Undiagnosed Conditions Research Articles

Turning waiting time into treatment time: Weight reduction by a lifestyle intervention programme for patients with obesity before fertility treatment

AbstractAimTo evaluate the effects of offering a clinic‐driven lifestyle intervention programme in the waiting time before fertility treatment to women and men with obesity (body mass index [BMI] ≥ 30 kg/m2).MethodsThis prospective intervention study was conducted at a public Danish fertility clinic. All consecutive patients, both women and men, referred to the clinic between May 2020 and March 2021 with a BMI ≥ 30 kg/m2 were offered a 6‐month lifestyle intervention programme consisting of monthly motivational dialogues and counselling with a certified nutritionist nurse. Weight loss maintenance was evaluated at a 1‐year follow‐up visit conducted 6‐months after completion of the programme. The primary outcomes were absolute weight loss (kg) and relative weight loss (percent compared with weight at inclusion) upon completing the 6‐month programme and at the 1‐year follow‐up. Secondary outcome measures were effects on biochemical metabolic markers.ResultsForty‐five participants were enroled in the study, of which 38 completed the 6‐months lifestyle intervention programme and 33 participated in the 1‐year follow‐up. The participants' mean weight loss was 5.4 kg (95% confidence interval [CI]: 3.3, 7.5) after the 6‐month programme (30 of 38 participants lost weight) and 4.4 kg (95% CI: 1.4, 7.3) at the 1‐year follow‐up compared with baseline. Previously undiagnosed metabolic conditions were revealed in 61% of the participants, including four cases (11%) of undiagnosed diabetes mellitus type 2.ConclusionA clinic‐driven lifestyle intervention programme offered to patients with obesity in the waiting time for fertility treatment can successfully reduce weight in a high number of patients with stable results at 1‐year follow‐ups. Metabolic conditions, including diabetes mellitus type 2, are likely underdiagnosed in this group of patients, but further studies are needed.

Acceptability of an mHealth App for Monitoring Perinatal and Postpartum Mental Health: Qualitative Study With Women and Providers.

Up to 15% of pregnant and postpartum women commonly experience undiagnosed and untreated mental health conditions, such as depression and anxiety, which may result in serious health complications. Mobile health (mHealth) apps related to mental health have been previously used for early diagnosis and intervention but not among pregnant and postpartum women. This study aims to assess the acceptability of using mHealth to monitor and assess perinatal and postpartum depression and anxiety. Focus group discussions with pregnant and postpartum women (n=20) and individual interviews with health care providers (n=8) were conducted to inform the acceptability of mHealth and determine its utility for assessing perinatal and postpartum mood symptoms. Participants were recruited via purposive sampling from obstetric clinics and the surrounding community. A semistructured interview guide was developed by an epidemiologist with qualitative research training in consultation with an obstetrician. The first author conducted all focus group discussions and provider interviews either in person or via Zoom (Zoom Video Communications, Inc) depending on the COVID-19 protocol that was in place during the study period. All interviews were audio recorded with consent; transcribed; and uploaded for coding to ATLAS.ti 8 (ATLAS.ti Scientific Software Development Gmb H), a qualitative data analysis and retrieval software. Data were analyzed using the deductive content analysis method using a set of a priori codes developed based on the interview guide. Methodological rigor and quality were ensured by adopting a systematic approach during the implementation, data collection, data analysis, and reporting of the data. Almost all women and providers had downloaded and used at least 1 health app. The respondents suggested offering short questions in layperson language that could be understood by women of all educational levels and offering no more than 2 to 3 assessments per day at preferred timings decided by the women themselves. They also suggested that the women themselves receive the alerts first, with other options being family members, spouses, or friends if the women themselves did not respond within 24 to 72 hours. Customization and snooze features were strongly endorsed by women and providers to improve acceptability and utility. Women mentioned competing demands on their time during the postpartum period, fatigue, privacy, and the security of mental health data as concerns. Health care professionals highlighted the long-term sustainability of app-based mood assessment and monitoring as an important challenge. The findings from this study show that mHealth would be acceptable to pregnant and postpartum women for monitoring mood symptoms. This could inform the development of clinically meaningful and inexpensive tools for facilitating the continuous monitoring of, the early diagnosis of, and an early intervention for mood disorders in this vulnerable population.

Implementing integrated care clinics for HIV-infection, diabetes and hypertension in Uganda (INTE-AFRICA): process evaluation of a cluster randomised controlled trial

BackgroundSub-Saharan Africa is experiencing a dual burden of chronic human immunodeficiency virus and non-communicable diseases. A pragmatic parallel arm cluster randomised trial (INTE-AFRICA) scaled up ‘one-stop’ integrated care clinics for HIV-infection, diabetes and hypertension at selected facilities in Uganda. These clinics operated integrated health education and concurrent management of HIV, hypertension and diabetes. A process evaluation (PE) aimed to explore the experiences, attitudes and practices of a wide variety of stakeholders during implementation and to develop an understanding of the impact of broader structural and contextual factors on the process of service integration.MethodsThe PE was conducted in one integrated care clinic, and consisted of 48 in-depth interviews with stakeholders (patients, healthcare providers, policy-makers, international organisation, and clinical researchers); three focus group discussions with community leaders and members (n = 15); and 8 h of clinic-based observation. An inductive analytical approach collected and analysed the data using the Empirical Phenomenological Psychological five-step method. Bronfenbrenner’s ecological framework was subsequently used to conceptualise integrated care across multiple contextual levels (macro, meso, micro).ResultsFour main themes emerged; Implementing the integrated care model within healthcare facilities enhances detection of NCDs and comprehensive co-morbid care; Challenges of NCD drug supply chains; HIV stigma reduction over time, and Health education talks as a mechanism for change. Positive aspects of integrated care centred on the avoidance of duplication of care processes; increased capacity for screening, diagnosis and treatment of previously undiagnosed comorbid conditions; and broadening of skills of health workers to manage multiple conditions. Patients were motivated to continue receiving integrated care, despite frequent NCD drug stock-outs; and development of peer initiatives to purchase NCD drugs. Initial concerns about potential disruption of HIV care were overcome, leading to staff motivation to continue delivering integrated care.ConclusionsImplementing integrated care has the potential to sustainably reduce duplication of services, improve retention in care and treatment adherence for co/multi-morbid patients, encourage knowledge-sharing between patients and providers, and reduce HIV stigma.Trial registration numberISRCTN43896688.

Body Dysmorphia and Selfie Behavior of Filipino Patients With and Without Mild Acne Vulgaris: A Descriptive Cross-Sectional Study

Background: Acne vulgaris (AV) is a chronic inflammatory skin condition that is non-life-threatening but may cause significant psychological morbidity regardless of severity. An extreme case of this is depicted in body dysmorphic disorder (BDD), which is often an undiagnosed condition presenting with excessive preoccupation of perceived flaws not observable by others. With the increasing popularity of social media throughout the years, there has been budding researches exploring its psychological implications, particularly on “selfies” and its possible association with self-image and body dysmorphia. Objectives: To compare body dysmorphic symptoms and selfie behavior between patients with mild AV versus those without AV. Methods This is a single-center, cross-sectional study among patients with mild AV and those without AV seen through a teledermatology platform of a tertiary hospital from April to June 2022. Results: A total of 207 patients were included in this study – 107 patients with mild AV and 100 patients without AV. A significantly higher proportion of BDD symptoms was seen in patients with mild AV using either Body Dysmorphic Disorder Questionnaire-Dermatology Version (BDDQ-DV) (31%) and Dysmorphic Concern Questionnaire (DCQ) (14%). No significant difference was noted in terms of selfie behavior between the groups. Conclusions: BDD symptoms were significantly more prevalent in patients who have mild AV despite having lesions that are negligible and clinically not apparent. This highlights the importance of dermatologists’ knowledge that BDD may cause distress and impairment and should be taken into consideration in terms of management. Interestingly, selfie behavior of patients with mild AV and without AV had no significant difference. Key words: Body dysmorphia, acne vulgaris, social media, selfie behavior, cross-sectional

Statin-Associated Muscle Symptoms: Clinical Index in a hypertensive population candidated to lipid-lowering therapy but not taking statins

Aim: Statin-associated muscle symptoms (SAMS) are claimed to be frequent in clinical practice. The SAMS-clinical index (SAMS-CI) assesses the likelihood that muscle symptoms are related to statin use. We evaluated the prevalence and characteristics of muscle symptoms in hypertensive patients eligible for statin therapy according to their individual cardiovascular risk. Methods: Observational study on 390 consecutive outpatients referred to our Centre. All patients were asked the following question: “Have you ever taken a drug/nutraceutical that you think gave you muscle symptoms?”. Patients who answered “yes” were evaluated with SAMS-CI. Results: Mean age: 60.5±13.5 years. Male prevalence: 53.8%. Patients who have ever taken a statin (“statin+” group): 250. Patients who have never taken a statin but have taken at least one other drug (“statin-” group): 140. Prevalence of muscle symptoms did not differ between the groups (p=0.217). Age and number of drugs taken were significantly associated with muscle symptoms at multivariate analysis. A not clinically significant higher SAMS-CI score emerged in the “statin+” group (p=0.004). Localization and pattern of muscle symptoms did not differ between the groups (p=0.170). Timing of muscle symptoms onset after starting the drug (p=0.036) and timing of symptom improvement after withdrawal (p=0.002) were associated with statin therapy. Conclusions: Prevalence of patient-reported muscle symptoms was not associated with statin therapy in our real life clinical study, confirming the growing evidence that subjective muscle-related symptoms are often misattributed to statins, while they may more likely be related to the nocebo/drucebo effect or other common undiagnosed conditions.

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.

Families of children with rare and undiagnosed conditions face many psychosocial and logistical challenges that may affect their approach to decisions about their child's care and their family's well-being. As genomic sequencing (GS) is increasingly incorporated into pediatric diagnostic workups, assessing the family-level characteristics that shape the experience of pediatric GS is crucial to understanding how families approach decision-making about the test and how they incorporate the results into their family life. We conducted semi-structured interviews with parents and other primary caregivers of pediatric patients who were evaluated for a suspected genetic condition and who were recommended to have GS (n = 20) or who had recently completed GS (n = 21). We analyzed qualitative data using multiple rounds of thematic analysis. We organized our thematic findings into three domains of factors that influence the family-level experience of GS: (1) family structure and dynamics; (2) parental identity, relationships, and philosophies; and (3) social and cultural differences. Participants conceptualized their child's family in various ways, ranging from nuclear biological family to support networks made up of friends and communities. Our findings can inform the design and interpretation of preference research to advance family-level value assessment of GS as well as genetic counseling for families.

E054 Rheumatic autoimmune diseases following COVID-19 infection: an observational study in Iraqi Kurdistan Region

Abstract Background/Aims In December 2019, a new type of novel coronavirus (COVID-19) was identified in Wuhan, China. The likelihood of developing an autoimmune and/or rheumatic diseases in COVID-19 survivors is high and a serious matter. The acute SARS-CoV-2 infection may unmask previously undiagnosed rheumatic conditions. We aimed to study rheumatic autoimmune disease manifestations diseases following COVID-19 infection survival. Methods The study was an observational case series study. The data collection was carried out in Iraqi Kurdistan region between the 1st of July 2021 and 20th of March 2022. Seventy-five patients were included: the patients who previously had confirmed COVID-19 infection who developed symptoms of rheumatic autoimmune diseases post COVID-19 cure. The study was conducted via a rigorous evaluation by two rheumatologists. Patients were investigated by (ESR (mm/h) and CRP (mg/L), some autoimmune screen panel for suspecting rheumatological disease patients were sent for ANA, anti-CCP (U/ML) and rheumatoid factor (IU/M) L. Then, patients were diagnosed according to the classification criteria for suspected autoimmune diseases and those with exacerbation were evaluated clinically and by laboratory; rheumatoid arthritis by DAS28, systemic lupus erythematosus by C3, C4. Results A total of seventy-five participants post-COVID-19 infection were enrolled in this study. Age of the participants was 47.15 ±16.18 SD, more of the participants were female (69) out of 75. For most of the patients the ESR were high with p value of 0.012, which was statistically significant. ANA was high titre in SLE patients which was (3.05±2.4) and in antiphospholipid syndrome p-value was significant at 0.042, Anti-CCP were positive in RA patients and in those with exacerbation of RA (44±10, 31.7±5.7 respectively), DAS28 was (4.95±0.59) moderate and high disease activity in patients with exacerbations. C3, C4 were low in patients with exacerbation of SLE (0.47±0.22, 0.03±0.01, respectively). Most of the patients developed symptoms post-COVID-19 between 4-10 weeks (37 participants). Conclusion Rheumatic autoimmune diseases presenting post-COVID-19 survival most commonly were systemic lupus erythematous followed by rheumatoid arthritis. and previous autoimmune diseases presented with exacerbation. Disclosure A.M. Jalal: None. N. Albarzinji: None.

Participation in a national diagnostic research study: assessing the patient experience

IntroductionThe Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about underlying disease mechanisms. UDN evaluations involve collaboration between clinicians and researchers and go beyond what is possible in clinical settings. While medical and research outcomes of UDN evaluations have been explored, this is the first formal assessment of the patient and caregiver experience.MethodsWe invited UDN participants and caregivers to participate in focus groups via email, newsletter, and a private participant Facebook group. We developed focus group questions based on research team expertise, literature focused on patients with rare and undiagnosed conditions, and UDN participant and family member feedback. In March 2021, we conducted, recorded, and transcribed four 60-min focus groups via Zoom. Transcripts were evaluated using a thematic analysis approach.ResultsThe adult undiagnosed focus group described the UDN evaluation as validating and an avenue for access to medical providers. They also noted that the experience impacted professional choices and helped them rely on others for support. The adult diagnosed focus group described the healthcare system as not set up for rare disease. In the pediatric undiagnosed focus group, caregivers discussed a continued desire for information and gratitude for the UDN evaluation. They also described an ability to rule out information and coming to terms with not having answers. The pediatric diagnosed focus group discussed how the experience helped them focus on management and improved communication. Across focus groups, adults (undiagnosed/diagnosed) noted the comprehensiveness of the evaluation. Undiagnosed focus groups (adult/pediatric) discussed a desire for ongoing communication and care with the UDN. Diagnosed focus groups (adult/pediatric) highlighted the importance of the diagnosis they received in the UDN. The majority of the focus groups noted a positive future orientation after participation.ConclusionOur findings are consistent with prior literature focused on the patient experience of rare and undiagnosed conditions and highlight benefits from comprehensive evaluations, regardless of whether a diagnosis is obtained. Focus group themes also suggest areas for improvement and future research related to the diagnostic odyssey.

MP72-15 PREOPERATIVE MEDICAL CLEARANCE: UNVEILING PRIMARY CARE NEEDS AT A PUBLIC URBAN MEDICAL CENTER USING UROLOGIC CASE CANCELATION RATES

You have accessJournal of UrologyCME1 Apr 2023MP72-15 PREOPERATIVE MEDICAL CLEARANCE: UNVEILING PRIMARY CARE NEEDS AT A PUBLIC URBAN MEDICAL CENTER USING UROLOGIC CASE CANCELATION RATES Lauren Fink, Matthew Bruha, Frederick Okoye, Lauren Namkoong, Brian McNeil, and Llewellyn Hyacinthe Lauren FinkLauren Fink More articles by this author , Matthew BruhaMatthew Bruha More articles by this author , Frederick OkoyeFrederick Okoye More articles by this author , Lauren NamkoongLauren Namkoong More articles by this author , Brian McNeilBrian McNeil More articles by this author , and Llewellyn HyacintheLlewellyn Hyacinthe More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003340.15AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Elective surgical case cancelations are a common problem in healthcare, causing patient and staff dissatisfaction, and a financial burden on institutions. Underserved communities have unmet primary care needs, and case cancelations in these populations may reflect chronic disease burdens. We evaluate the role of urologic consultation in improving overall health by identifying undiagnosed or undermanaged conditions during preoperative evaluation METHODS: All canceled elective urologic procedures from two surgeons at one urban center were retrospectively analyzed from 1/2015-12/2019. Chart reviews were performed to obtain reason(s) for cancelation, demographics, medical interventions performed, and American Society of Anesthesiologists (ASA) score pre- and post-operatively. Age-adjusted odds ratio (OR) was calculated for the association between preoperative ASA and medical interventions RESULTS: 1780 total elective cases were scheduled in our review. 551 canceled elective cases were identified with a 30% overall cancelation rate. 250 of those canceled cases were due to >1 undiagnosed or under-managed medical condition(s), representing 14% of the overall cancelation rate. 91.2% of patients were over 60 years old and African American. Notes were available for 111 (44.4%) of the 250 total cases canceled due to undiagnosed or under-managed medical conditions. 83% of these patients received their intended procedures. 35.1% of cases received medication adjustments, most commonly for cardiology and diabetes. Preoperative ASA>3 was found to be significantly associated with medical interventions of any kind (OR 2.6923 [1.1188-6.4788] p=0.0271) CONCLUSIONS: Elective urologic case cancelations were frequent and often related to comorbid conditions. Most patients canceled for medical reasons received optimization and then underwent surgery. ASA scores>3 may assist urologists in underserved urban areas in identifying patients who require medical intervention before elective surgery. Urologic consultation and subsequent preoperative clearance seem to provide a safety net for patients to receive optimization of their medical conditions that otherwise might go unmanaged. Case cancellations can have economic effects, also. Procedure slots are difficult to fill in on short notice. This paired with a high cancelation rate prevents opportunities to generate revenue. Appropriate consultation can eliminate pitfalls by allowing patients to obtain preoperative clearance prior to scheduling their elective cases Source of Funding: SUNY Downstate Medical Center © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e1030 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Lauren Fink More articles by this author Matthew Bruha More articles by this author Frederick Okoye More articles by this author Lauren Namkoong More articles by this author Brian McNeil More articles by this author Llewellyn Hyacinthe More articles by this author Expand All Advertisement PDF downloadLoading ...

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico

OBJECTIVES/GOALS: Diagnostic odyssey is the time it can take to a patient for receiving a diagnosis. Diagnostic process in rare diseases can be complex due to the heterogeneity of symptoms and lack of access to care. We aim to evaluate the association between diagnostic odyssey, perceived stress, and access to care, in parents of Puerto Rican patients with a rare disease. METHODS/STUDY POPULATION: We propose a cross-sectional study in parents of 100 children who received an uninformative whole exome sequencing (WES) report during a scheduled appointment with their geneticist. Discussion of WES results during clinical session, followed by a Perceived Stress Scale (PSS-10) and semi-structured interview to explore the experience of access to care during the diagnostic process will be arranged. Observation and interviews will be recorded. Data analysis and descriptive statistics will be calculated using STATA. Statistical associations (OR) will be estimated using generalized linear models at a 5% significance level. RESULTS/ANTICIPATED RESULTS: We expect to find high perceived stress in parents of Puerto Rican pediatric individuals having rare diseases, especially among single mothers. We will be able to identify limited access to care in Puerto Rico, especially in the testing pre-authorization process and long waits for geneticist appointments. Demand for advanced diagnostics is above the number of medical geneticists available in Puerto Rico, which triggers delayed diagnosis, management, and counseling. Therefore, these could affect the health disparities in our population with rare diseases. DISCUSSION/SIGNIFICANCE: This descriptive study will evaluate perceived stress in parents of pediatric patients living a diagnostic odyssey in Puerto Rico. No study has described perceived stress and access to care in this Hispanic population with undiagnosed conditions. Findings will contribute to a deep understanding of diagnostic process and limited access to care.

A comparative study to assess hypochondrial attitude among nursing and other department students of Eternal University Baru Sahib, Himachal Pradesh

Background: Hypochondrial attitude is a cognitive and thought process in which person lives with the fear that they have some kind of serious illness but undiagnosed condition. The aim of this study was to examine the sample of students in order to assess and compare the degree of hypochondrial attitude among nursing and other department student. Methods: Total sample size was 310, among them 155 nursing student and 155 other department students were recruited through a convenient sampling technique. Online survey was employed using socio-demographical questionnaire and Whiteley index. Results: Among all participants, hypochondrial attitude prevalence is higher among nursing students then other department students. In the present study, mild (55% in nursing students while 65% in other department students), moderate (43% in nursing students while 34% in other department students) and severe (2% in nursing student and 1% in other department students) hypochondrial attitude was assessed. Furthermore, nursing students are significantly associated with hypochondrial attitude. The highly significant association was assessed among age (0.000), academic year (0.000), diagnose with serious illness (0.000) and the significant once was the number of sibling (0.13), personality (0.015), visit to physician (0.005) and fear of getting covid 19 during pandemic (0.002), there was no significant association between demographic variable and hypochondrial attitude in other department students i.e., p<0.01. Conclusions: The conclusion of this study shows that there is higher prevalence of hypochondrial attitude among nursing students. At last it was suggested that counseling and support services are necessary for nursing students.

Catatonia in adolescence: an approach to genetic disorders, autism spectrum and delay of diagnosis

IntroductionCatatonia is a treatable but often undiagnosed condition in children and adolescents. The majority of Pediatric catatonia cases occur at a puberal ages. It is associated with neurodevelopmental disorders. In these cases the diagnosis can be more difficult due to the overlap of symptoms.ObjectivesReport the case of a 11- year - old girl who developed catatonia. She had a previous psychiatry history of intellectual disability, delayed speech and motor slowness. She had a positive Lorazepam challenge test with resolution of the most catatonic symptoms. More studies were completed and according to the clinical history the diagnosis of autistic spectrum disorder was made.Genetic test revealed a Phelan Mc Dermid Syndrom.MethodsA year 11-year-old girl presented to the pediatric emergency department with a 2- days history of worsening anxiety and rigidity, seeming lost and distant. The previous 4 months there was a history of progressive functional and social decline. Her speech was minimal and she required assistance with dressing and feeding. She displayed stereotypias and mannerism. All medical studies were unremarkable. A Lorazepam challenge test (2 mg IV) showed evidence of response. She recovered from catatonia and the basal situation was studied. She was diagnosed of autistic espectrum disorder attending the psychiatric and medical history. Apart from other medical studies, a genetic test showed a mutation in a gene called SHANK 3 according to a Phelan Mc Dermid Syndrom.ResultsPediatric catatonia is associated with neurodevelopmental disorders such as autistic spectrum disorders. There is not always a clear identifiable cause and it is necessary to rule out possible organic causes of pediatric catatonia. The treatment is similar to adults. It is essential to do a complete medical and psychiatric history to an accurate diagnosis such as an autistic spectrum disorder. Genetic testing must be included. In this case, genetics showed a Phelan Mc Dermid Syndrom with a delayed diagnosis. This disorder can cause a wide range of symptoms varying in severity. These symptoms could include global developmental disorders, intellectual disability, delayed speech, autistic spectrum disorders and minor dysmorphic features.ConclusionsIt is crutial to emphasize the high incidence of catatonic symptoms in individuals with Phelan Mc Dermid Syndrome as catatonia often goes unrecognized or undertreated in individuals with developmental disabilities. Significant cognitive and behavioral regression beyond a baseline level of disability has been reported. This case also highlights the relevance of genetic testing in the work of individuals with intellectual disabilities and acute psychiatric illness or regression. Symptoms indicative of catatonia may occur in context of infections, hormonal status and stressful life events. Treatment is centered on the symptoms.Disclosure of InterestNone Declared

A TRANSDISCIPLINARY APPROACH TO THE TREATMENT OF DRY EYE DISEASE IN PATIENTS WITH PSYCHIATRIC DISORDERS

IntroductionDry eye disease (DED) is a multifactorial disease of the tear film and ocular surface representing one of the most common problems in ophthalmological practice and significant public health problem. Characteristic symptoms of DED include gritty, sandy foreign body sensation as well as visual disturbances that have a negative impact on the patient’s daily activities and also affecting patient’s quality of life (QOL).ObjectivesThe objective of this research is to point out the importance of transdisciplinary approach to treatment of dry eye disease in patients with psychiatric disorders.MethodsWe reviewed all current available literature in Pubmed dealing with the topic of connection of dry eye disease and psychiatric disorders.ResultsIn recent years, the relationship between DED and psychiatric disorders has been gaining attention. A number of epidemiological studies have reported a possible association between dry eye and psychiatric disorders showing that the subjective symptoms of dry eye can be affected not only by changes of the tear film and ocular surface but also psychological factors such as anxiety, depression, schizophrenia, post-traumatic stress disorder (PTSP) and subjective happiness. Apart from psychiatric disorders, psychiatric medications are also considered as risk factors for DED due to their influence on the tear film status. The incidence of ocular side effects increases rapidly with the use of polypharmacy, a very common form of treatment used in psychiatry.Mental health disorders may be one of considerable contributing factors for dry eye symptoms and undiagnosed mental health conditions can be an influencing element for unexplained levels of DED symptoms. Depression, anxiety, stress, hypochondriasis, neuroticism, sleep and mood disorders may be associated with the exacerbation of symptoms to degrees that are not consistent with the objective signs related to tear dysfunction as well as changes in the anterior surface of the eye.There is often inconsistency between signs and symptoms of DED, where symptoms often are more related to non-ocular conditions including psychiatric disorders than to tear film parameters. Consequently, in many cases DED may be considered as a psychiatric as well as ophthalmological problem. Psychiatrists and ophthalmologists need to be aware of the potential influence of psychiatric disorders and medications on tear film stability.ConclusionsA detailed medical history, thorough ophthalmological examination and referral to a psychologist or psychiatrist may be essential in the treatment of those patients. In treatment of psychiatric patients, an integrative and transdisciplinary approach will result in better functioning and higher QOL.Disclosure of InterestNone Declared

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Neurodevelopmental disorders (NDDs) have broad heterogeneity both clinically and genetically. Inborn errors of metabolism can be one of the reasons of neurodevelopmental disruption causing specific NDDs. Although there is tremendous advance in molecular identification via next-generation sequencing (NGS), there are still many unsolved patients with NDD. Reanalysis of NGS data with different pipelines can at least partially accomplish this challenge. Herein, we report clinic and genetic components of an adult sib-pair with an undiagnosed NDD condition, which has been solved through reanalysis of whole-exome sequencing (WES). Parallel analysis of SNP-based genotyping and WES was performed to focus on variants only in loci with positive logarithm of the odds scores. WES data was analyzed through three different pipelines with two distinct bed files. Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in the affected sib-pair. Surprisingly, the variant could not be detected in the first analysis as the variant region is not included in the first bed file which mayfrequently beused. Biochemical tests of CSF have confirmed the genetic analysis, CSF folic acid levels were detected low in sib-pair, and intravenous folinic acid treatment improved the disease course for the first 6 months of follow-up even at late diagnosis age. Although combined analysis of SNP-based genotyping and WES is a powerful tool to reveal the genetic components of heterogeneous diseases, reanalysis of genome data still should be considered in unsolved patients. Also, biochemical screening helps us to decipher undiagnosed NDD that may be a treatable neurometabolic condition.

Parental Uncertainty About a Child’s Health Scale (PUCHS): Development and Validation of a Novel Measure

Importance Understanding perceptions of uncertainty among parents of children with chronic conditions—and health care providers’ opportunities to help parents effectively cope—is limited by existing measures. Objective To develop a novel, outcomes-oriented scale to measure parental perceptions of uncertainties about the health of a child. Design, Setting, and Participants Informed by existing literature and interviews with parents, items were generated to capture disease-centered uncertainties (about diagnosis, prognosis, treatment) and patient-centered uncertainties (about familial, reproductive, social, and existential implications). After pilot testing, the Parental Uncertainty About a Child’s Health Scale (PUCHS) was administered in 3 studies assessing parental uncertainty in the context of caring for a child with an undiagnosed medical condition. Data from 2 studies (n = 149) were used to refine the hypothesized measurement model, and data from a third study (n = 417) were used to conduct a confirmatory factor analysis to determine the fit of the resulting measurement model. Results A 4-factor model (diagnostic, therapeutic, familial, social) satisfied overall model fit statistics and structural validity as indicated by standardized loadings, reliability, and variance extracted for each of the constructs. Additionally, each of the constructs satisfied convergent and discriminant validity. These findings across multiple samples in varying contexts suggest that the model demonstrates configural invariance across applications. Conclusions As a valid, reliable measure of parental uncertainties about children with chronic undiagnosed medical conditions, the PUCHS will advance understanding and thereby inform development of interventions to manage uncertainties. Communication of these uncertainties and their effective management are fundamental components of patient-centered care.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

The “diagnostic odyssey” describes the process those with undiagnosed conditions undergo to identify a diagnosis. Throughout this process, families of children with undiagnosed conditions have multiple opportunities to decide whether to continue or stop their search for a diagnosis and accept the lack of a diagnostic label. Previous studies identified factors motivating a family to begin searching, but there is limited information about the decision-making process in a prolonged search and how the affected child impacts a family’s decision. This study aimed to understand how families of children with undiagnosed diseases decide whether to continue to pursue a diagnosis after standard clinical testing has failed. Parents who applied to the Undiagnosed Disease Network (UDN) at the National Institutes of Health (NIH) were recruited to participate in semi-structured interviews. The 2015 Supportive Care Needs model by Pelenstov, which defines critical needs in families with rare/undiagnosed diseases, provided a framework for interview guide development and transcript analysis (Pelentsov et al in Disabil Health J 8(4):475–491, 2015. https://doi.org/10.1016/J.DHJO.2015.03.009). A deductive, iterative coding approach was used to identify common unifying themes. Fourteen parents from 13 families were interviewed. The average child’s age was 11 years (range 3–18) and an average 63% of their life had been spent searching for a diagnosis. Our analysis found that alignment or misalignment of parent and child needs impact the trajectory of the diagnostic search. When needs and desires align, reevaluation of a decision to pursue a diagnosis is limited. However, when there is conflict between parent and child desires, there is reevaluation, and often a pause, in the search. This tension is exacerbated when children are adolescents and attempting to balance their dependence on parents for medical care with a natural desire for independence. Our results provide novel insights into the roles of adolescents in the diagnostic odyssey. The tension between desired and realistic developmental outcomes for parents and adolescents impacts if, and how, the search for a diagnosis progresses.

Exploring the Implications of New-Onset Diabetes in COVID-19: A Narrative Review.

Post-viral new-onset diabetes has been an important feature of the COVID-19 pandemic. It is not always clear if new-onset diabetes is the unmasking of a previously undiagnosed condition, the acceleration of prediabetes, or new-onset diabetes that would not have otherwise occurred. Even asymptomatic cases of COVID-19 have been associated with new-onset diabetes. Diabetes that emerges during acute COVID-19 infection tends to have an atypical presentation, characterized by hyperglycemia and potentially life-threatening diabetic ketoacidosis. It is not always clear if new-onset diabetes is type 1 or type 2 diabetes mellitus. Many cases of COVID-associated diabetes appear to be type 1 diabetes, which is actually an autoimmune disorder. The clinical course varies temporally and with respect to outcomes; in some cases, diabetes resolves completely or improves incrementally after recovery from COVID-19. Disruptions in macrophagy caused by COVID-19 infection along with an exaggerated inflammatory response that can occur in COVID-19 also play a role.Those who survive COVID-19 remain at a 40% elevated risk for diabetes in the first year, even if their case of COVID-19 was not particularly severe. A subsequent post-pandemic wave of new diabetes patients may be expected.

Analysis of Factor Influencing Delayed Referral of Undescended Testis

BACKGROUND: The rate of delay in the referral of patients with undescended testis (UDT) to health facilities in Indonesia is still relatively high due to delays in the handling of urological surgery. Hence, it requires rapid and appropriate identification and early detection of patients with UDT in the community. AIM: The study aims to analyze the factors of delay in referral in cases of UDT management. METHODS: This study used a cohort design with a retrospective review approach to analyze various factors that cause delays in referring patients with UDT. Collecting identification was done by tracing UDT case-patient documents from January 2016 to November 2021. Data analysis used the Mann–Whitney and Chi-square comparison test, with significance achieved if the p < 0.05. RESULTS: Delay by doctors/paramedics who were not followed up, ignorance of the risk of delaying surgery, and undiagnosed UDT by parents/health-care providers showed a significant difference where the percentage of patients who were delayed was greater on these factors. In addition, the reference source is also known to have a significant difference with a significant value (p < 0.005). CONCLUSIONS: Factors that played a significant role in the delay in operative procedures for treating UDT were delays in referral from doctors (p < 0.025) (primary care physicians and pediatricians) and undiagnosed UDT conditions in patients (< 0.005).

DO WE RECOGNIZE RESTLESS GENITAL SYNDROME AND DO WE KNOW HOW TO TREAT IT?

The following presentation introduces a case of a patient with the restless genital syndrome. This is a rare, usually undiagnosed condition, in which significant organ damage and/or dysfunction is absent, the finding is defined as functional and the patient is referred for treatment of his neurosis in a psychiatric practice. The complaints include feeling of arousal and tingling in the genital area, which is not accompanied by subjective sexual arousal and is a harrowing experience for the patient. Masturbation and sexual activity do not manage to affect the symptoms. Symptoms of restless leg syndrome are often involved too, which puts the hypothesis for a common etiology of both of the syndromes that is associated with the dopaminergic mediation. In the literature, there are individual cases of patients with the syndrome, who have been administrated treatment with pramipexole. The patient in the present case report has also undergone treatment with pramipexole and has been observed for a period of two years.

ЄВРОПЕЙСЬКА КОНФЕРЕНЦІЯ З РІДКІСНИХ ЗАХВОРЮВАНЬ ТА ОРФАННИХ ПРЕПАРАТІВ 2022: МІСІЯ МОЖЛИВА

At the current stage of the development of medicine, the category of rare diseases includes nosological subtypes with a clear clinical picture, diverse in etiology and severity of the clinical course, as well as undiagnosed idiopathic conditions, which have the main feature – rare prevalence, determined by the epidemiological threshold. This year, the 11th edition of the European Conference on Rare Diseases and Orphan Products (ECRD) 2022, organized by EURORDIS and ORPHANET, took place in Belgium from June 27 to July 1. The main slogan of this event is the possibility of implementing the management of rare diseases. ECRD 2022 was an unparalleled opportunity to network and share invaluable knowledge with hundreds of stakeholders in the rare disease community – patient advocates, policy makers, researchers, clinicians, healthcare professionals, European health leaders, scientists, regulatory bodies. Special attention of this event was devoted to the problem of rare diseases, their neonatal screening, availability of personalized treatment of orphan diseases in Ukraine.