Transmesenteric hernia: a rare case of acute abdominal pain in children: a case report and review of the literature.

Acta Chir Belg. 2018 Dec;118(6):388-391

Authors: Willems E, Willaert B, Van Slycke S

Abstract
In this report, we discuss the case of an 11-year old girl presenting with acute abdominal pain caused by gangrene of a large part of the small bowel. During urgent surgical exploration, the cause of gangrene appeared to be herniation of the small bowel through a congenital defect in the mesentery with subsequent strangulation. A resection was performed leaving the patient with only 130 cm of small bowel remaining. Transmesenteric hernia is a rare type of internal herniation consisting of a small congenital defect in the small bowel mesentery through which the intestine can herniate and subsequently become strangulated. We present a case of transmesenteric hernia with disastrous effects and review the literature regarding this rare type of hernia.

PMID: 29115904 [PubMed - indexed for MEDLINE]

Hypovolemic shock caused by delayed-onset superior gluteal artery rupture, successfully treated with arteriographic embolization.

Acta Chir Belg. 2018 Dec;118(6):380-383

Authors: Kim Y, Lee W

Abstract
INTRODUCTION: Rupture of the superior gluteal artery (SGA) is usually associated with pelvic bone fractures and acetabular fractures secondary to blunt trauma. However, despite recent advances in technologies and tools, rupture of the SGA remains a challenging problem because it is difficult to manage and is frequently associated with significantly high mortality and morbidity.
PATIENTS AND METHODS: We present a case of an 82-year-old man, who presented to our emergency department after a cultivator turnover accident and who showed stable initial vital signs and manifested only as blunt buttock traumatic contusion without any pelvic bone or acetabular fracture, which resulted in delayed massive bleeding from the SGA on eight days after trauma.
RESULTS: A hypovolemic shock and abrupt 4.2 g/dl hemoglobin decrease caused by massive bleeding from delayed-onset SGA rupture, was successfully treated with urgent angiographic embolization.
CONCLUSIONS: A delayed SGA bleeding should be considered in late-onset shock associated with blunt buttock trauma. Furthermore, early detection and embolization not only prevent further complications, such as compartment syndrome and hypovolemic shock, but also eliminate the need for any surgical interventions.

PMID: 28978258 [PubMed - indexed for MEDLINE]

19 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 2019/05/30

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.

19 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 2019/05/30

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8 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 2019/05/29

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.

8 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 2019/05/29

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.

8 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 2019/05/28

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.

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 2019/05/24

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.

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 2019/05/24

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.

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 2019/05/23

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.

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 2019/05/23

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.

10 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 2019/05/22

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.

10 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 2019/05/22

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.

Orphan Drugs in Oncology.

Recent Results Cancer Res. 2019;213:109-142

Authors: Korchagina D, Jaroslawski S, Jadot G, Toumi M

Abstract
Rare diseases represent a group of conditions affecting a very limited number of patients. Low profitability resulting from the small size of target population coupled with difficulties in conducting the research causes the lack of interest from the pharmaceutical industry. In order to promote research and development of medicines for rare diseases, a special 'orphan' legislation was introduced in a number of regions. These measures led to a significant increase in the number of approved orphan molecules. The high per patient cost of orphan drugs, as well the rapid growth of orphan drug sector, raised concerns regarding the sustainable funding of therapies for rare diseases. Rare cancers represent the majority of the current orphan drug market and are often associated with very high revenues. This chapter provides a review of orphan legislations and health technology assessment framework, analyses the position of oncology drugs on the orphan drug market and discusses future perspectives.

PMID: 30543010 [PubMed - indexed for MEDLINE]

Rare Occurrence of Incidental Finding of Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features in Hürthle Cell Adenoma.

Med Arch. 2018 Nov;72(5):367-370

Authors: Pigac B, Masic S, Hutinec Z, Masic V

Abstract
Introduction: Hürthle cell adenoma is a rare benign lesion of the thyroid gland, however, controversies about its potential malignant behavior still remain. Among thyroid neoplasms, papillary carcinoma is the most common variant with great variety of histological subtypes demonstrating different biological behavior.
Aim: To raise the awareness of possible coexistence of these two lesions and discussion about possible therapeutic approaches.
Case report: A 42 year old female patient was examined because of the pain in the thyroid area. Cytological examination suggested Hürthle cell adenoma. Subsequently, right thyroid lobectomy was performed. Intraoperative frozen sections confirmed the diagnosis, yet final histological analysis revealed encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC), now reclassified as noninvasive follicular thyroid neoplasm with papillary- like nuclear features (NIFTP) within the adenoma, which was not noticed through scintigraphy, ultrasound, cytological and frozen section analysis.
Conclusions: Problems concerning both diagnostic and therapeutic approach to these lesions are being discussed, since opinions reported in the literature are divided, posing great challenge for the clinician in determining adequate therapeutic procedures.

PMID: 30524171 [PubMed - indexed for MEDLINE]

A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse.

J Biomed Inform. 2018 04;80:52-63

Authors: Garcelon N, Neuraz A, Salomon R, Faour H, Benoit V, Delapalme A, Munnich A, Burgun A, Rance B

Abstract
INTRODUCTION: Clinical data warehouses are often oriented toward integration and exploration of coded data. However narrative reports are of crucial importance for translational research. This paper describes Dr. Warehouse®, an open source data warehouse oriented toward clinical narrative reports and designed to support clinicians' day-to-day use.
METHOD: Dr. Warehouse relies on an original database model to focus on documents in addition to facts. Besides classical querying functionalities, the system provides an advanced search engine and Graphical User Interfaces adapted to the exploration of text. Dr. Warehouse is dedicated to translational research with cohort recruitment capabilities, high throughput phenotyping and patient centric views (including similarity metrics among patients). These features leverage Natural Language Processing based on the extraction of UMLS® concepts, as well as negation and family history detection.
RESULTS: A survey conducted after 6 months of use at the Necker Children's Hospital shows a high rate of satisfaction among the users (96.6%). During this period, 122 users performed 2837 queries, accessed 4,267 patients' records and included 36,632 patients in 131 cohorts. The source code is available at this github link https://github.com/imagine-bdd/DRWH. A demonstration based on PubMed abstracts is available at https://imagine-plateforme-bdd.fr/dwh_pubmed/.

PMID: 29501921 [PubMed - indexed for MEDLINE]

The Impact of the Orphan Drug Act on FDA-Approved Therapies for Rare Skin Diseases and Skin-Related Cancers.

J Am Acad Dermatol. 2019 May 16;:

Authors: Karas L, Lu CY, Agrawal PB, Asgari MM

Abstract
The Orphan Drug Act of 1983 (ODA) put in place a set of financial and marketing incentives to stimulate the development of drugs to treat rare diseases, and since its passage more than 600 orphan drug and biologic products have been brought to market in the United States. Rapid growth in orphan drug approvals in conjunction with high orphan drug prices have triggered concern that drug makers are exploiting certain aspects of the ODA for financial gain and that some pharmaceutical drugs are receiving orphan status where it is not warranted. The landscape of approved therapies for rare skin diseases has not been well described. In this article, we provide a descriptive analysis of the Food and Drug Administration-approved orphan drugs for the treatment of rare dermatologic conditions and skin-related cancers since the enactment of the ODA. We discuss policy issues that emerge from the analysis and suggest areas for future research. Next, we elucidate ODA loopholes using dermatologic drugs as examples and propose potential reforms. Finally, we consider future directions for orphan drug development in the field of dermatology.

PMID: 31103566 [PubMed - as supplied by publisher]

A Rare Syndrome With Eye, Skin, and Brain Abnormalities.

Pediatr Neurol. 2018 06;83:58-59

Authors: Annelien M, Lieve V

PMID: 29625847 [PubMed - indexed for MEDLINE]

Somatic mosaicism and neurodevelopmental disease.

Nat Neurosci. 2018 11;21(11):1504-1514

Authors: D'Gama AM, Walsh CA

Abstract
Traditionally, we have considered genetic mutations that cause neurodevelopmental diseases to be inherited or de novo germline mutations. Recently, we have come to appreciate the importance of de novo somatic mutations, which occur postzygotically and are thus present in only a subset of the cells of an affected individual. The advent of next-generation sequencing and single-cell sequencing technologies has shown that somatic mutations contribute to normal and abnormal human brain development. Somatic mutations are one important cause of neuronal migration and brain overgrowth disorders, as suggested by visible focal lesions. In addition, somatic mutations contribute to neurodevelopmental diseases without visible lesions, including epileptic encephalopathies, intellectual disability, and autism spectrum disorder, and may contribute to a broad range of neuropsychiatric diseases. Studying somatic mutations provides insight into the mechanisms underlying human brain development and neurodevelopmental diseases and has important implications for diagnosis and treatment.

PMID: 30349109 [PubMed - indexed for MEDLINE]

[Rare Diseases].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):477-478

Authors: Weber S, Grüters-Kieslich A

PMID: 28421247 [PubMed - indexed for MEDLINE]