14 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 2019/10/23

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.

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.

Am J Med Genet A. 2019 Oct 21;:

Authors: Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH

Abstract
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable intellectual disability. Known disease genes include CCBE1, FAT4, and ADAMTS3. In a patient with clinically diagnosed Hennekam syndrome but without mutations or copy-number changes in the three known disease genes, we identified a homozygous single-exon deletion affecting FBXL7. Specifically, exon 3, which encodes the F-box domain and several leucine-rich repeats of FBXL7, is eliminated. Our analyses of databases representing >100,000 control individuals failed to identify biallelic loss-of-function variants in FBXL7. Published studies in Drosophila indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences. These data suggest that FBXL7 may be the fourth gene for Hennekam syndrome, acting via a shared pathway with FAT4.

PMID: 31633297 [PubMed - as supplied by publisher]

The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice.

Mol Ther. 2019 Sep 03;:

Authors: Hightower RM, Reid AL, Gibbs DE, Wang Y, Widrick JJ, Kunkel LM, Kastenschmidt JM, Villalta SA, van Groen T, Chang H, Gornisiewicz S, Landesman Y, Tamir S, Alexander MS

Abstract
Duchenne muscular dystrophy (DMD) is an X-linked muscle wasting disease that is caused by the loss of functional dystrophin protein in cardiac and skeletal muscles. DMD patient muscles become weakened, leading to eventual myofiber breakdown and replacement with fibrotic and adipose tissues. Inflammation drives the pathogenic processes through releasing inflammatory cytokines and other factors that promote skeletal muscle degeneration and contributing to the loss of motor function. Selective inhibitors of nuclear export (SINEs) are a class of compounds that function by inhibiting the nuclear export protein exportin 1 (XPO1). The XPO1 protein is an important regulator of key inflammatory and neurological factors that drive inflammation and neurotoxicity in various neurological and neuromuscular diseases. Here, we demonstrate that SINE compound KPT-350 can ameliorate dystrophic-associated pathologies in the muscles of DMD models of zebrafish and mice. Thus, SINE compounds are a promising novel strategy for blocking dystrophic symptoms and could be used in combinatorial treatments for DMD.

PMID: 31628052 [PubMed - as supplied by publisher]

A rare case of endometriosis invading external iliac vein causing deep vein thrombosis.

Am J Obstet Gynecol. 2019 01;220(1):113-114

Authors: Li M, Chen K, Fong YF

PMID: 29859137 [PubMed - indexed for MEDLINE]

Erdheim-Chester Disease.

Mayo Clin Proc. 2019 05;94(5):924-925

Authors: Poellinger A, Hrycyk J

PMID: 31054617 [PubMed - indexed for MEDLINE]

Ulcerative Sarcoidosis.

JAMA Dermatol. 2019 Feb 01;155(2):238

Authors: Hashemi DA, Rosenbach M

PMID: 30566195 [PubMed - indexed for MEDLINE]

Bilateral Round Scar-like Lesions on the Face of a Young Man.

JAMA Dermatol. 2019 Feb 01;155(2):245-246

Authors: Quintana Castanedo L, Beato Merino MJ, Nuño González A

PMID: 30427986 [PubMed - indexed for MEDLINE]

Disseminated Vegetating Plaques and Pustules.

JAMA Dermatol. 2019 Feb 01;155(2):243-244

Authors: Seth D, Kiprono SK, Chang AY

PMID: 30419121 [PubMed - indexed for MEDLINE]

[Importance of psychosomatic medicine for people with rare diseases].

Internist (Berl). 2019 Jun;60(6):638-643

Authors: Kolb-Niemann B, Kruse J

Abstract
People with rare diseases have a very high rate of mental and social stress. This results in specific tasks and problems in the psychosomatic care of patients. On the one hand, the physical and/or psychological symptoms of an undetected rare organic disease can be misdiagnosed as a psychosomatic disease, and the affected persons possibly receive psychotherapy that is not causally effective. On the other hand, mental diseases that require treatment can arise as a result of the effects of a rare disease. These should be diagnosed as such and treated with psychotherapy. If, in individual cases, both symptoms of a rare disease and symptoms of a psychosomatic disorder in the sense of comorbidity are present, neither one nor the other diagnosis should lead to a hasty termination of diagnostic efforts. Otherwise, misalignments can easily occur and the further diagnostic and therapeutic process can be permanently disturbed. Interdisciplinary team care interventions should therefore be developed further.

PMID: 31076796 [PubMed - indexed for MEDLINE]

Langerhans Cell Histiocytosis of Bilateral Mastoid Cavity.

J Int Adv Otol. 2018 Aug;14(2):341-343

Authors: Bahar S, Dal T

Abstract
Langerhans cell histiocytosis (LCH) is a rare disease, which may involve various organ systems; therefore, it has multiple clinical manifestations.
CASE REPORT: We present the case of a 56-year-old woman admitted to Amerikan Hospital Ear-Nose and Throat outpatient clinic with a complaint of progressive hearing loss in both ears, which had started 10 years ago. She was treated with corticosteroids for 10 years until last year, 2017. Surgical exploration was performed and histologic evaluation revealed LCH.
CONCLUSIONS: LCH has clinical manifestations depending on the site of infiltration. In adults, isolated bilateral mastoid infiltration, as an initial symptom, is a very rare condition. With corticosteroid uptake, the period of initial symptom was 10 years in our patient, which is, as per our knowledge, the longest reported in literature. This infiltration may mimic acute or chronic infections of the ear. Therefore, LCH should be considered in the differential diagnose of patients who present with bilateral mastoid cavity disease.

PMID: 30256209 [PubMed - indexed for MEDLINE]

[Analyze the national directory of rare diseases, define the diagnostic role of the stomatologists].

Zhonghua Kou Qiang Yi Xue Za Zhi. 2019 Oct 09;54(10):699-706

Authors: Liu TN, Chen QM, Zeng X

Abstract
A rare disease, also referred to as an orphan disease, is defined as the disease with a low prevalence or that affects a small percentage of the population. It is a well model of human disease, which can facilitate the in-depth study and understanding of related diseases. Therefore, five Chinese governmental authorities, including the National Health Commission of the People's Republic of China, jointly issued the "First National Directory of Rare Diseases" (the First List) on May 11, 2018. The First List covers 121 rare indications. In the analysis of the directory, we found that among the 121 diseases, there are 51 (42.2%) with oral characterization. Oral manifestations mainly include craniofacial abnormalities, dentition (dental) abnormalities, oral soft tissue lesions, jaw bone lesions, salivary gland related diseases, etc., even some of them are the first, earliest and inevitable clinical manifestations of some patients with rare diseases. In order to strengthen the understanding of stomatological counterparts on the importance of the national directory of rare diseases and deeply understand the important and irreplaceable role of stomatologists in the diagnosis and treatment of rare diseases, the present review article is specifically written to introduce the oral characterization of the rare diseases listed in the catalogue, aiming at improving the diagnosis and treatment capabilities of these diseases by peers and benefiting the public.

PMID: 31607009 [PubMed - in process]

Acquired Localized Diaphragmatic Eventration with Liver Herniation.

Intern Med. 2019 07 01;58(13):1971-1972

Authors: Ono R, Takahashi H, Yamashita D, Fukushima K

PMID: 30918178 [PubMed - indexed for MEDLINE]

Ischaemic bowel due to migrated intra-uterine contraceptive device: a rare, delayed complication of intra-uterine contraceptive devices.

ANZ J Surg. 2018 12;88(12):1349-1350

Authors: Mellow S, Ong HI, Wong M, Atalla M

PMID: 28464502 [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 2019/10/12

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.

Reducing Health Care Disparities in Sickle Cell Disease: A Review.

Public Health Rep. 2019 Oct 10;:33354919881438

Authors: Lee L, Smith-Whitley K, Banks S, Puckrein G

Abstract
Sickle cell disease (SCD) is an inherited blood disorder most common among African American and Hispanic American persons. The disease can cause substantial, long-term, and costly health problems, including infections, stroke, and kidney failure, many of which can reduce life expectancy. Disparities in receiving health care among African Americans and other racial/ethnic minority groups in the United States are well known and directly related to poor outcomes associated with SCD. As an orphan disease-one that affects <200 000 persons nationwide-SCD does not receive the research funding and pharmaceutical investment directed to other orphan diseases. For example, cystic fibrosis affects fewer than half the number of persons but receives 3.5 times the funding from the National Institutes of Health and 440 times the funding from national foundations. In this review, we discuss the health inequities affecting persons with SCD, describe programs intended to improve their care, and identify actions that could be taken to further reduce these inequities, improve care, control treatment costs, and ease the burden of disease.

PMID: 31600481 [PubMed - as supplied by publisher]

Radiation Therapy in Resectable Intrathoracic Sarcomas. A Rare Cancer Network Study.

Int J Radiat Oncol Biol Phys. 2019 04 01;103(5):1175-1181

Authors: Larsen F, Terlizzi M, Linacre V, Sargos P, Suarez F, Kirova Y, Van Houtte P, Lerouge D, Zilli T, Sole CV

Abstract
PURPOSE: Intrathoracic sarcomas (ITS) are considered rare tumors and have a dismal prognosis. We investigated outcomes and risk factors for local control (LC), disease-free survival (DFS), and overall survival (OS) in patients with resected nonmetastatic ITS treated with or without adjuvant radiation therapy (RT) and/or chemotherapy.
METHODS AND MATERIALS: Patients from the Rare Cancer Network database were studied. A Kaplan-Meier estimate was used to assess survival curves, and Cox proportional hazards regression was used to assess risk factors for LC, DFS, and OS.
RESULTS: Between 2000 and 2017, 121 patients met inclusion criteria. The primary site was lung in 30%, mediastinum in 34%, and pleura in 36%. Thirty-nine percent and 32% received RT and chemotherapy. Median follow-up was 34 months (range, 2-141). LC, DFS, and OS at 10 years were 52%, 18.7%, and 7.2%, respectively. In multivariate analysis, RT (P = .003) and R1 margin status (P = .041) retained a significant association with LC. Only R1 resection (P = .002) remained associated with an increased risk of death in multivariate analysis. Overall, 7 patients (6%) developed grade 3 treatment-related chronic toxicity events.
CONCLUSIONS: This joint analysis revealed that OS remains modest in this group of patients, mainly given by the high risk of local and distant failure. Our results suggest that resected ITS can benefit from adjuvant RT.

PMID: 30578911 [PubMed - indexed for MEDLINE]

A rare case of orbital lymphangioma with persistent fetal vasculature and extraorbital vascular malformations treated with intralesional bleomycin.

J AAPOS. 2018 Dec;22(6):471-473.e1

Authors: Hada M, Upadhyay A, Khilnani K, Shekhawat N

Abstract
Orbital lymphangiomas are isolated, benign vascular malformations of childhood. We report a case of orbital lymphangioma with acute intralesional hemorrhage in a 4-year-old boy that was associated with ipsilateral persistent fetal vasculature and extraorbital vascular malformations. Complete resolution of orbital lesion was achieved with chocolate cyst aspiration and intralesional injection of bleomycin.

PMID: 30120984 [PubMed - indexed for MEDLINE]

Cervical subcutaneous emphysema and pneumomediastinum as an unusual complication of idiopathic pulmonary fibrosis.

ANZ J Surg. 2018 10;88(10):E747-E748

Authors: Lococo F, Boracchia L, Rapicetta C, Galeone C, Ricchetti T, Paci M, Sgarbi G

PMID: 27573003 [PubMed - indexed for MEDLINE]

Bizarre cause for abdominal pain in a young female.

ANZ J Surg. 2018 10;88(10):E739-E740

Authors: Shekhar A, Hendahewa R, Jayanna M, Ratnayake S

PMID: 27562877 [PubMed - indexed for MEDLINE]

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med. 2019 Oct 09;:

Authors: Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW

Abstract
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after first contact with the patient. There were no serious adverse events, and treatment was associated with objective reduction in seizures (determined by electroencephalography and parental reporting). This study offers a possible template for the rapid development of patient-customized treatments. (Funded by Mila's Miracle Foundation and others.).

PMID: 31597037 [PubMed - as supplied by publisher]