Primitive neuroectodermal tumour of the cervix: a rare diagnosis.

BMJ Case Rep. 2017 Jan 04;2017:

Authors: Ahmad I, Chufal KS, Bhargava A, Bashir I

Abstract
A 48-year-old woman presented with symptoms of lower abdominal pain and vaginal discharge for 6 months. Clinical examination and pelvic ultrasound scan suggested a diagnosis of infected Gartner's cyst, for which she underwent vaginal cystectomy. However, histopathology and immunohistochemistry revealed a diagnosis of primitive neuroectodermal tumour of the cervix. Further investigations revealed the stage to be FIGO IIIB, which was inoperable. She received neoadjuvant chemotherapy (vincristine, adriamycin, cyclophosphamide alternating with ifosfamide, cisplatin and etoposide, every 21 days), but the tumour did not respond to treatment and she was started on radiotherapy with definitive intent (55.8 Gray in 31 fractions over 6.2 weeks). A PET-CT performed 2 months after completion of radiotherapy showed complete response, and she is now receiving adjuvant chemotherapy.

PMID: 28052947 [PubMed - indexed for MEDLINE]

Drug repositioning in sarcomas and other rare tumors.

EBioMedicine. 2016 Apr;6:4-5

Authors: Lee AT, Huang PH, Pollack SM, Jones RL

PMID: 27211532 [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 2017/03/04

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.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Nat Genet. 2017 Feb 27;:

Authors: Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW

Abstract
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white-matter tracts throughout the human central nervous system (CNS), including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white-matter projections throughout the human CNS.

PMID: 28250456 [PubMed - as supplied by publisher]

Should clinical trials be approached differently for rare cancers?

Future Oncol. 2016 May;12(10):1207-9

Authors: Olver I

PMID: 26939845 [PubMed - indexed for MEDLINE]

Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician's guide.

Ther Adv Hematol. 2017 Mar;8(3):119-126

Authors: Griffin M, Munir T

Abstract
Paroxysmal nocturnal haemoglobinuria (PNH), an ultra-orphan disease with a prevalence of 15.9 per million in Europe, is a life-threatening disorder, characterized by haemolysis, bone marrow failure and thrombosis. Patients with PNH prior to the availability of eculizumab had a median survival of between 10 and 22 years, with thrombosis accounting for 22-67% of deaths. 29-44% of patients had at least one thrombosis. This paper provides a clinician's guide to the diagnosis, management and complications of PNH, with an emphasis on thrombosis.

PMID: 28246555 [PubMed - in process]

Lung Metastasis Presenting as Rectal Mass.

Am Surg. 2016 Nov 01;82(11):294-295

Authors: Jarrard JA, Thompson WM, Cudnik JS

PMID: 28206913 [PubMed - indexed for MEDLINE]

[Not Available].

Tidsskr Nor Laegeforen. 2016 Aug;136(14-15):1198-9

Authors: Arntzen KA, Lund I, Rasmussen M, Rønningen KE, Torp TI, Ørstavik K

PMID: 27554555 [PubMed - indexed for MEDLINE]

Solitary circumscribed neuroma of the palpebral conjunctiva: A rare location.

Cont Lens Anterior Eye. 2016 Dec;39(6):471-473

Authors: Ishida Y, Takahashi Y, Takahashi E, Kakizaki H

Abstract
PURPOSE: To report a case with solitary circumscribed neuroma (SCN) in the palpebral conjunctiva.
METHODS: This is a retrospective observational case report of a 78-year-old female who showed a yellowish, smooth-surface, dome-shaped mass in the right lower palpebral conjunctiva near the punctum. The mass was completely removed under local anesthesia.
RESULTS: Pathological examination revealed that it was composed of benign spindle-shaped cells and tapering nuclei arranged in bundles. Immunocytochemical analyses for the S100, neurofilament, CD34, and epithelial membrane antigens were all positive. These pathological findings were consistent with a SCN. At the 6-month follow-up, there was no evidence of recurrence.
CONCLUSION: This is the first case report of SCN in the palpebral conjunctiva. Although SCN had similar clinicopathological features to other benign peripheral nerve sheath tumors, including neurofibroma and schwannoma, immunocytochemical analyses were helpful for correct diagnosis of this case.

PMID: 27522960 [PubMed - indexed for MEDLINE]

An update on the up and coming therapies to treat osteoarthritis, a multifaceted disease.

Expert Opin Pharmacother. 2016 Sep;17(13):1745-56

Authors: Roman-Blas JA, Bizzi E, Largo R, Migliore A, Herrero-Beaumont G

Abstract
INTRODUCTION: The lack of a complete understanding of the complex processes involved in the etiopathogenesis and subsequent appropriate phenotyping makes it difficult to find therapies that may be efficacious in most patients with osteoarthritis (OA). Consensus recommendations involve mainly non-pharmacological approaches. Analgesics and NSAIDs are considered second choice options due to their poor efficacy/safety ratios. To some extent, OA may be considered an orphan disease. Therefore, there is an urgent need to identify effective and safe new pharmacologic modalities for treating OA.
AREAS COVERED: This review is based on a Medline comprehensive literature search for published articles evaluating new formulations of current drugs and promising emerging therapies in OA. We discuss the current status of novel systemic agents in development including potent analgesic options, inhibitors of innate immunity, inducible nitric oxide synthase (iNOS), pro-inflammatory cytokines and cartilage proteases as well as bone agents. Furthermore, we also revise the potential benefit of intraarticular (IA) therapy with hyaluronic acid (HA), pro-inflammatory mediator blockers, cartilage anabolic agents, mesenchymal stem cell and gene transfer.
EXPERT OPINION: Despite the renewed interest in the search of new compounds for treatment of OA, results have been limited. Novel systemic and IA administered agents are in active development. IA drug administration is particularly an attractive approach because can diminish some of the severe side effects associated with systemic drugs. Indeed, one of the most promising fields for pharmacology innovation in OA is joint injected therapy, as suggested by preliminary data from recent studies using IA sprifermin (rhFGF-18), mesenchymal stem cells or TGF-B1 transduced allogenic chondrocytes. Last, the effort to develop new drugs must be accompanied by the interest for establishing well-defined phenotypes, and only then, a more tailored therapy should be practiced in OA.

PMID: 27326466 [PubMed - indexed for MEDLINE]

Rare Case Report Of Mesenteric Fibromatosis.

Pol Przegl Chir. 2015 Sep;87(9):469-71

Authors: Vidyasagar R, Sudarshan, Sreedhar, Subramanya, Bhat V

Abstract
Mesenteric fibromatosis is a part of the clinical-pathologic spectrum of deep fibromatoses. We report this rare case of primary mesenteric tumor that was diagnosed to be a mesenteric fibromatosis on histopathological examination. In majority of patients it may remain asymptomatic and the management of these tumors depends on histopathological examination. Postoperatively, patient was well and subsequent follow up showed normal recovery.

PMID: 26812843 [PubMed - indexed for MEDLINE]

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.

Mol Ther. 2017 Feb 22;:

Authors: Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK

Abstract
X-linked myotubular myopathy (XLMTM) results from MTM1 gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to respiratory failure and death, typically within 2 years of age. Our objective was to evaluate the efficacy and safety of systemic gene therapy in the p.N155K canine model of XLMTM by performing a dose escalation study. A recombinant adeno-associated virus serotype 8 (rAAV8) vector expressing canine myotubularin (cMTM1) under the muscle-specific desmin promoter (rAAV8-cMTM1) was administered by simple peripheral venous infusion in XLMTM dogs at 10 weeks of age, when signs of the disease are already present. A comprehensive analysis of survival, limb strength, gait, respiratory function, neurological assessment, histology, vector biodistribution, transgene expression, and immune response was performed over a 9-month study period. Results indicate that systemic gene therapy was well tolerated, prolonged lifespan, and corrected the skeletal musculature throughout the body in a dose-dependent manner, defining an efficacious dose in this large-animal model of the disease. These results support the development of gene therapy clinical trials for XLMTM.

PMID: 28237839 [PubMed - as supplied by publisher]

Haemophagocytic lymphohistiocytosis (HLH): a rare but potentially fatal association with Plasmodium vivax malaria.

BMJ Case Rep. 2016 Jun 13;2016:

Authors: Ullah W, Abdullah HM, Qadir S, Shahzad MA

Abstract
Haemophagocytic lymphohistiocytosis (HLH) is a potentially fatal syndrome that is caused by an abnormal activation of the immune system. It can present as the primary syndrome or occur secondary to a variety of conditions such as malignancy, autoimmune diseases and infections. We present a case of a man who developed HLH secondary to Plasmodium vivax infection. He presented with symptoms of fever, chills and myalgias. Physical examination revealed significant hepatosplenomegaly. The presence of pancytopaenia, elevated ferritin levels and haemophagocytosis on bone marrow biopsy confirmed the diagnosis of HLH (based on HLH-2004 criteria). There was a significant improvement after the initiation of intravenous antimalarials. No relapses were documented on follow-up. It is imperative that physicians should promptly recognise and treat this rare condition, as a timely intervention can be lifesaving.

PMID: 27298293 [PubMed - indexed for MEDLINE]

Rare case of stress cardiomyopathy due to intramuscular epinephrine administration.

BMJ Case Rep. 2016 Jun 07;2016:

Authors: Nazir S, Melnick S, Lohani S, Lloyd B

Abstract
We report a case of a 37-year-old woman who presented to our hospital with retrosternal chest pain following intramuscular administration of epinephrine due to presumed anaphylaxis. On arrival, she was found to have ST segment depression in the anterolateral leads on ECG and elevated cardiac troponins. She was diagnosed with stress cardiomyopathy based on left ventricle dysfunction and angiographically normal coronary arteries on cardiac catheterisation. To the best of our knowledge, this is the third reported case of takotsubo cardiomyopathy following appropriately dosed intramuscular administration of epinephrine for anaphylaxis. This case highlights the importance of considering stress cardiomyopathy in patients presenting with chest pain syndrome following systemic administration of epinephrine.

PMID: 27268785 [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 2017/02/24

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.

Nivolumab for previously treated unresectable metastatic anal cancer (NCI9673): a multicentre, single-arm, phase 2 study.

Lancet Oncol. 2017 Feb 17;:

Authors: Morris VK, Salem ME, Nimeiri H, Iqbal S, Singh P, Ciombor K, Polite B, Deming D, Chan E, Wade JL, Xiao L, Bekaii-Saab T, Vence L, Blando J, Mahvash A, Foo WC, Ohaji C, Pasia M, Bland G, Ohinata A, Rogers J, Mehdizadeh A, Banks K, Lanman R, Wolff RA, Streicher H, Allison J, Sharma P, Eng C

Abstract
BACKGROUND: Squamous cell carcinoma of the anal canal (SCCA) is a rare malignancy associated with infection by human papillomavirus (HPV). No consensus treatment approach exists for the treatment of metastatic disease. Because intratumoral HPV oncoproteins upregulate immune checkpoint proteins such as PD-1 to evade immune-mediated cytotoxicity, we did a trial of the anti-PD-1 antibody nivolumab for patients with metastatic SCCA.
METHODS: We did this single-arm, multicentre, phase 2 trial at ten academic centres in the USA. We enrolled patients with treatment-refractory metastatic SCCA, who were given nivolumab every 2 weeks (3 mg/kg). The primary endpoint was response according to Response Evaluation Criteria in Solid Tumors, version 1.1, in the intention-to-treat population. At the time of data cutoff, the study was ongoing, with patients continuing to receive treatment. The study is registered with ClinicalTrials.gov, number NCT02314169.
RESULTS: We screened 39 patients, of whom 37 were enrolled and received at least one dose of nivolumab. Among the 37 patients, nine (24% [95% CI 15-33]) had responses. There were two complete responses and seven partial responses. Grade 3 adverse events were anaemia (n=2), fatigue (n=1), rash (n=1), and hypothyroidism (n=1). No serious adverse events were reported.
INTERPRETATION: To our knowledge, this is the first completed phase 2 trial of immunotherapy for SCCA. Nivolumab is well tolerated and effective as a monotherapy for patients with metastatic SCCA. Immune checkpoint blockade appears to be a promising approach for patients with this orphan disease.
FUNDING: National Cancer Institute/Cancer Therapy Evaluation Program, the HPV and Anal Cancer Foundation, the E B Anal Cancer Fund, The University of Texas MD Anderson Moon Shots Program, and an anonymous philanthropic donor.

PMID: 28223062 [PubMed - as supplied by publisher]

Anal cancer: from an orphan disease to a curable malignancy?

Lancet Oncol. 2017 Feb 17;:

Authors: Cascinu S

PMID: 28223061 [PubMed - as supplied by publisher]

A rare case of rectal carcinoma and prostate carcinoma with coexistent Paget's disease mimicking bone metastases in both (18)F-FDG and (68)Ga PSMA PET/CT.

Eur J Nucl Med Mol Imaging. 2017 Jan;44(1):173

Authors: Sasikumar A, Joy A, Pillai MR, Raman V, Vasudevan A, Madhavan J

PMID: 27704192 [PubMed - indexed for MEDLINE]

An orphan disease: IgG4-related spinal pachymeningitis: report of 2 cases.

J Neurosurg Spine. 2016 Dec;25(6):790-794

Authors: Radotra BD, Aggarwal A, Kapoor A, Singla N, Chatterjee D

Abstract
IgG4-related disease is relatively new disease entity and a rare one, and our knowledge of this entity continues to evolve. It was first described in the pancreas and since then has been described in virtually every organ. Spinal involvement resulting in pachymeningitis is rare, and there are only 8 reported cases of the same to date, with the cervicothoracic spine being the most commonly affected region. The authors describe 2 cases in which the patients presented with spinal compression resulting in myeloradiculopathy (Case 1) and radiculopathy (Case 2). Imaging of spine in both cases revealed an ill-defined contrast-enhancing lesion at the lumbar level. Preoperatively, a diagnosis of spinal tumor was made, but intraoperatively no spinal tumor was found. The diagnosis was established histopathologically. The disease has no particular defining features clinically or radiologically and can mimic common spinal tumors. It is important to accurately diagnose this rare entity because of its multisystem involvement and progressive course. Strict treatment guidelines have yet to be formulated. Although histologically this disease can mimic other inflammatory conditions, the presence of storiform fibrosis and an increased number of IgG4-positive plasma cells can help in clarifying the diagnosis.

PMID: 27391401 [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 2017/02/22

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.