bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development of central retinal artery occlusion accompanied by choroidal folds in a patient with antineutrophil cytoplasmic antibody-associated vasculitis
Authors: Takagi Mai , Kobayashi Takatoshi , Kida Teruyo , Takai Nanae , Shoda Hiromi , Maruyama Koichi , Tada Rei , Makino Shigeki , Ikeda Tsunehiko 
Published: August 2020

Abstract

Rationale:
We report a case of central retinal artery occlusion (CRAO) accompanied by choroidal folds in a patient positive for myeloperoxidase (MPO)-antineutrophil cytoplasmic antibody (ANCA).

Patient concerns:
The study involved a 67-year-old female patient who presented at the Department of Ophthalmology, Osaka Medical College, Takatsuki-City, Osaka, Japan on October 24, 2016 after becoming aware of a sudden decrease of visual acuity (VA) in her right eye. Other than suffering with scleritis 6-months previous, there was no obvious past history.

Diagnosis:
Upon examination, the VA in her right eye was hand motion, and the anterior segment of that eye showed thinning of the superior sclera. Macular edema in the inner retina and cherry red spots were observed in the ocular fundus, and optical coherence tomography (OCT) findings showed hyperreflectivity of the inner retina and choroidal folds. Fluorescein angiography (FA) examination of the fundus showed scattered areas of no retinal perfusion, and indocyanine green angiography (IA) findings of the fundus indicated a possible choroidal circulatory disturbance in her right eye. Blood test findings revealed the patient to be positive for MPO-ANCA. Based on the above findings, the patient was diagnosed with CRAO and choroidal circulatory disturbance due to ANCA-associated vasculitis.

Interventions:
For treatment, steroid semi-pulse therapy was initiated.

Outcomes:
Post treatment initiation, the fundus features and choroidal folds gradually improved, and her VA slightly improved to 0.08.

Lessons:
Based on the FA, IA, and OCT findings, the present case was considered to have CRAO accompanied by choroidal circulatory disturbance due to ANCA-associated vasculitis, a rare disease that may be complicated by choroidal circulatory disturbances.
Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist
Authors: Terakawa Aiko , Chujo Daisuke , Yasuda Kazuki , Ueno Keisuke , Nakamura Tomoka , Hamano Shoko , Ohsugi Mitsuru , Tanabe Akiyo , Ueki Kohjiro , Kajio Hiroshi 
Published: August 2020

Abstract

Rationale:
Maturity-onset diabetes of the young type 5 (MODY 5) is a form of monogenic diabetes that is often accompanied by pancreatic dysfunction. To date, no cases of MODY 5 treated with glucagon-like peptide-1 receptor agonist (GLP-1RA) have been reported. We present the first case of MODY 5 treated with GLP-1RA.

Patient concerns:
A 17-year-old woman, with a history of being operated for congenital ileal atresia at birth, was admitted to our hospital due to hyperglycemia. She had been clinically diagnosed with type 1 diabetes 1 month prior, and administered 14 units of insulin glargine 300 U/mL per day.

Diagnosis:
She had hypopotassemia, hypomagnesaemia, pancreatic body, and tail defects, multiple renal cysts, and a family history of diabetes, and urogenital anomaly. Genetic testing revealed heterozygous deletion of hepatocyte nuclear transcription factor-1 beta, leading to the diagnosis of MODY 5.

Interventions:
The patient was treated with multiple daily insulin injections for 9 days (22 units/d) before administration of GLP-1RA, and then liraglutide was initiated.

Outcomes:
Liraglutide treatment (0.6 mg/d) alone maintained the patient's glycated hemoglobin level below 7.0% for at least 12 months after discharge. A higher dose, 0.9 mg/d, of liraglutide was not tolerated by the patient due to nausea. Serum levels of C-peptide immunoreactivity were 1.15 ng/mL and 1.91 ng/mL, respectively, after 6 and 12 months of liraglutide therapy.

Lessons:
GLP-1RA might be effective at regulating glucose metabolism by utilizing residual pancreatic endocrine function in patients with MODY 5. Imaging and genetic screening were helpful in the diagnosis of MODY 5.
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2
Authors: Chen Lin , Jiang Yu , Wang Jing 
Published: August 2020

Abstract

Rationale:
Rhabdomyoma is the most common type of fetal heart tumors and 50% to 60% of cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). TSC is characterized by hamartomas in multiple organ systems including the brain, heart, skin, lungs, and kidneys, resulting in complications such as learning difficulties, epilepsy, behavioral problems, and renal failure. The etiological diagnosis of Rhabdomyoma is very important.

Patient concerns:
A 22-year-old G2P0 woman chose to terminate the pregnancy at 24 + 4 weeks of gestation because of the presence of a cardiac space-occupying lesion in the fetus.

Diagnoses:
The pathological diagnosis of cardiac neoplasm tissue was cardiac rhabdomyoma, but the etiology was unknown.

Interventions:
Targeted exome capture, next-generation sequencing (NGS) and sanger sequencing were performed on peripheral blood lymphocytes and paternal sperm.

Outcomes:
Targeted exome capture sequencing revealed a novel heterozygous variant (NM_000548, c.2294delC) in the tuberous sclerosis 2 (TSC2) gene. Sanger sequencing of maternal blood samples showed no mutation at this locus, however, suspected low level mosaicism was observed in paternal blood samples. Deep NGS analysis showed that about 7% paternal alleles from peripheral blood leucocytes and 20% paternal alleles from sperm carried the mutation consistent with somatic and germinal mosaicism.

Lessons:
For fetuses suspected of TSC, when pathogenic mutations are detected in the tuberous sclerosis 1 (TSC1) or TSC2 gene, it is recommended that the parents should be screened by deep NGS and their germ cells are screened as well if necessary, which would help to predict the risk of TSC recurrence in the next pregnancy.
Does single gene expression omnibus data mining analysis apply for only tumors and not mental illness? A preliminary study on bipolar disorder based on bioinformatics methodology
Authors: You Xu , Zhang Yunqiao , Long Qing , Liu Zijun , Feng Ziqiao , Zhang Wengyu , Teng Zhaowei , Zeng Yong 
Published: August 2020

Abstract

Background:
Bipolar disorder (BD), a common kind of mood disorder with frequent recurrence, high rates of additional comorbid conditions and poor compliance, has an unclear pathogenesis. The Gene Expression Omnibus (GEO) database is a gene expression database created and maintained by the National Center for Biotechnology Information. Researchers can download expression data online for bioinformatics analysis, especially for cancer research. However, there is little research on the use of such bioinformatics analysis methodologies for mental illness by downloading differential expression data from the GEO database.

Methods:
Publicly available data were downloaded from the GEO database (GSE12649, GSE5388 and GSE5389), and differentially expressed genes (DEGs) were extracted by using the online tool GEO2R. A Venn diagram was used to screen out common DEGs between postmortem brain tissues and normal tissues. Functional annotation and pathway enrichment analysis of DEGs were performed by using Gene ontology and Kyoto Encyclopedia of Genes and Genomes analyses, respectively. Furthermore, a protein-protein interaction network was constructed to identify hub genes.

Results:
A total of 289 DEGs were found, among which 5 of 10 hub genes [HSP90AA1, HSP90AB 1, UBE2N, UBE3A, and CUL1] were identified as susceptibility genes whose expression was downregulated. Gene ontology and Kyoto Encyclopedia of Genes and Genomes analyses showed that variations in these 5 hub genes were obviously enriched in protein folding, protein polyubiquitination, apoptotic process, protein binding, the ubiquitin-mediated proteolysis pathway, and protein processing in the endoplasmic reticulum pathway. These findings strongly suggested that HSP90AA1, UBE3A, and CUL 1, which had large areas under the curve in receiver operator curves (P < .05), were potential diagnostic markers for BD.

Conclusion:
Although there are 3 hub genes [HSP90AA1, UBE3A, and CUL 1] that are tightly correlated with the occurrence of BD, mainly based on routine bioinformatics methods for cancer-related disease, the feasibility of applying this single GEO bioinformatics approach for mental illness is questionable, given the significant differences between mental illness and cancer-related diseases.
Lymphocyte infiltration and key differentially expressed genes in the ulcerative colitis
Authors: Zhang Junhui , Shi Guixiu 
Published: August 2020

Abstract

Background:
Ulcerative colitis (UC) was a type of inflammatory bowel diseases, which was difficult to cure and even would malignant turn into colon cancer. The specific etiology and molecular mechanism of UC were unclear to date. The purpose of this study was to search for new targets for the diagnosis and treatment of UC.

Methods:
Firstly, we downloaded the gene expression data of UC from the gene expression omnibus database database (GSE107499), and used multiple bioinformatics methods to find differently expressed genes (DEGs) in UC. Subsequently, we evaluated the lymphocyte infiltration in UC inflamed colon tissue by using the cell type identification by estimating relative subset of known RNA transcripts method.

Results:
We obtained 1175 DEGs and 8 hub genes (IL6, TNF, PTPRC, CXCL8, FN1, CD44, IL1B, and MMP9) in this study. Among them, 903 DEGs were up-regulated and 272 DEGs were down-regulated. Compared with non-inflamed colon tissues, the inflamed colon tissues had higher levels of memory B cells, activated memory CD4+ T cells, follicular helper T cells, M1 macrophages, resting dendritic cells, activated dendritic cells, activated mast cells, and neutrophils, whereas the proportions of plasma cells, resting memory CD4+ T cells, gamma delta T cells, activated NK cells, M2 macrophages and resting mast cells were relatively lower.

Conclusions:
The DEGs, hub genes and different lymphatic infiltration conditions can provide new targets for diagnosis and treatment of UC. However, these were just predictions through some theoretical methods, and more basic experiments will be needed to prove in the future.
Is bioabsorbable screw an alternative choice for displaced medial epicondylar fractures in adolescents
Authors: Li Jin , Rai Saroj , Ze Renhao , Tang Xin , Liu Ruikang , Hong Pan 
Published: August 2020

Abstract
In adolescent patients, cannulated lag screw (CLS) is a widely accepted choice for fixation of the medial epicondylar fracture of the humerus (MEFH). Absorbable implants, including rod, screw, and mini-plate, have been reported in children. However, to the best of our understanding, this study is the first head-to-head comparative study of CLS versus bioabsorbable screw (BS) in the treatment of MEFH.
Patients of MEFH operated at our institute, from January 2010 to January 2016, were reviewed retrospectively. The patients were divided into 2 groups, the CLS group and the BS group, as per the type of implant the patient received. The CLS group consisted of 35 patients, whereas the BS group consisted of 30 patients. Demographic data, including sex, age at the time of surgery, operated side, and implant material, were collected from the hospital database. Elbow range of motion (ROM), radiographic manifestation was recorded during the out-patient visit. The elbow joint function was evaluated according to the Broberg and Morrey elbow scale and Mayo elbow performance index score.
Thirty patients, including 18 males and 12 females, were included in the CLS group, whereas 35 patients, including 21 males and 14 females, were included in the BS group. At 6-month follow-up, elbow range of motion, Broberg and Morrey elbow scale and Mayo elbow performance index scale showed no significant difference between the 2 groups. The carrying angle was within the normal range in both groups. There was no nonunion or malunion in either group. The rate of hypoplasia or hyperplasia was low in both groups, 3.3% in CLS and 2.9% in BS. The rate of implant prominence was significantly higher in the CLS group (33.3%) than BS (0%).
Both CLS and BS are safe and effective choices for displaced MEFH in adolescents. The BS can produce a satisfactory clinical outcome and is comparable to the CLS. Besides, the BS has the advantage of not needing second surgery for implant removal.
Computed tomography-guided coil localization for sub-fissural lung nodules
Authors: Li Er-Liang , Cao Wei , Li Yu , Zhang Miao 
Published: August 2020

Abstract
This study was designed to explore the safety, feasibility, and clinical efficacy of preoperative computed tomography (CT)-guided coil localization of sub-fissural lung nodules (LNs). A total of 105 LN patients underwent CT-guided coil localization followed by video-assisted thoracoscopic surgery (VATS)-guided wedge resection at our hospital from January 2016 to December 2019. Of these patients, 4 had sub-fissural LNs and were therefore subjected to trans-fissural coil localization procedures. We analyzed data pertaining to the coil localization and VATS procedures in these patients. A total of 4 coils were used to localize 4 LNs in 4 separate patients. One of these patients suffered from parenchymal hemorrhage around the needle path, while one other patient exhibited asymptomatic pneumothorax following coil localization. A thoracoscope was able to successfully visualize the coil tails in all of these patients. There were no instances of coils having been dislodged, and wedge resection was conducted with a 100% technical success rate in these patients. These 4 LNs were subsequently diagnosed as adenocarcinomas in situ (n = 3) and benign nodules (n = 1). CT-guided coil localization can be used to safely and easily localize sub-fissural LNs in patients scheduled to undergo VATS.
Effectiveness of new nerve blocks method on the articular branches of the suprascapular and subscapular nerves to treat shoulder pain
Authors: Lee Sang Hoon , Choi Hyun Hee , Lee Dong Gyu 
Published: August 2020

Abstract
To evaluate the effectiveness and safety of performing nerve blocks on the articular branches of the suprascapular and subscapular nerves for the treatment of shoulder pain caused by various pathologies.
Fifty-two patients with shoulder pain were included in this study. Suprascapular and subscapular nerve blocks were performed with 2.5 mL anesthetic solution (2 mL of 0.5% bupivacaine and 0.5 mL of 2 mg/mL dexamethasone). The subjects were evaluated before the procedure and 1, 3, and 6 months afterward by means of the numeric rating scale and the shoulder pain and disability index. A post-injection pain reduction of >50% and <50% was considered a positive and negative response to the blocks, respectively.
After nerve blocks, the mean numeric rating scale and shoulder pain and disability index scores were significantly reduced from pre-injection values, and this effect persisted for 6 months after injection. The positive and negative response groups consisted of 31 (60%) and 21 (40%) patients, respectively. The positive response group showed significantly better outcomes on the numeric rating scale and shoulder pain and disability index compared with the negative response group. No patients reported adverse effects either during or after the procedure.
Performing nerve blocks on the articular branches of the suprascapular and subscapular nerves resulted in positive outcomes for shoulder pain patients. Regardless of shoulder pathology, this new injection method can be safely used in shoulder pain patients.
Noninvasive Monitoring of Deep Tissue Oxygenation in Buried Flaps by Time-Resolved Near-Infrared Spectroscopy in Pigs
Authors: Lartizien Rodolphe , Planat-Chrétien Anne , Berger Michel , Henry Maxime , Coll Jean-Luc , Dot Audrey , Bettega Georges 
Published: August 2020

Background:
Flap monitoring in reconstructive surgery is particularly important because flap failure is a dramatic event for the patient and for the medical team. Noninvasive deep tissue oxygenation monitoring is a challenge. The aim of this experimental study was to assess the performance of time-resolved near-infrared spectroscopy compared with continuous-wave near-infrared spectroscopy and with invasive oxygen partial pressure measurement in pigs.

Methods:
Thirty fasciocutaneous flaps based on the superficial epigastric inferior pedicle were harvested and buried under the transcutaneous dorsal muscle (approximately 1 cm thick). An optical probe was placed on the skin above each buried flap. For each pig, two buried flaps were performed, one submitted to arterial occlusion and one to venous occlusion. Oxyhemoglobin and deoxyhemoglobin concentrations were observed for over 40 minutes before clamping, almost 20 minutes during clamping and during a period of release of approximately 20 minutes. Variations in time-resolved near-infrared spectroscopy were compared to the oxygen partial pressure and continuous-wave near-infrared spectroscopy variations.

Results:
All vascular events were detected by the time-resolved near-infrared spectroscopy. During arterial clamping, oxyhemoglobin decreased rapidly, whereas deoxyhemoglobin increased moderately. The divergence of oxyhemoglobin and deoxyhemoglobin curves indicated arterial occlusion. During venous clamping, deoxyhemoglobin increased, whereas oxyhemoglobin increased briefly then remained stable or decreased moderately. The initial increases in the oxyhemoglobin and deoxyhemoglobin curves indicated venous occlusion. Oxygen partial pressure failed to detect vascular events in three cases. Continuous-wave near-infrared spectroscopy could not clearly identify vascular occlusions.

Conclusions:
Thus, the authors demonstrated the relevance of time-resolved near-infrared spectroscopy to buried flap monitoring. Time-resolved near-infrared spectroscopy could differentiate between arterial occlusion and venous occlusion.
Potential of Tissue-Engineered and Artificial Dermis Grafts for Fingertip Reconstruction
Authors: Namgoong Sik , Jung Jae Eun , Han Seung-Kyu , Jeong Seong-Ho , Dhong Eun-Sang 
Published: August 2020

Background:
Management of skin and soft-tissue defects of the fingertips is functionally and aesthetically important, but controversial, especially when bones are exposed. Recent advances in wound healing technology allow the use of cells or biological dermis. The authors studied the clinical efficacy of tissue-engineered dermis grafts and artificial dermis grafts versus immediate reconstructive procedures, such as the reverse digital artery island flap, in treating bone-exposed fingertip defects.

Methods:
One hundred eighty-two patients with bone-exposed fingertip defects treated with tissue-engineered dermis grafts (n = 71), artificial dermis grafts (n = 23), or reverse digital artery island flaps (n = 88) were included in this retrospective cohort study. Surgical time, duration of hospitalization, total cost, success rate, healing time, sensory recovery, range of motion, scar quality, and patient satisfaction were compared.

Results:
No tissue-engineered or artificial dermis graft exhibited graft rejection or failure, whereas there was one partial loss and one total loss after reverse digital artery island flap surgery. Tissue-engineered dermis grafts were superior in scar quality, and artificial dermis grafts had shorter surgical times and lower surgical costs; both groups demonstrated superior results in postoperative range of motion and sensory recovery in two-point discrimination tests and shorter hospitalization, compared with the reverse digital artery island flap group. The reverse digital artery island flap had shorter complete closure time and less postoperative tingling sensation. There were no differences in overall patient satisfaction among the groups.

Conclusions:
Tissue-engineered and artificial dermis grafts may be promising alternatives for fingertip reconstruction. In particular, tissue-engineered dermis grafts may deliver superior functional results, including recovery of sensory discomfort and aesthetic results in terms of scar quality over artificial dermis grafts.

CLINICAL QUESTION/LEVEL OF EVIDENCE:
Therapeutic, III.
Perforator Mapping of the Profunda Artery Perforator Flap: Anatomy and Clinical Experience
Authors: Largo Rene D. , Chu Carrie K. , Chang Edward I. , Liu Jessie , Abu-Ghname Amjed , Wang Hui , Schaverien Mark V. , Mericli Alex F. , Hanasono Matthew M. , Yu Peirong 
Published: August 2020

Background:
Discovering alternatives to workhorse flaps that have more consistent anatomy and lower donor-site morbidity has become a focus of reconstructive surgery research. This study provides a simplified approach to profunda artery perforator flap design and harvest based on reliable anatomical landmarks.

Methods:
A retrospective review was conducted of 70 patients who underwent 83 profunda artery perforator flap reconstructions for postoncologic defects from 2016 to 2018. The authors recorded and analyzed the profunda artery perforator flap sizes and clinical applications, the numbers and locations of the perforators, and the patient outcomes.

Results:
Most of the profunda artery perforator flaps were for head and neck [46 patients (65.7 percent)] and breast [21 patients (30 percent)] reconstructions. Flaps were most commonly based on perforator A (33.7 percent) and perforator B (33.7 percent), followed by perforators B and C combined (18.1 percent). Perforators were located a mean of 7.5 cm (perforator A), 12.7 cm (B), and 17.6 cm (C) distal to the pubic tubercle parallel to the axis between the pubic tubercle and the medial femoral condyle and 7.9 cm (A), 7.3 cm (B), and 6.1 cm (C) posterior from the axis. There was no flap loss. One patient underwent successful salvage surgery after arterial flap thrombosis. Eight patients (9.6 percent) developed superficial wound dehiscence that was managed conservatively.

Conclusions:
Perforator mapping demonstrated consistent anatomical locations of sizeable profunda artery perforators in the inner thigh. Along with its consistent and robust vascular anatomy and minimal donor-site morbidity, the profunda artery perforator flap’s volume and pliability make it a reliable option for soft-tissue reconstruction.

CLINICAL QUESTION/LEVEL OF EVIDENCE:
Therapeutic, IV.