bluuebunny/crossref_metadata_2025 huggingface dataset:
2815 Cross-cultural adaptation and psychometric properties of the Yoruba version of the clinical frailty scale
Authors: Adeniji T , Adebiyi ST , Okafor AC , Idowu O , Oyeyemi AY
Published: January 2025

Background

This cross-sectional study aimed to assess the socio-demographic, anthropometric, and patient characteristics of 94 Yoruba speakers aged 60 years and older, and to validate the Yoruba version of the Clinical Frailty Scale (CFS).

Methods

This study used a cross-sectional design with a purposive sampling technique and a sample size of 94 participants. This study also made use of the World Health Organisation methodologic guidelines on cultural adaptation of clinical scales. Convergent validity was assessed by evaluating the context that the Clinical frailty scale (CFS) relates to the Edmonton frailty scale, using the Spearman rank correlation coefficient. The known group validity was assessed using one-way ANOVA.

Results

The mean age of participants was 70.81 ± 8.11 years, with a mean BMI of 27.04 ± 5.61. The cohort included 38 males (44.4%) and 56 females (59.6%). Educational attainment varied, with 20.2% having no education and 9.6% holding postgraduate degrees. The validated CFS has excellent content validity (S-CVI/AVE = 0.96; S-CVI-UA = 0.78). Convergent validity demonstrated a moderate correlation between the CFS and the Edmonton Frail Scale (Spearman’s rho = 0.61, p < 0.01). Known-group validity indicated significant associations between frailty, age (p = 0.02), and BMI (p = 0.007).

Conclusion

The Yoruba version of the CFS is a valid tool for assessing frailty in elderly Yoruba-speaking populations.
2799 Exploring the physiotherapy and exercise needs and preferences of nursing home residents with dementia: a qualitative study
Authors: Boer D , Nibbering R , Schmidt C , Sterke S , Sizoo E , Vlieland TV
Published: January 2025

Introduction

Functional decline and restricted mobility are common issues among nursing home residents with dementia, resulting in frequent use of physiotherapy services. While these residents can typically articulate their therapy needs and preferences, these have not been investigated properly regarding physiotherapy and exercise, which may compromise therapy adherence. This study aims to explore the needs and preferences of nursing home residents with mild to moderate dementia in relation to physiotherapy and exercise interventions.

Methods

Semi-structured individual interviews were conducted with 15 nursing home residents diagnosed with mild to moderate dementia, who could understand and speak Dutch and were capable of providing informed consent. Thematic analysis was used to analyse interview data.

Results

From the interviews a total of 82 unique codes were identified, leading to four major themes: preferences regarding physiotherapeutic treatment, differences between physiotherapy and other exercises, preferences for unsupervised exercise, and communication and involvement preferences. Overall, residents wanted physiotherapy that included exercise and advice aimed at maintaining physical functioning and independence. Many participants indicated that a physiotherapist was not always required to supervise exercises as long as safety and quality were ensured. While residents wanted their family caregivers to stay informed about their therapy, they mostly preferred to exercise with someone other than a family caregiver.

Conclusions

Residents emphasised the importance of a physiotherapist providing information and understanding, and noted that sessions could be supervised by others if quality and safety are maintained. While residents preferred regular updates to their family, they did not want to exercise with them. A future coaching role for physiotherapists to oversee exercise interventions could enhance healthcare cost efficiency.
2785 Protocol for a feasibility randomised controlled trial of the OUTDOOR mobility intervention for older adults after hip fracture
Authors: Sheehan KJ , Bastas D , Lyczmanenko A , Guerra S , Creanor S , Hulme C , Lamb S , Martin FC , Sackley C , Smith T , Bell P , Hillsdon M , Pope S , Cook H , Godfrey E
Published: January 2025

Introduction

A high proportion of patients do not regain outdoor mobility after hip-fracture. Rehabilitation explicitly targeting outdoor mobility is needed to enable older adults to resume activities that they value most. The aim of this study is to determine the feasibility of a randomised, controlled trial intended to assess the clinical and cost-effectiveness of an intervention enabling recovery of outdoor mobility post hip-fracture (the OUTDOOR intervention).

Method

OUTDOOR is a multi-centre, parallel group, randomised, controlled, feasibility trial. Adults 60 years and older, admitted to hospital and planned discharge to home; with self-reported outdoor mobility three-months pre-fracture, surgically treated for hip fracture, who are able to consent and participate, are eligible. Individuals requiring two or more people to support mobility upon discharge are excluded. Screening and consent (or consent to contact) will take place in hospital. Baseline assessment and randomisation will follow discharge. Participants will receive usual care (physiotherapy, occupational therapy), or usual care plus the OUTDOOR intervention. OUTDOOR intervention includes a goal-orientated outdoor mobility programme, therapist-led motivational dialogue supported by a past-patient led videos sharing recovery experiences; and support to transition to independent recovery. Therapists delivering the OUTDOOR intervention will receive training in motivational interviewing, and behaviour change techniques. Patient reported outcome measures—health-related quality of life, daily activities, pain, community mobility, falls related self-efficacy, resource use, and readmission; will be collected at baseline, 6-weeks, 12-weeks, and 6-months (if enrolled early in the trial) post-randomisation. Exercise adherence and intervention acceptability will be collected. Subset of 20 participants will support accelerometery data collection for 10 days at each time point.

Trial received approval from East of England—Essex Research Ethics Committee (REF: 23/EE/0246) and the Health Research Authority. Findings will be disseminated to patients, the public, health professionals and researchers through publications, presentations, and social media.

Trial registered at ISRCTN16147125.
Contribution of shotgun metagenomics in the diagnosis of a subcutaneous phaeohyphomycosis caused by Parathyridaria percutanea
Authors: Monpierre Lorra , Angebault Cécile , Hua Camille , Merio Léa , Ortonne Nicolas , Lafont Emmanuel , Foulet Françoise , Botterel Françoise
Published: January 2025

Diagnosis of subcutaneous infection caused by Parathyridaria percutanea, a rare and emerging tropical fungal pathogen identified in an immunocompromised woman using clinical shotgun metagenomics.
Dietary Measures as an Adjunctive Therapy in Alopecia Areata: A Scoping Review
Authors: Bestavros Samantha , Huang Ryan S , McMullen Eric P , Metko Dea , Sibbald Cathryn , Donovan Jeffrey
Published: January 2025

Dietary measures in alopecia areata (AA) may influence both intestinal and skin inflammation. These potentially anti-inflammatory effects may promote hair regrowth in patients with AA. Following our extensive search, we reviewed 14 articles that investigated the impact of various dietary measures on hair regrowth in patients with AA.
Innate numerosity perception and its roots in early vision
Authors: Harvey Ben
Published: January 2025

In the current issue of Cerebral Cortex, Lorenzi et al. (2025) discuss evidence for an innate sense of object number (numerosity) in the brains of many species, without the need for visual experience. This commentary discusses how numerosity processing can be understood as an innate property of vision, derived from the spatial frequency-based representation of images in the visual systems of many animals.
Who is afraid of innate knowledge?
Authors: Berent Iris
Published: January 2025

The fascinating results of Lorenzi et al. (2025) suggest that the number sense is innate. Many readers might find this conclusion disturbing. Here, I explore the deep cognitive origins of this sentiment. Empiricism, I suggest, is deeply grounded in human nature. This conclusion obviously does not license us to assume that knowledge is innate, but it does suggest caution against heeding our skeptical gut reaction.
Clinical Features of Thiopurine-Induced Acute Pancreatitis: Comparison Between Patients With and Without Inflammatory Bowel Disease
Authors: Oizumi Tomofumi , Toya Yosuke , Yanai Shunichi , Matsumoto Takayuki
Published: January 2025

Background and Aims

Patients with inflammatory bowel disease (IBD) are at increased risk of developing acute pancreatitis (AP). Thiopurines (TP) are a well-known cause of AP. The aims of this study were to compare the incidence of AP and TP-induced AP (TIP) between patients with and without IBD under the use of TP and to assess for risk factors of TIP.

Methods

We examined a retrospective cohort of 664 patients treated with TP from 2016 to 2021 at our institution. AP was defined as pancreatitis confirmed by symptoms, serum tests, and radiology, and TIP as AP occurring shortly after starting TP and improving after withdrawal. We compared the incidence of AP and TIP between patients with and without IBD and reviewed the clinical features of TIP patients in detail.

Results

There were 366 IBD patients and 298 without IBD. IBD patients included 249 males (52.4%) with a median age of 39 years. Among them, 211 had ulcerative colitis (UC) and 155 had Crohn’s disease (CD). Azathioprine was administered to 560 patients, and 6-mercaptopurine to 104. AP occurred in 13 IBD patients but in none without IBD, with a significantly higher incidence in IBD patients (1.9% vs. 0%, P = .009). Seven of 13 patients with AP satisfied the criteria for TIP. Furthermore, 5 of the 7 TIP patients had a prior history of 5-aminosalicylic acid (5-ASA) intolerance.

Conclusions

TIP may be a condition specific to IBD. IBD patients with 5-ASA intolerance are prone to TIP.
Association between Life’s Essential 8 and risk of heart failure: findings from the Kailuan study
Authors: Liu Yang , Zhao Maoxiang , Jiang Jinguo , Peng Xinyi , Luo Donglei , Chen Shuohua , Wu Shouling , Qin Xueying
Published: January 2025

Aims

The impact of Life’s Essential 8 (LE8) on heart failure (HF) remains poorly understood. We examined the associations between three forms of LE8 measurements and HF.

Methods and results

A total of 35 896 participants without a prior history of HF from the Kailuan community were included. The LE8 status was measured in 2014. A latent mixture model was employed to identify the trajectories of LE8 during 2006 to 2014. The LE8 annual change rate was defined as the slope of the linear regression equation fitted by five LE8 measurements. Cox proportional hazards models were used to assess the risk of HF associated with LE8, after adjusting for potential confounding variables. The predictive performance was quantified and compared using the C-index. Five distinct LE8 trajectories were identified. 461 HF events documented during follow-up. The LE8 trajectories presenting an upward trend in LE8 were associated with a reduced risk of HF, even when the initial LE8 level was low [HR (95% confidence interval) for moderate-increasing vs. moderate-decreasing trajectory was 0.43 (0.34, 0.55)]. The LE8 status was inversely associated with HF risk. A higher LE8 annual increase was associated with a lower risk of HF. The LE8 trajectory was more accurate in predicting the risk of HF compared with LE8 status.

Conclusion

LE8 was inversely associated with HF risk. Individuals with initially low LE8 levels experienced a reversal in HF risk upon improvement. Both LE8 trajectories and status are practicable in identifying individuals at high risk of HF, LE8 trajectories may provide added prognostic information.
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

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

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 < 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.
Endocrinology
Authors: Raine Tim , Collins George , Brown Fraser , Howarth Sophie
Published: January 2025

This chapter covers the diagnosis and treatment of conditions related to the endocrine system. It discusses emergency treatment of hypoglycaemia and hyperglycaemia. The chapter also covers sliding scales, diabetes mellitus, the pituitary axis, adrenal disease, and thyroid disease.
Procedures
Authors: Raine Tim , Collins George , Brown Fraser , Howarth Sophie
Published: January 2025

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.
Multiscale Network Approaches to Decode the Complexity of Common Human Diseases
Authors: Wang Minghui , Liu Yiyuan , Schadt Eric , Zhang Bin
Published: January 2025

The study of common human diseases is embracing large-scale multi-omic data at both bulk and single-cell levels. The enormous amount of data provides an excellent opportunity to gain unprecedented insights into molecular mechanisms of diseases, but it also poses a great challenge in distinguishing signals from noises and causality from correlations at a system level. This chapter introduces a multiscale network analysis framework to integrate multiple modals of large-scale biological data in diseases into multiple complementary, actionable molecular network models that enable not only a holistic understanding of dysregulated pathways but also the identification of key molecular drivers of diseases. This chapter illustrates the procedure of the multiscale network analysis of bulk and single-cell functional genomics data in a disease. It further outlines challenges and future directions in network biology and systems biology in general to dissect multi-omic data in diseases toward precision medicine.
Neuromodulation and Psychiatric Disorders
Authors: Smith Andrew H. , Figee Martijn , Mayberg Helen S.
Published: January 2025

A remarkable recent development in psychiatric neuromodulation is convergence of circuit-level findings from multiple independent lines of inquiry. For common and often treatment-refractory illnesses such as major depressive disorder and obsessive–compulsive disorder, causal brain networks have been identified by investigators utilizing a variety of target sites (cortical vs. subcortical), device types (noninvasive vs. invasive), and trial designs (randomization at outset vs. at discontinuation). This chapter highlights how emerging evidence from across these diverse neuromodulation paradigms has revealed the structural and functional pathways mediating successful treatment of each disorder. It also shows how recent work has borne out the fundamental insight that particular subnetworks can be relevant to particular symptom domains irrespective of traditional diagnostic categories. In keeping with the unique way in which neuromodulation integrates neuroscience and clinical practice, this chapter is grounded in discussions of the most robustly validated and widely adopted neuromodulatory therapies.
Diagnosis and Epidemiology of Psychotic Disorders
Authors: Walsh-Messinger Julie , Nikou Ariella Farzan , Malaspina Dolores
Published: January 2025

This chapter discusses current and historic approaches to describe the phenomenology of schizophrenia-related and bipolar psychosis for classifications into diagnostic categories. The focus for advancing diagnostic practices shifted from descriptive to reliability and validity in the Diagnostic and Statistical Manual of Mental Disorders and the International Statistical Classification of Diseases and Related Health Problems. Because these categorical diagnoses did not advance knowledge of disease mechanisms, the chapter describes the introduction of dimensional assessments of symptom domains by the National Institute of Mental Health as the Research Domain Criteria. An unresolved current clinical proposal would combine all psychotic conditions into a “primary psychosis” category with continuous ratings of illness features. Finally, the chapter highlights some epidemiology, genetic, and population features of the psychoses and their clinical and etiological heterogeneity.
Model Building for the Study of Schizophrenia
Authors: Gordon Joshua A.
Published: January 2025

The complexity of schizophrenia begs the question as to what can be learned from preclinical models. Neither animal nor human cellular models can mimic the full complexity of symptoms and signs that is schizophrenia. Guided by specific hypotheses, however, model systems can and do provide important insights into neurobiological pathways of relevance to the disorder and can identify novel targets for therapeutic development. Considering models that test etiological hypotheses has led to the recognition that specific brain mechanisms play important roles in the pathways of risk for the disorder. Models of pathophysiological hypotheses support the notion that these processes could play a causal role in the signs and symptoms of the disorder. In addition, models of pharmacological hypotheses give rise to plausible mechanisms by which drugs mimic the disorder. The findings reviewed in this chapter provide powerful examples of the importance of model building for the study of schizophrenia.
Neural and Circuit Mechanisms of Cognitive Dysfunction in Schizophrenia
Authors: Dienel Samuel J. , Lewis David A.
Published: January 2025

Cognitive dysfunction, including disturbances in working memory, is a core feature of schizophrenia and the best predictor of long-term functional outcome. Although working memory depends on a distributed circuit involving multiple cortical and subcortical regions, the prefrontal cortex (PFC) is a critical node within the working memory network. Therefore, the neural substrate for impaired working memory in schizophrenia appears to reflect, at least in part, alterations in PFC glutamatergic, GABAergic, and dopaminergic signaling in persons with schizophrenia. This chapter reviews the basic circuitry of the primate PFC responsible for working memory and the alterations to this circuitry in individuals with schizophrenia. These alterations are revealed through both in vivo imaging studies and postmortem studies of PFC circuitry in schizophrenia. The convergence of findings suggests multiple avenues for novel therapeutic interventions targeted at ameliorating the cognitive burden and improving the functional outcome in this patient population.
Genetics of Bipolar Disorder
Authors: Liu Dongjing , Mullins Niamh
Published: January 2025

This chapter provides an overview of the genetics of bipolar disorder and its clinical subtypes. Bipolar disorder is highly polygenic and shows substantial genetic overlap with other mental illnesses. In recent years, the number of genome-wide significant loci identified through consortium efforts has increased from a handful to 64, and the first bipolar disorder gene implicated through rare protein-truncating variants has emerged from large-scale sequencing efforts. Translating these discoveries into biological and etiological understanding will require further developments of high-throughput experimental methods that can address large numbers of genes within genome-wide association study loci, as well as sophisticated computational approaches that can integrate genetic associations with multi-omics data. These future advances, combined with expanding collaboration and increasing sample sizes, will inevitably lead to biologically meaningful risk genes and pathways underlying disease risk, thus paving the way to actionable diagnostic and therapeutic knowledge.
Neuroimaging and Network Mechanisms in Bipolar Disorder
Authors: Edmiston E. Kale , Bertocci Michele A. , Ghane-Ezabadi Merage , Phillips Mary L.
Published: January 2025

Bipolar disorder is characterized by episodic depression and periods of elevated mood. This mood lability is thought to arise from altered brain structure and function. Neuroimaging has identified alterations in several large-scale networks in the disorder. Dysfunction of these networks may lead to altered task-based engagement of their hubs. Another key focus of the functional neuroimaging literature in bipolar disorder is reward anticipation. These studies also show altered function in reward-associated regions. Consistent with these findings, reduced gray matter volume and cortical thickness are observed in regions associated with reward anticipation and emotion regulation. Similarly, diffusion imaging methods have identified reduced white matter integrity in tracts that form the structural basis of these functional networks. Taken together, these findings contribute to an emerging neuroanatomic model of bipolar disorder that has the potential to aid in the development of novel approaches to prevention and treatment.
Diagnosis and Epidemiology of Depression
Authors: Murrough James W.
Published: January 2025

Depression is a leading cause of disability worldwide and is observed to occur in all geographical and socio-demographic contexts. Depression is common, and onset of illness tends to occur early in adulthood, contributing to its burden of illness. Risk factors for depression include early childhood adversity, low socioeconomic status, psychosocial stressors, and the presence of certain medical and psychiatric illnesses. The diagnosis of depression can be challenging, and the diagnosis relies of establishing the presence of a collection of characteristic symptoms and illness course. The illness is highly co-morbid with both other psychiatric illnesses as well as with non-psychiatric medical conditions. Emerging approaches to the diagnosis of depression consider dimensional approaches, as well as the role of objective biological and behavioural aspects of the illness, in diagnosis and in the identification of potential subtypes of the disorder.
Neuroendocrine Mechanisms of Depression
Authors: Binder Elisabeth B. , Deussing Jan M.
Published: January 2025

Major depressive disorder (MDD) is among the most common psychiatric disorders. This chapter summarized the evidence for neuroendocrine changes in the pathophysiology of MDD from both human and animal studies. The focus lies on the hypothalamus–pituitary–adrenal (HPA) axis, which is central for the response to stress and adversity. Altered function of the HPA axis has been linked to MDD at different levels, from measured endocrine changes to altered receptor function. Moderation by genetic variants and epigenetic mechanisms are discussed. Finally, the evidence for using measures of the HPA axis as biomarkers for MDD is presented, and pharmacological studies targeting this system are summarized.
Diagnosis and Epidemiology of Anxiety, Obsessive–Compulsive, and Trauma and Stressor-Related Disorders
Authors: Stein Murray B. , Keough Meghan E. , Roy-Byrne Peter P.
Published: January 2025

This chapter discusses the diagnosis and epidemiology of the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, anxiety disorders, obsessive–compulsive and related disorders, and trauma- and stressor-related disorders. These disorders are among the most common experienced by individuals on a 12-month and lifetime basis. Panic attacks can occur across many anxiety disorders, and they can co-occur with depressive disorders. Anxiety and related disorders tend to occur early in life and almost always chronologically precede depressive disorders, with which they are frequently comorbid. Studies have shown that the prevalence of anxiety disorders has increased during the COVID-19 pandemic era. Accurate differential diagnosis, including recognition of medical disorders that may be contributing to symptoms, is critical for optimal prognostic determination and treatment planning.