Miracle-dz/UniFAR-FTUs huggingface dataset:
Nerve high‐resolution ultrasonography in tangier disease

Introduction: Tangier disease (TD) is an autosomal recessive disorder characterized by severe reduction in high‐density lipoprotein and accumulation of cholesterol esters in peripheral nerves and other tissues. The aim of this study was to evaluate whether nerve high‐resolution ultrasonography (HRUS) can detect morphological nerve changes in TD. Methods: Three related patients of a previously reported Italian family with Tangier disease, carrying the Y1698X mutation in ABCA1, underwent clinical, neurophysiological, and quantitative nerve HRUS evaluation. Nerve HRUS data were compared with normal controls. Results: Despite neurophysiological abnormalities, no quantitative HRUS abnormality was detected in peripheral nerves. Discussion: Normalcy of HRUS in neurophysiologically abnormal nerves suggests possible subtle abnormalities that escape quantitative HRUS detection. Systematic studies in larger TD cohorts with different mutations are needed to confirm our findings. Muscle Nerve 59:587–587, 2019
Retinal Topography in Two Species of Baleen Whale (Cetacea: Mysticeti)

Little is known about the visual systems of large baleen whales (Mysticeti: Cetacea). In this study, we investigate eye morphology and the topographic distribution of retinal ganglion cells (RGCs) in two species of mysticete, Bryde’s whale (Balaenoptera edeni) and the humpback whale (Megaptera novaeanglia). Both species have large eyes characterised by a thickened cornea, a heavily thickened sclera, a highly vascularised fibro-adipose bundle surrounding the optic nerve at the back of the eye, and a reflective blue-green tapetum fibrosum. Using stereology and retinal whole mounts, we estimate a total of 274,268 and 161,371 RGCs in the Bryde’s whale and humpback whale retinas, respectively. Both species have a similar retinal topography, consisting of nasal and temporal areas of high RGC density, suggesting that having higher visual acuity in the anterior and latero-caudal visual fields is particularly important in these animals. The temporal area is larger in both species and contains the peak RGC densities (160 cells mm–2 in the humpback whale and 200 cells mm–2 in Bryde’s whale). In the Bryde’s whale retina, the two high-density areas are connected by a weak centro-ventral visual streak, but such a specialisation is not evident in the humpback whale. Measurements of RGC soma area reveal that although the RGCs in both species vary substantially in size, RGC soma area is inversely proportional to RGC density, with cells in the nasal and temporal high-density areas being relatively more homogeneous in size compared to the RGCs in the central retina and the dorsal and ventral retinal periphery. Some of the RGCs were very large, with soma areas of over 2,000 µm2. Using peak RGC density and eye axial diameter (Bryde’s whale: 63.5 mm; humpback whale: 48.5 mm), we estimated the peak anatomical spatial resolving power in water to be 4.8 cycles/degree and 3.3 cycles/degree in the Bryde’s whale and the humpback whale, respectively. Overall, our findings for these two species are very similar to those reported for other species of cetaceans. This indicates that, irrespective of the significant differences in body size and shape, behavioural ecology and feeding strategy between mysticetes and odontocetes (toothed whales), cetacean eyes are adapted to vision in dim light and adhere to a common “bauplan” that evolved prior to the divergence of the two cetacean parvorders (Odontoceti and Mysticeti) over 30 million years ago.
Surgical Management and Outcome of a Bilateral Thalamic Pilocytic Astrocytoma: Case Report and Review of the Literature

The incidence of bilateral thalamic glioma in children is not reported in the literature. The majority of cases comprise either diffuse astrocytoma, anaplastic astrocytoma, or glioblastoma. Partial surgical resection or biopsy followed by adjuvant therapy is the usual treatment for bilateral thalamic gliomas. Prognosis is dependent on tumor grade and extent of tumor spread to surrounding critical structures. We present a rare case of bilateral thalamic pilocytic astrocytoma. Endoscopic biopsy, septostomy, and placement of a ventriculoperitoneal shunt was done followed by radiotherapy. The 36-month follow-up demonstrated radiological control of the tumor.
Graph Theory Analysis of Functional Connectivity in Major Depression Disorder With High-Density Resting State EEG Data

Existing studies have shown functional brain networks in patients with major depressive disorder (MDD) have abnormal network topology structure. But the methods to construct brain network still exist some issues to be solved. This paper is to explore reliable and robust construction methods of functional brain network using different coupling methods and binarization approaches, based on high-density 128-channel resting state EEG recordings from 16 MDD patients and 16 normal controls (NC). It was found that the combination of imaginary part of coherence and cluster-span threshold outperformed other methods. Based on this combination, right hemisphere function deficiency, symmetry breaking and randomized network structure were found in MDD, which confirmed that MDD had aberrant cognitive processing. Furthermore, clustering coefficient in left central region in theta band and node betweenness centrality in right temporal region in alpha band were significantly negatively correlated with depressive level. And these network metrics had the ability to discriminate MDD from NC, which indicated that these network metrics might be served as the electrophysiological characteristics for probable MDD identification. Hence, this paper may provide reliable methods to construct functional brain network and offer potential biomarkers in MDD.
Nottingham Prognostic Index is an Applicable Prognostic Tool in Non-Metastatic Triple-Negative Breast Cancer

Introduction: Triple-negative breast cancer (TNBC) is characterized by a poor prognosis due to high mortality and early relapse, requiring the study of its prognostic factors. Tumor size, histological grade and lymph node status represent important parameters that are widely studied in breast cancer, and are retained as prognostic factors by several international guidelines. The Nottingham team combined these parameters into a prognostic score called the Nottingham prognostic index (NPI). In this study, we investigated the influence of NPI on outcomes in non metastatic TNBC. Methodology: This retrospective cohort study included all female patients with non metastatic TNBC who received treatment at the Regional Oncology Center Hassan II Oujda - Morocco, between January 2009 and December 2011. The prognostic impact of the NPI on the survival curves at 5 years was studied using multivariate Cox proportional hazards models. Results: The analysis of the data involved 98 patients, 39 patients (39.8%) were classed in the poor prognosis group with a NPI > 5.4. The Overall survival (OS) and Disease free survival (DFS) rates at 5 years, in this group, were 70 and 55.6 % respectively. After adjusting for clinic-pathological variables, a NPI > 5.4 was associated with mortality (HR: 2.598, 95% CI: 1.423 – 4.744, p = 0.002) and disease progression (HR: 2.512, CI to 95%: 1.496 – 4.219, p <0.001) in patients with non-metastatic TNBC. Conclusion: This retrospective cohort analysis showed that NPI was an independent prognostic factor for OS and DFS at 5 years in women with non metastatic TNBC. Once validated, the impact of this score on survival outcomes could be considered in the clinical management of TNBC.
Analysis of synonymous codon usage pattern of genes in unique non–blood‐sucking leech Whitmania pigra

Whitmania pigra is a unique, fluid‐sucking ectoparasite and an anticoagulant medical leech. The codon usage bias (CUB) is the nonuniform usage of synonymous codons in which some codons are more preferred than others. Here, we performed a comprehensive analysis of CUB of genes in W. pigra, analyzing 140 780 transcripts, 59 553 unigenes, and 20 304 qualified coding sequences (CDSs) from the transcriptomic data of W. pigra. The effective number of codons values suggested that the CUB was low in these genes. We recognized profoundly favored codons in W. pigra that have a G/C‐ending. Parity rule two‐bias plots suggested that both mutation pressure and natural selection might have influenced the CUB. However, neutrality plots revealed that natural selection might have played a major role while mutation pressure might have played a minor role in shaping the CUB. We applied principal component analysis to relative synonymous codon usage values for divided CDSs based on GC content and codon‐ending bases. Codon usage in W. pigra had a general inclination toward C‐ending codons and natural selection rather than mutation pressure is the dominant force in the genetic evolution of W. pigra. To our knowledge, this is the first study to describe a complete codon usage analysis of W. pigra; this will increase the understanding of CUB and evolution in W. pigra. The analysis of codon usage patterns in W. pigra aids in understanding its evolution and genetic architecture.
Developing Novel G-Quadruplex Ligands: From Interaction with Nucleic Acids to Interfering with Nucleic Acid–Protein Interaction

G-quadruplex is a special secondary structure of nucleic acids in guanine-rich sequences of genome. G-quadruplexes have been proved to be involved in the regulation of replication, DNA damage repair, and transcription and translation of oncogenes or other cancer-related genes. Therefore, targeting G-quadruplexes has become a novel promising anti-tumor strategy. Different kinds of small molecules targeting the G-quadruplexes have been designed, synthesized, and identified as potential anti-tumor agents, including molecules directly bind to the G-quadruplex and molecules interfering with the binding between the G-quadruplex structures and related binding proteins. This review will explore the feasibility of G-quadruplex ligands acting as anti-tumor drugs, from basis to application. Meanwhile, since helicase is the most well-defined G-quadruplex-related protein, the most extensive research on the relationship between helicase and G-quadruplexes, and its meaning in drug design, is emphasized.
Measuring health status and symptom burden using a web-based mHealth application in patients with heart failure

Background: Symptoms of heart failure markedly impair a patient’s health status. The aim of this study was to identify predictors of health status in a sample of racially and ethnically diverse patients with heart failure using a web-based mobile health application, mi.Symptoms. Methods: We conducted a cross-sectional study at an urban academic medical center. Patients with heart failure self-reported symptoms using validated symptom instruments (e.g. patient-reported outcome measurement information system) by way of the mobile health application, mi.Symptoms. The primary study outcome was health status, measured with the Kansas City cardiomyopathy questionnaire clinical summary score. Data were analyzed using descriptive statistics and multiple linear regression. Results: The mean age of the sample (n=168) was 58.7 (±12.5) years, 37% were women, 36% were Black, 36% identified as Hispanic/Latino, 48% were classified as New York Heart Association class III, and 44% reported not having enough income to make ends meet. Predictors of better health status in heart failure included higher physical function (β=0.89, p=0.001) and ability to participate in social roles and activities (β=0.58, p=0.002), and predictors of poorer health status were New York Heart Association class IV (β=−11.68, p=0.006) and dyspnea (β=−0.77, p<0.001). The predictors accounted for 73% of the variance in health status. Conclusion: Patient-centered interventions should focus on modifiable risk factors that reduce dyspnea, improve functional status, and enhance engagement in social roles to improve the health status of patients with heart failure.
The Integration of EMA and Single-Occasion Multimethod Assessment Data for a Complex Psychiatric Patient

The utilization of multimethod assessment approaches can provide comprehensive information regarding daily interpersonal and personality functioning, increasing opportunities to guide treatment planning in a more personalized, evidence-based manner. The routine implementation of multimethod assessment within clinical settings, however, remains rare, and there are few studies that have reviewed the clinical utility of multimethod assessment. Our goal in this study was to analyze multimethod data collected from a single research subject enrolled in residential treatment in order to illustrate the process of integrating data across both single-occasion (e.g., self-report, performance-based, and behavioral tests) and multitimepoint (ecological momentary assessment of interpersonal experiences) dimensions. Results revealed both areas of convergence and divergence across measures, enabling the development of a complex clinical formulation that sharpened diagnostic considerations and contributed valuable insights to treatment planning. Our findings provide support for the value of incorporating multimethod assessment into routine clinical practice.
Practice patterns of nurse practitioners related to weight management in primary care

Background and objectives: Obesity prevalence rates for adults are at an all-time high. This systematic review of the literature aimed to examine the practice patterns of nurse practitioners (NPs) related to weight management in primary care and recommend future areas of research as it relates to the diagnosis and management of patients with obesity by NPs. Data sources: The databases CINAHL PLUS with Full Text, Cochrane Central Register of Controlled Trials, ERIC, MEDLINE, PsycINFO, and SPORTDiscuss were searched. Conclusions: The initial search resulted in 169 articles. Fifteen peer-reviewed articles from 13 studies were included in the analysis. Four themes emerged from the analysis: approach to practice; the practitioner's role within the interdisciplinary team; communication; and resources and tools. Implications for practice: This review was conducted to better understand the challenges and facilitators to the management of patients with obesity in primary care. Future research between NPs and variables related to obesity are necessary to further identify areas for education, training, and policy development.
On the Possibility of Using the Jellium Model as a Guide To Design Bimetallic Superalkali Cations.

The potential application of the jellium model as guidance in the rational design of bimetallic superalkali cations is examined under gradient-corrected density functional theory for the first time. By using Li, Mg, and Al as atomic building blocks, a series of bimetallic cationic clusters with 2, 8, 20, and 40 valence electrons are obtained and investigated. As the corresponding neutral clusters tend to lose one valence electron to achieve closed-shell states in the jellium model, these studied cations exhibit much lower vertical electron affinities (EAvert , 3.42-4.95 eV) than the ionization energies (IEs) of alkali metal atoms, indicating their superalkali identities. The high stability of these cationic clusters is guaranteed by their considerable HOMO-LUMO gaps and binding energies per atom. Moreover, the feasibility of using the designed superalkalis as efficient reductants to activate CO2 and N2 molecules and as stable building blocks to assemble ionic superatom compounds is explored. Therefore, this study may provide an effective method for obtaining various metallic superatoms with extensive applications on the basis of the simple jellium rule.
Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis

B-cell acute lymphoblastic leukemia is the commonest childhood cancer. In infants, B-cell acute lymphoblastic leukemia remains fatal, especially in patients with t(4;11), present in ~80% of cases. The pathogenesis of t(4;11)/KMT2A-AFF1+ (MLL-AF4+) infant B-cell acute lymphoblastic leukemia remains difficult to model, and the pathogenic contribution in cancer of the reciprocal fusions resulting from derivative translocated-chromosomes remains obscure. Here, “multi-layered” genome-wide analyses and validation were performed on a total of 124 de novo cases of infant B-cell acute lymphoblastic leukemia uniformly diagnosed and treated according to the Interfant 99/06 protocol. These patients showed the most silent mutational landscape reported so far for any sequenced pediatric cancer. Recurrent mutations were exclusively found in K-RAS and N-RAS, were subclonal and were frequently lost at relapse, despite a larger number of non-recurrent/non-silent mutations. Unlike non-MLL-rearranged B-cell acute lymphoblastic leukemias, B-cell receptor repertoire analysis revealed minor, non-expanded B-cell clones in t(4;11)+ infant B-cell acute lymphoblastic leukemia, and RNA-sequencing showed transcriptomic similarities between t(4;11)+ infant B-cell acute lymphoblastic leukemias and the most immature human fetal liver hematopoietic stem and progenitor cells, confirming a “pre-VDJ” fetal cellular origin for both t(4;11) and RASmut. The reciprocal fusion AF4-MLL was expressed in only 45% (19/43) of the t(4;11)+ patients, and HOXA cluster genes are exclusively expressed in AF4-MLL-expressing patients. Importantly, AF4-MLL/HOXA-expressing patients had a significantly better 4-year event-free survival (62.4% vs. 11.7%, P=0.001), and overall survival (73.7 vs. 25.2%, P=0.016). AF4-MLL expression retained its prognostic significance when analyzed in a Cox model adjusting for risk stratification according to the Interfant-06 protocol based on age at diagnosis, white blood cell count and response to prednisone. This study has clinical implications for disease outcome and diagnostic risk-stratification of t(4;11)+ infant B-cell acute lymphoblastic leukemia.
Blood‐Based Biomarkers of Quinpirole Pharmacology: Cluster‐Based PK/PD and Metabolomics to Unravel the Underlying Dynamics in Rat Plasma and Brain

A key challenge in the development of central nervous system drugs is the availability of drug target specific blood‐based biomarkers. As a new approach, we applied cluster‐based pharmacokinetic/pharmacodynamic (PK/PD) analysis in brain extracellular fluid (brainECF) and plasma simultaneously after 0, 0.17, and 0.86 mg/kg of the dopamine D2/3 agonist quinpirole (QP) in rats. We measured 76 biogenic amines in plasma and brainECF after single and 8‐day administration, to be analyzed by cluster‐based PK/PD analysis. Multiple concentration‐effect relations were observed with potencies ranging from 0.001–383 nM. Many biomarker responses seem to distribute over the blood‐brain barrier (BBB). Effects were observed for dopamine and glutamate signaling in brainECF, and branched‐chain amino acid metabolism and immune signaling in plasma. Altogether, we showed for the first time how cluster‐based PK/PD could describe a systems‐response across plasma and brain, thereby identifying potential blood‐based biomarkers. This concept is envisioned to provide an important connection between drug discovery and early drug development.
Le système PATHOS

Le systeme PATHOS est destine a l'evaluation des etats pathologiques presentes par les personnes âgees et de leurs profils de soins requis. Ce systeme permet outre l'analyse de l'etat sanitaire des personnes âgees, de determiner les niveaux de soins requis, pour leur prise en charge dans 8 domaines designes, medecins geriatres, medecins psychiatres, infirmieres, reeducation, psychotherapie, biologie, imagerie, pharmacie. L'article decrit la genese du systeme, la definition des 50 etats pathologiques et des 12 profils. Enfin, le guide pratique du codage donne un certain nombre de conseils dans des situations cliniques particulieres.
Efficacy of robotic radical hysterectomy for cervical cancer compared with that of open and laparoscopic surgery

Background: To perform a meta-analysis of high-quality studies comparing robotic radical hysterectomy (RRH) vs laparoscopic radical hysterectomy (LRH), and open radical hysterectomy (ORH) for the treatment of cervical cancer. Methods: A systematic search of PubMed, Embase, Cochrane Library, and Web of Science was performed to identify studies that compared RRH with LRH or ORH. The selection of high-quality, nonrandomized comparative studies was based on a validated tool (methodologic index for nonrandomized studies) since no randomized controlled trials have been published. Outcomes of interest included conversion rate, operation time, intraoperative estimated blood loss (EBL), length of hospital stay (LOS), morbidity, mortality, number of retrieved lymph nodes (RLNs), and long-term oncologic outcomes. Results: Twelve studies assessing RRH vs LRH or ORH were included for this meta-analysis. In comparison with LRH, there was no difference in operation time, EBL, conversion rate, intraoperative or postoperative complications, LOS, and tumor recurrence (P > .05). Compared with ORH, patients underwent RRH had less EBL (weighted mean difference [WMD] = −322.59 mL; 95% confidence interval [CI]: −502.75 to −142.43, P < .01), a lower transfusion rate (odds ratio [OR] = 0.14, 95% CI: 0.06–0.34, P < .01), and shorter LOS (WMD = −2.71 days; 95% CI: −3.74 to −1.68, P < .01). There was no significant difference between RRH and LRH with respect to the operation time, intraoperative or postoperative complications, RLN, and tumor recurrence (P > .05). Conclusion: Our results indicate that RRH is safe and effective compared to its laparoscopic and open counterpart and provides favorable outcomes in postoperative recovery.
Exposure to a Farm Environment during Pregnancy Increases the Proportion of Arachidonic Acid in the Cord Sera of Offspring

Growing up in a farm environment is protective against allergy development. Various explanations have been put forward to explain this association. Fatty acids are regulators of immune function and the composition of fatty acids in the circulation system may affect immune development. Here, we investigate whether the fatty acid composition of cord serum differs for infants born to Farm (n = 26) or non-Farm mothers (n = 29) in the FARMFLORA birth-cohort. For comparison, the levels of fatty acids in the maternal diet, serum and breast milk around 1 month post-partum were recorded. The fatty acids in the cord sera from infants born to Farm mothers had higher proportions of arachidonic acid (20:4 n-6) and adrenic acid (22:4 n-6) than those from infants born to non-Farm mothers. No differences were found for either arachidonic acid or adrenic acid in the diet, samples of the serum, or breast milk from Farm and non-Farm mothers obtained around 1 month post-partum. The arachidonic and adrenic acid levels in the cord blood were unrelated to allergy outcome for the infants. The results suggest that a farm environment may be associated with the fatty acid composition to which the fetus is exposed during pregnancy.