A 36-Year-Old Female with Recurrent Left Sided Pleural Effusion: A Rare Case of Mediastinal Lymphangioma.

Am J Case Rep. 2016 Oct 28;17:799-804

Authors: Swarnakar RN, Hazarey JD, Dhoble C, Vaghani B, Ainsley AS, Khargie JF, Likaj L

Abstract
BACKGROUND Lymphangioma is an atypical non-malignant, lymphatic lesion that is congenital in origin. Lymphangioma is most frequently observed in the head and neck, but can occur at any location in the body. About 65% of lymphangiomas are apparent at birth, while 80-90% are diagnosed by two years of age. Occurrence in adults is rare, as evidenced by less than 100 cases of adult lymphangiomas reported in the literature. CASE REPORT A 36-year-old Indian woman with a medical history of recurrent pleural effusions presented with chief complaints of dyspnea on exertion for one year and a low-grade fever for one month. A thorax CT revealed left-sided pleural effusion with thin internal septations. Thoracoscopy revealed a large cystic lesion arising from the mediastinum from the hilum surrounding the mediastinal great vessels. The diagnosis of lymphangioma was confirmed via histopathologic examination of the cyst. It was managed with partial cystectomy along with the use of a sclerosing agent (talc). CONCLUSIONS The size and location of lymphangiomas can vary, with some patients presenting with serious problems like respiratory distress, while others may be asymptomatic. Complete cyst resection is the gold standard treatment for mediastinal cystic lymphangioma. Partial cyst resection along with the use of sclerosing agents can be an effective option when complete cystectomy is not possible. Although lymphangioma is a rare patient condition, it should be included in the differentials for patients presenting with pleural effusions. Also, a biopsy should be done at the earliest opportunity to differentiate lymphangioma from other mediastinal malignant tumors.

PMID: 27789902 [PubMed - indexed for MEDLINE]

Integrated multidisciplinary care for the management of chronic conditions in adults: an overview of reviews and an example of using indirect evidence to inform clinical practice recommendations in the field of rare diseases.

Haemophilia. 2016 Jul;22 Suppl 3:41-50

Authors: Yeung CH, Santesso N, Zeraatkar D, Wang A, Pai M, Sholzberg M, Schünemann HJ, Iorio A

Abstract
BACKGROUND: Integrated care models have been adopted for individuals with chronic conditions and for persons with rare diseases, such as haemophilia.
OBJECTIVE: To summarize the evidence from reviews for the effects of integrated multidisciplinary care for chronic conditions in adults and to provide an example of using this evidence to make recommendations for haemophilia care.
SEARCH METHODS: We searched MEDLINE, EMBASE, CINAHL and Cochrane Database of Systematic Reviews up to January 2016, and reviewed reference lists of retrieved papers.
SELECTION CRITERIA: Systematic reviews of at least one randomized study, on adults with non-communicable chronic conditions.
DATA COLLECTION AND ANALYSIS: Two investigators independently assessed eligibility and extracted data. Quality of reviews was assessed using ROBIS, and the evidence assessed using GRADE.
RESULTS: We included seven reviews reporting on three chronic conditions. We found low to high quality evidence. Integrated care results in a reduction in mortality; likely a reduction in emergency visits and an improvement in function; little to no difference in quality of life, but shorter hospital stays; and may result in little to no difference in missed days of school or work. No studies reported educational attainment, or patient adherence and knowledge. When used for haemophilia, judgment about the indirectness of the evidence was driven by disease, intervention or outcome characteristics.
CONCLUSION: This overview provides the most up to date evidence on integrated multidisciplinary care for chronic conditions in adults, and an example of how it can be used for guidelines in rare diseases.

PMID: 27348400 [PubMed - indexed for MEDLINE]

Giant cell tumours in fingers among the Inuit population in Greenland.

Int J Circumpolar Health. 2016;75:31285

Authors: Duelund N, Hougaard K

Abstract
OBJECTIVE: Giant cell tumours (GCTs) of the tendon sheets in fingers are rare. We therefore find it of interest to report on 5 cases identified in the Inuit population in Greenland within 16 months prior to this study.
MATERIAL AND METHODS: The Inuit account for 56,000 people of the total population in Greenland. From November 2010 to 16 months prior to this study, we diagnosed 5 cases (0.6% of all orthopaedic operations) with a GCT of the flexor tendon sheet of a finger. The patients were aged between 10 and 54 years, and 4 were women. All of them had noticed slow-growing tumours over 3 or more years and were referred for a suspected ganglion.
RESULTS: In two cases, the tumour was located at the distal interphalangeal (DIP) joint in the thumb and in one case at the third finger. Two other patients had tumours at the metacarpophalangeal (MCP) joint of the third finger and the thumb, respectively; one of these two had a communicating tumour to the DIP joint. The last patient had two tumours on the same finger, one at the MCP joint and the other at the DIP joint. In one case, the tumour had also eroded the cortex of the first phalanx of the thumb, and the largest tumour measured 5 cm.
CONCLUSION: GCTs of the flexor tendon sheets in fingers are rare. It could be a coincidence that we have seen 5 cases within a short period of time. It is not possible to identify past cases through a register. A tumour in a finger is not the most common location for a ganglion, especially not at the DIP level. Therefore, a large tumour at this location is more likely to be a GCT.

PMID: 27052154 [PubMed - indexed for MEDLINE]

7 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 2017/02/16

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 2017/02/15

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.

The Pediatric Research Equity Act Moves Into Adolescence.

JAMA. 2017 01 17;317(3):259-260

Authors: Bourgeois FT, Hwang TJ

PMID: 28114560 [PubMed - indexed for MEDLINE]

[Urothelial tumors in children].

Bull Cancer. 2017 Feb;104(2):195-201

Authors: Grapin-Dagorno C, Peycelon M, Philippe-Chomette P, Berrebi D, El Ghoneimi A, Orbach D

Abstract
Urothelial tumors are very rare in children (to date, only about 150 cases have been reported worlwide). Only 20% occur before the age of ten. The aim of this study is to specify the clinicopathologic features of urothelial tumor in young patients, which require a slightly different approach to treatment. On the basis of the WHO/ISUP (World Health Organisation/International Society of Urological Pathology) consensus classification report, these lesions are usually low-grade lesions, non invasive, and rarely recurrent. The sex ratio is three boys to one girl. These tumors are located preferentially in the low urinary tract, especially in the bladder. The main symptom is the macroscopic hematuria, which requires ultrasound examination in all cases. Cystoscopy is indicated in case of lesion of the bladder wall, or in case of persistent or recurrent hematuria, to obtain definitive diagnosis and biopsies. The tumors are mainly located on the posterior or lateral bladder wall above the trigone or near the ureteral orifices. Treatment is based on the transurethral resection of the lesion. The subsequent monitoring is sparsely codified, due to the exceptional occurrence of these tumors in the paediatric age group. These patients are likely to have better outcome than older patients, but it is due to the predominance of noninvasive papillary urothelial tumors. Tumor recurrences are not uncommon. In case of invasive, high-grade urothelial carcinomas, metastases or even lethal outcome may occur in rare cases.

PMID: 28034440 [PubMed - indexed for MEDLINE]

[Nasopharyngeal adenoid cystic carcinoma, a rare but highly challenging disease with unmet therapeutic needs: A case-report and review of the literature].

Cancer Radiother. 2016 Jul;20(5):400-4

Authors: Afani L, Errihani H, Benchafai I, Lalami Y

Abstract
Nasopharyngeal adenoid cystic carcinoma is a rare tumour. Compared with others nasopharyngeal tumours, it is characterised by slow evolution but it is locally aggressive and has a high tendency to recurrences. Due to the rarity of cases, no consensus exists about treatment approaches. We report the case of 45-year-old-man with a locally advanced adenoid cystic carcinoma. The patient received concurrent chemoradiation and had a good objective response. After one year, he developed a paucisymptomatic lung metastasis. The follow-up showed local recurrence after 3 years. One cycle of chemotherapy was given but poorly supported. Carbon ion radiotherapy was proposed. The aim of this work is to review the literature concerning this rare malignancy and discusses treatment approaches in initial situations and during recurrences.

PMID: 27131394 [PubMed - indexed for MEDLINE]

Encapsulating Peritoneal Sclerosis - Rare Cause Of Bowel Obstruction.

Pol Przegl Chir. 2015 Jul 01;87(7):371-4

Authors: Dec P, Józefowicz M, Lesińska A, Kubisa B

PMID: 26351794 [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 2017/02/12

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.

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.

Sci Transl Med. 2017 Feb 08;9(376):

Authors: Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ

Abstract
Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of erythroid progenitor differentiation, severely curtailing red blood cell production. Because many DBA patients fail to respond to corticosteroid therapy, there is considerable need for therapeutics for this disorder. Identifying therapeutics for DBA requires circumventing the paucity of primary patient blood stem and progenitor cells. To this end, we adopted a reprogramming strategy to generate expandable hematopoietic progenitor cells from induced pluripotent stem cells (iPSCs) from DBA patients. Reprogrammed DBA progenitors recapitulate defects in erythroid differentiation, which were rescued by gene complementation. Unbiased chemical screens identified SMER28, a small-molecule inducer of autophagy, which enhanced erythropoiesis in a range of in vitro and in vivo models of DBA. SMER28 acted through autophagy factor ATG5 to stimulate erythropoiesis and up-regulate expression of globin genes. These findings present an unbiased drug screen for hematological disease using iPSCs and identify autophagy as a therapeutic pathway in DBA.

PMID: 28179501 [PubMed - in process]

Turning the Unknown into Known: Data Mining Is Increasingly Used to Prospect for Rare-Disease Biology and Treatments.

IEEE Pulse. 2017 Jan-Feb;8(1):28-32

Authors: Mertz L

Abstract
Taken as a whole, rare diseases are not very rare. Even though a rare disease by definition is one that affects fewer than 200,000 Americans or fewer than one in 2,000 Europeans at any time, when rare diseases are considered together, they affect some 350 million people worldwide, or about 5% of the population (Figure 1). What is even more alarming is that 7,800 of the approximately 8,000 known rare diseases have no treatments available. It's not that rare diseases are harder to treat than more widespread illnesses. Rather, compared to more common disorders, rare diseases simply do not draw the same level of attention from granting agencies, pharmaceutical companies, medical professionals, and researchers, so they languish in the shadows.

PMID: 28129139 [PubMed - indexed for MEDLINE]

Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.

Medicine (Baltimore). 2016 Jul;95(29):e4251

Authors: Zhuang X, Li Y, Cao H, Wang T, Chen J, Liu J, Lin L, Ye R, Li X, Liu S, Li W, Lv Y, Zhang J, He C, Xu X, Wang Z, Huang C, Liu X, Wang L

Abstract
BACKGROUND: Cases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date.
METHODS: To determine the relationship among these multiple cancers, available DNA samples from the thyroid, lung, and skin tumors and from normal thyroid tissue were sequenced using whole exome sequencing.
RESULTS: The notable discrepancies of somatic mutations among the 3 tumor tissues indicated that they arose independently, rather than metastasizing from 1 tumor. A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene. Examining the status of this novel mutation in the patient's healthy siblings revealed its de novo origin.
CONCLUSION: Our study reports the first case of Li-Fraumeni syndrome-like in Chinese patients and demonstrates the important contribution of de novo mutations in this type of rare disease.

PMID: 27442652 [PubMed - indexed for MEDLINE]

Rare cardiovascular diseases: from European legislations to classification and clinical practice.

Kardiol Pol. 2015;73(3):135-41

Authors: Podolec P, Stępniewski J, Podolec J, Kopeć G

PMID: 25371302 [PubMed - indexed for MEDLINE]

Data quality in rare cancers registration: the report of the RARECARE data quality study.

Tumori. 2017 Jan 21;103(1):22-32

Authors: Trama A, Marcos-Gragera R, Sánchez Pérez MJ, van der Zwan JM, Ardanaz E, Bouchardy C, Melchor JM, Martinez C, Capocaccia R, Vicentini M, Siesling S, Gatta G, RARECARE working group contributing to the data quality study

Abstract
PURPOSE: Rare cancers represent 22% of all tumors in Europe; however, the quality of the data of rare cancers may not be as good as the quality of data for common cancer. The project surveillance of rare cancers in Europe (RARECARE) had, among others, the objective of assessing rare cancer data quality in population-based cancer registries (CRs). Eight rare cancers were considered: mesothelioma, liver angiosarcoma, sarcomas, tumors of oral cavity, CNS tumors, germ cell tumors, leukemia, and malignant digestive endocrine tumors.
METHODS: We selected data on 18,000 diagnoses and revised, on the basis of the pathologic and clinical reports (but not on pathologic specimens), unspecified morphology and topography codes originally attributed by CR officers and checked the quality of follow-up of long-term survivors of poor prognosis cancers.
RESULTS: A total of 38 CRs contributed from 13 European countries. The majority of unspecified morphology and topography cases were confirmed as unspecified. The few unspecified cases that, after the review, changed to a more specific diagnosis increased the incidence of the common cancer histotypes. For example, 11% of the oral cavity epithelial cancers were reclassified from unspecified to more specific diagnoses: 8% were reclassified as squamous cell carcinoma (commoner) and only 1% as adenocarcinoma (rarer). The revision confirmed the majority of long-term survivors revealing a relative high proportion of mesothelioma long-term survivors. The majority of appendix carcinoids changed behavior from malignant to borderline lesions.
CONCLUSIONS: Our study suggests that the problem of poorly specified morphology and topography cases is mainly one of difficulty in reaching a precise diagnosis. The awareness of the importance of data quality for rare cancers should increase among registrars, pathologists, and clinicians.

PMID: 27716878 [PubMed - indexed for MEDLINE]

Abnormal increase of intraocular pressure in fellow eye after severe ocular trauma: A case report.

Medicine (Baltimore). 2016 Aug;95(31):e4411

Authors: Vaajanen A, Tuulonen A

Abstract
BACKGROUND: An ocular injury can lead to secondary glaucoma in the traumatized eye in 3% to 20% of cases. Literature on the risk of developing elevated intraocular pressure in the nontraumatized fellow eye is scant. Clinicians treating ocular traumas should also bear in mind sympathetic ophthalmia, a rare bilateral granulomatous panuveitis following accidental or surgical trauma to 1 eye.
CASE REPORT: We report a case of high-pressure glaucoma of the fellow eye without any signs of uveitis. The left eye of a 24-year-old man was injured in an inadvertent movement during a free-time table-tennis match. The eye was severely crushed, leading to blindness. His right eye developed medically uncontrolled high-pressure glaucoma only 1 month after the injury.
CONCLUSION: To the best of our knowledge, there are no previous reports of post-traumatic glaucoma in the nontraumatized eye after open-globe injury.

PMID: 27495058 [PubMed - indexed for MEDLINE]

Case Report: Traumatic Carotid-Cavernous Fistula.

J Trauma Nurs. 2016 Jan-Feb;23(1):42-4

Authors: Pülhorn H, Chandran A, Nahser H, McMahon C

Abstract
Carotid-cavernous fistulae (CCFs) are a rare complication of head trauma, with potentially serious consequences. We report the case of a 45-year-old male patient who presented with posttraumatic CCF 2 months after sustaining a head injury. Appropriate imaging in the form of computed tomography of the head, magnetic resonance imaging of the head, and digital subtraction angiography of the intracranial vessels was performed, and the CCF was successfully coil embolized. This resulted in good resolution of the patient's symptoms. We discuss the cause, presentation, diagnosis, and treatment of CCFs. Carotid-cavernous fistulae are a rare sequela of craniofacial trauma; therefore, a high index of suspicion must be maintained to establish a diagnosis and prevent serious consequences.

PMID: 26745539 [PubMed - indexed for MEDLINE]

Gene-targeting pharmaceuticals for single-gene disorders.

Hum Mol Genet. 2016 Apr 15;25(R1):R18-26

Authors: Beaudet AL, Meng L

Abstract
The concept of orphan drugs for treatment of orphan genetic diseases is perceived enthusiastically at present, and this is leading to research investment on the part of governments, disease-specific foundations and industry. This review attempts to survey the potential to use traditional pharmaceuticals as opposed to biopharmaceuticals to treat single-gene disorders. The available strategies include the use of antisense oligonucleotides (ASOs) to alter splicing or knock-down expression of a transcript, siRNAs to knock-down gene expression and drugs for nonsense mutation read-through. There is an approved drug for biallelic knock-down of the APOB gene as treatment for familial hypercholesterolemia. Both ASOs and siRNAs are being explored to knock-down the transthyretin gene to prevent the related form of amyloidosis. The use of ASOs to alter gene-splicing to treat spinal muscular atrophy is in phase 3 clinical trials. Work is progressing on the use of ASOs to activate the normally silent paternal copy of the imprinted UBE3A gene in neurons as a treatment for Angelman syndrome. A gene-activation or gene-specific ramp-up strategy would be generally helpful if such could be developed. There is exciting theoretical potential for converting biopharmaceutical strategies such gene correction and CRISPR-Cas9 editing to a synthetic pharmaceutical approach.

PMID: 26628634 [PubMed - indexed for MEDLINE]

LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems.

AMIA Annu Symp Proc. 2015;2015:434-40

Authors: Choquet R, Maaroufi M, Fonjallaz Y, de Carrara A, Vandenbussche PY, Dhombres F, Landais P

Abstract
Characterizing a rare disease diagnosis for a given patient is often made through expert's networks. It is a complex task that could evolve over time depending on the natural history of the disease and the evolution of the scientific knowledge. Most rare diseases have genetic causes and recent improvements of sequencing techniques contribute to the discovery of many new diseases every year. Diagnosis coding in the rare disease field requires data from multiple knowledge bases to be aggregated in order to offer the clinician a global information space from possible diagnosis to clinical signs (phenotypes) and known genetic mutations (genotype). Nowadays, the major barrier to the coding activity is the lack of consolidation of such information scattered in different thesaurus such as Orphanet, OMIM or HPO. The Linking Open data for Rare Diseases (LORD) web portal we developed stands as the first attempt to fill this gap by offering an integrated view of 8,400 rare diseases linked to more than 14,500 signs and 3,270 genes. The application provides a browsing feature to navigate through the relationships between diseases, signs and genes, and some Application Programming Interfaces to help its integration in health information systems in routine.

PMID: 26958175 [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 2017/02/07

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.