This case report chronicles the diagnostic odyssey and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES). The patient presented to a precision medicine clinic with multiple diagnoses including intellectual disability, autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), tics, seizures, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Although this patient previously had chromosomal microarray and several single-gene tests, the underlying cause of this patient\'s symptoms remained elusive. WES revealed a pathogenic missense mutation in the HNRNPU gene, associated with HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) and developmental and epileptic encephalopathy-54 (DEE54, OMIM: # 617391). Following this diagnoses, other treating clinicians identified additional indications for genetic testing, however, as the WES data was readily available, the clinical team was able to re-analyze the WES data to address their inquiries without requiring additional tests. This emphasizes the pivotal role of WES in expediting diagnoses, reducing costs, and providing ongoing clinical utility throughout a patient\'s life. Accessible WES data in primary care settings can enhance patient care by informing future genetic inquiries, enhancing coordination of care, and facilitating precision medicine interventions, thereby mitigating the burden on families and the healthcare system.

This study explores the complex interplay between coccidioidomycosis (valley fever) and sarcoidosis through a detailed case study of a 54-year-old male patient. The patient presented with elevated calcium levels, chronic kidney disease (CKD), and unintended weight loss. Interdisciplinary collaboration between nephrologists and pulmonologists played a crucial role in navigating the intricate medical challenges, including hypercalcemia, renal dysfunction, and pulmonary anomalies. The diagnostic journey involved extensive laboratory findings uncovering the involvement of both infectious agents and granulomatous disorders. The patient exhibited positive cocci IgG antibodies, indicating coccidioidomycosis. Further complications included glomerulonephritis, as revealed by ongoing systemic inflammation. Tailored management strategies were implemented, including corticosteroid therapy for sarcoidosis-related inflammation and antifungal interventions for coccidioidomycosis. Vigilant monitoring of renal function, hypercalcemia, and weight loss was essential for comprehensive patient care. The study underscores the significance of interdisciplinary collaboration, systematic diagnostics, and personalized patient care in managing complex medical presentations and contributes to understanding the interplay between these two conditions.

BACKGROUND: Intra-abdominal pregnancies, while rare, present with unique diagnostic and management challenges. We present a case of a 25-year-old para 2 + 1, black African woman, who was referred from a peripheral Health Centre level IV in the Northern part of Uganda to a Regional Referral Hospital due to an abnormal presentation with easily palpable fetal parts. This case emphasizes the significance of prompt diagnosis, interdisciplinary collaboration, surgical planning, and managing the placenta in advanced intra-abdominal pregnancies.
METHODS: A 25 year African black female, para 2 + 1 upon arrival at Regional Referral Hospital, a University Teaching Hospital during a weekend, an ultrasound was sourced from a nearby private clinic revealing an extra-uterine intra-abdominal pregnancy at 38 weeks of gestation and she was promptly sent back to the University Teaching Hospital. Following this diagnosis, the patient, who hailed from a remote village over 30 km away, returned to her family for discussions. After three days, she was readmitted. Emergency laparotomy unveiled an omental gestation sac with extensive placental attachment. A live female infant was delivered successfully, placenta was left in situ. The postoperative course was uneventful, with initial concerns about inadequate breast milk flow which resolved after placental removal during the second exploratory laparotomy.
CONCLUSIONS: This case highlights the uncommon occurrence of an advanced intra-abdominal pregnancies and emphasizes the importance of multi-disciplinary teamwork and placental management. The favorable outcome in the management was based on thorough assessment of the placental location, attachments and blood supply during surgery. It demonstrates the possibility of reduced risk of massive bleeding if there is a delayed removal of placenta with favorable attachment. This is particularly important for milk letdown as well as reducing the needs of blood transfusion in resource limited settings.

Policy-makers and hospital boards throughout the world have implemented different measures to create and sustain effective hospital-physician relationships. The \'integrated funding\' policy reform in the Netherlands was aimed at increasing hospital-physician alignment and led to the unforeseen formation of medical specialist enterprises (MSEs): a fiscal entity representing all self-employed physicians in a hospital. It is unknown how hospitals and MSEs perceive their alignment and how they govern the relationship. This study explores the hospital-MSE relationship, and how governance styles influence perceived alignment in this relationship.
A multiple case study of five non-academic hospitals in the Netherlands was performed. Data was derived from two sources: (1) analysis of hospital-MSE contracts and (2) semi-structured interviews with hospital and MSE board members. Contracts were analysed using a predefined contract analysis template. Interview recordings were transcribed and subsequently coded using the sensitizing concepts approach.
Contracts, relational characteristics, governance styles and perceived alignment differed substantially between cases. Two out of five contracts were prevention contracts, one was a mixed type, and two were promotion contracts. However, in all cases the contract played no role in the relationship. The use of incentives varied widely between the hospitals; most incentives were financial penalties. The governance style varied between contractual for two hospitals, mixed for one hospital and predominantly relational for two hospitals. Development of a shared business strategy was identified as an important driver of relational governance, which was perceived to boost alignment.
Large variation was observed regarding relational characteristics, governance and perceived alignment. MSE formation was perceived to have contributed to hospital-physician alignment by uniting physicians, boosting physicians\' managerial responsibilities, increasing financial alignment and developing shared business strategies. Relational governance was found to promote intensive collaboration between hospital and MSE, and thus may improve alignment in the hospital-physician relationship.

Public health challenges rapidly escalated during the COVID-19 pandemic. In response to a severe lack of resources and support in the near western suburbs of Chicago, the COVID Equity Response Collaborative: Loyola (CERCL) was established by an interprofessional team of Loyola University Chicago students, staff, and faculty. CERCL sought to minimize the negative impact of COVID-19 on vulnerable communities, those that are largely Black, Hispanic, or low-income. From April 2020 to the present, the collaborative utilized community-academic partnerships and interdisciplinary collaborations to conduct programming. CERCL\'s programming included free community-based testing, screening for and assistance with social determinants of health, dissemination of relevant and reliable COVID-related information, provision of personal protective equipment, and facilitation of access to vaccines. With partners, the collaborative conducted 1,500 COVID-19 tests, trained 80 individuals in contact tracing, provided over 100 individuals with specifically tailored resources to address social and legal needs, distributed 5,000 resource bags, held 20 community conversations, canvassed 3,735 homes, and hosted 19 vaccine clinics. Community-academic partnerships with the health system, community and governmental agencies, and the local public health department have been critical to CERCL efforts. The interdisciplinary and interprofessional successes demonstrated in this case study lends the example of a relevant, sustainable, and practical intervention to address nuanced public health issues.

In Fall 2020, a female physical therapist (PT) developed mild changes in gait, infrapatellar tendon pain, and lateral patellar tracking. As a PT in good physical condition, she did not access her employer\'s occupational health clinic but instead she self-treated. Two months after symptom onset and self-treatment, she was diagnosed with an intramuscular myxoma within her left vastus lateralis, the largest muscle within the quadricep. The employee was at risk of slips, trips, and falls as the mass grew. Due to the location and increasing size of the mass, the employee required surgical treatment. Healthcare workers, particularly those who provide treatment, are likely to self-treat rather than seek assistance from the occupational health professional. The employee was seen by a plastic surgeon for an unrelated medical condition which is when the myxoma was diagnosed. Further delay may have led to occupational injury associated with the balance and gait disturbances. Opportunity exists for the occupational health professional to provide a review of services, including screening for musculoskeletal changes associated with occupational injury such as those described herein. This is especially important among those healthcare workers who tend to self-treat.

Among various approaches to handling friction between (dis)abilities and the built environment, universal design (UD) has emerged as an interdisciplinary field for research and practice. However, while the literature denotes UD as a design concept, practice, and strategy for rehabilitation, its true impact is still largely unknown. To explore the rehabilitative potential of UD and determine how to evaluate its impact, this paper seeks to turn the tables. It investigates a case regarding low-vision rehabilitation, in which a group of consultants developed a holistic lighting assessment (HLA) that embraced the social and the physical contexts of the visually impaired. The lighting assessment was performed using participant observations from 15 consultations, document analysis, and interviews with the low-vision consultants. Based on an actor-network theory (ANT) approach, the analysis reveals the contextual knowledge of participants, environments, and the interaction between them. The combination of quantitative and qualitative methods in HLA enabled a range of different understandings of light: as a quantitative measure, as an individually perceived aspect of the home environment, as something that enables or disables daily activities, and as a social factor of great importance for social practices. While traditional lighting assessments generally resemble the accessibility approach, with its measures of visual acuity translated into recommendations for an overall lux value, the holistic approach more closely resembles the UD methodology. One finding of this paper is that the concepts of rehabilitation and UD are committed to slightly different levels of abstraction. Rehabilitation focuses on specific individuals and specific environments, with patient rehabilitation as the main goal. UD focuses on user groups and design principles, with design and architectural solutions as the main objectives. While the concepts of UD and HLA represent different fields and different levels of abstraction, the two approaches can enhance both respective practices and theoretical frames.

This case study focuses on caring for a patient living with schizophrenia who has been isolated from the community caused by long-term hospitalization in Japan. Using the philosophical perspective of caring, which focuses on nurturing the wholeness and well-being of persons in caring relationship, the case study illuminates the caring, empathy, and courage among the interdisciplinary team. The purpose of this case study is to discuss the interdisciplinary caring process for patients living with schizophrenia using Carper\'s ways of knowing. Personal knowing is presented through the lens of patients and families and the stigma associated with mental illness. The expression of respect and caring for the patient and their families led by the interdisciplinary team aided in destigmatization of mental illness. Empirical and ethical knowing is demonstrated through the mental health care team\'s delivery of high quality and clinical excellence with competence, compassion and caring. Aesthetic knowing was offered by the interdisciplinary team focused on the patient\'s underlying hopes, dreams and aspirations. Through the support of the interdisciplinary team, patients are able to move toward their goals,hopes and dreams, externalizing tasks, as they grow together through mutual caring. J. Med. Invest. 66 : 15-18, February, 2019.