bluuebunny/crossref_metadata_2025 huggingface dataset:
Pan-cancer analysis reveals the characteristics and roles of tooth agenesis mutant genes
Authors: Liu Yating , Yang Jie , Li Xinyu , Chen Shanshan , Zhu Changyu , Shi Yijun , Dang Shoutao , Zhang Weitao , Li Wei
Published: December 2023

Tooth development is regulated by numerous genes and signaling pathways. Some studies suggest that mutations in these genes may be associated with several cancer types. However, the tooth agenesis mutated genes role in the prognosis and their clinical therapeutic potentials in pan-cancer have not been elaborately explored. Moreover, the intrinsic correlation between tooth agenesis and cancers also needs to be further verified. We preliminarily analyzed expression levels and prognostic values of causative genes of tooth agenesis, and explored the correlation between the expression of tooth agenesis mutated genes and TME, Stemness score, clinical characteristic, immune subtype, and drug sensitivity in pan-cancer, which based on updated public databases and integrated some bioinformatics analysis methods. In addition, we conducted the enrichment analysis of tooth agenesis mutant genes from KOBAS database. We observed that TA mutant genes had significant gene expression differences in multiple cancer types compared with normal tissues. The expression of causative genes of TA is associated with the prognosis in several cancers from different databases. For example, AXIN2 and MSX1 were correlated to the overall survival (OS) of uterine corpus endometrial carcinoma. PAX9 and TP63 were related to OS of lung squamous cell carcinoma. And TP63 was associated with OS in breast invasive carcinoma and pancreatic adenocarcinoma. Furthermore, the expression of TA mutant genes also has a significant correlation with stromal and immune scores, and RNA stemness score and DNA stemness score in pan-cancer. Besides, we observed that all causative genes of TA were significantly correlated with immune subtypes. Moreover, KEGG pathway analysis showed that causative genes of TA were associated with the development and progression of breast cancer, basal cell carcinoma, gastric cancer, and hepatocellular carcinoma. Finally, AXIN2 expression has a significantly positive or negative correlation with drug sensitivity. Our study indicates the great potential of TA mutant genes as biomarkers for prognosis and provides valuable strategies for further investigation of TA mutant genes as potential therapeutic targets in cancers. Our study can further verify that there may be an intrinsic correlation between tooth agenesis and the occurrence of multiple cancers.
Perioperative care of nipple-areola complex-sparing mastectomy and one-stage breast reconstruction via endoscopic axillary approach for ductal carcinoma in situ: A case report
Authors: Zhang Li-Xia , Zhang Li , Jiang Li-Li , MI Hui , Lingling Dong
Published: December 2023

Rationale:

Breast cancer represents a prevalent malignancy that primarily impacts women, with pronounced consequences on their overarching health. The major therapeutic approach, encompassing surgical procedures, can often culminate in mastectomy, potentially inciting psychological turmoil and disorders.

Patient concerns:

A patient was admitted to our facility on May 5, 2023, precipitated by the discovery of bilateral breast masses during a routine physical examination conducted 3 days before admission.

Diagnosis:

The breasts were symmetric, with the right nipple inverted and a palpable mass in the upper outer quadrant of the right breast, measuring approximately 5 cm × 4 cm. The mass was firm with indistinct borders, relatively regular morphology, poor mobility, and no tenderness. Outpatient color Doppler ultrasound revealed heterogeneous echogenicity in the right breast, classified as Breast Imaging Reporting and Data System (BI-RADS) category 0, along with multiple ductal dilatations. The left breast exhibited a hypoechoic area (BI-RADS 3), indicative of proliferative changes. Radiographic mammography confirmed diffuse changes in the right breast (BI-RADS 0) and proliferative signs in the left breast (BI-RADS 2). Biopsy results reveal significant atypical ductal hyperplasia consistent with intermediate-grade ductal carcinoma in situ. This patient was diagnosed as ductal carcinoma in situ of the right breast (cTisN0M0 and Stage 0), accompanied by a left breast mass.

Interventions:

On May 15, 2023, the patient was readmitted for further surgical intervention. Following relevant auxiliary examinations, the patient underwent nipple-areola complex-sparing radical mastectomy for the right breast, sentinel lymph node biopsy in the right axillary area, prosthesis-based breast reconstruction for the right breast, and microrotatotomy of the left breast mass on the left side on May 17.

Outcomes:

The patient made a successful recovery under scrupulous perioperative supervision and was discharged 7 days post-surgery.

Lessons:

The axillary approach for endoscopic mammary gland excision and immediate implant reconstruction permits patients to preserve the esthetics of the female form while undergoing conventional medical treatment. This methodology considerably enhances the psychophysical health of the patients, thereby marking it as an advantageous practice worthy of broad dissemination in the medical community.
A case of brain arteriovenous malformation treated by high-pressure cooker technique assisted with anhydrous alcohol embolization: A case report
Authors: Zhang Cui , Wang Qingbo , Li Chenglong , Li Zefu
Published: December 2023

Rationale:

Brain arteriovenous malformations (BAVMs) are a relatively rare but very dangerous developmental abnormality of the blood vessels. Intracranial hemorrhage is the most common clinical manifestation of BAVMs, and has a high rate of rebleeding, disability, and mortality, which has a serious impact on patients’ quality of life and working ability. Endovascular intervention was a new technique that emerged in recent years. Anhydrous ethanol embolization has been used with satisfactory results in the treatment of peripheral arteriovenous malformations, but there is a lack of practice in the treatment of BAVMs. We tried to treat BAVMs by embolizing malformed vessels with anhydrous alcohol in order to provide a safe and effective treatment for more patients with BAVMs.

Patient concerns:

The patient was admitted to our hospital in the emergency department with “sudden onset of headache for more than 4 hours.” At the time of admission, the patient was clearly conscious, not mentally alert, spoke fluently, and had a normal level of orientations. The direct and indirect responses to light were blunted. The patient’s muscle strength, muscle tone, and sensation of the extremities were normal. National Institute of Health stroke scale score was 1. Head computed tomography at the onset suggested a right occipital hemorrhage and hematoma formation.

Diagnoses:

Brain arteriovenous malformations (BAVMs) were suspected based on preoperative imaging findings.

Interventions:

After obtaining the consent of the patient and their family members, we performed whole brain angiography to determine the location of the lesion, and then, with the help of high-pressure cooker technology, targeted embolization of interventional BAVM was performed. The high-pressure cooker technology was achieved through spring coils, and the embolic material was anhydrous ethanol.

Outcomes:

The surgery was successful, and the patient recovered well without recurrence.

Lesson:

The successful performance of this surgery illustrates the feasibility of anhydrous ethanol-targeted ablation for BAVMs.
Patients’ perception towards digital health services in Saudi Arabia: A cross-sectional study
Authors: Mohamed Amal. H. , Ghonim Manar , Somaili Mohammed , Abdelmola Amani , Haqawi Ibrahim Yahya Ali , Shmakhi Yasser Mohammed Nasser , Refaei Basmah Adel Ibrahim , Refaei Eman Adel Ibrahim , Aburasain Amani Baker , Harbi Maram Hafiz Ali , Harbi Reem Hafiz Ali , Albasheer Osama
Published: December 2023

The COVID-19 pandemic has highlighted the importance of the widespread use of digital health services (DHS). Despite evidence of the benefits of DHS, there are many barriers to their adaptation worldwide. This study aimed to measure the effectiveness of DHS from the patient perspective. A cross-sectional study was conducted in the Jazan region of Saudi Arabia from December 2022 to March 2023. Of the 323 participants who completed the online questionnaire, 63.5% were female, and 55.4% of participants found that DHS was satisfactory. 34% of the participants preferred DHS via telephone calls and 40.2% found that DHS was comparable to direct regular services in building trust between patients and doctors. A total of 79.2% agreed that DHS could reduce unnecessary outpatient visits and 70.9% agreed that it could be used effectively to follow patients with chronic diseases. DHS was found to be cost-effective in 76.8%. Digital healthcare has the potential to significantly improve health care outcomes and effectiveness in Saudi Arabia. Therefore, the use of a DHS for monitoring and dispensing care would be advantageous. However, difficulties such as lack of time or a packed schedule have prevented patients in Saudi Arabia from using telemedicine.
Refractory hypotension and coronary artery spasm induced by antipsychotic drugs: A challenging case and treatment consideration: A case report and literature review
Authors: Song Kang , Ji Yang , Zhao Kun , Han Xiaorong , Jian Chuanmin , Liu Song
Published: December 2023

Rationale:

Coronary artery spasms may result from supply–demand mismatch due to hypotension. Norepinephrine is more effective in ameliorating antipsychotic-induced refractory hypotension.

Patient concerns:

Postoperative difficult-to-correct hypoperfusion occurs in patients with comorbid depression and coronary spasm; the use of norepinephrine and epinephrine for rapidly raising blood pressure needs to be considered.

Diagnoses:

Electrocardiogram is an auxiliary tool and Digital Substraction Angiography is the gold standard for the diagnosis.

Interventions:

Surgery and correct choice of raising blood pressure are the main treatment methods.

Outcomes:

Hypotension induced by the use of antipsychotics after angiography is difficult to correct with dobutamine, and the above scenario is relatively rare in the clinic, where norepinephrine could be a potential therapeutic option.

Lessons:

Based on the lessons learnt from this case, caution must be exercised when dealing with patients on multiple antipsychotics during the perioperative period, while pressor-boosting medications should not be limited to conventional drugs such as dopamine. Norepinephrine may be more effective in dealing with difficult-to-correct hypoperfusion.
Mechanism of Valeriana Jatamansi Jones for the treatment of spinal cord injury based on network pharmacology and molecular docking
Authors: Wang Yunyun , Lu Jiachun , Xiao Hua , Ding Lijuan , He Yongzhi , Chang Cong , Wang Wenchun
Published: December 2023

Spinal cord injury (SCI) is characterized by high rates of disability and death. Valeriana jatamansi Jones (VJJ), a Chinese herbal medicine, has been identified to improve motor function recovery in rats with SCI. The study aimed to analyze the potential molecular mechanisms of action of VJJ in the treatment of SCI. The main ingredients of VJJ were obtained from the literature and the SwissADME platform was used to screen the active ingredients. The Swiss TargetPrediction platform was used to predict the targets of VJJ, and the targets of SCI were obtained from the GeneCards and OMIM databases. The intersecting genes were considered potential targets of VJJ in SCI. The protein–protein interaction network was constructed using the STRING database and the hub genes of VJJ for SCI treatment were screened according to their degree values. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes enrichment analyses were performed using the Metascape database. Cytoscape software was used to construct the “herb-ingredient-target-pathway” network. Preliminary validation was performed using molecular docking via Auto Dock Vina software. A total of 56 active ingredients of VJJ, mainly iridoids, were identified. There were 1493 GO items (P < .01) and 173 signaling pathways (P < .01) obtained from GO and Kyoto Encyclopedia of Genes and Genomes enrichment, including the phosphoinositide-3-kinase (PI3K)–protein kinase B (Akt) signaling pathway, hypoxia-inducible factor 1 signaling pathway, and tumor necrosis factor signaling pathway. Molecular docking revealed that 12 hub genes enriched in the PI3K/Akt signaling pathway had a high binding affinity for the active ingredient of VJJ. VJJ may exert its therapeutic effects on SCI through the iridoid fraction, acting on signal transducer and activator of transcription 3, CASP3, AKT1, tumor necrosis factor, mammalian target of rapamycin, interleukin 6, and other hub genes, which may be related to the PI3K/Akt signaling pathway.
Emergency medicine education via the micro-course and flipped classroom-reform of medical education during the COVID-19 pandemic
Authors: Yang Cui , Zhou Zheng-Wu , Jin Long , Jiang Lu , Han Sheng-Jin
Published: December 2023

The “micro-course” and “flipped classroom” are emerging tools for medical education but little is known about their utility for emergency medicine teaching. The suitability of the micro-course combined with flipped classroom is investigated for delivery of an emergency medicine course in West Anhui Health Vocational College. Students from Class A and Class B of the Clinical Department of West Anhui Health Vocational College, Grade 2000, were assigned to experimental (micro-course plus flipped classroom, n = 102) and control (traditional, didactic teaching, n = 104) groups, respectively. The effectiveness of teaching was assessed by theoretical tests and questionnaires at the end of the course. Theory test results were significantly better for the experimental group than for controls (t = 3.122, P < .01). General satisfaction of students who had participated in the micro-course plus flipped classroom exceeded that of those who had received traditional teaching. Enthusiasm, efficiency, and learning facility was self-reported to be enhanced by students in the experimental group relative to controls. Use of the micro-course combined with flipped classroom successfully increased the outcome of emergency medicine teaching and may be considered as an approach to reform emergency medicine teaching in medical colleges and universities.
MMP-3 gene regulates the carcinogenesis and metabolic process of ovarian cancer, evidence from a Chinese population: Observational study and meta-analysis
Authors: Wang Lei , Yao Yanping , Si Dan
Published: December 2023

The current investigation aims to explore the relationship between matrix metalloproteinase-3 (MMP-3) gene polymorphism and ovarian cancer (OC) risk. Two hundred forty pathologically confirmed OC patients and 390 healthy controls participated in the present investigation. Polymerase chain reaction-restriction fragment length polymorphism was applied to investigate the present polymorphism. At the same time, the meta-analysis was also performed to comprehensively explore the relationship. Three genotypes (5A/5A, 5A/6A, and 6A/6A) were observed for MMP-3 gene polymorphism. 6A/6A genotype and 6A allele displayed significant increase in OC patients (all P < .05). Meta-analysis found that no significant results (all P > .05). In conclusion, our results indicate that MMP-3 gene polymorphism contributes increased risk to OC for southern Chinese population. And meta-analysis indicates that MMP-3 gene polymorphism contributes no risk to OC in other populations.
Research trends and hotspots in exercise rehabilitation for coronary heart disease: A bibliometric analysis
Authors: Wen Qing , Ma Qun-Hua , Li Lin-Zhang , Song Xue-Wu , Han Hu-Kui , Huang Gui-Yu , Tang Xiao-Li
Published: December 2023

Exercise rehabilitation can improve the prognosis of patients with coronary heart disease. However, a bibliometric analysis of the global exercise rehabilitation for coronary heart disease (CHD) research topic is lacking. This study investigated the development trends and research hotspots in the field of coronary heart disease and exercise rehabilitation. CiteSpace software was used to analyze the literature on exercise therapy for CHD in the Web of Science Core Collection database. We analyzed the data of countries/institutions, journals, authors, keywords, and cited references. A total of 3485 peer-reviewed papers were found, and the number of publications on the topic has steadily increased. The most productive country is the USA (1125), followed by China (477) and England (399). The top 3 active academic institutions are Research Libraries UK (RLUK) (236), Harvard University (152), and the University of California System (118). The most commonly cited journals are Circulation (2596), The most commonly cited references are “Exercise-based cardiac rehabilitation for coronary heart disease” (75), Lavie CJ had published the most papers (48). World Health Organization was the most influential author (334 citations). The research frontier trends in this field are body composition, participation, and function. Research on the effects of physical activity or exercise on patients with CHD is a focus of continuous exploration in this field. This study provides a new scientific perspective for exercise rehabilitation and CHD research and gives researchers valuable information for detecting the current research status, hotspots, and emerging trends for further research.
Secondary hyperparathyroidism combined with thyroid disease
Authors: Zhao Bingxin , Chen Simei , Dai Xinpeng , Gao Feng , Xie Peng , Wang Shuchang , Sui Xin
Published: December 2023

To retrospectively analyze the diagnosis and treatment of secondary hyperparathyroidism (SHPT) combined with thyroid disease, and to investigate the correlation between SHPT and papillary thyroid carcinoma (PTC), SHPT and thyroid disease, and the importance of preoperative localization diagnosis in patients with SHPT. Clinical data of 101 patients who underwent surgical treatment for SHPT at the Third Hospital of Hebei Medical University were collected from August 2014 to May 2023, and patients were divided into SHPT without PTC group (n = 94) and SHPT with PTC group (n = 7) according to their postoperative pathology. Patients were divided into SHPT without thyroid disease group (n = 32) and SHPT with thyroid disease group (n = 69) according to their preoperative ultrasound diagnosis and postoperative pathology. The differences between the 2 groups were compared to explore the association between SHPT and PTC and between SHPT and thyroid disease. Of the 101 patients with SHPT, 65 were male and 36 were female with a mean age of (44.26 ± 11.16) years. There were 69 patients (68.32%) with concomitant thyroid disease and 32 patients (31.68%) without concomitant thyroid disease, including 7 patients (6.93%) with PTC. The results of univariate analysis showed that the differences in age and preoperative PTH levels between the SHPT without PTC group and the SHPT with PTC group were statistically significant (P < 0. 05),There were no significant differences in age, gender, preoperative PTH, preoperative alkaline phosphatase, preoperative serum calcium, preoperative serum phosphorus, preoperative serum creatinine, duration of dialysis disease, and whether they were accompanied by hypertension or not between the SHPT without thyroid disease group and the SHPT with thyroid disease group (P > 0. 05), logistic regression analysis showed that there was a correlation between the age of patients with SHPT and the level of preoperative PTH with PTC. In patients with SHPT, concomitant thyroid disease is more common, so patients with SHPT should be screened for thyroid disease at the same time as routine preoperative ultrasonography combined with nuclear scan for localized diagnosis, and surgical resection is preferred if concomitant PTC is present.
Crossmatch assays in transplantation: Physical or virtual?: A review
Authors: Rocha Yermis , Jaramillo Andrés , Neumann Jorge , Hacke Katrin , Palou Eduard , Torres Juan
Published: December 2023

The value of the crossmatch test in assessing pretransplant immunological risk is vital for clinical decisions, ranging from the indication of the transplant to the guidance of induction protocols and treatment with immunosuppressants. The crossmatch tests in transplantation can be physical or virtual, each with its advantages and limitations. Currently, the virtual crossmatch stands out for its sensitivity and specificity compared to the physical tests. Additionally, the virtual crossmatch can be performed in less time, allowing for a reduction in cold ischemia time. It shows a good correlation with the results of physical tests and does not negatively impact graft survival.

Proper communication between clinicians and the transplant immunology laboratory will lead to a deeper understanding of each patient’s immunological profile, better donor–recipient selection, and improved graft survival.
A patient with Owren disease requires pancreatic surgery: A case report
Authors: Jun Yang , Ming Qiu , Nai-Wen Luo , Lei Cao , Yu-Dong Fan , Shu-Guang Wang , Yao Wang
Published: December 2023

Rationale:

Coagulation factor V deficiency is rare, and perioperative management of patients with this condition is particularly important, especially during major abdominal surgery. We present a case of a patient with pancreatic duct stones combined with coagulation factor V deficiency. We share our perioperative management experience.

Patient concerns:

A 31-year-old man presented with recurrent upper abdominal pain for 2 years.

Diagnoses:

The diagnosis of pancreatic duct stones in the patient has been established through abdominal computed tomography and magnetic resonance imaging examinations. The diagnosis of factor V deficiency was initially identified through coagulation function tests, revealing significant prolongation of both aPTT and PT. Subsequent testing of coagulation factors and inhibitors demonstrated that the patient has a deficiency in coagulation factor V. Finally, genetic testing revealed that the factor V deficiency in this case is hereditary.

Interventions:

The patient underwent a partial resection of the pancreatic head, and FFP was infused 1 hour before surgery. 600 mL of FFP was instilled 1 hour before the start of surgery along with 10 U of cryoprecipitate. and 600 ml of FFP were added during surgery. Postoperative treatment included intermittent FFP supplemental infusion in the first 5 days after surgery while monitoring the coagulation function.

Outcomes:

The patient underwent a successful surgery without any abnormal bleeding or oozing during the procedure. The postoperative recovery was smooth, with no abnormal bleeding.

Lessons:

Patients with a deficiency of coagulation factor V are not contraindicated for surgery. Appropriate Fresh Frozen Plasma (FFP) replacement therapy can ensure the safe conduct of the surgical procedure. For patients with abnormal blood coagulation function, we recommend testing for coagulation factors and inhibitors, as well as performing genetic testing for abnormal coagulation factors, which can provide guidance on marriage and childbirth.
Endophthalmitis associated with Staphylococcus cohnii after vitrectomy and silicone oil insertion: A case report
Authors: Zhang Yuqiu
Published: December 2023

Background:

To report a case of endophthalmitis in a silicone oil (SO)-filled eye associated with Staphylococcus cohnii. After vitrectomy, the environment for bacterial growth in the eye is removed, and SO has antibacterial effect on a variety of microorganisms. Endophthalmitis is seen in about 0.040% cases after pars plana vitrectomy and is even more uncommon in cases where SO is used.

Methods:

The patient was diagnosed as endophthalmitis and admitted to our hospital for emergency. The main concern is if intraocular infection can be controlled and the visual prognosis. In this case, multiple intravitreal antibiotics injection and anterior chamber washout were performed. Not only that, phacoemulsification was performed.

Results:

Hypopyon became less after 3 operations were performed. The infection was under control finally.

Conclusion:

To the best of our knowledge, it is the first report of S. cohnii endophthalmitis in an SO-filled globe of an middle-aged patient. It is important to treat infective endophthalmitis with antibiotics promptly. Delayed therapy may affect the visual prognosis.
Various soft tissue defect reconstructions using anterolateral thigh and vascularized fascia lata composite free flap
Authors: Cho Kyusang , Kang Jiwon , Eun Seokchan
Published: December 2023

The anterolateral thigh flap (ALT) is versatile for soft-tissue reconstruction of various body defects because of its thick and vascularized fascia component. We present our clinical experience with the functional one-stage reconstruction of complicated soft-tissue defects using ALTs with vascularized fascia lata (FL). Between April 2018 and February 2022, we transferred ALTs with FL components for various soft-tissue defects in 15 patients. The FL component was used for reconstruction of hand & forearm tendon, medial and lateral patellar synovial membrane, plantar aponeurosis, abdominal wall, dura and Achilles tendon. Functional outcomes were evaluated in each patient. Partial flap necrosis occurred in 2 patients and were treated successfully with minimal surgical debridement and dressing. The vascularized fascia could replace a tendon and fascial component and all the patients achieved satisfactory results without major postoperative complications. Anterolateral thigh flaps with vascularized FL provide reliable fascial and tendon components for single-stage reconstruction of complex soft tissue defects.
Risk factors for recurrence of differentiated thyroid carcinoma in children and adolescents: A retrospective cohort study
Authors: Jia Siyu , Tang Dengpeng , Peng Wen
Published: December 2023

This study aimed to provide a recent clinical evaluation of the outcome of treatment and the predictors of recurrence for Chinese children and adolescents with differentiated thyroid carcinoma (DTC). This is a retrospective cohort study at the Yunnan Cancer Hospital from May 2002 to August 2021. We analyzed several risk factors related to the recurrence of DTC in children and adolescents. The Chi-square test, Kaplan–Meier log-rank tests, and Cox regression analysis were used in the statistical analysis. A P-value <.05 was considered statistically significant. A total of 103 patients were enrolled, including 68 girls (66.0%) and 35 boys (34.0%) with a median age of 18 years (range: 7–20 years). All enrolled patients received standard treatment. Children (≤14years) tended to have multifocality and higher levels of thyroid imaging reporting and data system, higher pN stage, and higher American Thyroid Association (ATA) pediatric risk compared with adolescents (P < .05). The chief complaints and clinical treatment differed between children and adolescents. During a follow-up of 6 to 239 months (average 74.7 months, median 59 months), all patients survived, but recurrence occurred in 22 patients (22.4%). The disease-free survival rates at 1, 2, 5, and 10 years were 91.2%, 78.4%, 77.1%, and 77.1%, respectively. Univariate Cox regression and log-rank tests showed that positive preoperative thyroglobulin level, bilaterality, extrathyroidal extension, high pT/pN/pM stage, and high ATA pediatric risk were the risk factors for DTC recurrence in children and adolescents. Multivariate Cox regression found that extrathyroidal extension and ATA pediatric risk were independent risk factors for the recurrence of DTC in children and adolescents. Additionally, among the 38 cases with cN0 stage, one who had bilateral, and multifocal thyroid nodules experienced recurrence, while the remaining 37 cases with cN0 stage had no recurrence. In conclusion, compared with adolescents, children present with more highly malignant disease and are more prone to metastasis. The significant risk factors associated with the recurrence of DTC in children and adolescents were positive preoperative thyroglobulin level, bilaterality, high pT/pN/pM stage, extrathyroidal extension, and high ATA pediatric risk, with the latter 2 being independent risk factors. The surgical approach for cN0 patients should be personalized taking into account invasive features.
“You treat what you have to treat, and you don’t care as much if they understand or if they feel good about it”: Communication barriers and perceptions of moral distress among doctors in emergency departments
Authors: Brune Clara , Liljas Ann
Published: December 2023

Doctors facing communication barriers when assessing patients in emergency departments (ED) is a frequent phenomenon, as the global prevalence of dementia and migration have increased. This study aims to explore how communication barriers influence moral distress as perceived by medical doctors working at emergency departments. Twelve doctors at 2 different EDs in Stockholm, Sweden, participated. Answers on communication barriers were collected from an interview guide on moral distress. Informants’ responses were analyzed using qualitative thematic analysis. The results suggest that doctors experience moral distress when assessing patients with communication barriers due to an inability to mediate calm and safety and understand their patients, and due an increased need of resources and difficulties in obtaining consent before conducting examinations or interventions. In conclusion, communication barriers can be a cause of moral distress, which should be considered when developing tools and methods to mitigate and manage moral distress.
Prenatal diagnosis of microcephaly through combined MRI and ultrasonography: Analysis of a case series
Authors: Pei Shu-ping , Guan Hai-lian , Jin Feng
Published: December 2023

Introduction:

Intrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. The prognosis of microcephaly is highly variable and depends on the underlying cause and severity. In addition, microcephaly is often associated with various comorbidities, including intellectual disability, developmental delay, and epilepsy. Ultrasonography (US) is currently the most commonly used imaging modality for detecting microcephaly in the second trimester of pregnancy. However, antenatal brain magnetic resonance imaging (MRI) is increasingly being used as a more sensitive tool to identify structural abnormalities that may suggest a specific diagnosis. In this study, we report a case series of microcephaly diagnosed through the combination of MRI and US.

Patient concerns:

How to utilize a combination of MRI and US to screen for fetal microcephaly.

Diagnosis:

Based on the results of US and MRI examinations, patient 1 was found to have other craniocerebral malformations, patient 2 demonstrated macrogyria, and patient 3 exhibited skull irregularities.

Interventions:

The pregnancies of all 3 patients were terminated through the induction of labor by injecting Rivanol into the amniotic cavity.

Outcomes:

The 3 patients were discharged after a period of observation.

Conclusion:

US is an important tool for diagnosing fetal microcephaly. However, MRI can overcome the limitations of US and detect additional brain structural abnormalities, thereby providing more specific and valuable prenatal diagnostic information. Therefore, combining MRI and US has significant diagnostic value for fetal microcephaly.
Prehospital interventions and outcomes in traumatic cardiac arrest: a population-based cohort study using the Danish Helicopter Emergency Medical Services data
Authors: Wolthers Signe Amalie , Breindahl Niklas , Jensen Theo Walther , Holgersen Mathias Geldermann , Møller Thea Palsgaard , Blomberg Stig Nikolaj Fasmer , Andersen Lars Bredevang , Mikkelsen Søren , Steinmetz Jacob , Christensen Helle Collatz
Published: December 2023

Background and importance

Traumatic cardiac arrest is associated with poor prognosis, and timely evidence-based treatment is paramount for increasing survival rates. Physician-staffed helicopter emergency medical service use in major trauma has demonstrated improved outcomes. However, the sparsity of data highlights the necessity for a comprehensive understanding of the epidemiology of traumatic cardiac arrest.

Objectives

The primary objective of the present study was to evaluate survival and return of spontaneous circulation (ROSC) and to investigate the characteristics of patients with traumatic cardiac arrest assessed by the Danish HEMS.

Design

This was a population-based cohort study based on data from the Danish helicopter emergency medical service database.

Settings and participants

The study included all patients assessed by the Danish helicopter emergency medical services between 2016 and 2021.

Outcome measures and analysis

Data were analysed using descriptive statistics, non-parametric testing and logistic regression analyses. Descriptive analysis of prehospital interventions included cardiopulmonary resuscitation, defibrillation, airway management, administration of blood products, and thoracic decompression. The primary outcome was 30-day survival, and the key secondary outcome was prehospital ROSC.

Main results

A total of 223 patients with TCA were included. The median age was 54 years (IQR 34–68), and the majority were males. Overall, 23% of patients achieved prehospital ROSC, and the 30-day survival rate was 4%. Factors associated with an increased likelihood of ROSC were an initial shockable cardiac rhythm, odds ratio (OR) of 3.78 (95% CI 1.33–11.00) and endotracheal intubation, OR 7.10 (95% CI 2.55–22.85).

Conclusion

This study highlights the low survival rates observed among patients with traumatic cardiac arrest assessed by helicopter emergency medical services. The findings support the positive impact of an initial shockable cardiac rhythm and endotracheal intubation in improving the likelihood of ROSC. The study contributes to the limited literature on traumatic cardiac arrests assessed by physician-staffed helicopter emergency services. Finally, the findings emphasise the need for further research to understand and improve outcomes in this subgroup of cardiac arrest.
Metabolic imaging in recurrent gliomas: comparative performance of 18F-FDOPA, 18F-fluorocholine and 18F-FDG PET/CT
Authors: Sharma Anshul , Garg Ajay , Singh Manmohan , Sharma Mehar chand , Gupta Subhash , Kunhiparambath Haresh , Tripathi Madhavi , Kale Shashank Sharad , Bal Chandrasekhar
Published: December 2023

Purpose

The aim of this study was to directly evaluate glucose, amino-acid and membrane metabolism in tumor cells for diagnosis and prognostication of recurrent gliomas.

Methods

Fifty-five patients (median age = 36 years; 33 men) with histologically proven gliomas and suspected recurrence were prospectively recruited and underwent 18F-FDG (Fluorodeoxyglucose), 18F-FDOPA (fluorodopa) and 18F-Fluorocholine-PET/CT. Images were evaluated by two physicians visually and quantitatively [lesion-SUVmax, tumor (T) to gray-matter (G) and metabolically-active tumor volumes (MTV)]. After median follow-up of 51.5 months, recurrence was diagnosed in 49 patients. Thirty-one patients died with a median survival of 14 months.

Results

Diagnostic-accuracies for 18F-FDOPA, 18F-Fluorocholine,18F-FDG and contrast-enhanced-MRI were 92.7% (95% CI 82.7–97.1), 81.8% (69.7–89.8), 45.5% (33.0–58.5) and 44.7% (30.2–60.3), respectively. Among the 20 lesions, missed by MRI; 18F-FDOPA, 18F-Fluorocholine and 18F-FDG were able to detect 19, 14 and 4 lesions. Corresponding area-under-the-curves (T/G ratios) were 0.817 (0.615–1.000), 0.850 (0.736–0.963) and 0.814 (0.658–0.969), when differentiating recurrence from treatment-induced changes. In univariate-survival-analysis, 18F-FDOPA-T/G, visually detectable recurrence in 18F-FDG, 18F-FDOPA-MTV, cell-lineage and treatment-type were significant parameters. In Multivariate-Cox-regression analysis, 18F-FDOPA-MTV [HR = 1.009 (1.001–1.017); P = 0.024 (~0.9% increase in hazard for every mL increase of MTV)] and cell-lineage [3.578 (1.447–8.846); P = 0.006] remained significant. 18F-FDOPA-MTV cutoff <29.59 mL predicted survival higher than 2 years. At cutoff ≥29.59 mL, HR at 2 years was 2.759 (1.310–5.810).

Conclusion

18F-FDOPA-PET/CT can diagnose recurrence with high accuracy and MTV predicts survival. 18F-Fluorocholine is a good alternative. Higher 18F-FDG uptake is an adverse prognostic indicator.
Nurse-Led, Telephone-Based Primary Palliative Care Intervention for Patients With Lung Cancer
Authors: Reinke Lynn F. , Tartaglione Erica V. , Ruedebusch Susan , Smith Patti H. , Sullivan Donald R.
Published: December 2023

Palliative care is traditionally delivered by specialty-trained palliative care teams. Because of a national workforce shortage of palliative care specialists, there is an urgent need to explore alternative models of palliative care delivery to meet the needs of patients living with serious illness. As part of a multisite randomized controlled trial, 2 registered nurses without previous palliative care experience were trained to deliver a primary palliative care intervention to patients with newly diagnosed lung cancer. The intervention focused on assessing and managing symptoms, psychosocial needs, education, and initiating goals-of-care discussions. The primary outcome, improved symptom burden and quality of life, was not statistically significant. Despite this finding, nurses addressed 5 of the 8 National Consensus Project Guidelines domains of quality palliative care: structure and processes of care; physical, psychological, and social aspects of care; and ethical and legal aspects. Patients' engagement in goals-of-care discussions, a measure of high-quality palliative care, increased. Clinical recommendations offered by the nurses to the patients' clinicians were addressed and accepted on a timely basis. Most patients rated satisfaction with the intervention as “very or extremely” satisfied. These findings may inform future nurse-led palliative care interventions on the specific quality domains of palliative care.
Vulval Aphthous Ulcers in Adolescents Following COVID-19 Vaccination—Analysis of an International Case Series
Authors: Rudolph Annette , Savage Ruth
Published: December 2023

(Abstracted from J Pediatr Adolesc Gynecol 2023;36:383–392)

The occurrence of vulval aphthous ulcers (VAUs) after COVID-19 vaccinations has been described in a small number of case reports. National and international databases with well-documented case reports for early warnings of unintended adverse effects of the vaccines act as repositories of suspected adverse drug reactions with potential for supporting published case series and case reports.
Management of Endometrial Intraepithelial Neoplasia or Atypical Endometrial Hyperplasia
Authors: Boardman Lori , Novetsky Akiva P. , Valea Fidel ,   Committee on Clinical Consensus—Gynecology. This Clinical Consensus was developed by the American College of Obstetricians and Gynecologists' Committee on Clinical Consensus—Gynecology in collaboration with
Published: December 2023

(Abstracted from Obstet Gynecol 2023;142(3))

Endometrial cancer incidence is rising in the United States and disproportionally affects patients based on race, geography, and socioeconomic status. Endometrial intraepithelial neoplasia (EIN) or atypical endometrial hyperplasia (AEH) is often precursor lesions to adenocarcinoma in the endometrium.
Outpatient Foley Catheter for Induction of Labor in Obese Nulliparous Patients: A Secondary Analysis of OFFSITE II Randomized Controlled Trial
Authors: Seasely Angela R. , Xue Yumo , Ausbeck Elizabeth B. , Jauk Victoria C. , Blanchard Christina T. , Files Pamela , Kuper Spencer C. , Casey Brian M. , Szychowski Jeff M. , Harper Lorie M. , Tita Alan T. , Subramaniam Akila
Published: December 2023

(Abstracted from Am J Perinatol 2023;40:807–810)

As the rate of elective induction of labor (eIOL) is expected to rise following the ARRIVE (A Randomized Trial of Induction Versus Expectant Management) trial, reducing the time spent on labor and delivery has become a priority. The Outpatient Foley for Starting Induction of Labor at Term in Nulliparous Women (OFFSITE II) randomized controlled trial showed that cervical ripening with a Foley catheter in patients undergoing eIOL reduced the time from admission to delivery by 4.2 hours.
The impact of the implementation of computerized insulin order sets for the control of hyperglycemia in hospitalized cardiac patients
Authors: Kensara Raed Ehsan , Ismail Sherin , Aseeri Mohammed , Hasan Hani , Al Rahimi Jamilah , Zarif Hawazen , El Khansa Sara
Published: December 2023

Background

Glycemic control is crucial in managing hospitalized patients with type II diabetes (T2DM), and it presents as a clinical challenge in the cardiac population. Therefore, we aimed to evaluate the impact of computerized insulin order sets in T2DM hospitalized cardiac patients.

Methods

A quasi-experimental, pre- and post-study design. We included T2DM patients who were hospitalized for at least 3 days. Patients undergoing cardiac surgery were excluded. The primary endpoint was the mean difference in random blood glucose level (BGL) before and after the implementation of insulin order sets. While the secondary endpoints were to compare the median differences in fasting BGLs and the number of hyperglycemic and hypoglycemic episodes during the first 7 days. The study consisted of three phases: pre-implementation, intervention and post-phase. In the intervention phase, insulin order sets were integrated into the electronic prescribing system, and education was provided to the cardiology department. The post-phase included the patient’s post-implementations.

Results

A total of 194 patients were enrolled during the study period. The mean random BGL was 11.17 mmol/L, 95% CI, 10.6–11.7 in the pre-phase and 9.5 mmol/L, 95% CI, 9-1 –9.9 mmol/L in the post-phase (P < 0.001). The median fasting BGL was 9.2 mmol/L (7.4–11.8, IQR) in the pre-phase and 8.5 mmol/L (6.6–10.3, IQR) in the post-phase (P = 0.027). The number of hypoglycemic episodes was 24 in pre-phase and 33 in post-phase (P = 0.13).

Conclusion

The use of computerized insulin order sets was associated with potential improvements in random and fasting glycemic control without increasing the risk of hyperglycemia or hypoglycemia.
Nocardia otitidiscaviarum causing pulmonary nocardiosis: a case report and its review of literature
Authors: SRIVASTAVA SAUMYA , SAMADDAR ARGHADIP , KHAN SALMAN , Tak Vibhor , Bohra Gopal Krishna , Sharma Deepak , GHOSH ARNAB , NAG VIJAYA LAKSHMI
Published: December 2023

Background: Infections caused by Nocardia spp. can occur in immunocompromised as well as immunocompetent individuals. Although nocardiosis is rare, it is being increasingly recognized owing to the rise in occurrence rate over the years. The documentation of pleural involvement in nocardiosis is rare in India.
Case: We report a case of pulmonary nocardiosis in an immunocompromised individual caused by Nocardia otitidiscaviarum.  
Discussion: Pulmonary nocardiosis caused by Nocardia otitidiscaviarum may go unnoticed without clinical suspicion. Correct and timely identification is the key to proper patient management.
Conclusion: Coordination between clinicians and microbiologists is necessary for early diagnosis and appropriate management of nocardiosis.
Peritoneal Tuberculosis: An Underestimated Diagnosis
Authors: Laamara Leila , Benaissa Elmostafa , Achemlal Amine , Bounakhla Amal , Bssaibis Fatna , Ben Lahlou Yassine , Maleb Adil , Chadli Mariama , Elouennass Mostafa
Published: December 2023

Tuberculosis is an infectious disease that most often affects the lungs, it is of human-to-human transmission caused by Mycobacterium tuberculosis, and is still a major public health problem worldwide. 
In Morocco, a total of 29,327 cases were notified and put on treatment in 2021, as part of the National Tuberculosis Control Program (PNLAT). 
 
We report a case of peritoneal tuberculosis in a young female patient aged 18, who had presented for 10 days with a progressive increase in abdominal volume associated with vomiting and diarrhea. 
 
Due to the exudative and lymphocytic nature of the ascites fluid, a molecular biology PCR GeneXpert® MTB/RIF test for Mycobacterium tuberculosis complex was carried out and found to be positive, leading to the diagnosis of peritoneal tuberculosis. 
 
The diagnosis of peritoneal tuberculosis is not always easy, as the clinical signs are often insidious and unspecific. The most common are weight loss, fever and abdominal pain. 
 
Diagnosis must be based on clinical and radiological evidence, but confirmation must be bacteriological and/or histological. Bacterial culture remains the gold standard. 
 
Technological progress, particularly in molecular biology, has provided clinicians with new tools of diagnosing tuberculosis. The GeneXpert® test, approved for use by the WHO in December 2010. GeneXpert® has also made it possible to detect resistance to Rifampicin. 
In an endemic area, any unusual presentation of abdominal enlargement should raise suspicion of peritoneal tuberculosis to ensure timely therapeutic intervention. The management of peritoneal tuberculosis is multidisciplinary and requires coordination between physicians, bacteriologists and surgeons.
New genetic loci discovery for Alzheimer’s disease using explainable deep neural networks
Authors: Gkertsou Christina , Parameshwarappa Anitha Kugur , Shiyanbola Abdurrahman , Balkhiyarova Zhanna , Kouchaki Samaneh , Prokopenko Inga , Lagou Vasiliki , Demirkan Ayse
Published: December 2023

Background

Genome-wide association studies (GWAS) have shed light on various complex diseases and traits, by detecting more than 400,000 associated genetic loci. This number is expected to drastically increase because of the use of novel artificial intelligence methods offering new ways to study the effects of variants. Deep learning using artificial neural networks (ANN) is a sub-field of artificial intelligence, which simulates how the human brain learns. We aimed at assessing the potential of deep learning in human genetic studies of Alzheimer’s Disease (AD) and how these compare to the traditional statistical methods used in GWAS, by simultaneously testing the two approaches on the same dataset, while discovering new genetic loci associated to AD.

Methods

To address this aim, phenotypic and genome-wide SNP data from the UK Biobank was analysed on a binary outcome, AD diagnosis, in two different data balance options, of one-to-one and one-to-two case-control datasets, using 2,764 cases vs 2,764 controls and 5,528 controls respectively matched on gender, age, ethnicity, PC1-20 and genotyping array. Genetic data handling and GWAS were performed using PLINK, whereas neural networks were trained using GenNet, a new ANN tool, with the same datasets, separated into training (60%), validation (20%) and test (20%) sets. Neural network layers were determined using biological knowledge, by annotating SNPs to genes and genes to AD related pathways, using ANNOVAR annotations followed by GeneSCF and KEGG.

Results

Significant associations were detected between four SNPs linked to two different genes and AD for the 1 to 1 case-control study design and six SNPs linked to four different genes for the 1 to 2 case-control study design by using PLINK. All identified regions have been previously associated to AD. GenNet identified twelve SNPs on seven genes to be associated with AD, all with biological plausibility, achieving an AUC of 0.80 when using three biologically determined layers and 0.73 when using two layers at the neural networks. No common top SNPs were identified between the machine learning and GWAS models.

Conclusion

This is one of the first studies attempting to compare the traditional GWAS to more sophisticated state-of-art methods for understanding the genetic architecture of complex phenotypes using the same dataset. More systematic comparisons with such approaches on real data are needed to enable best practises for machine learning in the analysis of genome-wide genetic data.