Filling in the gaps on FILS syndrome: A case report and literature review

FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.     

Impact of the Foundations of Clinical Medicine Course on USMLE Scores

BACKGROUND  The synthesis of basic and clinical science knowledge during the clerkship years has failed to meet educational expectations. OBJECTIVES  We hypothesized that a small-group course emphasizing the basic science underpinnings of disease, Foundations of Clinical Medicine (FCM), could be integrated into third year clerkships and would not negatively impact the United States Medical Licensure Examination (USMLE) step 2 scores. DESIGN  In 2001–2002, all third year students met weekly in groups of 8–12 clustered within clerkships to discuss the clinical and basic science aspects of prescribed, discipline-specific cases. PARTICIPANTS  Students completing USMLE step 2 between 1999 and 2004 (n = 743). MEASUREMENTS  Course evaluations were compared with the overall institutional average. Bivariate analyses compared the mean USMLE steps 1 and 2 scores across pre- and post-FCM student cohorts. We used multiple linear regression to assess the association between USMLE step 2 scores and FCM cohort controlling for potential confounders. RESULTS  Students’ average course evaluation score rose from 66 to 77 (2001–2004) compared to an institutional average of 73. The unadjusted mean USMLE step 1 score was higher for the post-FCM cohort (212.9 vs 207.5, respectively, p < .001) and associated with step 2 scores (estimated coefficient = 0.70, p < .001). Post-FCM cohort (2002–2004; n = 361) mean step 2 scores topped pre-FCM (1999–2001; n = 382) scores (215.9 vs 207.7, respectively, p < .001). FCM cohort remained a significant predictor of higher step 2 scores after adjustment for USMLE step 1 and demographic characteristics (estimated coefficient = 4.3, p = .002). CONCLUSIONS  A curriculum integrating clinical and basic sciences during third year clerkships is feasible and associated with improvement in standardized testing. Electronic supplementary material  The online version of this article (doi: ) contains supplementary material, which is available to authorized users.     

Efficacy of Transcranial Direct Current Stimulation and Repetitive Transcranial Magnetic Stimulation for Treating Fibromyalgia Syndrome: A Systematic Review

Objective: To systematically review the literature to date applying repetitive transcranial magnetic stimulation (rTMS) or transcranial direct current stimulation (tDCS) for patients with fibromyalgia syndrome (FMS). Method: Electronic bibliography databases screened included PubMed, Ovid MEDLINE, PsychINFO, CINAHL, and Cochrane Library. The keyword “fibromyalgia” was combined with (“transcranial” and “stimulation”) or “TMS” or “tDCS” or “transcranial magnetic stimulation” or “transcranial direct current stimulation”. Results: Nine of 23 studies were included; brain stimulation sites comprised either the primary motor cortex (M1) or the dorsolateral prefrontal cortex (DLPFC). Five studies used rTMS (high‐frequency‐M1: 2, low‐frequency‐DLPFC: 2, high‐frequency‐DLPFC: 1), while 4 applied tDCS (anodal‐M1: 1, anodal‐M1/DLPFC: 3). Eight were double‐blinded, randomized controlled trials. Most (80%) rTMS studies that measured pain reported significant decreases, while all (100%) tDCS studies with pain measures reported significant decreases. Greater longevity of significant pain reductions was observed for excitatory M1 rTMS/tDCS. Conclusion: Studies involving excitatory rTMS/tDCS at M1 showed analogous pain reductions as well as considerably fewer side effects compared to FDA apaproved FMS pharmaceuticals. The most commonly reported side effects were mild, including transient headaches and scalp discomforts at the stimulation site. Yearly use of rTMS/tDCS regimens appears costly ($11,740 to 14,507/year); however, analyses to apapropriately weigh these costs against clinical and quality of life benefits for patients with FMS are lacking. Consequently, rTMS/tDCS should be considered when treating patients with FMS, particularly those who are unable to find adequate symptom relief with other therapies. Further work into optimal stimulation parameters and standardized outcome measures is needed to clarify associated efficacy and effectiveness.