Category: Nevin Manimala

Genetics. 2021 Nov 5;219(3):iyab124. doi: 10.1093/genetics/iyab124.

ABSTRACT

Over the last decade, multiparental populations have become a mainstay of genetics research in diploid species. Our goal was to extend this paradigm to autotetraploids by developing software for quantitative trait locus (QTL) mapping in connected F1 populations derived from a set of shared parents. For QTL discovery, phenotypes are regressed on the dosage of parental haplotypes to estimate additive effects. Statistical properties of the model were explored by simulating half-diallel diploid and tetraploid populations with different population sizes and numbers of parents. Across scenarios, the number of progeny per parental haplotype (pph) largely determined the statistical power for QTL detection and accuracy of the estimated haplotype effects. Multiallelic QTL with heritability 0.2 were detected with 90% probability at 25 pph and genome-wide significance level 0.05, and the additive haplotype effects were estimated with over 90% accuracy. Following QTL discovery, the software enables a comparison of models with multiple QTL and nonadditive effects. To illustrate, we analyzed potato tuber shape in a half-diallel population with three tetraploid parents. A well-known QTL on chromosome 10 was detected, for which the inclusion of digenic dominance lowered the Deviance Information Criterion (DIC) by 17 points compared to the additive model. The final model also contained a minor QTL on chromosome 1, but higher-order dominance and epistatic effects were excluded based on the DIC. In terms of practical impacts, the software is already being used to select offspring based on the effect and dosage of particular haplotypes in breeding programs.

PMID:34740237 | DOI:10.1093/genetics/iyab124

Am J Phys Med Rehabil. 2021 Nov 3. doi: 10.1097/PHM.0000000000001918. Online ahead of print.

ABSTRACT

Intra-articular injections with hyaluronic acid are recommended in the treatment of knee osteoarthritis (KOA); however, hypertonic dextrose prolotherapy (HDP) has been reported as effective and safe. The aim was to evaluate the effectiveness of HDP for pain reduction and improvement of function in individuals with KOA in comparison with hyaluronic acid by meta – analysis. The search was performed in electronic databases. Six studies were included (395 participants). No statistically significant differences were found between prolotherapy and hyaluronic acid in pain control in the short term, however, in the sub-analysis where included only the studies that used intra-articular injection within the prolotherapy scheme, an effect was found in favor of the prolotherapy groups (d = -1.33, 95% CI -2.50 to -0.16, p (z) 0.03). Also, an effect was found in favor of the prolotherapy group in the improvement in function (d = -1.05, 95% CI -2.03 to -0.08, p (z) 0.03). No major adverse reactions or side effects were reported in any of the studies. HDP appears to be an effective intervention to decrease pain and improve function in KOA, with efficacy similar to intra-articular injections with hyaluronic acid in the short-term follow-up. Nonetheless, better-quality clinical trials are necessary.

PMID:34740224 | DOI:10.1097/PHM.0000000000001918

J Cardiovasc Nurs. 2021 Nov 2. doi: 10.1097/JCN.0000000000000866. Online ahead of print.

ABSTRACT

BACKGROUND: Individuals with a greater perceived risk of heart attack or type 2 diabetes tend to adopt recommended lifestyle changes to minimize their risks. Despite the rapidly growing Hispanic population in the United States, data regarding their perceived risks are lacking.

OBJECTIVE: This study aimed to examine the perceived risk of suffering a heart attack and/or developing type 2 diabetes and to explore the factors associated with these risk perceptions in Hispanic adults with overweight/obesity.

METHODS: We analyzed 69 Hispanic adults with overweight/obesity who participated in the screening/baseline visit for the Adelgaza study, a weight loss and diabetes prevention trial, using descriptive statistics and logistic regressions. Heart attack or type 2 diabetes risk perception was assessed using a single-item questionnaire.

RESULTS: The mean (SD) values for age and body mass index (BMI) were 43.8 (11.2) years and 31.7 (4.5) kg/m2, respectively. Of all participants, 46.4% perceived a low risk for heart attack and 29.0% perceived a low risk for developing type 2 diabetes in their lifetime, whereas only 11.6% reported both risk perceptions. Older age, lower BMI, and longer walking duration (minutes) per day were significantly associated with a lower perceived risk of heart attack (P < .05). Having no family history of heart attack, lower BMI, and lower fat intake were significant predictors of a lower diabetes-risk perception (P < .05).

CONCLUSIONS: Hispanic adults with overweight/obesity seem to underestimate their risks of heart attack and type 2 diabetes.

PMID:34740229 | DOI:10.1097/JCN.0000000000000866

Comput Inform Nurs. 2021 Nov 2. doi: 10.1097/CIN.0000000000000851. Online ahead of print.

ABSTRACT

The COVID-19 global pandemic caused major disruptions to the delivery of human Anatomy and Physiology courses to nursing students worldwide. The aim of the current study is to evaluate nursing students’ experiences and perceptions of transitioning from a blended to a purely online study mode for first year Anatomy and Physiology courses during the global pandemic. Qualitative and quantitative methodologies were used with a sample of undergraduate nursing students enrolled at a regional Australian university across its three campuses. Descriptive statistical analysis was used to describe the study population. Content analysis was used to evaluate the participants’ use of resources, experiences, and preferences in studying anatomy and physiology. There were 101 participants recruited in the study. Results indicated that face-to-face study mode (41.86%) was the preferred method of delivery during the global pandemic and participants were having a renewed appreciation for the blended study mode (38.37%). Online study mode was the least preferred (19.77%), with the participants’ opinions of this mode of study not altered by the global pandemic. Although the COVID-19 global pandemic shifted the traditional teaching of anatomy and physiology in nursing programs to an online environment, the long-term impacts of this disruption have yet to be ascertained.

PMID:34740220 | DOI:10.1097/CIN.0000000000000851

J Neurosurg Pediatr. 2021 Nov 5:1-8. doi: 10.3171/2021.8.PEDS21301. Online ahead of print.

ABSTRACT

OBJECTIVE: Catheter-based cerebral angiography is commonly used for neurovascular diagnosis in children. In this work, the authors aimed to quantify the complication rate of cerebral angiography in children, characterize these complications, and identify risk factors for complications.

METHODS: Relevant clinical data were retrospectively obtained for 587 consecutive cerebral angiography procedures performed in 390 children from March 2002 to March 2020. Complications were categorized as neurological or nonneurological, and severity was graded using a standard schema. Incidences of complications were reported as point estimates. Associations between risk factors and complications were characterized in univariate analysis using the two-tailed Fisher exact test and in multivariate analysis using multiple logistic regression with bidirectional elimination based on the Akaike information criterion. In both univariate and multivariate analyses, statistical significance was corrected for multiple comparisons using the Benjamini-Hochberg method.

RESULTS: Complications occurred in 6.5% of procedures, including neurological complications in 1.9% and nonneurological complications in 4.8%. Permanent deficits occurred in only 0.2% of cases. Overall, 0.5% of procedures resulted in major complications, while 6.0% resulted in minor complications. Female sex and a history of hypertension or ischemic stroke were associated with an increased risk of complications, while femoral artery access was associated with a decreased risk of complications.

CONCLUSIONS: Pediatric cerebral angiography was shown to have a low rate of major or permanent complications. Children who were female and those with a history of hypertension or ischemic stroke were shown to be at higher risk of complications, while the use of femoral access carried a lower risk of complications.

PMID:34740194 | DOI:10.3171/2021.8.PEDS21301

J Occup Environ Med. 2021 Nov 3. doi: 10.1097/JOM.0000000000002426. Online ahead of print.

ABSTRACT

OBJECTIVE: To examine long-haul truck drivers (LHTD) perceptions of COVID-19 their use of health and safety practices.

METHODS: 146 LHTD completed an online survey to collect data on their experiences with COVID-19. Data were analyzed using descriptive and inferential statistics, and thematic analysis for open-ended responses.

RESULTS: LHTD were aged from 11 to 79 years (mean age 48.1 ± 11.8); 82.2% were men. Almost half of the sample were not concerned about COVID-19. Those not concerned were significantly less likely to employ health and safety practices (e.g. wearing masks, social distancing), and were less educated and healthier. They also perceived COVID-19 to not be real or a serious threat to their health.

CONCLUSIONS: Tailored education approaches are needed to provide evidence-based data on COVID-19 risks and complication.

PMID:34740218 | DOI:10.1097/JOM.0000000000002426

J Neurosurg Spine. 2021 Nov 5:1-8. doi: 10.3171/2021.7.SPINE202217. Online ahead of print.

ABSTRACT

OBJECTIVE: Tranexamic acid (TXA) is an antifibrinolytic agent associated with reduced blood loss and mortality in a wide range of procedures, including spine surgery, traumatic brain injury, and craniosynostosis. Despite this wide use, the safety and efficacy of TXA in spine surgery has been considered controversial due to a relative scarcity of literature and lack of statistical power in reported studies. However, if TXA can be shown to reduce blood loss in laminectomy with fusion and posterior instrumentation, more surgeons may include it in their armamentarium. The authors aimed to conduct an up-to-date systematic review and meta-analysis of the efficacy of TXA in reducing blood loss in laminectomy and fusion with posterior instrumentation.

METHODS: A systematic review and meta-analysis, abiding by PRISMA guidelines, was performed by searching the databases of PubMed, Web of Science, and Cochrane. These platforms were queried for all studies reporting the use of TXA in laminectomy and fusion with posterior instrumentation. Variables retrieved included patient demographics, surgical indications, involved spinal levels, type of laminectomy performed, TXA administration dose, TXA route of administration, operative duration, blood loss, blood transfusion rate, postoperative hemoglobin level, and perioperative complications. Heterogeneity across studies was evaluated using a chi-square test, Cochran’s Q test, and I2 test performed with R statistical programming software.

RESULTS: A total of 7 articles were included in the qualitative study, while 6 articles featuring 411 patients underwent statistical analysis. The most common route of administration for TXA was intravenous with 15 mg/kg administered preoperatively. After the beginning of surgery, TXA administration patterns were varied among studies. Blood transfusions were increased in non-TXA cohorts compared to TXA cohorts. Patients administered TXA demonstrated a significant reduction in blood loss (mean difference -218.44 mL; 95% CI -379.34 to -57.53; p = 0.018). TXA administration was not associated with statistically significant reductions in operative durations. There were no adverse events reported in either the TXA or non-TXA patient cohorts.

CONCLUSIONS: TXA can significantly reduce perioperative blood loss in cervical, thoracic, and lumbar laminectomy and fusion procedures, while demonstrating a minimal complication profile.

PMID:34740174 | DOI:10.3171/2021.7.SPINE202217

J Neurosurg Spine. 2021 Nov 5:1-10. doi: 10.3171/2021.7.SPINE21689. Online ahead of print.

ABSTRACT

OBJECTIVE: Despite the increasing incidence of spinal epidural abscess (SEA), the baseline parameters potentially predictive of treatment failure remain poorly characterized. In this study, the authors identify the relevant baseline parameters that predict multimodal treatment failure in patients with either intravenous drug use (IVDU)-associated SEA or non-IVDU-associated SEA.

METHODS: The authors reviewed the electronic medical records of a large institutional series of consecutive patients with diagnosed SEA between January 2011 and December 2017 to characterize epidemiological trends as well as the complement of baseline measures that are predictive of failure after multimodal treatment in patients with and without concomitant IVDU. The independent impact of clinical and imaging factors in detecting treatment failure was assessed by performing stepwise binary logistic regression analysis.

RESULTS: A total of 324 consecutive patients with diagnosed SEA were identified. Overall, 226 patients (69.8%) had SEA related to other causes and 98 (30.2%) had a history of recent IVDU. While non-IVDU SEA admission rates remained constant, year-over-year admissions of patients with IVDU SEA nearly tripled. At baseline, patients with IVDU SEA were distinct in many respects including younger age, greater unemployment and disability, less frequent diabetes mellitus (DM), and more frequent methicillin-resistant Staphylococcus aureus infection. However, differences in length of stay, loss to follow-up, and treatment failure did not reach statistical significance between the groups. The authors constructed independent multivariate logistic regression models for treatment failure based on identified parameters in the two cohorts. For the non-IVDU cohort, the authors identified four variables as independent factors: DM, hepatitis B/C, osteomyelitis, and compression deformity severity. In contrast, for patients with IVDU, the authors identified three variables: albumin, endocarditis, and endplate destruction. Receiver operating characteristic and area under the curve (AUC) analyses were undertaken for the multivariate models predicting the likelihood of treatment failure in the two cohorts (AUC = 0.88 and 0.89, respectively), demonstrating that the derived models could adequately predict the risk of multimodal treatment failure. Treatment failure risk factor point scales were derived for the identified variables separately for both cohorts.

CONCLUSIONS: Patients with IVDU SEA represent a unique population with a distinct set of baseline parameters that predict treatment failure. Identification of relevant prognosticating factors will allow for the design of tailored treatment and follow-up regimens.

PMID:34740181 | DOI:10.3171/2021.7.SPINE21689

Seizure. 2021 Oct 27;93:133-139. doi: 10.1016/j.seizure.2021.10.019. Online ahead of print.

ABSTRACT

AIM: To better characterize the clinical phenotype of Poirier-Bienvenu neurodevelopmental syndrome (OMIM ID: 618,732) due to pathogenic variants of the CSNK2B gene.

METHOD: We reviewed the electro-clinical and developmental data of all 14 patients with de novo mutations of the CSNK2B gene reported in the literature and describe a further individual with a novel CSNK2B pathogenic variant.

RESULTS: Clustered generalized tonic-clonic or myoclonic seizures with onset before the age of 18 months and delayed neurodevelopment were present in more than 75% of patients. Epilepsy was pharmaco-resistant in 40%. All the individuals (27%) with normal neurological development had pharmaco-sensitive epilepsy. The severity of cognitive and motor impairments was higher in the group with pharmaco-resistant epilepsy, and a statistically significant correlation between seizure control and the severity of cognitive impairment was documented (χ2(3) = 9.44; p = .024) INTERPRETATION: Early seizure onset, clustered seizures and delayed development in both males and females were early clinical markers in most patients with CSNK2B mutations. The entity of neurodevelopmental abnormalities was related to epilepsy severity. Prospective studies are required to better assess the relationship between epilepsy and developmental outcomes in this condition.

PMID:34740143 | DOI:10.1016/j.seizure.2021.10.019

Sleep Med. 2021 Oct 22;88:74-80. doi: 10.1016/j.sleep.2021.10.025. Online ahead of print.

ABSTRACT

BACKGROUND: Although several studies have shown the involvement of specific structures of the central nervous system, the dopaminergic system, and iron metabolism in restless legs syndrome (RLS), the exact location and extent of its anatomical substrate is not yet known. The scope of this new study was to investigate the brain subcortical gray structures, by means of structural magnetic resonance imaging (MRI) studies, in RLS patients in order to assess the presence of any volume or shape abnormalities involving these structures.

METHODS: Thirty-three normal controls (24 females and nine males) and 45 RLS patients (34 females and 11 males) were retrospectively recruited and underwent a 1.5 Tesla MRI study with two-dimensional T1 sequences in the sagittal plane. Post-processing was performed by means of the Functional Magnetic Resonance Imaging of the Brain Analysis Group Integrated Registration and Segmentation Tool (FIRST) software, and both volumetric and morphological analyses of the thalamus, caudate, putamen, globus pallidus, brainstem, hippocampus, and amygdala, bilaterally, were carried out.

RESULTS: A statistically significant volumetric reduction in the left amygdala and left globus pallidus was found in subjects with RLS, as well as large surface morphological alterations affecting the amygdala bilaterally and other less widespread surface changes in both hippocampi, the right caudate, the left globus pallidus, and the left putamen.

CONCLUSIONS: These findings seem to indicate that the basic mechanisms of RLS might include a pathway involving not only the hypothalamus-spinal dopaminergic circuit (nucleus A11), but also pathways including the basal ganglia and structures that are part of the limbic system; moreover, structural alterations in RLS seem to concern the morphology as well as the volume of the above structures. The role of basal ganglia in the complex neurophysiological and neurochemical mechanism of RLS needs to carefully reconsidered.

PMID:34740168 | DOI:10.1016/j.sleep.2021.10.025