bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transanal endoscopic microsurgery versus radical resection for early-stage rectal cancer: a systematic review and meta- analysis
Authors: Li Wei , Xiang Xing Xing , Da Wang Hong , Cai Chen Jun , Cao Ying Hao , Liu Tao 
Published: February 2023

Abstract
Purpose
In the treatment of early-stage rectal cancer, a growing number of studies have shown that transanal endoscopic microsurgery is one of the alternatives to radical surgery adhering to total mesorectal excision that can reduce the incidence of adverse events without compromising treatment outcomes. The purpose of this meta-analysis is to compare the safety and treatment effect of transanal endoscopic microsurgery and radical surgery adhering to total mesorectal excision to provide a basis for clinical treatment selections.

Method
We searched the literatures of four major databases, PubMed, Embase, Web of science, and Cochrane Library, without limitation of time. The literatures included randomized controlled studies and cohort studies comparing two surgical procedures of transanal endoscopic microsurgery and radical surgery adhering to total mesorectal excision. Treatment effectiveness and safety results of transanal endoscopic microsurgery and radical surgery were extracted from the included literatures and statistically analyzed using RevMan5.4 and stata17.

Result
Ultimately, 13 papers were included in the study including 5 randomized controlled studies and 8 cohort studies. The results of the meta-analysis showed that the treatment effect and safety of both transanal endoscopic microsurgery and radical surgery in distant metastasis (RR, 0.59 (0.34, 1.02), P > 0.05), overall recurrence (RR, 1.49 (0.96, 2.31), P > 0.05), disease-specific-survival (RR, 0.74 (0.09, 1.57), P > 0.05), dehiscence of the sutureline or anastomosis leakage (RR, 0.57 (0.30, 1.06), P > 0.05), postoperative bleeding (RR, 0.47 (0.22, 0.99), P > 0.05), and pneumonia (RR, 0.37, (0.10, 1.40), P > 0.05) were not significantly different. However, they differ significantly in perioperative mortality (RR, 0.26 (0.07, 0.93, P < 0.05)), local recurrence (RR, 2.51 (1.53, 4.21), P < 0.05),_overall survival_ (RR, 0.88 (0.74, 1.00), P < 0.05), disease-free-survival (RR, 1.08 (0.97, 1.19), P < 0.05), temporary stoma (RR, 0.05 (0.01, 0.20), P < 0.05), permanent stoma (RR, 0.16 (0.08, 0.33), P < 0.05), postoperative complications (RR, 0.35 (0.21, 0.59), P < 0.05), rectal pain (RR, 1.47 (1.11, 1.95), P < 0.05), operation time (RR, −97.14 (−115.81, −78.47), P < 0.05), blood loss (RR, −315.52 (−472.47, −158.57), P < 0.05), and time of hospitalization (RR, −8.82 (−10.38, −7.26), P < 0.05).

Conclusion
Transanal endoscopic microsurgery seems to be one of the alternatives to radical surgery for early-stage rectal cancer, but more high-quality clinical studies are needed to provide a reliable basis.
FraMaDySc: dysphagia screening for patients after surgery for head and neck cancer
Authors: Hey Christiane , Goeze Almut , Sader Robert , Zaretsky Eugen 
Published: February 2023

Abstract
Purpose
Oropharyngeal dysphagia is one of the most common postoperative consequences in head and neck cancer patients. Above all, these patients often suffer from aspiration and limitations of oral intake. However, no reliable dysphagia screening is available for this target group. This study aimed to develop and validate a screening, FraMaDySc, based on a water swallow test (WST) for the identification of postsurgical patients with a risk of aspiration, limitations of oral intake, and, as their derivate, a relevant oropharyngeal dysphagia in general (OD) that constituted the main reference standard.

Methods
A total of 184 postsurgical head and neck cancer patients were tested with a WST. The patients were, on average, 62 years old and predominantly male (71%). After WST, they underwent Fiberoptic Endoscopic Evaluation of Swallowing (FEES®). FEES® results were dichotomized by Penetration aspiration scale and Functional oral intake scale. Patients with a “fail” result on one of these two scales were classified as having OD. Quality criteria of WST were quantified by means of cross-tabulation with FEES® results.

Results
OD was found in 65% of patients, aspiration in 44%, limitations of oral intake in 56%. WST delivered a “fail” result in 65% of patients. WST showed sensitivity 91% and specificity 88% for OD. Quality criteria for aspiration (sensitivity 64%, specificity 93%) and limitations of oral intake (sensitivity 80%, specificity 87%) were lower.

Conclusion
FraMaDySc is a standardized, quick, and valid WST and therefore an excellent screening tool for the identification of OD in postoperative head and neck cancer patients.
Self-assessment of olfactory function using the “Sniffin’ Sticks”
Authors: Mai Yiling , Klockow Marie , Haehner Antje , Hummel Thomas 
Published: February 2023

Abstract
Background
A precise and reliable test of the olfactory function is indispensable for the diagnosis of the olfactory disorder (OD). Despite of this, in a clinical context, often there is no place in daily routine for time-consuming procedures. This study aimed to examine if the assessment of olfactory function using the “Sniffin’ Sticks” is suitable for self-assessment.

Methods
Participants comprised 84 healthy control subjects (HC) and 37 OD patients. The “Sniffin’ Sticks” test battery consisting of odor threshold (T), discrimination (D) and identification (I) tests was used for self- and assisted assessments. To save time, we applied the 8-item wide step version of the T test and the 8-item D test, whereas the I task remained the same as the original version. The whole test included two sessions, with each session comprising a self-assessment part performed by the participants themselves, and an assisted-assessment part performed by the examiner.

Results
Sniffin’ Sticks self-assessment was efficient in distinguishing between self-reported HC subjects and OD patients (p’s < 0.01), and the scores did not differ significantly from the assisted-assessment (p’s > 0.05). In the self-administered I and TDI tests, there was a moderate to excellent test–retest reliability (ICC = 0.51–0.93, p’s < 0.01), and a strong to excellent correlation with the assisted assessment (r = 0.71–0.92, p’s < 0.01). However, the self-administered T and D tests only exhibited low to moderate test–retest reliability (ICC = 0.30–0.72, p’s < 0.05) and correlations with the assisted test (r = 0.31–0.62, p’s < 0.05).

Conclusions
The Identification self-test is appropriate to be solely applied, and is therefore an easy-to-use alternative for olfactory screening in a larger segment of patients. The whole “Sniffin’ Sticks” self-test also shows good measurement properties and is therefore a suitable backup in clinical practice, but improvement is needed due to the simplified D and T self-test.
Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
Authors: Roos Jessica , Müller Stefanie , Giese Anne , Appenzeller Silke , Ringelstein Erich Bernd , Fiehler Jens , Berger Klaus , Rolfs Arndt , Hagel Christian , Kuhlenbäumer Gregor 
Published: February 2023

Abstract
Background
(1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients.

Patients and methods
Sanger sequencing of the COL4A1 miRNA-binding site in the PADMAL family and 874 sporadic stroke patients.

Results
PADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis. Radiologically pontine lacunes are followed by supratentorial white matter involvement. Radiological onset may precede clinical symptoms. We found no variants in the COL4A1 miRNA-binding site of sporadic stroke patients.

Conclusion
Our results allow an early diagnosis of PADMAL based on cranial MRI, clinical signs, and confirmatory sequencing of the COL4A1 miRNA-29-binding site. COL4A1 miRNA-29-binding site variants do not contribute to a sizeable proportion of sporadic stroke.
Peripheral nervous system adverse events associated with immune checkpoint inhibitors
Authors: Rossi Simone , Gelsomino Francesco , Rinaldi Rita , Muccioli Lorenzo , Comito Francesca , Di Federico Alessandro , De Giglio Andrea , Lamberti Giuseppe , Andrini Elisa , Mollica Veronica , D’Angelo Roberto , Baccari Flavia , Zenesini Corrado , Madia Pierandrea , Raschi Emanuel , Cortelli Pietro , Ardizzoni Andrea , Guarino Maria 
Published: February 2023

Abstract
Background
Immune checkpoint inhibitors (ICIs) represent an effective cancer immunotherapy yet are associated with immune-related adverse events (irAEs). The aim of this study was to characterize irAEs involving the peripheral nervous system (PNS-irAEs) in a real-world cohort of ICI-treated patients.

Methods
Cancer patients treated with ICIs between January 2014 and March 2022 were included. Patients with PNS-irAEs were identified and divided into two groups: (1) cranial/peripheral neuropathies and (2) myasthenia gravis (MG) and/or myositis. Clinical characteristics and outcomes, measured with the modified Rankin Scale (mRS), were compared among the two groups.

Results
Among 920 ICI-treated patients, 20 patients (2.17%) developed a PNS-irAEs. The median latency from ICI exposure was 8.8 weeks and the median time from onset to clinical nadir was 3.5 weeks. Eleven patients developed a neuropathy: polyneuropathy (n = 4), cranial neuropathy (n = 3), small-fiber neuropathy (n = 3), brachial plexopathy (n = 1). Nine patients presented MG and/or myositis: concomitant MG and myositis (n = 6), isolated myositis (n = 2), exacerbation of MG (n = 1). Immunosuppressive treatment and/or ICI withdrawal determined a significant clinical improvement, expressed by a mRS reduction, in the neuropathy group (p = 0.004), but not in the MG/myositis group (p = 0.11). Overall, death due to irAEs occurred in four patients (20%), all with MG/myositis. Compared to patients with neuropathies, those with MG/myositis had a shorter latency onset (p = 0.036), developed more frequently concomitant non-neurologic irAEs (p = 0.028) and showed a higher mortality rate (p = 0.026).

Conclusions
In our large cohort of ICI-treated patients, 2.17% developed PNS-irAEs. Compared to ir-neuropathies, ir-MG/myositis tend to occur earlier from ICI exposure and present a worse response to treatment and a higher mortality.
Endoscopic vacuum therapy significantly improves clinical outcomes of anastomotic leakages after 2-stage, 3-stage, and transhiatal esophagectomies
Authors: Maier Jonas , Kandulski A. , Donlon N. E. , Werner J. M. , Mehrl A. , Müller M. , Doenecke A. , Schlitt H. J. , Hornung M. , Weiss A. R. R. 
Published: February 2023

Abstract
Background
Anastomotic leakages after esophagectomies continue to constitute significant morbidity and mortality. Intrathoracic anastomoses pose a high risk for mediastinitis, sepsis, and death, if a leak is not addressed timely and appropriately. However, there are no standardized treatment recommendations or algorithms as for how to treat these leakages.

Methods
The study included all patients at the University Hospital Regensburg, who developed an anastomotic leakage after esophagectomy with gastric pull-up reconstruction from 2007 to 2022. Patients receiving conventional treatment options for an anastomotic leakage (stents, drainage tubes, clips, etc.) were compared to patients receiving endoscopic vacuum-assisted closure (eVAC) therapy as their mainstay of treatment. Treatment failure was defined as cervical esophagostomy formation or death.

Results
In total, 37 patients developed an anastomotic leakage after esophagectomy with a gastric pull-up reconstruction. Twenty patients were included into the non-eVAC cohort, whereas 17 patients were treated with eVAC. Treatment failure was observed in 50% of patients (n = 10) in the non-eVAC cohort and in 6% of patients (n = 1) in the eVAC cohort (p < 0.05). The 90-day mortality in the non-eVAC cohort was 15% (n = 3) compared to 6% (n = 1) in the eVAC cohort. Cervical esophagostomy formation was required in 40% of cases (n = 8) in the non-eVAC cohort, whereas no patient in the eVAC cohort underwent cervical esophagostomy formation.

Conclusion
eVAC therapy for leaking esophagogastric anastomoses appears to be superior to other treatment strategies as it significantly reduces morbidity and mortality. Therefore, we suggest eVAC as an essential component in the treatment algorithm for anastomotic leakages following esophagectomies, especially in patients with intrathoracic anastomoses.
Aerobically trained older adults show impaired resting, but preserved exercise-induced circulating progenitor cell count, which was not improved by sprint interval training
Authors: Yasar Zerbu , Ross Mark D. , Gaffney Christopher J. , Postlethwaite Ruth D. , Wilson Russell , Hayes Lawrence D. 
Published: February 2023

AbstractOlder adults exhibit a reduced number and function of CD34 + circulating progenitor cells (CPC), a known risk factor for cardiovascular disease. Exercise promotes the mobilisation of CPCs from bone marrow, so whether ageing per se or physical inactivity in older age reduces CPCs is unknown. Thus, this study examined the effect of age on resting and exercise-induced changes in CPCs in aerobically trained adults and the effect of 8 weeks of sprint interval training (SIT) on resting and exercise-induced CPCs in older adults. Twelve young (22–34 years) and nine older (63–70 years) adults participated in the study. Blood was sampled pre and immediately post a graded exercise test to exhaustion in both groups. Older participants repeated the process after 8 weeks of SIT (3 × 20 s ‘all-out’ sprints, 2 × a week). Total CPCs (CD34+) and endothelial progenitor cells (EPCs: CD34+KDR+) were determined by flow cytometry. Older adults exhibited lower basal total CD34+ CPCs (828 ± 314 vs. 1186 ± 272 cells·mL−1, p = 0.0149) and CD34+KDR+ EPCs (177 ± 128 vs. 335 ± 92 cells·mL−1, p = 0.007) than younger adults. The maximal exercise test increased CPCs in young (CD34+: p = 0.004; CD34+KDR+: p = 0.017) and older adults (CD34+: p < 0.001; CD34+KDR+: p = 0.008), without difference between groups (p = 0.211). SIT did not alter resting or exercise-induced changes in CPCs in the older cohort (p > 0.232). This study suggests age per se does not impair exercise-induced CPC counts, but does lower resting CPC counts.
Visuospatial working memory abilities in children analyzed by the bricks game task (BGT)
Authors: D’Aurizio G. , Di Pompeo I. , Passarello N. , Troisi Lopez E. , Sorrentino P. , Curcio G. , Mandolesi L. 
Published: February 2023

AbstractThe study of the development of visuospatial memory processes is useful for devising personalized educational interventions as well as for understanding the changes in cognitive functioning in an era characterized by technological progress. The present research is aimed at investigating spatial working memory ability in children that attended the first three years of primary school by means of the Brick Game Task (BGT), a novel visuospatial working memory test. BGT is a small-scale ecological test inspired by behavioral walking tasks with nine white bricks in different spatial configurations as well as to Corsi Block-Tapping test.228 Italian children (121 F; mean age: 7.22 ± 1.18) were assigned to three groups based on the primary school class attended: Group 1 (N = 85; 40 F; mean age 6.18 ± .5), Group 2 (N = 61; 36 F; mean age 7.2 ± .83), and Group 3 (N = 82; 44 F; mean age 8.32 ± .94). All participants were asked to complete the Digit Span test, the Corsi Block-Tapping test, and to explore the three spatial configurations of the BGT with the form of Matrix, M-BGT, Cluster, CL-BGT, Cross, CR-BGT.MANOVA revealed a main significant effect for Group (F12,434 = 15.06; p < .0001) indicating that the group of older obtained a better global executive performance than 1 and 2 groups. Multiple linear regression indicated that Corsi Block-Tapping test performance and Age significantly predicted the M-BGT score. Moreover, Corsi Block-Tapping test and Digit Span significantly predicted the CL-BGT performance, showing how a higher score results in a better CL- BGT performance. Finally, Corsi Block-Tapping test, Digit Span, and Age were positively associated with the CR- BGT performance. The present findings evidenced that novel BGT is a sensible visuospatial working memory task suggesting thus its use to assess the children’s executive performance in ecological way. These results open to the development of personalized educational interventions.
Colorectal adenosquamous carcinoma: genomic profiling of a rare histotype of colorectal cancer
Authors: Angerilli Valentina , Parente Paola , Businello Gianluca , Vanoli Alessandro , Paudice Michele , Perrone Giovanni , Munari Giada , Govoni Ilaria , Neri Giuseppe , Rebellato Elena , Parrella Paola , Grillo Federica , Mastracci Luca , Fassan Matteo 
Published: February 2023

Abstract
Colorectal adenosquamous carcinoma (ASC) is exceedingly rare, comprising less than 0.1% of all colorectal malignancies, and is characterized by an aggressive disease course, with a higher metastatic rate and worse outcome than conventional colorectal adenocarcinoma. A comprehensive molecular profile of this group of neoplasms is still lacking. A total of 22 cases of colorectal ASCs (with 22 primary lesions and 7 metastases matched with 4 primaries) were subject to NGS targeting 67 cancer-related genes (VariantPlex solid tumor; Archer). Mismatch repair (MMR), p53, and V600EBRAF status were also investigated by immunohistochemistry. In 28 of 29 (96.6%) ASC samples, at least one single-nucleotide variant (SNV) or copy number variation (CNV) was detected. Among the 22 primary tumors, the most frequently mutated genes were TP53 (59.1%), APC (40.9%), KRAS (27.3%), BRAF (13.6%), and GNAS (9.1%). Only 1/22 (4.5%) primary ASC was MMR-deficient (MMRd) and harbored a BRAF mutation. Limited differences in SNVs were observed between primary and metastatic diseases. This study sheds light on the molecular landscape of colorectal ASCs. According to our data, the genomic profile of colorectal ASC is similar to that of conventional colorectal carcinoma, with significant druggable genetic alterations. Further studies are required to understand the more aggressive clinical behavior of this neoplasm.
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome
Authors: Onesimo R. , Sforza E. , Giorgio V. , Rigante D. , Kuczynska E. , Leoni C. , Proli F. , Agazzi C. , Limongelli D. , Cerchiari A. , Tartaglia M. , Zampino G. 
Published: February 2023

AbstractTo date, the feeding and oral-motor abilities of patients with CHARGE syndrome (CS) have not been longitudinally assessed. This study aims to investigate the level of these abilities at different ages and evaluate how they evolve during growth. We retrospectively analysed oral-motor features of 16 patients with molecularly confirmed CS (age range 4–21 years old; mean 11 years; SD 6 years; median 10 years). Nearly 100% of CS new-borns had weak sucking at birth, and half of them demonstrated poor coordination between breathing and swallowing. Over time, the percentages of children with tube feeding dependence (60% at birth) faced a slow but steady decrease (from 33% at 6 months, 25% at 12 months, to 13% at school age) in tandem with the decreasing risk of aspiration. The ability of eating foods requiring chewing was achieved at school age, after the acquisition of an adequate oral sensory processing. A mature chewing pattern with a variety of food textures was not achieved by more than half of patients, including those requiring artificial enteral nutrition. Most patients started prolonged oral-motor treatments with speech language therapists in early childhood.Conclusions: Although feeding and swallowing disorders are constant features in CS patients, a slow and gradual development of feeding abilities occurs in most cases. Rehabilitation plays a key role in overcoming structural and functional difficulties and attaining appropriate eating skills.

What is Known:• Feeding problems and swallowing dysfunction have been noted in CHARGE syndrome.• The involvement of multiple factors, including structural problems in the mouth, throat, or esophagus, and neurological impairment, make feeding a complicated task in CHARGE individuals.

What is New:• Dysphagia gradually improves in most CHARGE children over time, though with a wide interindividual variability.• The percentages of children with tube feeding dependence decrease over time from 60% at birth to 33% at 6 months and 13% at school age.
Beyond IBD: the genetics of other early-onset diarrhoeal disorders
Authors: Stallard Lorraine , Siddiqui Iram , Muise Aleixo 
Published: February 2023

AbstractDiarrhoeal disorders in childhood extend beyond the inflammatory bowel diseases. Persistent and severe forms of diarrhoea can occur from birth and are associated with significant morbidity and mortality. These disorders can affect not only the gastrointestinal tract but frequently have extraintestinal manifestations, immunodeficiencies and endocrinopathies. Genomic analysis has advanced our understanding of these conditions and has revealed precision-based treatment options such as potentially curative haematopoietic stem cell transplant. Although many new mutations have been discovered, there is frequently no clear genotype–phenotype correlation. The functional effects of gene mutations can be studied in model systems such as patient-derived organoids. This allows us to further characterise these disorders and advance our understanding of the pathophysiology of the intestinal mucosa. In this review, we will provide an up to date overview of genes involved in diarrhoeal disorders of early onset, particularly focussing on the more recently described gene defects associated with protein loosing enteropathy.