Rare Health Conditions Research Articles

Rare health conditions 50: ‘making every contact count’, myoclonus-dystonia, Eagle 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 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 50th article will explore two of these conditions and the implications of ‘making every contact count’.

Rare health conditions 49: sudden arrhythmic death syndrome (SADS), sudden infant death syndrome (SIDS), and Hansen's 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 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 49th article will explore three of these conditions: sudden arrhythmic death syndrome (SADS); sudden infant death syndrome (SIDS); and Hansen's disease.

Rare health conditions 48: foetal valproate syndrome, familial amyloidosis and Dubin-Johnson 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 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 48th article will explore three of these conditions: foetal valproate syndrome; familial amyloidosis; and Dubin-Johnson syndrome. It will also focus on disabilities and health conditions caused by certain medical interventions.

Rare health conditions 47: the ‘strengths model’ of care, Gorham's disease and amniotic band syndrome

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 47th article will explore two of these conditions, Gorham's disease and amniotic band syndrome, and offer a focus on the ‘strengths-based model’ of healthcare assessment and planning.

Rare health conditions 46: health promotion, prevention, dying and death, neuromyotonia

The purpose of this series is to highlight a range of rare health conditions, which 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 these conditions. This 46th article will explore one of these conditions and also offer a discussion on three topics: health promotion; rare condition prevention; and preparing families for dying, death and bereavement.

Rare health conditions 45: Holt-Oram syndrome, infantile neuroaxonal dystrophy, query (Q) fever

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 and nurses will encounter some of these conditions given the high number of them. This 45th article will explore three of these conditions: Holt-Oram syndrome, infantile neuroaxonal dystrophy and query (Q) fever.

Rare health conditions 44: ataxia, Diamond Blackfan anaemia, sexual identities

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 and nurses will encounter some of these conditions, given the high number of them. This 44th article will briefly explore two of these conditions, ataxia and Diamond Blackfan anaemia, along with diverse and ‘underground’ forms of sexual identity.

Rare health conditions 43: phobias, homozygous familial hypercholesterolaemia and osteopetrosis

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 one person in every 2000. Many healthcare assistants and nurses will encounter some of these conditions given the high number of these conditions. This 43rd article will briefly explore two of these conditions, homozygous familial hypercholesterolaemia and osteopetrosis, as well as a range of rare phobias.

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study’s contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct‐mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct‐mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under‐representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct‐mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large‐scale, population‐based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant‐centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait.

Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions. A limited number of studies demonstrated that mitochondrial DNA can be captured using whole-exome sequencing. Previous studies have suggested that mitochondrial DNA variants and haplogroup lineages are associated with obesity. Therefore, we investigated the role of mitochondrial variants and haplogroups contributing to the risk of obesity in Arabs in Kuwait using exome sequencing data.Subjects/MethodsIndirect mitochondrial genomes were extracted from exome sequencing data from 288 unrelated native Arab individuals from Kuwait. The cohort was divided into obese [body mass index (BMI) ≥ 30 kg/m2] and non-obese (BMI < 30 kg/m2) groups. Mitochondrial variants were identified, and haplogroups were classified and compared with other sequencing technologies. Statistical analysis was performed to determine associations and identify mitochondrial variants and haplogroups affecting obesity.ResultsHaplogroup R showed a protective effect on obesity [odds ratio (OR) = 0.311; P = 0.006], whereas haplogroup L individuals were at high risk of obesity (OR = 2.285; P = 0.046). Significant differences in mitochondrial variants between the obese and non-obese groups were mainly haplogroup-defining mutations and were involved in processes in energy generation. The majority of mitochondrial variants and haplogroups extracted from exome were in agreement with technical replica from Sanger and whole-genome sequencing.ConclusionsThis is the first to utilize whole-exome data to extract entire mitochondrial haplogroups to study its association with obesity in an Arab population.

Rare health conditions 42: clinical supervision and its importance

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 and nurses will encounter some of these conditions, given the high number of these conditions. This 42nd article will briefly explore a range of issues that are associated with providing care and support to those with rare health conditions, including clinical supervision.

Older Adult Health Following Greater Access to Secondary Health Care: Evidence from Bus Service Introductions to Arab Towns in Israel

How much can socioeconomically-based health disparities be attributed to differential access to secondary and specialist health care? We evaluate this question in the context of Arab-Jewish health disparities in Israel while exploiting the introduction of public transportation to Arab communities. Primary care health services are readily available within Arab towns and the introduction of bus services increased residents' access to secondary health services that are almost exclusively available only outside their towns. In the short term older adults reported higher probabilities of being diagnosed with common health conditions, such as heart problems or high cholesterol, and rare health conditions. In the longer term – more than two years following the initial introduction of public transportation to one's town – there were reductions in overweight and mostly null effects on diagnosis-based health conditions. Coupled with an analysis on mortality rates, our results suggest that the higher rates of chronic conditions in the short term are due to higher diagnosis rates rather than health deterioration. However, this effect is weaker in the long run when the benefits of greater access to health care facilities offset the higher diagnosis rates.

Rare health conditions 41: Childhood interstitial lung disease or ChILD, Neuroblastoma and Ehlers-Danlos syndromes

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 healthcare assistants and nurses will encounter some of these conditions, given the high number of them. This 41st article will explore three of these conditions: childhood interstitial lung disease or ChILD, neuroblastoma and Ehlers-Danlos syndromes.

Rare health conditions 40: Gaucher's disease, Pompe disease, Ellis-Van Creveld syndrome, and Duchenne muscular dystrophy

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 40th article will briefly explore four of these conditions.

Rare health conditions 39: Krabbe disease; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (‘CANDLE’); Batten disease; and working with young children

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 (HCAs) and nurses will encounter some of these conditions, given the high number of these conditions. This 39th article will briefly explore three of these conditions—Krabbe disease, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE), and Batten disease—and also discuss working with young children and their families.

Rare health conditions 38: rare health conditions network, synaptic gap syndrome (syngap1), the pathologising of neurodiversity

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 38th article will explore one of these conditions, synaptic gap syndrome (syngap1), along with brief discussions on networking and pathologising neurodiversity.

Rare health conditions 37: rabies, Kawasaki disease, xeroderma pigmentosum (XP), postural orthostatic tachycardia syndrome (PoTS)

Chris Barber, Registered Nurse for Those with a Learning Disability 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 (HCAs) and nurses will encounter some of these conditions, given the high number of these conditions. This 37th article will briefly explore four of these conditions: rabies, Kawasaki disease, xeroderma pigmentosum (XP) and postural orthostatic tachycardia syndrome (PoTS).

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 conditions 35: acoustic neuroma, rhabdomyolysis, Barth 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 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 35th article will briefly explore three of these conditions: acoustic neuroma, rhabdomyolysis, and Barth syndrome.

Rare health conditions 34: Zellweger syndrome, Stickler syndrome, mucormycosis and Zollinger-Ellison syndrome

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 these conditions. This 34th article will briefly explore four of these conditions: Zellweger syndrome, Stickler syndrome, mucormycosis and Zollinger-Ellison syndrome.