Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes

A 2.8-Mb 4p16.3 terminal deletion, with proximal breakpoint at locus D4S182, was diagnosed by FISH in a 16-year-old boy who presented with a typical Wolf-Hirschhorn syndrome (WHS) phenotype. The deletion, which was maternally derived, was isolated, and a balanced translocation was ruled out in both parents by FISH with probe 33c6 (locus D4S43) falling within the patient's deletion interval, at a distance of about 2.3 Mb from the telomere. His older brother, who died from pneumonia at the age of 18 years, also presented with clinical signs consistent with WHS, including typical facial appearance and major malformations, but the genetic test was not performed. A smaller 4p deletion, spanning the 1.5 Mb region from locus D4S96 to the telomere was detected in the healthy mother. When critically analyzed, after the FISH results, she was noted to present with partial WHS facial "gestalt," borderline mental delay, a few episodes of seizures as a child, normal weight and head circumference, and height at the lower limit of normal range. This report highlights a previously undescribed mechanism of familial recurrence of a microdeletion syndrome. Potential meiotic amplification is to be considered for different subtelomeric deletions that are currently interpreted as population polymorphisms. At the same time, the present report adds new insights to mapping some peculiar WHS clinical signs, such as seizures and severe growth delay.     

Effectiveness of Self-Hypnosis on the Relief of Experimental Dental Pain: A Randomized Trial

This randomized, controlled clinical trial evaluates the effectiveness of self-hypnosis on pain perception. Pain thresholds were measured, and a targeted, standardized pain stimulus was created by electrical stimulation of the dental pulp of an upper anterior tooth. Pain stimulus was rated by a visual analogue scale (VAS). The pain threshold under self-hypnosis was higher (57.1 ± 17.1) than without hypnotic intervention (39.5 ± 11.8) (p < .001). Pain was rated lower on the VAS with self-hypnosis (4.0 ± 3.8) than in the basal condition without self-hypnosis (7.1 ± 2.7) (p < .001). Self-hypnosis can be used in clinical practice as an adjunct to the gold standard of local anesthesia for pain management, as well as an alternative in individual cases.     

Hypnosis and Local Anesthesia for Dental Pain Relief—Alternative or Adjunct Therapy?—A Randomized,Clinical-Experimental Crossover Study

This prospective randomized clinical crossover trial was designed to compare hypnosis and local anesthesia for experimental dental pain relief. Pain thresholds of the dental pulp were determined. A targeted standardized pain stimulus was applied and rated on the Visual Analogue Scale (0–10). The pain threshold was lower under hypnosis (58.3 ± 17.3, p < .001), maximal (80.0) under local anesthesia. The pain stimulus was scored higher under hypnosis (3.9 ± 3.8) than with local anesthesia (0.0, p < .001). Local anesthesia was superior to hypnosis and is a safe and effective method for pain relief in dentistry. Hypnosis seems to produce similar effects observed under sedation. It can be used in addition to local anesthesia and in individual cases as an alternative for pain control in dentistry.     

Oval and round window vibroplasty: a comparison of hearing results,risks and failures

The aim of this study was to compare oval and round window vibroplasty. Eighteen (18) patients implanted with Vibrant Soundbridge (VSB) were enrolled. Two groups were formed depending on FMT placement: on round window in ten cases (RW group) and on oval window in eight (OW group). Pre and postoperative audiological tests were performed both under headphones and free-field settings, VSB on and off. One (1) RW patient experienced sudden hearing loss at the operated side after 4 months from surgery and was excluded from the analysis. Both groups showed good hearing results. Significant differences were measured at free-field pure-tone test with VSB on at 0.5 kHz (RW better than OW, p = 0.026) and 4 kHz (OW better than RW, p = 0.043). Both techniques share similar good results and are considered safe. However, we had one failure with deep and sudden hearing threshold worsening after some months of good results. From a surgical point of view OW vibroplasty is easier and safer to perform, when the stapes suprastructure is absent, as it does not require any drilling and should be preferred in such cases. More reports are needed to explain if RW vibroplasty is risky in a mid to long term.     

Erdheim-Chester disease: imaging-guided therapeutic approach

Erdheim-Chester disease (ECD) is a rare form of systemic non-Langerhans cell histiocytosis with characteristic bone involvement. However, extraskeletal involvement occurs in approximately half of the patients. Because of its protean findings, the diagnosis of ECD is often delayed; thus, a clinical suspicion may prompt specific imaging studies to recognize suggestive signs of organ involvement. In this study, a case of a patient with ECD with representative progressive multisystemic involvement has been reported; although the final diagnosis was confirmed by histologic analysis, imaging studies with almost pathognomonic findings guided the diagnostic process and prompted different therapeutic approaches according to the localization of the disease.     

Galician consensus on management of cardiotoxicity in breast cancer: risk factors,prevention, and early intervention

This Galician consensus statement is a joint oncologists/cardiologists initiative indented to establish basic recommendations on how to prevent and to manage the cardiotoxicity in breast cancer with the aim of ensuring an optimal cardiovascular care of these patients. A clinical screening of the patients before treatment is recommended to stratify them into a determined risk group based on their intrinsic cardiovascular risk factors and those extrinsic arose from breast cancer therapy, thereby providing individualized preventive and monitoring measures. Suitable initial and ongoing assessments for patients with low and moderate/high risk and planned treatment with anthracyclines and trastuzumab are given; also, measures aimed at preventing and correcting any modifiable risk factor are pointed out .