Rare Health Condition Research Articles

Ravulizumab for adults with generalized myasthenia gravis: a plain language summary of three studies.

Generalized myasthenia gravis (often shortened to gMG) is a rare health condition that causes muscular weakness. This summary gives an overview of three published articles that report the results of research studies of a medicine called ravulizumab, a treatment approved for adults with gMG. These studies are: The CHAMPION MG study. The CHAMPION MG extension study. A study of how the body processes and responds to ravulizumab (known as pharmacokinetics and pharmacodynamics). These studies looked at how effective and safe ravulizumab is for; people with gMG. Overall, participants with gMG who received ravulizumab showed a significant and rapid improvement in their muscle strength and ability to do daily activities. These improvements were sustained for up to 60weeks of treatment. Ravulizumab was well-tolerated overall, and no-one in the study had a meningococcal infection (a type of bacterial infection preventable with vaccination). Results from the pharmacokinetic and pharmacodynamic study support the use of ravulizumab every 8weeks to maintain improvements in gMG. Ravulizumab can be considered as a treatment option for adults with gMG who are appropriately protected against meningococcal infection before starting treatment. The drug, administered every 8weeks, improves muscle strength and daily performance. These positive effects have been observed to persist over a long period of time.

Review of literature and clinical practice experience for the therapeutic management of Morgellons disease.

Morgellons disease (MD) is a rare and contentious health condition characterized by dermatological symptoms including slow-healing skin lesions 'attributed' to fibres emerging from or under the skin. Patients also report sensations of crawling, biting and infestation with inanimate objects. This review examines the aetiology, patient characteristics, epidemiology, historical context, correlation with Lyme disease, role of internet, impact on quality of life and treatment approaches for MD. Despite ongoing debate, MD is not officially recognized in medical classifications, with differing views on its aetiology. Some link MD to Lyme disease, while others view it as a variant of delusional infestation. The literature suggests both psychiatric and environmental factors may contribute. The manuscript explores the association with substance abuse, psychiatric comorbidities, infectious agents and the role of internet communities in shaping perceptions. MD's impact on quality of life is significant, yet often overlooked. Treatment approaches are varied due to limited evidence, with low-dose antipsychotics being considered effective, but patient beliefs may influence adherence. A patient-centred, multidisciplinary approach is emphasized, considering both the physical and psychological dimensions of MD. Addressing the controversies surrounding MD while focusing on patient well-being remains a critical challenge for healthcare professionals.

Out of sight, out of mind: When and how perceived vulnerability decreases foreseeability and responsibility for causing harm in the marketplace.

Numerous social categories are often seen as vulnerable to harm. In the context of firms causing harm to individuals, we seek to better explain when and why observers absolve firms of responsibility as opposed to holding them more accountable. We propose that when someone's identity is thought to make them vulnerable to harm, identity visibility (how observable the identity is) and frequency (how common the identity is) influence the perceived foreseeability of a harmful event and firm responsibility. Across five studies (total N = 2,101), we find that when visibility and frequency are low, perceptions of foreseeability decrease, in turn decreasing firm responsibility. We illustrate how visibility and frequency, and in turn foreseeability, can vary based on the characteristics of the individual being observed (e.g., the visibility or rarity of a health condition) or context (e.g., an otherwise visible identity may be invisible in an online service context). Foreseeability and firm responsibility increased when the harmed individual's rare health condition was reframed to communicate the firm's likelihood of interacting with any individual with the same health condition. Implications for consumer welfare, policy, and inclusivity are discussed. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Nursing role in early detection of cardiac amyloidosis: a case report

Cardiac amyloidosis (CA) is a rare health condition that occurs due to amyloid deposits in the heart's tissues, it causes restrictive cardiomy-opathy, which leads to heart failure and death. This report discusses a case of 72-year-old Saudi male known case of hypertension, diabetes mullets, left ventricular dysfunction, and chronic kidney dysfunction presented to hospital with shortness of breath, paroxysmal nocturnal dyspnea, and orthopnea. Patient's physical examination revealed jugular vein distention, generalized pitting edema and abdominal distension. Echo image exhibited abnormal myocardial texture with moderate global hypokinesia, left ventricular D shape, and thickened interatrial sep-tum. CA diagnosis is complex, and its diagnostic accuracy is relatively limited. Delay in CA diagnosis continues to challenge clinicians, which has adverse effects on patient's quality of life, and mortality rate. Underdiagnosis mainly because disease has nonspecific symptoms which often associated with poor prognosis. To aid in early diagnosis and treatment, nurses should be aware about symptoms, diagnostic approach, and disease progression of CA.

Quality of Life and Experienced Distress of Patients Suspected of having a Rare (Chronic) Health Condition - Initial Findings from the ZSE-DUO Study

Patients suspected of having a rare (chronic) health condition have often gone a long way within the healthcare system. To date, little is known about the health-related quality of life of this group of patients. The study aims to describe the health-related quality of life and the perceived distress of patients suspected of having a rare (chronic) health condition and compare the results with standard values of the German population. Eighty patients suspected of having a rare (chronic) health condition were recruited in the nationwide intervention study "ZSE-DUO" and reported their health-related quality of life and perceived distress using the SF-8 and the Distress-Thermometer. The patients rated all eight dimensions of quality of life as well as the physical and mental component scores of the SF-8 significantly lower than the general population. On average, the perceived distress was rated significantly higher. More than 90% of the sample indicated distress in the clinical range. Exhaustion, pain, limited mobility as well as worries and fears were mentioned most frequently as concrete problems, with percentages ranging from 73% to 90% of the total sample. In comparison to German reference data, patients suspected of having a rare (chronic) health condition report a massive impairment of their quality of life and a high burden, which is especially characterized by physical and emotional problems. The lack of a diagnosis could explain the high proportion of emotional problems, as it can create a form of legitimation of one's own disease experience. The present results underline the need for research on the psychosocial impact of the possible presence of a rare (chronic) health condition. The high distress and the impact on the physical and psychological quality of life domains also highlight the need for care in this patient group.

The lived experience of adults and parents: Transitioning from paediatric to adult health care with oesophageal atresia and tracheo-oesophageal fistula.

To explore the experience of healthcare transition from paediatric to adult health care for adults born with oesophageal atresia and tracheo-oesophageal fistula (OA/TOF) and parents. OA/TOF is a rare and chronic health condition that can require lifelong medical follow-up and management. There is evidence to suggest that transitioning from paediatric to adult health care can be problematic for people with rare and chronic conditions, including OA/TOF. The previous literature suggests that the experience of transitioning with a rare condition is more complex than transitioning with a common chronic condition. The current study was a qualitative, cross-sectional, survey-based study. Data were collected through an online survey. Parents of children born with OA/TOF (n=23) and adults born with OA/TOF (n=16) were recruited through a UK-based OA/TOF patient charity. Data from six open-ended questions were analysed using a hybrid approach combining elements of inductive and deductive thematic analyses. Throughout the research process, the SRQR were followed. Five themes were constructed during the analysis, reflecting the experience of parents and adults transitioning from paediatric to adult health care: thrown into the unknown; a cultural shift; stepping back and stepping up; 'no transition as such'; and living with uncertainty. The findings suggested that a formalised, managed healthcare transition is not commonly experienced by people born with OA/TOF and parents. We recommend a formalised healthcare transition process in OA/TOF, including preparation for transition and having a named key worker to manage the multidisciplinary transition process. The results also highlighted the need for adults born with OA/TOF to have access to a specialist health service with knowledge and understanding of issues related to OA/TOF.

A Novel Generation of Polysulfone/Crown Ether-Functionalized Reduced Graphene Oxide Membranes with Potential Applications in Hemodialysis.

Heavy metal poisoning is a rare health condition caused by the accumulation of toxic metal ions in the soft tissues of the human body that can be life threatening if left untreated. In the case of severe intoxications, hemodialysis is the most effective method for a rapid clearance of the metal ions from the bloodstream, therefore, the development of hemodialysis membranes with superior metal ions retention ability is of great research interest. In the present study, synthetic polysulfone membranes were modified with reduced graphene oxide functionalized with crown ether, an organic compound with high metal ions complexation capacity. The physico-chemical characteristics of the composite membranes were determined by FT-IR, Raman, XPS and SEM analysis while their efficiency in retaining metal ions was evaluated via ICP-MS analysis. The obtained results showed that the thermal stability of reduced graphene oxide was improved after functionalization with crown ether and that the presence of the carbonaceous filler influenced the membranes morphology in terms of pore dimensions and membrane thickness. Moreover, the ability of Cu2+ ions retention from synthetic feed solution was up to three times higher in the case of the composite membranes compared to the neat ones.

Sampling strategies for proportion and rate estimation in a spatially correlated population

Conventional sampling theory is widely used in environmental and health hazard assessment. However, spatial sampling techniques are among the most efficient methods when sampling units are spatially correlated. Spatial sampling has been introduced and used for population mean estimation. In addition, few works have also been focused for the population proportion estimation. However, in many health-related data applications, we are interested to also know the proportion of non-rare specific health condition (e.g. asthma) or rate of rare specific health condition (e.g. cancer) in each small area rather than overall population to inform public and policy-makers to focus on areas which are most in need. In this paper, we develop design-based and model-based approaches for overall and area-specific proportion and rate estimation. In particular, we expand dependent unit sequential technique method on model-assisted (ranked set sampling) and model-based (small area estimation) approaches which are more efficient than the sampling methods originated from simple random sampling. We evaluate the performance of proposed approaches using stimulation studies and also by a real data application on teen birth rate in Georgia, USA.

A thematic analysis exploring the psychological well-being of adults born with esophageal atresia

BackgroundLiving with a rare and chronic health condition can have a significant impact on psychological well-being and mental health. There is a growing understanding that Esophageal Atresia (EA), a rare birth defect often accompanied by a Trachea-Esophageal Fistula (TEF), is a complex health condition that requires lifelong medical attention beyond pediatric care into adulthood. Given the reciprocal relationship between one's physical and psychological well-being, the aim of this study was to develop a better understanding of the mental health of adults born with EA/TEF. MethodsAn international online survey was designed and disseminated in collaboration with an EA/TEF patient charity. The qualitative data was analyzed using a reflexive and inductive Thematic Analysis to explore the research question “How can being born with EA/TEF affect psychological well-being in adulthood?” ResultsA total of 92 adults born with EA/TEF completed the online survey from 11 different counties. Five themes were generated during the analysis: ‘Negative Experience with Healthcare Professionals’, ‘The Perception of Surgical Scars’, ‘The Psychosocial Consequences of Dysphagia’, ‘The Legacy of Medical Trauma’, and ‘Resilience in the Face of Adversity’. ConclusionThe results indicated that adults born with EA/TEF might face emotional challenges that can negatively affect their psychological well-being and mental health. It was also found that some adults born with EA/TEF demonstrate resilience through positive reappraisal of adverse experiences. The current study suggests that a multidisciplinary approach to the care of adults born with EA/TEF is necessary and directions for future research are discussed.

Rare health conditions 35: issues of anxiety resulting from a diagnosis of a rare health condition and the value and implications of genetic testing

The purpose of this series is to briefly highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000 and many healthcare assistants and nurses will encounter some of these conditions, given the high number of these conditions. This 36th article will briefly explore the issues of anxiety resulting from a diagnosis of a rare health condition and the value and implications of genetic testing.

Rare health condition 28: Ehlers-Danlos syndrome; Alpers disease; prevalence and incidence

The purpose of this series is to highlight a range of rare health conditions: those that affect no more and usually fewer than 1 person in every 2000. Many healthcare assistants and nurses will encounter some of these conditions, given the high number of them. This 28th article will briefly explore two of these conditions—Ehlers-Danlos syndrome (EDS) and Alpers disease—as well as the meaning of and similarities and differences between ‘incidence’ and ‘prevalence’.

Rare health conditions, 22: mental health consequences and the impact of living with a rare health condition; Rare Disease Day; trench foot

The purpose of this series is to highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually less than 1 person in every 2000. Many healthcare assistants (HCAs) and nurses will encounter some of these conditions, given the high number of them. conditions. This 22nd article will explore the mental health consequences and impact of living with a rare health condition; and celebrate the annual ‘Rare Disease Day’.

Courtesy Stigma and Social Support: An Exploration of Fathers’ Buffering Strategies and Blocking Rationalizations

ABSTRACTThis study extends scholarship on stigma management communication and social support by exploring the experiences of fathers of children living with a rare health condition, Sturge-Weber Syndrome. Findings from this interview-based interpretive study reveal that fathers assuaged the negative effects of stigma on their children—and courtesy stigma on themselves—by employing buffering strategies, including reactive and preemptive information sharing, preparatory conversations, and support blocking. Further, fathers offered three rationalizations for their blocking behaviors—reasoning that to accept support would violate social norms, as well as privacy expectations and that accepting support was not worth the effort (social exchange). These findings encourage scholars to continue to upend predominant constructions of masculinity and also call to question prevailing assumptions about the relationship between technology and privacy.

Living with a rare health condition: the influence of a support community and public stigma on communication, stress, and available support

ABSTRACTPeople affected by rare diseases often have limited coping resources and sometimes face stigma. They build communities with others who share their conditions, but not all members may benefit from these communities. This study investigated how adults with a rare genetic health condition (Alpha-1 antitrypsin deficiency; AATD) think about both the Alpha-1 community and public stigma about AATD, and how these cognitions predict their communication responses and well-being. The results showed that people with AATD-encountered stigmatization from various sources. Stronger public stigma predicted more secrecy, more stress, and less available support. Stronger group identification with the Alpha-1 community predicted less secrecy; stronger group activism predicted more available support and more communication to challenge stigmatizers. Post hoc analyses showed significant interactions between public stigma and group cognitions on communication to challenge stigmatizers. Practical implications for bolstering communities to improve the well-being of people with rare diseases were discussed.

A Case Study of Multi Drug-Resistant Tuberculosis (MDR-TB), HIV and Diabetes Mellitus (Dm) Comorbidity: Triple Pathology; Challenges and Prospects

Tuberculosis (TB), diabetes mellitus and HIV co-morbidity is a rare and interrelated health condition with associated high morbidity and mortality especially in developing countries with high prevalence of TB. It has become an emerging concern to epidemiologists and TB control programs due to complexities in its control and management. Managing MDR-TB, DM and HIV comorbidity is challenging, with risk of unfavorable outcome; consequently, close monitoring is necessary. Individuals with weak immunity resulting from diseases such as uncontrolled Diabetes Mellitus (DM) and HIV have a higher risk of developing TB or progression from latent to active TB. We present a 65-year old known diabetic patient who presented to Royal Cross Hospital Ugwueke Abia State, Nigeria with a one-year history of recurrent productive cough with associated night sweats, low grade fever and marked weight loss. A diagnosis of drug-resistant TB with DM/HIV co-morbidity was made and co-managed by experts from the respective clinics and the State TB control program. The patient was declared cured (7 months consecutive negative cultures each taken 30 days apart) after completing 20 months of conventional MDR-TB treatment. The patient showed remarkable clinical improvement including weight gain, good diabetic control and significant increase in CD4 (700 cells). Managing MDR-TB patients with diabetes and HIV is challenging, however, appropriate treatment, psychosocial support, adequate blood sugar control as well as monthly monitoring of patients with requisite investigations are vital in achieving good treatment outcome.

Trastuzumab-Induced Systemic Capillary Leak Syndrome in a Breast Cancer Patient

Systemic capillary leak syndrome (SCLS) is a rare health condition. It is characterized by recurrent episodes of generalized edema and severe hypotension along with hypoproteinemia. The condition is under recognized because of its nonspecific signs and symptoms, and high mortality rate. SCLS triggered by trastuzumab, a target drug for Her2-positive breast cancer patients, has not been previously reported. A 59-year-old Chinese woman, diagnosed with breast cancer with accompanying liver and bone metastasis, was treated with 3 cycles of docetaxel with capecitabine and a regimen of 12 cycles of capecitabine with trastuzumab. The patient developed systemic capillary leak syndrome during the 16th cycle of chemotherapy. Post-diagnosis treatment regimen is also presented in the current case report. SCLS has been previously observed in breast cancer patients. However, SCLS incidence post-chemotherapeutic treatment with trastuzumab has not been reported elsewhere. Hence, our report highlights the need for rigorous investigation of the side effects of trastuzumab usage and the increasing need of insightful diagnosis to manage any incidence of SCLS. The case provides valuable experience for treating the uncommon adverse effects of trastuzumab in Her2-positive breast cancer patients.

Online Information Exchanges for Parents of Children With a Rare Health Condition: Key Findings From an Online Support Community

BackgroundThe Internet provides new opportunities for parents of children with difficult illnesses and disabilities to find information and support. The Internet is particularly important for caregivers of children with special needs due to numerous health-related decisions they face. For at-risk populations, online support communities can become key settings and channels for health promotion and communication.ObjectiveThis study is an initial exploration of the information-seeking and information-provision processes present in an online support community, which is an area of opportunity and interest for Internet-based medical research and practice. The aim of this study was to explore and describe information-related processes of uncertainty management in relationship to clubfoot. Specifically, the study explored interpersonal communication (information seeking and provision) in an online support community serving the needs of parents of children with clubfoot.MethodsThe study population consisted of messages posted to an online community by caregivers (parents) of children with clubfoot. The theoretical framework informing the study was the Uncertainty Management Theory (UMT). The study used content analysis to explore and categorize the content of 775 messages.ResultsWomen authored 664 of 775 messages (86%) and men authored 47 messages (6%). Caregivers managed uncertainty through information seeking and provision behaviors that were dynamic and multilayered. The ratio of information-seeking messages to information-provision responses was 1 to 4. All five types of information-seeking behaviors proposed by Brashers’ schema were identified, most of them being correlated. Information seeking using direct questions was found to be positively correlated to self-disclosure (r=.538), offering of a candidate answer (r=.318), and passive information seeking (r=.253). Self-disclosure was found to be positively correlated to provision of a candidate answer (r=.324), second-guessing (r=.149), and passive information seeking (r=.366). Provision of a candidate answer was found to be positively correlated with second-guessing (r=.193) and passive information seeking (r=.223). Second-guessing was found to be positively correlated to passive information seeking (r=.311). All correlations reported above were statistically significant (P<0.01). Of the 775 messages analyzed, 255 (33%) identified a medical professional or institution by name. Detailed medical information was provided in 101 (13%) messages, with the main source of information identified being personal experience rather than medical sources.ConclusionOnline communities can be an effective channel for caregivers, especially women, to seek and offer information required for managing clubfoot-related uncertainty. To enhance communication with parents, health care institutions may need to invest additional resources in user-friendly online information sources and online interactions with caregivers of children with special illnesses such as clubfoot. Furthermore, explorations of information-seeking and information-provision behaviors in online communities can provide valuable data for interdisciplinary health research and practice.

Social exclusion and myiasis of the upper lip in a Brazilian rural resident

People living in rural or remote Brazil, as in other sub-tropical or tropical nations, are vulnerable to infections that would not normally occur in urban areas or wealthier nations. Brazil is a geographically extensive nation, historically marked by vast socioeconomic inequalities. Approximately 16% of the population live in rural areas. This clinical case report demonstrates the vulnerability of rural residents who are underserved by Brazil's 'universal' public healthcare system, despite social and economic challenges that increase their risk for disease. Myiasis (especially oral myiasis) is a rare health condition in humans caused by fly larvae. Oral myiasis usually appears in periodontal pockets and open wounds, such as after dental extractions. It is associated with poverty, lack of access to health care, and very poor overall health status. While myiasis has a worldwide distribution, it is particularly associated with the tropical and sub-tropical regions of North and South America. This article describes a rare case of myiasis in the upper lip of a rural male patient. The case report demonstrate that rural and remote residents can be socially excluded from the benefits of technology and biomedicine, making them vulnerable to rare infections.

Preliminary validation of a hope scale for a rare health condition using web-based methodology

An evaluation of a health condition-specific hope scale adapted from the more general dispositional Hope Scale (Snyder et al., 1991) is provided. Participants (N = 202) with a rare, debilitating, and potentially stigmatising health condition were recruited from readers of the Anal Fissure Self Help Page. Data were gathered anonymously using an online survey linked to the website. Consistent with hope theory, this new measure yielded a pathways factor (perceived capacity to find ways to achieve desired goals) and an agency factor (perceived motivation to pursue goals energetically). Respondents with stronger pathways thoughts reported greater benefits from website information for understanding and generating strategies for managing anal fissures. Stronger agency beliefs were related to more frequent website visits, more rereading of first-hand patient accounts, and shorter duration of fissure symptoms. Results offer preliminary support for validity of this scale and for using web-based methodologies to study conditions, such as anal fissure.