Exclusion of Linkage to the HLA Region in Ninety Multiplex Sibships with Autism

Several studies have suggested a role for the histocompatibility complex of loci (HLA) in the genetic susceptibility to autism. We have tested this hypothesis by linkage analysis using genetic marker loci in the HLA region on chromosome 6p in multiplex families with autism. We have examined sharing of alleles identical by descent in 97 affected sib pairs from 90 families. Results demonstrate no deviation from the null expectation of 50% sharing of alleles in this region; in fact, for most marker loci, the observed sharing was less than 50%. Thus, it is unlikely that loci in this region contribute to the genetic etiology of autism to any significant extent in our families.     

Bendamustine plus rituximab for indolent B‐cell lymphoma of renal significance

Treatment of indolent B‐cell non‐Hodgkin lymphomas (iNHL) of renal significance is challenging given the need for deep and prolonged hematological response to restore and control renal function overtime, yet to be balanced with the risk of adverse drug‐related events. This prospective single‐center study included 20 patients with iNHL of renal significance (tubulointerstitial presentation [n = 8], glomerulopathy with or without monoclonal Ig deposits [n = 12]) who received a steroid‐sparing regimen of rituximab plus bendamustine (BR), with either no or <1 month of steroid intake (as a first line therapy in 80%). Seventeen patients (85%) achieved a complete (CHR, n = 12) or a partial (PHR, n = 5) hematological response. Nine out of the 12 patients (75%) with iNHL‐related glomerulopathy had a complete (CRR) or a partial (PRR) renal response. Among the six patients with glomerulopathy and CHR, five had a CRR (83%) compared to 1/6 (17%) that did not reach CHR. eGFR increased from 38 to 58 mL/min/1.73 m², and returned to baseline in five patients. Among the eight patients with a tubulointerstitial presentation, six (75%) had a renal response (5 CRR), and eGFR increased from 29 to 48 mL/min/1.73 m². One patient with a PHR had a renal relapse. Mortality rate was 10% at 12 months. The BR regimen was well tolerated overall. Thus, despite severe renal disease at presentation, a relapsing iNHL in 20% of patients and several comorbidities, the BR regimen was efficient and safe in our series. It should be further assessed as a first line therapy for patients with iNHL of renal significance.     

Incidental finding of arteria lusoria during transradial coronary catheterization: Significance in interventional cardiology

Arteria lusoria is the most common anomaly of the aortic arch with an incidence of 0.5%–2.5%. It is mostly diagnosed incidentally while performing imaging for evaluation of other unrelated medical conditions. The aberrant right subclavian artery arises beyond the origin of the left subclavian artery from the aortic arch. This results in a complex right‐subclavian‐aortic anatomy which leads to difficulty in transradial coronary angiography. This can lead to prolonged procedure time and increased use of catheters by unaware interventionists. This is even more important if this is encountered in the setting of an acute myocardial infarction. Our review takes into account clinical significance of this uncommon anomaly in the field of interventional cardiology.     

Teaching & Learning Tips 4: Motivation and emotion in learning

Challenge: Trainees’ motivational and emotional states can influence their learning and career decisions, but historically these “affective” learning factors have received little attention in medical education. In this “Tips” piece, we outline strategies to positively influence trainees’ intrinsic motivation and emotion toward their training to ultimately enhance their overall learning experience.     

Laparoscopy for living donor left nephrectomy: Comparison of three‐dimensional and two‐dimensional vision

The main objective of this preliminary study was to evaluate the feasibility and safety of 3‐D laparoscopic living donor left nephrectomy (LDLN). The secondary objective was to compare intraoperative and postoperative outcomes between 3‐D and 2‐D laparoscopic LDLN. All patients who underwent a laparoscopic LDLN from January 2015 to April 2018 in a university center were included. All surgeries were performed by three experienced surgeons. Seventy three patients were included the following: 16 underwent a 3‐D laparoscopic LDLN (3‐D group), and 57 underwent a 2‐D laparoscopic LDLN (2‐D group). Operative time and warm ischemia time (WIT) were significantly lower in the 3‐D group (operative time: 80.9 ± 10.2 vs 114.1 ± 32.3 minutes in the 3‐D and 2‐D groups, P = .0002) (WIT: 1.7 ± 0.6 vs 2.3 ± 0.9 minutes in the 3‐D and 2‐D groups, P = .02). No conversion to open surgery occurred in both groups. Length of hospital stay was significantly shorter in the 3‐D group. No major postoperative complications (Clavien ≥ III) occurred. One‐year postoperative GFR was similar to 3‐D and 2‐D groups. Our preliminary study demonstrates that 3‐D laparoscopic LDLN is a feasible and safe surgical procedure. Intraoperative and postoperative outcomes were similar in both 2‐D and 3‐D vision systems, but 3‐D vision systems allow reduction in WIT and operative time.     

Restoration of blood pH between repeated bouts of high-intensity exercise: effects of various active-recovery protocols

To determine which active-recovery protocol would reduce faster the high blood H⁺ and lactate concentrations produced by repeated bouts of high-intensity exercise (HIE). On three occasions, 11 moderately trained males performed 4 bouts (1.5 min) at 163% of their respiratory compensation threshold (RCT) interspersed with active-recovery: (1) 4.5 min pedalling at 24% RCT (S_HORT); (2) 6 min at 18% RCT (M_EDIUM); (3) 9 min at 12% RCT (L_ONG). The total work completed during recovery was the same in all three trials. Respiratory gases and arterialized-blood samples were obtained during exercise. At the end of exercise, L_ONG in comparison to S_HORT and M_EDIUM increased plasma pH (7.32 ± 0.02 vs. ~7.22 ± 0.03; P < 0.05), while reduced lactate concentration (8.5 ± 0.9 vs. ~10.9 ± 0.8 mM; P < 0.05). Ventilatory equivalent for CO₂ was higher in L_ONG than S_HORT and M_EDIUM (31.4 ± 0.5 vs. ~29.6 ± 0.5; P < 0.05). Low-intensity prolonged recovery between repeated bouts of HIE maximized H⁺ and lactate removal likely by enhancing CO₂ unloading.     

Initial treatment patterns over time for anaplastic oligodendroglial tumors

Anaplastic oligodendroglial tumors are rare neoplasms with no standard approach to treatment. We sought to determine patterns of treatment delivered over time and identify clinical correlates of specific strategies using an international retrospective cohort of 1013 patients diagnosed from 1981-2007. Prior to 1990, most patients received radiotherapy (RT) alone as initial postoperative treatment. After 1990, approximately 50% of patients received both RT and chemotherapy (CT) sequentially and/or concurrently. Treatment with RT alone became significantly less common (67% in 1980-1984 vs 5% in 2005-2007, P < .0001). CT alone was more frequently administered in later years (0% in 1980-1984 vs 38% in 2005-2007; P < .0001), especially in patients with 1p19q codeleted tumors (57% of codeleted vs 4% with no deletion in 2005-2007; P < .0001). Temozolomide replaced the combination of procarbazine, lomustine, and vincristine (PCV) among patients who received CT alone or with RT (87% vs 2% in 2005-2007). In the most recent time period, patients with 1p19q codeleted tumors were significantly more likely to receive CT alone (with temozolomide), whereas RT with temozolomide was a significantly more common treatment strategy than either CT or RT alone in cases with no deletion (P < .0001). In a multivariate polytomous logistic regression model, the following were significantly associated with type of treatment delivered: date (5-year interval) of diagnosis (P < .0001), 1p19q codeletion (P < .0001), pure anaplastic oligodendroglioma histology (P < .01), and frontal lobe predominance (P < .05). Limited level 1 evidence is currently available to guide treatment decisions, and ongoing phase III trials will be critical to understanding the optimal therapy.