[The use of Facebook in Spanish associations of rare diseases: how and what is it used for?].

Gac Sanit. 2015 Sep-Oct;29(5):335-40

Authors: Armayones M, Requena S, Gómez-Zúñiga B, Pousada M, Bañón AM

Abstract
OBJECTIVE: To study whether the use of Facebook is widespread in the field of patient associations for rare diseases and, if so, the purpose for which the site is being used.
METHOD: A descriptive study was conducted to determine whether associations within the Spanish Federation for Rare Diseases use Facebook and, if so, the type of use and its objectives. The analysis was performed based on a categorization system that has been used in the field of chronic diseases and has been adapted to the specific characteristics of rare diseases.
RESULTS: Associations use Facebook to raise awareness of rare diseases in general and particularly to share content related to psychological, medical and social support, the promotion and dissemination of research, and fundraising.
CONCLUSIONS: The alignment between the interests of associations through their presence on Facebook and policy areas of the national strategy for rare diseases is a reason for optimism about the feasibility of using Facebook as a tool for encounters and collaborative work.

PMID: 26145457 [PubMed - indexed for MEDLINE]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/04/04

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

24 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/04/01

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/03/31

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Association of Vogt Koyanagi Harada Syndrome and Seronegative Rheumatoid Arthritis.

Ethiop J Health Sci. 2016 Mar;26(2):193-6

Authors: Aydin T, Taspinar O, Guneser M, Keskin Y

Abstract
BACKGROUND: Vogt Koyanagi Harada (VKH) Syndrome is a rarely-seen multi-systemic, autoimmune and inflammatory disease. It observed frequently with neurologic, auditory and skin manifestations and characterized with bilateral, chronic and diffused granulomatous panuveitis. It generally affects women in young-adult period.
CASE: A 57 year-old female patient applied to a special center one year ago with a complaint of decrease in the sight acuity of the right eye. The right eye was operated on with cataract diagnosis. Uveitis was developed firstly in the right eye and then in the left eye after the operation. Having complaints about uveitis, tinnitus and hear loss, the patient was diagnosed with VKH syndrome. The pains started to be felt in small hand joints and both of the two ankles. The pains were increasing especially in the mornings and during rest. The duration of morning stiffness was two hours in hand and foot joints. The patient had had lumbar pain with mechanic characteristic for five years.
CONCLUSION: Being diagnosed with seronegative rheumatoid arthritis (RA), our case is presented because VKH syndrome is rarely seen in Turkey, and the joint findings are at the forefront.

PMID: 27222633 [PubMed - indexed for MEDLINE]

The Patient Educator Presentation in Dental Education: Reinforcing the Importance of Learning About Rare Conditions.

J Dent Educ. 2016 May;80(5):533-41

Authors: Edwards PC, Graham J, Oling R, Frantz KE

Abstract
The aim of this study was to determine whether a patient educator presentation (PEP) on pemphigus vulgaris would increase second-year dental students' awareness of the importance of learning about rare conditions and improve their retention of rare disease knowledge. The study involved students' subjective assessments of a PEP experience at two U.S. dental schools. In this mixed methods study, cross-sectional data were obtained by surveys and in-depth interviews. Questions focused on students' assessment of the messages acquired from the PEP and its likely impact on their future clinical care. At University 1, students completed paper surveys with open-ended questions and participated in a focus group. At University 2, students completed an online survey consisting of rating scale and open-ended questions. Responses to open-ended questions were categorized into themes. At University 1, 79 students (out of a possible 102; response rate 77.5%) completed the survey, and an additional ten students participated in a focus group. At University 2, 30 students (out of a possible 104; response rate 28.8%) completed the survey. At Universities 1 and 2, 88% and 100%, respectively, of respondents stated the PEP would influence their future clinical decision making. The vast majority of respondents (94% and 100% at University 1 and University 2, respectively) were of the opinion that the personal testimonial from a patient would help them recall information about pemphigus vulgaris in five years' time. Respondents from both universities commented that the PEP emphasized the importance of not dismissing a patient's concerns. These results suggest that a presentation by a patient with a rare condition can be an effective educational tool for preclinical dental students.

PMID: 27139204 [PubMed - indexed for MEDLINE]

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/03/28

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Cell. 2017 Mar 23;169(1):6-12

Authors: Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C

Abstract
Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.

PMID: 28340351 [PubMed - in process]

[Not Available].

Rofo. 2016 Jul;188(7):687-9

Authors: Kunz WG, Paprottka PM, Reichelt A

PMID: 27355634 [PubMed - indexed for MEDLINE]

[Not Available].

Rofo. 2016 Jul;188(7):684-5

Authors: Peters S, Cohrs G, Larsen N

PMID: 27355632 [PubMed - indexed for MEDLINE]

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Brain. 2017 Mar 01;:

Authors: Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE

Abstract
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. ZNHIT3 encodes a nuclear zinc finger protein previously implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing. The identified mutation affects a highly conserved amino acid residue in the zinc finger domain of ZNHIT3. Both knockdown and genome editing of znhit3 in zebrafish embryos recapitulate the patients' cerebellar defects, microcephaly and oedema. These phenotypes are rescued by wild-type, but not mutant human ZNHIT3 mRNA, suggesting that the patient missense substitution causes disease through a loss-of-function mechanism. Transfection of cell lines with ZNHIT3 expression vectors showed that the PEHO syndrome mutant protein is unstable. Immunohistochemical analysis of mouse cerebellar tissue demonstrated ZNHIT3 to be expressed in proliferating granule cell precursors, in proliferating and post-mitotic granule cells, and in Purkinje cells. Knockdown of Znhit3 in cultured mouse granule neurons and ex vivo cerebellar slices indicate that ZNHIT3 is indispensable for granule neuron survival and migration, consistent with the zebrafish findings and patient neuropathology. These results suggest that loss-of-function of a nuclear regulator protein underlies PEHO syndrome and imply that establishment of its spatiotemporal interaction targets will be the basis for developing therapeutic approaches and for improved understanding of cerebellar development.

PMID: 28335020 [PubMed - as supplied by publisher]

A Rare Congenital Pulmonary Anomaly of a Young Adult: Pseudosequestration.

Ann Thorac Surg. 2016 Aug;102(2):e163

Authors: Özdil A, Akçam Tİ, Çağırıcı U, Savaş R

PMID: 27449457 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/03/23

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

A rare life-threatening condition: metastasis to the heart.

Am J Emerg Med. 2016 Sep;34(9):1912.e3-4

Authors: Topcu S, Gülcü O, Aksu U, Aksakal E

PMID: 26922641 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/03/18

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560

Authors: Morton SU, Prabhu SP, Lidov HG, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB

Abstract
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. In addition, there was microvesicular steatosis in the liver, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy. This report adds to the clinical and pathological spectrum of disease related to AIFM1 mutations and provides insights into the role of AIFM1 in cellular function.

PMID: 28299359 [PubMed - in process]

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/03/16

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

J Clin Neuromuscul Dis. 2017 Mar;18(3):147-151

Authors: Karakaya M, Ceyhan-Birsoy O, Beggs AH, Topaloglu H

Abstract
Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. We report a 17-month-old boy with dropped head and limb-girdle weakness, who had no ptosis or ophthalmoplegia at presentation. We performed whole exome sequencing, which revealed a homozygous missense variant in the AGRN gene c.5023G>A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely disease causing by in silico tools. Agrin is known to play a critical role in the development and maintenance of the neuromuscular junction. Agrin-related CMS is one of the rarest subtypes. Of note, our patient is the first described patient with agrin-related CMS with dropped head phenotype.

PMID: 28221305 [PubMed - indexed for MEDLINE]

Giant Interfrontal Encephalocele in an Infant: A Rare Entity.

Pediatr Neurosurg. 2016;51(6):309-312

Authors: Faheem M, Singh SK, Ojha BK, Chandra A, Srivastava C, Jaiswal M, Zeeshan Q

Abstract
Interfrontal encephalocele is one of the rare varieties of anterior encephalocele, and a giant interfrontal encephalocele is extremely rare. The authors could find only one case report of giant interfrontal encephalocele in the literature. Anterior encephaloceles are more prevalent in South-East Asia and some northern parts of India. Giant encephalocele poses a great challenge to neurosurgeons and neuroanesthetists during surgery, as these infants usually have a low birth weight and a large sac, thus making the infant prone to hypothermia and blood loss among other risks. We encountered a patient with a giant interfrontal encephalocele aged 1 month. The rarity of this case prompted us to this report.

PMID: 27513987 [PubMed - indexed for MEDLINE]

Determinants and Equity Evaluation for Health Expenditure Among Patients with Rare Diseases in China.

Chin Med J (Engl). 2016 Jun 20;129(12):1387-93

Authors: Xin XX, Zhao L, Guan XD, Shi LW

Abstract
BACKGROUND: China has not established social security system for rare diseases. Rare diseases could easily impoverish patients and their families. Little research has studied the equity and accessibility of health services for patients with rare diseases in China. This study aimed to explore the factors that influence health expenditure of rare diseases and evaluate its equity.
METHODS: Questionnaire survey about living conditions and cost burden of patients with rare diseases was conducted. Individual and family information, health expenditure and reimbursement in 2014 of 982 patients were collected. The impact of medical insurance, individual sociodemographic characteristics, family characteristics, and healthcare need on total and out-of-pocket (OOP) health expenditures was analyzed through the generalized linear model. Equity of health expenditure was evaluated by both concentration index and Lorenz curve.
RESULTS: Of all the surveyed patients, 11.41% had no medical insurance and 92.10% spent money to seek medical treatment in 2014. It was suggested female (P = 0.048), over 50 years of age (P = 0.062), high-income group (P = 0.021), hospitalization (P = 0.000), and reimbursement ratio (RR) (P = 0.000) were positively correlated with total health expenditure. Diseases not needing long-term treatment (P = 0.000) was negatively correlated with total health expenditure. Over 50 years of age (P = 0.065), high-income group (P = 0.018), hospitalization (P = 0.000) and having Urban Employee Basic Medical Insurance (UEBMI) (P = 0.022) were positively correlated with OOP health expenditure. Patient or the head of the household having received higher education (P = 0.044 and P = 0.081) and reimbursement ratio (P = 0.078) were negatively correlated with OOP health expenditure. The equity evaluation found concentration indexes of health expenditure before and after reimbursement were 0.0550 and 0.0539, respectively.
CONCLUSIONS: OOP health expenditure of patients with UEBMI was significantly more than that of patients without medical insurance. However, for any other medical insurance, there was no difference between OOP health expenditure of the insured patients and patients without insurance. The current reimbursement policies have increased the equity of health expenditure, but are biased toward high-income people.

PMID: 27270531 [PubMed - indexed for MEDLINE]