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Article: Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.

Simonati, Alessandro / Williams, Ruth E

2022 Volume 13, Page(s) 811686

Abstract: The main aim of this review is to summarize the current state-of-art in the field of childhood Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These are genetic diseases associated with the formation of toxic endo- ... ...

Abstract	The main aim of this review is to summarize the current state-of-art in the field of childhood Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These are genetic diseases associated with the formation of toxic endo-lysosomal storage. Following a brief historical review of the evolution of NCL definition, a clinically-oriented approach is used describing how the early symptoms and signs affecting motor, visual, cognitive domains, and including seizures, may lead clinicians to a rapid molecular diagnosis, avoiding the long diagnostic odyssey commonly observed. We go on to focus on recent advances in NCL research and summarize contributions to knowledge of the pathogenic mechanisms underlying NCL. We describe the large variety of experimental models which have aided this research, as well as the most recent technological developments which have shed light on the main mechanisms involved in the cellular pathology, such as apoptosis and autophagy. The search for innovative therapies is described. Translation of experimental data into therapeutic approaches is being established for several of the NCLs, and one drug is now commercially available. Lastly, we show the importance of palliative care and symptomatic treatments which are still the main therapeutic interventions.
Language	English
Publishing date	2022-03-11
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2022.811686
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Article ; Online: Response to pyridoxine in CACNA1A epilepsy-ataxia does not imply a causal effect.

Pal, Deb K / Williams, Ruth E

Seizure

2021 Volume 91, Page(s) 196–197

MeSH term(s)	Ataxia ; Calcium Channels ; Cerebellar Ataxia ; Epilepsy/drug therapy ; Epilepsy/genetics ; Humans ; Pyridoxine/therapeutic use
Chemical Substances	CACNA1A protein, human ; Calcium Channels ; Pyridoxine (KV2JZ1BI6Z)
Language	English
Publishing date	2021-06-29
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	1137610-7
ISSN	1532-2688 ; 1059-1311
ISSN (online)	1532-2688
ISSN	1059-1311
DOI	10.1016/j.seizure.2021.06.031
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Article ; Online: Single-cell atlas of early chick development reveals gradual segregation of neural crest lineage from the neural plate border during neurulation.

Williams, Ruth M / Lukoseviciute, Martyna / Sauka-Spengler, Tatjana / Bronner, Marianne E

eLife

2022 Volume 11

Abstract: The epiblast of vertebrate embryos is comprised of neural and non-neural ectoderm, with the border territory at their intersection harboring neural crest and cranial placode progenitors. Here, we a generate single-cell atlas of the developing chick ... ...

Abstract	The epiblast of vertebrate embryos is comprised of neural and non-neural ectoderm, with the border territory at their intersection harboring neural crest and cranial placode progenitors. Here, we a generate single-cell atlas of the developing chick epiblast from late gastrulation through early neurulation stages to define transcriptional changes in the emerging 'neural plate border' as well as other regions of the epiblast. Focusing on the border territory, the results reveal gradual establishment of heterogeneous neural plate border signatures, including novel genes that we validate by fluorescent in situ hybridization. Developmental trajectory analysis infers that segregation of neural plate border lineages only commences at early neurulation, rather than at gastrulation as previously predicted. We find that cells expressing the prospective neural crest marker
MeSH term(s)	Animals ; Chick Embryo/cytology ; Chickens/physiology ; Gene Expression Regulation, Developmental ; Germ Layers/physiology ; In Situ Hybridization, Fluorescence ; Neural Crest/embryology ; Neural Plate/embryology ; Neurulation/physiology ; PAX7 Transcription Factor/analysis
Chemical Substances	PAX7 Transcription Factor
Language	English
Publishing date	2022-01-28
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.74464
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Article ; Online: Clinician and patient views on janus kinase inhibitors in the treatment of inflammatory arthritis: a mixed methods study.

de Souza, Savia / Williams, Ruth / Nikiphorou, Elena

BMC rheumatology

2024 Volume 8, Issue 1, Page(s) 1

Abstract: Background: Janus kinase inhibitors (JAKi) are new targeted synthetic disease-modifying antirheumatic drugs (DMARDs) licenced in the UK to treat rheumatoid and psoriatic arthritides. Unlike currently often prescribed biological DMARDs, they target a ... ...

Abstract	Background: Janus kinase inhibitors (JAKi) are new targeted synthetic disease-modifying antirheumatic drugs (DMARDs) licenced in the UK to treat rheumatoid and psoriatic arthritides. Unlike currently often prescribed biological DMARDs, they target a different part of the inflammatory pathway and are taken orally. The aim of this study was to explore what UK-based rheumatology clinicians and inflammatory arthritis (IA) patients think about the awareness, prescription and use of JAKi; how they compare with biologics; and how the COVID-19 pandemic has affected how JAKi are viewed and prescribed. Methods: Rheumatology clinicians and IA patients completed online surveys and participated in interviews/focus groups between September 2021 and January 2022. Survey data were analysed descriptively, and interview/focus group data underwent an inductive thematic analysis. Results: 66.6% of patients had at least some awareness of JAKi, 73.0% from their rheumatology team. Problems getting earlier access to these drugs were raised by some patients, with many being prescribed JAKi after multiple other therapies had failed. 91.5% of clinicians prescribed JAKi in keeping with their local guidelines, with 72.3% prescribing them frequently as a monotherapy. Some clinicians had lingering safety concerns over JAKi use. Despite experiencing side effects and knowing of possible long-term risks, patients felt overall the benefits of JAKi outweighed the risks. 39.3% of patients were 'very satisfied' on JAKi, compared with 25.0% on biologics. Patients on JAKi appreciated their short half-life when it comes to infections, and their convenience as an oral therapy. When JAKi were discontinued in patients, it was predominantly due to inefficacy and non-cardiovascular adverse events. The COVID-19 pandemic resulted in increased prescription of JAKi as an alternative to injections and infusions, primarily to avoid potentially exposing patients to the coronavirus. Some patients believed their JAKi may confer some protection against developing severe COVID-19. Conclusion: JAKi are an effective treatment option for IA and are liked by patients. The COVID-19 pandemic appears to have impacted their prescription favourably. However, clinicians have safety concerns over JAKi use. Any decision to go on a JAKi should be informed and take into account individual patient risk factors, circumstances and preferences.
Language	English
Publishing date	2024-01-17
Publishing country	England
Document type	Journal Article
ZDB-ID	2918121-5
ISSN	2520-1026 ; 2520-1026
ISSN (online)	2520-1026
ISSN	2520-1026
DOI	10.1186/s41927-023-00370-7
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Article: Bilingual Language Development in Infancy: What Can We Do to Support Bilingual Families?

Fibla, Laia / Kosie, Jessica E / Kircher, Ruth / Lew-Williams, Casey / Byers-Heinlein, Krista

Policy insights from the behavioral and brain sciences

2022 Volume 9, Issue 1, Page(s) 35–43

Abstract: Many infants and children around the world grow up exposed to two or more languages. Their success in learning each of their languages is a direct consequence of the quantity and quality of their everyday language experience, including at home, in ... ...

Abstract	Many infants and children around the world grow up exposed to two or more languages. Their success in learning each of their languages is a direct consequence of the quantity and quality of their everyday language experience, including at home, in daycare and preschools, and in the broader community context. Here, we discuss how research on early language learning can inform policies that promote successful bilingual development across the varied contexts in which infants and children live and learn. Throughout our discussions, we highlight that each individual child's experience is unique. In fact, it seems that there are as many ways to grow up bilingual as there are bilingual children. To promote successful bilingual development, we need policies that acknowledge this variability and support frequent exposure to high-quality experience in each of a child's languages.
Language	English
Publishing date	2022-02-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	2799034-5
ISSN	2372-7330 ; 2372-7322
ISSN (online)	2372-7330
ISSN	2372-7322
DOI	10.1177/23727322211069312
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Article ; Online: Measuring misconceptions about traumatic brain injury: are existing scales misconceived?

Bryant, Eleanor / Williams, Claire / Horry, Ruth / Worthington, Andrew

Brain injury

2020 Volume 34, Issue 9, Page(s) 1150–1158

Abstract: ... although some were developed for use in specific populations (e.g. sports, professional samples). Existing scales are ...

Abstract	Primary objectives: The aim of this paper was to conduct a review of the misconception literature relating to traumatic brain injury (TBI) and to critically review the comprehensiveness, psychometric properties and other qualities of existing scales designed to measure knowledge and misconceptions of TBI. Methods: Terms relating to misconceptions, misconception scales, public perceptions and traumatic brain injury were used to identify existing scales. The initial search was expanded using the reference lists and citations of relevant articles. Main outcomes: Eight scales were identified for full review, with several sharing a common set of items. The majority of scales were designed to measure public perceptions of TBI, although some were developed for use in specific populations (e.g. sports, professional samples). Existing scales are limited by their scope and breadth of coverage, adoption of a medicalized view of TBI, scaling and scoring issues, failure to use a conceptual framework, and by numerous psychometric issues related to reliability and validity. Conclusions: There are a number of weaknesses attached to existing scales. Several recommendations are made to promote and inform future scale development.
MeSH term(s)	Brain Injuries, Traumatic/diagnosis ; Humans ; Psychometrics ; Reproducibility of Results
Language	English
Publishing date	2020-07-29
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	639115-1
ISSN	1362-301X ; 0269-9052
ISSN (online)	1362-301X
ISSN	0269-9052
DOI	10.1080/02699052.2020.1795721
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Article: An unusual case of pleural nodularity.

Williams, Ruth / Davies, Helen E

Respirology case reports

2018 Volume 6, Issue 6, Page(s) e00330

Abstract: A 65-year-old man was referred to the respiratory unit for evaluation of a left lower-zone opacity noted on a chest radiograph. On review, he appeared well and denied any respiratory symptoms. Physical examination was normal. A thoracic computed tomogram ...

Abstract	A 65-year-old man was referred to the respiratory unit for evaluation of a left lower-zone opacity noted on a chest radiograph. On review, he appeared well and denied any respiratory symptoms. Physical examination was normal. A thoracic computed tomogram (CT) revealed widespread pleural nodularity with fissural and diaphragmatic involvement and prominent mediastinal lymph nodes. An image-guided percutaneous pleural biopsy was arranged. Histological analysis confirmed adenocarcinoma, with initial immunostaining failing to identify the primary site. However, a staging CT scan demonstrated bony lesions and an irregular prostate. Serum PSA level was elevated, and subsequent PSA immunohistochemistry strongly positive; a diagnosis of metastatic prostate cancer was made. Prostate cancer has a well-recognized pattern of metastatic disease (local lymph nodes and bone). Autopsy studies demonstrate that a significant number of patients have pleural involvement, contrasting with the rarity of clinically evident pleural disease during life.
Language	English
Publishing date	2018-08-01
Publishing country	United States
Document type	Case Reports
ZDB-ID	2750180-2
ISSN	2051-3380
ISSN	2051-3380
DOI	10.1002/rcr2.330
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Article ; Online: Hawaiian coral holobionts reveal algal and prokaryotic host specificity, intraspecific variability in bleaching resistance, and common interspecific microbial consortia modulating thermal stress responses.

Núñez-Pons, Laura / Cunning, Ross / Nelson, Craig E / Amend, Anthony S / Sogin, E Maggie / Gates, Ruth / Ritson-Williams, Raphael

The Science of the total environment

2023 Volume 889, Page(s) 164040

Abstract: Historically, Hawai'i had few massive coral bleaching events, until two consecutive heatwaves in 2014-2015. Consequent mortality and thermal stress were observed in Kāne'ohe Bay (O'ahu). The two most dominant local species exhibited a phenotypic ... ...

Abstract	Historically, Hawai'i had few massive coral bleaching events, until two consecutive heatwaves in 2014-2015. Consequent mortality and thermal stress were observed in Kāne'ohe Bay (O'ahu). The two most dominant local species exhibited a phenotypic dichotomy of either bleaching resistance or susceptibility (Montipora capitata and Porites compressa), while the third predominant species (Pocillopora acuta) was broadly susceptible to bleaching. In order to survey shifts in coral microbiomes during bleaching and recovery, 50 colonies were tagged and periodically monitored. Metabarcoding of three genetic markers (16S rRNA gene ITS1 and ITS2) followed by compositional approaches for community structure analysis, differential abundance and correlations for longitudinal data were used to temporally compare Bacteria/Archaea, Fungi and Symbiodiniaceae dynamics. P. compressa corals recovered faster than P. acuta and Montipora capitata. Prokaryotic and algal communities were majorly shaped by host species, and had no apparent pattern of temporal acclimatization. Symbiodiniaceae signatures were identified at the colony scale, and were often related to bleaching susceptibility. Bacterial compositions were practically constant between bleaching phenotypes, and more diverse in P. acuta and M. capitata. P. compressa's prokaryotic community was dominated by a single bacterium. Compositional approaches (via microbial balances) allowed the identification of fine-scale differences in the abundance of a consortium of microbes, driving changes by bleaching susceptibility and time across all hosts. The three major coral reef founder-species in Kāne'ohe Bay revealed different phenotypic and microbiome responses after 2014-2015 heatwaves. It is difficult to forecast, a more successful strategy towards future scenarios of global warming. Differentially abundant microbial taxa across time and/or bleaching susceptibility were broadly shared among all hosts, suggesting that locally, the same microbes may modulate stress responses in sympatric coral species. Our study highlights the potential of investigating microbial balances to identify fine-scale microbiome changes, serving as local diagnostic tools of coral reef fitness.
MeSH term(s)	Animals ; Anthozoa/physiology ; Hawaii ; Microbial Consortia ; Host Specificity ; RNA, Ribosomal, 16S/genetics ; Dinoflagellida ; Bacteria/genetics
Chemical Substances	RNA, Ribosomal, 16S
Language	English
Publishing date	2023-05-18
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2023.164040
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Article ; Online: Improving health literacy through group antenatal care: results from a cluster randomized controlled trial in Ghana.

Lori, Jody R / Kukula, Vida Ami / Liu, Liya / Apetorgbor, Veronica E A / Ghosh, Bidisha / Awini, Elizabeth / Lockhart, Nancy / Amankwah, Georgina / Zielinski, Ruth / Moyer, Cheryl A / Williams, John

BMC pregnancy and childbirth

2024 Volume 24, Issue 1, Page(s) 37

Abstract: Background: Although the majority of Ghanaian women receive antenatal care (ANC), many exhibit low health literacy by misinterpreting and incorrectly operationalizing ANC messages, leading to poor maternal and newborn health outcomes. Prior research in ... ...

Abstract	Background: Although the majority of Ghanaian women receive antenatal care (ANC), many exhibit low health literacy by misinterpreting and incorrectly operationalizing ANC messages, leading to poor maternal and newborn health outcomes. Prior research in low-resource settings has found group antenatal care (G-ANC) feasible for women and providers. This study aims to determine the effect of G-ANC on increasing maternal health literacy. We hypothesized that pregnant women randomized into G-ANC would exhibit a greater increase in maternal health literacy than women in routine, individual ANC. Methods: A 5-year cluster randomized controlled trial was conducted in 14 rural and peri-urban health facilities in the Eastern Region of Ghana. Facilities were paired based on patient volume and average gestational age at ANC enrollment and then randomized into intervention (G-ANC) vs. control (routine, individual ANC); 1761 pregnant women were recruited. Data collection occurred at baseline (T0) and post-birth (T2) using the Maternal Health Literacy scale, a 12-item composite scale to assess maternal health literacy. Logistic regression compared changes in health literacy from T0 to T2. Results: Overall, women in both the intervention and control groups improved their health literacy scores over time (p < 0.0001). Women in the intervention group scored significantly higher on 3 individual items and on overall composite scores (p < 0.0001) and were more likely to attend 8 or more ANC visits. Conclusion: While health literacy scores improved for all women attending ANC, women randomized into G-ANC exhibited greater improvement in overall health literacy post-birth compared to those receiving routine individual care. Life-saving information provided during ANC must be presented in an understandable format to prevent women and newborns from dying of preventable causes. Trial registry: Ethical approval for the study was obtained from the Institutional Review Boards of the University of Michigan (HUM#00161464) and the Ghana Health Service (GHS-ERC: 016/04/19).
MeSH term(s)	Infant, Newborn ; Pregnancy ; Female ; Humans ; Health Literacy ; Prenatal Care ; Ghana ; Data Collection ; Family
Language	English
Publishing date	2024-01-05
Publishing country	England
Document type	Randomized Controlled Trial ; Journal Article
ZDB-ID	2059869-5
ISSN	1471-2393 ; 1471-2393
ISSN (online)	1471-2393
ISSN	1471-2393
DOI	10.1186/s12884-023-06224-x
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Article: Effects of a games-based physical education lesson on cognitive function in adolescents.

Gilbert, Luke M / Dring, Karah J / Williams, Ryan A / Boat, Ruth / Sunderland, Caroline / Morris, John G / Nevill, Mary E / Cooper, Simon B

Frontiers in psychology

2023 Volume 14, Page(s) 1098861

Abstract: Despite the importance of physical education (PE) lessons for physical activity in adolescents, the acute cognitive responses to PE lessons have not been explored; a gap in the literature that this study addresses. Following familiarisation, 76 (39 ... ...

Abstract	Despite the importance of physical education (PE) lessons for physical activity in adolescents, the acute cognitive responses to PE lessons have not been explored; a gap in the literature that this study addresses. Following familiarisation, 76 (39 female) adolescents (12.2 ± 0.4 y) completed two trials (60 min games-based PE lesson and 60 min academic lesson) separated by 7-d in a counterbalanced, crossover design. Attention, executive function, working memory, and perception were assessed 30 min before, immediately post, and 45 min post-lesson in both trials. Participants were split into high-and low-fit groups based on a gender-specific median split of distance run on the multi-stage fitness test. Furthermore, participants were split into high and low MVPA groups based on a gender-specific median split of MVPA time (time spent >64% HR max) during the PE lesson. Overall, a 60 min games-based PE lesson had no effect on perception, working memory, attention, or executive function in adolescents (all
Language	English
Publishing date	2023-03-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2563826-9
ISSN	1664-1078
ISSN	1664-1078
DOI	10.3389/fpsyg.2023.1098861
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