Double Extramedullary Plasmacytoma of the Stomach with a Long-term Endoscopic Follow-up.

Intern Med. 2016;55(24):3585-3590

Authors: Doi A, Sumiyoshi T, Omori Y, Oyamada Y, Kumano K, Yoshizaki N, Hirayama M, Suzuki Y, Okushiba S, Kogawa T, Doi T, Kondo H

Abstract
A 56-year-old woman was referred to our hospital with a growing gastric submucosal tumor. An upper endoscopic examination revealed two gastric tumors, an original polypoid tumor and a newly diagnosed superficial tumor. Boring biopsied specimens of the submucosal tumor showed gastric plasmacytoma; however, the other specimens showed no malignancy. Blood diseases were ruled out using various examinations; therefore, we diagnosed the tumor as extramedullary gastric plasmacytoma. The patient underwent laparoscopic distal gastrectomy, and both tumors were thus revealed to be plasmacytomas. We experienced a rare case with two differently shaped extramedullary gastric plasmacytomas without significant morphologic change during the follow-up.

PMID: 27980257 [PubMed - indexed for MEDLINE]

Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders.

Thromb Res. 2016 Dec;148:128-134

Authors: Palla R, Siboni SM, Menegatti M, Musallam KM, Peyvandi F, European Network of Rare Bleeding Disorders (EN-RBD) group

Abstract
INTRODUCTION: Bleeding manifestations among patients with rare bleeding disorders (RBDs) vary significantly between disorders and patients, even when affected with the same disorder. In response to the challenge represented by the clinical assessment of the presence and severity of bleeding symptoms, a number of bleeding score systems (BSSs) or bleeding assessment tools (BATs) were developed. The majority of these were specifically developed for patients with more common bleeding disorders than RBDs. Few RBDs patients were evaluated with these tools and without conclusive results.
METHODS: A new BSS was developed using data retrieved from a large group of patients with RBDs enrolled in the EN-RBD database and from healthy subjects. These data included previous bleeding symptoms, frequency, spontaneity, extent, localization, and relationship to prophylaxis and acute treatment. The predictive power of this BSS was also compared with the ISTH-BAT and examined for the severity of RBDs based on coagulant factor activity.
RESULTS: This BSS was able to differentiate patients with RBDs from healthy individuals with a bleeding score value of 1.5 having the highest sum of sensitivity (67.1%) and specificity (73.8%) in discriminating patients with RBD from those without. An easy-to-use calculation was also developed to assess the probability of having a RBD. Its comparison with the ISTH-BAT confirmed its utility. Finally, in RBDs patients, there was a significant negative correlation between BS and coagulant factor activity level, which was strongest for fibrinogen and FXIII deficiencies.
CONCLUSION: The use of this quantitative method may represent a valuable support tool to clinicians.

PMID: 27855295 [PubMed - indexed for MEDLINE]

New funding cap for cancer drugs.

Nurs Stand. 2016 Jun 01;30(40):22-3

Authors: Dix A

PMID: 27275892 [PubMed - indexed for MEDLINE]

Rare presentation of pseudosequestration in childhood: CT and CT angiography findings.

Clin Respir J. 2017 Jan;11(1):113-116

Authors: Gormez A, Ozcan HN, Oguz B, Yalçın E, Ariyurek M, Haliloglu M, Emiralioglu N

Abstract
Anomalous systemic arterial supply to the lungs with normal bronchial branching and pulmonary arterial supply is an unusual variant of the sequestration spectrum. Pseudosequestration is referred as the combination of systemic arterial supply to lung with normal bronchial connection. Thorax computed tomography (CT) and CT angiography are non-invasive and useful techniques in making the definitive diagnosis. Herein, we report two paediatric patients with anomalous systemic arterial supply to normal basal segments of the lower lobes.

PMID: 25833377 [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 2017/04/15

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.

Baby genome screening needs more time to gestate.

Science. 2016 Oct 28;354(6311):398-399

Authors: Kaiser J

PMID: 27789817 [PubMed - indexed for MEDLINE]

Rare Head and Neck Tumors Resulting in Upper Airway Compromise.

Pediatr Emerg Care. 2016 Sep;32(9):648-9

Authors: Gupton T

PMID: 27585129 [PubMed - indexed for MEDLINE]

Neutrophilic progression in a case of polycytemia vera mimicking chronic neutrophilic leukemia: clinical and molecular characterization.

Pathol Res Pract. 2015 Apr;211(4):341-3

Authors: Castelli R, Cugno M, Gianelli U, Pancrazzi A, Vannucchi AM

Abstract
BACKGROUND: In a small subset of polycytemia vera (PV), neutrophilia not secondary to reactive conditions or treatment can develop and persist. Clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined.
CASE REPORT: An 81-year-old Caucasian woman, affected by polycytemia vera lasting 17 years, presented in March 2012 with hyperleukocytosis, absolute neutrophilia, and thrombocytosis despite hydroxyurea treatment. All other laboratory parameters were normal, except for an increased neutrophil alkaline phosphatase and lactate dehydrogenase. Reactive neutrophilia due to infection or neoplasia have been ruled out by a total body computerized tomography scan, and by low levels of C reactive protein. Re-evaluation of bone marrow showed hypercellular smears with expansion of granulopoiesis while immature granulocytes were <10% and myeloblasts were <1%. Bone marrow trephine biopsy showed hypercellular marrow, with panmyelosis, increased myeloid/erithroid ratio, polymorphic clusters of megakaryocytes. A loose network of reticulin fibers with many intersections was identified by means of Gomori's silver impregnation. There were no hybrid BCR/ABL gene transcripts of p210, p190 and p230, no mutations in platelet derived growth factor receptors alpha and beta. Flow cytometry on the aspirate showed that CD34+ CD117+ myeloblasts constituted less than 1% of total marrow nucleated cells, mature granulocytes demonstrated persistent expression of CD33. Mutational analysis of the gene CSF3R by PCR amplification revealed no alterations in exons 14-17, including codons 615 and 618. The case presented here represents a possible evolution of PV, albeit very rare.
CONCLUSIONS: The condition described here differs from the CNL for the persistence of morphological pictures typical of myeloproliferative diseases, for absence of CSF3R gene mutations and for the hyper expansion of the mature granulopoietic series. The clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined.

PMID: 25480691 [PubMed - indexed for MEDLINE]

Tracheobronchopathia osteochondroplastica: a review of the literature.

Clin Respir J. 2015 Oct;9(4):386-91

Authors: Ulasli SS, Kupeli E

Abstract
BACKGROUND: Tracheobronchopathia osteochondroplastica (TBPOCP) is an uncommon benign condition affecting the lumen of tracheobronchial tree and characterized by abnormal chondrification and ossification. TBPOCP is more frequent than it has been reported, as it can be asymptomatic or present with non-specific respiratory symptoms.
AIMS: In this article, we provide a review of the English literature on the condition and discuss its clinical features, general principles, diagnostic approaches and current treatment recommendations for TBPOCP.
METHODS: We searched for all papers indexed in Science Citation Index and Science Citation Index - Expanded by using Thomson Reuters Web of Knowledge Web of Science software.
RESULTS: We reviewed a total of 72 scientific publications.
CONCLUSION: In order to highlight, diagnosis, treatment and treatment outcomes of TBPOCP, further review articles and large case series about this orphan disease are needed.

PMID: 24865333 [PubMed - indexed for MEDLINE]

Rare primary mucosal melanoma of the larynx.

Ear Nose Throat J. 2016 Dec;95(12):E28-E31

Authors: Blanchard A, Nguyen JB, Daroca P, Friedlander P, Lewin E, Vu J, Palacios E

Abstract
Few cases of primary mucosal melanoma of the larynx have been documented in the literature, so only a limited amount of data exists regarding its diagnosis and treatment. The prognosis is poor, as patients often present at a late stage with regional or distant metastases. We describe the case of a 66-year-old man who presented with hoarseness and dysphagia. Laryngoscopy identified a dark discoloration of the supraglottic larynx and incomplete mobility of the right vocal fold; an excisional biopsy confirmed the diagnosis. We discuss the epidemiology, clinical features, diagnosis, interpretation of imaging findings, and management of this rare malignant melanoma.

PMID: 27929604 [PubMed - indexed for MEDLINE]

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]