Loss of Shp2 Rescues BDNF/TrkB Signaling and Contributes to Improved Retinal Ganglion Cell Neuroprotection

1. Download high-res image (255KB)
2. Download full-size image

     

Proprioception,dynamic balance and maximal quadriceps strength in females with knee osteoarthritis and normal control subjects

Background: Osteoarthritis (OA) is one of the most common musculoskeletal complaints worldwide. The knee is the most frequently involved joint of the lower limb in OA. Knee joint proprioception, dynamic balance and maximal quadriceps strength may be impaired in patients with knee OA. Objective: To investigate whether females with knee OA have reduced knee joint proprioception, balance responses and quadriceps strength compared with normal controls. Methods: We undertook a cross‐sectional study of 30 females with knee OA and 30 controls. Knee joint proprioception was measured using electrogoniometer. Dynamic balance response was determined using a step test. Quadriceps strength was measured isometrically using a modified Tornvall chair. Results: Subjects with OA had greater mean error, poorer dynamic balance and less quadriceps strength than non‐symptomatic ones (P < 0.001). Increasing age was associated with a decline in proprioceptive acuity for both controls and patients (r = 0.40, P < 0.001). In subjects with knee OA, decreased dynamic balance was associated with increasing weight (r = 0.30, P < 0.001) and reduced quadriceps strength (r = –0.37, P = 0.002). Conclusion: Compared with age and sex‐matched controls, females with symptomatic knee OA have reduced knee proprioception, balance responses and quadriceps strength.     

GJB2 c.−23+1G&gt;A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss

GJB2 mutation analysis is used routinely as a first step in genetic testing for autosomal recessive non-syndromic sensorineural hearing loss. Although most GJB2 mutations can be detected by sequencing of the exon 2 of this gene, a prevalent splice mutation, c.?23+1G>A (IVS1+1G>A), is not usually included in the analyzed region. In this study, we have developed an ARMS-PCR strategy for detection of this mutation among Iranian deaf individuals. A total of 418 Iranian individuals with hearing loss consistent with autosomal recessive non-syndromic sensorineural hearing loss based on audiological test result, medical history, physical examination and pedigree of the family, were included in this study. c.35delG and c.?23+1G>A mutations were detected by using ARMS-PCR. Direct sequencing of the exon 2 of the GJB2 gene was performed for mutation analysis of the coding region of this gene. Among 418 investigated cases, a total of 81 patients (~19.4 %) with biallelic pathogenic mutations in the GJB2 gene and 13 cases with only one pathogenic mutant allele were identified. The total allele frequencies of the two most frequent mutations, c.35delG and c.?23+1G>A, among mutated alleles were found to be around 59 and 15.7 %, respectively. High frequency of the c.35delG and c.?23+1G>A mutations among Iranian deaf individuals shows the importance of developing rapid and cost-effective methods for primary mutation screening methods before performing direct sequencing.     

Assessment of multiphasic contrast-enhanced MR textures in differentiating small renal mass subtypes

Abdominal Radiology - This study seeks to evaluate the use of quantitative texture parameters extracted from multiphasic contrast-enhanced magnetic resonance (MR) imaging in differentiating between...     

Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation

A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a tender guarded abdomen, no icterus, and bilateral corneal “arcus senilis”-like changes. Laboratory workup showed a mild normocytic, normochromic anemia; and target cells were seen in the peripheral blood smear. Serum was turbid; and the lipid profile showed elevated total cholesterol, low high-density lipoprotein cholesterol, and elevated triglycerides. Urinalysis revealed nephrotic range proteinuria with microhematuria. An abdominal computed tomographic scan demonstrated a homogeneously enlarged spleen. The patient was discharged after symptomatic treatment to be followed as an ambulatory patient. Several days later, he returned with severe left upper quadrant pain and was admitted to the surgical service for further evaluation. A splenectomy was performed for a suspected splenic lymphoma. Upon gross examination, spleen was moderately enlarged, weighing 780 g. Sectioning revealed a beefy red cut surface without gross lesions. Wright-Giemsa-stained touch imprints showed many sea-blue histiocytes. A renal biopsy was also performed, demonstrating focal segmental glomerular sclerosis and mesangial expansion with extramembranous and intramembranous deposition of lipids. In the absence of hematologic malignancy and in light of the abnormal lipid profile, a disorder of lipid metabolism was suspected. Histologic and ultrastructural findings in the kidney and spleen raised the likelihood of lecithin-cholesterol acyltransferase (LCAT) deficiency, which was confirmed by the markedly decreased serum LCAT activity and serum LCAT mass. We describe a case with the triad of splenomegaly with sea-blue histiocytes, nephropathy, and dyslipidemia in a patient with LCAT deficiency.     

Apoptosis of human ovarian tissue is not increased by either vitrification or rapid cooling

This study evaluated the incidence of morphological changes, as assessed by light microscopy, and apoptosis in vitrified and rapidly cooled human ovarian tissue. Apoptosis was assessed 30 min and 24 h after warming using transmission electron microscopy, terminal deoxynucleotidyl transferase-mediated dUDP nick-end labelling (TUNEL) assay and DNA fragmentation, as determined by gel electrophoresis. The results showed no significant changes in morphology, chromatin condensation, DNA fragmentation or TUNEL-positive cells in follicles attributable to cryopreservation or exposure to the cryoprotectant solutions alone. In conclusion, the cryopreservation protocols did not affect the incidence of apoptosis and either protocol could be an alternative to slow cooling of ovarian tissue.This study evaluated the incidence of morphological changes, as assessed by light microscopy, and apoptosis in human ovarian tissue cryopreserved using two different methods, i.e. vitrification and rapid cooling. Apoptosis was assessed in tissue 30 min and 24 h after warming using transmission electron microscopy and terminal deoxynucleotidyl transferase-mediated dUDP nick-end labelling (TUNEL) assay and DNA fragmentation as determined by gel electrophoresis. The results showed no significant changes in morphology, chromatin condensation, DNA fragmentation or TUNEL-positive cells in follicles attributable to cryopreservation or exposure to the cryopreservation solutions alone. In conclusion, the cryopreservation protocols did not affect the incidence of apoptosis in human ovarian tissue and either protocol could be an alternative to slow cooling for the preservation of ovarian tissue.     

Thrombolysis for Massive Pulmonary Embolism in Pregnancy

Pregnant women are at high risk for venous thromboembolism, including pulmonary embolism (PE), given expected changes in coagulation, fibrinolysis, and venous blood flow. In fact, PE is the leading cause of maternal death in the United States. Nonpregnant patients who develop PE with hypotension or show signs of deterioration after anticoagulation receive thrombolytics as a standard of care. Pregnant women, however, have been excluded from clinical trials with thrombolytics, and all data available in this population are published as case reports or case series. We reviewed all reports of thrombolytics, systemic or catheter directed, used in pregnant patients with massive PE. This article summarizes the risks for thromboembolism in pregnancy, compares and contrasts thrombolytic agents in this setting, and provides a recommendation for management of massive PE in this special population. Overall, reports suggest that the use of these agents is associated with beneficial outcomes and a relatively low risk of complications. The quality of this evidence is low, and clinical judgment is required to assess individual patients for risks versus benefits of thrombolysis.     

A simple risk score for early ischemic stroke mortality derived from National Institutes of Health Stroke Scale: A discriminant analysis

Objectives

The aim of the current study was to design a new simpler form of National Institutes of Health Stroke Scale (NIHSS) for use in emergency settings, and compare its predictive ability with original NIHSS score for mortality.

Methods

A total of 152 consecutive patients with first ever ischemic stroke admitted to a university affiliated hospital were recruited. NIHSS score on admission was estimated and the predictive ability of NIHSS items for mortality at 28 days was evaluated by logistic regression. Stepwise discriminant analysis was performed on NIHSS items to obtain a discriminant function with the best discriminative ability for mortality. Further, receiver operating characteristics (ROC) curves were depicted to compare the new determined discriminant function with the original NIHSS score.

Results

Cumulative rate of mortality was 11.8% for 28-day follow-up period. Among NIHSS items, scores of visual field, limb ataxia and extinction neglect were not associated with mortality (P > 0.05). On the contrary, level of consciousness-commands, language and gaze were determined as independent indicators of mortality (P < 0.05), and their coefficients on discriminant function were equal to 0.65, 0.44 and 0.30, respectively. In addition, area under the ROC curve of the calculated discriminant function was not statistically different from NIHSS score (P > 0.05).

Conclusions

The suggested discriminant function, comprising NIHSS items of level of consciousness-commands, language and gaze, can predict 28-day mortality after ischemic stroke in a similar way to the original NIHSS score and can provide a baseline for stroke severity in emergency settings.