Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.

J Neuromuscul Dis. 2018;5(2):131-133

Authors: Lochmüller H, Evans D, Farwell W, Finkel R, Goemans N, de Lemus M, Matyushenko V, Muntoni F, Ouillade MC, Schwersenz I, Wilson P

PMID: 29865093 [PubMed - indexed for MEDLINE]

A voice for orphans.

Lab Anim (NY). 2017 08 31;46(9):339-342

Authors: Neff EP

PMID: 29296010 [PubMed - indexed for MEDLINE]

Laparoscopic Reduction of a Foramen of Winslow Internal Hernia Causing Transaminitis.

Am Surg. 2017 Jul 01;83(7):e238-239

Authors: Lyons R, Sayles J

PMID: 28738923 [PubMed - indexed for MEDLINE]

Excision of a Presacral Ganglioneuroma in a Young Man.

Am Surg. 2017 Jul 01;83(7):e228-230

Authors: O'Halloran EA, Ding X, Hayden DM, Saclarides TJ, Eberhardt JM

PMID: 28738920 [PubMed - indexed for MEDLINE]

Orphan Drugs and Their Impact on Pharmaceutical Development.

Trends Pharmacol Sci. 2018 06;39(6):525-535

Authors: Attwood MM, Rask-Andersen M, Schiöth HB

Abstract
High levels of productivity, with an increasing number of approvals for new molecular entities (NMEs) by the FDA during the past decade, have coincided with the emergence of innovative drugs for treatments of rare diseases that have utilized the FDA orphan drug program. Since 2000, NMEs with orphan designation encompass a significant portion of approved drugs and constitute about 80% of the approved drugs that have established novel human genome-encoded products in recent years. Biological approvals are also expanding, with 40% of the approved biological agents having orphan designation. This trend illustrates a pivot within the pharmaceutical industry: from research programs that focus on canonical blockbuster indications and targets, towards the establishment of new treatments for rare and difficult to treat diseases.

PMID: 29779531 [PubMed - indexed for MEDLINE]

Resection of an intra-esophageal bronchogenic cyst by endoscopic submucosal dissection.

Dig Endosc. 2018 03;30(2):263

Authors: Raptis A, Deprez PH, Jouret-Mourin A

PMID: 29164672 [PubMed - indexed for MEDLINE]

A RARE CASE OF MIXED PHENOTYPE ACUTE LEUKEMIA- B/T CELL TYPE.

J Clin Exp Hematop. 2017;57(2):82-83

Authors: Monica J, Dipali M, Pragya S, Nihar J

PMID: 29021517 [PubMed - indexed for MEDLINE]

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 2018/10/31

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.

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 2018/10/31

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.

Myeloid sarcoma of the small intestine in a patient without overt acute myeloid leukaemia: a challenging diagnosis of a rare condition.

BMJ Case Rep. 2018 May 30;2018:

Authors: Nemésio RA, Costa B, Abrantes C, Leite JS

Abstract
Myeloid sarcoma (MS) is a rare condition that most commonly occurs in the setting of acute myeloidleukaemia (AML) or other chronic myeloproliferative disorders. It presents as an abnormal growth that can develop anywhere in the human body, and its clinical manifestations are often non-specific.We present the case of a patient admitted to the emergency room with bowel obstruction. After careful clinical assessment, she underwent a right hemicolectomy. After a thorough examination of the surgical pathology specimen, including testing a wide array of immunohistochemical markers, the patient was timely diagnosed with MS, allowing for the implementation of the appropriate treatment to achieve complete remission. This is crucial, since non-leukaemic patients with untreated MS always progress to AML, and have a better prognosis if adequate therapy is implemented early. Our patient is now in the second postoperative year and shows no signs of relapse.

PMID: 29848520 [PubMed - indexed for MEDLINE]

Pityriasis rotunda. A clinical study in Jordan: experience of 10 years.

Int J Dermatol. 2018 Jul;57(7):759-762

Authors: Al-Refu K, Al-Tarawneh A, Odeibat H

Abstract
BACKGROUND: Pityriasis rotunda is a rare skin disease characterized by the presence of multiple, round or oval, sharply demarcated hyperpigmented scaly patches. It has been described in Japan, South Africa, and in some other countries. The cause of pityriasis rotunda is usually idiopathic but may be associated with certain internal malignancy or systemic diseases.
OBJECTIVE: The aim of this study is to describe this rare entity in Jordan in a retrospective study during the last 10 years. Jordan, as a Middle Eastern country, had no previous reports about this rare disease. In addition, the intention was to report any systemic association with the disease. Some of the cases were examined by dermoscopy. No previous reports documented dermatoscopic features of the disease.
RESULTS: We could report 23 cases during the last 10 years. Eighteen cases were females and five males, in an age range of 9-38 years. There were three familial cases. The dermatoscopic findings were well demarcated, hyperpigmented with brownish patches with polygonal scales. These scales were more defined, not homogeneous in color, and separated from each other by paler stria.
CONCLUSIONS: The cases of the study seem to indicate the rarity of the disease in Jordan. Our case fits neatly into the benign form of the disease with lack of association with any underlying diseases.

PMID: 29774541 [PubMed - indexed for MEDLINE]

Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.

Intern Med. 2018 Aug 15;57(16):2425-2429

Authors: Kimura K, Mizooka M, Migita K, Ishida R, Matsumoto M, Yamasaki S, Kishikawa N, Kawahara A, Kikuchi Y, Otani Y, Kobayashi T, Miyamori D, Ikuta T, Nakamura H, Yokobayashi K, Iwamoto S, Kanno K, Ohira H, Tazuma S

Abstract
Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of Mediterranean fever (MEFV) detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients. One patient with an S503C mutation showed resistance. Physicians should be aware of the characteristic symptoms, as well as the more unusual symptoms such as headache, when diagnosing FMF.

PMID: 29526930 [PubMed - indexed for MEDLINE]

Renal fungus ball in a patient with retroperitoneal fibrosis: Unique complication in a rare disease.

Mycoses. 2018 Jun;61(6):410-416

Authors: Alobaid K, Faty M, El-Nahas A, Al-Terki A, Khan Z

Abstract
Candida fungus ball is a rare presentation of urinary tract infections among adult patients and is associated with considerable morbidity. Because clinical signs are not specific, diagnosis is often delayed. Furthermore, treatment is occasionally difficult, and the approach to such cases varies widely among different centers. In this report, we describe a patient with retroperitoneal fibrosis who developed a renal fungus ball. Management of this challenging case is discussed, and review of the literature is presented.

PMID: 29430718 [PubMed - indexed for MEDLINE]

Devil hepatitis D: an orphan disease or largely underdiagnosed?

Gut. 2018 Oct 27;:

Authors: Wedemeyer H, Negro F

PMID: 30368454 [PubMed - as supplied by publisher]

Leiomyosarcoma: a rare but fatal tumour of the inferior vena cava.

BMJ Case Rep. 2017 Apr 27;2017:

Authors: Albaghdadi A, Teleb M, Liu C, Agrawal H

PMID: 28450471 [PubMed - indexed for MEDLINE]

[Hemophagocytic Lymphohistiocytosis].

Praxis (Bern 1994). 2018 Aug;107(16):902-911

Authors: Stalder G, Ribi C, Duchosal MA

Abstract
Hemophagocytic Lymphohistiocytosis Abstract. Hemophagocytic lymphohistiocytosis (HLH) is a group of rare diseases characterized by over-activation of the immune system. They form two groups: primary and secondary HLH. Primary HLH are linked to mutations impairing lymphocyte cytotoxicity. Secondary HLH are triggered by infections, autoimmune diseases or neoplasia, the remaining cases being labeled idiopathic. HLH manifest as febrile states, cytopenias and hepatosplenomegaly. In the absence of treatment, they quickly lead to multiple organ failure. The diagnosis is currently based on the presence of several clinical and biological markers. Treatment consists of suppression of the triggering factor, organ support and immunosuppression. Primary forms, affecting a pediatric population, have been the subject of intense research, and are nowadays treated with established therapeutic protocols. Several recent retrospective studies have improved our knowledge of secondary HLH, which affects mostly adults and whose incidence seems to be increasing. Thus, new diagnostic criteria are currently being studied for secondary HLH, and several treatment protocols have just been published or are being evaluated.

PMID: 30086687 [PubMed - indexed for MEDLINE]

Hemophilia Burden of Disease: A Systematic Review of the Cost-Utility Literature for Hemophilia.

J Manag Care Spec Pharm. 2018 Jul;24(7):632-642

Authors: Thorat T, Neumann PJ, Chambers JD

Abstract
BACKGROUND: Prophylaxis with clotting factor replacement products is recommended by the Medical and Scientific Advisory Council of the National Hemophilia Foundation as the optimal therapy for the prevention of bleeding episodes in individuals with severe hemophilia A or B (< 1 IU per dL endogenous factor VIII or factor IX activity, respectively). Prophylaxis is associated with an improved health-related quality of life and has been shown to be cost-effective compared with on-demand therapy. However, the overall cost of treatment remains high, particularly among patients with a greater propensity to bleed. The overall value of hemophilia treatments and their associated benefits, measured in quality-adjusted life-years (QALYs), and dollar costs compared with other interventions can be evaluated through the use of cost-utility analyses (CUAs). Previous CUA studies in hemophilia have focused primarily on patients with more severe forms of hemophilia and on prophylaxis compared with on-demand treatment. However, to our knowledge, no studies to date have utilized QALYs as a standardized outcome measure to systematically evaluate the relative cost-effectiveness of current hemophilia treatment options.
OBJECTIVE: To systematically review the CUA literature of hemophilia treatments and demonstrate the challenges in producing cost-utility evidence compared with other rare diseases.
METHODS: We conducted a systematic literature review using the Tufts Medical Center Cost-Effectiveness Analysis Registry and the National Health Service Economic Evaluation Database for English-language CUAs published from 2000 through 2015 with the search terms hemophilia, haemophilia, factor VIII, or factor IX. Two trained reviewers independently reviewed every study to extract relevant data. Incremental cost-effectiveness ratios were converted to 2014 U.S. dollars using exchange rates for currency conversion and the Consumer Price Index to adjust for inflation.
RESULTS: Our search yielded 52 studies, 11 of which met our inclusion criteria. The cost-effectiveness of hemophilia treatments varied widely based on variations in the study designs, including differences in time horizon, discount rates, and medical interventions.
CONCLUSIONS: We found the cost-effectiveness of hemophilia treatments to be broadly comparable to that of other orphan drugs. Improved standardization of future CUA studies will be important for further evaluation of the cost-effectiveness of hemophilia treatments.
DISCLOSURES: This research was funded by Biogen, which provided an unrestricted research grant to the Center for the Evaluation of Value and Risk in Health at Tufts Medical Center. Biogen and Sobi reviewed and provided feedback on the manuscript. The authors had full editorial control of the manuscript and provided final approval of all content. The authors report no conflict of interest regarding the material discussed in this article. Neumann and Chambers are employed at the Center for the Evaluation of Value and Risk in Health at Tufts Medical Center. Thorat was an employee of Center for Evaluation Value and Risk in Health, Tufts Medical Center when the analyses were carried out. Chambers has participated on advisory boards for Sanofi and Astellas Pharma.

PMID: 29952709 [PubMed - indexed for MEDLINE]

[Pulmonary veno-occlusive disease].

Rev Mal Respir. 2018 Feb;35(2):160-170

Authors: Boucly A, Girerd B, Bourlier D, Nemlaghi S, Caliez J, Savale L, Jaïs X, Dorfmüller P, Simonneau G, Sitbon O, Humbert M, Montani D

Abstract
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterized by preferential remodelling of pulmonary venules and angioproliferation. PVOD term includes idiopathic, heritable (biallelic mutations of EIF2AK4 gene), drugs and toxins induced (alkylating agents, organic solvents) and connectivite-associated forms (especially systemic-sclerosis associated form). PVOD and pulmonary arterial hypertension (PAH) share a similar clinical presentation. Lung biopsy is contraindicated in PVOD due to high risk of life-threatening bleeding. A noninvasive diagnostic approach, including oxygen parameters, low diffusing capacity for carbon monoxide and characteristic signs on high-resolution computed tomography of the chest, is used to support a diagnosis of PVOD. PVOD prognosis is worse than other forms of PAH. There is no evidence-based medical therapy for PVOD and life-threatening pulmonary edema may occur following PAH targeted therapy in PVOD. Lung transplantation remains the preferred definitive therapy for eligible patients.

PMID: 29501213 [PubMed - indexed for MEDLINE]

Mammary Analogue Secretory Carcinoma of the Thyroid Mimicking Locally Advanced Papillary Thyroid Carcinoma: A Rare Case Report.

Int J Surg Pathol. 2018 Aug;26(5):459-463

Authors: Liao H, Khan A, Miron PM, Cornejo KM

Abstract
Mammary analogue secretory carcinoma (MASC) harboring ETV6 gene rearrangements was first described in the salivary gland with a relatively favorable prognosis and a possible molecular therapeutic target with pan-Trk inhibitors. Recently, primary MASC of the thyroid gland has been reported. We report a case of a 4.0 cm MASC arising from the left thyroid of a 58-year-old female with extrathyroidal extension. Initially, it was diagnosed by fine needle aspiration as suspicious for papillary thyroid carcinoma (PTC) and subsequently called a poorly differentiated carcinoma on resection. A final diagnosis of primary MASC of the thyroid was confirmed after an expanded immunohistochemical panel and identification of an ETV6 gene rearrangement by fluorescence in situ hybridization. Morphologically, the tumor was composed of solid, microcystic and focally papillary growth with dense fibrotic stroma and necrosis. Overlapping cytological features with PTC were identified, including foci of enlarged cells with irregular nuclear membranes/grooves. However, most of the cells contained prominent nucleoli with intraluminal and intracytoplasmic eosinophilic secretions. Immunohistochemically, the tumor cells were strongly positive for pancytokeratin, cytokeratin 7, PAX8, mammaglobin, and GCDFP-15, with rare staining for GATA3 and S100 and negative for TTF-1 and thyroglobulin. We report a rare case of a primary thyroid MASC, initially misdiagnosed as PTC. Pathologists should be aware of this entity and, given the similarities to PTC, have a high index of suspicion, prompting the addition of immunohistochemical and molecular studies. Furthermore, an accurate diagnosis is important because of the possible prognostic and treatment implications.

PMID: 29228842 [PubMed - indexed for MEDLINE]

Autoinflammatory syndromes: rare diseases with important implications in quality of life.

Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):1

Authors: Appenzeller S, Martini A

PMID: 27267326 [PubMed - indexed for MEDLINE]