Thoracic involvement in generalised lymphatic anomaly (or lymphangiomatosis).

Eur Respir Rev. 2016 Jun;25(140):170-7

Authors: Luisi F, Torre O, Harari S

Abstract
Generalised lymphatic anomaly (GLA), also known as lymphangiomatosis, is a rare disease caused by congenital abnormalities of lymphatic development. It usually presents in childhood but can also be diagnosed in adults. GLA encompasses a wide spectrum of clinical manifestations ranging from single-organ involvement to generalised disease. Given the rarity of the disease, most of the information regarding it comes from case reports. To date, no clinical trials concerning treatment are available. This review focuses on thoracic GLA and summarises possible diagnostic and therapeutic approaches.

PMID: 27246594 [PubMed - indexed for MEDLINE]

Why we should care about ultra-rare disease.

Eur Respir Rev. 2016 Jun;25(140):101-3

Authors: Harari S

PMID: 27246584 [PubMed - indexed for MEDLINE]

[Breast implant-associated anaplastic large cell lymphoma. Case report of an undiagnosed form, management and reconstruction (ALCL)].

Ann Chir Plast Esthet. 2016 Jun;61(3):223-30

Authors: Alhamad S, Guerid S, El Fakir EH, Biron P, Tourasse C, Delay E

Abstract
Breast implant-associated anaplastic large cell lymphoma (ALCL) is an extremely rare disease. Is a new nosologic entity with a multifactorial origin and a wide occurrence delay after breast implantation. This article reports the case of a 60 years old patient with a progressive swelling of the right breast after aesthetic breast implants. Diagnostic was delayed because first surgeon was not familiar with the disease. Patient was then referred to us for management. We performed an implant removal and a complete capsulectomy. Pathologic report confirms the diagnostic. After one year and normal ultrasound evaluation, we reconstructed the breast with lipomodeling and mastopexy. Contralateral implant was also removed at time of reconstruction. Vast majority of breast implant-associated ALCL occurs at a time lapse of 11 to 15 years after implant augmentation, with a mean age of 63 years. Among the worldwide 173 cases reported in March 2015, smooth implants seem not to be at risk but 80% of cases were associated with macrotexturized implants. Clinical presentation and diagnostic tools are more and more published but there is to date no recommendation concerning reconstruction delay after implant removal for this pathology. We advise the realization of a breast ultrasound every three months during the first year and wait for a one-year period before reconstruction. In case of aesthetic surgery, mastopexia can be done to allow for glandular shaping. Lipomodeling is an excellent technique to correct the lack of volume due to implant removal. In case of reconstructive setting, implant can be replaced by flap procedure with lipomodeling if needed or lipomodeling alone if recipient site is favorable and patient has enough fat tissue. Contralateral implant should be removed during reconstruction time.

PMID: 27107559 [PubMed - indexed for MEDLINE]

Regarding the past, what is the trial you have always been dreaming of in CIDP?

Rev Neurol (Paris). 2016 Oct;172(10):620-626

Authors: Hughes RA, Lunn MP

Abstract
Chronic inflammatory demyelinating polyradiculoneuropathy is an orphan disease of poorly understood cause. While first line treatments with corticosteroids, intravenous immunoglobulin and plasma exchange have at least short-term efficacy, no trial has shown that immunosuppressants work. In our dream, we will take advantage of the recently improved EU regulations to launch a Europe wide trial which will investigate the cause of the disease. It will compare three parallel groups, the anti-B cell agent rituximab, the anti-T cell agent abatacept and usual care. The trial will not be blinded and the design will be very simple. The primary outcome measure will be improvement from baseline of the overall neuropathy limitations scale (ONLS) score by 1 or more grades at 12 weeks without increase in concomitant corticosteroids or IVIg or use of plasma exchange. There will be an option to substitute improvement in the Rasch-built overall disability scale depending on future experience with that scale as the primary outcome measure. The trial will require 3 groups of 60 participants to detect an increase from 20% in the usual care group to 30% with one of the other agents with a power of 90% and P-value of 5%. It will be larger than any trial of an immunosuppressant agent so far performed in CIDP. However, recruitment will be easier because inclusion criteria will be broad and allow randomisation of any patient in whom their neurologist wishes to introduce an immunosuppressant. Avoidance of blinding and use of simple monitoring with facetime will simplify running the trial and reduce expense. The trial will follow participants and measure outcomes at 12 months. Other outcomes will consist only of grip strength, time to walk 10 m and Euroqol, the last allowing us to estimate the cost per QALY of rituximab or abatacept. Even including central analysis of key biomarkers, the trial will only cost 3 million euros, a fraction of the cost of the usual phase III pharmaceutical company trial.

PMID: 27638135 [PubMed - indexed for MEDLINE]

First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation.

J Dig Dis. 2016 Sep;17(9):628-632

Authors: Scimone C, Donato L, Rinaldi C, Sidoti A, D'Angelo R

PMID: 27335202 [PubMed - indexed for MEDLINE]

Inflammatory Myofibroblastic Tumor of the Lung.

J Coll Physicians Surg Pak. 2016 Apr;26(4):331-3

Authors: Ekinci GH, Haciomeroglu O, Sen AC, Alpay L, Guney PA, Yilmaz A

Abstract
Inflammatory myofibroblastic tumor of the lung is a rare condition, with a reported incidence between 0.04 - 1.2% of all tumors of the lung. We present a case of inflammatory myofibroblastic tumor of the lung. A61-year man presented to the outpatient department complaining of cough and blood-streaked sputum for 5 days. The computed tomography scan of the chest demonstrated a 4.5 x 4 cm, calcified pulmonary mass in the anterior segment of the right upper lobe. Bronchoscophy and computed tomography-guided transthoracic fine needle aspiration was inconclusive. The tumor was removed via wedge resection. Histological and immunohistochemical findings were consistent with inflammatory myofibroblastic tumor of the lung.

PMID: 27097710 [PubMed - indexed for MEDLINE]

Segmental Schwannomatosis of the Spine: Report of a Rare Case and Brief Review of Literature.

Ortop Traumatol Rehabil. 2016 Jan-Feb;18(1):73-8

Authors: Baruah RK, Bora S, Haque R

Abstract
UNLABELLED: To report a case of segmental schwannomatosis involving the dorsal and lumbar spine and describe its excision as well as review of literature on schwannomatosis involving the spine.
SUMMARY OF BACKGROUND DATA: Schwannomas are nerve sheath tumours which usually occur as solitary lesions. Presence of multiple schwannomas suggests a genetic predisposition to tumorogenesis and possible association with neurofibromatosis. However, in very rare cases multiple schwannomas exist without typical features of neurofibromatosis and constitute a clinically and genetically distinct rare syndrome termed schwannomatosis. A 31-year-old female presented with low back pain with left lower limb radiculopathy and sensory deficit over the L4-L5 dermatome. Auditory and ophthalmologic examinations were normal. MRI showed two discrete intradural masses at D12-L2 and L3-L5. MRI of the brain was negative for any vestibular schwannoma. The tumours were excised discretely through a single midline incision to improve the symptoms. HPE of both the tumours revealed them to be schwannomas. Karyotyping from lymphocyte DNA revealed no abnormality.
CONCLUSION: This is the 3rd case of schwannomatosis involving the dorsal and lumbar spine, in which excision of the tumours led to resolution of symptoms.

PMID: 27053311 [PubMed - indexed for MEDLINE]

Using phase II data for the analysis of phase III studies: An application in rare diseases.

Clin Trials. 2017 Mar 01;:1740774517699409

Authors: Wandel S, Neuenschwander B, Röver C, Friede T

Abstract
BACKGROUND: Clinical research and drug development in orphan diseases are challenging, since large-scale randomized studies are difficult to conduct. Formally synthesizing the evidence is therefore of great value, yet this is rarely done in the drug-approval process. Phase III designs that make better use of phase II data can facilitate drug development in orphan diseases.
METHODS: A Bayesian meta-analytic approach is used to inform the phase III study with phase II data. It is particularly attractive, since uncertainty of between-trial heterogeneity can be dealt with probabilistically, which is critical if the number of studies is small. Furthermore, it allows quantifying and discounting the phase II data through the predictive distribution relevant for phase III. A phase III design is proposed which uses the phase II data and considers approval based on a phase III interim analysis. The design is illustrated with a non-inferiority case study from a Food and Drug Administration approval in herpetic keratitis (an orphan disease). Design operating characteristics are compared to those of a traditional design, which ignores the phase II data.
RESULTS: An analysis of the phase II data reveals good but insufficient evidence for non-inferiority, highlighting the need for a phase III study. For the phase III study supported by phase II data, the interim analysis is based on half of the patients. For this design, the meta-analytic interim results are conclusive and would justify approval. In contrast, based on the phase III data only, interim results are inconclusive and require further evidence.
CONCLUSION: To accelerate drug development for orphan diseases, innovative study designs and appropriate methodology are needed. Taking advantage of randomized phase II data when analyzing phase III studies looks promising because the evidence from phase II supports informed decision-making. The implementation of the Bayesian design is straightforward with public software such as R.

PMID: 28387537 [PubMed - as supplied by publisher]

Incidence and Clinical Features of Rare Cutaneous Malignancies in Olmsted County, Minnesota, 2000 to 2010.

Dermatol Surg. 2017 Jan;43(1):116-124

Authors: Tolkachjov SN, Schmitt AR, Muzic JG, Weaver AL, Baum CL

Abstract
BACKGROUND: The incidence of rare cutaneous malignancies is unknown. Current estimates of rare cutaneous malignancy incidences are based on broad epidemiologic data or single institution experiences, not population-based data.
OBJECTIVE: To determine the incidence of several rare nonmelanoma skin cancers.
MATERIALS AND METHODS: The authors conducted a retrospective chart review of a population-based cohort between the years 2000 and 2010. Residents of Olmsted County, Minnesota, who were diagnosed with a biopsy-proven nonmelanoma skin cancer-excluding basal cell carcinoma and squamous cell carcinoma-were included in this study. The primary outcome was tumor incidence. Additionally, the authors extracted patient demographics, tumor characteristics, treatment modalities, and outcomes.
RESULTS: The age-adjusted and sex-adjusted incidences per 100,000 persons of multiple rare cutaneous malignancies were: atypical fibroxanthoma (1.8), sebaceous carcinoma (0.8), dermatofibrosarcoma protuberans (0.4), microcystic adnexal carcinoma (0.7), eccrine carcinoma (0.4), eccrine porocarcinoma (0.2), and leiomyosarcoma (0.2).
CONCLUSION: The authors report population-based incidences and clinical characteristics for these rare cutaneous malignancies. The immune status and smoking status of patients and the treatment and outcomes of these tumors are reported. Additional studies in a broader population are needed to further define the epidemiology and outcomes of these malignancies.

PMID: 28027201 [PubMed - indexed for MEDLINE]

Subcutaneous nasal angioleiomyoma: Case of a rare tumor and review of the literature.

Ear Nose Throat J. 2016 Oct-Nov;95(10-11):E23-E25

Authors: Saadi R, Oberman BS, Crist H, Lighthall J

Abstract
We describe the case of a 46-year-old woman with a rare presentation of angioleiomyoma of the subcutaneous nasal tissue. The patient presented with pain and severe nasal obstruction. Her nasal deformity was sufficient to indicate an external rhinoplasty for both extirpation of the tumor and reconstruction of the defect with cartilage grafts. The procedure resulted in successful removal of the tumor and a satisfactory cosmetic outcome.

PMID: 27792829 [PubMed - indexed for MEDLINE]

Translating Aboriginal genomics - four letters Closing the Gap.

Med J Aust. 2016 Oct 17;205(8):379

Authors: Baynam GS, Pearson G, Blackwell J

PMID: 27736627 [PubMed - indexed for MEDLINE]

Pulmonary complications of type 1 neurofibromatosis.

Rev Mal Respir. 2016 Jun;33(6):460-73

Authors: Reviron-Rabec L, Girerd B, Seferian A, Campbell K, Brosseau S, Bergot E, Humbert M, Zalcman G, Montani D

Abstract
INTRODUCTION: Type 1 neurofibromatosis is one of the most common genetic diseases, with an incidence of 1/3500 live births. Its diagnosis primarily relies on the clinical features of the condition.
CURRENT KNOWLEDGE: The life expectancy of these patients is reduced by 10 years, on average, compared to the general population. Type 1 neurofibromatosis has been shown to increase the risk of various types of neoplasia, primarily those affecting the neural crest. In addition, interstitial lung disease, lung cancer, and pulmonary hypertension have been observed during the third or the fourth decade of an adult's life.
PERSPECTIVES: There are only few case reports available that address the pulmonary complications of neurofibromatosis type 1. It is thus crucial to fully understand this rare disease and its potential complications in order to allow for early diagnosis so we are able to improve the quality of life and survival of those suffering from the condition.
CONCLUSIONS: The pulmonary complications of type 1 neurofibromatosis can be severe and life-threatening. Patients with this condition should thus undergo regular clinical visits and examinations to allow pulmonary complications to be detected and treatment to be initiated as early as possible.

PMID: 26868668 [PubMed - indexed for MEDLINE]

[Pichia guilliermondii Infection - A Rare Differential Diagnosis of Pulmonary Nodules].

Pneumologie. 2016 Sep;70(9):605-7

Authors: Frenzen F, Röder C, Wollschläger B, Großer E, Krohe K, Schmidt B

Abstract
UNLABELLED: A patient presented himself with pungent, breath-dependent right chest pain and dyspnea at rest in our emergency department. The physical examination and the ECG revealed no relevant findings. The laboratory results showed an increased CRP, leukocytosis, elevated D-dimers and a respiratory partial insufficiency. In the thoracic CT angiography unclear pulmonary nodules (PN) were seen. The bronchoscopy was macroscopically normal. In the BAL yeasts and a high proportion of immune senescence cells (CD57+) were identified. After a pulmonary wedge resection resulted histologically an epithelioid cell-granulomatous inflammation. Molecular pathological a mycelium genome, in particular Pichia guilliermondii (PC) was detected. The therapy with fluconazole was successful. PC rarely causes candidemia, increased in immunocompromised patients. In our judgement this is in Europe the first described case of PC-infection in a patient, which presented no predisposition to infection with opportunistic pathogens apart from type 2 diabetes.
CONCLUSION: It should be thought of fungal infection by these pathogens group in case of unclear PN, especially in combination with possibly predisposing factors.

PMID: 27603949 [PubMed - indexed for MEDLINE]

Exome sequencing a review of new strategies for rare genomic disease research.

Genomics. 2016 10;108(3-4):109-114

Authors: Brown TL, Meloche TM

Abstract
The journey related to genomic information access and utilization by researchers and clinicians has barely begun to be travelled. There remains a broad horizon in the research and clinical arenas for fulfillment of that journey. Exciting is the potential depth and breadth of research, clinical applications, and more personalized medicine, that remain on the horizon. Exome sequencing has clarified the responsibilities of over 130 genes, greatly expanding the medical genetics database and enabling the development of orphan disease-based pharmaceuticals. Our research focus was to review >50 literature sources that related to rare genomic disease research and exome sequencing, as well as the new research and diagnostic strategies that were utilized. Using a systems approach, under discussion are ciliopathy, dermatology, otorhinolaryngology, immunology, gastroenterology, hematopoiesis, metabolic diseases, and the cardiovascular system. Also discussed are genetic, syndromic, and mitochondrial exome research. Recommendations for future research will also be discussed.

PMID: 27387609 [PubMed - indexed for MEDLINE]

[The use of Facebook in Spanish associations of rare diseases: how and what is it used for?].

Gac Sanit. 2015 Sep-Oct;29(5):335-40

Authors: Armayones M, Requena S, Gómez-Zúñiga B, Pousada M, Bañón AM

Abstract
OBJECTIVE: To study whether the use of Facebook is widespread in the field of patient associations for rare diseases and, if so, the purpose for which the site is being used.
METHOD: A descriptive study was conducted to determine whether associations within the Spanish Federation for Rare Diseases use Facebook and, if so, the type of use and its objectives. The analysis was performed based on a categorization system that has been used in the field of chronic diseases and has been adapted to the specific characteristics of rare diseases.
RESULTS: Associations use Facebook to raise awareness of rare diseases in general and particularly to share content related to psychological, medical and social support, the promotion and dissemination of research, and fundraising.
CONCLUSIONS: The alignment between the interests of associations through their presence on Facebook and policy areas of the national strategy for rare diseases is a reason for optimism about the feasibility of using Facebook as a tool for encounters and collaborative work.

PMID: 26145457 [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 2017/04/04

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.

24 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 2017/04/01

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.

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 2017/03/31

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.

Association of Vogt Koyanagi Harada Syndrome and Seronegative Rheumatoid Arthritis.

Ethiop J Health Sci. 2016 Mar;26(2):193-6

Authors: Aydin T, Taspinar O, Guneser M, Keskin Y

Abstract
BACKGROUND: Vogt Koyanagi Harada (VKH) Syndrome is a rarely-seen multi-systemic, autoimmune and inflammatory disease. It observed frequently with neurologic, auditory and skin manifestations and characterized with bilateral, chronic and diffused granulomatous panuveitis. It generally affects women in young-adult period.
CASE: A 57 year-old female patient applied to a special center one year ago with a complaint of decrease in the sight acuity of the right eye. The right eye was operated on with cataract diagnosis. Uveitis was developed firstly in the right eye and then in the left eye after the operation. Having complaints about uveitis, tinnitus and hear loss, the patient was diagnosed with VKH syndrome. The pains started to be felt in small hand joints and both of the two ankles. The pains were increasing especially in the mornings and during rest. The duration of morning stiffness was two hours in hand and foot joints. The patient had had lumbar pain with mechanic characteristic for five years.
CONCLUSION: Being diagnosed with seronegative rheumatoid arthritis (RA), our case is presented because VKH syndrome is rarely seen in Turkey, and the joint findings are at the forefront.

PMID: 27222633 [PubMed - indexed for MEDLINE]

The Patient Educator Presentation in Dental Education: Reinforcing the Importance of Learning About Rare Conditions.

J Dent Educ. 2016 May;80(5):533-41

Authors: Edwards PC, Graham J, Oling R, Frantz KE

Abstract
The aim of this study was to determine whether a patient educator presentation (PEP) on pemphigus vulgaris would increase second-year dental students' awareness of the importance of learning about rare conditions and improve their retention of rare disease knowledge. The study involved students' subjective assessments of a PEP experience at two U.S. dental schools. In this mixed methods study, cross-sectional data were obtained by surveys and in-depth interviews. Questions focused on students' assessment of the messages acquired from the PEP and its likely impact on their future clinical care. At University 1, students completed paper surveys with open-ended questions and participated in a focus group. At University 2, students completed an online survey consisting of rating scale and open-ended questions. Responses to open-ended questions were categorized into themes. At University 1, 79 students (out of a possible 102; response rate 77.5%) completed the survey, and an additional ten students participated in a focus group. At University 2, 30 students (out of a possible 104; response rate 28.8%) completed the survey. At Universities 1 and 2, 88% and 100%, respectively, of respondents stated the PEP would influence their future clinical decision making. The vast majority of respondents (94% and 100% at University 1 and University 2, respectively) were of the opinion that the personal testimonial from a patient would help them recall information about pemphigus vulgaris in five years' time. Respondents from both universities commented that the PEP emphasized the importance of not dismissing a patient's concerns. These results suggest that a presentation by a patient with a rare condition can be an effective educational tool for preclinical dental students.

PMID: 27139204 [PubMed - indexed for MEDLINE]