Mandibular melanotic neuroectodermal tumor of infancy: a role for neoadjuvant chemotherapy.

Eur Arch Otorhinolaryngol. 2016 Dec;273(12):4629-4635

Authors: Maroun C, Khalifeh I, Alam E, Akl PA, Saab R, Moukarbel RV

Abstract
Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a rare, locally aggressive neoplasm with a predilection for the head and neck area, most commonly occurring in the maxilla. The vast majority of treatment modalities for all cases of MNTI to date have involved surgical intervention only, with just 9.6 % involving some sort of chemotherapy, radiotherapy, or a combination of the prior mentioned modalities. There is very limited information available regarding the use of neoadjuvant chemotherapy, due to its rare nature. In this report, a 4 month old girl presented to our clinic with a chief complaint of a large oral mass of about 2.5 months in duration. Intraoral examination showed an oral mass arising from the lingual aspect of inferior alveolar ridge with extensive mandibular invasion. The patient received three cycles of vincristine, Adriamycin, and cyclophosphamide as neodajuvant therapy. Upon completion, the tumor had decreased significantly in size. The patient was then scheduled for surgery and underwent surgical resection of the tumor. We were able to obtain adequate shrinkage of the tumor to allow better resectability, easier surgical access and a more minimally invasive approach with no lip split and a smaller neck incision. In conclusion, we have reported an extremely rare case of MNTI of the mandible that was successfully treated with neoadjuvant chemotherapy and surgical resection. This approach was advantageous to minimize the chance of recurrence and improve resectability in particularly large tumors, while maximizing functional outcomes and minimizing deformity.

PMID: 27107579 [PubMed - indexed for MEDLINE]

Signaling through RNA-binding proteins as a cell fate regulatory mechanism.

Cell Cycle. 2017 Mar 08;:0

Authors: Tsanov KM, Daley GQ

PMID: 28272977 [PubMed - as supplied by publisher]

Schwannoma of the Recurrent Laryngeal Nerve: A Rare Entity.

Innovations (Phila). 2017 Jan/Feb;12(1):64-66

Authors: de Heer LM, Teding van Berkhout F, Priesterbach-Ackley LP, Buijsrogge MP

Abstract
Neurogenic tumors are the most common posterior mediastinal tumors in adults. Schwannomas originating from the recurrent laryngeal nerve are rare. The present study describes a 46-year-old man with a tumor in the left superior mediastinum. Because of the narrow relationship with the aorta and the left pulmonary artery, the tumor was excised by left-sided minithoracotomy. The tumor, a schwannoma, originated from and encased the left recurrent laryngeal nerve. Six months after surgery, the patient was free of recurrence without symptoms other than hoarseness. "Additional imaging by magnetic resonance imaging could raise the probability of a neurogenic origin of the mass, eventually leading to collaboration with the neurosurgeon in this case."

PMID: 28085688 [PubMed - indexed for MEDLINE]

Urothelial neoplasm of the bladder in childhood and adolescence: a rare disease.

Int Braz J Urol. 2016 Mar-Apr;42(2):242-6

Authors: Polat H, Utangac MM, Gulpinar MT, Cift A, Erdogdu IH, Turkcu G

Abstract
PURPOSE: Bladder tumors are rare in children and adolescents. For this reason, the diagnosis is sometimes delayed in pediatric patients. We aimed to describe the diagnosis, treatment, and follow-up methods of bladder urothelial neoplasms in children and adolescents.
MATERIALS AND METHODS: We carried out a retrospective multicenter study involving patients who were treated between 2008 and 2014. Eleven patients aged younger than 18 years were enrolled in the study. In all the patients, a bladder tumor was diagnosed using ultrasonography and was treated through transurethral resection of the bladder (TURBT).
RESULTS: Nine of the 11 patients (82%) were admitted with gross hematuria. The average delay in diagnosis was 3 months (range, 0-16 months) until the ultrasonographic diagnosis was performed from the first episodes of macroscopic hematuria. A single exophytic tumor (1-4cm) was present in each patient. The pathology of all patients was reported as superficial urothelial neoplasm: two with papilloma, one with papillary urothelial neoplasm of low malignant potential (PUNLMP), four with low grade pTa, and four with low grade pT1. No recurrence was observed during regular cystoscopic and ultrasonographic follow-up.
CONCLUSIONS: Regardless of the presence of hematuria, bladder tumors in children are usually not considered because urothelial carcinoma in this population is extremely rare, which causes a delay in diagnosis. Fortunately, the disease has a good prognosis and recurrences are infrequent. Cystoscopy may be unnecessary in the follow-up of children with bladder tumors. We believe that ultrasonography is sufficient in follow-up.

PMID: 27256177 [PubMed - indexed for MEDLINE]

[Spiradenocarcinoma of the forehead : A rare skin tumor in the head and neck region].

HNO. 2016 May;64(5):328-30

Authors: Schwarz D, Göbel H, Gostian AO, Meyer MF, Anagiotos A

Abstract
Spiradenocarcinomas are rare malignant tumors that originate from the sweat glands of the skin and demonstrate aggressive growth. We report the case of an 86-year-old female patient presenting with a growth on the forehead which had been apparent for 2 years. After surgical removal of the tumor, histological workup culminated in the diagnosis of a spiradenocarcinoma. Surgical margins were free of tumor on pathological examination. Metastasis was excluded by positron-emission tomography-computed tomography (PET-CT). Due to the advanced age of the patient and the absence of metastatic disease, no adjuvant therapy was performed. Six months postoperatively there is no evidence of relapse.

PMID: 26231725 [PubMed - indexed for MEDLINE]

Eventration of the Right Hemidiaphragm with Resultant Right Atrial Compression-A Rare Finding.

Echocardiography. 2016 Sep;33(9):1432-3

Authors: Lau GT, To AC

PMID: 27247197 [PubMed - indexed for MEDLINE]

Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

Chin Med J (Engl). 2016 May 05;129(9):1009-10

Authors: Tang BS

PMID: 27098782 [PubMed - indexed for MEDLINE]

Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation.

Pharmacoeconomics. 2016 Mar;34(3):285-301

Authors: Wagner M, Khoury H, Willet J, Rindress D, Goetghebeur M

Abstract
BACKGROUND: The multiplicity of issues, including uncertainty and ethical dilemmas, and policies involved in appraising interventions for rare diseases suggests that multicriteria decision analysis (MCDA) based on a holistic definition of value is uniquely suited for this purpose. The objective of this study was to analyze and further develop a comprehensive MCDA framework (EVIDEM) to address rare disease issues and policies, while maintaining its applicability across disease areas.
METHODS: Specific issues and policies for rare diseases were identified through literature review. Ethical and methodological foundations of the EVIDEM framework v3.0 were systematically analyzed from the perspective of these issues, and policies and modifications of the framework were performed accordingly to ensure their integration.
RESULTS: Analysis showed that the framework integrates ethical dilemmas and issues inherent to appraising interventions for rare diseases but required further integration of specific aspects. Modification thus included the addition of subcriteria to further differentiate disease severity, disease-specific treatment outcomes, and economic consequences of interventions for rare diseases. Scoring scales were further developed to include negative scales for all comparative criteria. A methodology was established to incorporate context-specific population priorities and policies, such as those for rare diseases, into the quantitative part of the framework. This design allows making more explicit trade-offs between competing ethical positions of fairness (prioritization of those who are worst off), the goal of benefiting as many people as possible, the imperative to help, and wise use of knowledge and resources. It also allows addressing variability in institutional policies regarding prioritization of specific disease areas, in addition to existing uncertainty analysis available from EVIDEM.
CONCLUSION: The adapted framework measures value in its widest sense, while being responsive to rare disease issues and policies. It provides an operationalizable platform to integrate values, competing ethical dilemmas, and uncertainty in appraising healthcare interventions.

PMID: 26547306 [PubMed - indexed for MEDLINE]

Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.

BMJ Case Rep. 2017 Jan 30;2017:

Authors: Gama I, Almeida L

Abstract
A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.

PMID: 28137902 [PubMed - indexed for MEDLINE]

TB or not to be? Kikuchi-Fujimoto disease: a rare but important differential for TB.

BMJ Case Rep. 2017 Jan 04;2017:

Authors: McKenna C, Whitfield T, Patel N, Bonington A

Abstract
A 29-year-old British Pakistani woman presented with a 2-month history of drenching fevers, night sweats, lethargy and tender cervical and axillary lymphadenopathy. Initial investigations, bloods and imaging were unremarkable. Fever persisted during her admission, and treatment for tuberculosis (TB) lymphadenitis was started postbiopsy until histology confirmed a diagnosis of Kikuchi-Fujimoto's disease (KFD). KFD has a non-specific presentation of fever, night sweats and lymphadenopathy and commonly raises a clinical suspicion of a number of other serious conditions such as TB, lymphoma, HIV, systemic lupus erythematous, toxoplasmosis and infectious mononucleosis. Although rare, KFD should be considered to be a differential diagnosis for fever of unknown origin and tender lymphadenopathy in otherwise well individuals. This case demonstrates the importance of a timely histological biopsy diagnosis to prevent an incorrect diagnosis and administration of unnecessary medications.

PMID: 28052948 [PubMed - indexed for MEDLINE]

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]

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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]