bluuebunny/crossref_metadata_2025_split huggingface dataset:
Low striatal T3 is implicated in inattention and memory impairment in an ADHD mouse model overexpressing thyroid hormone-responsive protein
Authors: Custodio Raly James Perez , Kim Mikyung , Sayson Leandro Val , Lee Hyun Jun , Ortiz Darlene Mae , Kim Bung-Nyun , Kim Hee Jin , Cheong Jae Hoon 
Published: September 2021

AbstractAttention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder, potentially with a biological basis; however, its exact cause remains unknown. Thyroid hormone (TH) abnormalities are more prevalent in patients with ADHD than in the general population, indicating a shared pathogenetic mechanism for these conditions. Previously, we identified that overexpression of thyroid hormone-responsive protein (THRSP), a gene highly responsive to TH status, induced inattention in male mice. Herein, we sought to explore whether TH function in THRSP-overexpressing (THRSP OE) mice influences ADHD-like (inattention) behavior. We now confirm that THRSP overexpression in male mice reproduces behavioral features of ADHD, including sustained inattention and memory impairment, accompanied by excessive theta waves that were found normal in both the THRSP-knockout and hetero groups. Physiological characterization revealed low striatal T3 levels in the THRSP OE mice due to reduced striatal T3-specific monocarboxylate transporter 8 (MCT8), indicating brain-specific hypothyroidism in this transgenic mouse strain. TH replacement for seven days rescued inattention and memory impairment and the normalization of theta waves. This study further supports the involvement of the upregulated THRSP gene in ADHD pathology and indicates that THRSP OE mice can serve as an animal model for the predominantly inattentive subtype of ADHD.
Effect of the proximal secondary sphere on the self-assembly of tetrahedral zinc-oxo clusters
Authors: Terlecki Michał , Justyniak Iwona , Leszczyński Michał K. , Lewiński Janusz 
Published: September 2021

AbstractMetal-oxo clusters can serve as directional and rigid building units of coordination and noncovalent supramolecular assemblies. Therefore, an in-depth understanding of their multi-faceted chemistry is vital for the development of self-assembled solid-state structures of desired properties. Here we present a comprehensive comparative structural analysis of isostructural benzoate, benzamidate, and new benzamidinate zinc-oxo clusters incorporating the [O,O]-, [O,NH]- and [NH,NH]-anchoring donor centers, respectively. We demonstrated that the NH groups in the proximal secondary coordination sphere are prone to the formation of intermolecular hydrogen bonds, which affects the packing of clusters in the crystal structure. Coordination sphere engineering can lead to the rational design of new catalytic sites and novel molecular building units of supramolecular assemblies.
Statistically bias-corrected and downscaled climate models underestimate the adverse effects of extreme heat on U.S. maize yields
Authors: Lafferty David C. , Sriver Ryan L. , Haqiqi Iman , Hertel Thomas W. , Keller Klaus , Nicholas Robert E. 
Published: September 2021

AbstractEfforts to understand and quantify how a changing climate can impact agriculture often rely on bias-corrected and downscaled climate information, making it important to quantify potential biases of this approach. Here, we use a multi-model ensemble of statistically bias-corrected and downscaled climate models, as well as the corresponding parent models from the Coupled Model Intercomparison Project Phase 5 (CMIP5), to drive a statistical panel model of U.S. maize yields that incorporates season-wide measures of temperature and precipitation. We analyze uncertainty in annual yield hindcasts, finding that the CMIP5 models considerably overestimate historical yield variability while the bias-corrected and downscaled versions underestimate the largest weather-induced yield declines. We also find large differences in projected yields and other decision-relevant metrics throughout this century, leaving stakeholders with modeling choices that require navigating trade-offs in resolution, historical accuracy, and projection confidence.
Quality of Life and Sleep Among Brazilian Speech-Language Pathology Students During the COVID-19 Pandemic
Authors: da Silva Kelly , Guedes-Granzotti Raphaela Barroso , Ribeiro Vanessa Veis , Dornelas Rodrigo , Cruz Pablo Jordão Alcântara , César Carla Patrícia Hernandez Alves Ribeiro 
Published: September 2021

PurposeThe aim of this study was to identify the factors that are related to the quality of life and sleep of Brazilian speech-language pathology students during the COVID-19 pandemic.MethodThis study adopted a cross-sectional, descriptive observational design. A total of 161 undergraduate speech-language pathology students participated in this study. The relationship between quality of life and sleep, socioeconomic characteristics, and health problems was examined using correlational analysis. Participant data were collected using an online form, which included questions that assessed their socioeconomic and health characteristics during the pandemic; the Pittsburgh Sleep Quality Index; and the first two questions of the World Health Organization Quality of Life–Brief Version.ResultsThere were relationships between sleep dysfunction, a reduction in household income during the pandemic, membership to a risk group, living with at-risk individuals, time spent on the Internet (hours), and the purpose underlying Internet use. Satisfaction with health was related to membership to a risk group. Perceptions of the negative impact of the pandemic on mental health were related to sleep dysfunction and quality of life during the pandemic.ConclusionThe present findings underscore the need for policies that promote health, prevent diseases, and address mental health problems during times of crisis, such as the COVID-19 pandemic.
Supporting Aided Augmentative and Alternative Communication Interventions for Individuals With Complex Communication Needs via Telepractice: A Tutorial
Authors: Simacek Jessica , Wattanawongwan Sanikan , Reichle Joe , Hyppa-Martin Jolene , Pierson Lauren , Dimian Adele F. 
Published: September 2021

Purpose
People who experience complex communication needs often benefit from interventions involving augmentative and alternative communication (AAC). However, barriers often prevent people from accessing high-quality AAC interventions. The COVID-19 pandemic likely further disrupted the onset or continuity of intervention. Furthermore, people with complex communication needs are typically at greater risk of experiencing health care disparities in general, particularly when people are culturally and linguistically diverse or reside in rural areas. Telepractice has supported the delivery of AAC interventions as an alternative model to replace or supplement in-person services during the pandemic. Considerations for how telepractice can continue to support intervention delivery to address barriers to access are discussed in this tutorial.

Method
We provide an overview of telepractice applications, guidance, and resources to support practitioners in developing and providing evidence-based AAC interventions via telepractice. We provide functional examples, sample questions, and practice resources (e.g., American Speech-Language-Hearing Association, National Telehealth Consortium). We describe intervention activities, discuss relevant literature, and address practice implications from our own research.

Results
We propose arrangements for initial planning for telepractice by the practitioner providing the intervention or consultation (for ease and clarity, this role is referred to as the “tele-provider”). We also discuss how to support recipients of these services, which likely include the person who communicates using AAC as well as a family member/caregiver or direct support person who is in the same physical location and who facilitates intervention implementation (for ease and clarity, this individual is referred to as the eHelper).

Conclusions
Telepractice has been necessary for many practitioners to provide AAC intervention continuity when in-person services have been unavailable during the pandemic. As this need resolves, telepractice is an important consideration for future innovation in AAC intervention delivery for greater access to supports and services.

Supplemental Material

https://doi.org/10.23641/asha.16620223
Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families
Authors: Nawal Warda , Ullah Asmat , Ullah Ubaid , Farrakh Kanza , Ahmad Farooq , Khan Hammal , Ahmad Gul Saeed , Khan Bushra , Ansar Muhammad , Kalsoom Umm-e- , Ahmad Wasim 
Published: September 2021

AbstractBackground Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP.Methods and Results Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level. Homozygosity mapping using microsatellite markers established linkage of the families to XPC gene on chromosome 3p25.1. Sanger sequencing of the XPC gene identified a novel homozygous single bp deletion [NM_004628.5; c.1934del; p.(Pro645Leufs*5)] and two previously reported mutations that included a nonsense [c.1243 C>T; p.(Arg415*)] and a splice acceptor site (c.2251–1 G>C), all segregating with the disease phenotypes in the families.Conclusion This report has extended the spectrum of mutations in the XPC gene and will also facilitate in diagnosis of XP and counselling of families inheriting it, which is the only inevitable tool for preventing the disease occurrence in future generations.
Wie wird die Begleitung durch einen Reha-Berater erlebt? Eine
qualitative Studie zur Wahrnehmung des Reha-Beraters der Deutschen
Rentenversicherung Bund bei Personen mit bewilligten Leistungen zur Teilhabe am
Arbeitsleben
Authors: Sternberg Annika , Bethge Matthias 
Published: September 2021

Zusammenfassung
Hintergrund und Ziel Personen mit bewilligter Leistung zur Teilhabe am
Arbeitsleben erhalten kurz nach der Bewilligung ein Beratungsgespräch
mit einem Reha-Berater. Ziel der Beratung ist eine an der jeweiligen Krankheits-
und Erwerbsbiografie der Rehabilitanden orientierte Auswahl individuell
passender Leistungen aus dem zur Verfügung stehenden Leistungsspektrum.
Das Erstgespräch hat damit eine wesentliche Bedeutung für den
weiteren Rehabilitationsprozess. Bislang ist kaum untersucht, welche Merkmale
eine aus Sicht von Rehabilitanden gelungene Beratung charakterisieren. Ziel der
qualitativen Studie war es, die Perspektive der Rehabilitanden auf die Beratung
bei Personen mit bewilligten Leistungen zur Teilhabe am Arbeitsleben bei der
Deutschen Rentenversicherung Bund zu untersuchen.
Methodik Mit 16 Rehabilitanden wurden telefonische,
leitfadengestützte Interviews geführt. Die Gespräche
wurden aufgezeichnet und transkribiert. Die Daten wurden inhaltsanalytisch
computergestützt mit MAXQDA mittels Technik der induktiven
Kategorienbildung ausgewertet.
Ergebnisse Es ließen sich drei wahrgenommene Formen der Begleitung
voneinander abgrenzen: eine unterstützende Begleitung, eine passive
Begleitung und eine hemmende Begleitung. Personen mit erlebter passiver und
hemmender Begleitung berichteten von Verunsicherung und Rückzug im
weiteren Rehabilitationsprozess.
Schlussfolgerungen Es existiert eine individuelle Wahrnehmung der Beratung
und Begleitung durch den Reha-Berater, die sich auf die Einstellung und das
Verhalten der Rehabilitanden im weiteren Verlauf der Leistungen zur Teilhabe am
Arbeitsleben auswirken kann. Die Herausforderung besteht darin,
unterstützende Erfahrungen im zeitlich begrenzten Rahmen der
Erstberatung zu ermöglichen.
Polymorphisms of Vitamin D Receptor and the Effect on Metabolic and
Endocrine Abnormalities in Polycystic Ovary Syndrome: A Review
Authors: Vulcan Talida , Filip Gabriela Adriana , Lenghel Lavinia Manuela , Suciu Tudor , Ilut Paula , Procopciuc Lucia Maria 
Published: September 2021

AbstractPolycystic ovary syndrome (PCOS) is one of the most prevalent endocrine disorder
in women of reproductive age. Vitamin D and its receptor are thought to play an
important role in PCOS susceptibility, although the impact of vitamin D receptor
(VDR) polymorphisms on the hormonal and metabolic profile is still
controversial. A literature search in PubMed and Embase was performed up to
September 2020 for case-control studies in women suffering from PCOS, with
outcome related to VDR polymorphisms effect on metabolic/endocrine
disturbances. We have found 16 eligible studies including 2566 women with PCOS
and 2430 controls. ApaI polymorphism seemed to be associated with
hyperandrogenism in both Asian and Caucasian population. FokI variant was
correlated with metabolic/endocrine parameters especially in Asian
population, while a relation between Cdx2 genotypes and insulin sensitivity was
observed in both ethnicities. VDR polymorphisms have an important role in PCOS
development and related hormonal and metabolic abnormalities. Few case-control
studies analysed the interaction between VDR variants and
metabolic/endocrine parameters with the majority of the articles focused
on the Asian region. Further research on various ethnic populations with larger
sample size are still needed for a definitive conclusion, in order to allow
early diagnosis and prevention of PCOS comorbidities.
Copper-Catalyzed Regioselective Sila-acylation and Sila-imination of Allenes Using Esters and Nitriles
Authors: Fujihara Tetsuaki , Suda Katsushi , Matsuda Yuki , Yamaguchi Tatsuya 
Published: September 2021

AbstractThe sila-acylation of allenes is performed in the presence of a copper catalyst using PhMe2Si-B(pin) and esters as the silyl and acyl sources, respectively. β-Silyl-β,γ-unsaturated ketones are obtained regioselectively in good to high yields. The sila-imination of allenes is also achieved using nitriles as electrophiles. Exposure of the reaction mixture to air results in the production of cyclic silyl peroxides.
Lung Volume Head Ratio: A Potential Parameter for Prediction of Respiratory Distress in Newborn
Authors: Afreen Shama , Kumar Manisha , Nangia Shushma 
Published: September 2021

Objective This study aimed to evaluate the role of fetal lung biometry profile including fetal lung volume head ratio (LVHR) in predicting the occurrence of respiratory distress (RD) in early preterm newborn.
Study Design Prospective analytical cohort study was done to evaluate the clinical value of fetal sonographic measures, such as the total lung area (TLA), total lung volume (TLV), TLA head ratio (TLHR), LVHR, in pregnant women between 30 to 34 weeks' gestation who were expected to deliver within the next 72 hours. The cases with RD were compared with controls who had normal outcome.
Result A total of 30 (27.4%) out of 110 patients, who underwent early preterm delivery, with RD rest 80 (72.6%) were controls. The TLA was 694.1 ± 373.1 mm2 in cases whereas 1,149.0 ± 506 0.7 mm2 in controls with significant difference between the two groups (p < 0.001). Similarly the lung volume (p < 0.001) and the LVHR were significantly less (p < 0.001) in cases compared with controls. The TLV was a better parameter (sensitivity, 73.7% and specificity, 86.4%) compared with TLA (sensitivity, 68.4% and specificity, 81.5%). Among the lung head ratios, LVHR had the best sensitivity of 95.5%, specificity: 80.3%, positive predictive value (PPV): 58.3%, and negative predictive value (NPV): 97.0% at the cut-off of 46.5.
Conclusion RD was observed in nearly one-third of the preterm infants born between 30 and 34 weeks of gestation and could be predicted accurately in over 9 out of 10 cases using the novel parameter TLVR.
Key Points
Evaluation of the Serrated Lesions Detection Rate and Its Role as a Colonoscopy Quality Criteria
Authors: Clairet Conceição de Maria Aquino Vieira , De Aquino José Luis Braga , Clairet Laurent Martial 
Published: September 2021

Abstract
Objectives To evaluate the serrated lesion detection rate in colonoscopy at a specialized clinic and its role as quality criteria for endoscopic examination.
Methods This is an observational cross-sectional study with all patients that underwent colonoscopy between October 2018 and May 2019, performed by an experimented physician. A questionnaire was answered before the examination by the patient, and another questionnaire after the colonoscopy was answered by the medical team. All polyps identified were removed and sent to the same pathologist for analysis.
Results A total of 1,000 colonoscopies were evaluated. The average age of the patients was 58.9 years old, and most of them were female (60.6%). In 62.5% of the procedures, polyps were removed, obtaining a total of 1,730 polyps, of which 529 were serrated lesions, being 272 sessile serrated lesions (SSL). This data resulted in a serrated lesion detection rate (SDR) of 29.2%, and of 14% when considering only the SSL detection rate (SSLDR). The right colon had higher rates, with 22.3% SDR and 15.3% SSLDR. Screening colonoscopies also presented a higher serrated detection rate, of 20%, followed by diagnostics and follow-up exams. Smoking was the only risk factor associated with higher serrated detection rate.
Conclusions The serrated lesion detection rate is higher than the ones already previously suggested and the have the higher rates were stablished in the right colon and on screening exams.
Potential Prognostic Significance of Patterns of Deletion (13q) in Plasma Cell Myelomas—Reappraisal of a Perennial Bone of Contention
Authors: Bhardwaj Mohit Kumar , Mishra Sourav Kumar , Sharma Shivani , Salona Beklashwar , Mohanty Sambit Kumar 
Published: September 2021

AbstractDeletion 13q is recommended in the initial cytogenetic workup of myeloma patients. The patterns of this abnormality have been shown to have differential prognostic value. The presence of monosomy 13 is associated with a significantly poor progression-free survival, while interstitial deletion 13q is associated with significant improvement in the overall survival. We analyzed the patterns of 13q abnormalities on fluorescent in situ hybridization (FISH) assay results in myeloma patients. Deletion 13q abnormalities were observed in 38% (55 of 138) of the myeloma patients. Ten (18%) and 44 (80%) patients showed interstitial deletion and terminal deletion, respectively. One had a mosaic of both the patterns. Nine of the ten patients with interstitial deletions were males. For terminal deletion 13q, there appeared to be a slight female predilection, with a male to female ratio of 0.83:1. Half of the patients with deletion 13q had coexistent cytogenetic abnormalities. We suggest a baseline FISH for deletion 13q and specification of the type of abnormality (terminal vs. interstitial) in patients with myeloma. Based on our observation in conjunction with the available literature, further studies in a large cohort of patients with survival data are warranted to clearly delineate the role of deletion 13q in myeloma.
A Retrospective Study of Factors Affecting Pathway and Time to Diagnosis, Time to Treatment in Children with Cancer in a Single Center in South India
Authors: Lashkari Harsha Prasada , Prasada Shobha , Joshi Jayatheerth , Rao Sadashiva 
Published: September 2021

Abstract
Introduction The overall cure rate of childhood cancers is above 79% in the developed world, whereas in the developing world, like in India, it is around 50%. It is vital to know the routes of presentation and factors affecting the presentation of childhood cancers in primary, secondary, and tertiary care to design a better survival strategy in childhood cancer.
Objective The aim of this study was to know the factors affecting the time to diagnosis and time to treatment in children with cancers in a single center in South India.
Materials and Methods It was a retrospective cohort study of children diagnosed with cancer between January 1, 2014 and December 31, 2016 at the pediatric oncology unit, KMC Hospital Mangalore, India. The patient interval, time to diagnosis, patient's family, economic background, parental education, and referral pattern were recorded, and its impact on the time taken to diagnosis was studied. The data was analyzed using SPSS 20.0 software.
Results Out of 111 children, 72 were boys (64.8%). Fifty-one (46%) children belonged to the less than 5-year age group. The most common cancer was acute lymphoblastic leukemia, diagnosed in 50% (56/111) children, followed by acute myeloid leukemia in 14/111(12.6%), brain tumors in 9 (8.1%), and neuroblastoma in 10 (9%) children. The median patient interval/patient delay was 14 days (1–90 days), referral interval was 14 days (1–150 days), and overall time to diagnosis was 41 days (1–194 days). The first contact was the pediatrician in 86/111 (77.4%). Sixty-four percent (71/111) referral came from a secondary care hospital, and the remaining from the outpatient clinics. There was no difference in sex and patient interval (p = 0.278) and overall time to diagnosis (p = 0.4169), age (p = 0.041), mother’s education (p = 0.034), and type of cancer (p = 0.013) were three critical factors that determined the time to diagnosis.
Conclusion Majority of the children diagnosed with cancer presented via referral from pediatricians. An equal number of them were referred to as routine and emergency patients. Age, mother's education, and type of cancers were the crucial factors associated with the overall time taken to diagnosis.
Cervical Angiomyolipoma Coexisting with Endometrial Carcinoma in the Absence of Tuberous Sclerosis: A Rare Case Report
Authors: Muniraj Femela , Divyapriya C , Raghavan Vijayashree , Radha Rajesh Kanna Nandhagopal , Ramanujam Sailatha , Rajakumar Shery Angel 
Published: September 2021

AbstractAngiomyolipoma (AML) is a rare benign mesenchymal neoplasm composed of variable admixture of blood vessels, smooth muscle, and adipose tissue; most commonly located in kidney, and is usually associated with tuberous sclerosis. Extrarenal AML has been reported in various sites, although infrequently in female genital tract (FGT). AML in cervix is extremely rare and only six cases have been reported so far. A 46-year-old postmenopausal female presented with lower abdominal pain, bleeding for 4 days and a polypoidal mass protruding through the cervical os. Endometrial curettings were suggestive of endometrial adenocarcinoma—endometrioid type (World Health Organization [WHO]). The subsequent hysterectomy specimen confirmed the diagnosis and the histologic grade was International Federation of Obstetrics and Gynecology (FIGO) grade I and stage was pT1aN0 (American Joint Committee on Cancer [AJCC], 8th edition). Cervical polyp showed AML. CD34 and smooth muscle actin (SMA) showed diffuse positivity in blood vessels and smooth muscle cells, respectively. HMB-45 was negative. This is the first ever reported case of AML coexisting with endometrial carcinoma in the absence of tuberous sclerosis. CD34 is a good marker for delineating the blood vessels and SMA for both the smooth muscle and vascular components. S100 is generally not needed to prove the adipose tissue component. HMB-45 is not consistently expressed in AML of female genital tract.