16 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 2017/12/27

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.

Efficacy of anti-PD-1 on skin carcinomas and melanoma metastases in an Xeroderma Pigmentosum patient.

Br J Dermatol. 2017 Dec 23;:

Authors: Salomon G, Maza A, Boulinguez S, Paul C, Lamant L, Tournier E, Mazereeuw-Hautier J, Meyer N

Abstract
Xeroderma pigmentosum is an orphan disease of poor prognosis. We report one case of parallel efficacy with anti-PD-1 antibody on both melanoma and skin carcinoma in a xeroderma pigmentosum patient. A 17-year old patient presented with metastatic melanoma and multiple non melanoma skin cancers. He was treated with pembrolizumab, a monoclonal anti-PD-1 antibody, at the dose of 2mg/Kg 3 weeks apart. Parallel therapeutic efficacy of anti-PD1 was observed in metastatic melanoma and skin carcinomas, and maintained at week 24. This observation suggests anti-PD1 may be considered in patients with XP and metastatic melanoma as well as advanced non melanoma skin cancer. This article is protected by copyright. All rights reserved.

PMID: 29274233 [PubMed - as supplied by publisher]

Rare autoimmune disorders with Mendelian inheritance.

Autoimmunity. 2016 Aug;49(5):285-97

Authors: Plander M, Kalman B

Abstract
Autoimmune diseases represent a heterogeneous group of common disorders defined by complex trait genetics and environmental effects. The genetic variants usually align in immune and metabolic pathways that affect cell survival or apoptosis and modulate leukocyte function. Nevertheless, the exact triggers of disease development remain poorly understood and the current therapeutic interventions only modify the disease course. Both the prevention and the cure of autoimmune disorders are beyond our present medical capabilities. In contrast, a growing number of single gene autoimmune disorders have also been identified and characterized in the last few decades. Mutations and other gene alterations exert significant effects in these conditions, and often affect genes involved in central or peripheral immunologic tolerance induction. Even though a single genetic abnormality may be the disease trigger, it usually upsets a number of interactions among immune cells, and the biological developments of these monogenic disorders are also complex. Nevertheless, identification of the triggering molecular abnormalities greatly contributes to our understanding of the pathogenesis of autoimmunity and facilitates the development of newer and more effective treatment strategies.

PMID: 27207228 [PubMed - indexed for MEDLINE]

Acquired T-Cell Immunodeficiency in Thymoma Patients.

Crit Rev Immunol. 2016;36(4):315-327

Authors: Christopoulos P, Fisch P

Abstract
Acquired T-cell immunodeficiency can occur in thymoma patients with or without hypogammaglobulinemia (Good's syndrome), but it has received little attention to date. It appears predominantly associated with lymphocyte-rich (i.e., cortical or mixed) thymomas and frequently coexists with autoimmune manifestations. The main abnormalities are an increase in circulating naive T cells, cutaneous T-cell anergy, TCR hyporesponsiveness in vitro as well as a numerical and functional impairment of regulatory T cells. All of these probably result from an abnormal T-cell maturation in the neoplastic thymic microenvironment. A better understanding of thymoma-related acquired T-cell immunodeficiency will be important for immunotherapy of this orphan disease as well as for the prevention and treatment of opportunistic infections, autoimmune complications and secondary malignancies that contribute to the morbidity and mortality of thymoma patients.

PMID: 28322136 [PubMed - indexed for MEDLINE]

Vision for improvement: Expressive writing as an intervention for people with Stargardt's disease, a rare eye disease.

J Health Psychol. 2016 May;21(5):709-19

Authors: Bryan JL, Lu Q

Abstract
This study implemented and evaluated the effectiveness of an expressive writing intervention among patients with Stargardt's disease, a rare disease due to macular degeneration. Participants were randomly assigned to either an expressive writing intervention or a neutral writing condition. Participants completed measures at three time points: baseline, 3 weeks, and 6 weeks post-intervention. Psychological health outcomes improved at the 3-week follow-up for the intervention condition compared to control. Self-reported physical health improved at the 6-week follow-up in the intervention condition compared to control. These results suggest that expressive writing may be an effective, practical, and low-cost intervention for those with Stargardt's disease.

PMID: 24934432 [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 2017/12/19

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 2017/12/19

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.

Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.

World J Pediatr. 2016 Aug;12(3):368-371

Authors: Qian GL, Hong F, Tong F, Fu HD, Liu AM

Abstract
BACKGROUND: Glutaric acidemia type I (GA-I) is a rare metabolic disorder caused by mutation of the glutaryl- CoA dehydrogenase (GCDH) gene. The occurrence of rhabdomyolysis with GA-I is extremely rare.
METHODS: We reported a child with recurrent rhabdomyolysis and undiagnosed glutaric acidemia type I (GA-I). And a literature review was performed.
RESULTS: A 4.5-year-old girl was admitted to our hospital due to recurrent rhabdomyolysis for 3 times within three years. At the third admission, she was diagnosed with GA-I by biochemical testing and mutation analysis. The girl was found to have a serine to leucine replacement mutation of the GCDH gene in exon 8 at position 764. Other three patients with rhabdomyolysis and GA-I were discovered by literature searching.
CONCLUSIONS: This report highlights that patients with GA-I may have an increased risk of rhabdomyolysis.

PMID: 27351573 [PubMed - indexed for MEDLINE]

Recent advances in molecular biology and treatment strategies for intracranial germ cell tumors.

World J Pediatr. 2016 Aug;12(3):275-282

Authors: Huang X, Zhang R, Mao Y, Zhou LF, Zhang C

Abstract
BACKGROUND: Intracranial germ cell tumors (IGCTs) are a group of rare pediatric brain tumors which include various subtypes. The current understanding of the etiology of the tumors and their optimal management strategies remain controversial.
DATA SOURCES: The data on IGCTs were collected from articles published in the past 20 years, and the origin and etiology of IGCTs at molecular level as well as the relative roles of varied treatment strategies in different prognosis groups according to Matsutani's classification were reviewed.
RESULTS: Recent cellular and molecular evidence suggests that IGCTs may arise from the transformation of endogenous brain cells; and findings in the molecular characterization of IGCTs suggest roles of CCND2, RB1, and PRDM14 in the pathogenesis of IGCTs and identify the KIT/RAS and AKT1/mTOR pathways as potential therapeutic targets in future. According to Matsutani's classification of IGCTs, the good prognosis group includes both germinomas and mature teratomas. For germinomas, both radiation alone and reduced-dose radiotherapy in combination with adjuvant chemotherapy are effective, while complete surgical excision is recommended for mature teratomas. In the intermediate prognosis group, immature teratoma has been successfully treated with gamma knife surgery. However, for intermediate prognosis IGCTs other than immature teratomas, gross total resection with adjuvant chemotherapy and radiotherapy or gamma knife surgery may be necessary to achieve cure. In the poor prognosis group, survival outcomes are unsatisfactory, and complete surgical resection combined with more intensive chemotherapy and radiotherapy remains the best available treatment option at this time.
CONCLUSIONS: IGCTs should be strictly classified according to their pathological categories before administering pathology-specific treatments. Although open microsurgical excision is the traditional surgical strategy for IGCTs, recent publications also support the role of endoscopic surgical options for pineal region IGCTs.

PMID: 27351562 [PubMed - indexed for MEDLINE]

[Autoimmune pancreatitis].

Ugeskr Laeger. 2015 Dec 14;177(51):V04150349

Authors: Fjordside E, Novovic S, Schmidt PN, Vind I, Hansen EF

Abstract
Autoimmune pancreatitis (AIP) is a rare inflammatory disease. AIP has characteristic histology, serology and imaging findings. Two types of AIP exist, type 1, which is a part of the systemic immunoglobulin G4-related disease, and type 2, which is only localized to the pancreas. Patients with type 1 are predominantly older men, have involvement of other organs and more often experience relapse than patients with type 2. Both types respond well to steroid treatment. The most important differential diagnose is pancreatic cancer.

PMID: 26692034 [PubMed - indexed for MEDLINE]

[Severe atopic dermatitis caused by rare immunodeficiency in childhood].

Ugeskr Laeger. 2015 Dec 14;177(51):V06150498

Authors: Wolsk HM, Marquart HV, Laub B, Gniadecki R, Nysom K, Ifversen M

Abstract
Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need of awareness of primary immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections.

PMID: 26692033 [PubMed - indexed for MEDLINE]

Neuroendocrine tumors and fibrosis: An unsolved mystery?

Cancer. 2017 Dec 15;123(24):4770-4790

Authors: Laskaratos FM, Rombouts K, Caplin M, Toumpanakis C, Thirlwell C, Mandair D

Abstract
Neuroendocrine tumors are a heterogeneous group of slow-growing neoplasms arising mainly from the enterochromaffin cells of the digestive and respiratory tract. Although they are relatively rare, their incidence is rising. It has long been observed that they often are associated with the development of fibrosis, both local and distant. Fibrotic complications, such as carcinoid heart disease and mesenteric desmoplasia, may lead to considerable morbidity or even affect prognosis. The elucidation of the pathophysiology of fibrosis would be of critical importance for the development of targeted therapeutic strategies. In this article, the authors review the available evidence regarding the biological basis of fibrosis in neuroendocrine tumors. They explore the role of the tumor microenvironment and the interplay between tumor cells and fibroblasts as a key factor in fibrogenesis and tumor development/progression. They also review the role of serotonin, growth factors, and other peptides in the development of carcinoid-related fibrotic reactions. Cancer 2017;123:4770-90. © 2017 American Cancer Society.

PMID: 29112233 [PubMed - indexed for MEDLINE]

Plummer-Vinson Syndrome with Proximal Esophageal Web.

J Gastrointest Surg. 2016 May;20(5):1074-5

Authors: Changela K, Haeri NS, Krishnaiah M, Reddy M

Abstract
Plummer-Vinson Syndrome is a condition where iron deficiency is associated with difficulty swallowing due to the presence of an esophageal web. Deficiency of iron-dependent oxidative enzymes causes gradual degradation of the pharyngeal muscles which lead to mucosal atrophy and formation of webs. Although it is a very rare condition, an increased risk of esophageal squamous cell carcinoma makes its identification very important. Dilation of the esophageal web using a Savary dilator is a more effective and safer approach compared to conventional balloon dilation.

PMID: 26658794 [PubMed - indexed for MEDLINE]

Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex.

Sci Rep. 2017 Dec 11;7(1):17308

Authors: Bizzotto S, Uzquiano A, Dingli F, Ershov D, Houllier A, Arras G, Richards M, Loew D, Minc N, Croquelois A, Houdusse A, Francis F

Abstract
The ventricular zone (VZ) of the developing cerebral cortex is a pseudostratified epithelium that contains progenitors undergoing precisely regulated divisions at its most apical side, the ventricular lining (VL). Mitotic perturbations can contribute to pathological mechanisms leading to cortical malformations. The HeCo mutant mouse exhibits subcortical band heterotopia (SBH), likely to be initiated by progenitor delamination from the VZ early during corticogenesis. The causes for this are however, currently unknown. Eml1, a microtubule (MT)-associated protein of the EMAP family, is impaired in these mice. We first show that MT dynamics are perturbed in mutant progenitor cells in vitro. These may influence interphase and mitotic MT mechanisms and indeed, centrosome and primary cilia were altered and spindles were found to be abnormally long in HeCo progenitors. Consistently, MT and spindle length regulators were identified in EML1 pulldowns from embryonic brain extracts. Finally, we found that mitotic cell shape is also abnormal in the mutant VZ. These previously unidentified VZ characteristics suggest altered cell constraints which may contribute to cell delamination.

PMID: 29229923 [PubMed - in process]

Efficacy of Human Botulism Immune Globulin for the Treatment of Infant Botulism: The First 12 Years Post Licensure.

J Pediatr. 2017 Dec 08;:

Authors: Payne JR, Khouri JM, Jewell NP, Arnon SS

Abstract
OBJECTIVES: To report the efficacy of Human Botulism Immune Globulin Intravenous (BIG-IV) in the first 12 years following its licensure in 2003 and to characterize its use nationwide in treating patients with infant botulism.
STUDY DESIGN: Medical records and billing information were collected for US patients treated with BIG-IV from 2003 to 2015. Length of hospital stay (LOS) and hospital charge information for treated patients were compared with the BIG-IV Pivotal Clinical Trial Placebo Group to quantify decreases in LOS and hospital charges.
RESULTS: The use of BIG-IV reduced mean LOS from 5.7 to 2.2 weeks. This shortened hospital stay resulted in a mean decrease in hospital charges of $88 900 per patient. For all US patients 2003-2015, total decreases in LOS and hospital charges were 66.9 years and $86.2 million, respectively. The decrease in mean LOS was time dependent: BIG-IV treatment on hospital days 0-3 reduced mean LOS by 3.7 weeks (P <.001 vs the BIG-IV Pivotal Clinical Trial Placebo Group), on hospital days 4-7 by 2.6 weeks (P <.001 vs the BIG-IV Pivotal Clinical Trial Placebo Group) and on hospital days 8-10 by just 1 week (P = NS). Since licensure, 1192 patients in 48 states and Washington, DC, have been treated with BIG-IV.
CONCLUSIONS: The use of BIG-IV since its licensure in 2003 treated approximately 93% of US patients with laboratory-confirmed infant botulism, and prevented >65 years in hospital stay and >$85 million in hospital charges from occurring. The greatest LOS reduction was achieved when BIG-IV was administered soon after hospital admission. Effective and appropriate use of BIG-IV in the US has continued in the postlicensure period.

PMID: 29229452 [PubMed - as supplied by publisher]

Medical research: Next decade's goals for rare diseases.

Nature. 2017 08 09;548(7666):158

Authors: Austin CP, Dawkins HJS

PMID: 28796211 [PubMed - indexed for MEDLINE]

Atypical Cutaneous Presentation Of Adult Onset Still Disease.

J Ayub Med Coll Abbottabad. 2016 Apr-Jun;28(2):417-419

Authors: Shah H, Achakzai H, Zuhaid M

Abstract
Adult onset still disease is a rare systemic inflammatory disease which presents with cardinal symptoms of spiking fever, arthralgia, and characteristic non pruritic evanescent salmon pink rash and neutrophilic leukocytosis. However it can have accompanied atypical cutaneous manifestations of pruritic plaques and papules. Clinicians need to be aware of this condition so that they can correctly diagnose it and prevent its serious complications.

PMID: 28718578 [PubMed - indexed for MEDLINE]

11 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 2017/12/12

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.

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 2017/12/09

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.

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 2017/12/09

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.