Rare Health Conditions Research Articles

Rare health conditions 33: lambdoid synostosis, traumatic retrograde amnesia and malaria

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 less than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of these conditions. This 33rd article will explore three of these conditions: lambdoid synostosis, traumatic retrograde amnesia and malaria.

Rare health conditions 32: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE)

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 fewer than 1 person in every 2000 and many healthcare assistants (HCAs) and nurses will encounter some of these conditions, given the high number of them. This 32nd article will explore four of these conditions: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE).

Rare health conditions 32: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE)

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 fewer than 1 person in every 2000 and many healthcare assistants (HCAs) and nurses will encounter some of these conditions, given the high number of them. This 32nd article will explore four of these conditions: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE).

Rare health conditions 31: infantile neuroaxonal dystrophy, progressive hemifacial atrophy, acquired prosopagnosia; and offering emotional and psychological support

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 fewer than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of them. This 31st article will explore three of these conditions, as well as offering a brief discussion on meeting the emotional and psychological needs of the person.

Categories of Information Need Expressed by Parents of Individuals with Rare Genetic Disorders in a Facebook Community Group: A Case Study with Implications for Information Professionals

Costello syndrome is a rare genetic disorder that affects virtually all aspects of an individual’s life. Few specialists have been trained to understand the condition and provide guidance to caregivers and virtually no traditional information sources (e.g. books, websites) exist to provide information to caregivers. In this case, the community becomes a major source of information for caregivers of individuals with this condition. This study examines the types of information that need to be expressed in one of these communities: an online Facebook group. The categories of information need to be identified in the study to demonstrate areas of concern to caregivers and offer areas for further research or publication for researchers of rare disorders and health conditions. The role of information professionals in satisfying these information needs of caregivers of individuals with Costello syndrome and other rare disorders.

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Abstract Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were learning to read/write, listening and performing multiple tasks. In self-care, the main limitations were in drinking, taking care of body parts and taking care of one's health. Also, there were restrictions on doing household tasks, basic economic transactions, community living and religion and spirituality. Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.

Rare health conditions 30: information, support groups and health education

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 fewer than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of these conditions. This 30th article will briefly explore three key roles of the HCA in meeting care needs: information, support groups and health education.

SURVEILLANCE PROGRAM IDENTIFIES HEALTH OUTCOMES FOR FORMER WORKERS

According to the US Bureau of Labor Statistics, the average age of retirement is 62. While many retirees may have employer-provided or other access to healthcare, others have limited access to affordable care until full Medicare eligibility at 65. Regardless of access, retirees with toxic occupational exposures may not have providers with specialized knowledge of tests or diagnoses for exposure-related health conditions, especially those with long-latency. The National Supplemental Screening Program for U.S. Department of Energy Former Workers is described here as a nationwide program providing recurring (every 3 years) integrated health screenings designed to identify both occupational and non-occupational conditions in the context of exposure so that early identification can enable appropriate and timely diagnoses and treatments to improve health outcomes. Since September 2005, there has been 18,518 initial exams for former workers, of whom 5,461 returned for rescreening exams through April 2019. The average age of those returning was significantly younger at initial exam (63.4 years) compared to those who did not return (65.1 years). The most common occupational condition was noise-induced hearing loss not attributable to natural, age-related loss (67%). Rare and long-latency occupational health conditions, such as asbestosis or silicosis, were identified at rates expected (1-4%). The most common non-occupational condition was elevated body mass index (BMI>25, 77.3%), followed by hypertension (20.7%), of which 50% had no prior knowledge or clinical diagnosis. In conclusion, occupational health surveillance programs can provide value for identifying non-occupational health conditions and as a supplementary source of health information and care.

Rare health conditions 29: serpiginous choroiditis, haemolytic-uraemic syndrome, Kallman syndrome, Fabry disease

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 29th article will briefly explore four of these rare conditions.

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 condition 27: Mayer-Rokitansky-Küster-Hauser syndrome; and the role of informal caregivers

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 and many HCAs and nurses will encounter some of these conditions, given the high number of them. This 27th article will explore one of these conditions—Mayer-Rokitansky-Küster-Hauser syndrome—and the role and support needs of the ‘informal’ family caregiver.

Rare health conditions 26: fatal familial insomnia, Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome

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 less than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions given the high number of these conditions. This 26th article will explore three of these rare conditions.

Rare health conditions 25: Bardet-Biedl syndrome, Kearns-Sayre syndrome, De Clérambault's syndrome

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 less than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions given the high number of these conditions. This 25th article will explore three of these conditions.

Rare health conditions 24: Severe combined immunodeficiency (SCID), papilloedema, spondylothoracic dysostosis (STD)

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 HCAs and nurses will encounter some of these conditions, given the high number of these conditions. This 24th article will briefly explore three of these conditions.

Rare health conditions 23: Behçet's disease, Mayer Rokitansky Küster Hauser (MRKH) syndrome and Wilson's disease

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 them. This 23rd article will explore three of these conditions: Behçet's syndrome; Mayer Rokitansky Küster Hauser syndrome (MRKH); and Wilson's disease.

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’.

Rare health conditions 21: Moebius syndrome, juvenile polyposis syndrome, Klippel-Trénaunay syndrome and Milroy disease

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 and many HCAs and nurses will encounter some of these conditions, given the high number of them. This 21st article will briefly explore four of these conditions.

Rare health conditions 20: three rare forms of epilepsy—myoclonic astatic epilepsy (Doose syndrome), Dravet syndrome, benign Rolandic epilepsy; and a note on cannabis use

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 HCAs and nurses will encounter some of these conditions, given the high number of these conditions. This 20th article will briefly explore three of these conditions, focussing on rare forms of epilepsy.

Rare health conditions 19: sideroblastic anaemia, autoimmune haemolytic anaemia, aplastic anaemia

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 less than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of these conditions. This 19th article will briefly explore three of these conditions: sideroblastic anaemia, autoimmune haemolytic anaemia and aplastic anaemia.

Rare health conditions 18: measles, mumps, rubella and Potter syndrome

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 less than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of these conditions. This eighteenth article will briefly explore four of these conditions.