Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant

Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized with lower extremity muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) in a 21-month-old female patient with a more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex congenita, absent deep tendon reflexes, respiratory insufficiency, and cerebral depression. The variant p.Leu554Pro is located just outside of a domain that interacts with the motor protein KIF5A. The detailed neuro-phenotyping and clinical course presented here expand the understanding of BICD2 related disease

Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant

Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized with lower extremity muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) in a 21-month-old female patient with a more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex congenita, absent deep tendon reflexes, respiratory insufficiency, and cerebral depression. The variant p.Leu554Pro is located just outside of a domain that interacts with the motor protein KIF5A. The detailed neuro-phenotyping and clinical course presented here expand the understanding of BICD2 related disease

Diagnosis and treatment of post-traumatic hypothermia in hospitals : a pilot study

Background: An unintentional drop in core body temperature of trauma victims is associated with increased mortality. Thermoregulation is impaired in these patients, especially when treated with opioids or anesthetics. Careful thermal insulation and active warming are necessary to maintain normothermia. The aim of the study was to assess the equipment and procedures for diagnosing and managing post-traumatic hypothermia in Polish hospitals. Methods: Survey forms regarding equipment and procedures on monitoring of core temperature (Tc) and active warming were distributed to every hospital that admits trauma victims in the Holy Cross Province. Questionnaires were addressed to surgery departments, intensive care units (ICUs), and operating rooms (ORs). Results: 92% of surgery departments did not have equipment to measure core body temperature and 85% did not have equipment to rewarm patients. Every ICU had equipment to measure Tc and 83% had active warming devices. In 50% of ICUs, there were no rewarming protocols based on Tc and the initiation of rewarming was left to the physician’s discretion. In 58% of ORs, Tc was not monitored and in 33% the patients were not actively warmed. Conclusions: The majority of surveyed ICUs and ORs are adequately equipped to identify and treat hypothermia, however the criteria for initiating Tc monitoring and rewarming remain unstandardized. Surgery departments are not prepared to manage post-traumatic hypothermia

IMB Detector‐The first 30 Days

A large water Chernekov detector, located 2000 feet below ground, has recently been turned on. The primary purpose of the device is to measure nucleon stability to limits 100 times better than previous measurements. The properties of the detector are described along with its operating characteristics.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/87428/2/138_1.pd

Comparative evaluation of methods for estimating retinal ganglion cell loss in retinal sections and wholemounts

To investigate the reliability of different methods of quantifying retinal ganglion cells (RGCs) in rat retinal sections and wholemounts from eyes with either intact optic nerves or those axotomised after optic nerve crush (ONC). Adult rats received a unilateral ONC and after 21 days the numbers of Brn3a+ , bIII-tubulin+ and Islet-1+ RGCs were quantified in either retinal radial sections or wholemounts in which FluoroGold (FG) was injected 48 h before harvesting. Phenotypic antibody markers were used to distinguish RGCs from astrocytes, macrophages/microglia and amacrine cells. In wholemounted retinae, counts of FG+ and Brn3a+ RGCs were of similar magnitude in eyes with intact optic nerves and were similarly reduced after ONC. Larger differences in RGC number were detected between intact and ONC groups when images were taken closer to the optic nerve head. In radial sections, Brn3a did not stain astrocytes, macrophages/microglia or amacrine cells, whereas βIII-tubulin and Islet-1 did localize to amacrine cells as well as RGCs. The numbers of βIII-tubulin+ RGCs was greater than Brn3a+ RGCs, both in retinae from eyes with intact optic nerves and eyes 21 days after ONC. Islet-1 staining also overestimated the number of RGCs compared to Brn3a, but only after ONC. Estimates of RGC loss were similar in Brn3astained radial retinal sections compared to both Brn3a-stained wholemounts and retinal wholemounts in which RGCs were backfilled with FG, with sections having the added advantage of reducing experimental animal usage