cardiomyopathy onset was determined. Survival analysis was performed to determine the effects of corticosteroid treatment on cardiomyopathy onset. RESULTS: The mean (SD) age of cardiomyopathy onset was 14.3 (4.2) years for the entire population and 15.2 (3.4) years in corticosteroid-treated vs 13.1 (4.8) in non-treated boys. Survival analysis described a significant delay of cardiomyopathy onset for boys treated with corticosteroids (P < .02). By 14.3 years of age, 63% of non-treated boys had developed cardiomyopathy vs only 36% of those treated. Among boys treated with corticosteroids, there is a significant positive effect of duration of corticosteroid treatment on cardiomyopathy onset (P < .0001). For every year of corticosteroid treatment, the probability of developing cardiomyopathy decreased by 4%. CONCLUSIONS: Oral corticosteroid treatment was associated with delayed cardiomyopathy onset. The duration of corticosteroid treatment also correlated positively with delayed cardiomyopathy onset. Our analysis suggests that a boy with DMD treated for 5 years with corticosteroids might experience a 20% decrease in the likelihood of developing cardiomyopathy compared with untreated boys.

Are We Making an Impact? A Qualitative Program Assessment of the Resident Leadership, Well-being, and Resiliency Program for General Surgery Residents.

OBJECTIVE: After implementing a formal resident well-being and resiliency program in our surgery residency, we performed in-depth qualitative interviews to understand residents' perceptions of: (1) the impact and benefits, (2) the essential elements for success, and (3) the desired changes to the well-being program. DESIGN: The well-being program is structured to address mental, physical, and social aspects of resident well-being through monthly experiential sessions. All General Surgery residents participated in the program; content is delivered during residents' protected educational time. For this study, we conducted individual semistructured interviews: residents were asked for their feedback to understand the value, benefits, and drawbacks of program. SETTING: Accreditation Council for Graduate Medical Education-accredited General Surgery residency program PARTICIPANTS: We used purposeful selection to maximize diversity in recruiting residents who had participated in program for at least 1 year. Recruitment continued until themes were saturated. Eleven residents were interviewed including 2 from each residency year. RESULTS: Residents reported benefits in 3 thematic spheres: (1) Culture/Community, (2) Communication/Emotional Intelligence, and (3) Work-Life Integration Skills. Key structural elements of success for a well-being program included a committed leader, a receptive department culture, occurrence during protected time, and interactive sessions that taught applicable life skills. In discussing opportunities for improvement, residents desired more faculty-level involvement. Some residents were skeptical of the benefit of time spent learning nontechnical skills; some wanted more emphasis placed on accountability to patients and work. CONCLUSIONS: Our qualitative assessment of a novel resident well-being program demonstrates reported benefits that reflect the intent of the program. Residents most benefited from sessions that were interactive, introduced readily applicable skills for their day-to-day lives, and included reinforcement of principles through experiential learning. Engagement of the department leadership is essential to the success of the program, as is ongoing feedback and modification to ensure that program is tailored to the needs of residents.

Holmium Laser Enucleation of the Prostate Is Safe and Feasible as a Same Day Surgery.

OBJECTIVE: To assess the safety, feasibility and treatment outcomes of holmium laser enucleation of the prostate (HoLEP) as a same day surgery (SDS). METHODS: HoLEPs performed from November 2013 to December 2018 at our institution were reviewed retrospectively. Inclusion criteria for same day surgery (SDS) included living in the local metropolitan area with access to local hospital and Eastern Cooperative Oncology Group (ECOG) 0-2, regardless of prostate size and anticoagulation status. Those patients who were discharged directly from the postoperative care unit were identified as SDS cases. Patients admitted overnight after HoLEP during the same period were used as a matched cohort. Patient demographics, disease characteristics and treatment outcomes were compared. RESULTS: A total of 377 patients were identified, including 199 SDS and 178 non-SDS patients. No statistical difference was present between the 2 groups regarding the post-op complication and readmission rates. The non-SDS group had a significantly higher percentage of patients with history of urinary retention, lower pre-op Qmax, and larger prostate volume. The SDS group had shorter operative time, length of stay (LOS), and catherization time (all P <.05). At 1-year follow-up, no statistically different change in Qmax, PVR, or IPSS score was noted between the 2 groups. CONCLUSION: Same day outpatient surgery for HoLEP is safe in patients who live in close proximity and have ECOG status 0-2. Our readmission rate and complication rate are comparable to those reported in the literature with markedly decreased LOS. Long-term functional outcome is not compromised by SDS.

Pancreatic Cancer Lymph Node Resection Revisited: A Novel Calculation of Number of Lymph Nodes Required.

BACKGROUND: Pancreatic cancer is the third leading cause of cancer related deaths in the US. Although lymph node (LN) metastasis is a prognostic indicator, the extent of LN resection is still debated. Our goal was to use the distribution of the ratio of positive to negative LNs to derive a more adequate number of necessary examined LNs based on the target LN threshold (TLNT). STUDY DESIGN: Using the National Cancer Database, we performed a retrospective study of surgically resected pancreatic adenocarcinoma (2010 to 2015). We evaluated the number of positive LNs and total LNs examined and the log of the ratio of positive LNs to negative LNs (LODDS). The distribution of LODDS was examined to determine a target LNs examined threshold sufficient to detect N1 disease. Using the LODDS distribution of N1 cases, target LNs examined threshold were calculated to encompass 90 of the N1 group distribution. RESULTS: Of the total 24,038 resected patients included in this study, 26% underwent operation only, 18% received neoadjuvant therapy, and 56% underwent adjuvant therapy. In all, 8,144 (34%) patients had N0 disease and 15,894 (66%) had N1 disease. To capture 90% to 95% of the N1 group, the minimum number of LNs examined would be 18 (LODDS -2.74) to 24 (LODDS -3.04), respectively. CONCLUSIONS: Although previous studies have suggested 11 to 17 LNs required for adequate LN sampling in pancreatic cancer, our findings suggest that to capture 90% of cases with N1 disease, 18 LNs is more appropriate.

Unseen fearful faces promote amygdala guidance of attention.

Little is known about the network of brain regions activated prior to explicit awareness of emotionally salient social stimuli. We investigated this in a functional magnetic resonance imaging study using a technique that combined elements of binocular rivalry and motion flash suppression in order to prevent awareness of fearful faces and houses. We found increased left amygdala and fusiform gyrus activation for fearful faces compared to houses, despite suppression from awareness. Psychophysiological interaction analyses showed that amygdala activation was associated with task-specific (fearful faces greater than houses) modulation of an attention network, including bilateral pulvinar, bilateral insula, left frontal eye fields, left intraparietal sulcus and early visual cortex. Furthermore, we report an unexpected main effect of increased left parietal cortex activation associated with suppressed fearful faces compared to suppressed houses. This parietal finding is the first report of increased dorsal stream activation for a social object despite suppression, which suggests that information can reach parietal cortex for a class of emotionally salient social objects, even in the absence of awareness.