bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
Authors: Xie Dan , Wu Jiangfen , Zhang Wenyi , Jin Tingting , Wu Peng , An Banquan , Huang Shengwen 
Published: February 2023

Rationale:
Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS.

Patient concerns:
A 31-day-old male infant with diarrhea for 25 days and generalized edema for more than 10 days. There was no family history of kidney disease. On proband whole exome sequencing, a compound heterozygous mutation of the NPHS1 gene was identified, including a novel in-frame mutation in exon 14 (c.1864_1866dupACC p. T622dup) and a missense mutation in exon 8 (c.928G>A p. D310N).

Diagnoses:
Based on the clinical and genetic findings, this patient was finally diagnosed with CNS.

Interventions:
The main treatment options for the patient were 2-fold: anti-infective treatment and symptomatic treatment.

Outcomes:
The patient died in follow-up 2 months later; the specific reason for death was unclear.

Lessons:
Whole exome sequencing and Sanger sequencing confirmed that the infant had CNS. Our study identified a novel mutation in an infant, thus expanding the gene-mutation spectrum of the NPHS1 gene, thus providing an efficient prenatal screening strategy and early genetic counseling.
Efficacy of blood urea nitrogen-to-albumin ratio for predicting prognostic outcomes of inpatients with COVID-19: A meta-analysis
Authors: Hung Kuo-Chuan , Li Yu-Yu , Huang Yen-Ta , Liu Ping-Hsin , Hsu Chih-Wei , Ho Chun-Ning , Hung I-Yin , Chang Fu-Sheng , Sun Cheuk-Kwan 
Published: February 2023

Background:
The associations between blood urea nitrogen (BUN)/albumin ratio and poor prognosis in patients with diagnosis of coronavirus disease 2019 (COVID-19) remain to be clarified.

Methods:
A search based on 4 electronic databases (i.e., EMBASE, Google scholar, MEDLINE, and Cochrane Library) was performed on June 23, 2022. The association of BUN/Albumin ratio with poor prognostic outcomes, defined as patients with mortality/severe illnesses, were analyzed.

Results:
Results from analysis of 7 cohort studies (3600 individuals with COVID-19) published between 2020 and 2022 showed a higher BUN/Albumin ratio in the poor-prognosis group (Mean difference:  = 2.838, 95% confidence interval: 2.015–3.66, P < .001, I
2 = 92.5%) than the good-prognosis group. Additional investigation into the connection between BUN/Albumin ratio as a binary variable (i.e., high or low) and the risk of poor outcome also supported an association between a higher BUN/Albumin ratio and a poor prognostic risk (odd ratio = 3.009, 95% confidence interval: 1.565–5.783, P = .001, I
2 = 93.7%, 5 studies). Merged analysis of poor prognosis produced a sensitivity of 0.76, specificity of 0.72, and area under curve of 0.81.

Conclusion:
This meta-analysis demonstrated a positive correlation between BUN/albumin ratio and poor outcome in patients with COVID-19. Additional large-scale prospective studies are needed to verify our findings.
Microsurgical complication associated with vaccine-induced immune thrombotic thrombocytopenia (VITT): A case report
Authors: Hung Chen-Ting , Hsu Honda 
Published: February 2023

Rationale:
The use of ChAdOx1 nCoV-19 (Astra Zeneca) vaccine has proven beneficial, but in a limited number of the general population, it was found to be associated with vaccine-induced immune thrombotic thrombocytopenia (VITT). However, there have been no reports of this complication occurring in a microsurgical free tissue transfer.

Patient concerns:
A 49-year-old man developed an acute myocardial infarction 3 weeks after receiving his first dose of ChAdOx1 nCoV-19 in June 2021. Three months later, he presented with right third toe wet gangrene with extension into the plantar foot nine days after receiving his second dose of ChAdOx1 nCoV-19 vaccine.

Diagnosis:
Based on recent exposure to vaccination, the timing of inoculation before the development of his symptoms, and serology tests (platelet, D-dimer, and anti-PF4 antibodies), the patient was diagnosed with VITT.

Interventions:
Fasciectomy and sequestrectomy were performed for wound bed preparation. Limb salvage was done using free vastus lateralis muscle flap and skin graft for reconstruction.

Outcome:
The flap was complicated by persistent microthrombi leading to superficial necrosis without vascular pedicle compromise. Repeated debridement of the superficial necrosis was done. Three months after the development of VITT, no further new superficial necrosis was seen. A well-contoured flap was seen 5 months after the initial surgery.

Lessons:
We believe this is the first case describing microthrombi in the free flap due to VITT after microsurgical reconstruction. Patients and surgeons should be advised of this possible risk when contemplating microsurgery once VITT has developed after ChAdOx1 nCoV-19 administration.
Abrocitinib for the Treatment of Moderate-to-Severe Atopic Dermatitis
Authors: Villegas Susan C. , Dima Lorena 
Published: February 2023

Background:
Atopic dermatitis (AD) is ranked as the third most prevalent skin condition with a worldwide prevalence of 2.4%. Atopic dermatitis is a common form of eczema. It develops in infancy or childhood and continues into adulthood with symptoms ranging from mild to severe. Pruritis and inflammation are the hallmark symptoms of AD.

Mechanism of Action, Pharmacodynamics, and Pharmacokinetics:
Abrocitinib is a JAK1 selective inhibitor; inhibition results in a decreased interleukin (IL) 4 activation and decreased pruritis in a patient with AD. Abrocitinib is hepatically metabolized by multiple cytochrome P450 enzymes, and dose modification may be required when administered with concurrent medications.

Clinical Trials:
At least 6 JAK1 Atopic Dermatitis Efficacy and Safety (JADE) trials were conducted evaluating Investigator's Global Assessment and Eczema Area and Severity Index score for efficacy. All JADE trials showed abrocitinib 100 mg and 200 mg doses efficacious when compared with placebo. Common adverse reactions were related to gastrointestinal disturbances, headache, and acne. Serious adverse reactions to assess risk for include serious infections, malignancy, major adverse cardiovascular events, and venous thromboembolisms.

Therapeutic Advance:
Abrocitinib provides a valuable treatment option for patients with moderate-to-severe AD unresponsive to other therapies for those candidates without a high risk for significant adverse reaction associated with its use.
Atypical Case of Fractal Wood Burning
Authors: Rohrer Charles T. , Kallan Jamie E. 
Published: February 2023

Abstract
Fractal wood burning is a form of pyrography that uses high-voltage electricity to burn branching, Lichtenberg-type patterns into a wooden canvas. This process often uses electrical transformers salvaged from household appliances, such as microwave ovens, to amplify available voltage to potentially lethal levels. In this case, 2 individuals were found dead inside their burned residential garage. Initially, law enforcement was suspicious of a double homicide with subsequent arson. However, postmortem examination showed the decedents had neither fatal antemortem trauma nor significant natural disease. Findings consistent with smoke inhalation were absent, suggesting that the victims were deceased before the fire. Interestingly, one decedent had jumper cables in their hand, and their recent computer activity included fractal wood burning–related content. Upon further scene investigation, 2 microwave ovens were identified in the garage, one of which had been disassembled with its transformer found adjacent to the bodies. The decedents likely died from high-voltage electrocution with ignition of the wooden canvas starting the structural fire. Since the first reported case in 2016, there have been 33 reported deaths attributed to fractal wood burning. The current study would be the first to report multiple fatalities due to a single fractal wood burning event.
Breast Cancer and Physiologic Avidity From Breast Feeding on FDG PET/CT
Authors: Ulaner Gary A. 
Published: February 2023

Abstract
A 35-year-old woman presented with breast cancer diagnosed during pregnancy. Eleven days after delivery, the patient underwent FDG PET/CT for systemic staging. Avidity was seen diffusely in both breasts, with a more avid focus at the site of a biopsy clip in the right breast. There were no lymph nodes or distant metastases. The patient was actively breast feeding, explaining the diffuse breast avidity. This case demonstrates both malignant and benign FDG avidity in the breasts at the same time, with a focal FDG-avid right breast malignancy identified among bilateral breast parenchyma with elevated physiologic FDG-avid secondary to breast feeding.
Increased 18F-Fluoroestradiol Uptake of Radiation Pneumonitis in a Patient With Metastatic Breast Cancer
Authors: Pan Bo , Hao Zhixin , Zhou Yidong , Sun Qiang , Huo Li 
Published: February 2023

Abstract
A 42-year-old woman diagnosed with de-novo stage IV breast cancer underwent 18F-fluoroestradiol (FES) PET/CT to evaluate the estrogen receptor status of metastatic lesions. The largest pulmonary nodule showed obvious FES uptake, consistent with pulmonary metastases from breast cancer. Interestingly, the images revealed a striking accumulation of FES in ground-glass attenuation in the left lobe of lung, suggestive of radiation pneumonitis.
COVID Vaccination Status and Operative Outcomes after Kidney Transplantation
Authors: Kushner Bradley S , Doyle Maria B , Khan Adeel S , Lin Yiing , Alhamad Tarek , Yu Jennifer , Chapman William C , Wellen Jason R 
Published: February 2023

Introduction:
Kidney transplantation remains the best available treatment for end-stage renal disease. However, promoting graft longevity and preventing allosensitization requires strict adherence with a stringent immunosuppression regimen. The COVID-pandemic has offered new challenges for kidney transplant patients and many transplant centers are denying transplantation to unvaccinated patients. The aim of this study was to evaluate whether unvaccinated patients had inferior adherence following kidney transplantation along with a reduction in graft survival.

Methods:
Patients undergoing a deceased donor kidney transplant at a single academic medical center from February 2021-May 2022 were retrospectively reviewed. February 2021 was chosen as a start date for record review as this was 3 months after the first COVID vaccination was authorized for Emergency Use. Patients were considered “vaccinated” if they received one dose or more of any mRNA vaccine by their transplant date.

Results:
There were 301 patients who met study criteria (234 vaccinated; 67 unvaccinated. Cohorts stratified by vaccination status were well-matched. However, younger age was an independent risk factor for non-vaccination. Interestingly, unvaccinated patients had worse postoperative adherence with an increased average number of postoperative clinic visits missed (p=0.03) and a strong trend towards missing .3 postoperative clinic visits (p=0.07). Lastly, unvaccinated patients had statistically more subtherapeutic tacrolimus troughs (p=0.01).

Conclusions:
COVID-unvaccinated patients had higher rates of postoperative nonadherence in key areas of immunosuppression monitoring and clinic visit attendance. Providers should be cognizant that vaccination status may pose as a harbinger for poor adherence and stricter strategies for patient outreach are critical to ensure graft success in this vulnerable patient population.
Suicidal Ideation and Electroconvulsive Therapy
Authors: Cai Haipeng , Du Ruonan , Song Jiaqi , Wang Zhiren , Wang Xin , Yu Yongjun , Wang Yanan , Shang Lan , Zhang Jianxin , Yang Kebing , Li Wei 
Published: February 2023

Objective
Few studies on electroconvulsive therapy (ECT) investigate efficacy and safety on depressive adolescents with strong suicidal ideation. Our study examined adolescents (aged 13–18 years) with major depressive disorder to explore ECT effectiveness in improving suicidal ideation and depressive symptoms, as well as its impact on cognitive function.

Methods
This nonrandomized controlled trial enrolled 183 adolescent patients suffering from major depressive disorder. The ECT group (n = 81) was treated with antidepressants and 8 rounds of ECT for 2 weeks. The control group comprised 79 patients treated with antidepressants only. Depressive symptoms, suicidal ideation, and cognitive functions were assessed at baseline (pre-ECT) and at 2 and 6 weeks post-ECT.

Results
The ECT group showed significant improvements over control in suicidal ideation from the end of treatment to 6 weeks after (P < 0.001). Depressive symptoms also improved (P < 0.001). Patients treated with ECT demonstrated poorer performance in delayed memory, attention, and language, but these impairments were transient. Thus, ECT was generally safe in adolescent patients with major depressive disorder.

Conclusions
Our findings verified ECT as effective and safe for improving suicidal ideation and depressive symptoms of adolescent patients with major depressive disorder. In addition, partially impaired cognitive function recovered gradually after ECT.
An Unusual Presentation of Pseudomonas citronellolis Bacteremia and Campylobacter Gastroenteritis Infection in a Human – A Case Report and Literature Review
Authors: Hwang Catherine S. , Rahmati Elham , Gerbino Anthony J. , Rose Tracie M , Verma Punam , Schwartz Margot 
Published: February 2023

Introduction: Pseudomonas citronellolis is an unusual pathogen in humans and has not been extensively described in the scientific literature. Herein, we present a case of bacteremia and septic shock due to Pseudomonas citronellolis following Campylobacter species gastroenteritis in a patient with immunosuppression.
Case Presentation: An 80-year-old man with myeloproliferative disorder on ruxolitinib presented with several days of worsening abdominal pain, which rapidly developed into septic shock with multi-organ failure and explosive diarrhea. Gram-negative bacilli observed in Gram staining of his blood culture broth were later identified as Pseudomonas citronellolis and Bacteroides thetaiotaomicron. Repeated abdominal imaging revealed no evidence of intestinal perforation or megacolon. In addition, stool polymerase chain reaction was positive for Campylobacter species. His clinical course improved after a total of 14 days of meropenem with complete resolution of his symptoms and organ failure.
Conclusion: Pseudomonas citronellolis is a rare infection in humans. We postulate that Janus Associated Kinase (JAK) inhibition in myeloproliferative disorders heightened this patient’s risk of bacterial translocation and severe illness in the setting of Campylobacter gastroenteritis. Pseudomonas citronellolis may be identified more frequently as a pathogen in humans as more advanced diagnostic technologies become increasingly available in clinical microbiology.
Eye-brain connections revealed by multimodal retinal and brain imaging genetics in the UK Biobank
Authors: Zhao Bingxin , Li Yujue , Fan Zirui , Wu Zhenyi , Shu Juan , Yang Xiaochen , Yang Yilin , Wang Xifeng , Li Bingxuan , Wang Xiyao , Copana Carlos , Yang Yue , Lin Jinjie , Li Yun , Stein Jason L. , O’Brien Joan M. , Li Tengfei , Zhu Hongtu 
Published: February 2023

AbstractAs an anatomical extension of the brain, the retina of the eye is synaptically connected to the visual cortex, establishing physiological connections between the eye and the brain. Despite the unique opportunity retinal structures offer for assessing brain disorders, less is known about their relationship to brain structure and function. Here we present a systematic cross-organ genetic architecture analysis of eye-brain connections using retina and brain imaging endophenotypes. Novel phenotypic and genetic links were identified between retinal imaging biomarkers and brain structure and function measures derived from multimodal magnetic resonance imaging (MRI), many of which were involved in the visual pathways, including the primary visual cortex. In 65 genomic regions, retinal imaging biomarkers shared genetic influences with brain diseases and complex traits, 18 showing more genetic overlaps with brain MRI traits. Mendelian randomization suggests that retinal structures have bidirectional genetic causal links with neurological and neuropsychiatric disorders, such as Alzheimer’s disease. Overall, cross-organ imaging genetics reveals a genetic basis for eye-brain connections, suggesting that the retinal images can elucidate genetic risk factors for brain disorders and disease-related changes in intracranial structure and function.
Semantic Retrieval of Similar Radiological Images using Vision Transformers
Authors: Thakrar Anjali , Jayasuriya Michael , Serapio Adrian , Wu Xiao , Davis Eric , Schroeder Jamie , Vella Maya , Sohn Jae Ho 
Published: February 2023

AbstractBackgroundIdentifying visually and semantically similar radiological images in a database can facilitate the creation of decision support tools, teaching files, and research cohorts. Existing content-based image retrieval tools are often limited to searching by pixel-wise difference or vector distance of model predictions. Vision transformers (ViT) use attention to simultaneously take into account radiological diagnosis and visual appearance.PurposeWe aim to develop a ViT-based image retrieval framework and evaluate the algorithm on NIH Chest Radiographs (CXR) and NLST Chest CTs.Materials and MethodsThe model was trained on 112,120 CXR and 111,955 CT images. For CXR, a ViT binary classifier was trained on 4 ground truth labels (Cardiomegaly, Opacity, Emphysema, No Finding) and ensembled to produce multilabel classifications for each CXR. For CT, a regression model was trained to minimize L1 loss on the continuous ground truth labels of patient weight. The ViT image embedding layer was treated as a global image descriptor, using the L2 distance between descriptors as a similarity measure. To qualitatively evaluate the model, five radiologists performed a reader performance study with random query images (25 CT, 25 CXR). For each image, they chose the 5 most similar images from a set of 10 images (the 5 closest and 5 furthest images from the query in model space). Inter-radiologist and radiologist-model agreement statistics were calculated.ResultsThe CXR model achieved nDCG@5 of 0.73 (p<0.001) and Cardiomegaly mAP@5 of 0.76 (p<0.001) among other results. The CT model achieved nDCG of 16.85 (p<0.001). The model prediction agreed with radiologist consensus on 86% of CXR samples and 79.2% of CT samples. Inter-radiologist Fleiss Kappa of 0.51 and radiologist-consensus-to-model Cohen’s Kappa of 0.65 were observed. A t-SNE of the CT model latent space was generated to validate similar image clustering.ConclusionOur ViT architecture retrieved visually and semantically similar radiological images.Summary StatementThis study evaluates the efficacy of using ViT based image embeddings for CBIR tasks for CXR and CT images, finding that it performs well on visual and semantic recognition tasks.Key ResultsThe CXR model achieved nDCG@5 of 0.73 (p<0.001) and Cardiomegaly mAP@5 of 0.76 (p<0.001) among other results for CXR.The CT model achieved nDCG of 16.85 (p<0.001). The model prediction agreed with radiologist consensus on 86% of CXR samples and 79.2% of CT samples.Inter-radiologist Fleiss Kappa of 0.51 and radiologist consensus to model Cohen’s Kappa of 0.65 were observed.
Dancing the Nanopore limbo – Nanopore metagenomics from small DNA quantities for bacterial genome reconstruction
Authors: Simon Sophie A. , Schmidt Katharina , Griesdorn Lea , Soares André R. , Bornemann Till L. V. , Probst Alexander J. 
Published: February 2023

AbstractBackgroundWhile genome-resolved metagenomics has revolutionized our understanding of microbial and genetic diversity in environmental samples, assemblies of short-reads often result in incomplete and/or highly fragmented metagenome-assembled genomes (MAGs), hampering in-depth genomics. Although Nanopore sequencing has increasingly been used in microbial metagenomics as long reads greatly improve the assembly quality of MAGs, the recommended DNA quantity usually exceeds the recoverable amount of DNA of environmental samples. Here, we evaluated lower-than-recommended DNA quantities for Nanopore library preparation by determining sequencing quality, community composition, assembly quality and recovery of MAGs.ResultsWe generated 27 Nanopore metagenomes using the commercially available ZYMO mock community and varied the amount of input DNA from 1000 ng (the recommended minimum) down to 1 ng in eight steps. The quality of the generated reads remained stable across all input levels. The read mapping accuracy, which reflects how well the reads match a known reference genome, was consistently high across all libraries. The relative abundance of the species in the metagenomes was stable down to input levels of 50 ng. High-quality MAGs (> 95% completeness, ≤ 5% contamination) could be recovered from metagenomes down to 35 ng of input material. When combined with publicly available Illumina reads for the mock community, Nanopore reads from input quantities as low as 1 ng improved the quality of hybrid assemblies.ConclusionOur results show that the recommended DNA amount for Nanopore library preparation can be substantially reduced without any adverse effects to genome recovery and still bolster hybrid assemblies when combined with short-read data. We posit that the results presented herein will enable studies to improve genome recovery from low-biomass environments, enhancing microbiome understanding.
Alteration of functional connectivity in the cortex and major brain networks of non-human primates following focused ultrasound exposure
Authors: Liu D , Munoz F , Sanatkhani S , Pouliopoulos A N , Konofagou E , Grinband J , Ferrera VP 
Published: February 2023

AbstractFocused ultrasound (FUS) is a non-invasive neuromodulation technology that is being investigated for potential treatment of neurological and psychiatric disorders. Focused ultrasound combined with microbubbles can temporarily open the intact blood-brain barrier (BBB) of animals and humans, and facilitate drug delivery. FUS exposure, either with or without microbubbles, has been demonstrated to alter the behavior of non-human primates, and previous work has demonstrated transient and long-term effects of FUS neuromodulation on functional connectivity using resting state functional MRI. However, it is unknown whether opening the BBB affects functional connectivity differently than FUS alone. Thus we applied FUS alone (neuromodulation) and FUS with microbubbles (BBB opening) in the dorsal striatum of lightly anesthetized non-human primates, and compared changes in functional connectivity in major brain networks. We found different alteration patterns between FUS neuromodulation and FUS-mediated BBB opening in several cortical areas, and we also found that applying FUS to a deep brain structure can alter functional connectivity in the default mode network and frontotemporal network.