Multiple Manifestations Research Articles

Cross-modal similar clinical case retrieval using a modular model based on contrastive learning and k-nearest neighbor search

ObjectiveElectronic health record systems have made it possible for clinicians to use previously encountered similar cases to support clinical decision-making. However, most studies for similar case retrieval were based on single-modal data. The existing studies on cross-modal clinical case retrieval were limited. We aimed to develop a CRoss-Modal Retrieval (CRMR) model to retrieve similar clinical cases recorded in different data modalities. Materials and methodsThe publically available Medical Information Mart for Intensive Care-Chest X-ray (MIMIC-CXR) dataset was used for model development and testing. The CRMR model was designed as a modular model containing two feature extraction models, two feature transformation models, one feature transformation optimization model, and one case retrieval model. The ability to retrieve similar clinical cases recorded in different data modalities was facilitated by the use of contrastive deep learning and k-nearest neighbor search. ResultsThe average retrieval precision, denoted as AP@k, of the developed CRMR model, were 76.9 %@5, 76.7 %@10, 76.5 %@20, 76.3 %@50, and 77.9 %@100, respectively. Here k is the number of similar cases returned after retrieval. The average retrieval time varied from 0.013 ms to 0.016 ms with k varying from 5 to 100. Moreover, the model can retrieve similar cases with the same multiple radiographic manifestations as the query case. DiscussionThe CRMR model has shown promising cross-modal retrieval performance in clinical case analysis, with the potential for future scalability and improvement in handling diverse disease types and data modalities. The CRMR model has promising potential to aid clinicians in making optimal and explainable clinical decisions.

Complex antiphospholipid syndrome successfully controlled for 17 years with personalized enoxaparin therapy

Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterized by the presence of antiphospholipid antibodies and venous and arterial thrombotic events, including obstetric complications. We describe the case of a 56-year-old female diagnosed with APS with triple antibody positivity and multiple disease-associated manifestations, namely recurrent purpuric lesions, adrenal insufficiency due to infarction, acalculous cholecystitis, and three spontaneous abortions. Her follow-up was marked by severe thrombotic and haemorrhagic events, notably splanchnic vein thrombosis and haemorrhagic shock after a renal biopsy, as well as the diagnosis of systemic lupus erythematosus 8 years after the APS diagnosis. Chronic anticoagulation with enoxaparin, with dosage guided by anti-factor Xa activity, resulted in stability without complications over 17 years. This case emphasizes the importance of personalized therapeutic strategies and close monitoring in patients with APS.

6610 Emphasizing the evaluation of autonomic dysfunctioncontributes to the diagnosis of ROHHAD Syndrome -- Based on a comparative analysis of two center ROHHAD Syndrome case reports and reported literature

Abstract Disclosure: Y. Wang: None. L. Chen: None. C. Gong: None. Background: ROHHAD is the acronym of rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysfunction, it is an extremely rare and potentially fatal disease.The purpose of this study is to describe the clinical symptoms and timelines of ROHHAD syndrome. Methods: All patients with ROHHAD syndrome were included. Patients from 2007 to2019 published previously was regarded as group 1. We searched for the keyword "ROHHAD" in the PUMBED database, and included all literature describing theclinical symptoms of ROHHAD patients (group 2, from October 2019 to August 2023).We compared and analyzed the above two sets of data with our data (group 3). Results: In the past 2 years, we diagnosed 16 cases of ROHHAD syndrome totally, with a male to female ratio of 8:8. Mean BMI z score was 4.23 ± 1.70, and the age of rapid obesity was 3.17 (1.67, 7.92) years old, ranging from 3 to 22.5 kg/year. The age at which hypoventilation, hypothalamic dysfunction, and autonomic dysfunction occurred was 5.55 (3.61, 8.25) years old, 4.46 (1.83, 9.25) years old, 3.42 (1.83, 8.00) years old, respectively. The most common autonomic dysfunction were cardiovascular manifestations (13 cases), thermal dysregulation and excessive sweating (each with 11 cases). Totally 13 cases had emotional, cognitive and behavioral abnormalities, 7 cases had neurogenic tumors. Case 2 had neurogenic tumors more than 5 years before rapid obesity, cognitive and behavioral abnormalities more than 2 years ago. Case 10 had abnormal pain sensation shortly after birth, and following polyuria in 2 years before rapid obesity. A total of 116 patients including 100 cases previously reported and 16 cases in this study were analyzed. Compared with the incidence rates of rapid obesity, central hypoventilation and hypothalamic dysfunction in patients in this study, there was no statistically significant difference between three groups. Among patients who had autonomic dysfunction (group 1 vs group 2 vs group 3), thermal dysregulation was 65.7% vs 17.0% vs 68.8%, cardiovascular manifestations was NA vs 12.8% vs 81.2%, excessive sweating was 28.6% vs 10.6% vs 68.8%, gastrointestinal disturbances was 11.4% vs 8.5% vs 62.5%, strabismus was 25.7% vs 12.8% vs 62.5%, and sleep disturbance was NA vs 6.4% vs 50.0%, all p< 0.05. The incidence of abnormal emotion, cognition and behavior was NA vs 29.8% vs 81.2% (p<0.05). Conclusion: The incidence of autonomic dysfunction in 16 patients of this study is100%, with multiple manifestations of autonomic dysfunction coexisting. The incidenceof autonomic dysfunction and abnormal emotion, cognition and behavior in reportedcases from different eras were significantly lower than those of our study, indicating theimportance of fully evaluating the autonomic dysfunction and limbic system. Fewpatients may occur tumors or autonomic dysfunction before rapid obesity. Presentation: 6/3/2024

Application of questionnaires in studying the frequency of multiple chemical sensitivity syndrome

BACKGROUND: Multiple chemical sensitivity syndrome is a set of adverse physiological reactions of the human body to exposure to common chemical agents in low doses, which are considered non-toxic to the population. AIM: To study the frequency and characteristics of multiple chemical sensitivity syndrome manifestation using the Russified questionnaire Quick Environment Exposure and Sensitivity Inventory (QEESI). MATERIAL AND METHODS: In the pilot study, 468 people undergoing a preventive medical examination were surveyed (232 men, average age 34.2±9.3 years, and 236 women, average age 42.9±13.8 years). To assess multiple chemical sensitivity, an analysis of three subscales of the Russified validated QEESI questionnaire (chemical intolerance, severity of symptoms, and impact on everyday life) was used. The statistical significance of differences in relative indicators was assessed using the Pearson χ2 criterion. Absolute indicators were presented as M (SD). Relationships and differences in indicators were considered statistically significant at p 0.05. RESULTS: The frequency of multiple chemical sensitivity syndrome was 45.5%, 51.7% of patients had concomitant diseases. The frequency of comorbidities with and without multiple chemical sensitivity syndrome was comparable: allergic diseases — 25.6 vs 17.5%, χ2=3.84, p=0.069; irritable bowel syndrome — 8.1 vs 10.9%, χ2=3.648, p=0.057; migraine — 11 vs 10.5%, χ2=0.642, p=0.424. Multiple chemical sensitivity syndrome was more often detected in women (74.3 vs 25.6%, χ2=5.76, p=0.001) and patients with a sedentary lifestyle (58.3 vs 24.8% χ2=11.9; p=0.01). In patients with multiple chemical sensitivity syndrome, the most common central nervous system complaints were mood lability (26.5 vs 11.3%, χ2=18.936, p=0.003), headaches (27.4 vs 10.5%, χ2=7.555, p=0.006); in the gastrointestinal tract — nausea (13.7 vs 7.6%, χ2=4.826, p=0.029), abdominal pain (10.9 vs 5.5%, χ2=4.178, p=0.041). CONCLUSION: A high frequency of multiple chemical sensitivity syndrome (45.5%) was revealed, which was typical for women and patients with a sedentary lifestyle. Patients with this syndrome significantly more often reported complaints from the central nervous system and gastrointestinal tract.

Update on Behçet syndrome

Behçet syndrome (BS) is avasculitis of variable vessels with multiple organ manifestations. This article gives an overview of innovations in the last 2 years. A literature search was carried out using the keyword "Behcet" in 2022-2024 in PubMed. The selection of suitable articles was based on the relevance. With respect to the pathophysiology it is now clear that BS occupies an intermediate position between autoinflammatory and autoimmune clinical pictures. It is now classified as MHC-I-opathy, i.e., adisease that has astrong association with HLA classI antigens, which also play aprominent role in the pathogenesis. The diagnostic international criteria for Behcet's disease (ICBD) from 2014 with ascore of 4 points or more that makes the diagnosis of BS probable have become established; however, in countries with alow prevalence of BS, the differential diagnosis of BS from other diseases is difficult and ahigher point limit in the diagnostic score seems to make sense in order to avoid incorrect diagnoses. Clusters or phenotypes of the disease have now been described in various countries in which different symptom complexes frequently occur together; however, the clusters differ between the different countries of origin and depending on the age of the patients. Sonography of the common femoral vein with specific wall thickening in BS patients has been established as an additional tool for the differential diagnosis. Typical characteristics of oral aphthae in BS were also described and the frequency of positivity in the pathergy test could be significantly increased using pneumococcal antigens as the reagent. The treatment recommendations of the EULAR from 2018 still apply; in treatment-refractory cases, tocilizumab, secukinumab, Janus kinase inhibitors (JAKi) and ustekinumab have now also been successfully used. The new EULAR treatment recommendations are expected in 2025.

Platelet Indices – Are They Really Biomarkers in Psoriasis? A Cross-sectional Study

Background: Psoriasis is a chronic inflammatory disorder with multiple systemic manifestations in common with other inflammatory disorders. Platelet activation has recently been proposed a major pathogenic factor in psoriasis. Mean platelet volume (MPV) and platelet distribution width (PDW) are considered platelet activation markers. Although there are various inflammatory markers reported to be abnormal in psoriasis, a simple cost-effective and clinically useful marker that could predict the severity of the disease and be used to know about its association with systemic abnormalities and response to treatment is still under study. Aim: The aim of our study was to look at the association of platelet indices with psoriasis and its severity. Methods: This was a single-center cross-sectional study in which 50 patients with psoriasis and 50 apparently healthy age and sex-matched controls who fulfilled the inclusion and exclusion criteria were enrolled after obtaining informed consent. A detailed history was elicited, and a clinical examination was done including anthropometric measurements and calculation of psoriasis area and severity index (PASI). Investigations including hemoglobin, red blood cell (RBC) count, packed cell volume (PCV), mean corpuscular volume, mean corpuscular hemoglobin (MCH), MCH concentration, white blood cell (WBC) and platelet count, plateletcrit, MPV, PDW, and red cell distribution width (RDW) were done. Results: Out of 50 psoriasis patients recruited, 40 (80%) had moderate-to-severe psoriasis, whereas 10 had mild psoriasis (10%) based on PASI scores. In majority of cases, the hemoglobin, PCV, RBC, and WBC counts were within the normal range and were comparable with that of controls. There was no statistically significant difference in the mean values of platelet count, MPV, PDW, plateletcrit, and RDW between cases and controls. There was no significant association between platelet indices and severity of psoriasis. Conclusion: There was no significant association between platelet indices including RDW and the presence or absence of psoriasis in our study. Furthermore, among patients with psoriasis, there was no significant association between platelet indices and severity of the disease.

Confronting the Monster

This essay examines the mail art of artist duo Polvo de Gallina Negra (Maris Bustamante and Mónica Mayer, 1983–93) and artist Magali Lara in 1980s Mexico. It analyzes two specific cases: Polvo de Gallina Negra’s project Carta a mi madre (1987) and a postage stamp by Lara (c. 1980) to argue that both used the possibilities of mail art as a mode of feminist disruption through approaches of play, invention, and surprise, ultimately working to subvert the patriarchal structures that oppress women. However, despite their innovative practices, these female figures continue to receive less attention in art historical scholarship of Mexican mail art and Latin American mail art overall. Furthermore, most scholarship on mail art in Mexico characterizes the conceptual practice as investigations of state surveillance or exercises of freedom under the Partido Revolucionario Institucional. Rather than taking this approach, I suggest that the work in this study looks toward more specific systemic structures that oppressed women under the auspices of modernity. In this sense, while the more recognized Mexican mail artist Ulises Carrión described the target of his mail as “The Big Monster,” we can see how the subversion tactics of Polvo de Gallina Negra and Lara are directed at a similar yet distinct monster: patriarchal control and possession in its multiple, cross-historical, national, and transnational manifestations.

Multi-Path Mechanism of Phytoconstituents in Herbal Remedies for Obesity

Obesity, a metabolic disease with multiple manifestations, has become an epidemic around the world, necessitating efficient and long-term solutions. Since there is an extensive list of phytoconstituents and mechanisms for effective conventional herbal remedies, there has been a lot of focus on potential applications for managing obesity. This study focuses on multiple ways that plant-based compounds in various herbal remedies may help combat obesity. The strategies include modifying adipogenesis, ceasing lipogenesis, accelerating lipolysis, regulating appetite, helping insulin respond more effectively, and altering the gut microbiota. We address the function and clinical evidence of key phytoconstituents from plants like bitter oranges (synephrine), green tea (catechins), and Garcinia cambogia (hydroxycitric acid) in maWe also consider potential complications and explore opportunities for investigating and developing herbal weight loss solutions. We may be able to use plant phytoconstituents as additional treatments or prevent overweight and associated problems by understanding their intricate working methods.

Multimodality of the pedagogical phenomenon of personal developmental educational environment

Introduction. The work examines the personal development educational environment as a pedagogical phenomenon. The purpose of the study is to substantiate the multimodality property of the pedagogical phenomenon of a personal development educational environment and to determine the features of environmental design. The property of multimodality of the personal development educational environment is substantiated based on the relationship of the environment with the dialectics of personal-environmental relationships in education. Materials and Methods. The research is based on philosophical, cultural, sociological and other materials that affirm the environmental paradigm as relevant for self-developing complex systems. The personal development environment is considered as a unique process of student interaction in education, contributing to the formation of the individual’s personal experience. Research methods include methods of formal logic (analysis and synthesis, induction and deduction, comparison and analogy, generalization and others); analysis of pedagogical concepts in the context of the system of guidelines (values) that determine pedagogical thinking. Results. With the development of personality, new ways of interacting with the environment are traced. Moreover, such methods are not directly determined by cause-and-effect relationships with it. The relevance of the developing educational environment and the individual at its various stages of development presupposes the procedural nature of the educational environment, its stages and internal heterogeneity, and a predisposition to transformation. These properties of the educational environment are embodied in its multimodality. Multimodality is a reflection of the dialectics of personality in education: various images and types of environment are determined by the nature of personal-environmental interactions and emerging relationships. Discussion and Conclusions. The design of a personal development environment is carried out through situations in which the components of the environment and the person interacting with it are presented. Personality development is accompanied by the generation of “filling environments.” “Filling environments” in their multiple manifestations are subject-conditioned, personality-generated areas of cognition and transformation of reality, which are the result of personal-environmental interaction. These areas are distinguished by their dynamism and ability to expand in knowledge and activity. The dynamics of personally determined “filling environments” are accompanied by the formation of the student’s personal properties, attitudes towards reality and himself.

Headache in diabetes.

Diabetes can present with multiple manifestations and subjective symptoms. One of these is headache. Headache can be a clinical presentation of diabetes per se, its complications or its comorbidities. It can also point towards certain causes of secondary diabetes, as well as iatrogenic issues. This communication lists the various causes of headache in diabetes, so as to help the clinician keep a high index of vigilance.

Febrile neutropenia induced by adjuvant radiotherapy for a patient with breast cancer accompanied with reversible splenial lesion syndrome (RESLES, TypeI): a case report

BackgroundReversible splenial lesion syndrome (RESLES) is known as a neuro-imaging syndrome with recurrent but reversible lesion of the corpus callosum, characterized by nonspecific but usually mild encephalopathies and specific imaging manifestations.There are few published reports in the field of oncology.Case presentationA 33-year-old female with right breast cancer and with no particular family history was admitted to hospital with high fever and severe headache, after receiving adjuvant radiotherapy. Blood routine test upon admission suggested neutropenia, considering myelosuppression associated with radiotherapy. There were no definite findings of common pathogenic microorganism, and no imaging indication of certain infectious sites other than a likely reversible corpus callosum syndrome suggested by brain MRI, which was relieved after systemic antibiotic therapy and granulocyte colony-stimulating factor injection.ConclusionsReversible splenial lesion syndrome is a kind of clinical-imaging syndrome with multiple clinical manifestations and etiologies. This breast cancer patient after postoperative adjuvant radiotherapy develops a complication of RESLES that rings an alarm bell to the oncologists not to easily recognize the corpus callosum lesion as infarction or metastasis. Meanwhile, the potential pathogenic mechanisms need to be explored further.

A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE

Abstract Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by skeletal fragility. Patients with OI suffer recurrent fractures, limb deformities, and kyphoscoliosis. Multiple extraskeletal manifestations might also be present. Autosomal dominant variants in the COL1A1 or COL1A2 genes account for approximately 90% of cases. Objective The aim of the study was to describe the variant spectrum and genotype–phenotype correlations in patients with OI seen in Tawam Hospital in the UAE. Methods The authors conducted a retrospective chart review for all patients with OI assessed by geneticists at Tawam Hospital from January 2010 to December 2021. They retrieved each patient's baseline characteristics, detailed history and physical examination, laboratory, imaging, and genetic results. Results A total of 40 patients with OI were found and included in this study. The majority (80%) were Emirati, and 57.5% were females. Consanguinity was documented in 24.3%. Thirty-seven patients (92.5%) had positive molecular testing; 28 patients (75.7%) had an autosomal dominant inheritance, and 9 patients (24.3%) had an autosomal recessive inheritance. The majority had missense variants. Four variants were novel. A high prevalence of pathogenic variants in the COL1A1 gene (57%) was found. Patients with variants in the LEPRE1 gene had early and severe phenotypes, while patients with variants in the TMEM38B gene had variable presentations. The majority of patients (85%) had skeletal phenotypes: fractures, bone deformity, scoliosis, and osteopenia. Extraskeletal phenotypes included blue sclera, dentinogenesis imperfecta, hearing loss, and dysmorphic features. Conclusion This study reports the genotype–phenotype correlation of OI patients from the UAE. A high prevalence of pathogenic variants in the COL1A1 gene with OI type IV phenotype was found. Further multicenter more extensive studies are recommended.

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex.

Carney complex (CNC) is a rare, autosomal dominant syndrome, most commonly caused by PRKAR1A gene mutations and characterized by pigmented skin and mucosal changes with multiple endocrine and non-endocrine tumours. This case report highlights the diagnostic challenges associated with CNC in a patient with multiple neoplasms and a complex medical history, including cortisol-producing adrenal adenoma, breast cancer, melanoma, and atrial myxoma. We report the case of a 41-year-old woman with a medical history of left adrenalectomy for cortisol producing adenoma (2005) with no sign of adrenal insufficiency at follow-up, right mastectomy for BRCA1/2 negative carcinoma (2013) and left parotid BRAF-V600E wild-type melanoma (2019), treated with nivolumab adjuvant therapy. In August 2019, following the fifth nivolumab administration, the patient developed central hypocortisolism due to iatrogenic hypophysitis, confirmed by brain MRI and properly treated with oral hydrocortisone. Nivolumab was discontinued due to the patient's decision. In October 2020 and April 2021, the patient had ischaemic strokes, requiring systemic thrombolysis. Echocardiographic examination then revealed a left atrial mass, with histological finding of myxoma. Given the rarity of this neoplasm and the suspicion of a syndromic disorder, a genetic evaluation was conducted, which confirmed a PRKAR1A gene mutation and the diagnosis of Carney complex. This case illustrates the diagnostic challenges in CNC, especially in patients with multiple tumourous manifestations and a wide spectrum of life-threatening clinical presentations. It underscores the importance of a multidisciplinary approach to diagnose and manage rare diseases, improving patient outcomes through timely genetic testing and coordinated care.

Understanding How Indigenous Knowledge Contributes to Climate Change Adaptation and Resilience: A Systematic Literature Review.

Climate change is one of the biggest challenges facing the world today threatening societies and the future of the planet. The impacts of climate change are more severe in poor and marginalised populations like Indigenous communities where people rely heavily on their Indigenous Knowledge (IK) to adapt to the changing environment. Climate change adaptation and resilience are critical for the survival of Indigenous communities under the threat of climate change. This systematic literature review seeks to understand how IK contributes to climate change adaptation and resilience. A total of 71 papers from Scopus were analysed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method. It investigated three research questions: (i) How is IK understood in climate change studies? (ii) What kind of IK is used to address climate change and enhance adaptation and resilience? and finally, (iii) What could be done to maximise the use of IK towards enhancing climate adaptation and resilience? The study found that Indigenous people use IK to predict extreme climatic conditions, prepare for it, and live through it making use of Indigenous adaptation strategies in multiple manifestations. The solutions to maximise the benefits of IK promote two dominant themes requiring more research on IK and climate change with diverse focus areas and the need to bridge it with scientific knowledge. This review provides a starting point for such research that will draw upon IK to enhance climate adaptation and resilience towards meaningful sustainable development.

Anti-OJ antibody-positive anti-synthetase syndrome following SARS-CoV-2 infection: a case report and literature review

BackgroundCOVID-19 can induce a systemic inflammatory response with variable clinical manifestations. Similar to various viruses, COVID-19 has been implicated in the pathogenesis of autoimmune diseases. This article highlights the potential for infections including the SARS-CoV-2 virus to induce exacerbations of pre-existing autoimmune diseases or even potentially unmask de novo autoimmune diseases in particular anti-synthetase syndrome (ASSD) in predisposed individuals. Although there are other case reports of ASSD following SARS-CoV-2 infection, here we present the first reported case of a gentleman with a newly diagnosed anti-OJ positive anti-synthetase syndrome following SARS-CoV-2 infection.Case presentationDescribed is a case of a 70-year-old man presenting to the emergency department with worsening dyspnea in the context of a recent COVID-19 infection. CT-chest revealed changes suggestive of fibrotic lung disease, consistent with usual interstitial pneumonitis (UIP) pattern. Despite recovery from his COVID-19 illness, the patient subsequently developed proximal myopathy with cervical flexion weakness on further assessment with persistently elevated creatinine kinase (CK). Myositis autoantibodies found a strongly positive anti-OJ autoantibody with MRI-STIR and muscle biopsy performed to further confirm the diagnosis. The patient received pulse methylprednisolone 1 g for 3 days with a long oral prednisolone wean and in view of multiple end-organ manifestations, loading immunoglobulin at 2 g/kg administered over two days was given. In addition, he was then commenced and escalated to a full dose of azathioprine given a normal purine metabolism where he remains in clinical remission to this date. At least 267 cases of rheumatic diseases has been associated with SARS-CoV-2 infection as well as COVID-19 vaccination. A literature search on PubMed was made to determine the amount of case reports describing myositis associated with SARS-CoV-2 infection. We found 3 case reports that fit into our inclusion criteria. Further literature searches on diagnostic approach and treatment of ASSD were done.ConclusionAlthough SARS-CoV-2 infection itself can cause a directly mediated viral myositis, this case report highlights the possibility of developing virus-triggered inflammatory myositis through multiple aforementioned proposed mechanisms. Therefore, further studies are required to explore the relationship and pathophysiology of SARS-CoV-2 infection and the incidence of inflammatory myopathies.

Anomalous Behavior of Disease-Inflicting Polymorphic Variants of Nuclear Receptor THRβ of Indian Origin

Thyroid hormone receptor β (THRβ) binds to thyroid hormones to execute various cellular and physiological processes as a ligand-inducible transcriptional factor. THRs, especially THRβ, are key players in the central regulation of the HPT axis. They ensure a delicate balance between thyroid hormone production and feedback control, allowing the body to adapt to changing environmental conditions. Polymorphisms in THRβ can lead to multiple clinical manifestations like resistance to thyroid hormone β, neurological or psychological disorders (like autism, intellectual disabilities, etc), and several types of cancers (papillary thyroid cancer, breast cancer, etc). This study examined two disease-inflicting polymorphic variants of THRβ, P323L, and P453S of Indian origin. It was observed that these variants exhibit impaired subcellular localization patterns, transcriptional functions, and compromised receptor stability. The study provides valuable insight into the cellular mechanism underlying receptor dysfunction and inflicting disease states. It is anticipated that disease-inflicting polymorphic variants of THRβ influence the structural and functional behavior of the receptor, contributing to the onset of disease. A concerted effort to gain the molecular basis of receptor dysregulation will help improve the assessment and management of THRβ-mediated diseases.

How enduring and multi-faceted self-disgust threatens psychological recovery from anorexia nervosa: a qualitative enquiry

PurposeSelf-disgust appears to be a prominent feature in anorexia nervosa (AN), which might help explain why AN is often such a persistent disorder. Little is known about how this emotion can impact on recovering from this disorder. This study aims to develop our understanding of how people experience the emotion of self-disgust after physical recovery from AN.Design/methodology/approachTwelve female participants who reported previously having had a clinical diagnosis of AN but had physically recovered according to their EDE-Q scores took part in a semi-structured interview to explore their experiences of recovery and the role self-disgust played within this. Interpretative phenomenological analysis was used to explore the data.FindingsThree themes were identified within the data to explain the experiences of self-disgust in those with AN: continued self-disgust following physical “Recovery”, multiple manifestations of self-disgust in recovery and increasing self-disgust in recovery as a driver for relapse.Practical implicationsSelf-disgust was something each participant appeared to experience often, despite being physically recovered from AN. Disgust-based reactions to the self are enduring and highly resistant to change even whilst other aspects of the disorder become less potent. Self-disgust is multi-faceted and may trigger relapse as the signs of improvement and behaviours inherent in recovering were generally viewed as disgusting to the individuals.Originality/valueSelf-disgust is an emotion that continues to affect people with AN despite physical recovery. The recovery process itself is not linear and self-disgust is enduring and may cause those affected to relapse. Considering this emotion within therapeutic intervention may encourage those with AN to accept their recovered self.

Improving growth in infants with CF.

Cystic fibrosis (CF) results in chronic pulmonary infections, inflammation, pancreatic insufficiency, and multiple gastrointestinal manifestations. Malnutrition and poor growth are hallmarks of CF, and strongly associated with poor outcomes. Through newborn screening, many infants can be diagnosed within a few days of life, which allows for early initiation of nutritional counseling and close clinical follow-up. Obstacles to growth for infants with CF start in utero, as newborns with CF can have a lower birth weight than the general population. Improving infant growth has been linked to improved clinical outcomes and survival. It remains a top priority and challenge for caregivers and healthcare teams. An interdisciplinary approach, including registered dietitian and social work support, is essential to optimize health for infants with CF. Remaining barriers to normalcy include deficits in linear growth, lack of accurate nutrition biomarkers, persistence of inequities related to social determinant of health, particularly in the global CF community.

Protective effect of modified lange "second position" for developing avascular necrosis following closed reduction for developmental dysplasia of the hip.

Developmental Dysplasia of the Hip (DDH) is a condition affecting hip joint development in children, presenting multiple manifestations. Immobilization methods to ensure hip concentricity, such as the human position and modified Lange position, vary in effectiveness and risks, especially avascular necrosis. The purpose of this study was to identify whether closed reduction (CR), with two different immobilization techniques, is effective in avoiding complications such as residual hip dysplasia (RHD), re-dislocation, and Avascular Necrosis (AVN). A total of 66 patients with DDH (84 hips) were treated with two different techniques of immobilization (groups A and B); the mean age at the time of reduction was 8 (6-13) months. The rates of RHD, Re-dislocation, and AVN were determined with a minimum follow-up of 48 months in both techniques. The Chi-square analysis conducted across the study groups unveiled that patients in Group B demonstrated a protective effect against AVN compared to those in Group A (OR: 0.248, 95% CI: 0.072-0.847, p = 0.026). However, no statistically significant differences were found between the groups concerning RHD (p = 0.563) and re-dislocation (p = 0.909). After the initial Human Position immobilization, the second cast with the modified Lange "second position" demonstrated a protective effect compared with maintaining the Human Position immobilization throughout the immobilization period, reducing the likelihood of AVN development in patients undergoing closed reduction for developmental dysplasia of the hip.

Cushing Disease in a Patient with Double Pituitary Adenomas Complicated with Diabetes Insipidus

Managing a patient with both pituitary hypersecretory and hyposecretory manifestations may be perplexing. We report a 14-year-old female who presented with weight gain, polyuria and polydipsia. Biochemical results were consistent with Cushing disease with central diabetes insipidus. Pituitary magnetic resonance imaging showed right adenoma with stalk thickening. The immunohistochemistry staining of both adenomas was positive for adrenocorticotropic hormone, thyroid stimulating hormone, growth hormone and luteinizing hormone. Postoperatively, the patient developed panhypopituitarism with persistent diabetes insipidus. The coexistence of double adenomas can pose diagnostic and management challenges and is a common cause of surgical failure. Intraoperative evaluation is important in the identification of double or multiple pituitary adenomas in a patient presenting with multiple secretory manifestations.