bluuebunny/crossref_metadata_2025_split huggingface dataset:
Anticipated time to seek medical advice for possible lung cancer symptoms and barriers to timely presentation in Palestine: a national cross-sectional study
Authors: Elshami Mohamedraed , Sawafta Nawras , Mansour Ahmad , Alser Mohammed , Al-Slaibi Ibrahim , Abukmail Hanan , Shurrab Hanan , Qassem Shahd , Usrof Faten Darwish , Alruzayqat Malik , Aqel Wafa , Nairoukh Roba , Kittaneh Rahaf , Habes Yousef Mahmoud Nimer , Ghanim Obaida , Aabed Wesam Almajd , Omar Ola , Daraghma Motaz , Aljbour Jumana , Elian Razan E. M. , Zuhour Areen , Habes Haneen , Al-Dadah Mohammed , Albarqi Shurouq I. , Bottcher Bettina , Abu-El-Noor Nasser 
Published: February 2024

Abstract
Background
Lung cancer (LC) has poor survival outcomes mainly due to diagnosis at late stages. This study explored the anticipated time to seek medical advice for possible LC symptoms and barriers to early presentation in Palestine.

Methods
This cross-sectional study recruited adult participants from hospitals, primary healthcare centers, and public spaces of 11 governorates using convenience sampling. A modified, translated-into-Arabic version of the validated LC awareness measure was used to assess LC symptom awareness, the time needed to seek medical advice and barriers to early presentation.

Results
A total of 4762 participants were included. The proportion that would immediately seek medical advice for possible LC symptoms varied according to the symptoms’ nature. For respiratory symptoms, this ranged from 15.0% for ‘painful cough’ to 37.0% for ‘coughing up blood’. For non-respiratory symptoms, this ranged from ‘4.2% for ‘unexplained loss of appetite’ to 13.8% for ‘changes in the shape of fingers or nails’. Participants with good LC symptom awareness were more likely to seek medical advice within a week of recognizing most LC symptoms. About 13.0% would delay their visit to see a doctor after recognizing an LC symptom. The most reported barriers were emotional with ‘disliking the visit to healthcare facilities’ (59.8%) as the leading barrier.

Conclusion
LC respiratory symptoms were more likely to prompt early seeking of medical advice. Good LC symptom awareness was associated with a higher likelihood of help-seeking within a week. Educational interventions are needed to promote LC awareness and address the perceived barriers to early presentation in low-resource settings, such as Palestine.
Identifying and developing strategies for implementation of a guided internet- and mobile-based infant sleep intervention in well-baby and community mental health clinics using group concept mapping
Authors: Drozd Filip , Pettersen Sandtrø Hege , Leksbø Turid Skjerve , Haga Silje Marie , Jacobsen Heidi , Størksen Hege Therese 
Published: February 2024

Abstract
Background
This study aimed to identify strategies for the implementation of a guided internet- and mobile-based intervention (IMI) for infant sleep problems (“Sleep Well, Little Sweetheart”) in well-baby and community mental health clinics.

Study design
We used group concept mapping, a two-phased mixed methods approach, conducted as a two-day workshop in each clinic. We recruited 20 participants from four clinics and collected sorting and rating data for implementation strategies based on the Expert Recommendations for Implementing Change taxonomy and brainstorming sessions. Data were analyzed using descriptive statistics, multidimensional scaling, and hierarchical cluster analysis to create cluster maps, laddergrams, and Go-Zone graphs. Participants were presented with the results and discussed and interpreted the findings at each of the clinics in spring 2022.

Results
Participants identified 10 clusters of strategies, of which Training, Embedding and Coherence, User Involvement and Participation, and Clinician Support and Implementation Counseling were rated as most important and feasible. Economy and Funding and Interactive and Interdisciplinary Collaboration were rated significantly lower on importance and feasibility compared to many of the clusters (all ps < 0.05). There was a correlation between the importance and feasibility ratings (r =.62, p =.004).

Conclusions
The use of group concept mapping made it possible to efficiently examine well-baby and community clinics’ perspectives on complex issues, and to acquire specific knowledge to allow for the planning and prioritization of strategies for implementation. These results suggest areas of priority for the implementation of IMIs related to infant sleep problems.

Trial registration
The study was pre-registered at Open Science Framework (www.osf.io/emct8).
Distribution and prevalence of ixodid tick species (Acari: Ixodidae) infesting cattle in Karamoja region of northeastern Uganda
Authors: Etiang Patrick , Musoba Abubakar , Nalumenya David , Ndekezi Christian , Bbira Johnson , Ochwo Sylvester , Tweyongyere Robert , Muhanguzi Dennis 
Published: February 2024

Abstract
Background
Ticks and tick-borne diseases (TTBDs) are a significant threat to livestock production in sub-Saharan Africa. Transhumance pastoralism practiced in Karamoja region and other factors like cattle trade, communal grazing and the presence of wildlife predispose cattle to TTBDs. Tick species abundance and distribution data can be used as a tool for early disease diagnosis and inform tick control strategies. However, these data for north-eastern Uganda are currently limited; previous surveys were relatively localized and targeted fewer cattle kraals and numbers.

Methods
We randomly collected tick specimens from 1,534 cattle spread across Karamoja region in both the peak month of the rainy (May 2020) and the dry (February2021) seasons. The ticks were identified using morpho-taxonomic keys and the tick species identities confirmed by the 16 S rRNA gene sequencing and phylogenetic analysis.

Results
A collection of 18,637 ticks was examined and fifteen tick species from three genera (ten Rhipicephalus; three Amblyomma; two Hyalomma species) were identified. Rhipicephalus appendiculatus was the most dominant (37.9%) tick species, followed by Amblyomma variegatum (32.3%); A. lepidum (17.3%); R. evertsi evertsi (7.8%); and R. decoloratus (1.4%). Eight of these tick species were ubiquitous in the study districts while six were found in isolated areas. The peak month of the dry season collection was associated with a higher proportion of tick-infested cattle (91%) compared to the peak month of the rainy season (89.8%); a difference that was not found statistically significant (χ2 = 0.5077, n = 1385, p = 0.476). The overall cattle infestation rate was mainly dominated by five tick species namely: A. variegatum (55%), R. appendiculatus (53%), A. lepidum (41%), R. evertsi (22%), and R. decoloratus (8%). The proportion of tick-infested cattle was highest in Napak District (95.4%) and lowest in Amudat District (80.9%) during the peak month of the rainy season. Napak and Amudat Districts also had the highest and lowest proportion of tick-infested cattle (94.8% and 80.7% respectively) during the peak month of the dry season. Rhipicephalus microplus was confirmed in Amudat, Kaabong and Napak districts.

Conclusion
This study demonstrates high tick infestation rates in cattle by a battery of tick species in Karamoja region. We identified both R. microplus and R. decoloratus which indicates that R. microplus has recently been introduced in this region. This calls for effective tick control responses to prevent further spread of this invasive cattle tick specie.
Abnormal interlimb coordination of motor developmental delay during infant crawling based on kinematic synergy analysis
Authors: Zhang Li , Xu Chong , Chen Lin , Liu Yuan , Xiao Nong , Wu Xiaoying , Chen Yuxia , Hou Wensheng 
Published: February 2024

Abstract
Background
Previous studies have reported that abnormal interlimb coordination is a typical characteristic of motor developmental delay (MDD) during human movement, which can be visually manifested as abnormal motor postures. Clinically, the scale assessments are usually used to evaluate interlimb coordination, but they rely heavily on the subjective judgements of therapists and lack quantitative analysis. In addition, although abnormal interlimb coordination of MDD have been studied, it is still unclear how this abnormality is manifested in physiology-related kinematic features.

Objectives
This study aimed to evaluate how abnormal interlimb coordination of MDD during infant crawling was manifested in the stability of joints and limbs, activation levels of synergies and intrasubject consistency from the kinematic synergies of tangential velocities of joints perspective.

Methods
Tangential velocities of bilateral shoulder, elbow, wrist, hip, knee and ankle over time were computed from recorded three-dimensional joint trajectories in 40 infants with MDD [16 infants at risk of developmental delay, 11 infants at high risk of developmental delay, 13 infants with confirmed developmental delay (CDD group)] and 20 typically developing infants during hands-and-knees crawling. Kinematic synergies and corresponding activation coefficients were derived from those joint velocities using the non-negative matrix factorization algorithm. The variability accounted for yielded by those synergies and activation coefficients, and the synergy weightings in those synergies were used to measure the stability of joints and limbs. To quantify the activation levels of those synergies, the full width at half maximum and center of activity of activation coefficients were calculated. In addition, the intrasubject consistency was measured by the cosine similarity of those synergies and activation coefficients.

Results
Interlimb coordination patterns during infant crawling were the combinations of four types of single-limb movements, which represent the dominance of each of the four limbs. MDD mainly reduced the stability of joints and limbs, and induced the abnormal activation levels of those synergies. Meanwhile, MDD generally reduced the intrasubject consistency, especially in CDD group.

Conclusions
These features have the potential for quantitatively evaluating abnormal interlimb coordination in assisting the clinical diagnosis and motor rehabilitation of MDD.
Neuroendocrine and squamous cell phenotypes of NUT carcinoma are potential diagnostic pitfalls that discriminating it from mimickers, such as small cell and squamous cell carcinoma
Authors: Ninomiya Hironori , Sato Yukiko , Inamura Kentaro , Dobashi Akito , Takeuchi Kengo , Mitani Hiroki , Mun Mingyon , Nishio Makoto , Ishikawa Yuichi 
Published: February 2024

Abstract
Introduction
NUT carcinoma is a rare cancer associated with a poor prognosis. Because of its rarity, its diagnosis is challenging and is usually made by excluding other diagnoses. Immunohistochemical analysis is a reliable technique that contributes to a correct diagnosis, but overestimating the expression of neuroendocrine (NE) markers may result in an incorrect diagnosis. In this study, we established the immunohistochemical phenotypes of NUT carcinoma compared with tumors that mimic its phenotype to identify potential diagnostic pitfalls.

Methods
Eight cases of NUT carcinoma were examined along with eight basaloid squamous cell carcinomas and thirteen cases of small cell carcinoma using an immunohistochemical panel consisting of various antibodies.

Results
Of the eight NUT carcinomas, three patients had a smoking history. All the cases examined for INSM1 were positive (6/6, 100%), although the staining was somewhat weak. Among the NE markers, synaptophysin was variably positive in two NUT carcinomas (2/6, 33%); however, all cases were negative for ASCL1, chromogranin A, and CD56. Moreover, the squamous cell markers, p40 and CK5/6, were weakly expressed in 4/6 (67%) and 3/6 (50%) of the NUT carcinomas, respectively.

Conclusions
For tumors with an ambiguous morphology, applying the neuroendocrine phenotype of NUT carcinoma may be misleading; particularly, when distinguishing it from small-cell carcinoma. Similarly, null or weak expression of squamous cell markers may be observed in NUT carcinoma, but this differs from squamous cell carcinoma, which consistently demonstrates strong positivity for squamous cell markers.
Oxygenation influences xylose fermentation and gene expression in the yeast genera Spathaspora and Scheffersomyces
Authors: Barros Katharina O. , Mader Megan , Krause David J. , Pangilinan Jasmyn , Andreopoulos Bill , Lipzen Anna , Mondo Stephen J. , Grigoriev Igor V. , Rosa Carlos A. , Sato Trey K. , Hittinger Chris Todd 
Published: February 2024

Abstract
Background
Cost-effective production of biofuels from lignocellulose requires the fermentation of d-xylose. Many yeast species within and closely related to the genera Spathaspora and Scheffersomyces (both of the order Serinales) natively assimilate and ferment xylose. Other species consume xylose inefficiently, leading to extracellular accumulation of xylitol. Xylitol excretion is thought to be due to the different cofactor requirements of the first two steps of xylose metabolism. Xylose reductase (XR) generally uses NADPH to reduce xylose to xylitol, while xylitol dehydrogenase (XDH) generally uses NAD+ to oxidize xylitol to xylulose, creating an imbalanced redox pathway. This imbalance is thought to be particularly consequential in hypoxic or anoxic environments.

Results
We screened the growth of xylose-fermenting yeast species in high and moderate aeration and identified both ethanol producers and xylitol producers. Selected species were further characterized for their XR and XDH cofactor preferences by enzyme assays and gene expression patterns by RNA-Seq. Our data revealed that xylose metabolism is more redox balanced in some species, but it is strongly affected by oxygen levels. Under high aeration, most species switched from ethanol production to xylitol accumulation, despite the availability of ample oxygen to accept electrons from NADH. This switch was followed by decreases in enzyme activity and the expression of genes related to xylose metabolism, suggesting that bottlenecks in xylose fermentation are not always due to cofactor preferences. Finally, we expressed XYL genes from multiple Scheffersomyces species in a strain of Saccharomyces cerevisiae. Recombinant S. cerevisiae expressing XYL1 from Scheffersomyces xylosifermentans, which encodes an XR without a cofactor preference, showed improved anaerobic growth on xylose as the primary carbon source compared to S. cerevisiae strain expressing XYL genes from Scheffersomyces stipitis.

Conclusion
Collectively, our data do not support the hypothesis that xylitol accumulation occurs primarily due to differences in cofactor preferences between xylose reductase and xylitol dehydrogenase; instead, gene expression plays a major role in response to oxygen levels. We have also identified the yeast Sc. xylosifermentans as a potential source for genes that can be engineered into S. cerevisiae to improve xylose fermentation and biofuel production.
The great gerbil (Rhombomys opimus) as a host for tick species in Gurbantunggut Desert
Authors: Liu Gang , Tan Wenbo , Wang Huiqian , Han Xiaoshuang , Hornok Sándor , Zhao Shanshan , Mi Ligu , Wang Suwen , Yang Meihua , Wang Yuanzhi 
Published: February 2024

Abstract
Background
Rodents play an important role in the life cycle of ixodid and argasid ticks, particularly as hosts of larvae and nymphs. The great gerbil (Rhombomys opimus), the preferred prey item of several carnivores (e.g. the red fox and marbled polecat), is the dominant rodent species in the Gurbantunggut Desert in northwestern China. The aim of this study was to investigate tick species associated with different hosts in the habitat of great gerbils, including wildlife and livestock.

Methods
During 2018–2023, ticks were removed from 326 great gerbils, two red foxes (Vulpes vulpes), three marbled polecats (Vormela peregusna), 35 pastured sheep (Ovis aries), and one long-eared desert hedgehog (Hemiechinus auritus) in the Gurbantunggut Desert. Ticks were identified according to standard morphological keys. Then, they were further analyzed by molecular and phylogenic methods based on two mitochondrial markers, 16S rDNA and cytochrome c oxidase subunit I (COI) genes.

Results
A total of 889 ticks were collected, representing five species. These included Hyalomma asiaticum (n = 425: 24 larvae, 79 nymphs and 322 adults), Rhipicephalus turanicus (n = 153: 2 nymphs and 151 adults), Haemaphysalis erinacei (n = 298: 4 larvae, 7 nymphs and 287 adults), Ixodes acuminatus (n = 7: 4 nymphs and 3 adults) and Ornithodoros tartakovskyi (6 adults). Based on COI sequences, molecular and phylogenetic analyses showed that (i) I. acuminatus from great gerbils and marbled polecats clustered with I. acuminatus reported from Europe; (ii) O. tartakovskyi found in northwestern China belonged to an independent clade; (iii) Hy. asiaticum, R. turanicus and Ha. erinacei had 100% sequence identities to conspecific ticks sampled previously in China.

Conclusions
The great gerbil is an important host for the developmental stages of I. acuminatus, O. tartakovskyi, Ha. erinacei, Hy. asiaticum and R. turanicus, thus supporting the life cycle of several tick species which, as adults, parasitize predators (red fox and marble polecat) as well as pastured sheep and hedgehogs in the Gurbantunggut Desert. Ixodes acuminatus and O. tartakovskyi were found for the first time on great gerbil and marbled polecat, respectively.

Graphical Abstract
Three-year progression-free survival of a patient with concomitant mucinous adenocarcinoma of the colon with peritoneal dissemination and multiple myeloma who received lenalidomide: a case report
Authors: Tamai Koki , Hirose Hajime , Akazawa Yo , Yoshikawa Yukihiro , Nomura Masatoshi , Takeyama Hiroshi , Tokunaga Masahiro , Tei Mitsuyoshi , Okamura Shu , Akamaru Yusuke 
Published: February 2024

Abstract
Background
Concomitant multiple myeloma (MM) and other primary malignancies is rare. Therefore, the treatment outcomes of patients with these conditions have not been well discussed. Lenalidomide is an oral thalidomide analog drug used for MM. Recently, the antitumor effect of lenalidomide has been gaining attention, and lenalidomide has been applied for managing solid tumors. The current case showed the treatment course of a patient treated with lenalidomide for concomitant MM and colon cancer with peritoneal dissemination.

Case presentation
A 74-year-old female patient receiving treatment for MM was diagnosed with mucinous adenocarcinoma of the transverse colon. The patient was clinically diagnosed with stage IIIC T4aN2M0 disease. Subsequently, laparoscopic colectomy with lymph node dissection was planned. However, intraperitoneal observation revealed peritoneal dissemination that had sporadically and widely spread. Therefore, palliative partial colectomy was performed to prevent future hemorrhage or obstruction. The patient was discharged on the 10th postoperative day without postoperative complication. Based on the patient’s preference, lenalidomide was continually administered for MM without systemic chemotherapy. The patient survived for > 36 months without any signs of tumor progression.

Conclusion
The current case first showed the treatment course of concomitant MM and colon cancer. The antitumor effect of lenalidomide can possibly contribute to 3-year progression-free survival in patients with mucinous adenocarcinoma of the colon with peritoneal dissemination.
Correlation of iron deficiency indexes with Eradication and Recurrence of Helicobacter Pylori Infection in Children
Authors: Liu Xiao , Zhang Yuanda , Dong Qingwei , Deng Hongyu , Bi Jing 
Published: February 2024

Objective: To explore the correlation of iron deficiency (ID) indexes with eradication and recurrence of Helicobacter pylori (Hp) infection in children.
Methods: This is a clinical comparative study. One hundred and twenty-six children who were first diagnosed as Hp infection in Baoding Children’s Hospital (Hp infection group); and the control group included 200 children without Helicobacter Pylori infection (negative stool Hp antigen test and/or 13C-urea breath test) in local region at the same time from January 2020 to January 2022. Enrolled children were subjected to routine blood test, serum ferritin (SF), serum iron (SI) and total iron binding capacity (TIBC) detection. Meanwhile, children with Hp infection were given triple therapy for eradication and followed up for one year.
Results: The levels of SI, SF and Hb in non-eradication group were lower than those in eradication group (P<0.05); while TIBC level in the former group was higher than that in the latter group (P<0.05). Furthermore, SF level in the recurrence group was lower than that in the non-recurrence group (P<0.05). While there was no significant difference in Hb, SI and TIBC levels between the recurrence group and the non-recurrence group (P>0.05).
Conclusion: Low level of SF may be a risk factor for difficulty in eradication and recurrence after eradication in children with Hp infection. Meanwhile, low levels of Hb and SI are influential factors for difficulty in eradication in children with Hp infection.
doi: https://doi.org/10.12669/pjms.40.4.7816
How to cite this: Liu X, Zhang Y, Dong Q, Deng H, Bi J. Correlation of iron deficiency indexes with Eradication and Recurrence of Helicobacter Pylori Infection in Children. Pak J Med Sci. 2024;40(4):674-678. doi: https://doi.org/10.12669/pjms.40.4.7816
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family
Authors: Naseer Muhammad Imran , Absarul Haq  
Published: February 2024

We identified the PACS2 gene responsible for the multifunctional sorting protein that play a role in nuclear gene expression as well as pathway traffic regulation. Diseases associated with PACS2 include early infantile epileptic encephalopathy (EIEE66), alacrima, achalasia, and mental retardation syndrome. Whole exome sequencing (WES) technique was used for the identification of variants that may lead to the disease. We identified a consanguineous Saudi family segregating developmental delay, mental retardation and epilepsy. Our results showed a heterozygous missense variant PACS2 gene leading to intellectual disability, epilepsy and cause epileptic encephalopathies (EIEE66) disorder. WES data was analyzed and identified variants were further confirmed by Sanger sequencing validation technique. We identified a heterozygous missense c.625G>A p.Glu209Lys in exon-6 of PACS2. The detected heterozygous mutation in the exon-6 region of PACS2 gene change the protein features and may cause disease. Further, explain the possibility that PACS2 gene play important role to cause intellectual disability, epilepsy and epileptic encephalopathies in this Saudi family.
doi: https://doi.org/10.12669/pjms.40.4.8707
How to cite this: Haque A, Naseer MI. A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family. Pak J Med Sci. 2024;40(4):782-784. doi: https://doi.org/10.12669/pjms.40.4.8707
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.