Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan

Phenylketonuria (PKU) and hyperphenylalaninemia (HPA), both identified in newborn screening, are attributable to variants in PAH. Reportedly, the p.R53H(c.158G>A) variant is common in patients with HPA in East Asia. Here, we aimed to define the association between p.R53H and HPA phenotype, and study the long-term outcome of patients with HPA carrying p.R53H. We retrospectively reviewed the genotype in 370 patients detected by newborn screening, and identified the phenotype in 280 (117, HPA; 163, PKU). p.R413P(c.1238G>C) was the most frequently found (n = 117, 31.6%) variant, followed by p.R53H (n = 89, 24.1%). The odds ratio for heterozygous p.R53H to cause HPA was 48.3 (95% CI 19.410–120.004). Furthermore, we assessed the non-linear association between the phenylalanine (Phe) value and elapsed time using the follow-up data of the blood Phe levels of 73 patients with HPA carrying p.R53H. The predicted levels peaked at 161.9 μmol (95% CI 152.088–172.343) at 50–60 months of age and did not exceed 360 μmol/L during the 210-month long observation period. The findings suggest that patients with HPA, carrying p.R53H, do not need frequent Phe monitoring as against those with PKU. Our study provides convincing evidence to determine clinical management of patients detected through newborn screening in Japan.
Effects of Impacted Lower Third Molar Extraction on Periodontal Tissue of the Adjacent Second Molar

Abstract The extraction of impacted lower third molars (ILTM) is one of the most common procedures in oral-maxillofacial surgery. Being adjacent to lower second molars, most impacted lower third molars often lead to distal periodontal defects of adjacent second molars. Several symptoms may occur after extraction, such as periodontal pocket formation, loss of attachment, alveolar bone loss and even looseness of second molar resulting in extraction. The distal periodontal defects of second molars are affected by many factors, including periodontal conditions, age, impacted type of third molars, and intraoperative operations. At present, several studies have suggested that dentists can reduce the risk of periodontal defects of the second molar after ILTM extraction through preoperative evaluation, reasonable selection of flap design, extraction instruments and suture type, and necessary postoperative interventions. This review summarizes the research progress on the influence factors, interventions methods and some limitations of distal periodontal defects of adjacent second molar after extraction of impacted mandibular third molars, with the aim of opening up future directions for studying effects of ILTM extraction on periodontal tissue of the adjacent second molar.
Relationship Between Obstructive Sleep Apnea and Late Gadolinium Enhancement and Their Effect on Cardiac Arrhythmias in Patients with Hypertrophic Obstructive Cardiomyopathy

Purpose: Obstructive sleep apnea (OSA) and myocardial fibrosis are associated with cardiac arrhythmia. The purpose of this study was to explore the relationship between OSA and myocardial fibrosis, as well as their impact on cardiac arrhythmia in hypertrophic obstructive cardiomyopathy (HOCM) patients. Methods: We prospectively studied 151 consecutive patients with a confirmed diagnosis of HOCM at the Fuwai Hospital between September 2017 and 2018. Polysomnography, Holter electrocardiography, and cardiac magnetic resonance imaging were performed on all patients. Myocardial fibrosis was reflected by late gadolinium enhancement (LGE), detected using cardiac magnetic resonance imaging. Results: Myocardial fibrosis, measured using LGE%, was found to increase with increasing OSA severity [6.8% (3.6–12.9%), 6.1% (3.4–10.0%), 9.6% (5.5–14.5%), and 15.5% (9.3–20.0%) for no-OSA, mild OSA, moderate OSA, and severe OSA, respectively; p=0.003]. LGE% correlated with the New York Heart Association functional classifications (p=0.018), septal thickness (p=0.026), and apnea-hypopnea index (AHI) (p<0.001). The prevalence of isolated premature ventricular contraction (PVC) (p=0.028), paired PVC (p=0.036), ventricular bigeminy (p=0.005)/ trigeminy (p<0.001), non-sustained ventricular tachycardia (NSVT) (p=0.001), isolated premature atrial contraction (PAC) (p=0.032), and supraventricular tachycardia (p=0.029) was significantly higher in patients with OSA. Additionally, LGE% and AHI were independent risk factors for isolated PVC (OR: 1.04, p=0.001 and OR: 1.07, p=0.039, respectively), ventricular bigeminy (OR: 1.04, p=0.003 and OR: 1.26, p=0.002, respectively)/trigeminy (OR: 1.07, p=0.040 and OR: 1.06, p=0.001, respectively), and NSVT (OR: 1.17, p<0.001 and OR: 1.08, p<0.001, respectively) after adjustment for age, sex, and other parameters. Conclusion: Both OSA and LGE% were associated with a greater likelihood and increased frequency of ventricular arrhythmias (including NSVT) in patients with HOCM. Thus, the severity of OSA was independently associated with more severe myocardial fibrosis in patients with HOCM.
Difusión espacio-temporal de muertes por COVID-19 en Argentina

Resumen Objetivos. Describir la difusión espacio-temporal de las muertes por COVID-19, y analizar sus desigualdades socio-espaciales en la Argentina. Métodos. Se analizaron las muertes por COVID-19 ocurridas en Argentina al 17 de octubre de 2020 utilizando datos referidos al día, mes y año, y el lugar de residencia. Se utilizó la técnica de escaneo espacio-temporal por permutaciones para detectar la presencia de conglomerados espacio-temporales. Se compararon el nivel de pobreza, densidad poblacional y porcentaje de población adulta mayor entre las áreas pertenecientes a conglomerados de mortalidad alta y las áreas pertenecientes a conglomerados de mortalidad baja. Resultados. Se detectaron cinco conglomerados de mortalidad alta entre el 21 de marzo y el 27 de agosto en el Aglomerado Gran Buenos Aires (AGBA) y noreste de la provincia de Buenos Aires. Los conglomerados de mortalidad baja se localizaron en la periferia del AGBA, desde mediados de septiembre a mediados de octubre, y en el centro y noroeste de la Argentina, entre fines de abril y fines de agosto. Los conglomerados de mortalidad alta se localizaron en áreas con mayor densidad poblacional y mayor porcentaje de población adulta mayor en comparación a los conglomerados de mortalidad baja. Conclusiones. No se detectaron conglomerados de mortalidad alta entre septiembre y mediados de octubre. Tampoco hemos detectado una difusión espacial de muertes hacia áreas de nivel socioeconómico bajo a nivel nacional. Nuestros resultados apoyan el modelo de difusión de la mortalidad en una primera fase, que afecta a la principal área urbana de la Argentina.
Long non-coding RNA SUMO1P3 promotes tumour progression by regulating cell proliferation and invasion in glioma

Gliomas account for 50% of primary brain tumours in the central nervous system. Small ubiquitin-like modifier 1 pseudogene 3 (SUMO1P3), a newly identified long non-coding RNA (lncRNA), serves an oncogenic role in various types of cancer. The aim of the present study was to investigate the effect of SUMO1P3 on glioma progression. The results demonstrated that SUMO1P3 expression was upregulated in glioma tissues and cell lines. Furthermore, SUMO1P3 was associated with a poor overall survival of patients with glioma. The results of the in vitro cell proliferation and flow cytometry assays demonstrated that SUMO1P3-knockdown suppressed cell proliferation and cell cycle. The results of the wound healing and Transwell assays demonstrated that SUMO1P3-knockdown significantly repressed cell migration and invasion. In addition, SUMO1P3 promoted glioma by regulating the expression levels of β-catenin, cyclin-D1, N-cadherin and E-cadherin. Overall, the results of the present study suggested that SUMO1P3 may act as an oncogene by regulating cell proliferation, cell cycle, cell migration and invasion in glioma, and may represent a novel diagnostic biomarker and therapeutic target for glioma.
Essential Newborn Care Service Readiness and Barriers in Northwest Ethiopia: A Descriptive Survey and Qualitative Study

Background Despite the efforts put forth in improving neonatal survival, there is still a high rate of neonatal morbidity and mortality in northwest Ethiopia. Therefore, this study aimed to determine the essential newborn care service readiness scores and explore the health facility-related barriers in North Gondar Zone, Northwest Ethiopia. Methods A cross-sectional survey of 16 health facilities (14 health centers and two hospitals) and twelve in-depth interviews were included in the study in three randomly selected districts of North Gondar Zone. A pretested health facility inventory questionnaire customized from the World Health Organization (WHO) service readiness assessment tool was used for a facility audit. Basic emergency and essential obstetric and newborn care (BEmONC), and child immunization service readiness scores were determined using unweighted averages according to the WHO guideline. Descriptive statistics were done for the quantitative data, and thematic content analysis was employed using NVivo 12 software for the qualitative data. Results All the surveyed health facilities had no specialist medical doctors, and 50% (8/16) of them had no inpatient beds. The overall BEmONC service readiness score was 62.7% (10/16) (95% CI: 34.8, 83.8) and only one facility had all the tracer items. Trained staff and guidelines had a 27.5% (4/16) readiness score, followed by 71.9% (12/16) readiness score for equipment, and 88.6% (14/16) readiness score for medicine and commodities. The overall child immunization service readiness score was 90.3% (15/16) (95% CI: 51.4, 94.7) and eleven facilities (68.8%) had all the tracer items. The immunization service readiness score was higher; 84.4% (14/16) for trained staff and guidelines, 92.8% (15/16) for equipment, and 93.8% (15/16) for medicines and commodities. Unavailability of equipment, shortage of supplies, and lack of respectful and compassionate healthcare practices were the key facility-related barriers compromising essential newborn care service readiness. Conclusions for Practice The survey revealed that the essential newborn care service readiness score of the health facilities was low, and it calls for improving BEmONC service readiness in particular. Provision of timely training for newly recruited staff, fulfilling essential equipment, and steady supply is imperative.
Antifungal activity and chemical composition of eucalypt (Eucalyptus leucoxylon L.) essential oil.

The objective of this study was to investigate the antifungal activity of eucalypt essential oil against some microorganisms during fruit storage of Washington Navel Orange. In this experiment, we used of 0, 200 and 400 μl concentration of eucalypt essential oil as spray and floating for 10 and 20 min on polluted fruits against Penicillium digitutum and P. italicum. Also, the chemical composition of the eucalypt oil was investigated using thin Gas chromatography and Gas chromatography-mass spectrometry methods. This investigation was performed by the completely random design with three replications. Essential oil of eucalypt showed antifungal activity against P. digitutum in both of spray and floating applications. High inhibitory effect on P. digitutum in spray and floating were obtained at 400 and 200 μl for 10 min, respectively. No activity was observed against P. italicum in spray method, whereas Antifungal activity was observed in floating (400 μl for 10 min). The GC and GC-MS screening revealed the presence of 1,8-cineol (43.48%), p-cymene (40.997%), α-Pinene (9.4%), α- phellandrene (1.399%), δ-terpinen (1.53%), 4-terpineol (0.547%) and α- terpineol (0.403%) in eucalypt oil. The total flavonoid and phenolic contents were high, which suggests that the strong antifungal activity of eucalypt may be due to high levels of phenolic and flavonoid compounds.
Oral PI3K-δ,γ Inhibitor for the Management of People with Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma: A Narrative Review on Duvelisib

Abstract The development of highly effective targeted therapies has led to a new treatment paradigm in patients with chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL/SLL). Despite these advances, many patients will eventually require alternative treatment strategies due to the emergence of tolerability issues or resistance to these novel agents. Duvelisib is a first-in-class, potent oral agent with dual inhibitor activity against the δ and γ isoforms of phosphoinositide 3-kinase (PI3Kδ and PI3Kγ), which are specific to the hematopoietic system. Dysregulation of the PI3K/PTEN/AKT/mTOR pathway has been implicated in cancer cell growth, survival and metabolism and has been the subject of cancer drug development in recent years. Duvelisib demonstrated activity in CLL/SLL in early trials, leading to further evaluation in the Phase 3 DUO trial that compared duvelisib against ofatumumab in patients with relapsed/refractory CLL/SLL. This trial led to the Food and Drug Administration (FDA) approval for the treatment of adult patients with CLL/SLL after at least two prior lines of therapy. The major reason for therapy discontinuation is the development of serious adverse events, which include severe infections and diarrhea/colitis, precluding its widespread use. Ongoing clinical trials are evaluating duvelisib in combination strategies and with alternate dosing schedules in patients with CLL/SLL. With close monitoring, duvelisib can be a promising drug for the treatment of patients with relapsed or refractory CLL/SLL. This review summarizes the relevant clinical data from recent clinical advances in CLL and aims to interpret the duvelisib trials while exploring strategies to improve its use and adverse event management in the era of novel targeted agents.
Adolescents' Communication on Sexual and Reproductive Health Matters with Their Parents and Associated Factors among Secondary and Preparatory School Students in Ambo Town, Oromia, Ethiopia

Background Sexual and reproductive health (SRH) communication is most likely to promote healthy sexual practices and to reduce risky sexual behavior among adolescents. Communication is the principal means for parents to transmit sexual values and knowledge to their children. Although there are few studies conducted on parent-adolescent communication, there is no study conducted in the town of Ambo. This study was aimed at assessing the level of parent-adolescent communication on SRH issues and its associated factors among school students in Ambo town, Oromia, Ethiopia. Method An institution-based concurrent mixed-method cross-sectional study was conducted among 591 secondary and preparatory school students in Ambo town from February 24th to March 9th, 2019. A systematic sampling technique was used to select the study subject. Data were collected through self-administered questionnaires, and FGD was conducted with parents of students. Data was entered using EpiData version 3.1 and exported to SPSS version 23.0 for statistical analysis. Binary and multivariable logistic regression analyses were used to ascertain the association using a 95% confidence interval (CI) and p value (<0.05). Results The proportion of students who had communication on sexual and reproductive health issues with their parents was 222 (37.6%). Being female (AOR = 2.07, 95% CI: 1.40-3.07), private school (AOR = 2.77, 95% CI: 1.17-3.69), a father with secondary education (AOR = 2.93, 95% CI: 1.05-8.12) and diploma and above (AOR = 3.27, 95% CI: 1.23-8.71), considering sex education necessary (AOR = 2.83, 95% CI: 1.22-6.57), got information about SRH issues from school (AOR = 2.01, 95% CI: 1.06-2.36) and media (AOR = 2.92, 95% CI: 1.49-3.71), and mother's openness to communicate about SRH issues (AOR = 3.30, 95% CI: 1.31-4.05) were found to be significantly associated with parent-adolescent communication on SRH issues. Conclusions The study showed that parent-adolescent communication on SRH issues is low. Being female, those from a private school, father's education, perceived importance of sex education, source of information about SRH issues (school and media), and mother's openness to communicate about SRH issues were identified to be factors associated with the communication. Therefore, the concerned body should consider the identified factors to improve the current level of parent-adolescent communication and adolescent reproductive health.
The Evolution of Derived Monomorphism From Sexual Dimorphism: A Case Study on Salamanders

Synopsis While sexual dimorphism has long received special attention from biologists, derived monomorphism, the condition in which both males and females express similar derived features has been less well studied. Historically, the appearance of “male-like” features in females has been explained by the genetic correlation between the sexes. Recent work emphasizes the importance of studying the independent selective forces on both females and males to understand sexual dimorphism. Sexual dimorphism and derived monomorphism in the genus Aneides are examined in light of predictions of social selection. Aneides hardii shows the greatest degree of sexual dimorphism in snout–vent length and head width, with the other species of Aneides less sexually dimorphic. This reduced dimorphism, however, is not a return to an ancestral monomorphic state, but rather exemplifies derived monomorphism because females express traits that were limited in expression to males of ancestral species. Instead of calling these “male-typical” traits in females, I suggest the term “derived monomorphic” traits as these traits are typical in these females, and “derived monomorphic” can apply to both sexes. Increased attention to studying the patterns and ecological significance of derived monomorphism will shed light on the underlying selective forces, including sexual selection, on both females and males.
New Pharmacologic Approaches to Bronchopulmonary Dysplasia

Abstract Bronchopulmonary Dysplasia is the most common long-term respiratory morbidity of preterm infants, with the risk of development proportional to the degree of prematurity. While its pathophysiologic and histologic features have changed over time as neonatal demographics and respiratory therapies have evolved, it is now thought to be characterized by impaired distal lung growth and abnormal pulmonary microvascular development. Though the exact sequence of events leading to the development of BPD has not been fully elucidated and likely varies among patients, it is thought to result from inflammatory and mechanical/oxidative injury from chronic ventilatory support in fragile, premature lungs susceptible to injury from surfactant deficiency, structural abnormalities, inadequate antioxidant defenses, and a chest wall that is more compliant than the lung. In addition, non-pulmonary issues may adversely affect lung development, including systemic infections and insufficient nutrition. Once BPD has developed, its management focuses on providing adequate gas exchange while promoting optimal lung growth. Pharmacologic strategies to ameliorate or prevent BPD continue to be investigated. A variety of agents, to be reviewed henceforth, have been developed or re-purposed to target different points in the pathways that lead to BPD, including anti-inflammatories, diuretics, steroids, pulmonary vasodilators, antioxidants, and a number of molecules involved in the cell signaling cascade thought to be involved in the pathogenesis of BPD.
Prevalence of Vitamin D Deficiency among Hemodialysis Patients in Palestine: A Cross-Sectional Study

Introduction The level of vitamin D status and its relationship to kidney function and liver function among patients with and without type 2 diabetes were not studied among Palestinian hemodialysis patients before. The aim of this study was to assess the status of vitamin D in hemodialysis patients with and without type 2 diabetes and its determinants. Methods Data were collected on 163 patients on hemodialysis therapy in the Nephrology Department at Najah National University Hospital. Information on age, sex, plasma 25 (OH)D, serum calcium, serum phosphate, parathyroid hormone, dialysis period, hypertension, diabetes, ALT, AST, albumin, alkaline phosphates, and BMI was obtained from the medical records. Data were analyzed using SPSS. Findings. The mean level of 25 (OH)D was 17.3 ± 10.5 ng/ml. Only 12.9% of subjects had 25 (OH)D levels >30 ng/ml, whereas 65% had levels between 10 and 30 ng/ml; the remaining 22.1% were severely vitamin D deficient (<10 ng/ml). Vitamin D deficiency was more prevalent among females. It was not related to PTH, calcium, kidney, or liver function tests. Conclusion Vitamin D deficiency is highly prevalent among patients on hemodialysis with or without DM2.
Dense-Medium Cycloning of Fine Coal Refuse Material

Laboratory testing was carried out to evaluate the performance of a dense-medium cyclone for treating fine coal refuse. The tested material was obtained from the feed stream to a water-only cyclone circuit treating nominal −0.6 mm bituminous coal refuse material obtained from an existing waste pile. A 76.2 mm (3 in) diameter cyclone was used for all tests, which were carried out at three medium relative densities, with and without ultrasonic treatment. Fractional recovery (partition) curves were generated for several size fractions (g) from which the characteristic performance parameters (relative density of separation and probable error) were determined. In addition, the corresponding magnetite size selectivity parameters (cut size, sharpness index, and apparent bypass) were also determined. The results indicated that the dense-medium cyclone was capable of cleaning down to 0.037 mm. Ultrasonic treatment appeared to have only minimal impact on the overall separation of the coal and magnetite.
Chemical Studies of the Proteaceae. Vii. An Examination of the Woods of 17 Species for Resorcinol Derivatives

No phenols could be isolated from the woods of nine Proteaceae species, but eight others yielded mixtures of 5-n-alk(en)ylresorcinols. Two of these also contained substances of the striatol type. Cardwellia sublimis gave a high yield of (-)-bornesitol.Syntheses of 5-heptadecylresorcinol, bilobol and some degradation products of 5-n-alkenylresorcinols are described.
Midterm Outcomes of Posterior Medial Meniscus Root Tear Repair: A Systematic Review

Background: Whereas there has been growing interest in surgical repair of posterior medial meniscus root tears (PMMRTs), our understanding of the medium- and long-term results of this procedure is still evolving. Purpose: To report midterm clinical outcomes from PMMRT repairs. Study Design: Systematic review. Methods: A literature review for this systematic analysis was performed in accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. We identified studies that reported the results of arthroscopic repair of PMMRTs. Functional and imaging outcomes were reviewed and summarized. Results: In total, 28 studies with a total of 994 patients (83% female) with an overall mean age of 57.1 were included in this review. Clinical outcomes (Lysholm, International Knee Documentation Committee, Hospital for Special Surgery, and Tegner scores) were improved at final follow-up in all studies. Of patients, 49% had radiographic progression of at least 1 grade in the Kellgren-Lawrence scale at a mean follow-up of 4.0 years in 11 studies. Cartilage degeneration had progressed at least 1 grade on magnetic resonance imaging scans in 23% of patients at a mean follow-up of 31.6 months in 4 studies. Conclusion: PMMRT repairs provide a functional benefit with consistent improvements in clinical outcome scores. There is some evidence that PMMRT repair slows the progression of osteoarthritis but does not prevent it at midterm follow-up.