The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3

We have examined acetaminophen (paracetamol) dosing for outpatient management of posttonsillectomy pain in children. Forty children, 5-15 years of age, undergoing tonsillectomy and their parents were randomly assigned to use a scheduled administration of acetaminophen in weight appropriate doses, 60 mg.kg-1.24h-1 orally, 90 mg.kg-1.24h-1 rectally, or to use acetaminophen 'as needed' according to present standards (control group). Postoperative pain was assessed by the child using the poker chip tool for the first three days after discharge. The prevalence of pain amongst all the children was high. The second day after discharge 22%-64% of the children in the study group and 36%-73% of the children in the control group rated severe pain. Recommended dose ranges of acetaminophen do not provide sufficient pain relief in children following tonsillectomy. Further studies are required to determine, whether higher doses of acetaminophen or analgesics with different analgesic properties will lead to improved analgesia in children following tonsillectomy.     

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped between D5S629 and D5S557. We report here a new single-locus microsatellite A31 (D5S823) and two multicopy microsatellites 97T-CA and 95/23-CA. The marker A31 maps to the region of overlap between YACs y116, y55 and y122, distal to D5S629; 97T-CA originates from a cosmid corresponding to the STS 97T, localized distally to A31, while 95/23-CA derives from a cosmid corresponding to the STS 97U, localized proximally to D5S557. We tested all our key recombinant families with these markers. In one type I/II SMA family, a recombinant was found that placed the SMA locus distal to D5S823. Homozygosity mapping in a consanguineous type I SMA family indicates that the SMA gene lies proximal to 95/23-CA. Thus, the two new markers, A31 and 95/23-CA further refine the SMA gene to an approximately 750-kb interval.     

Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31

BACKGROUND: Cortical reaming and intramedullary nail insertion injure the medullary vascular system. Little attention has been directed toward quantitative assessment of bone injury and repair after locked intramedullary nailing of long-bone fractures with and without reaming. The effects of reamed versus unreamed locked intramedullary nailing on cortical porosity and new bone formation were compared in a sheep fractured tibia model. METHODS: After creation of a standardized spiral fracture by three-point bending with torsion, each tibia was stabilized by insertion of a locked intramedullary nail. Ten sheep were randomized into two groups, one that had reaming before nail insertion and one that did not. Fluorochromes were given 2 weeks (xylenol orange), 6 weeks (calcein green), and 12 weeks (tetracycline) postoperatively. All animals were killed at 12 weeks postoperatively. Cortical porosity and new bone formation were determined for the proximal diaphysis, fracture site, and distal diaphysis. RESULTS: Overall cortical porosity was greater with reamed nails than with unreamed nails (p = 0.02). Porosity in the inner cortex (18.3% (reamed) vs. 14.3% (unreamed); p = 0.09) and outer cortex (16.8% (reamed) vs. 12.2% (unreamed); p = 0.04) was greater in the reamed group. With reamed nails only, there was less new bone formation at 2 (p = 0.04) and 12 (p = 0.05) weeks in the inner cortex compared with the central cortex and outer cortex. Overall, there was no difference between reamed and unreamed nails in the amount of new bone formation at 2, 6, or 12 weeks. CONCLUSIONS: This study demonstrates that greater injury or overall cortical porosity is associated with reamed nail insertion. There is no difference, however, between the amount of new bone formation after reamed and unreamed nail insertion. Nail insertion without reaming may be initially advantageous when tibial cortical vascularity is compromised, by limiting further injury to cortical bone. This may be important with open tibial fractures in which there is a significant risk of infection after injury. Between 2 and 12 weeks after injury, neither reamed nor unreamed nail insertion seems to have a significant advantage with respect to the amount of new bone formation that occurs.