The association between hand grip strength and rehabilitation outcome in post-acute hip fractured patients.

PURPOSE: Various factors have been shown to affect the rehabilitation outcome of hip fractured patients. Considering the decrease in muscle mass with aging and its impact on mobility, we hypothesized that a relationship exists between hand grip strength and rehabilitation outcome. METHODS: We retrospectively studied 373 post-hip fracture patients, admitted for rehabilitation. Muscle strength was measured by hand grip dynamometer. MAIN OUTCOME MEASURES: functional independence measure motor functional independence measure, motor functional independence measure effectiveness and length of stay). A favorable functional gain was defined as a motor Functional Independence Measure effectiveness score > 0.5. The Spearman correlation assessed the associations between hand grip strength and outcome measures. A multiple linear regression model tested whether hand grip strength was an independent predictor of discharge motor Functional Independence Measure scores and length of stay RESULTS: Significant correlations were found between hand grip strength and functional outcomes. A significant independent association was found between hand grip strength and discharge motor Functional Independence Measure score after adjustment for confounding demographic and clinical variables. High hand grip strength on admission was significantly associated with a greater chance of achieving a favorable functional gain (OR 1.064, 95% CI, 1.01-1.13; p = 0.032). Hand grip strength was not found to be associated with length of stay. CONCLUSION: Hand grip strength is independently associated with rehabilitation outcome in post-acute frail hip fractured patients. Initial screening for hand grip strength on admission may help identify patients who require an intensive resistance exercise program.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Intellectual disability (ID) affects 1%-3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the +/jc to jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

BACKGROUND: This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death, and the identification of a gene involved in the pathogenesis of the disease. METHODS: Homozygosity mapping was performed using Affymetrix Human Mapping 250k NspI arrays. Sequencing of all coding exons of the candidate genes was performed with primer sets designed using the Primer3 program. Fluorescence activated cell sorting was performed using conjugated antibody to CD59. Staining, acquisition and analysis were performed on a FACSCalibur flow cytometer. RESULTS: Using homozygosity mapping, the study mapped the disease locus to 18q21.32-18q22.1 and identified the disease-causing mutation, c.2126G→A (p.Arg709Gln), in PIGN, which encodes glycosylphosphatidylinositol (GPI) ethanolamine phosphate transferase 1, a protein involved in GPI-anchor biosynthesis. Arginine at the position 709 is a highly evolutionarily conserved residue located in the PigN domain. The expression of GPI linked protein CD59 on fibroblasts from patients as compared to that in a control individual showed a 10-fold reduction in expression, confirming the pathogenic consequences of the mutation on GPI dependent protein expression. CONCLUSIONS: The abundant expression of PIGN in various tissues is compatible with the diverse phenotypic features observed in the patients and with the involvement of multiple body systems. The presence of developmental delay, hypotonia, and epilepsy combined with multiple congenital anomalies, especially anorectal anomalies, should lead a clinician to suspect a GPI deficiency related disorder.

Vitamin D levels in post-acute hip fractured patients and their association with rehabilitation outcomes.

PURPOSE: To report on serum 25-hydroxyvitamin D (25(OH)D) levels in post-acute hip fractured patients, revealed the associations between serum 25(OH)D levels and hip fractured patients' baseline characteristics and rehabilitation outcomes. MATERIALS AND METHODS: A retrospective study (9/2017-9/2020) of 493 hip fractured patients. 25(OH)D levels were recorded following the patient's baseline characteristics and outcome measures, including the functional independence measure and motor functional independence measure effectiveness. The sample was divided into three groups: deficient (<30 nmol/l), insufficient (30-75 nmol/l) and sufficient (>75 nmol/l) 25(OH)D levels. ANOVA and chi-square test tests compared the groups. Multiple linear analysis assessed the associations between the 25(OH)D and discharge functional independence measure score. RESULTS: 25(OH)D deficiency was found in 20.3% of the patients. The only baseline characteristic significantly associated with serum 25(OH)D levels was dementia. The group with deficient levels of 25(OH)D exhibited a significantly higher rate of low education, low admission albumin levels and a reduced handgrip strength compared to the insufficient/sufficient groups. All functional measure scores were significantly lower in the deficient (25(OH)D) group compared with the insufficient/sufficient patient groups. 25(OH)D levels were found to be significantly associated with the discharge functional independence measure score. CONCLUSIONS: Routine screening for 25(OH)D levels is mandatory in post-acute hip fracture patients as it may affect rehabilitation outcomes.Implications for Rehabilitation25-hydroxyvitamin D 25(OH)D levels are associated with rehabilitation outcomes in post-acute hip fractured patients.A routine screening for 25(OH)D levels and standardized supplementation protocol during the acute and post-acute rehabilitation setting is recommended as it may improve the quality of care.