bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report
Authors: Nguyen Duc Quan , Can Thi Bich Ngoc , Vu Chi Dung , Tran Thi Anh Thuong , Nguyen Ngoc Lan , Nguyen Thi Kim Lien , Nguyen Van Tung , Nguyen Thanh Hien , Tran Thi Huong Giang , Nguyen Huy Hoang
Published: November 2024

Rationale:

Skeletal dysplasias are a complex series of rare genetic disorders that cause irregular development of bones, joints, and cartilages in children. A total of 770 disorders associated with 41 groups of skeletal dysplasia have been documented, demonstrating a wide range of clinical manifestations and varying levels of severity. In addition to conventional methods, whole genome sequencing has emerged as a useful approach to pinpointing the underlying etiology of skeletal dysplasias.

Patient concerns:

A 13-month-old female was admitted to the hospital due to the symptoms of jaundice and failure to thrive.

Diagnoses:

The child was subjected to blood tests and a radiographic assessment. The blood chemistries revealed elevated levels of total bilirubin (178 µmol/L), bile acids (198 µmol/L), and low levels of serum calcium (1.69 mmol/L) and phosphate (0.8 mmol/L), along with irregular skeletal development in the forearms and legs, considering rickets and cholestasis.

Interventions:

Whole exome sequencing data of the proband revealed a homozygous mutation of c.388dupA in the BAAT (bile acid-CoA: amino acid N-acyltransferase) gene sequence. This mutation caused a frameshift in the amino acid of the BAAT protein, resulting in the pR130Kfs*12 variant. This mutation has been identified as the underlying cause of skeletal dysplasia in the proband.

Outcomes:

A novel frameshift mutation in the BAAT gene of a Vietnamese female child diagnosed with skeletal dysplasia has been studied by whole exome sequencing analysis.

Lessons:

This research reported a case of skeletal dysplasia caused by a frameshift mutation in the BAAT gene. The results of this study contribute to our understanding of the diverse factors that influence irregular skeletal development in children and provide genetic data to support clinical practice.
Long- and short-term effectiveness of traditional Chinese exercises in improving the overall physical capacity of patients with knee osteoarthritis: A systematic review and meta-analysis
Authors: Qiu Boyuan , Wang Weiwei , Tang Gangjian , Chai Sheng , Zhang Xuan , Zhou Pengwei , Ou Zhixue
Published: November 2024

Background:

The increasing global popularity of traditional Chinese exercise (TCE) provides substantial evidence of its significant efficacy in treating knee osteoarthritis (KOA). To assess the impact of different types of TCE and varying exercise durations on KOA patients, we conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) on this topic.

Methods:

Two investigators extensively searched four electronic databases (PubMed, Embase, Cochrane, and Web of Science) from their inception until December 16, 2023, to identify all relevant RCTs on the use of TCE for KOA treatment. The included studies were assessed for risk of bias using the Cochrane Collaboration Risk of Bias Tool (CCRBT), and data analysis was performed using Stata 15.0.

Results:

A total of 20 RCTs, involving 1367 patients with KOA, met the inclusion criteria. Compared to the control group, TCE demonstrated significant improvement in three subscale scores of the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) [Pain (SMD = −0.44; P = .0001); Stiffness (SMD = −0.35; P = .001); Physical function (SMD = −0.52; P = .0001)] and two subscale scores of the 36-item Short-Form (SF-36) [Physical score (WMD = 2.76; P = .001); Mental score (WMD = 2.49; P = .0001)] in KOA patients. Subgroup analysis showed that both long-term habitual exercise (over 12 weeks) and short-term exercise (within 12 weeks) were more effective than the control group in improving pain, joint stiffness, and physical function in KOA patients. Tai Chi, among the four TCE modalities analyzed, demonstrated improvements in all indicators.

Conclusion:

Based on the results of our meta-analysis, it can be concluded that both long-term and short-term TCE interventions are effective in alleviating the main symptoms of KOA and improving patients’ physical function. However, due to limited methodological quality and inconsistent outcome measures in the included RCTs, further high-quality RCTs with larger sample sizes and longer-term interventions are necessary to validate our findings before TCE can be recommended as a treatment for KOA.
A case report of Stevens–Johnson syndrome caused by omeprazole
Authors: Xu Yuanhang , Zhang Lingjuan , Shen Lin , Guo Xueyan
Published: November 2024

Rationale:

Stevens–Johnson syndrome (SJS) is a rare but severe skin-mucosal reaction with a high mortality rate. It is characterized by sudden, painful blistering lesions on the skin, often accompanied by high fever and systemic toxicity. Lesions typically appear on the dorsal surfaces of the hands, feet, forearms, legs, and soles of the feet. They can also affect the conjunctiva, oral mucosa, labial mucosa, and vaginal mucosa. Patients may experience complications such as pneumonia, severe comorbidities, and liver and renal failure.

Patient concerns:

A 51-year-old female patient was admitted to the hospital due to “abdominal distention and skin yellowing for 20 days.” After using omeprazole, she developed a rash all over her body, and her liver function further deteriorated, ultimately leading to chronic acute liver failure.

Diagnoses:

The diagnosis included fever, rash suspected to be drug-induced, chronic and acute liver failure, and decompensation of post-Hepatitis B cirrhosis.

Interventions:

During hospitalization, suspected adverse drug reactions were discontinued, and symptomatic supportive treatment with methylprednisolone and fluid replacement was promptly provided.

Outcomes:

The patient’s symptoms and follow-up showed that the rash disappeared and liver and kidney function improved significantly after treatment.

Lessons:

We explored how chronic acute liver failure can cause immune system abnormalities and immune paralysis in patients, manifested as susceptibility to infection. This case report describes a drug-induced allergic reaction – SJS – in patients with chronic acute liver failure, as well as subsequent treatment, including hormone dosage and treatment duration. I hope this report will help enrich the relevant literature on drug-induced SJS combined with chronic and acute liver failure, laying the foundation for improving the survival rate of patients with the disease.
Safety assessment of basiliximab using real-world adverse event data from the FDA Adverse Event Reporting System Database: A retrospective observational study
Authors: Chen Sheng , Ma Xiaohan , Zhang Jianqiang
Published: November 2024

This study analyzed adverse drug events (ADEs) associated with basiliximab, sourced from the Food and Drug Administration Adverse Event Reporting System (FAERS) database, spanning the first quarter of 2004 to the fourth quarter of 2023. We collected ADE data for basiliximab from 2004 Q1 to 2023 Q4. After standardization, we employed several signal quantification methods for analysis, such as the Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propensity for Neural Networks (BCPNN), and empirical bayes geometric mean (EBGM). In this analysis of 1520 ADEs reports citing basiliximab as the primary suspect, we identified 295 preferred terms across 24 system organ classifications (SOCs). The 3 most prevalent SOCs were investigated (n = 1403, ROR 2.84, PRR 2.54, IC 1.34, EBGM 2.54), infections and infestations (n = 1198, ROR 2.85, PRR 2.59, IC 1.37, EBGM 2.59), and renal and urinary disorders (n = 903, ROR 6.01, PRR 5.48, IC 2.45, EBGM 5.47). Increased blood creatinine and pyrexia were the most frequently reported adverse events (AEs) associated with basiliximab, and cytomegalovirus infection also demonstrated significant signal intensity. Notably, this study revealed some adverse reactions beyond basiliximab drug instructions, such as mitral valve calcification, diastolic dysfunction, pelvic fluid collection, testicular swelling, soft tissue necrosis, and muscle necrosis. Although basiliximab offers therapeutic benefits, it carries the risk of several adverse reactions. Clinicians should monitor patients for signs of increased serum creatinine level, fever, cytomegalovirus infection, anaphylactic shock, mitral valve calcification, diastolic dysfunction, pelvic fluid collection, testicular swelling, soft tissue necrosis, muscle necrosis, and other events during clinical use.
Disparities in adherence to physical activity guidelines among US adults: A population-based study
Authors: Bhattacharyya Mehul , Miller Larry E. , Miller Anna L. , Bhattacharyya Ruemon , Herbert William G.
Published: November 2024

The objective of this study was to determine adherence to national guidelines for aerobic and muscle-strengthening physical activity among United States (US) adults and identify factors associated with guideline nonadherence. The 2022 National Health Interview Survey data were analyzed to evaluate self-reported physical activity among 26,494 US adults. Adherence to national guidelines was defined as engaging in ≥150 minutes moderate-intensity or ≥75 minutes vigorous-intensity aerobic activity/week, and muscle-strengthening activity ≥2 days/week. A multivariable logistic regression model evaluated associations between 24 sociodemographic and health variables with nonadherence to physical activity guidelines. Shapley Additive Explanations were used to assess the relative importance of each factor in the model. The population-weighted analysis revealed that only 24.3% of US adults met both the aerobic and muscle-strengthening activity guidelines. The regression model identified 17 factors significantly associated with nonadherence. When evaluating the relative importance of these variables, older age, lower educational attainment, and lower household income emerged as the primary determinants of nonadherence. Guideline adherence was lowest among subgroups with multiple risk factors, with only 6.5% of older adults with lower income and education meeting the guidelines. In contrast, adherence was 42.7% in younger respondents with higher incomes and educational attainment. In conclusion, physical activity rates among US adults remain below public health targets, with significant disparities among sociodemographic groups. Expanded outreach efforts targeting higher-risk populations are urgently needed to address barriers, promote physical activity engagement, and achieve health equity.
Postoperative clearance of high-risk human papillomavirus for patients with high-grade squamous intraepithelial lesion: Conization versus hysterectomy
Authors: Liu Xinglin , Fang Chunling , Hu Wenhao , Su Chang , Xu Fan , Hu Huiquan , Li Chengzhi
Published: November 2024

To compare the clearance rate of high-risk human papillomavirus (HR-HPV) in patients with high-grade squamous intraepithelial lesion (HSIL) after 2 different treatments (conization vs hysterectomy), and investigate the influencing factors. A retrospective cohort was established in HSIL patients with HR-HPV infection treated with conization or hysterectomy from July 2020 to May 2022. Age matching (1:1) was conducted between conization group and hysterectomy group. Chi-square test and t-test were employed to compare baseline and clinical characteristics between the 2 groups (conization vs hysterectomy). In addition, univariate and multivariate logistic regression analyses were conducted to compare the influencing factors for HR-HPV clearance at 6 months after surgery. The HR-HPV clearance rates at 6 months were 70.6% and 73.8% in conization group and hysterectomy group in the matched groups, respectively (P = .755). Similarly, at 12 months, the clearance rates were 78.6% and 76.5% in the matched groups, respectively (P = .844). Considering different age groups among all patients, the HR-HPV clearance rates were 81.8%, 72.9%, 73.5%, and 53.6% in the 20 to 30-year, 31 to 40-year, 41 to 50-year and 51 to 60-year groups at 6 months, respectively, and the clearance rates were 87.5%, 80.6%, 84.5% and 52.9% at 12 months, respectively. For HSIL, the postoperative HPV clearance rates were similar between the 2 groups (conization vs hysterectomy), conization is enough to resect the lesion and eliminate HPV. In addition, we should pay attention to the postoperative HR-HPV status in the older population of the 2 groups.
A case of necrotic pneumonia caused by Streptococcus pneumoniae was diagnosed using a pneumonia antigen test in BALF: A case report
Authors: Huang Yanjing , Guo Hongkun , Li Yiming
Published: November 2024

Rationale:

Streptococcus pneumoniae is a common cause of community-acquired pneumonia. Currently, it is believed that many cases of pulmonary infection with negative results on pathogenic testing are caused by S. pneumoniae. There have been no reports of the detection of S. pneumoniae antigen in lung lavage fluid.

Patient concerns:

An elderly male patient with suboptimal fasting blood glucose control and a history of liver abscess.

Diagnosis:

Chest computed tomography (CT) revealed inflammatory lesions in both lungs with consolidation in the middle lobe of the right lung.

Interventions:

After admission, we collected alveolar lavage fluid in a timely manner and performed pneumococcal antigen detection and etiological testing.

Outcomes:

Prompt testing for pneumococcal antigen in bronchoalveolar lavage fluid yielded a positive clinical outcome. Subsequent analysis via bacterial culture of sputum and next-generation sequencing (mNGS) of BALF definitively identified S. pneumoniae as the etiological agent. Following the analysis of drug sensitivity test results from the identified pathogens, adjustments were made to the antibiotic regimen, and appropriate pus puncture drainage was performed. Subsequently, the patient’s condition improved, leading to discharge.

Conclusion:

The identification of S. pneumoniae antigen in bronchoalveolar lavage fluid may facilitate earlier and more precise diagnosis of pneumonia attributed to S. pneumoniae.
Prediction of immediate bleeding after cold snare polypectomy: A prospective observational study
Authors: Oh Shin Ju , Jung Yunho , Hwangbo Young , Cho Young Sin , Chung Il Kwun , Lee Chang Kyun
Published: November 2024

The risk factors for immediate post-polypectomy bleeding (IPPB) after cold snare polypectomy (CSP) are not well-known. We sought to define such risk factors and develop a predictive risk-scoring model. This prospective observational study included 161 polyps (4–9 mm in diameter) that were removed via CSP from 118 patients during the period from June to September 2019 in 2 tertiary hospitals. IPPB was defined as post-polypectomy bleeding within 24 hours or grade 3 or 4 intraprocedural bleeding requiring endoscopic hemostasis. IPPB incidences according to grade were 13.0% (21/161) (grade 3) and 0% (grade 4). Univariate analysis showed that the polyp size and morphology, as well as iatrogenic ulcer size and shape, were significantly associated with IPPB. Multivariate analysis showed that polyp size [6–9 mm vs 4–5 mm, odds ratio (OR) 3.72, 95% confidence interval (CI) 1.28–10.79], polyp morphology (polypoid vs non-polypoid, OR: 3.93, 95% CI: 1.22–12.64), and iatrogenic ulcer size (≥10 vs ≤ 9 mm, OR: 3.12, 95% CI: 1.04–9.38) were significantly associated with IPPB. We created a four-marker risk-scoring model to predict IPPB after CSP; we summed the points assigned for the 4 factors. At a cutoff of 2, the sensitivity was 85.7% and the specificity was 65.0%; at a cutoff of 3, the sensitivity was 65% and the specificity was 90.0%. Polyp size and morphology, as well as iatrogenic ulcer size and shape, were associated with IPPB after CSP. The four-marker risk-scoring model appears to effectively predict IPPB after CSP (Clinical Research Information Service: KCT0004375).
Application of noncontact sensors for cardiopulmonary physiology and body weight monitoring at home: A narrative review
Authors: Choo Yoo Jin , Moon Jun Sung , Lee Gun Woo , Park Wook-Tae , Won Heeyeon , Chang Min Cheol
Published: November 2024

Monitoring health status at home has garnered increasing interest. Therefore, this study investigated the potential feasibility of using noncontact sensors in actual home settings. We searched PubMed for relevant studies published until February 19, 2024, using the keywords “home-based,” “home,” “monitoring,” “sensor,” and “noncontact.” The studies included in this review involved the installation of noncontact sensors in actual home settings and the evaluation of their performance for health status monitoring. Among the 3 included studies, 2 monitored respiratory status during sleep and 1 monitored body weight and cardiopulmonary physiology. Measurements such as heart rate, respiratory rate, and body weight obtained with noncontact sensors were compared with the results obtained from polysomnography, polygraphy, and commercial scales. All included studies demonstrated that noncontact sensors produced results comparable to those of standard measurement tools, confirming their excellent capability for biometric measurements. Overall, noncontact sensors have sufficient potential for monitoring health status at home.
Clinical and laboratory characteristics of asymptomatic and symptomatic neurosyphilis in HIV-infected patients: A retrospective study in China
Authors: Miao Ran , Zhang Wenjing , Ding Xinghuan , Li Wurong , Zhang Lei , Kou Cheng , Han Ning , Huang Yuming
Published: November 2024

There are high rates of human immunodeficiency virus (HIV) and Treponema pallidum coinfection, HIV can increase the incidence and disability rate of neurosyphilis. However, there is a lack of data about the risk factors associated with the development of symptomatic neurosyphilis (SNS). We retrospectively reviewed the medical records of inpatients with concurrent syphilis and HIV infection who underwent a lumbar puncture and completed cerebrospinal fluid (CSF) examination. Sixty inpatients were consecutively enrolled from Beijing Ditan Hospital between January 2015 and March 2023. The clinical and laboratory features were evaluated between the SNS and asymptomatic neurosyphilis (ANS) groups. All patients were male, 25% (15/60) patients were diagnosed with ANS, and 75% (45/60) patients were diagnosed with SNS. Meningovascular neurosyphilis was the most prevalent clinical form in this study. Age, CD4 cell count, highly active antiretroviral therapy use, and serum HIV viral load showed no statistically significant differences between the 2 groups. The SNS group lacked early detection of syphilis (P < .001) and did not get previous adequate therapy for syphilis (P < .001) than the ANS group, as well as a higher initial serum toluidine red unheated serum test (TRUST) titer, current serum TRUST titer, CSF white blood cell count (WBC), protein concentration, and CSF TRUST titer (P = .014, P = .042, P = .01, P = .007, and P = .007, respectively). In multivariable logistic regression, high CSF WBC count (odds ratio = 1.08; P = .032) and previous treatment of syphilis (odds ratio = 0.01; P = .049) related to the SNS. Lack of antisyphilis treatment in the early stage of syphilis and a higher CSF WBC count are related risk factors for SNS in HIV-infected patients. Meningovascular neurosyphilis should get more attention in young patients with cryptogenic stroke.
Transformed follicular lymphoma with laryngeal edema requiring tracheal intubation after tisagenlecleucel treatment: A case report
Authors: Shimazu Ryoma , Nakamura Nobuhiko , Goto Takayuki , Kaneda Yuto , Ikoma Yoshikazu , Matsumoto Takuro , Nakamura Hiroshi , Kanemura Nobuhiro , Shimizu Masahito
Published: November 2024

Rationale:

Cytokine release syndrome (CRS) is a common adverse event of chimeric antigen receptor T (CAR-T) cell therapy. CRS is generally a systemic inflammatory reaction, but in rare cases, it can occur in specific body areas and is referred to as “local CRS (L-CRS).” A case of laryngeal edema due to L-CRS that required tracheal intubation because of the lack of response to tocilizumab (TCZ) and dexamethasone (DEX) is reported.

Patient concerns:

A 67-year-old woman with relapsed transformed follicular lymphoma was treated with CAR-T cell therapy. Although she had been given TCZ and DEX for CRS, neck swelling appeared on day 4 after infusion.

Diagnoses:

Laryngoscopy showed severe laryngeal edema, which was presumed to be due to L-CRS, since there were no other apparent triggers based on history, physical examination, and computed tomography.

Interventions:

Tracheal intubation was performed because of the risk of upper airway obstruction. Ultimately, 4 doses of tocilizumab (8 mg/kg) and 6 doses of dexamethasone (10 mg/body) were required to improve the L-CRS.

Outcomes:

On day 7, laryngeal edema improved, and the patient could be extubated.

Lessons:

The lessons from this case are, first, that CAR-T cell therapy may induce laryngeal edema in L-CRS. Second, TCZ alone may be ineffective in cervical L-CRS. Third, TCZ, as well as DEX, may be inadequate. In such cases, we should recognize L-CRS and manage it early because it may eventually progress to laryngeal edema that requires securing the airway.
An unexpected bronchoscopic finding possibly induced by extracorporeal membrane oxygenation: A case report of bronchial Dieulafoy disease
Authors: Lv Xiaochun , Hu Caibao , Xu Qianghong , Fang Min
Published: November 2024

Rationale:

Bronchial Dieulafoy disease (BDD), a rarely reported disease, comes from dilated or abnormal arteries under the bronchial mucosa. Patients with BDD are generally asymptomatic so this disease is frequently misdiagnosed. However, the submucosal arteries may dilate and rupture for various reasons, leading to recurrent respiratory tract bleeding and potentially life-threatening conditions. With the change of reversible factors such as intravascular pressure, the arteries may return to normal, allowing patients to recover to an asymptomatic state. This phenomenon has not been mentioned and concerned in previous studies, but it may have important implications for our correct understanding of this disease.

Patient concerns:

A 44-year-old female was admitted to intensive care unit with recurrent malignant arrhythmias. With the assistance of VA-extracorporeal membrane oxygenation (ECMO), both her vital signs and internal environment were all gradually stabilized. However, she had been experiencing recurrent respiratory tract bleeding. While removing the bloody secretion with a fiber bronchoscopy, a congested protruding granule on the wall of the patient’s left principal bronchus was found.

Diagnosis:

The patient was diagnosed with BDD and the granule was thought to be an abnormal artery of BDD.

Interventions:

For the patient’s condition, we did not implement any targeted interventions with the abnormal artery.

Outcomes:

After the weaning of VA-ECMO, the patient’s granule could not be found and the bleeding had also disappeared. She gradually weaned off the mechanical ventilation and was transferred to the Department of Cardiology. Then the patient was discharged after her condition stabilized. In more than half a year, the patient is in a normal physical condition.

Lessons:

The appearance and disappearance of abnormal artery is an interesting phenomena of BDD. The change of intravascular pressure due to various causes such as VA-ECMO may be the primary factor of it.
Effect of vitamin D supplementation on cardiovascular outcomes: an updated meta-analysis of RCTs
Authors: Mirza Agha M.W. , Almansouri Naiela E. , Muslim Muhammad F. , Basheer Thahaseen , Uppalapati Sree V. , Lakra Swati , Fatima Hareem , Adhnon Arshiya , Filho Ivo W. , Mahmood Ruqeyya , Kumar Mahendra , Kandel Kamal , Ayyan Muhammad
Published: November 2024

Objective:

To evaluate the effect of vitamin D supplementation on cardiovascular outcomes.

Methods:

After searching different databases, we retrieved and included randomized controlled trials on long-term supplementation of vitamin D (≥1-year intervention) and reporting cardiovascular outcomes. We calculated risk ratio (RR) with 95% confidence intervals (CI) for dichotomous outcomes.

Results:

Compared to the control group, the vitamin D group was not associated with a statistically significant decrease in the incidence of major adverse cardiovascular events (MACE) [risk ratio=0.99; 95% CI: 0.94–1.03]. We found no difference between the vitamin D group and the control group for the outcomes of incidences of myocardial infarction, heart failure, coronary revascularization, cardiovascular death, and all-cause mortality. The heterogeneity was low for all outcomes.

Conclusion:

According to our meta-analysis, vitamin D supplementation did not reduce major adverse cardiovascular events, other cardiovascular parameters, and all-cause mortality.
Functional outcomes of tension band wiring versus hook plating in displaced, closed, and isolated distal clavicle fractures in adults: a comparative retrospective study
Authors: Eskandar Mohammad , Saed Maen , Yusuf Safwan
Published: November 2024

Introduction:

Clavicle fractures are common among young people, generally as a consequence of car accidents, bike falls, and contact sports injuries. 15–20% of all clavicle fractures involve the lateral end of the bone. Thus, the distal clavicle fractures, in particular, have a high non-union rate ranging from 21 to 33% when treated non-operatively, underscoring the usual advice for operative treatment. While significant research has been conducted on clavicle fractures and their treatment options, no definitive guidelines or optimal approaches have been established. Hence, the aim of this study was to assess the clinical and radiological results of the two highly used surgical techniques, Tension Band Wiring (TBW) and Hook plate ones, in addition to investigating the associated functional recovery and outcomes.

Methods:

Between August 2019 and 2022, An analytical retrospective comparative study, was done on 38 patients (20 TBW and 18 Hook plate) diagnosed with unstable fracture of the lateral third of clavicle (Neer 2), aged between 18 and 65 years old, and followed up for more than 12 months.

Results:

TBW technique was used in 20 patients (14 males and 6 females) with mean age 39.25 years and Hook plate was used in 18 patients (14 males,4 females) with mean age of 43.11 years. The union rate was 100% in Hook plate group and 95% in TBW group. The mean time of bony union to occur was (9.55) weeks in TBW group and (8.94) weeks in Hook plate group. The mean of constant–Murley score in the last follow-up was 85.32 in the TBW group and 87.38 in the Hook plate group. superficial infection occurred in 3 cases in TBW group (15%). Four patients complained of impingement, three patients complained of acromial erosion and one patient complained of acromial osteolysis in the Hook plate group.

Conclusion:

Both TBW and Hook plate are a good choice for the fixation of displaced distal clavicle fractures with good functional and radiological outcomes, where Hook plate have some advantages such as rigid fixation and early motion of the affected shoulder.
Leveraging telemedicine for enhanced maternal and perinatal care in rural Nepal: opportunities and challenges
Authors: Adhikari Pratik
Published: November 2024

This article explores the potential of telemedicine to revolutionize maternal and perinatal healthcare delivery in rural Nepal, where access to medical facilities is limited. By utilizing telemedicine technologies like remote consultations, mobile health applications, and tele-ultrasound, the authors can overcome barriers to healthcare access and improve outcomes for expectant mothers and newborns. The paper assesses the opportunities presented by telemedicine interventions and addresses the challenges that must be addressed for successful integration into rural healthcare systems.
Dandy–Walker syndrome: a bibliometric analysis of the most 100 cited articles
Authors: Alrefaie Khadeja , Jawed Noyan , Saleh Aalaa , Shibli Farah , Almealawy Yasser F. , Alrubaye Sura N. , Andrew Awuah Wireko , Abdul-Rahman Toufik , Chaurasia Bipin , Atallah Oday
Published: November 2024

Introduction:

Dandy–Walker syndrome (DWS), a complex neurodevelopmental disorder, has intrigued clinicians and researchers since its description by physicians Walter Dandy and Arthur Walker. Despite its recognition for nearly a century, understanding its etiology, pathogenesis, and clinical manifestations remains elusive. This bibliometric analysis aims to elucidate influential academic works on DWS.

Methods:

In January 2024, the authors conducted a Scopus search for articles on DWS and identified the top 100 referenced publications. The Harzing Publish or Perish search engine was utilized with relevant terms, including ‘Dandy-Walker’, ‘Dandy-Walker Syndrome’, and ‘Dandy-Walker Malformation’. Data from Scopus, including publication details and citation counts, were compiled and organized using Microsoft Excel. Statistical analysis and data visualization were performed using Python, with Pandas, Matplotlib, Seaborn, and NetworkX libraries employed for this purpose.

Results:

The bibliometric analysis of DWS research revealed key insights. Significant research output was noted in the 2000–2009 and 1990–1999 decades. The cumulative citations totaled 6059, with an average of 2.60 citations per year per article. Leading authors included W B Dobyns, Kathleen J Millen, and G Pilu. Institutions such as the University of California and Harvard Medical School were prominent, with the United States being the predominant contributor. Major journals like the American Journal of Medical Genetics played significant roles.

Conclusion:

This bibliometric study summarizes the most-cited articles on DWS, providing light on the field and its seminal works that have shaped both present-day clinical treatment and the trajectory of future research.
The Midline Catheter Within the Context of Home Intravenous Antibiotic Treatment
Authors: Cabrero Elisabeth Lafuente , Robledo Roser Terradas , Cuñado Anna Civit , Sardelli Diana García , Huerta Carla Molina , Perez Laia Lacueva , Estevez Purificacion Estevez , Esquinas Cristina , Tortosa Avelina
Published: November 2024

Home intravenous antibiotic treatment (HIAT) consists of the administration of intravenous antibiotic therapy in the home of the patient. Short peripheral intravenous catheters have long been the first option for antimicrobial therapies. However, these devices are known for their short durability. At present, the midline catheter is one of the median duration devices most commonly used and recommended within the context of HIAT. The objective of this study was to evaluate the occurrence of complications related to midline catheters implanted by a vascular access team in patients undergoing HIAT within the context of home hospitalization. This was a prospective observational study, which consecutively included 77 patients. A total of 92 midline catheters were analyzed. The complications observed were device obstruction (8.7%), infiltration (3.3%), dislodgement (2.2%), and thrombosis (1.1%). Bivariate analysis showed that the pH of the drug and ertapenem administration were associated with catheter obstruction. The authors found a low prevalence of midline catheter-associated complications in patients undergoing HIAT. The use of antireflux needleless connectors should be considered to reduce obstructions. In addition, algorithms that include the variable of type of daily life activity should be developed for deciding the most appropriate catheter for home hospitalized patients receiving HIAT.
An environmental scan of limb loss rehabilitation centers across Canada
Authors: Hitzig Sander L. , Zidarov Diana , MacKay Crystal , Dilkas Steven , Alshehri Fayez , Russell Rachel , Rios Jorge , O'Connell Colleen , Hebert Jacqueline S. , Underwood Heather A. , King Sheena , Zucker-Levin Audrey , Habra Natalie , Andrysek Jan , Viana Ricardo , Payne Michael W. , Hunter Susan W. , Dudek Nancy L. , Best Krista L. , Mercier Catherine , Noonan Vanessa K. , Katz Joel , Pousett Brittany Mae , Walker Jan , Miller William C. , Mayo Amanda L.
Published: November 2024

Background:

The clinical landscape of limb loss rehabilitation across Canada is poorly delineated, lacks standard rehabilitation guidelines, and is without a shared clinical database.

Objective:

To address these gaps, the objective of the present study was to undertake an environmental scan of the rehabilitation centers across Canada that provide inpatient and/or outpatient services to the limb loss community.

Study Design:

An environmental scan was conducted to describe the rehabilitation service structure, program services, and outcome measures of sites across Canada.

Methods:

A survey was sent to 36 rehabilitation centers providing care to people with amputations.

Results:

Of the 36 centers, 31 completed the survey (11 = Ontario; 8 = Quebec; 6 = British Columbia; 2 = Saskatchewan; 2 = New Brunswick; 1 = Alberta; 1 = Manitoba). Twenty-five provided both inpatient and outpatient services, 1 provided inpatient care only, and 5 provided only outpatient services. Interprofessional services were provided to a wide range of upper extremity amputation and lower extremity amputation patient populations. Range of motion was the most commonly collected outcome for both patients with upper extremity amputation and lower extremity amputation. With regard to prosthetics and orthotics fabrication, 9 of the sites had these services on-site while 15 had off-site fabricators, 6 had both, and 1 provided no response.

Conclusions:

Our findings highlight that limb loss rehabilitation and prosthetic care delivery is variable across Canada with respect to clinical team members, locations of services, and complementary services such as mental health treatments and peer support groups.
Higher non-HIV-comorbidity burden in long-term survivors
Authors: Vonder Thom W. , Mudrikova Tania
Published: November 2024

Objective:

The possible differences in comorbidity burden were examined between people with longstanding HIV infection and those with shorter HIV duration of the same calendar age.

Design:

We performed a single-centre retrospective cohort analysis comparing long-term HIV survivors (LTS) diagnosed with HIV before 1996 (pre-HAART), with an age-matched and gender-matched group diagnosed after 2006 [modern ART era (mART)].

Methods:

Demographic and outcome data up to 1 May 2023 were obtained from electronic health records as well as from digitalized paper charts. Nine comorbidity domains were defined to overlook the comorbidity burden as on 1 May 2023: cardiovascular, musculoskeletal, neurological, oncological, liver, pulmonary, renal, psychiatric/cognitive, and metabolic.

Results:

Eighty-eight LTS and 88 people diagnosed in the modern ART era were included in the analysis. Median age in both groups was 60 years. LTS had a higher mean number of comorbidity domains than controls (2.6 vs. 1.9; P = .001). In both LTS and mART groups, metabolic and cardiovascular comorbidity was most prevalent (metabolic 70.5 and 52.3%, respectively, cardiovascular 44.3 and 38.6%, respectively). When stratified according to age, the distribution of the number of comorbidities for LTS roughly resembled the 10 years older mART subgroup. In a multivariate analysis, total ART duration and age were found to be statistically significantly associated with the number of comorbidity domains.

Conclusion:

Our analysis suggests that LTS have a higher comorbidity burden compared with people diagnosed in the modern ART era of similar calendar age.
Underreporting, Prevalence, and Epidemiological Trends of Orofacial Clefts in the Brazilian Amazon Region
Authors: Souza Martins Rocha Cynthia , de Souza Rocha Franklin , Gerk Ayla , Lopes Salomão Sarah , Kim Ana , Telles Luiza , Laus Pereira Lima Beatriz , Melo de Carvalho Monica , Alonso Nivaldo
Published: November 2024

Cleft lip and palate are the most common congenital anomalies of the cranial segment worldwide. Particularly in low-income and middle-income countries, these conditions are associated with increased morbidity and mortality, socioeconomic challenges, and considerable psychological and social integration difficulties for affected individuals. This study aims to evaluate the epidemiological profile of patients with these conditions treated at a newly established specialized center in the Brazilian Amazonian Region. Data were extracted from medical records at a Reference Service for Clefts and Craniofacial Anomalies in the north of Brazil, covering the period from 2016 to 2020. These were compared with data from the official epidemiological health portal of the Brazilian Ministry of Health. The study recorded a total of 852 patients, with males comprising 54.4%. The predominant type of cleft was the transforaminal cleft, which accounted for 69.4% of cases, followed by postforamen clefts at 17.3%. The left side was more frequently affected in 63% of the cases. The primary surgical intervention performed was cheiloplasty, representing 39.5% of all procedures. Notably, 52% of the patients were from the interior regions of the state. The 2019 DataSUS data indicated a prevalence of cleft lip and palate in the State of Pará of 4.26 per 10,000 live births. However, data from this single specialized hospital showed a higher prevalence of 7.58 per 10,000 live births. These results may reflect underreporting of the number of cases reported in national official data sets.
Insights Into Facial Surgery Trends in the United States in the Setting of Gender Dysphoria: A National Analysis From 2012 to 2019
Authors: Hinson Chandler , Palacios Christian , Camacho Justin M. , Stoffel Victoria , Patel Heli , Kohan Joshua , Brandel Michael G. , Reid Chris M. , Gosman Amanda A.
Published: November 2024

Introduction:

Over the past decade, there has been an improvement in access to gender-affirming surgical care for the transgender population. Even with improvements, this population continues with a high level of inequity among access to specialized surgical care. While multiple studies have previously focused on trends among top and bottom surgery, this study provides trends specifically among facial gender affirmation surgery (FGAS) within the United States.

Methods:

The National Inpatient Sample (NIS) was utilized to identify patients who underwent FGAS from 2012 to 2019. The diagnostic codes for gender identity disorder and gender dysphoria were used to identify the desired patient population. CPT coding released in a medical policy for transgender care coverage was used to identify those who underwent FGAS. Frequency distributions from the patient population were analyzed to determine differences among characteristics.

Results:

In total, 660 patients underwent FGAS from 2012 to 2019. The incidence of FGAS has increased by 1433%. Geographically, FGAS was more likely to be performed in the West and Northeast geographical regions (P<0.0001). There was a statistically significant difference in hospital length of stay and the total number of charges when stratified by race (P<0.0001 and P=0.0003), hospital location (P<0.0001 and <0.0001), and insurance type (P<0.0001 and <0.0001). The largest cohort of patients paid out-of-pocket (P<0.0001).

Conclusions:

FGAS is one of the fastest-growing GAS procedures. Currently, FGAS procedures are not equally distributed, with higher concentrations occurring among wealthier, white individuals in certain geographical regions. Future studies are warranted to understand further trends within FGAS.
Plastic Surgery Contributions to the World Wars: Historical Foundations for Modern Craniofacial Techniques
Authors: Treger Dylan , Taylor Ruby , Prasad Soumil , Thaller Seth R.
Published: November 2024

Introduction:

Plastic surgery played a crucial role during the World Wars. Surgeons dedicated their careers to reconstructing facial injuries and residual deformities incurred during combat. Times of unprecedented trauma led to rapid innovation in plastic surgery, with invaluable impact on practice today. Pioneers such as Harold Gillies are well-known for their work. There are numerous additional contributors who deserve wider recognition.

Methods:

A literature review was performed to identify key surgeons who treated soldiers’ craniofacial injuries during World Wars I and II. Biographical information, country of practice, and technical contributions to plastic surgery were compiled.

Results:

Nineteen plastic surgeons were identified who contributed significantly to craniofacial surgery during the World Wars. These surgeons were: Albéric Pont, Archibald Mcindoe, Arthur Mowlem, Harold Gillies, Hippolyte Morestin, James Barrett Brown, Jaques Joseph, Johannes Esser, John Staige Davis, John Reese, Otto Lanz, Paul Tessier, Robert Ivy, Suzanne Blanche Gros Noël, Thomas Kilner, William Kelsy Fry, Varaztad H. Kazanjian, Vilray P. Blair, and Vladimir Petrovich Filatov. Fourteen were active during WWI. Nine were active during WWII. Notable technical developments were made in maxillofacial fracture fixation, bone grafting, rhinoplasty, dental prosthetics, flap-based coverage, skin grafting, and burn reconstruction.

Conclusion:

Plastic surgeons played an unheralded role in managing the disfiguring craniofacial injuries of World Wars I and II. By treating tens of thousands of war victims, these surgeons contributed not only to the rehabilitation of soldiers but also to the advancement of craniofacial surgery and the establishment of plastic surgery as a distinct subspecialty.
Surgical Innovation in Serial Reconstruction of Micrognathia Using Free Fibular Flap: Insights From a Study and Literature Review
Authors: Bangun Kristaninta , Atmodiwirjo Parintosa , Tania Vika , Pancawati Julieta , Turnip Gita Amelia , Larasati Anjani
Published: November 2024

Background:

Free fibular flap (FFF) is the main modality in the reconstruction of maxillofacial defects. Micrognathia is a condition where the mandible is smaller than it should be. Micrognathia is typically treated with mandibular distraction osteogenesis, bilateral sagittal split osteotomy, and conventional costochondral graft. In cases in which these procedures cannot be performed, FFF becomes a suitable alternative. Publications regarding the use of FFF in cases of micrognathia are currently still limited. In this case, we present the use of FFF in the reconstruction of a severely micrognathic mandible in an adult patient.

Case Presentation:

A 28-year-old woman with micrognathia was referred to Dr. Ciptomangunkusumo Hospital for reconstruction. The patient had previously undergone temporomandibular joint (TMJ) reconstruction surgery with interpositional TMJ arthroplasty 10 years prior due to an ankylosing TMJ that prevented the opening of the jaw. The treatment for ankylosing TMJ was necessitated due to the patient’s inability to open their mouth, resulting in significant challenges with alimentation, speech, and facial morphology. Here the authors reported mandibular lengthening reconstruction in the anteroposterior axis with FFF. A surgical osteotomy was performed on the posterior segment of the bilateral mandibular ramus, then the segmented fibula was inserted into the resulting defect. Flap refinement was also performed following FFF. Postsurgical evaluation revealed notable enhancements in the patient’s esthetic appearance, occlusal function, and amelioration of obstructive sleep apnea symptoms.

Conclusions:

FFF for mandibular reconstruction is feasible and effective in improving esthetic and functional outcomes in patients with micrognathia.
A Global Review of Advanced Practice Nursing in the Emergency Department
Authors: Denke Nancy J. , Schumann Lorna , Switzer Diane F.
Published: November 2024

As demands in the way of healthcare delivery increase, nurse practitioners have become essential components in optimizing access to healthcare and improving outcomes around the globe. The authors recognize the vital role nurse practitioners play globally and that education, practice, and credentialing differ significantly across countries. Many countries have a wide variation in educational requirements, resulting in a lack of adequate advanced practice nursing training and regulation of practice. Additionally, many countries are experiencing increased demands in the form of emergency services, with long waiting times and severe crowding in emergency departments. Worldwide, many programs are being developed to educate advanced practice nurses on improving emergency medical care, but developing such programs is a complex process This article aims to discuss the scope of practice and roles of advanced practice nurses globally. We will also attempt to clarify and improve these global standards and discuss competencies in this role.
SID-2 is a conserved extracellular vesicle protein that is not associated with environmental RNAi in parasitic nematodes
Authors: Blow Frances , Jeffrey Kate , Chow Franklin Wang-Ngai , Nikonorova Inna A. , Barr Maureen M. , Cook Atlanta G. , Prevo Bram , Cheerambathur Dhanya K. , Buck Amy H.
Published: November 2024

In the free-living nematode
Caenorhabditis elegans,
the transmembrane protein SID-2 imports double-stranded RNA into intestinal cells to trigger systemic RNA interference (RNAi), allowing organisms to sense and respond to environmental cues such as the presence of pathogens. This process, known as environmental RNAi, has not been observed in the most closely related parasites that are also within clade V. Previous sequence-based searches failed to identify
sid-2
orthologues in available clade V parasite genomes. In this study, we identified
sid-2
orthologues in these parasites using genome synteny and protein structure-based comparison, following identification of a SID-2 orthologue in extracellular vesicles from the murine intestinal parasitic nematode
Heligmosomoides bakeri
. Expression of GFP-tagged
H. bakeri
SID-2 in
C. elegans
showed similar localization to the intestinal apical membrane as seen for GFP-tagged
C. elegans
SID-2, and further showed mobility in intestinal cells in vesicle-like structures. We tested the capacity of
H. bakeri
SID-2 to functionally complement environmental RNAi in a
C. elegans
SID-2 null mutant and show that
H. bakeri
SID-2 does not rescue the phenotype in this context. Our work identifies SID-2 as a highly abundant EV protein whose ancestral function may be unrelated to environmental RNAi, and rather highlights an association with extracellular vesicles in nematodes.
Cebpa is required for haematopoietic stem and progenitor cell generation and maintenance in zebrafish
Authors: Chen Kemin , Wu Jieyi , Zhang Yuxian , Liu Wei , Chen Xiaohui , Zhang Wenqing , Huang Zhibin
Published: November 2024

The CCAAT enhancer binding protein alpha (CEBPA) is crucial for myeloid differentiation and the balance of haematopoietic stem and progenitor cell (HSPC) quiescence and self-renewal, and its dysfunction can drive leukemogenesis. However, its role in HSPC generation has not been fully elucidated. Here, we utilized various zebrafish
cebpa
mutants to investigate the function of Cebpa in the HSPC compartment. Co-localization analysis showed that
cebpa
expression is enriched in nascent HSPCs. Complete loss of Cebpa function resulted in a significant reduction in early HSPC generation and the overall HSPC pool during embryonic haematopoiesis. Interestingly, while myeloid differentiation was impaired in
cebpa
N-terminal mutants expressing the truncated zP30 protein, the number of HSPCs was not affected, indicating a redundant role of Cebpa P42 and P30 isoforms in HSPC development. Additionally, epistasis experiments confirmed that Cebpa functions downstream of Runx1 to regulate HSPC emergence. Our findings uncover a novel role of Cebpa isoforms in HSPC generation and maintenance, and provide new insights into HSPC development.