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 2020/01/25

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.

9 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 2020/01/24

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.

9 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 2020/01/23

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.

Ion Channel Functions in Early Brain Development.

Trends Neurosci. 2020 Jan 17;:

Authors: Smith RS, Walsh CA

Abstract
During prenatal brain development, ion channels are ubiquitous across several cell types, including progenitor cells and migrating neurons but their function has not been clear. In the past, ion channel dysfunction has been primarily studied in the context of postnatal, differentiated neurons that fire action potentials - notably ion channels mutated in the epilepsies - yet data now support a surprising role in prenatal human brain disorders as well. Modern gene discovery approaches have identified defective ion channels in individuals with cerebral cortex malformations, which reflect abnormalities in early-to-middle stages of embryonic development (prior to ubiquitous action potentials). These human genetics studies and recent in utero animal modeling work suggest that precise control of ionic flux (calcium, sodium, and potassium) contributes to in utero developmental processes such as neural proliferation, migration, and differentiation.

PMID: 31959360 [PubMed - as supplied by publisher]

A framework for the investigation of rare genetic disorders in neuropsychiatry.

Nat Med. 2019 10;25(10):1477-1487

Authors: Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE

Abstract
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.

PMID: 31548702 [PubMed - indexed for MEDLINE]

Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study.

Pediatr Rheumatol Online J. 2019 Jul 15;17(1):43

Authors: Li SC, Fuhlbrigge RC, Laxer RM, Pope E, Ibarra MF, Stewart K, Mason T, Becker ML, Hong S, Dedeoglu F, Torok KS, Rabinovich CE, Ferguson PJ, Punaro M, Feldman BM, Andrews T, Higgins GC, CARRA Registry Investigators

Abstract
BACKGROUND: We designed and initiated a pilot comparative effectiveness study for juvenile localized scleroderma (jLS), for which there is limited evidence on best therapy. We evaluated the process we used, in relation to the specific protocol and to the general task of identifying strategies for implementing studies in rare pediatric diseases.
METHODS: This was a prospective, multi-center, observational cohort study of 50 jLS patients initiating treatment, designed and conducted by the jLS group of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) from 2012 to 2015. A series of virtual and physical meetings were held to design the study, standardize clinical assessments, generate and refine disease activity and damage measures, and monitor the study. Patients were initiated on one of three standardized methotrexate-based treatment regimens (consensus treatment plans, CTPs) and monitored for 1 year. An optional bio-banking sub-study was included.
RESULTS: The target enrollment of 50 patients was achieved over 26 months at 10 sites, with patients enrolled into all CTPs. Enrolled patients were typical for jLS. Study eligibility criteria were found to perform well, capturing patients thought appropriate for treatment studies. Minor modifications to the eligibility criteria, primarily to facilitate recruitment for future studies, were discussed with consensus agreement reached on them by the jLS group. There were marked differences in site preferences for specific CTPs, with half the sites treating all their patients with the same CTP. Most patients (88%) completed the study, and 68% participated in the bio-banking substudy.
CONCLUSIONS: We demonstrate the feasibility of our approach for conducting comparative effectiveness research in a rare pediatric disease. Multi-center collaboration by dedicated investigators who met regularly was a key factor in the success of this project. Other factors that facilitate these studies include having a sufficient number of investigators to enroll in each regimen, and streamlining study approval and management.

PMID: 31307476 [PubMed - indexed for MEDLINE]

Comprehensive Evaluation of Rare Pituitary Lesions: A Single Tertiary Care Pituitary Center Experience and Review of the Literature.

Endocr Pathol. 2019 Sep;30(3):219-236

Authors: Cossu G, Brouland JP, La Rosa S, Camponovo C, Viaroli E, Daniel RT, Messerer M

Abstract
The 2017 World Health Organization classification of central nervous system and endocrine tumors have introduced significant changes in the diagnostic criteria for pituitary lesions. The aim of our paper is to describe the epidemiological, clinico-pathological, and radiological features of a single consecutive institutional surgical series of rare pituitary lesions, using these new criteria. Of the 316 endoscopic endonasal trans-sphenoidal approaches performed for pituitary lesions between 2010 and 2018, 15 rare lesions were encountered. These included metastases, pituitary carcinomas, pituicytomas, granular cell tumor, primary pituitary lymphomas, germinoma, mixed gangliocytoma-adenoma, hypophysitis, and pituitary hyperplasia. Their clinical, radiological, and pathological features are herewith presented along with a literature review that enabled us to propose an algorithm to facilitate a diagnosis for rare pituitary lesions.

PMID: 31209729 [PubMed - indexed for MEDLINE]

Giant Meckel diverticulum: A rare cause of intestinal obstruction.

Cir Esp. 2019 Aug - Sep;97(7):405

Authors: Vivas Lopez A, Pastor Altaba D, Nutu OA, Marcacuzco Quinto A

PMID: 30678989 [PubMed - indexed for MEDLINE]

10 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 2020/01/21

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.

10 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 2020/01/21

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.

Patient-driven initiatives for prioritizing drug discovery for rare diseases.

Indian J Med Res. 2019 03;149(3):326-328

Authors: Bhattacharya A, Bhattacharya S

PMID: 31249196 [PubMed - in process]

A Case Study Evaluating the Diagnosis and Treatment of a Rare Mesenchymal Tumor.

Urology. 2019 Sep;131:e1-e2

Authors: Shinder B, Sack J, Sadimin E, Tunuguntla H

Abstract
The objective of this study is to report a benign mesenchymal neoplasm, cellular angiofibroma. We describe a 34-year-old male with a 4-month history of a painless right inguinal mass. CT scan of the abdomen and pelvis showed a 6.6 cm, oval-shaped mass without any distinguishing radiographical features. Surgical excision of the mass was performed. Tissue was extracted for immunohistochemical analysis, which stained positive for CD34 and Desmin, confirming cellular angiofibroma of the spermatic cord. Thus, this report highlights the importance of a challenging diagnostic case for providers due to the narrow range of imaging modalities and therefore limited treatment options.

PMID: 31247212 [PubMed - in process]

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.

Urology. 2020 Jan;135:165-170

Authors: Roth JD, Pariser JJ, Stout TE, Misseri R, Elliott SP

Abstract
OBJECTIVE: To describe the urologic sequalae of several rare congenital neuromuscular diseases.
METHODS: We retrospectively reviewed medical records at Gillette Specialty Healthcare (2014-2018) of patients presenting to urology clinic with lower urinary tract symptoms and select rare congenital diseases: muscular dystrophy, spinal muscular atrophy, and Rett syndrome.
RESULTS: Muscular dystrophies (n = 19) are X-linked myogenic disorders characterized by progressive muscle wasting and weakness. Men present to the urologist at variable ages, typically with complaints of functional incontinence and normal cystometrograms; we manage them with oral anticholinergic medications, condom catheter, or suprapubic catheter. Spinal muscular atrophy (n = 6) is a rare autosomal recessive disease characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem leading to progressive muscle weakness and atrophy. Patients typically present with nephrolithiasis and urinary retention in late adolescence/early adulthood, but timing varies. Filling cystometrograms have been normal. We allow passive retention with intermittent catheterization and creation of catheterizable channels, when indicated. Rett syndrome (n = 5) is a rare, noninheritable genetic condition affecting females characterized by a brief period of normal development followed by loss of speech and purposeful hand use; there are characteristic behaviors. Patients present in early adulthood with complaints of urinary retention. We manage retention with permissive retention or sphincter chemodenervation.
CONCLUSION: Several congenital neuromuscular conditions can cause lower urinary tract symptoms when these individuals become adults. We have discussed the clinical characteristics and management of select neurogenic and myogenic bladder conditions seen in adults with congenital conditions.

PMID: 31626855 [PubMed - indexed for MEDLINE]

Clinical Characteristics and Surgical Management of Adult Adrenal Teratoma: A 15-year Experience and Systematic Review of the Literature.

Urology. 2020 Jan;135:71-75

Authors: Zhong W, Ma R, Cheng S, Tian J, Wang H, Wang T, Zhang Z, Li X, Lu J, Ma L, Zhou L

Abstract
OBJECTIVE: To summarize the clinical characteristics and surgical management of adrenal teratoma in adults.
PATIENTS AND METHODS: We retrospectively reviewed 14 patients with adrenal teratoma from January 2002 to June 2017, at 2 large centers in China and performed a systematic review of 39 patients from our series and published literatures. The clinicopathological characteristics, imaging features, surgical management and outcomes of this rare disease were analyzed.
RESULTS: Our series includes 12 females and 2 males with the median age of 35. Seven patients were treated by open adrenalectomy (OA) and 7 by laparoscopic adrenalectomy (LA) without perioperative complications. All patients were alive without recurrence or canceration over a mean follow-up of 77.1 months. In the systemic review, the male-female ratio was nearly 1:3, with a median age of 29 years. Mean tumor size was 9.4 cm and the distribution was almost the same between left and right side (53.8% vs 46.2%). The most common symptoms were flank or abdominal pain (46.2%), whereas 53.8% patients were asymptomatic. Tumors were often cystic (63.9%) with intratumoral fat (91.7%) and calcifications (80.6%). All patients underwent surgery including 17 (43.6%) OA and 22 (56.4%) minimally invasive surgery. All tumors were pathologically confirmed mature teratoma except for one.
CONCLUSION: Adrenal teratoma is an extremely rare entity, frequently found to be large, benign and cystic. The patient's prognosis is generally good. As for its large volume, OA is the first choice for teratoma in most cases, while the LA can be an option in the small one.

PMID: 31195014 [PubMed - indexed for MEDLINE]

[The organization of pharmacovigilance in France, in Europe and worldwide - From label to delivery of an innovative treatment: what a journey! (3)].

Med Sci (Paris). 2019 Mar;35 Hors série n° 1:37-39

Authors: Lebrun-Vignes B

PMID: 30943161 [PubMed - indexed for MEDLINE]

[Biotherapies: a revolution on the move].

Med Sci (Paris). 2019 Mar;35 Hors série n° 1:8-12

Authors: Braun S

PMID: 30943153 [PubMed - indexed for MEDLINE]

[A dream becoming reality].

Med Sci (Paris). 2019 Mar;35 Hors série n° 1:7

Authors: Pouget J

PMID: 30943152 [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 2020/01/15

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 2020/01/15

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.

13 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 2020/01/14

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.