bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report
Authors: Ifuku Toshinobu , Suzuki Sayo , Nagatomo Yusaku , Yokoyama Ryohei , Yamamura Yoshiko , Nakatani Keigo 
Published: June 2022

Abstract
Background
22q11.2 deletion syndrome (22qDS) is the most common chromosomal microdeletion syndrome and is associated with a high rate of congenital heart disease (CHD) and neurodevelopmental abnormalities. Congenital portosystemic venous shunts (CPSS) are rare developmental abnormalities of the portal venous system. The clinical manifestations of CPSS are varied, and some patients have CHD or genetic chromosomal abnormalities, but their relationship remains unknown. We report the first case of CPSS associated with 22qDS.

Case presentation
A newborn boy referred to our institution was diagnosed with 22qDS due to characteristic facial features and complications of tetralogy of Fallot. A subsequent newborn screening test indicated hypergalactosemia and high blood levels of ammonia and bile acids. Upon closer examination, these abnormalities were found to be caused by the CPSS. Abdominal contrast-enhanced computed tomography and angiography confirmed that abnormal blood vessels ascended from the splenic vein and short-circuited to the left renal vein. Intracardiac repair for CHD was performed at 1 year of age, followed by transcatheter occlusion of the CPSS using a multilayer device (vascular plug) and detachable coil at 2 years of age. After treatment, the abnormal blood parameters promptly normalized.

Conclusions
As the blood flow of CPSS bypasses the liver, the levels of galactose, bile acids, and ammonia in the systemic veins can increase. Some patients with CPSS have CHD, and these toxic substances may cause liver and lung lesions as well as portosystemic encephalopathy (PSE). Several genetic chromosomal abnormalities, including 22qDS, and CPSS have similar symptoms, and neurodevelopmental abnormalities, particularly those caused by PSE, may be difficult to diagnose. Blood tests, such as newborn screening, and abdominal imaging are useful in the early diagnosis of CPSS.
Diagnosis and management of hypoglossal nerve-derived schwannoma in the floor of mouth: a case series
Authors: Zhong Jiayong , Zhou Zhihang , Hu Yuhua , Zhao Tongchao , Yao Yu , Zhong Laiping , Zhu Dongwang 
Published: June 2022

Abstract
Background
Schwannomas or neurilemmomas are well-encapsulated, benign, solitary, and slow-growing tumors that originate from Schwann cells of the nerve sheath. Extracranial schwannoma is reported to have a relatively high incidence in the tongue while an extremely low incidence in the floor of mouth. In the current study, we presented the first case series of hypoglossal nerve-derived schwannoma in the floor of mouth in Asia.

Methods
A retrospective study of 9 surgical cases of hypoglossal nerve-derived schwannoma in the floor of mouth was performed. The patient and tumor characteristics were evaluated by physical, radiological and pathological examination. Details of operation and complications were also recorded.

Results
Hypoglossal nerve-derived schwannoma in the floor of mouth showed a well-defined boundary with a firm texture, smooth surface and good mobility on palpation. The median maximum diameter of the tumors was 4.3 cm (range 2.8–7.0 cm). The median operative time and bleeding volumes were 89.4 min (range 47–180 min) and 99.2 mL (range 15–200 mL), respectively. All cases received complete surgical excision.

Conclusion
In this study, we presented the diagnosis and management of hypoglossal nerve-derived schwannoma in the floor of mouth for the first time in Asia. The study provided us with a recommendation for consideration of the diagnosis of hypoglossal schwannoma when a patient presents with a mass in the floor of mouth.
Hereditary ovarian cancer risk reduction: a retrospective evaluation of patient perspectives and service provision at a regional hereditary gynaecologic cancer clinic 2006–2016
Authors: Adolph Lauren , Warias Ashley , Stairs Jocelyn , Collins-McNeil Kelly , Penney Lynette , Kieser Katharina 
Published: June 2022

Abstract
Background
Germline pathogenic variants in BRCA1/2 have been established in hereditary breast and ovarian cancer (HBOC) syndrome and result in significantly elevated lifetime risk of ovarian cancer. Risk reduction interventions are presently the only effective means of improving survival and specialized counselling clinics have been established as an effective means of aiding this population in navigating complex decisions surrounding these interventions. This study sought to evaluate patient perceptions of a specialized counselling clinic for patients with HBOC Syndrome and referral patterns to this clinic.

Methods
We completed a retrospective review of 200 patients with HBOC in Nova Scotia, Canada seen through Maritime Medical Genetics Services between 2006 and 2016. Data were collected on referral pattern to the Hereditary Gynaecologic Risk Reduction Clinic (HGRRC), demographics, health history, and uptake of risk-reducing interventions. Participants were invited to complete a questionnaire about their experience.

Results
156/200(78%) women were referred to HGRCC and 135/156 (85.9%) of those referred attended their appointment. 124/200 (62%) were over age 40 at the time of testing. The mean time from referral to HGRCC appointment was 134.68 days (SD 85.78). 85/135 (63%) underwent risk-reducing bilateral salpingo-oophorectomy following their HGRCC appointment. The questionnaire was completed by 94/188 (50.3%) women. Most participants found information received from genetics clinics (81/94; 91%) and genetic counsellors (87/94; 95%) most helpful in making choices around risk-reduction strategies. 83/94 (88%) participants felt they had sufficient information to make an informed decision.

Conclusion
The majority of women with HBOC in Nova Scotia during the study period were referred to and counselled through HGRRC. Genetic counselling was found most valuable in risk-reduction decision making, which highlights the importance of a multidisciplinary team. Patients viewed this clinic as an effective care model to support informed choice about risk-reducing intervention.
Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report
Authors: Lv Haiyan , Jiang Hantao , Zhang Minge , Luo Huarong , Hong Zhenghua , Yang Hai , Xu Weiming , Shen Bo , Zhang Wei , Qiu Hao , Zhu Rangteng 
Published: June 2022

Abstract
Background
Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment.

Case presentation
We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1–2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA.

Conclusions
This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.
Clinical analysis of extralobar pulmonary sequestration with torsion in children: report of 6 cases
Authors: Ti Yunxing , Wang Yuanxiang , Huang Junrong , Zheng Fengnan , Zhang Qing 
Published: June 2022

Abstract
Background
Extralobar pulmonary sequestration is an uncommon congenital pulmonary malformation. Clinically, pedicle torsion of extralobar pulmonary sequestration is extremely rare. Due to inadequate awareness of its atypical presentation and imaging characteristics, clinical diagnosis is very difficult, and it is extremely easy to misdiagnose.

Case presentation
There were 6 children (3 males and 3 females), aged 3–12 years old. The main clinical symptoms of the children were abdominal and chest pain (3 cases), abdominal pain (1 case), chest pain (1 case), and vomiting and abdominal distension (1 case). Two cases were accompanied by fever. Preoperative ultrasound revealed a well-bordered mass with soft-tissue density, accompanied by pleural effusion. On contrast-enhanced computed tomography scans, the mass showed no obvious enhancement. A blood supply was only present in 1 case, and there was no feeding artery shown in the other 5 cases. Extralobar pulmonary sequestration with haemorrhagic infarction was pathologically confirmed. On postoperative days 2–6, the children were discharged uneventfully. There were no complications during the median follow-up of 4 months.

Conclusions
Torsed extralobar pulmonary sequestration usually occurs in childhood or adolescence, with abdominal and/or chest pain as the primary symptoms. Imaging examination shows a well-defined soft-tissue mass without enhancement. The feeding vessel is not clearly displayed in the mass, and extralobar pulmonary sequestration is accompanied by varying amounts of pleural effusion. Video-assisted thoracoscopic surgical resection is associated with excellent prognosis.
Safety and effectiveness of mepolizumab therapy in remission induction therapy for eosinophilic granulomatosis with polyangiitis: a retrospective study
Authors: Ueno Masanobu , Miyagawa Ippei , Aritomi Takafumi , Kimura Koichi , Iwata Shigeru , Hanami Kentaro , Fukuyo Syunsuke , Kubo Satoshi , Miyazaki Yusuke , Nakayamada Shingo , Tanaka Yoshiya 
Published: June 2022

Abstract
Objectives
To investigate the safety and effectiveness of mepolizumab (MPZ), an anti-interleukin-5 antibody, as remission induction therapy for severe eosinophilic granulomatosis with polyangiitis (EGPA).

Methods
The clinical courses of patients with severe EGPA over 6 months were retrospectively investigated and compared between patients treated with high-dose corticosteroid (CS) plus MPZ therapy (MPZ group, n = 7) and those treated with high-dose CS plus intravenous cyclophosphamide (IVCY) pulse therapy (IVCY group, n = 13). The primary endpoints were the MPZ retention rate and the IVCY completion rate. The secondary endpoints were adverse events and changes in the Birmingham Vasculitis Activity Score (BVAS), Vascular Damage Index (VDI), eosinophil counts, and concomitant CS doses, and the extent and rates of these changes were compared between the MPZ and IVCY groups.

Results
Regarding the primary endpoints, the MPZ retention rate was 100%, and the IVCY completion rate was 61.5%. Regarding the secondary endpoints, adverse events were detected in 2/7 patients (28.6%) in the MPZ group and 7/13 patients (53.8%) in the IVCY group. BVAS and eosinophil counts significantly decreased in both groups at and after month 1, but there was no significant difference in the magnitude of changes between the two groups. VDI scores did not significantly increase in either group, and the degree of changes did not significantly differ between the two groups. Although concomitant CS doses significantly decreased at and after month 1 in both groups, the rates of decrease in CS doses at and after month 3 were significantly higher in the MPZ group.

Conclusions
This study suggested that the use of MPZ as remission induction therapy for severe EGPA might be safe and effective for controlling disease activity and reducing CS doses.
Intraoperative radiation therapy for locally advanced and recurrent head and neck cancer.
Authors: Chiodo Celina , Gros Sébastien , Lee Brian , Block Alec Michael , Emami Bahman , Small William , Refaat Abdelrhman Tamer 
Published: June 2022

6058 Background: Intraoperative Radiation Therapy (IORT) allows precise delivery of radiation therapy (RT) to a limited target area at high risk of cancer recurrence while minimizing RT to nearby organs at risk. IORT may be particularly beneficial for patients with locally recurrent head and neck cancer (HNC) in a previously irradiated field and for locally advanced HNC cases, in which obtaining negative surgical margins may be difficult. This study aims to present a single institution experience with IORT for HNC patients. Methods: This study included HNC patients treated consecutively with IORT at our institution between 2014 and 2018. Charts were reviewed for patients’ and tumors’ characteristics, IORT technical details, IORT-induced adverse events, and treatment outcomes. Results: The study included 23 eligible patients. Median patient age was 66 (range 33-91). Tumor sites included parotid gland (43%), lymph nodes (43%), oral tongue (9%), and ear (4%). 52% of patients received IORT upfront with or without postoperative adjuvant external beam radiation therapy (EBRT), while 48% received salvage IORT after local tumor recurrence. The median prescribed IORT dose was 7.5 Gy (range 5-14 Gy) in a single fraction prescribed to 5 mm depth with Flat applicators (median diameter of 5 cm). 92% of patients did not experience wound healing complications. One patient (4%) developed postoperative acute thromboembolic stroke, a second patient (4%) experienced protracted wound healing. At a median follow-up of 36 months (range 2-81), 42% of patients presented with no evidence of disease (NED), overall survival was 54%, 13% of patients were alive with disease, and 46% died with disease. Local-regional recurrence rate was 39% (median time to local recurrence was 18 months, range 2-60), rate of distant metastasis was 43% (median time to distant metastasis was 23 months, range 5-60), and 30% of patients had both local-regional recurrence and distant metastases. The percent of local-regional recurrence and distant metastases among patients receiving salvage IORT was 64% and 73% respectively, compared to 23%, and 15% respectively in those receiving upfront IORT with or without adjuvant EBRT. Conclusions: In this single institution chart review study, IORT to locally advanced and recurrent HN cancer patients was a safe treatment modality, with tumor control comparable to historical EBRT data. Larger prospective studies are needed to further assess the utility of IORT in the management of locally advanced and recurrent HN cancer.
Camrelizumab plus apatinib as induction therapy for locally advanced head and neck squamous cell carcinoma (IMplus): A single-arm phase II study.
Authors: Ye Lulu , Zhang Lin , Li Rongrong , Dou Shengjin , Jiang Wen , Zhu Guopei 
Published: June 2022

6060 Background: Immune checkpoint inhibitor combined with antiangiogenic agent has been investigated in many solid tumors, including advanced head and neck squamous cell carcinoma (HNSCC; NCT02501096), but the evidence is limited. This study was conducted to investigate the efficacy and safety of anti-programmed cell death-1 antibody camrelizumab plus antiangiogenic agent apatinib as induction therapy in patients with locally advanced HNSCC. Methods: In this single-center phase II trial (NCT04440917), patients with untreated locally advanced HNSCC who had inoperable lesions, could not tolerate surgery, or refused surgery were enrolled. Patients received camrelizumab 200 mg once every 2 weeks and apatinib 250 mg once daily for two 28-day cycles, followed by local treatment based on the re-examination results. The primary endpoint was objective response rate (ORR) after induction therapy, as assessed according to the Response Evaluation Criteria In Solid Tumors version 1.1. Simon’s two-stage design was adopted for this study. Results: Between December 2019 and July 2021, 18 patients were enrolled in the first stage. Eight (44%) patients had oropharyngeal carcinoma, nine (50%) had oral carcinoma, and one (6%) had hypopharyngeal carcinoma. There were six (33%), three (17%), and nine (50%) patients with stage III, IVA, and IVB disease, respectively. After induction therapy, six patients achieved complete response, nine achieved partial response, and three had stable disease, with an ORR of 83%. The study proceeded to the second stage and the enrollment for another 14 patients is ongoing. Two (11%) patients with partial response received surgery and adjuvant radiotherapy, and 16 (89%) received radical radiotherapy. With a median follow-up duration of 18 months (range, 9-26), only one disease recurrence and no deaths occurred. The most common adverse events during induction therapy were hypertension (ten [56%]), oral pain (nine [50%]), and increased aspartate aminotransferase (five [28%]). Only one [6%] grade 3 hypertension and one [6%] grade 3 proteinuria were observed, and no grade 4 or 5 adverse events occurred. Conclusions: Camrelizumab plus apatinib showed promising antitumor activity as induction therapy in patients with locally advanced HNSCC, with acceptable safety profile. Clinical trial information: NCT04440917.
Impact of intensive multimodal treatment on the outcomes of patients with anaplastic thyroid cancer.
Authors: Baidoun Firas , Abdel-Rahman Omar 
Published: June 2022

6082 Background: Anaplastic thyroid cancer (ATC) is a rare and aggressive type of thyroid malignancy with very poor prognosis and outcome despite therapy. The rarity of this disease and the poor functional status of ATC patients limit the ability to conduct clinical trials, thus there is a lack of large, controlled trials to guide treatment and evaluate the benefit of combined modality therapy. Methods: The National Cancer Database (NCDB) was queried for patients diagnosed with ATC at age 18 or older between 2004 and 2018. After excluding patients with unknown number of treatment modalities, Charlson-Deyo score of 3 or more and patients lost follow-up, we split the cohort into three groups according to the number of treatment modalities they received. Treatment modalities include surgery, radiation, and systemic therapy. Then, we evaluated the overall survival (OS) between the three groups. We studied the OS using Kaplan-Meier estimates and multivariate cox regression analyses to evaluate factors associated with OS. Additionally, propensity score matching (accounting for age, gender, race, Charlson-Deyo score, and clinical M stage) was used for more robust results. Results: A total of 3,460 patients with ATC were included in the analysis, of which 1,472 (42.5%) either received one type of therapy or did not receive any therapy (group1), 1,092 (31.6%) received bimodal therapy (group 2), and 896 (25.9%) received trimodal therapy (group 3). We found that group 3 had better OS compared to group 1 and group 2 (median OS 9.1 months vs 1.7 months and 4.9 months, respectively with P < 0.001 for all). Propensity score matching yielded 896 patients in each group. We found that group 3 had better OS compared to group 1 and group 2 (median OS 9.1 months vs 1.9 months and 5.2 months, respectively with P < 0.001 for all). Same trend was found in subgroup analysis when we split the cohort according to the metastatic status; in M0 group (median OS was 10.4 months vs 1.9 months and 6.1 months, respectively with P < 0.001 for all), in M1 group (median OS was 5.9 months vs 1.4 months and 3.7 months, respectively with P < 0.001 for all). On multivariate analysis, group 1 and group 2 were associated with worse OS compared to trimodal treatment (HR 2.721; 95% CI: 2.466 - 3.002 and HR 1.434; 95% CI: 1.299 - 1.582, P < 0.001 for all). Conclusions: Patients with ATC who were treated with intensive trimodal therapy had statistically significant improvement in OS compared to patients who received less intense therapy. This survival benefit was observed in both metastatic and non-metastatic groups. While we acknowledge the limitations of this retrospective analysis, our results showed the critical role of intensive therapy approach in this aggressive malignancy.
Efficacy and safety of selpercatinib in RET-altered tumors: A systematic review and meta-analysis.
Authors: Choudhry Mina , Khan Iman Waheed , Ali Mukarram Jamat Jamat , Dad Ullah Mati Ullah , Anwar Muhammad Yasir , Ali Muhammad Ashar , Aiman Wajeeha 
Published: June 2022

6091 Background: RET proto-oncogene encodes receptor tyrosine kinase. Selpercatinib was the first RET-specific tyrosine kinase inhibitor approved by FDA in RET-altered tumors (pralsetinib was approved afterward). This systematic review and meta-analysis will assess the efficacy and safety of selpercatinib in RET-altered tumors. Methods: A search was performed on PubMed, Embase, Cochrane, WOS, and clinicaltrials.gov. We used the following mesh and Emtree terms, “selpercatinib” AND “proto oncogene proteins c ret,” from the inception of literature till 10/15/2021. We screened 187 articles and included 2 phase I/II clinical trials (N = 309) in this meta-analysis. We excluded preclinical trials, case reports, case series, review articles, observational studies, meta-analysis, and clinical trials not providing any information about the efficacy of selpercatinib in RET-altered tumors. The quantitative analysis was performed using the R programming language. Results: In 2 clinical studies (N = 309), 144 patients had RET-altered advanced non-small cell lung cancer (NSCLC) and 162 had thyroid cancer. RET mutations were reported in 143 patients and RET-fusion in 163 tumors. 179 patients were previously treated with systemic therapy while 127 patients were treatment naïve. Pooled overall response (OR), complete response (CR), partial response (PR), progressive disease (PD), and stable disease (SD) were 72% (95% CI = 0.64-0.78, I2= 40%), 6% (95% CI = 0.03-0.13, I2= 49%), 66% (95% CI = 0.57-0.74, I2= 50%), 3% (95% CI = 0.01-0.06, I2= 0), and 24% (95% CI = 0.18-0.30, I2= 22%), respectively, in RET-altered thyroid/NSCLC patients. Pooled OR was 67% (95% CI = 0.60-0.73, I2= 0), 78% (95% CI = 0.64-0.87, I2= 51%), 75% (95% CI = 0.58-0.87, I2= 68%), and 71% (95% CI = 0.63-0.78, I2= 0%) in previously treated, treatment naïve, RET-fusion tumor, and RET-mutation tumor patients, respectively. Pooled incidence of ≥grade 3 any adverse event, rise in ALT, rise in AST, diarrhea, hypertension, and QT abnormalities were reported in 58% (95% CI = 0.43-0.72, I2= 85%), 10% (95% CI = 0.08-0.14, I2= 0), 11% (95% CI = 0.07-0.15, I2= 17), 5% (95% CI = 0.03-0.08, I2= 0), 17% (95% CI = 0.11-0.26, I2= 62%), and 4% (95% CI = 0.02-0.07, I2= 18%) of the participants, respectively. Conclusions: Selpercatinib was safe and effective in patients with RET-altered NSCLC and thyroid cancer regardless of prior treatment status and type of RET alteration. On indirect comparison, the safety profile with selpercatinib was better than previously used non-specific RET-inhibitors. Randomized clinical trials (RCTs) NCT04211337 and NCT04194944 are in progress to compare selpercatinib with non-specific RET inhibitors and chemotherapy/PD-1 inhibitor. More RCTs are needed to assess the combinations of selpercatinib with other drugs.