[A young woman with a weakening leg]. / En ung kvinne som mistet kraften i ett bein.

BACKGROUND: SOD1 mutations account for less than 25 % of cases with familial amyotrophic lateral sclerosis and may cause atypical phenotypes. CASE REPORT: A young woman developed progressive right ankle paresis that made running difficult after two years. Neurological examination revealed flaccid paresis of the right calf without fasciculations or sensory deficits. Electromyography displayed evidence of denervation restricted to the right calf. Sequencing of the SOD1 gene revealed an A > G mutation in nucleotide position 140, that causes substitution of arginine with histidine in amino acid position 46 (H46R). The patient's father had developed similar symptoms at the age of 60 but was still ambulant 5 years later. The patient's grandmother developed similar symptoms aged 40, and used a wheelchair for several years before she died in her nineties. None of the affected family members developed overt arm or bulbar pareses. CONCLUSION: The H46R SOD1 mutation in this case of familial amyotrophic lateral sclerosis causes a slowly progressive lower motor neuron disease that remains restricted to the legs for years or even decades.

Rotator cuff tears in proximal humeral fractures: an MRI cohort study in 76 patients.

BACKGROUND: The aim was to evaluate if concomitant injury to the rotator cuff is important for functional outcome in proximal humerus fractures, and to relate loss of function to malunion of the fractures. MATERIALS AND METHODS: A total of 76 patients treated conservatively for proximal humerus fracture were included in this cohort study. Performing an MRI: examination at the time of injury and after 12 months, tears of the rotator cuffs were classified as partial- or full thickness. The fractures were classified, according to the AO classification, and the degree of tubercle displacement and humeral head inclination evaluated at 12 months. Constant score was used as outcome measure. RESULTS: Magnetic resonance imaging (MRI) examinations confirmed 22 rotator cuff tears (four full thicknesses) diagnosed at the time of injury, and 10 additional tears (three full thicknesses) at one year. Functional loss at one year significantly corresponded to the tears at the time of injury (P = 0.004), varus malunion of the head and displacement of tubercles (P < 0.001). INTERPRETATION: Partial- as well as full thickness tears of the rotator cuff are important for functional outcome. Skeletal deterioration seems even more important.

Surgical treatment with an angular stable plate for complex displaced proximal humeral fractures in elderly patients: a randomized controlled trial.

OBJECTIVE: The objective of the study was to evaluate functional outcome, patient self-assessment, and radiographic outcome at 1 year in displaced three- and four-part proximal humeral fractures (OTA group 11-B2 and 11-C2). DESIGN: Randomized controlled trial. SETTING: Academic medical center. PATIENTS/PARTICIPANTS: Fifty patients aged 60 years or older with displaced three- or four-part proximal humeral fractures and no previous shoulder injuries were randomized either to surgical treatment or to conservative closed treatment. Twenty-five patients were included in each group. Forty-eight patients completed 12-month follow-up. Two surgical patients died within 3 months. INTERVENTION: The surgically treated group had a standardized surgical treatment with open reduction and internal fixation using an angular stable plate and cerclages. Instructed physical therapy started the third postoperative day. The conservative treatment group had a standardized nonoperative treatment that included closed reduction if displacement between the head and metaphyseal shaft fragment exceeded 50% of the diaphyseal diameter. Physical therapy started on the fifteenth postoperative day. MAIN OUTCOME MEASUREMENTS: The main outcome was the mean difference in Constant score between the injured and noninjured shoulder at 12 months. The secondary outcomes were patient self-assessment (American Shoulder and Elbow Surgeons score) and radiographic ratings at 12 months. RESULTS: At 12 months, mean Constant scores favored conservative treatment by 2.4 points (nonsignificant; P = 0.62). There was no significant difference in mean patient self-assessment. However, radiographic outcomes were significantly better for surgically treated patients. CONCLUSION: There is no evidence of a difference in functional outcome at 1-year follow-up between surgical treatment and conservative treatment of displaced proximal humeral fractures in elderly patients.

The effects of long-term oral benfotiamine supplementation on peripheral nerve function and inflammatory markers in patients with type 1 diabetes: a 24-month, double-blind, randomized, placebo-controlled trial.

OBJECTIVE: To study the effects of long-term oral benfotiamine supplementation on peripheral nerve function and soluble inflammatory markers in patients with type 1 diabetes. RESEARCH DESIGN AND METHODS: The study randomly assigned 67 patients with type 1 diabetes to receive 24-month benfotiamine (300 mg/day) or placebo supplementation. Peripheral nerve function and levels of soluble inflammatory variables were assessed at baseline and at 24 months. RESULTS: Fifty-nine patients completed the study. Marked increases in whole-blood concentrations of thiamine and thiamine diphosphate were found in the benfotiamine group (both P < 0.001 vs. placebo). However, no significant differences in changes in peripheral nerve function or soluble inflammatory biomarkers were observed between the groups. CONCLUSIONS: Our findings suggest that high-dose benfotiamine (300 mg/day) supplementation over 24 months has no significant effects upon peripheral nerve function or soluble markers of inflammation in patients with type 1 diabetes.