bluuebunny/crossref_metadata_2025_split huggingface dataset:
Arthrogryposis multiplex congenita with maxillofacial involvement: a case report
Authors: Cirillo Stefano , Regge Daniele , Garagiola Umberto , Tortarolo Alessandro , Iorio Giuseppe Carlo , Spahiu Orges , Piancino Maria Grazia 
Published: February 2023

Abstract
Background
Arthrogryposis multiplex congenita is a rare condition that mainly involves the lower limbs, characterized by severe joint deformity and contracture, muscular atrophy, and functional impairment. Its clinical manifestations are heterogenous and may involve the maxillofacial district as well.

Case presentation
This case report describes a 20-year-old patient with arthrogryposis multiplex congenita with skeletal crossbite, facial asymmetry, reduced mouth opening and absence of lateral mandibular movement on the left side. After clinical evaluation, the following exams were required: postero-anterior cephalometric tracing, head and neck electromyography, computerized axiography, computed tomography scan, and maxillofacial magnetic resonance imaging. Orthognathodontic evaluation indicated skeletal asymmetry, reduced condylar movements on the left side and abnormally low electromyography activity of the masticatory muscles on the left side. Computed tomography and magnetic resonance imaging revealed unilateral left mandibular hypoplasia, hypotrophy, and fatty infiltration of masticatory muscles on the left side, as well as immobility of the left condyle during mouth opening, and hypoplasia of the left articular disk, which was however not displaced. Surgery was not indicated and conservative orthognathodontic treatment with function generating bite was suggested to balance the occlusal plane, as well as stretching exercises.

Conclusions
A rare case of arthrogryposis multiplex congenita with maxillofacial involvement illustrates that a patient-centred, multidisciplinary approach with accurate diagnosis is required to formulate the best treatment plan. Because of the considerable damage to the masticatory muscles, conservative orthognathodontic therapy may be the best treatment option.
Visual and quantitative assessment of hip implant-related metal artifacts at low field MRI: a phantom study comparing a 0.55-T system with 1.5-T and 3-T systems
Authors: Breit Hanns-Christian , Vosshenrich Jan , Clauss Martin , Weikert Thomas J. , Stieltjes Bram , Kovacs Balázs K. , Bach Michael , Harder Dorothee 
Published: February 2023

Abstract
Background
To investigate hip implant-related metal artifacts on a 0.55-T system compared with 1.5-T and 3-T systems.

Methods
Total hip arthroplasty made of three different alloys were evaluated in a water phantom at 0.55, 1.5, and 3 T using routine protocols. Visually assessment (VA) was performed by three readers using a Likert scale from 0 (no artifacts) to 6 (extremely severe artifacts). Quantitative assessment (QA) was performed using the coefficient of variation (CoV) and the fraction of voxels within a threshold of the mean signal intensity compared to an automatically defined region of interest (FVwT). Agreement was evaluated using intra/inter-class correlation coefficient (ICC).

Results
Interreader agreement of VA was strong-to-moderate (ICC 0.74−0.82). At all field strengths (0.55-T/1.5-T/3-T), artifacts were assigned a lower score for titanium (Ti) alloys (2.44/2.9/2.7) than for stainless steel (Fe-Cr) (4.1/3.9/5.1) and cobalt-chromium (Co-Cr) alloys (4.1/4.1/5.2) (p < 0.001 for both). Artifacts were lower for 0.55-T and 1.5-T than for 3-T systems, for all implants (p ≤ 0.049). A strong VA-to-QA correlation was found (r = 0.81; p < 0.001); CoV was lower for Ti alloys than for Fe-Cr and Co-Cr alloys at all field strengths. The FVwT showed a negative correlation with VA (-0.68 < r < -0.84; p < 0.001).

Conclusions
Artifact intensity was lowest for Ti alloys at 0.55 T. For other alloys, it was similar at 0.55 T and 1.5 T, higher at 3 T. Despite an inferior gradient system and a larger bore width, the 0.55-T system showed the same artifact intensity of the 1.5-T system.
Determinants of the quality of life in Egyptian patients with cerebrovascular stroke by using the stroke specific QoL questionnaire
Authors: Aziz Arjuman Mohamed , Rizian Alice Edwar , Tawfik Fayza Mohamed , Mekky Jaidaa Farouk 
Published: February 2023

Abstract
Background
Stroke is a neurological disorder resulting from a sudden decline in blood flow to a localized area of the brain. It is the second most common cause of death and the third most common cause of disability worldwide. Quality of life (QOL) is increasingly being used as an outcome measure designed to evaluate the quality of care for patients with stroke.

Objective
The study aims to assess the quality of life of cerebrovascular stroke patients in Alexandria, Egypt.

Methods
A descriptive crossover study was held on 80 adult cerebrovascular stroke patients admitted to the stroke unit at (Elhadra) University Hospital, Neuropsychiatry Department, and the outpatient clinics at the Main University Hospital.

Result
The main result of study revealed that there was a highly significant relation between socio-demographic characteristics and the patient’s quality of life (QOL), especially age, employment status, and the monthly income, the overall QOL (P < 0.05).

Recommendation
The study recommended that design health education program to raise stroke patient QOL, design program to improve care giver attitude toward stroke patient, collaborative efforts among the governmental agencies to improve the educational level of the citizens, further studies to examine QOL on larger group of patients to generalize the results.
Systematic combinations of major cannabinoid and terpene contents in Cannabis flower and patient outcomes: a proof-of-concept assessment of the Vigil Index of Cannabis Chemovars
Authors: Vigil Jacob Miguel , Stith Sarah See , Brockelman Franco , Keeling Keenan , Hall Branden 
Published: February 2023

Abstract
Background
Little is known about the frequency with which different combinations of phytochemicals (chemovars) arise in Cannabis flower or whether common chemovars are associated with distinct pharmacodynamics and patient health outcomes. This study created a clinically relevant, user-friendly, scalable chemovar indexing system summarizing primary cannabinoid and terpene contents and tested whether the most frequently consumed chemovars differ in their treatment effectiveness and experienced side effects.

Methods
Between 09/10/2016 and 03/11/2021, 204 people used the freely available, educational mobile software application, Releaf App, to record 6309 real-time consumption sessions using 633 distinct Cannabis flower products, unique at the user level, with terpene and cannabinoid potency information. The indexing system is based on retrospective data analysis of the products’ primary and secondary terpene contents and tetrahydrocannabinol (THC) and cannabidiol (CBD) potencies and yielded a total of 478 distinct chemovars. Analyses of covariances (ANCOVAs) were used to compare symptom levels and side effects experienced across the five most common chemovars before and after cannabis consumption for app users overall and for those treating chronic pain and depression or anxiety.

Results
Examination of the five most frequently consumed chemovars showed significant differences in symptom treatment effectiveness for chronic pain and for depression and anxiety (ps < .001). While the effects varied in magnitude, the five chemovars were effective across conditions except for MC61 (mercene .01–0.49%/beta-caryophyllene .01 to 0.49%/THC 20–25%/CBD 0.01–1.0%), which exacerbated feelings of anxiety or depression. The chemovars also differed in their association with experiencing positive, negative, and context-specific side effects, with two chemovars, MC61 and MC62 (mercene .01–0.49%/beta-caryophyllene .01–0.49%/THC 20–25%/CBD 1–5%), generating two to three fewer positive side effects and as much as one more negative and two more context-specific side effects than the other three chemovars.

Conclusions
The findings provide “proof-of-concept” that a simple, yet comprehensive chemovar indexing system can be used to identify systematic differences in clinically relevant patient health outcomes and other common experiences across Cannabis flower products, irrespective of the product’s commercial or strain name. This study was limited by self-selection into cannabis and app use and a lack of user-specific information. Further research using this chemovar indexing system should assess how distinct combinations of phytochemicals interact with user-level characteristics to produce general and individualized Cannabis consumption experiences and health outcomes, ideally using randomized methods to assess differences in effects across chemovars.
Impact of chronic war trauma exposure on PTSD diagnosis from 2006 -2021: a longitudinal study in Palestine
Authors: Altawil Mohamed A. S. , El-Asam Aiman , Khadaroo Ameerah 
Published: February 2023

Abstract
Background
Trauma and Post-Traumatic Stress Disorders (PTSD) are a common result of the occurrence of natural and man-made disasters, the refugees are one of these traumas in which some resulted from political conflicts. Today, Palestinians are the largest refugee population in the world after the Nakba in 1948. This study aims to discover the impact of chronic war traumas on PTSD diagnosis and symptoms from 2006 to 2021. The current study is a follow-up of 607 adolescents and adults, aged between 10–30 years of which are also those children who participated in the 2006 study. This research used an adapted PTSD scale (PTSD-SRII, 33 items) from a validated original questionnaire developed by Altawil in 2008 to measure PTSD based on symptoms reported in DSM-IV and ICD-10.

Results
The main findings show at least 97.2% of participants had experienced at least 6 traumatic experiences up to the year 2006 and 100% of the participants were exposed to traumas in 2021. This study found four categories of responses to chronic war trauma: (a) Acute group (n = 321, 52.9%) shows high PTSD symptoms in 2006 and in 2021; (b) Remitters group (n = 54, 8.9%) shows high PTSD symptoms in 2006 but did not show significant PTSD symptoms in 2021; (c) Delayed group (n = 204, 33.6%) shows no PTSD symptoms in 2006 but showed significant PTSD symptoms in 2021; (d) Resilient group (n = 28, 4.6%) had no PTSD symptoms in 2006 and did not show PTSD symptoms in 2021.

Conclusions
The authors conclude that Palestinian children, youth, adults and their families in the Gaza Strip are continually at a huge risk of developing PTSD and other psychological problems.
This means that Palestinians will suffer for a long time from PTSD, which should be called Chronic Traumatic Stress Disorder (CTSD) rather than PTSD. This PTSD or CTSD cannot be changed unless the root of the problem is solved by ending the 74 years of living under occupation.
Assessment of pharmacovigilance activities among pharmacist interns in Nigeria: a cross-sectional study
Authors: Eze Shadrach Chinecherem , Odoh Evaristus Chinonso , Eze Kingsley Chinemerem , Arugo Wisdom Enyinnaya , Ozota Gerald Obinna , Anyaji Ugomma Loveth , Mbakamma Chidimma Elizabeth , Magbo Collins Chukwuemeka , Ofili Samuel Chijioke , Amaechi Victor Chikaodiri , Nwiyi Chimaobi Jude , Onyesoro Joy Chekwube , Etukudo Uwakmfon Bassey , Odoh Cornelius Chinedum , Kalu Loveth Onyinyechi , Eze Caleb Febechukwu 
Published: February 2023

Abstract
Background
Pharmacovigilance (PV) and adverse drug reaction (ADR) reporting is at the core of the services and functions of a pharmacist. Pharmacist interns undergoing their one-year mandatory internship program are expected to be armed with this tool kit in order to provide adequate pharmaceutical services in all areas of pharmacy practice.

Objectives
This study sought to assess the knowledge and perception of pharmacovigilance and adverse drug reaction reporting among pharmacist interns in Nigeria.

Methods
This study was a cross-sectional study among pharmacist interns in their one-year mandatory internship program across Nigeria. The 32-item semi-structured questionnaires were administered online using simple random sampling with the snowballing technique to recruit the participants in the study. The results were analyzed with IBM SPSS version 25. Descriptive statistics were used to summarize the data. The Chi-square test and contingency coefficient were used to determine the association between knowledge of PV and the demographics of the participants.

Results
A total of 450 pharmacist interns participated in this study. The participants' knowledge of pharmacovigilance and ADR is 92.5%. About 96.2% of respondents feel that responses to newly released pharmaceuticals must be recorded, compared to 79.1% for older drugs already on the market. There is a high correlation between the duration of the internship program and understanding of PV and ADR reporting among participants. More than fifty percent of respondents concur that ADR reporting is critical, while more than eighty percent concur that ADR reporting is required for pharmacists, the most significant health professionals in ADR reporting. The participants' length of participation in an internship program and their internship location significantly impact their opinion of ADR reporting. Seventy-four percent (74%) of respondents from tertiary hospitals say their internship center encourages ADR reporting.

Conclusion
Most participants have a solid understanding of PV and ADR reporting, but perceptions of PV and ADR reporting are substantially correlated with internship location and program length. Active measures should be implemented to ensure that all pharmacy interns comprehend and embrace PV and ADR reporting as their exclusive duty.
DRAGON-Data: a platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts
Authors: Lynham Amy J. , Knott Sarah , Underwood Jack F. G. , Hubbard Leon , Agha Sharifah S. , Bisson Jonathan I. , van den Bree Marianne B. M. , Chawner Samuel J. R. A. , Craddock Nicholas , O'Donovan Michael , Jones Ian R. , Kirov George , Langley Kate , Martin Joanna , Rice Frances , Roberts Neil P. , Thapar Anita , Anney Richard , Owen Michael J. , Hall Jeremy , Pardiñas Antonio F. , Walters James T. R. 
Published: February 2023

Background
Current psychiatric diagnoses, although heritable, have not been clearly mapped onto distinct underlying pathogenic processes. The same symptoms often occur in multiple disorders, and a substantial proportion of both genetic and environmental risk factors are shared across disorders. However, the relationship between shared symptoms and shared genetic liability is still poorly understood.

Aims
Well-characterised, cross-disorder samples are needed to investigate this matter, but few currently exist. Our aim is to develop procedures to purposely curate and aggregate genotypic and phenotypic data in psychiatric research.

Method
As part of the Cardiff MRC Mental Health Data Pathfinder initiative, we have curated and harmonised phenotypic and genetic information from 15 studies to create a new data repository, DRAGON-Data. To date, DRAGON-Data includes over 45 000 individuals: adults and children with neurodevelopmental or psychiatric diagnoses, affected probands within collected families and individuals who carry a known neurodevelopmental risk copy number variant.

Results
We have processed the available phenotype information to derive core variables that can be reliably analysed across groups. In addition, all data-sets with genotype information have undergone rigorous quality control, imputation, copy number variant calling and polygenic score generation.

Conclusions
DRAGON-Data combines genetic and non-genetic information, and is available as a resource for research across traditional psychiatric diagnostic categories. Algorithms and pipelines used for data harmonisation are currently publicly available for the scientific community, and an appropriate data-sharing protocol will be developed as part of ongoing projects (DATAMIND) in partnership with Health Data Research UK.
Brexucabtagene Autoleucel for Relapsed or Refractory Mantle Cell Lymphoma in Standard-of-Care Practice: Results From the US Lymphoma CAR T Consortium
Authors: Wang Yucai , Jain Preetesh , Locke Frederick L. , Maurer Matthew J. , Frank Matthew J. , Munoz Javier L. , Dahiya Saurabh , Beitinjaneh Amer M. , Jacobs Miriam T. , Mcguirk Joseph P. , Vose Julie M. , Goy Andre , Andreadis Charalambos , Hill Brian T. , Dorritie Kathleen A. , Oluwole Olalekan O. , Deol Abhinav , Paludo Jonas , Shah Bijal , Wang Trent , Banerjee Rahul , Miklos David B. , Rapoport Aaron P. , Lekakis Lazaros , Ghobadi Armin , Neelapu Sattva S. , Lin Yi , Wang Michael L. , Jain Michael D. 
Published: February 2023

PURPOSE Brexucabtagene autoleucel (brexu-cel) is an autologous CD19-directed chimeric antigen receptor (CAR) T-cell therapy approved for relapsed/refractory mantle cell lymphoma (MCL). This therapy was approved on the basis of the single-arm phase II ZUMA-2 trial, which showed best overall and complete response rates of 91% and 68%, respectively. We report clinical outcomes with brexu-cel in the standard-of-care setting for the approved indication. PATIENTS AND METHODS Patients who underwent leukapheresis between August 1, 2020 and December 31, 2021, at 16 US institutions, with an intent to manufacture commercial brexu-cel for relapsed/refractory MCL, were included. Patient data were collected for analyses of responses, outcomes, and toxicities as per standard guidelines. RESULTS Of 189 patients who underwent leukapheresis, 168 (89%) received brexu-cel infusion. Of leukapheresed patients, 79% would not have met ZUMA-2 eligibility criteria. Best overall and complete response rates were 90% and 82%, respectively. At a median follow-up of 14.3 months after infusion, the estimates for 6- and 12-month progression-free survival (PFS) were 69% (95% CI, 61 to 75) and 59% (95% CI, 51 to 66), respectively. The nonrelapse mortality was 9.1% at 1 year, primarily because of infections. Grade 3 or higher cytokine release syndrome and neurotoxicity occurred in 8% and 32%, respectively. In univariable analysis, high-risk simplified MCL international prognostic index, high Ki-67, TP53 aberration, complex karyotype, and blastoid/pleomorphic variant were associated with shorter PFS after brexu-cel infusion. Patients with recent bendamustine exposure (within 24 months before leukapheresis) had shorter PFS and overall survival after leukapheresis in intention-to-treat univariable analysis. CONCLUSION In the standard-of-care setting, the efficacy and toxicity of brexu-cel were consistent with those reported in the ZUMA-2 trial. Tumor-intrinsic features of MCL, and possibly recent bendamustine exposure, may be associated with inferior efficacy outcomes.
Mutation Spectrum in Liquid Versus Solid Biopsies From Patients With Advanced Gastroenteropancreatic Neuroendocrine Carcinoma
Authors: Knappskog Stian , Grob Tobias , Venizelos Andreas , Amstutz Ursula , Hjortland Geir O. , Lothe Inger M. , Kersten Christian , Hofsli Eva , Sundlöv Anna , Elvebakken Hege , Garresori Herish , Couvelard Anne , Svensson Johanna , Sorbye Halfdan , Perren Aurel 
Published: February 2023

PURPOSE Gastroenteropancreatic neuroendocrine carcinomas (GEP-NEC) are rare and have a poor prognosis. Most GEP-NEC are diagnosed with metastatic disease, with only minor biopsies available for molecular diagnostics. We assessed the applicability of liquid biopsies for molecular profiling of GEP-NEC. MATERIALS AND METHODS We performed massive parallel sequencing of 76 cancer-related genes in circulating tumor DNA from 50 patients with advanced GEP-NEC and compared findings to previous analyses of solid tumor biopsies from the same patients. Plasma samples were collected before therapy, and the median time span between blood and tissue sampling was 25 days. RESULTS We detected 178 somatic mutations in the liquid biopsies, 127 (71%) were also detected in the solid biopsies, whereas 51 (29%) were unique to the liquid biopsies. In the same 76 genes, we previously detected 199 somatic mutations (single nucleotide variants) in solid biopsies, of which 127 (64%) were also now detected in liquid biopsies. In exploratory subgroup assessments, concordance was higher in patients with liver metastases ( P = 1.5 × 10–5) and increasing with level of liver involvement ( P = 1.2 × 10–4). The concordance was similar between GEP-NEC with different primary sites, except being lower in esophageal cases ( P = .001). Concordance was not associated with tumor mutation burden. Tumor tissue mutations also detected in liquid biopsies was lower for MSI (40%) versus MSS tumors (70%; P = 7.8 × 10–4). We identified potentially targetable mutations in plasma of 26 (52%) of patients with GEP-NEC; nine patients (18%) had potentially targetable mutation detected only in liquid biopsies. CONCLUSION Liquid biopsy analyses may be an applicable alternative to solid biopsies in GEP-NEC. Liquid biopsies may add additional mutations compared with tumor biopsies alone and could be useful for biomarker assessment in clinical trials for these patients.
FCH-PET/CT in Primary Hyperparathyroidism With Discordant/Negative MIBI Scintigraphy and Ultrasonography
Authors: Koumakis Eugenie , Gauthé Mathieu , Martinino Alessandro , Sindayigaya Rémy , Delbot Thierry , Wartski Myriam , Clerc Jérôme , Roux Christian , Borderie Didier , Cochand-Priollet Beatrix , Cormier Catherine , Gaujoux Sébastien 
Published: February 2023

Abstract

Context
The contribution of [18F]F-fluorocholine (FCH)-positron emission tomography (PET)/computed tomography (CT) in normocalcemic primary hyperparathyroidism (nPHPT) remains unknown.

Objective
To evaluate the sensitivity and specificity of FCH-PET/CT in a cohort of osteoporotic patients with nPHPT and discordant or negative [99mTc]Tc-sestamibi scintigraphy and ultrasonography who all underwent parathyroidectomy (PTX).

Design
Longitudinal retrospective cohort study in patients referred for osteoporosis with mild biological primary hyperparathyroidism.

Setting
Tertiary referral center with expertise in bone metabolism and surgical management of hyperparathyroidism.

Patients
Among 109 patients with PHPT analyzed, 3 groups were individualized according to total serum calcium (tCa) and ionized calcium (iCa): 32 patients with hypercalcemia (HtCa group), 39 patients with normal tCa and elevated iCa (NtCa group), and 38 patients with both normal tCa and iCa (NiCa). All patients had biochemical follow-up confirming or not the success of PTX.

Main outcome measures
To evaluate the performance of FCH-PET/CT in terms of sensitivity and specificity, and to compare with first-line imaging procedures in the setting of nPHPT.

Results
The sensitivity of FCH-PET/CT was 67% in the hypercalcemic group, 48% in the NtCa group (P = .05 vs HtCa), and 33% in the NiCa group (P = .004 vs HtCa). Specificity ranged from 97% to 99%. FCH-PET/CT was positive in 64.3% of patients with negative conventional imaging, with biochemical resolution after PTX in 77.8% of patients. Triple negative imaging was observed in 20 patients, with PHPT resolution in 85% of these patients.

Conclusion
This study highlights the contribution of FCH-PET/CT in a well-phenotyped cohort of normocalcemic patients with discordant or negative findings in [99mTc]Tc-sestamibi scintigraphy and ultrasonography. However, negative imaging in nPHPT does not rule out the possibility of surgical cure by an experienced surgeon.