bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Authors: Campion Lindsey N. , Mejia Maza Alan , Yadav Rachita , Penney Ellen B. , Murcar Micaela G. , Correia Kevin , Gillis Tammy , Fernandez-Cerado Cara , Velasco-Andrada M. Salvie , Legarda G. Paul , Ganza-Bautista Niecy G. , Lagarde J. Benedict B. , Acuña Patrick J. , Multhaupt-Buell Trisha , Aldykiewicz Gabrielle , Supnet Melanie L. , De Guzman Jan K. , Go Criscely , Sharma Nutan , Munoz Edwin L. , Ang Mark C. , Diesta Cid Czarina E. , Bragg D. Cristopher , Ozelius Laurie J. , Wheeler Vanessa C. 
Published: April 2022

AbstractX-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. This places XDP in a broader class of repeat expansion diseases, characterized by the instability of their causative repeat mutations. Here, we observe similar inverse correlations between CCCTCT repeat length with age at onset and age at death and no obvious correlation with disease duration. To gain insight into repeat instability in XDP we performed comprehensive quantitative analyses of somatic instability of the XDP CCCTCT repeat in blood and in seventeen brain regions from affected males. Our findings reveal repeat length-dependent and expansion-based instability of the XDP CCCTCT repeat, with greater levels of expansion in brain than in blood. The brain exhibits regional-specific patterns of instability that are broadly similar across individuals, with cerebellum exhibiting low instability and cortical regions exhibiting relatively high instability. The spectrum of somatic instability in the brain includes a high proportion of moderate repeat length changes of up to 5 repeats, as well as expansions of ~ 20- > 100 repeats and contractions of ~ 20–40 repeats at lower frequencies. Comparison with HTT CAG repeat instability in postmortem Huntington’s disease brains reveals similar brain region-specific profiles, indicating common trans-acting factors that contribute to the instability of both repeats. Analyses in XDP brains of expansion of a different SVA-associated CCCTCT located in the LIPG gene, and not known to be disease-associated, reveals repeat length-dependent expansion at overall lower levels relative to the XDP CCCTCT repeat, suggesting that expansion propensity may be modified by local chromatin structure. Together, the data support a role for repeat length-dependent somatic expansion in the process(es) driving the onset of XDP and prompt further investigation into repeat dynamics and the relationship to disease.
EARL compliance measurements on the biograph vision Quadra PET/CT system with a long axial field of view
Authors: Prenosil George A. , Hentschel Michael , Weitzel Thilo , Sari Hasan , Shi Kuangyu , Afshar-Oromieh Ali , Rominger Axel 
Published: April 2022

Abstract
Background
Our aim was to determine sets of reconstruction parameters for the Biograph Vision Quadra (Siemens Healthineers) PET/CT system that result in quantitative images compliant with the European Association of Nuclear Medicine Research Ltd. (EARL) criteria. Using the Biograph Vision 600 (Siemens Healthineers) PET/CT technology but extending the axial field of view to 106 cm, gives the Vision Quadra currently an around fivefold higher sensitivity over the Vision 600 with otherwise comparable spatial resolution. Therefore, we also investigated how the number of incident positron decays—i.e., exposure—affects EARL compliance. This will allow estimating a minimal acquisition time or a minimal applied dose in clinical scans while retaining data comparability.

Methods
We measured activity recovery curves on a NEMA IEC body phantom filled with an aqueous 18F solution and a sphere to background ratio of 10–1 according to the latest EARL guidelines. Reconstructing 3570 image sets with varying OSEM PSF iterations, post-reconstruction Gaussian filter full width at half maximum (FWHM), and varying exposure from 59 kDecays/ml (= 3 s frame duration) to 59.2 MDecays/ml (= 1 h), allowed us to determine sets of parameters to achieve compliance with the current EARL 1 and EARL 2 standards. Recovery coefficients (RCs) were calculated for the metrics RCmax, RCmean, and RCpeak, and the respective recovery curves were analyzed for monotonicity. The background’s coefficient of variation (COV) was also calculated.

Results
Using 6 iterations, 5 subsets and 7.8 mm Gauss filtering resulted in optimal EARL1 compliance and recovery curve monotonicity in all analyzed frames, except in the 3 s frames. Most robust EARL2 compliance and monotonicity were achieved with 2 iterations, 5 subsets, and 3.6 mm Gauss FWHM in frames with durations between 30 s and 10 min. RCpeak only impeded EARL2 compliance in the 10 s and 3 s frames.

Conclusions
While EARL1 compliance was robust over most exposure ranges, EARL2 compliance required exposures between 1.2 MDecays/ml to 11.5 MDecays/ml. The Biograph Vision Quadra’s high sensitivity makes frames as short as 10 s feasible for comparable quantitative images. Lowering EARL2 RCmax limits closer to unity would possibly even permit shorter frames.
A case of alveolar echinococcosis in the liver that ruptured into the pericardium treated by a combination of hepatectomy and albendazole
Authors: Yamamoto Yoichi , Sakamoto Yuzuru , Kamiyama Toshiya , Nagatsu Akihisa , Asahi Yoh , Orimo Tatsuya , Kakisaka Tatsuhiko , Kamachi Hirofumi , Otsuka Takuya , Mitsuhashi Tomoko , Taketomi Akinobu 
Published: April 2022

AbstractBackgroundAlveolar echinococcosis (AE) is a rare parasitic disease caused by the larva ofEchinococcus multilocularis. It nearly always occurs in the liver, and cardiac involvement is extremely rare. Liver resection is the most effective intervention for AE because the only potentially curative treatment is removal of the lesion. Even when complete resection is not performed, long-term survival can be expected after surgical removal of most of the lesion with lifelong administration of albendazole (ABZ).Case presentationA 64-year-old man who lived in Hokkaido was referred to our hospital due to abnormalities in biliary enzymes. According to the findings from enhanced computed tomography and magnetic resource imaging of the abdomen, transthoracic echocardiography and serologic tests, he was diagnosed with hepatic AE with rupture into the pericardium. He underwent extended left hemi-hepatectomy with reconstruction of the inferior vena cava and opening of the pericardium with drainage as reduction surgery. Pathological examination revealed echinococcal infection in the pericardium as well as the liver. He started chemotherapy with 400 mg ABZ per Day 67 days after surgery. Although the surgical margin was positive in the pathological findings, he was alive 19 months later with no regrowth of the echinococcal lesion.ConclusionAE with cardiac involvement is extremely rare. Even if the complete removal of cardiac-involved AE is not possible, surgical debulking with lifelong ABZ treatment can successfully manage the disease.
Sex hormones, CSF and serum leptin in patients with idiopathic intracranial hypertension
Authors: Abdelghaffar Mohamed , Hussein Mona , Abdelkareem Shaimaa A. , Elshebawy Haidy 
Published: April 2022

Abstract
Background
Idiopathic intracranial hypertension (IIH) is typically seen in females of childbearing period; therefore, it is possible that female sex hormones have a pathogenic role in IIH. Obesity is considered as a strong risk factor for IIH, Leptin levels in the serum and CSF were found to be positively correlated with anthropological measures of obesity. The role of leptin and sex hormones in the pathogenesis of idiopathic intracranial hypertension is not fully understood. The aim of this work was to assess CSF leptin, serum leptin, estradiol, testosterone, Dehydroepiandrosterone sulfate (DHEAS) levels in idiopathic intracranial hypertension (IIH) patients.

Results
This is a case control study which was conducted on 38 IIH female patients and 38 females as controls. IIH patients had significantly higher levels of serum Leptin, CSF Leptin, serum estradiol and serum testosterone than controls (P value < 0.001, < 0.001, 0.005 and < 0.001, respectively), whereas there was no statistically significant difference between IIH patients and controls in serum DHEAS (P value = 0.142). IIH patients with body mass index (BMI) ≥ 30 kg/m2 had significantly higher levels of serum Leptin, CSF Leptin, serum estradiol, serum testosterone, and serum DHEAS than IIH patients with BMI < 30 kg/m2 (P value < 0.001, < 0.001, 0.009, < 0.001, and < 0.001, respectively).

Conclusions
Patients with IIH express a characteristic elevation in CSF leptin, serum leptin, estradiol and testosterone levels. These hormones are significantly elevated in patients with high BMI.
Efficacy of intraoperative magnesium sulfate versus ketamine on emergence agitation in pediatric patients under sevoflurane anesthesia: a randomized clinical trial
Authors: Abdelhakim Nada , Hassan Alaa Eid Mohamed , Nasr Dalia Abdelhamid Mohamed , Kamal Farouk 
Published: April 2022

AbstractBackgroundOver the years, sevoflurane has been proven to be the most effective inhalational anesthetic for induction and maintenance of general anesthesia in pediatrics. However, one of the downsides of utilizing sevoflurane anesthesia in pediatrics is emergence agitation (EA). A variety of drugs have been evaluated for prophylaxis against the occurrence of EA. Both magnesium and ketamine were evaluated in controlling this phenomenon; however, the usefulness of using intraoperative magnesium and ketamine infusions in preventing EA is still debatable.MethodsFifty-two children aged 4–7 years who were having elective lower abdominal or pelvic surgeries under sevoflurane anesthesia were enrolled then allocated randomly into one of two groups (n= 26 each). The magnesium group (M) included 26 patients who received intravenous (IV) loading dose of magnesium 15 mg/kg before the surgical incision followed by IV infusion 10 mg/kg/h over the duration of surgery, while the ketamine group (K) included 26 patients who received an IV loading dose of ketamine 1 mg/kg before the surgical incision, then IV infusion 1 mg/kg/h over the duration of surgery. For each patient, the agitation score (Pediatric Anesthesia Emergence Delirium [PAED] scale) and pain score, as well as the time to endotracheal tube (ETT) removal, regain of mental orientation, and transfer from the post-anesthesia care unit (PACU) to ward were all documented.ResultsIntraoperative magnesium sulfate infusion showed a lower PAED score on immediate arrival to PACU than intraoperative ketamine infusion, with less time to tracheal extubation, recovery of mental orientation, and discharge from PACU with aPvalue below 0.001, while there was no statistical significance between both groups as regards PAED score after 30 min in PACU, pain score, or perioperative vital data.ConclusionsMagnesium sulfate was found superior to ketamine in lowering the severity of the postoperative agitation in pediatric patients undergoing abdominal or pelvic surgeries under sevoflurane anesthesia. Also, patients restored their consciousness and mental orientation faster in the magnesium group compared to ketamine. This has increased the PACU stay in the ketamine group.
COVID-19 vaccines: their effectiveness against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and its emerging variants
Authors: Noor Rashed , Shareen Saadia , Billah Muntasir 
Published: April 2022

Abstract
Background
The world has been suffering from the COVID-19 pandemic (officially declared by WHO in March 2020), caused by the severe acute respiratory β-coronavirus 2 (SARS-CoV-2) since the last week of December 2019. The disease was initially designated as a Public Health Emergency of International Concern on January 30, 2020. In order to protect the health of mass public, an array of research on drugs and vaccines against SARS-CoV-2 has been conducted globally. However, the emerging variants of SARS-CoV-2, i.e., Alpha (B.1.1.7), Beta (B.1.351), Gamma (P.1), and Delta (B.1.617.2) variants which evolved in late 2020 and the Omicron variant (B.1.1.529) which emerged in November 2021 along with its subvariant BA.2 which was first identified in India and South Africa in late December 2021, have raised the doubt about the efficiency of the currently used vaccines especially in terms of the consistent potential to produce neutralizing antibodies targeting the viral spike (S) protein.

Main body of the abstract
The present review discussed the functional details of major vaccines regarding their efficiency against such variants during the pandemic. Overall, the mRNA vaccines have shown around 94% effectiveness; the adenovector vaccine showed approximately 70% efficacy, whereas Sputnik V vaccines showed around 92% effectiveness; the inactivated whole-virus vaccine CoronaVac/PiCoVacc and BBIBP-CorV showed a varying effectiveness of 65–86% according to the geographic locations; the subunit vaccine NVX-CoV2373 has shown 60–89% effectiveness along with the global regions against the wild-type SARS-CoV-2 strain. However, reduced effectiveness of these vaccines against the SARS-CoV-2 variants was noticed which is suggestive for the further administration of booster dose.

Short conclusion
Maximum variants of SARS-CoV-2 emerged during the second wave of COVID-19; and extensive studies on the viral genomic sequences from all geographical locations around the world have been conducted by an array of groups to assess the possible occurrence of mutations(s) specially within the receptor binding domain of the viral spike (S) protein. Mutational similarities and the new or critical mutations within all variants have been clearly identified so far. The study of effectiveness of the currently used vaccines is also ongoing. The persistence of memory B cell action and the other immune components as well as the administration of booster dose is expected to mitigate the disease.
Pulmonary hypertension among maintenance hemodialysis patients in Somalia: a hospital-based observational study
Authors: Alıcı Gökhan , Waberi Mohamud Mire , Mohamud Mohamed Abdullahi , Bashir Ahmed Muhammad , Genç Ömer 
Published: April 2022

AbstractBackgroundThis study aims to examine the prevalence and related factors of pulmonary hypertension (PHT) in patients on hemodialysis (HD) at the only referral institution in Somalia. A total of one hundred and forty-three patients who had received regular HD therapy for at least three months and underwent transthoracic echocardiography (TTE) were included in the study. Patients with a systolic pulmonary artery pressure (sPAP) value > 35 mmHg at rest on TTE were considered having PHT. The relationship of TTE parameters, demographic, and clinic characteristics of participants with PHT were evaluated.ResultsThe number of patients with PHT was 73 (51%). The mean age was 54.2 ± 18.4 years. The majority of patients were 65 years of age or older. (n: 46, 32.2%) and 65 (45.5%) were male. Median sPAP was found to be 35 mmHg. Systolic pulmonary artery pressure was positively correlated with right atrium (RA) diameter (r: 0.6,p < 0.001) and negatively correlated with left ventricular ejection fraction (LVEF) (r: − 0.4,p < 0.001). In addition, LVEF, RA diameter, presence of pericardial effusion (PE) were found to be independent predictors of PHT.ConclusionsPulmonary hypertension has a relatively high prevalence in end-stage renal disease (ESRD) patients on regular HD. Besides, the presence of PE and certain right and left heart parameters were independently associated with PHT.
Effects of the Isolated and Combined Ablation of Growth Hormone and IGF-1 Receptors in Somatostatin Neurons
Authors: Chaves Fernanda M , Wasinski Frederick , Tavares Mariana R , Mansano Naira S , Frazao Renata , Gusmao Daniela O , Quaresma Paula G F , Pedroso João A B , Elias Carol F , List Edward O , Kopchick John J , Szawka Raphael E , Donato Jose 
Published: April 2022

Abstract
Hypophysiotropic somatostatin (SST) neurons in the periventricular hypothalamic area express growth hormone (GH) receptor (GHR) and are frequently considered as the key neuronal population that mediates the negative feedback loop controlling the hypothalamic–GH axis. Additionally, insulin-like growth factor-1 (IGF-1) may also act at the hypothalamic level to control pituitary GH secretion via long-loop negative feedback. However, to the best of our knowledge, no study so far has tested whether GHR or IGF-1 receptor (IGF1R) signaling specifically in SST neurons is required for the homeostatic control of GH secretion. Here we show that GHR ablation in SST neurons did not impact the negative feedback mechanisms that control pulsatile GH secretion or body growth in male and female mice. The sex difference in hepatic gene expression profile was only mildly affected by GHR ablation in SST neurons. Similarly, IGF1R ablation in SST neurons did not affect pulsatile GH secretion, body growth, or hepatic gene expression. In contrast, simultaneous ablation of both GHR and IGF1R in SST-expressing cells increased mean GH levels and pulse amplitude in male and female mice, and partially disrupted the sex differences in hepatic gene expression. Despite the increased GH secretion in double knockout mice, no alterations in body growth and serum or liver IGF-1 levels were observed. In summary, GHR and IGF1R signaling in SST neurons play a redundant role in the control of GH secretion. Furthermore, our results reveal the importance of GH/IGF-1 negative feedback mechanisms on SST neurons for the establishment of sex differences in hepatic gene expression profile.
Neuroimaging of Epilepsy
Authors: Lapalme-Remis Samuel , Nguyen Dang K. 
Published: April 2022

ABSTRACT

PURPOSE OF REVIEW
This article provides an overview of imaging modalities, important imaging pathologies, and the role each imaging modality can play in the diagnosis, evaluation, and treatment of epilepsy, including epilepsy surgery.

RECENT FINDINGS
The Harmonized Neuroimaging of Epilepsy Structural Sequences (HARNESS-MRI) protocol was proposed to standardize MRI imaging for all patients with seizures. The role of 7-Tesla MRI in finding previously occult epileptogenic lesions is under investigation, and the technique is increasingly used. Developing MRI postprocessing techniques can increase the sensitivity of MRI. Improvements in functional imaging techniques such as EEG–functional MRI (fMRI) and magnetic source imaging provide complementary methods of identifying seizure foci. New epileptogenic pathologies such as multinodular and vacuolating neuronal tumors (MVNT) are being discovered, and the importance of others, such as encephaloceles, is better appreciated.

SUMMARY
Brain imaging is a critical component of the diagnosis and evaluation of patients with epilepsy. Structural imaging modalities such as MRI and CT allow for the identification of a wide variety of potentially epileptogenic lesions. For patients with drug-resistant epilepsy under consideration for resective surgery, both structural and functional neuroimaging may be needed for focus identification and surgical planning for preservation of neurologic function.
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice
Authors: Schoppa Astrid M. , Chen Xiangxu , Ramge Jan-Moritz , Vikman Anna , Fischer Verena , Haffner-Luntzer Melanie , Riegger Jana , Tuckermann Jan , Scharffetter-Kochanek Karin , Ignatius Anita 
Published: April 2022

ABSTRACT
Osteoporosis is a systemic metabolic skeletal disease characterized by low bone mass and strength associated with fragility fractures. Oxidative stress, which results from elevated intracellular reactive oxygen species (ROS) and arises in the aging organism, is considered one of the critical factors contributing to osteoporosis. Mitochondrial (mt)ROS, as the superoxide anion (O2−) generated during mitochondrial respiration, are eliminated in the young organism by antioxidant defense mechanisms, including superoxide dismutase 2 (SOD2), the expression and activity of which are decreased in aging mesenchymal progenitor cells, accompanied by increased mtROS production. Using a mouse model of osteoblast lineage cells with Sod2 deficiency, we observed significant bone loss in trabecular and cortical bones accompanied by decreased osteoblast activity, increased adipocyte accumulation in the bone marrow and augmented osteoclast activity, suggestive of altered mesenchymal progenitor cell differentiation and osteoclastogenesis. Furthermore, osteoblast senescence was increased. To date, there are only a few studies suggesting a causal association between mtROS and cellular senescence in tissue in vivo. Targeting SOD2 to improve redox homeostasis could represent a potential therapeutic strategy for maintaining bone health during aging.
Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance
Authors: Lu Yuting , Patton E. Elizabeth 
Published: April 2022

ABSTRACT
Zebrafish embryos are widely used for drug discovery, however, administering drugs to adult zebrafish is limited by current protocols that can cause stress. Here, we developed a drug formulation and administration method for adult zebrafish by producing food-based drug pellets that are consumed voluntarily. We applied this to zebrafish with BRAF-mutant melanoma, a model that has significantly advanced our understanding of melanoma progression, but not of drug resistance due to the limitations of current treatment methods. Zebrafish with melanomas responded to short-term, precise and daily dosing with drug pellets made with the BRAFV600E inhibitor, vemurafenib. On-target drug efficacy was determined by phospho-Erk staining. Continued drug treatment led to the emergence, for the first time in zebrafish, of acquired drug resistance and melanoma relapse, modelling the responses seen in melanoma patients. This method presents a controlled, non-invasive approach that permits long-term drug studies and can be widely applied to adult zebrafish models.
Robustness of the aging effect of smiling against vertical facial orientation
Authors: Yoshimura Naoto , Yonemitsu Fumiya , Sasaki Kyoshiro , Yamada Yuki 
Published: April 2022

Background: Previous studies have shown that the association between smiling and youth is a misconception; smiling faces have been estimated to be older than neutral faces. Previous studies have indicated that this aging effect of smiling (AES) is due to eye wrinkles caused by the facial action of smiling. However, whether holistic processing for facial expressions is involved in AES has not been investigated. The present study aimed to clarify these issues. Methods: Participants were recruited to participate in an online experiment that had a 3 (facial expression: smiling/neutral/surprised) × 2 (facial orientation: upright/inverted) mixed design. Participants were presented with an upright or inverted face for each expression (neutral, smiling, and surprised) and were asked to estimate the individual’s age. Results: In total, 104 participants were included in the analysis. The results show that smiling faces were estimated to be older than neutral faces, whereas there was no significant difference between upright and inverted faces. Conclusions: Our findings suggest that direct age estimation is not dependent on holistic processing.