bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report
Authors: Lin Miaoyuan , Sun Xishi , Wu Jun 
Published: August 2024

Background:
Deficiency of natural anticoagulant antithrombin was first reported as a genetic risk factor for venous thromboembolism, antithrombin III (AT III) is encoded by the serpin family C member 1 (SERPINC1) gene, consisting of 432 amino acids, including 3 disulfide bonds and 4 possible glycosylation sites. Studies have shown that hereditary AT deficiency increases the incidence of venous thromboembolism by up to 20 times.

Case presentation:
The case presented a 27-year-old young man with no acquired risk factors and a sudden onset of right lower extremity venous thrombosis and pulmonary embolism. A heterozygous mutation in gene SERPINC1 of c.1154-14G>A was detected in the patient, which is a deleterious mutation resulting in reduced AT III activity and increased risk of thrombotic events. The patient received anticoagulant therapy for approximately 5 months, and the thrombus gradually dissolved and no recurrent thrombotic events occurred during follow-up.

Discussion:
AT deficiency is a rare autosomal dominant genetic disease, they are mainly divided into 2 types according to the different effects on the structure or function of the encoded protein. The patient had a mutation in the SERPINC1 gene (c.1154-14G>A). Several cases of this type of mutation have been reported since 1991, and it is classified as AT deficiency type I.

Conclusion:
Thrombosis in patients with antithrombin deficiency is often unpredictable and can lead to fatal pulmonary embolism. Early genetic testing for hereditary thrombophilia in venous thromboembolism patients without obvious high-risk factors is critical. Long-term anticoagulation treatment is an effective treatment, for this type of type I AT III deficiency combined with pulmonary embolism patients, warfarin is an effective anticoagulant drug.
Hypoxia-related signature to risk stratify patients for the benefit of immune checkpoint inhibitors therapy in head and neck squamous cell carcinoma: An experimental study
Authors: Zhao Yuemei , Yang Zhe , Fu Min , Wu Shuang , Wang Mingyu , Li Jinglong , Wang Zhanqiu , Li Wenfei 
Published: August 2024

Background:
Increasing evidence has shown that hypoxia is a biomarker of tumor proliferation and metastasis. This research aimed to identify a hypoxia-associated gene prognostic index (HAGPI) in head and neck squamous cell carcinoma (HNSCC) and based on HAGPI-defined subgroups to predict prognosis and response to immune checkpoint inhibitors therapy.

Methods:
RNA-sequencing transcriptomic data for patients with HNSCC were downloaded from The Cancer Genome Atlas (TCGA). Protein–protein interaction network analysis was performed to select hypoxia-related hub genes. Univariate and multivariate cox regression analyses were used to identify hub genes to develop the HAGPI. Afterward expression data were imported into CIBERSORT to evaluate the relative proportion of 22 immune cells and compared the relative proportions of immune cells between the 2 HAGPI subgroups. The relationship between immunopheno score (IPS) and HAGPI was validated for immune checkpoint inhibitors (ICIs) response in TCGA cohorts.

Results:
The HAGPI was constructed based on HS3ST1, HK1, PGK1, STC2, SERPINE1, PKLR genes. In high-HAGPI patients, the primary and secondary endpoint events in TCGA and GEO cohorts were significantly lower than low-HAGPI groups (P < .05). HAGPI-high patients exhibited a poorer prognosis than HAGPI-low patients did. The abundance of M2 macrophages and NK cell were significantly enhanced in the high-HAGPI while T cells regulatory and T cells CD8, were markedly elevated in the low-HAGPI. Meanwhile, patients in the low-HAGPI patients had higher levels of immunosuppressant expression and less aggressive phenotypes. Furthermore, IPS analysis showed that the low-HAGPI group with higher IPS represented a more immunogenic phenotype.

Conclusion:
The current study developed and verified a HAPGI model that can be considered as an independent prognostic biomarker and elucidated the tumor immune microenvironment of HNSCC.
Primary breast angiosarcoma: A case report
Authors: Wang Yan , Xie Shengrong , Peng Dawei , Zhou Jin , Hu Shuangye 
Published: August 2024

Rationale:
Primary breast angiosarcoma is a rare tumor, accounting for only 0.05% of all malignant breast tumors. The primary breast angiosarcoma typically presents with nonspecific clinical manifestations, which can easily lead to misdiagnosis. Potential factors contributing to misdiagnosis include skin changes that may be erroneously attributed to breast trauma-induced bruising and breast swelling that may be mistaken for inflammatory diseases or other benign tumors.

Patient concerns:
A 19-year-old female was admitted to the hospital due to repeated lump formation in the left breast for 9 months after left breast trauma.

Diagnoses:
The diagnosis of primary breast angiosarcoma was confirmed on hematoma biopsy.

Interventions:
Due to the patient’s condition, no special treatment was given postoperatively. After then, there was a recurrence in the chest wall, and the patient received 2 cycles of chemotherapy, resulting in a reduction in the size and lightening of the recurrent chest wall mass. When chemotherapy intolerance happened, the patient chose to discontinue treatment.

Outcomes:
After an 18-month follow-up, the recurrent chest wall mass increased and the patient died from bleeding.

Lessons:
Primary breast angiosarcoma has a low incidence but high malignancy, with a high recurrence and metastasis rate, leading to a poor prognosis. The adjuvant chemotherapy, radiotherapy, targeted therapy, and other treatments should be considered to reduce the local recurrence rate and prolong patient survival.
Adrenaline intravenous therapy persistence grade I severe allergic reaction: A case report and literature review
Authors: Wang Wei , Zhang Ying , Tao Li , Jiang Tong-Xue , Wang Ning , Zhai Wen-Hui 
Published: August 2024

Rationale:
At present, there is still insufficient understanding of the progression from persistent allergic reactions to severe reactions. Adrenaline remains the preferred medication for severe allergic reactions, and intramuscular injection of adrenaline can also be considered for patients with grade I reactions that are difficult to alleviate gastrointestinal symptoms. It is worth further discussing whether it is possible to break the conventional intramuscular injection recommended by the guidelines when the effect of intramuscular injection is not ideal for persistent grade I severe allergic reactions.

Patient concerns:
A young male, 20 years of age, was admitted to emergency department because of repeated rash for 3 days and abdominal pain for 6 hours after taking traditional Chinese medicine. After hormone therapy, the rash continued to recur and secondary gastrointestinal symptoms occurred on the 3th day. Adrenaline intramuscular injection was given to temporarily relieve the rash and abdominal pain, but symptoms still persisted.

Diagnosis:
The patient was diagnosed with persistent severe allergic reaction (grade I).

Interventions:
Continuous intravenous infusion of low-dose adrenaline under electrocardiographic monitoring, real-time monitoring of heart rate and blood pressure, and routine treatment with methylprednisolone, diphenhydramine, calcium gluconate, and cetirizine. During this period, adrenaline intramuscular injection is temporarily added when abdominal pain symptoms are obvious. The entire treatment process used a total of 6.8 mg of adrenaline.

Outcomes:
During the entire period of adrenaline intervention, the patient did not experience any new discomfort, and there were no abnormal fluctuations in heart rate, rhythm, or blood pressure. The symptoms of rash and abdominal pain gradually improved.

Lessons:
For patients with persistent grade I severe allergic reactions, intravenous administration of low-dose adrenaline under close vital sign monitoring is safe, feasible, and highly effective in preventing biphasic, persistent, or worsening allergic reactions.
A case report of interstitial pneumonia induced by vedolizumab in a patient with ulcerative colitis
Authors: Liu Ailing , Ye Susu , Diao Zeyuan , Liu Hua , Xu Yonghong , Wu Jun , Mao Tao , Tian Zibin , Ding Xueli 
Published: August 2024

Rationale:
The interstitial pneumonia (IP) linked to vedolizumab (VDZ) in patients with ulcerative colitis (UC) is rare. Prompt diagnosis and treatment can improve patient outcomes.

Patient concerns:
A 39-year-old man with UC who received VDZ as sole therapy developed symptoms such as chest tightness, cough, and suffocation.

Diagnoses:
IP was confirmed through pulmonary function tests, chest computed tomography, and bronchoscopic biopsy.

Interventions:
The patient was given methylprednisolone and VDZ cessation.

Outcomes:
The patient’s symptoms improved and remained symptom-free after nearly 2 years.

Lessons:
VDZ-induced IP should be considered when evaluating pulmonary infections in UC patients treated with VDZ.
Central nervous system nocardiosis in a 54-year-old man with lateral ventricular choroid plexitis and diffused meningitis: A case report
Authors: Yu Qiujian , Dai Shujuan , Pang Ailan 
Published: August 2024

Introduction:
Nocardiosis is an unusual infection caused by aerobic gram-positive bacteria in the genus Nocardia. Infections resulting from Nocardia species are frequent in immunosuppressive patients. Weakened immune systems caused by human immunodeficiency virus infection, diabetes, cancer, and other conditions such as chronic lung disease, renal failure, etc, are the main risk factors for nocardiosis. Central nervous system (CNS) nocardiosis has been reported to represent ~2% of all and to be present in 15% to 50% of patients with systemic infection. The patient in our case had an isolated CNS nocardiosis caused by Nocardia terpenica infection, a rare reclassified Nocardia pathogen of CNS nocardiosis.

Case:
We here present a 54-year-old Chinese male with a fever and headache for 15 days who showed positive meningeal irritation signs. Magnetic resonance imaging showed the right trigone of the lateral ventricular choroid plexitis and diffused leptomeningeal meningitis involving the bilateral cerebral hemisphere, cerebellar hemisphere, and brain stem. The patient was quickly diagnosed with CNS Nocardia infection by next-generation sequencing within 48 hours after admission. Meanwhile, the diagnosis was validated by Nocardia-positive staining in cerebral spinal fluid culturing. The patient was given trimethoprim-sulfamethoxazole, and his symptoms recovered after 3 days.

Conclusions:
In this case, the clinical, radiological, and microbiological findings highlight the importance of suspecting Nocardia as the potential pathogen in patients with central nervous system inflammation of doubted immune incompetence. In addition, next-generation sequencing as an effective test is also highly recommended for suspicious CNS infection patients to perform a rapid diagnosis and treatment.
Poor intraoperative visibility and postoperative astigmatism associated with trabecular micro-bypass stent for corneal dystrophy: A case report
Authors: Nakagawa Suguru , Ishii Kiyoshi 
Published: August 2024

Rationale:
There are reports of safe cataract surgery in eyes with posterior polymorphous corneal dystrophy (PPCD); however, to our knowledge, there are no reports of minimally invasive glaucoma surgery (MIGS) in eyes with PPCD. Herein, we report a case of poor intraoperative visibility with gonioscopy, postoperative corneal edema, and corneal astigmatism in eyes with PPCD treated with trabecular micro-bypass stent combined with cataract surgery.

Patient concerns/Diagnosis:
A 78-year-old man was referred to our hospital for MIGS. He presented with bilateral corneal endothelial vesicular changes and band lesions. Endothelial cell density was 2983/2871 cells/mm2 (right/left eye), central corneal thickness was 581 μm/572 μm, best-corrected visual acuity values (Snellen equivalent) were 20/32 (right) and 20/100 (left), and corneal astigmatism was −2.7D in the right eye and −2.5D in the left eye.

Intervensions/ Outcoms:
After phacoemulsification and aspiration with intraocular lens implantation with a 2.4-mm corneal incision in both eyes, trabecular micro-bypass stents were inserted successfully despite the poor intraoperative visibility with gonioscopy. One week after surgery, the central corneal thickness was 614 μm/609 μm, and Descemet’s membrane folds and mild corneal edema were observed. Best-corrected decimal visual acuity was 20/40 for the right eye and 20/50 for the left eye. In the left eye, total corneal astigmatism increased from −2.5D to −5.5D. Corneal astigmatism and edema showed gradual improvement.

Lessons:
Although reports have shown that cataract surgery can be safely performed in eyes with PPCD, MIGS in eyes with PPCD may require caution regarding intraoperative visibility with gonioscopy and visual function in the early postoperative period.
Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family
Authors: Qian Chen , Yan Jie , Huang Ximei , Wang Zila , Lin Faquan 
Published: August 2024

Background:
This study aims to report the clinical characteristics of a child with autosomal recessive polycystic kidney disease (ARPKD) within a Chinese Zhuang ethnic family.

Methods:
We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease. Candidate pathogenic variants were validated by Sanger sequencing.

Results:
We identified previously unreported mutations in the PKHD1 gene of the proband with ARPKD through WES: a splice site mutation c.6809-2A > T, a nonsense mutation c.4192C > T(p.Gln1398Ter), and a missense mutation c.2181T > G(p.Asn727Lys). Her mother is a heterozygous carrier of c.2181T > G(p.Asn727Lys) mutation. Her father is a carrier of c.6809-2A > T mutation and c.4192C > T(p.Gln1398Ter) mutation.

Conclusions:
The identification of novel mutations in the PKHD1 gene through WES not only expands the spectrum of known variants but also potentially enhances genetic counseling and prenatal diagnostic approaches for families affected by ARPKD.
Rehabilitation after musculoskeletal injury: Israeli and South African perspectives
Authors: Bernstein Brian , Berry Kirsty , Moreh Elior , Schwartz Isabella , Weil Yoram A. , Scott Lindsay , Nyathi Nomalungelo 
Published: August 2024

Abstract
Rehabilitation for patients sustaining isolated and multiple musculoskeletal injuries due to trauma remains a mainstay of recovery. There are a wide variety of systems in place to manage the rehabilitation process. This article describes the post-traumatic rehabilitation procedures from 2 member countries of the International Orthopaedic Trauma Association, Israel and South Africa. The systems are reflective of the clear differences between these 2 countries with vastly different economic strata and health care systems. In Israel, the rehabilitation programs and resources are most likely the result of the mature social support systems and the trauma experience. In South Africa, the programs are reflective of a two-tier health care system, with patients exposed to varying levels of rehabilitation resources.
Biodistribution and Radiation Dosimetry for 68Ga-DOTA-CCK-66, a Novel CCK2R-Targeting Compound for Imaging of Medullary Thyroid Cancer
Authors: Viering Oliver , Rinscheid Andreas , Holzleitner Nadine , Dierks Alexander , Kircher Malte , Wienand Georgine , Patt Marianne , Wester Hans-Jürgen , Bundschuh Ralph A. , Günther Thomas , Lapa Constantin , Pfob Christian H. 
Published: August 2024

Abstract
Cholecystokinin 2 receptor (CCK2R) is a promising target for imaging and treatment of medullary thyroid cancer due to its overexpression in over 90% of tumor cells. 68Ga-DOTA-CCK-66 is a recently introduced PET tracer selective for CCK2R, which has shown favorable pharmacokinetics in vivo in preclinical experiments. In order to further investigate safety and suitability of this tracer in the human setting, whole-body distribution and radiation dosimetry were evaluated.

Patients and Methods
Six patients with a history of medullary thyroid cancer were injected intravenously with 169 ± 19 MBq of 68Ga-DOTA-CCK-66. Whole-body PET/CT scans were acquired at 10 minutes, 1 hour, 2 hours, and 4 hours after tracer injection. Time-activity curves per organ were determined, and mean organ-absorbed doses and effective doses were calculated using OLINDA/EXM.

Results
Injection of a standard activity of 150 MBq of 68Ga-DOTA-CCK-66 results in an effective dose of 4.5 ± 0.9 mSv. The highest absorbed organ doses were observed in the urinary bladder wall (40 mGy) and the stomach (15 mGy), followed by the kidneys (6 mGy), as well as the liver and the spleen (3 mGy each). CCK2R-expressing tumor manifestations could be detected in 2 of the 6 patients, including lymph node, bone, and liver metastases.

Conclusions

68Ga-DOTA-CCK-66 exhibits a favorable dosimetry. Beyond physiologic receptor expression of the stomach, no other relevant tracer accumulation could be observed, rendering this organ at risk in case of subsequent radioligand therapy using 177Lu-DOTA-CCK-66.
Exploring patient and system factors impacting undertriage of injured patients meeting national field triage guideline criteria
Authors: Beiriger Jamison , Puyana Jacob , Deeb Andrew-Paul , Silver David , Lu Liling , Boland Sebastian , Brown Joshua B. 
Published: August 2024

BACKGROUND
Trauma systems save lives by coordinating timely and effective responses to injury. However, trauma system effectiveness varies geographically, with worse outcomes observed in rural settings. Prior data suggest that undertriage may play a role in this disparity. Our aim was to explore potential driving factors for decision making among clinicians for undertriaged trauma patients.

METHODS
We performed a retrospective analysis of the National Emergency Medical Services Information System database among patients who met physiologic or anatomic national field triage guideline criteria for transport to the highest level of trauma center. Undertriage was defined as transport to a non–level I/II trauma center. Multivariable logistic regression was used to determine demographic, injury, and system characteristics associated with undertriage. Undertriaged patients were then categorized into “recognized” and “unrecognized” groups using the documented reason for transport destination to identify underlying factors associated with undertriage.

RESULTS
A total of 36,094 patients were analyzed. Patients in urban areas were more likely to be transported to a destination based on protocol rather than the closest available facility. As expected, patients injured in urban regions were less likely to be undertriaged than their suburban (adjusted odds ratio [aOR], 2.69; 95% confidence interval [95% CI], 2.21–3.31), rural (aOR, 2.71; 95% CI, 2.28–3.21), and wilderness counterparts (aOR, 3.99; 95% CI, 2.93–5.45). The strongest predictor of undertriage was patient/family choice (aOR, 6.29; 5.28–7.50), followed by closest facility (aOR, 5.49; 95% CI, 4.91–6.13) as the reason for hospital selection. Nonurban settings had over twice the odds of recognizing the presence of triage criteria among undertriaged patients (p < 0.05).

CONCLUSION
Patients with injuries in nonurban settings and those with less apparent causes of severe injury are more likely to experience undertriage. By analyzing how prehospital clinicians choose transport destinations, we identified patient and system factors associated with undertriage. Targeting these at-risk demographics and contributing factors may help alleviate regional disparities in undertriage.

LEVEL OF EVIDENCE
Diagnostic; Level IV.
Association of Moderate and Vigorous Physical Activity With Cognitive Performance
Authors: de Pais Ingryd Mayara Nascimento Martins , Rabelo Wendell Lima , Ferreira Naomi Vidal , Ferri Cleusa Pinheiro , Suemoto Claudia Kimie , Gomes Gonçalves Natalia 
Published: August 2024

Objective:
It is estimated that 2% of dementia cases worldwide could be prevented with increases in physical activity. However, there is little evidence of the association between vigorous physical activity (VPA) and cognitive performance. This study aimed to investigate the association of moderate physical activity (MPA) and VPA with cognitive performance in older adults from the Brazilian Longitudinal Study of Aging (ELSI-Brasil).

Patients and Methods:
Data from 7954 participants were analyzed. Mean age was 61.8 ± 9.2 years, 61.8% were women, and 44.3% were mixed races. Cognitive performance evaluated the memory, temporal orientation, and verbal fluency domains. A global composite z-score was derived from the tests. Physical activity was assessed by self-report. We used linear regression models to verify the association of MPA and VPA with cognitive performance.

Results:
Compared with participants who did not meet the guidelines for MPA (<150 min/wk), those who met the guidelines (150 to 299 min/wk) and those who performed more than 2x the recommended amount of MPA (300 min or more/wk) had better global cognitive performance (β = 0.163, 95% CI = 0.086, 0.241; P < 0.001; β = 0.180, 95% CI = 0.107, 0.253, P < 0.001, respectively). We found no association between VPA and cognitive performance.

Conclusion:
There was no additional benefit of VPA for cognitive performance.