bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic analysis of elevated levels of creatinine and cystatin C biomarkers reveals novel genetic loci associated with kidney function
Authors: D’Antonio Matteo , Arthur Timothy D , Gonzalez Rivera Wilfredo G , Wu Ximei , Nguyen Jennifer P , Gymrek Melissa , Woo-Yeong Park , Frazer Kelly A 
Published: January 2025

Abstract
The rising prevalence of chronic kidney disease (CKD), affecting an estimated 37 million adults in the United States, presents a significant global health challenge. CKD is typically assessed using estimated Glomerular Filtration Rate (eGFR), which incorporates serum levels of biomarkers such as creatinine and cystatin C. However, these biomarkers do not directly measure kidney function; their elevation in CKD results from diminished glomerular filtration. Genome-wide association studies (GWAS) based on eGFR formulas using creatinine (eGFRcre) or cystatin C (eGFRcys) have identified distinct non-overlapping loci, raising questions about whether these loci govern kidney function or biomarker metabolism. In this study, we show that GWAS on creatinine and cystatin C levels in healthy individuals reveal both nonoverlapping genetic loci impacting their metabolism as well as overlapping genetic loci associated with kidney function; whereas GWAS on elevated levels of these biomarkers uncover novel loci primarily associated with kidney function in CKD patients.
Real-world efficacy and tolerability of CAB+RPV LA in women: addressing the gender gap in HIV treatment research
Authors: Rosas Cancio-Suárez Marta , Moreno Ana , Del Campo Terrón Santos , Vivancos María Jesús , G. García-Ruiz De Morales Alejandro , Martínez-Sanz Javier , Ron Raquel , Sánchez-Izquierdo Sofía , Vélez-Díaz-Pallarés Manuel , Moreno Santiago , Pérez-Elías María Jesús 
Published: January 2025

Abstract

Background
Women, particularly those of advanced age with comorbidities and polypharmacy, are often underrepresented in clinical trials evaluating long-acting (LA) antiretroviral therapy (ART) regimens like cabotegravir and rilpivirine (CAB + RPV LA). This single-center study aims to address this gap by assessing the effectiveness, tolerability, and adherence to CAB + RPV LA, focusing on women who often have complex health profiles.

Methods
In this single-center, retrospective study, we analyzed virologic suppression rates, adherence and tolerability in our cohort of women living with HIV comparing their outcomes to men on the same regimen.

Results
A total of 270 individuals (42 women and 228 men) were included. Women had a higher prevalence of comorbidities (86% versus 49%, P = 0.0001), and were more likely to have used ≥5 ART lines (69% versus 29%, P &lt; 0.0001), and 31% were aged ≥60 years compared to 13% of men (P = 0.003). Despite higher rates of comorbidities and polypharmacy, women achieved virologic suppression and adherence levels comparable to men. CAB + RPV LA was well-tolerated in both groups, with no significant gender-based differences in treatment outcomes.

Conclusion
CAB + RPV LA is effective and well-tolerated in women with complex ART histories, providing a viable long-acting alternative for populations traditionally underrepresented in clinical trials. These findings underscore the importance of including women in studies of novel ART regimens to ensure equitable access and outcomes.
Phenotypic Characterization of ENPP1 Deficiency: Generalized Arterial Calcification of Infancy and Autosomal Recessive Hypophosphatemic Rickets Type 2
Authors: Ferreira Carlos R , Hackbarth Mary E , Nitschke Yvonne , Botschen Ulrike , Gafni Rachel I , Mughal M Zulf , Baujat Genevieve , Schnabel Dirk , Schou I Manjula , Khursigara Gus , Reardon Oona , Burklow Thomas R , Swanner Kathleen , Rutsch Frank 
Published: January 2025

Abstract
Generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are age-related phenotypes of the rare genetic mineralization disorder, ENPP1 Deficiency, which evolve on a phenotypic continuum. To date, our understanding of the clinical spectrum of ENPP1 Deficiency is based on small studies or case reports, across which there is significant variability in clinical presentation, and limited duration of follow-up.
From a previously published large retrospective natural history study, we performed a subgroup analysis to elucidate the most prevalent signs and symptoms of ENPP1 Deficiency diagnosed as GACI or ARHR2 to illustrate the onset and incidence of these complications over the lifetime, and to characterize the associated medical burden of disease.
Of the 84 individuals with ENPP1 Deficiency analyzed, 51 had a recorded diagnosis of GACI, 11 were diagnosed with ARHR2, and 22 were diagnosed with both. We confirmed that those diagnosed with GACI presented predominantly with early-onset arterial calcification, respiratory distress, heart failure, and hypertension, necessitating acute inpatient care and leading to high (44%) infant mortality. Notably, we found that the majority (60.3%) of those with a history of GACI had prenatal ultrasound anomalies, including effusions, polyhydramnios, and hydrops fetalis.
We estimated that 70% of individuals with ENPP1 Deficiency who survive to age 10 will have developed musculoskeletal complications, primarily rickets and/or osteomalacia. The clinical picture of ARHR2 in this study extended beyond skeletal deformities to include hearing impairment, joint involvement, and ongoing risk of cardiovascular problems.
This study sheds light on the signs and symptoms of ENPP1 Deficiency in the real world, with implications for life-long patient monitoring.
Disodium hydrogen phosphate facilitates the gold enhancement reaction of nanogold in the pre-embedding immunoelectron microscopy
Authors: Okuma Kana , Yamaguchi Junji , Kakuta Soichiro , Ichimura Koichiro 
Published: January 2025

Abstract
Immunoelectron microscopy is a technique for analyzing molecular localization at the ultrastructural level. In the pre-embedding immunoelectron microscopy, samples are immunolabeled with extremely small gold particles. Gold enhancement then enlarges the gold particles to an easily visible size. During the examination of the optimal conditions, we found that phosphate buffer accelerates the enhancement reaction. Furthermore, disodium hydrogen phosphate was identified as responsible for this effect. Disodium hydrogen phosphate enabled the gold labeling of deep regions within thick tissue samples. In conclusion, our method is useful for increasing the sensitivity, especially in the deeper region of the sample.
Open mesh repair of an iatrogenic post-nephrectomy Bochdalek hernia in an adult: a case study
Authors: Waters James P , Topper Gena V , Romiyo Vineeth , Hayden Ian P , Panico Robert A , Shersher David D 
Published: January 2025

Abstract
Bochdalek hernias arise from a developmental failure of the pleuroperitoneal canal to close, allowing abdominal contents to herniate into the thorax and compress the developing lung parenchyma. In rare cases, Bochdalek hernias may arise in adults and usually present with symptoms related to the hernia. Treatment consists of either open, laparoscopic, or robotic repair to close the defect. We present an unusual case in which an elderly patient presented with a large left-sided Bochdalek hernia containing both an incarcerated stomach and spleen following an uncomplicated robotic left nephrectomy. The hernia was successfully reduced and reconstructed with mesh via open abdominal repair with minimal complications. Repairing these hernias is challenging and, as in this case, required a complex reconstruction of diaphragm with mesh attachment to the ribs. Further reports on acute management of iatrogenic Bochdalek hernias in adults are warranted to better understand long-term post-operative outcomes and optimize management.
Evaluation of the efficacy of novel treatment strategy to treat Dhat syndrome: a pilot study
Authors: Bhat Gajanan S , Shastry Anuradha 
Published: January 2025

Abstract

Background
Dhat Syndrome is difficult to treat due to the unwavering belief of the patients about the harmful effects of semen loss. We hypothesized that this belief can be overcome by objective demonstration of zero health benefit of zero semen loss using reversible anejaculation property of silodosin.

Aim
To prospectively evaluate the efficacy of objective demonstration of zero health benefits of zero semen loss as treatment strategy to alter the mental construct of the Dhat syndrome patients using a randomized double blind placebo controlled two arm switchover study design.

Methods
The patients with complaints of Dhat syndrome were recruited post-confirmation of the diagnosis by Dhat Syndrome Evaluation Questionnaire (DSEQ). After excluding participants based on exclusion criteria, participants’ anxiety and perceived physical fitness was assessed using Hamilton Anxiety Rating Scale (HARS) and Perceived Physical Fitness Scale (PPFS) respectively. They were randomized into two groups with Group 1 receiving placebo and Group 2 receiving silodosin 8 mg respectively with counseling being common for both. After 2 months, and a drug wash out period of 7 days, the participants were switched and interventions continued for another two months. In the end, Dhat symptomatology with DSEQ, anxiety with HARS and perceived physical fitness with PPFS were assessed and compared with initial assessment and discussed with the participants in a one to one session. Main outcome measure: The post-intervention change in Dhat Syndrome symptomatology in our study participants.

Results
A total of 32 adult males grouped as 1 (N = 18, mean age 28.9 ± 4.8 years) and 2 (N = 14, mean age 27.4 ± 4.3 years) participated in the study with none and 59% reporting semen loss while on silodosin and placebo respectively. The PPFS showed no statistically significant difference irrespective of the type of treatment in our participants and approximately 2/3rds of the participants reported relief from Dhat symptomatology and significant reduction in anxiety related to semen loss.

Clinical implications
Objective demonstration of zero health benefits of total prevention of semen loss to the patients of Dhat syndrome directly contradicts the unwavering belief about the harmful effects of semen loss in these patients thus altering their mental constructs.

Strengths and limitations
Prospective randomization design and objective demonstration of zero health benefits of zero semen loss are the strengths and the small sample size is the limitation of the study.

Conclusions
The alteration of the mental construct of the Dhat syndrome patients using novel treatment strategy was successful in majority of our study participants.
The plastidial glucan phosphorylase modulates maltodextrin metabolism and affects starch parameters in Arabidopsis thaliana
Authors: Singh Aakanksha , Rajendran Rajadurga , Schöttler Mark Aurel , Li Xiaoping , Liu Qingting , Muntaha Sidratul Nur , Fettke Joerg 
Published: January 2025

Abstract
The plastidial α-glucan phosphorylase (PHS1) can catalyze the elongation and degradation of glucans, but its exact physiological role in plants is not completely deciphered. A plethora of studies have indicated that PHS1 is involved in transitory starch turnover, both in photosynthetic tissues as well as reserve starch accumulation in sink organs of multiple species, by exerting its effects on the plastidial maltodextrin pools. Recent studies have also established its role in the mobilization of short maltooligosaccharides (MOSs), thereby assisting in starch granule initiation. This paper highlights our current findings from studying four constitutive double-knock out mutants related to the plastidial maltodextrin metabolism namely phs1dpe1, phs1ptst2, phs1pgm1 and phs1isa3 of Arabidopsis thaliana. Our studies have indicated different effects on carbon partitioning in these double mutants. The carbon allocation between starch and sucrose in different double mutants varied with respect to time and light conditions with significant overall changes in phs1dpe1. Furthermore, a potential time specific function of PHS1 in maltodextrin metabolism has come to light. Changes in maltodextrin turnover exerted effects on the starch granule number and size in the double mutants especially phs1dpe1. The characterized double mutants have been further assessed in terms of photosynthetic efficiency, and starch parameters such as internal structure and morphology in detail. Our results have shown that the different photosynthetic parameters in pgm1 and its corresponding double mutant were affected relative to WT and phs1. However, other double mutants were not impaired in terms of photosynthetic efficiency despite alterations in their MOS levels.
Ex-Premie for Interval Hernia Repair at 11 Weeks
Authors: Resti Joseph P. , Smallman Bettina 
Published: January 2025

Abstract
The ex-premature infant is one of the most challenging patient populations encountered by the pediatric anesthesiologist. Although the main preoperative focus is often on the respiratory system, prematurity affects development of almost every organ system. These patients are at higher risk of complications related to anesthesia and require subspecialist care to optimize outcomes. Complications related to neurotoxicity and long-term brain development are also highest in this patient population when receiving anesthesia as a young infant. Thorough preoperative evaluation and risk assessment is key when planning an anesthetic for the ex-premature infant. The case covered in this chapter covers all aspects of perioperative care of this special patient population.
Severe Aortic Stenosis
Authors: Baron Elvera L. , Weiner Menachem M. 
Published: January 2025

Abstract
Patients with suspected or poorly defined valvular heart disease should undergo echocardiography preoperatively to quantify the severity. The risk of noncardiac surgery can be minimized by choosing an anesthetic approach appropriate to the valvular heart disease and considering a higher level of perioperative monitoring. It is imperative for anesthesiology providers to select appropriate patients for ambulatory surgical centers (ASC) and be vigilant regarding the presence of high-risk medical conditions. While it may be acceptable under particular circumstances to perform procedures at ambulatory centers on American Society of Anesthesiologists (ASA) physical status 3 or 4 patients, those who may be at undue risk for complications should be referred to an appropriate facility for performance of the procedure and the administration of anesthesia. Thus, it is necessary to perform a robust risk-benefit calculation to see if the risk of treating a patient with significant valvular disease in an ambulatory center is appropriate.
Clinical Application of Perioperative Brain Health
Authors: Blacker Samuel N. 
Published: January 2025

Abstract
Perioperative brain health guidelines create care pathways and multidisciplinary teams to identify and care for elderly patients, targeting the prevention of delirium and postoperative cognitive dysfunction (POCD) which can have a lasting impact on health outcomes. Special recommendations also exist for nonagenarians and centenarians. All the recommendations advise screening patients 65 and older for risk factors of changes to postoperative cognition, for providers to speak with patients and their family members about brain health, and for the development of strategies to reduce and treat delirium and postoperative cognitive dysfunction. Current practice continues to entail incorporating the elements of high-quality anesthesia.
Can I Refuse to Anesthetize This Patient?
Authors: Blitz Jeanna D. 
Published: January 2025

Abstract
The goals of a preoperative evaluation are several-fold: risk stratification and medical optimization, facilitation of communication among all members of the interdisciplinary team, care coordination, and patient counseling. Patients at increased risk of poor perioperative outcomes due to preexisting comorbidities, social determinants of health, or a low level of health literacy will benefit from an in-person preoperative evaluation. A preoperative visit facilitates the achievement of shared perioperative goals and true informed consent. Taking a patient-centered approach to preoperative decision-making requires understanding the primary principles of medical ethics: patient autonomy, beneficence, nonmaleficence, and justice. Informed consent requires a discussion of the risks and benefits of the proposed therapy, a presentation of all alternatives to the proposed treatment (including foregoing treatment), and an assessment of capacity. Physicians have a moral obligation to provide healthcare to all patients, in accordance with the patient’s autonomy, except in circumstances where the requested treatment represents care below an established professional standard or, in rare scenarios, where providing care conflicts with the provider’s religious or moral beliefs.
Nonverbal Autistic 30-Year-Old for Full Mouth Dental Rehabilitation with Malignant Hyperthermia
Authors: Bacon Jonathan , Epstein Ralph 
Published: January 2025

Abstract
Autism spectrum disorder (ASD) encompasses a span of neurodevelopmental disorders characterized by persistent deficits in socialization and interpersonal communication in conjunction with restrictive and repetitive behaviors. ASD patients can pose a significant challenge to the anesthesia provider. With an increasing prevalence of ASD, more anesthesiologists will be called upon to care for these patients. The aim of this chapter is to offer a comprehensive review of ASD for the anesthesia provider. Unusual scenarios and novel pharmacologic approaches are presented and explored. By understanding physiological differences, comorbidities, and common medications, the anesthesiologist can improve patient care and family satisfaction while increasing safety for all parties.
Patient with AAA with Implanted Spinal Cord (Neuro) Stimulator
Authors: Whitacre Meredith , Grecu Loreta 
Published: January 2025

Abstract
In the United States, abdominal aortic aneurysms (AAA) have a prevalence of approximately 1.4% or 1.1 million Americans. Current guidelines recommend screening patients 65–75 years of age with a history of tobacco abuse with an abdominal ultrasound. An enlargement of the aorta greater than or equal to 3 cm is considered an aneurysm, and presentation can range from asymptomatic to “in extremis” in cases of rupture. While some AAAs are appropriate for surveillance, some require repair through an open or an endovascular approach. Patients presenting for surgical intervention come with their own set of unique perioperative challenges and require careful preoperative planning.
Patient with Pacemaker-Dependent ICD for Renal Cryoablation
Authors: Trigo Blanco Paula , Oprea Adriana D. 
Published: January 2025

Abstract
Patients with a cardiac implantable electronic device (CIED), such a pacemaker or an implantable cardioverter defibrillator (ICD), require special considerations in the perioperative period. Since the prevalence of patients with a CIED presenting for surgery is steadily on the rise, it is common to encounter these patients in the perioperative period. Based on the location of the surgery, the type of electrocautery used, and whether the patient is pacemaker-dependent or not, different feasible perioperative ICD management strategies can be implemented on patients with ICDs. The majority of patients with CIEDs are evaluated yearly by their cardiologist or electrophysiologist and their devices are interrogated on a regular basis. Perioperative considerations should be formulated by the perioperative team in communication with the patient’s CIED team.
Discharge Criteria in Developmentally Disabled Patient with OSA
Authors: Wong Jonathan L. , Saraghi Mana 
Published: January 2025

Abstract
Obstructive sleep apnea (OSA), a periodic partial or complete obstruction of the airway that occurs during sleep or unconsciousness, is a common clinical problem, with a majority of those with moderate to severe OSA undiagnosed. The anesthesiologist must be aware of the patient with OSA, diagnosed or undiagnosed, due to both implications to the patient’s airway and the medical comorbidities associated with the condition. The STOP-Bang model has been validated as an effective screening tool in the preoperative patient. Positive airway pressure (PAP) devices are the gold standard in treatment of OSA, but patient compliance is often an issue. Perioperative use of these devices, if available, may prevent postoperative complications. Careful consideration must be given to the choice of medications for preoperative sedation, induction, and maintenance of anesthesia, and postoperative analgesia. The anesthesiologist must consider each individual patient’s perioperative course carefully when determining suitability for discharge to an unmonitored location.
Self-harm prevention in clinical and non-clinical contexts
Authors: Quarshie Emmanuel Nii-Boye , House Allan 
Published: January 2025

Abstract
This chapter outlines approaches to primary prevention in the general population and in special settings. The former includes educational programmes, skills training, and fostering support networks as well as use of social media as a resource. The latter includes programmes in schools and prisons. Media policy can be important. The chapter also identifies groups in society whose members are at increased risk of self-harm but where their primary needs are in other spheres—for better access to general medical or mental health services, to education or vocational training to improve employment prospects, or to better social support and protection against stigmatization or discrimination in day-to-day life. The chapter concludes with some recommendations provided by adults and young people interviewed for this purpose.
Looking to the future
Authors: Quarshie Emmanuel Nii-Boye , House Allan 
Published: January 2025

Abstract
Despite more than half a century’s experience with self-harm there are still substantial gaps in our knowledge. We do not fully understand self-harm as a social phenomenon—for example why it has emerged so strongly as a socially understood response to distress and how it is related to age and gender. The relation between self-harm and suicide is complex. While a history of self-harm is by far the biggest known risk for suicide, the absolute risk is small. That is, the great majority of people who self-harm do not go on to take their own lives at a later date. How can we work to find new ways to understand what tips the balance for those who do move from non-fatal self-harm to suicide? Individual-level therapies can be helpful, but they are not universally effective in alleviating distress or removing the risk of further self-harm or suicide.
History and examination
Authors: Raine Tim , Collins George , Brown Fraser , Howarth Sophie 
Published: January 2025

Abstract
This chapter walks readers through taking a thorough patient history and conducting various types of medical examinations. It covers basic examination pertaining to the cardiovascular, respiratory, gastrointestinal, neurological, and endocrine systems, as well as skin and oncological examination. The chapter discusses examination and history taking of the breast (male and female), head, eyes, as well as urological and musculoskeletal examination. Finally, it covers more specialized areas such as the female reproductive system, psychiatric assessment, and neonatal and paediatric examination.
Procedures
Authors: Raine Tim , Collins George , Brown Fraser , Howarth Sophie 
Published: January 2025

Abstract
This chapter covers the main medical procedures which Foundation doctors may be required to perform. It discusses blood and injection procedures (including femoral stab, blood tubes, and IV injections), cardiology procedures (such as ECGs and cardiac monitors, chemical cardioversion, and thrombolysis), and respiratory procedures (including pleural tap and endotracheal intubation). Finally, the chapter covers urological procedures, gastroenterology procedures, and neurological procedures, as well as other procedures such as joint aspiration and injection, local anaesthetic, and suturing.