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 2019/10/09

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.

23 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 2019/10/08

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.

Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.

Hum Mol Genet. 2019 Sep 06;:

Authors: Lodato MA, Walsh CA

Abstract
Aging is a mysterious process, not only controlled genetically but also subject to random damage that can accumulate over time. While DNA damage and subsequent mutation in somatic cells were first proposed as drivers of aging more than 60 years ago, whether and to what degree these processes shape the neuronal genome in the human brain could not be tested until recent technological breakthroughs related to single-cell whole-genome sequencing. Indeed, somatic single-nucleotide variants (SNVs) increase with age in the human brain, in a somewhat stochastic process that may nonetheless be controlled by underlying genetic programs. Evidence from the literature suggests that in addition to demonstrated increases in somatic SNVs during aging in normal brains, somatic mutation may also play a role in late-onset, sporadic neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In this review, we will discuss somatic mutation in the human brain, mechanisms by which somatic mutations occur and can be controlled, and how this process can impact human health.

PMID: 31578549 [PubMed - as supplied by publisher]

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 2019/10/03

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.

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 2019/10/03

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.

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 2019/10/02

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 2019/10/01

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.

The burden of serious fungal disease in the UK - infections with "rare" organisms.

J Infect. 2018 12;77(6):561-571

Authors: Borman AM, Szekely A, Palmer MD, Fraser M, Patterson Z, Johnson EM

PMID: 30391548 [PubMed - indexed for MEDLINE]

Double Duodenal Atresia: An Extremely Rare Presentation of Duodenal Obstruction.

J Paediatr Child Health. 2018 01;54(1):106-107

Authors: Singh G, Pandey A, Verma AK, Gupta A

PMID: 29314383 [PubMed - indexed for MEDLINE]

Congenital cytomegalovirus and infantile neutropaenia: A causal relationship?

J Paediatr Child Health. 2018 01;54(1):88-92

Authors: Mace AO, Carter T, Rueter K, Bowen AC

PMID: 28786201 [PubMed - indexed for MEDLINE]

[Recognize rare diseases on the skin].

Internist (Berl). 2019 Feb;60(2):193-201

Authors: Gualtieri B, Hertl M

Abstract
The correct interpretation of skin manifestations can facilitate the diagnosis of many rare systemic diseases. Such manifestations can be due to autoimmune diseases (e.g. dermatomyositis, systemic lupus erythematosus, systemic sclerosis and sarcoidosis) and metabolic diseases (e.g. Anderson-Fabry disease and porphyria cutanea tarda). Other cutaneous symptoms are of great importance because they are possible warning signs of occult diseases of internal organs. This is true for example for some diseases from the group of neutrophilic dermatoses, such as Sweet's syndrome and pyoderma gangraenosum.

PMID: 30631893 [PubMed - indexed for MEDLINE]

Primary Skull Base Lymphoma: Manifestations and Clinical Outcomes of a Great Imitator.

Otolaryngol Head Neck Surg. 2018 10;159(4):643-649

Authors: Marinelli JP, Modzeski MC, Lane JI, Van Gompel JJ, Stokken JK, Thanarajasingam G, Carlson ML

Abstract
Objectives Primary skull base lymphoma (PSBL) represents a rare manifestation of extranodal lymphoma. Presenting with nonspecific symptomatology and imaging findings, PSBL often masquerades as more common cranial base pathology and thus can present a diagnostic challenge. The objectives of this study were to characterize the manifestations and clinical outcomes of PSBL. Study Design Case series and chart review. Setting Tertiary referral center. Subjects and Methods Review of 48 patients with PSBL treated between 1994 and 2016. Results The median age at diagnosis was 60 years. Diffuse large B-cell lymphoma comprised the most common subtype (56%). Presenting symptoms included diplopia (52%), trigeminal hypesthesia (38%), headache (29%), facial nerve weakness (25%), B-symptoms (fevers, night sweats, and/or weight loss) (25%), and hearing loss (21%). Discrete lesions commonly mimicked meningioma, schwannoma, and nasopharyngeal carcinoma. Diffuse lesions imitated neurosarcoidosis, granulomatosis with polyangiitis, and carcinomatosis meningitis. Only 26% of all initial clinical evaluations suspected lymphoma. The combination of restricted diffusion on diffusion-weighted imaging, an absence of flow voids or surrounding hyperostosis, bony erosion and/or marrow signal replacement, and heterogeneous contrast enhancement facilitated delineation between PSBL and common skull base pathology. Cerebrospinal fluid (CSF) analysis was diagnostic of lymphoma in 24% of cases. Lymphoma within CSF portended significantly worse overall survival (85% vs 18% at 3-years; P < .001). Conclusion A history significant for multiple cranial nerve palsies, B-symptoms, and imaging findings inconsistent with common skull base pathology should raise suspicion for PSBL. CSF analysis in the setting of PSBL can provide diagnostic and prognostic value for patients.

PMID: 29734937 [PubMed - indexed for MEDLINE]

Potent antibody lineage against malaria transmission elicited by human vaccination with Pfs25.

Nat Commun. 2019 Sep 24;10(1):4328

Authors: McLeod B, Miura K, Scally SW, Bosch A, Nguyen N, Shin H, Kim D, Volkmuth W, Rämisch S, Chichester JA, Streatfield S, Woods C, Schief WR, Emerling D, King CR, Julien JP

Abstract
Transmission-blocking vaccines have the potential to be key contributors to malaria elimination. Such vaccines elicit antibodies that inhibit parasites during their development in Anopheles mosquitoes, thus breaking the cycle of transmission. To date, characterization of humoral responses to Plasmodium falciparum transmission-blocking vaccine candidate Pfs25 has largely been conducted in pre-clinical models. Here, we present molecular analyses of human antibody responses generated in a clinical trial evaluating Pfs25 vaccination. From a collection of monoclonal antibodies with transmission-blocking activity, we identify the most potent transmission-blocking antibody yet described against Pfs25; 2544. The interactions of 2544 and three other antibodies with Pfs25 are analyzed by crystallography to understand structural requirements for elicitation of human transmission-blocking responses. Our analyses provide insights into Pfs25 immunogenicity and epitope potency, and detail an affinity maturation pathway for a potent transmission-blocking antibody in humans. Our findings can be employed to guide the design of improved malaria transmission-blocking vaccines.

PMID: 31551421 [PubMed - in process]

A Rare Complication of a Rare Disease.

Gastroenterology. 2019 09;157(3):616-618

Authors: Nayak LJ, Sondhi AR, Westerhoff M

PMID: 31377276 [PubMed - indexed for MEDLINE]

Learning Physiology From Inherited Kidney Disorders.

Physiol Rev. 2019 07 01;99(3):1575-1653

Authors: van der Wijst J, Belge H, Bindels RJM, Devuyst O

Abstract
The identification of genes causing inherited kidney diseases yielded crucial insights in the molecular basis of disease and improved our understanding of physiological processes that operate in the kidney. Monogenic kidney disorders are caused by mutations in genes coding for a large variety of proteins including receptors, channels and transporters, enzymes, transcription factors, and structural components, operating in specialized cell types that perform highly regulated homeostatic functions. Common variants in some of these genes are also associated with complex traits, as evidenced by genome-wide association studies in the general population. In this review, we discuss how the molecular genetics of inherited disorders affecting different tubular segments of the nephron improved our understanding of various transport processes and of their involvement in homeostasis, while providing novel therapeutic targets. These include inherited disorders causing a dysfunction of the proximal tubule (renal Fanconi syndrome), with emphasis on epithelial differentiation and receptor-mediated endocytosis, or affecting the reabsorption of glucose, the handling of uric acid, and the reabsorption of sodium, calcium, and magnesium along the kidney tubule.

PMID: 31215303 [PubMed - indexed for MEDLINE]

UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003-2013).

Clin Genet. 2018 05;93(5):972-981

Authors: Szczepura A, Wynn S, Searle B, Khan AJ, Palmer T, Biggerstaff D, Elliott J, Hultén MA

Abstract
The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of 2 large-scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a 10-year period. Seven stages of the patient journey were examined. From pre-testing, through diagnosis, genetics consultation, clinical follow-up and peer support. Overall, 1158 families replied; 36.4% response rate (2003) and 53.6% (2013). Analysis of responses identifies significant differences (P < .001) over time with a decrease in results reported face to face (76%-62%), doubling by telephone (12%-22%), improved explanation of chromosome disorder (57%-75%), and increased signposting to peer support group (34%-62%). However, conduct of the consultation raises a number of important questions. Overall, 28 aspects of the patient journey are recognised as requiring improvement; only 12/28 are currently incorporated in UK service specifications. Involvement of RCD families has identified key service improvements. This approach can empower those affected by such extremely rare disorders, and also enable professionals to design improved services in partnership with "expert families." Further surveys are planned.

PMID: 29318577 [PubMed - indexed for MEDLINE]

Collecting ducts carcinoma: An orphan disease. Literature overview and future perspectives.

Cancer Treat Rev. 2019 Sep;79:101891

Authors: Pagani F, Colecchia M, Sepe P, Apollonio G, Claps M, Verzoni E, de Braud F, Procopio G

Abstract
Collecting ducts carcinoma (CDC) is a rare and aggressive histological subtype of renal cancer accounting for only 1% of renal tumors. Usually patients present in bad clinical conditions due to a symptomatic disease with synchronous metastasis. Due to the rarity of CDC, data from prospective trials evaluating the best treatment for these patients are limited. The prognosis is poor with a median overall survival of around 11 months for patients with metastatic disease. The best treatment option today is considered a doublet chemotherapy with platinum salt plus gemcitabine as a result from a prospective phase II trial, but survival outcomes remain unsatisfactory. The interest in the in-depth understanding the biology of this orphan disease is growing, leading to find potential new biological-driven treatment approaches. Here we review the up-to-date literature evidences to address the best management of this rare and unfavorable clinical condition.

PMID: 31491662 [PubMed - indexed for MEDLINE]

[A unique case of secondary takotsubo syndrome].

G Ital Cardiol (Rome). 2018 Apr;19(4):239-241

Authors: Arcari L, Limite LR, Autore C, Volpe M, Musumeci MB

Abstract
Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by transient systolic left ventricular dysfunction frequently preceded by stressful events. It typically affects postmenopausal women without angiographic evidence of obstructive coronary artery disease. We report here an uncommon occurrence of secondary TTS in a male with coronary artery disease after exogenous catecholamine administration and pacemaker implantation. This unexpected case suggests that, in such clinical scenario, a TTS diagnosis might be considered even in unsuspected individuals.

PMID: 29912238 [PubMed - indexed for MEDLINE]

[Peripartum cardiomyopathy: a little known disease].

G Ital Cardiol (Rome). 2018 Apr;19(4):209-221

Authors: Scardovi AB, De Maria R

Abstract
Peripartum cardiomyopathy (PPCM) is a relatively rare cardiac disease that manifests itself in the final stage of pregnancy and in the first months after delivery in women with no previous history of cardiovascular disease. The incidence of PPCM varies widely across geographic areas and seems to be on the rise as a result of increased awareness and socioeconomic changes. PPCM recognizes a still partially undefined multifactorial etiology. Various pathogenetic hypotheses have been proposed, that range from autoimmune mechanisms to myocarditis to the hormonal hypothesis for aberrant, antiangiogenic and cardiotoxic prolactin (PRL) production, apoptosis, prolonged exposure to tocolytic drugs, malnutrition and genetic predisposition.The diagnosis of PPCM is still made by exclusion of other etiologies. Although some specific biomarkers with pregnancy-related kinetics have been proposed as diagnostic tools, their value remains questionable and they are not yet available in clinical practice.The prognosis of the disease is variable and not always predictable: both complete functional recovery and poor response to therapy and development of dilated cardiomyopathy and chronic heart failure (HF) may occur, although outcomes appears to have improved slightly in recent years.The acute phase of PPCM may require the use of inotropes and vasodilators as well as mechanical circulatory support and in some cases heart transplant may be indicated. Beta1-adrenergic agonists are contraindicated due to the possible induction of permanent damage due to loss of myocytes, with evolution towards chronic HF. The recent demonstration of the cardiotoxic effect of aberrant PRL has led to successful testing of the therapeutic effects of bromocriptine, a 2D dopamine agonist that blocks PRL. This treatment appears specific to PPCM, as it is targeted at 16k Da PRL, its mediator miR-146a and/or vascular endothelial growth factor.The long-term prognosis, once the acute phase is over, is a function of myocardial damage, and varies from complete functional recovery to chronic HF. Subsequent pregnancies always present a risk of recurrence and hence should be avoided. Even in cases with full functional recovery, relapses in the case of a new pregnancy may occur in 20% of cases. Women who wish a further pregnancy must be adequately informed and, in case of pregnancy, should undergo close monitoring. Treatment of chronic HF does not differ from that from other etiologies, according to international guidelines.

PMID: 29912235 [PubMed - indexed for MEDLINE]

[From symptom to syndrome using modern software support].

Internist (Berl). 2018 Aug;59(8):766-775

Authors: Köhler S

Abstract
Diagnosing rare diseases can be challenging for clinicians. This article gives an overview on novel approaches, which enable automated phenotype-driven analyses of differential diagnoses for rare diseases as well as genomic variation data of affected individuals. The focus lies on reliable methods for collating clinical phenotypic data and new algorithms for precise and robust assessment of the similarity between phenotypic profiles. The Human Phenotype Ontology project (HPO; www.human-phenotype-ontology.org ) provides an ontology for collating symptoms and clinical phenotypic abnormalities. Using ontologies makes it possible to capture these data in a precise and comprehensive fashion as well as to apply reliable and robust automated analyses. Tools, such as the Phenomizer, enable the algorithmic calculation of similarity values amongst patients or between patients and disease descriptions. Such digital tools represent a solid foundation for differential diagnostic applications. Many rare diseases have a strong genetic component but the analysis of the coding DNA variants in rare disease patients is an enormously complex procedure, which often impedes successful molecular diagnostics. In this situation a combined analysis of the patients HPO-coded phenotypic features and the genomic characteristics of the variants can be of substantial help. In this case the HPO project and the associated algorithms are helpful: it is therefore an important component for phenotype-driven translational research and prioritization of disease-relavant genomic variations.

PMID: 29995249 [PubMed - indexed for MEDLINE]