cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.24071004
title: Supplementary Material for: Next generation sequencing of breast cancer in the neoadjuvant setting

description: Introduction: Many patients with locally advanced breast cancer are proposed to neoadjuvant chemotherapy (NAT) before surgery. Only some of them achieve a pathological complete response (pCR). The determination of gene somatic alterations using Next Generation Sequencing (NGS) in the non-pCR tumors is important, in order to identify potential opportunities of treatment for the patients, if targeted therapies are available. Methods: Breast cancer tissue samples of 31 patients, collected before NAT, were analyzed by NGS using the Oncomine™ Comprehensive Assay Plus (OCA-Plus) panel. Results: 12 patients achieved pCR after NAT. ERBB2 gene alterations were the most frequent in this cohort of pCR patients, followed by BRCA 1 and 2, MYC, TP53, PIK3CA and MET alterations. Tumours that did not achieve a pCR were mainly triple negative. In this subgroup some BRCA 1 and 2 and PIK3CA gene alterations were identified, as well as TP53 mutations. The NGS panel employed in this study also allowed for the determination of tumor mutation burden (TMB). Discussion/Conclusion: This study showcases the significance of employing comprehensive genomic testing in breast cancer cases, primarily due to the scarcity of specific target assays. The detection of somatic mutations, coupled with the availability of targeted therapies, holds promise as a potential therapeutic avenue to enhance tumor response rates during NAT, or as a complementary treatment following surgery. Moreover, evaluating the TMB in non-pCR samples could serve as a valuable criterion for selecting patients suitable for immunotherapy. Further exploration through clinical trials is imperative to investigate these prospects.
DOI: 10.6084/m9.figshare.24073092
title: Supplementary Material for: Association between Obstructive Sleep Apnea and Intracranial Artery Calcification Stratified by Gender and Body Mass Index: A Hospital-Based Observational Study

description: Background and Objectives Obstructive sleep apnea (OSA) is an independent risk factor for stroke. Furthermore, intracranial arterial calcification (IAC) has been validated as a marker for subclinical cerebrovascular disease. However, the relationship between OSA with IAC was less studied compared with its established association with coronary artery calcification (CAC). In this study, we aimed to investigate the association between the severity of OSA and the degree of IAC in hospitalized patients without pre-existing cardiovascular disease. Methods This hospital-based observational study was conducted from June 1, 2017, to May 1, 2019. In total, 901 consecutive patients who underwent head computed tomography (CT) scans and portable sleep monitoring were included. Based on the apnea–hypopnea index (AHI), patients were divided into four OSA severity groups (normal: AHI &lt;5/h; mild: 5≤ AHI &lt;15/h; moderate: 15≤ AHI &lt;30/h; severe: AHI ≥30/h). Associations of OSA with IAC scores were assessed by using multivariate logistic regression analysis. Results Of the 901 patients, 484 (53.7%) were men; the mean (SD) age was 66.1 (10.0) years. The non-OSA group included 207 (23.0%) patients; mild OSA, 209 (23.2%); moderate OSA, 235 (26.1%); and severe OSA, 169 (18.8%). Mean IAC scores were higher in the severe OSA group compared with non, mild, and moderate OSA groups (4.79 vs. 2.58; 4.79 vs. 2.94; 4.79 vs. 3.39, p&lt;0.001). Multivariate analysis adjusted for confounding factors revealed that only severe OSA was associated with a higher IAC score (odds ratio [OR] 1.65; 95% confidence interval [CI], 1.43–1.91; p&lt;0.001). In stratified analyses by BMI, among participants with a BMI &lt;25kg/m2, the positive association between AHI values and IAC scores was found in the moderate OSA group (OR, 1.23; 95% CI 1.05, 1.43, p=0.01) and severe OSA group (OR, 1.96; 95% CI 1.55, 2.48, p&lt;0.001). When stratified by gender, in women, the positive association was found in moderate OSA group (adjusted OR=1.21, 95% CI: 1.02–1.51, p=0.016) and severe OSA group (adjusted OR=1.76, 95% CI: 1.36–2.25, p&lt;0.001). For the men group, a positive association between IAC scores and AHI was only observed in the severe OSA group. Discussion These findings suggest that OSA, in particular severe OSA (AHI ≥ 30), is independently associated with higher IAC scores. Women and no-obesity individuals appeared more susceptible to adverse OSA-related subclinical cerebrovascular disease as measured by IAC scores.
DOI: 10.6084/m9.figshare.24083217
title: Supplementary Material for: Venous Thromboembolism in Metastatic Uterine Leiomyosarcoma: A Case Report and Review of the Literature

description: We report an unusual case of extensive deep vein thrombosis (DVT) and pulmonary embolism (PE) in the setting of metastatic uterine leiomyosarcoma. Recognition of the associated sequelae of this condition may improve short- and long-term outcomes. A 56-year-old black female with a history of uterine leiomyosarcoma diagnosed incidentally after total abdominal hysterectomy for fibroid uterus without initiation of chemoradiation treatment presented to the emergency department complaining of generalized weakness and progressively worsening stridor for two weeks. The patient was experiencing shortness of breath, dysphagia, and hoarseness. Physical exam was remarkable for rhonchi but was otherwise normal. Diagnostic imaging via CT of the abdomen, pelvis, and chest revealed DVTs of the left common and external iliac veins, the superior mesenteric artery, multiple pulmonary emboli of the right pulmonary artery, several nodular lesions within the lungs, and scattered peritoneal necrotic lesions, which were suspicious for metastatic disease. Additionally, CT of the neck showed an exophytic mass protruding into the airway from the subglottic region and thyromegaly with bilateral thyroid lobe nodules. The patient was subsequently started on Eliquis and chemotherapy. The rarity of this case is rooted in the extent of the patient’s DVTs and PEs secondary to hypercoagulability in metastatic cancer. This presentation should be further evaluated to exclude thrombophilias or underlying malignancies. Drawing from the lessons of this case will help guide future clinical management regarding the care of metastatic uterine leiomyosarcoma.
DOI: 10.6084/m9.figshare.24083808
title: Supplementary Material for: Two cases of anti-D alloimmunization in D-negative Thai patients as a result of the Asian type DEL on transfused red cells.

description: Introduction: DEL is known to be one of the weakest D variants, which can be detected by the adsorption-elution technique or by molecular study. Currently, in Thailand, we do not routinely test for DEL variant serologically or genetically among serologic Rh D negative blood donors. Case Presentation: We reported two cases of alloimmunization after transfused with Rh DEL, RHD*DEL1 allele, in the Thai population. The first case was a 73-year-old male with anemia who presented with post-cardiac arrest and septic shock. The patient was group B, RhD negative, and was transfused with RhD negative red blood cells (RBCs). Antibody screening and identification found that the patient developed anti-D and anti-Mia during the admission course. The second case was a 38-year-old woman with pseudomyxoma peritonei who developed anti-D after receiving four units of RhD negative RBCs during cytoreductive surgery with hyperthermic intraperitoneal chemotherapy. Both patients did not receive anti-D immunoglobulin and had no previous history of anti-D detection. We retrospectively investigated and found two units of RHD*DEL1 among the RBCs transfused to these patients. Discussion: Previous reports of several cases of anti-D alloimmunization in RhD-negative recipients transfused by RHD*DEL1, an Asian-type DEL, are limited only in East Asiaand one case in Austria. We first identified two patients with anti-D alloimmunization after receiving the RHD*DEL1 RBCs in the Thai population. This raises concern about Rh DEL screening among D-negative Thai blood donors and whether to remove DEL units from the D-negative inventory to improve patient safety.
DOI: 10.6084/m9.figshare.24125112
title: Supplementary Material for: Catheter-related bloodstream infection in hemodialysis patient due to Atlantibacter hermannii

description: Atlantibacter hermannii, previously known as Escherichia hermannii is a rare causative agent of human infections. Several reports testify that the most frequently infected patients are immunosuppressed, especially those undergoing hemodialysis. A 34-year-old man with an end-stage renal disease complained of chills, fever and general fatigue at the end of a regular hemodialysis session. The echocardiographic examination showed a vegetation located on the dialysis catheter in the right atrium. Empirical therapy was initiated with intravenous gentamicin and after the isolation of the agent, the treatment was continued with intravenous imipenem/cilastatin. The blood cultures and the tip of the replaced catheter were positive for A. hermannii, identified by Vitek 2 Compact. Verification of the automated identification was performed using 16S sequencing. The 16S sequence product was used to query the NCBI bacterial database and revealed 99.75% identity to that of A. hermannii strain CIP 103176 16S ribosomal RNA in the NCBI GenBank database. The antimicrobial susceptibility results revealed resistance to aminopenicillins and susceptibility to all other tested antimicrobials. To our knowledge, this is the first report of catheter-related vegetation with echocardiographic confirmation and the successful eradication of A. hermannii infection in a patient undergoing hemodialysis with imipenem/cilastatin.
DOI: 10.6084/m9.figshare.24161235
title: Supplementary Material for: Triple-A syndrome in Morocco: founder effect, age estimation of the AAAS c.1331+1G&gt;A variant and implications for genetic diagnosis

description: Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia and adrenal insufficiency. Several variants on the AAAS gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G&gt;A variant which is very frequent in North Africa. Here, we describe the genetic features of Triple-A in a series of unrelated families from Morocco. Methods: Screening for the AAAS c.1331+1G&gt;A variant was performed by direct sequencing or by PCR-RFLP. Haplotype analysis using Single Tandem Repeat (STR) markers flanking AAAS gene was performed in order to evaluate the founder effect and estimate the age of the c.1331+1G&gt;A variant. Results: Seven unrelated families with nine individuals clinically diagnosed with Triple-A were evaluated for sequence variations in the AAAS gene. The median age at diagnosis was 3 years with a range between 2 and 11 years. Molecular analysis revealed that all patients were homozygous for the c.1331+1G&gt;A variant. This variant was not found in 200 healthy controls, indicating that carriers are very rare in the general Moroccan population. Subsequently, STR markers analysis revealed a founder effect and that the most recent common ancestor of Triple-A patients in Morocco would have lived 125 years ago. Conclusion: This is the largest series of Triple-A in Morocco. The same AAAS c.1331+1G&gt;A variant was found in all patients, suggesting a founder effect in Morocco which was subsequently confirmed by microsatellite markers analysis. Therefore, this variant should be systematically investigated to diagnose Triple-A in Morocco.
DOI: 10.6084/m9.figshare.24186786
title: Supplementary Material for: Associations between Antiepileptic Use and Hypogammaglobulinaemia: Findings from a Population-Based Case-Control Study Using Data Linkage

description: <b><i>Background and Objectives:</i></b> Increased mortality in epilepsy due to infections (other than pneumonia) has been demonstrated. Small case series of people on antiepileptic drugs (AEDs) have described hypogammaglobulinaemia, which may predispose to infections. It is unclear whether hypogammaglobulinaemia is more frequent in people on AEDs, what AEDs it is associated with, or what clinical impact it has. In this population-based study, we aimed to determine whether AEDs were associated with hypogammaglobulinaemia, which AEDs were associated, and whether the associations may be causal. <b><i>Methods:</i></b> We conducted an unmatched case-control study using data linkage of routinely collected biochemistry, prescribing, and morbidity datasets in North-East Scotland from 2009–2021. Cases were participants with immunoglobulin levels less than the reference range. Controls were those with normal/high immunoglobulin levels. Logistic regression was used to investigate associations between AED exposure and any hypogammaglobulinaemia, adjusting for age, sex, and comorbidity. We also analysed low IgA, IgM, and IgG separately. We analysed “any AED” exposure and common individual drugs separately. Cumulative exposure data were used to determine whether an exposure-response relationship was present. <b><i>Results:</i></b> 18,666 cases and 127,157 controls were identified. Use of any AED was associated with increased risk of hypogammaglobulinaemia (adjusted odds ratio [aOR] 1.20 [95% CI: 1.15–1.25]). Phenytoin use was strongly associated with low IgA (aOR 5.90 [95% CI: 3.04, 10.43]). Carbamazepine and lamotrigine were also associated with low IgA. Apart from topiramate, which was associated with a non-significant decrease in odds of hypogammaglobulinaemia, there was a consistent increase in odds of hypogammaglobulinaemia across most AEDs studied. Panhypogammaglobulinaemia was associated with any AED use, carbamazepine, lamotrigine, gabapentin, and multiple AED use. There was evidence of an exposure-response relationship between any AED use and any hypogammaglobulinaemia, low IgA, and low IgG. Carbamazepine and probably lamotrigine also had an exposure-response relationship with any hypogammaglobulinaemia. <b><i>Discussion:</i></b> AEDs may increase hypogammaglobulinaemia risk. Specific classes of immunoglobulins are differentially affected, and the exposure-response analysis suggests this may be causal. Further work should investigate the clinical impact of these findings. Clinicians should check immunoglobulin levels if unusual or recurrent infections occur in patients treated with AEDs.
DOI: 10.6084/m9.figshare.24198141
title: Supplementary Material for: At the head and heart of oxytocin’s stress-regulatory neural and cardiac effects: a chronic administration RCT in children with autism

description: Introduction. Intranasal administration of oxytocin presents a promising new approach to reduce disability associated with an autism spectrum disorder diagnosis. Previous investigations have emphasized the amygdala as the neural foundation for oxytocin’s acute effects. To fully understand oxytocin’s therapeutic potential however, it is crucial to gain insight into the neuroplastic changes in amygdala circuitry induced from chronic oxytocin administrations, particularly in pediatric populations. Objective. We aimed to examine the impact of a four-week course of intranasal oxytocin on amygdala functional connectivity in children with autism, compared to placebo. Additionally, we investigated whether oxytocin improves cardiac autonomic arousal, as indexed by high-frequency heart rate variability. Methods. Fifty-seven (45 boys, 12 girls) children with autism aged 8-12 years participated in a double-blind, randomized pharmaco-neuroimaging trial involving twice-daily administrations of intranasal oxytocin or placebo. Resting-state fMRI scans and simultaneous, in-scanner heart rate recordings were obtained before, immediately after and four weeks after the nasal spray administration period. Results. Significant reductions in intrinsic amygdala-orbitofrontal connectivity were observed, particularly at the four-week follow-up session. These reductions correlated with improved social symptoms and lower cardiac autonomic arousal. Further, oxytocin’s neural and cardiac autonomic effects were modulated by epigenetic modifications of the oxytocin receptor gene. The effects were more pronounced in children with reduced epigenetic methylation, signifying heightened expression of the oxytocin receptor. Conclusion. These findings underscore that a four-week oxytocin administration course decreases amygdala connectivity and improves cardiac autonomic balance. Epigenetic modulators may explain inter-individual variation in responses to oxytocin.
DOI: 10.1285/i20398573v4n2p7
title: Informality and policy in the making: four flavours to explain the essence of informality

description: This short piece represents an attempt to classify informal practices with the simple goal of testing their applicability to different contexts and situations. Although more "informalities" can be "discovered", as a starting point, the four 'flavours' proposed in this editorial can point at the main directions informality studies have developed and provide 'food' for some initial reflections.
DOI: 10.6084/m9.figshare.23736036
title: Supplementary Material for: Sex differences in the neural song circuit and its relationship to song acoustic complexity in house wrens (Troglodytes aedon)

description: The song circuit in passerine birds is an outstanding model system for understanding the relationship between brain morphology and behavior, in part due to varying degrees of sex differences in structure and function across species. House wrens (Troglodytes aedon) offer a unique opportunity to advance our understanding of this relationship. Intermediate sex differences in song rate and complexity exist in this species compared to other passerines, and, among individual females, song complexity varies dramatically. Acoustic complexity in wild house wrens was quantified using a new machine learning approach. Volume, cell number, cell density, and neuron soma size were then measured for three song circuit regions, Area X, HVC (used as a proper name), and the robust nucleus of the arcopallium (RA), and one control region, the nucleus rotundus (Rt). For each song control area, males had a larger volume with more cells, larger somas, and lower cell density. Male songs had greater acoustic complexity than female songs, but these distributions overlapped. In females, increased acoustic complexity was correlated with larger volumes of and more cells in Area X and RA as well as larger soma size in RA. In males, song complexity was unrelated to morphology, although our methods may underestimate male song complexity. This is the first study to identify song control regions in house wrens and one of few examining individual variation in both sexes. Parallels between morphology and the striking variability in female song in this species provide a new model for understanding relationships between neural structure and function.
DOI: 10.6084/m9.figshare.24084495
title: Supplementary Material for: Risk Factors of Progression to Cognitive Frailty: Singapore Longitudinal Ageing Study 2

description: <b><i>Introduction:</i></b> Cognitive frailty is associated with higher risk of dementia and adverse health outcomes. However, multidimensional factors that influence cognitive frailty transitions are not known. We aimed to investigate risk factors of incident cognitive frailty. <b><i>Methods:</i></b> Prospective cohort study participants were community-dwelling adults without dementia and other degenerative disorders and baseline and follow-up, including <i>N</i> = 1,054 participants aged ≥55 free of cognitive frailty at baseline, with complete baseline (March 6, 2009, to June 11, 2013) and follow-up data at 3–5 years later (January 16, 2013, to August 24, 2018). Incident cognitive frailty was defined by one or more criteria of the physical frailty phenotype and &lt;26 of Mini-Mental State Examination (MMSE) score. Potential risk factors assessed at baseline included demographic, socioeconomic, medical, psychological and social factors, and biochemical markers. Data were analyzed using least absolute shrinkage selection operator (LASSO) multivariable logistic regression models. <b><i>Results:</i></b> A total of 51 (4.8%) participants, including 21 (3.5%) of the cognitively normal and physically robust participants, 20 (4.7%) of the prefrail/frail only, and 10 (45.4%) of cognitively impaired only, transited to cognitive frailty at follow-up. Risk factors for transition to cognitive frailty were having eye problem (OR = 2.6, 95% CI 1.24–5.43) and low HDL cholesterol (OR = 4.1, 95% CI 2.03–8.40), while protective factors for cognitive frailty transition were higher levels of education (OR = 0.3, 95% CI 0.10–0.74) and participation in cognitive stimulating activities (OR = 0.4, 95% CI 0.17–0.82). <b><i>Conclusion:</i></b> Multi-domain modifiable factors especially related to leisure activities predict cognitive frailty transition and may be targeted for prevention of dementia and associated adverse health outcomes.
DOI: 10.6084/m9.figshare.24088371
title: Supplementary Material for: Refractory intestinal Behçet-like disease associated with trisomy 8 myelodysplastic syndrome resolved by parenteral nutrition

description: Intestinal Behçet disease (BD), associated with myelodysplastic syndrome (MDS), is often refractory to treatment. An 80-year-old man with trisomy 8 MDS (refractory anemia) developed intermittent fever. Despite investigations to exclude infectious disease, autoimmune disease, and malignancy as the cause of the fever, the etiology could not be determined. A colonoscopy revealed several shallow round ulcers in the ileocecal region and ascending colon, and the biopsy specimens showed non-specific inflammation. Thereafter, the patient experienced abdominal pain and diarrhea. Other than an oral aphthous ulcer, the patient did not show symptoms to meet the diagnostic criteria for BD. The patient was diagnosed with intestinal ulcers (intestinal BD-like disease) with MDS and trisomy 8. After treatment failure with 5-aminosalicylic acid, steroid, colchicine, and azacytidine, cerebral infarction occurred. Eating was difficult because of the patient’s impaired consciousness; hence, total parenteral nutrition (TPN) was commenced. The fever and abdominal symptoms improved with bowel rest over approximately one month. Small amounts of food were orally administered to the patient following recovery from the after-effects of the cerebral infarction, but diarrhea and fever repeatedly flared up. Therefore, TPN was continued at home. The patient has not experienced any further intestinal BD symptoms for approximately one year with bowel rest. Nutritional therapy, including bowel rest, may be an effective treatment option for intestinal BD with MDS, and might be used as an induction therapy of remission or a supportive therapy for other treatments.