Coarctation of the Aorta in Infants Under One Year of Age

During the 10-year period 1962 - 1971, coarctation of the aorta was diagnosed within the first 5 months of life in 35 hospital cases. Of these, 29 (83%) were symptomatic, and 18 (54%) underwent surgery to correct the coarctation. Thirteen of the 18 patients (72%) survived the procedure. Of the 5 patients who died, 2 had single-ventricle complexes, and 1 had an associated ventricular septal defect and died at a subsequent operation for pulmonary artery banding. One patient who survived had a thoracotomy with no procedure done to the aorta. All survivors were followed up for at least 1 year. Residual gradients were found in 6 of the 12 patients (50%), but classified as severe in only 2 cases. Of the 11 patients who were symptomatic but who did not undergo surgery, 7 died (mortality 63%). There were 6 remaining patients who were asymptomatic. There have been 3 deaths in this series-all unrelated to their cardiac pathology. It is strongly recommended that young babies with coarctation of the aorta, who develop congestive cardiac failure, undergo 36 - 48 hours of medical therapy, after which surgical resection of the coiucted segment is carried out. This approach offers the best prospects for survival.S. Afr. Med. J., 48, 397 (1974

Effects of a robot-assisted training of grasp and pronation/supination in chronic stroke: a pilot study

<p>Abstract</p> <p>Background</p> <p>Rehabilitation of hand function is challenging, and only few studies have investigated robot-assisted rehabilitation focusing on distal joints of the upper limb. This paper investigates the feasibility of using the <it>HapticKnob</it>, a table-top end-effector device, for robot-assisted rehabilitation of grasping and forearm pronation/supination, two important functions for activities of daily living involving the hand, and which are often impaired in chronic stroke patients. It evaluates the effectiveness of this device for improving hand function and the transfer of improvement to arm function.</p> <p>Methods</p> <p>A single group of fifteen chronic stroke patients with impaired arm and hand functions (Fugl-Meyer motor assessment scale (FM) 10-45/66) participated in a 6-week 3-hours/week rehabilitation program with the <it>HapticKnob</it>. Outcome measures consisted primarily of the FM and Motricity Index (MI) and their respective subsections related to distal and proximal arm function, and were assessed at the beginning, end of treatment and in a 6-weeks follow-up.</p> <p>Results</p> <p>Thirteen subjects successfully completed robot-assisted therapy, with significantly improved hand and arm motor functions, demonstrated by an average 3.00 points increase on the FM and 4.55 on the MI at the completion of the therapy (4.85 FM and 6.84 MI six weeks post-therapy). Improvements were observed both in distal and proximal components of the clinical scales at the completion of the study (2.00 FM wrist/hand, 2.55 FM shoulder/elbow, 2.23 MI hand and 4.23 MI shoulder/elbow). In addition, improvements in hand function were observed, as measured by the Motor Assessment Scale, grip force, and a decrease in arm muscle spasticity. These results were confirmed by motion data collected by the robot.</p> <p>Conclusions</p> <p>The results of this study show the feasibility of this robot-assisted therapy with patients presenting a large range of impairment levels. A significant homogeneous improvement in both hand and arm function was observed, which was maintained 6 weeks after end of the therapy.</p

A Multi-institutional Study on Histopathological Characteristics of Surgically Treated Renal Tumors: the Importance of Tumor Size

PURPOSE: The incidence of accidentally detected small renal tumors is increasing throughout the world. In this multi-institutional study performed in Korea, histopathological characteristics of contemporarily surgically removed renal tumors were reviewed with emphasis on tumor size. MATERIALS and METHODS: Between January 1995 and May 2005, 1,702 patients with a mean age of 55 years underwent surgical treatment at 14 training hospitals in Korea for radiologically suspected malignant renal tumors. Clinicopathological factors and patient survival were analyzed. RESULTS: Of the 1,702 tumors, 91.7% were malignant and 8.3% were benign. The percentage of benign tumors was significantly greater among those 4cm (4.5%) (p or = T3 was significantly less among tumors 4cm (26.8%) (p or = 3 was also significantly less among tumors 4cm (50.9%) (p < 0.001). The 5-year cancer-specific survival rate was 82.7%, and T stage (p < 0.001), N stage (p < 0.001), M stage (p = 0.025), and Fuhrman's nuclear (p < 0.001) grade were the only independent predictors of cancer-specific survival. CONCLUSION: In renal tumors, small tumor size is prognostic for favorable postsurgical histopathologies such as benign tumors, low T stages, and low Fuhrman's nuclear grades. Our observations are expected to facilitate urologists to adopt function-preserving approach in the planning of surgery for small renal tumors with favorable predicted outcomes.ope

Caretaker Brca1: keeping the genome in the straight and narrow

Inheritance of germline BRCA1 mutations is associated with a high risk of breast and ovarian cancers. A multitude of cellular functions has been ascribed to BRCA1, including transcription activation and various aspects of DNA repair. So far, indirect evidence has indicated a role for BRCA1 in the repair of double-strand breaks. Recently, an elegant gene targeting design was used to provide definitive evidence that BRCA1 promotes homologous recombination and limits nonhomologous mutagenic repair processes. This reaffirms the role of BRCA1 as caretaker in preserving genomic integrity

Analysis of skeletal muscle function in the C57BL6/SV129 syncoilin knockout mouse

Syncoilin is a 64-kDa intermediate filament protein expressed in skeletal muscle and enriched at the perinucleus, sarcolemma, and myotendinous and neuromuscular junctions. Due to its pattern of cellular localization and binding partners, syncoilin is an ideal candidate to be both an important structural component of myocytes and a potential mediator of inherited myopathies. Here we present a report of a knockout mouse model for syncoilin and the results of an investigation into the effect of a syncoilin null state on striated muscle function in 6–8-week-old mice. An analysis of proteins known to associate with syncoilin showed that ablation of syncoilin had no effect on absolute expression or spatial localization of desmin or alpha dystrobrevin. Our syncoilin-null animal exhibited no differences in cardiotoxin-induced muscle regeneration, voluntary wheel running, or enforced treadmill exercise capacity, relative to wild-type controls. Finally, a mechanical investigation of isolated soleus and extensor digitorum longus indicated a potential differential reduction in muscle strength and resilience. We are the first to present data identifying an increased susceptibility to muscle damage in response to an extended forced exercise regime in syncoilin-deficient muscle. This study establishes a second viable syncoilin knockout model and highlights the importance of further investigations to determine the role of syncoilin in skeletal muscle

Benefit of enactment over oral repetition of verbal instruction does not require additional working memory during encoding

For this research, we used a dual-task approach to investigate the involvement of working memory in following written instructions. In two experiments, participants read instructions to perform a series of actions on objects and then recalled the instructions either by spoken repetition or performance of the action sequence. Participants engaged in concurrent articulatory suppression, backward-counting, and spatial-tapping tasks during the presentation of the instructions, in order to disrupt the phonological-loop, central-executive, and visuospatial-sketchpad components of working memory, respectively. Recall accuracy was substantially disrupted by all three concurrent tasks, indicating that encoding and retaining verbal instructions depends on multiple components of working memory. The accuracy of recalling the instructions was greater when the actions were performed than when the instructions were repeated, and this advantage was unaffected by the concurrent tasks, suggesting that the benefit of enactment over oral repetition does not cost additional working memory resource

Myosin VIIA, Important for Human Auditory Function, Is Necessary for Drosophila Auditory Organ Development

BACKGROUND: Myosin VIIA (MyoVIIA) is an unconventional myosin necessary for vertebrate audition [1]-[5]. Human auditory transduction occurs in sensory hair cells with a staircase-like arrangement of apical protrusions called stereocilia. In these hair cells, MyoVIIA maintains stereocilia organization [6]. Severe mutations in the Drosophila MyoVIIA orthologue, crinkled (ck), are semi-lethal [7] and lead to deafness by disrupting antennal auditory organ (Johnston's Organ, JO) organization [8]. ck/MyoVIIA mutations result in apical detachment of auditory transduction units (scolopidia) from the cuticle that transmits antennal vibrations as mechanical stimuli to JO. PRINCIPAL FINDINGS: Using flies expressing GFP-tagged NompA, a protein required for auditory organ organization in Drosophila, we examined the role of ck/MyoVIIA in JO development and maintenance through confocal microscopy and extracellular electrophysiology. Here we show that ck/MyoVIIA is necessary early in the developing antenna for initial apical attachment of the scolopidia to the articulating joint. ck/MyoVIIA is also necessary to maintain scolopidial attachment throughout adulthood. Moreover, in the adult JO, ck/MyoVIIA genetically interacts with the non-muscle myosin II (through its regulatory light chain protein and the myosin binding subunit of myosin II phosphatase). Such genetic interactions have not previously been observed in scolopidia. These factors are therefore candidates for modulating MyoVIIA activity in vertebrates. CONCLUSIONS: Our findings indicate that MyoVIIA plays evolutionarily conserved roles in auditory organ development and maintenance in invertebrates and vertebrates, enhancing our understanding of auditory organ development and function, as well as providing significant clues for future research

Stress factors and stress management interventions: the heuristic of “bottom up” an update from a systematic review

Organizations have increasingly sought to adopt innovative interventions to prevent stress-related issues. In the field of manufacturing, however, the effectiveness of these interventions remains unclear because a systematic and specific review of existing primary evidence has not been undertaken. The present systematic literature review sought to address the foregoing limitation in the literature by summarizing the main source of stress and effectiveness of stress management interventions as grounded in the context of manufacturing. Our review was limited to only randomized clinical trials (RCTs) and quasi-experimental studies and concerned employees from the manufacturing sector. Twenty-two studies on primary, secondary and tertiary interventions across four continents (Asia, Europe, USA and South America) were selected and analyzed in terms of stress factors, methodological properties and outcomes. Most of these were RCT studies (68% Vs 32%) with a majority of secondary interventions (N = 11, 50%), followed by primary (N = 5, 22%), tertiary (N = 3, 13%), and two (9%) mixed interventions. The main outcomes included an improvement of psychological wellbeing, decreased stress reactivity and an increment of general health. There was a predominance of interventions utilizing skills programs and/or cognitive-behavioral techniques. The main source of stress reported related to professional identity, organizational deficiencies, interpersonal conflicts, physical complaints and poor work environment. Taken together, the findings provide important theoretical and practical implications for advancing the study of stress factors and the use of stress management interventions in the workplace. The prerequisite for a successful intervention is to address the real problems experienced by professionals and help them to cope with their difficult situations. The strategy of “bottom-up” offers a potential means of enhancing employees’ health and well-being; however, the most effective means of implementing these interventions needs to be understood better

Genomic deletion and promoter methylation status of Hypermethylated in Cancer 1 (HIC1) in mantle cell lymphoma

Mantle cell lymphomas (MCL), characterized by the t(11;14)(q13;q32), frequently carry secondary genetic alterations such as deletions in chromosome 17p involving the TP53 locus. Given that the association between TP53-deletions and concurrent mutations of the remaining allele is weak and based on our recent report that the Hypermethylated in Cancer 1 (HIC1) gene, that is located telomeric to the TP53 gene, may be targeted by deletions in 17p in diffuse large B-cell lymphoma (DLBCL), we investigated whether HIC1 inactivations might also occur in MCL. Monoallelic deletions of the TP53 locus were detected in 18 out of 59 MCL (31%), while overexpression of p53 protein occurred in only 8 out of 18 of these MCL (44%). In TP53-deleted MCL, the HIC1 gene locus was co-deleted in 11 out of 18 cases (61%). However, neither TP53 nor HIC1 deletions did affect survival of MCL patients. In most analyzed cases, no hypermethylation of the HIC1 exon 1A promoter was observed (17 out of 20, 85%). However, in MCL cell lines without HIC1-hypermethylation, the mRNA expression levels of HIC1 were nevertheless significantly reduced, when compared to reactive lymph node specimens, pointing to the occurrence of mechanisms other than epigenetic or genetic events for the inactivation of HIC1 in this entity

Parents’ marital status and child physical abuse potential: the mediation of depression symptoms

Informed by a social interactional framework of stress and parenting, the aim of this study was to examine the mediating effect of depression symptoms on the asso- ciation between parents’ marital status (married and divorced parents) and child physical abuse potential, in a Portuguese community sample. It was hypothesized that the possible observed differences between divorced and married parents in the child physical abuse potential would be explained by their depression symptoms. Parents (N = 892) were assessed in their marital status, severity of depression symptoms and child physical abuse potential. Results showed that, when compared with married parents, divorced parents had higher child physical abuse potential. However, parents’ depression symptomatology was found as a mediator of the effect of marital status differences on child physical abuse potential. The influence of the status of divorced parents on the increase of child physical abuse potential was explained by the increase of the parents’ depression symptoms. This finding suggested that parents’ divorced status had no longer an effect on child physical abuse potential when parents’ depression symptomatology was tested as a mediator vari- able. The present mediation model explained 47 % of the variability in the child physical abuse potential score. Prac- tical implications of these findings for prevention and psy- chological intervention are also discussed.info:eu-repo/semantics/publishedVersio