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.

Risk Evaluation and Mitigation Strategies (REMSs): Are They Improving Drug Safety? A Critical Review of REMSs Requiring Elements to Assure Safe Use (ETASU).

Drugs R D. 2017 Feb 03;:

Authors: Boudes PF

Abstract
Risk Evaluation and Mitigation Strategies (REMSs) with Elements to Assure Safe Use (ETASU) are requested for drugs with significant safety risks. We reviewed REMS programs issued since 2011 to evaluate their rationales, characteristics, and consistencies, and evaluated their impact on improving drug safety. We conducted a literature search and a survey of relevant websites (FDA, manufacturers, and REMSs). ETASU characteristics were summarized. REMS risks were compared with labeled risks, including black box warnings. Forty-two programs were analyzed. Seven incorporated drugs of the same class. Most drugs (57%) were indicated for an orphan disease. A single risk was mentioned in 24 REMSs, and multiple risks in 18. Embryo-fetal toxicity and abuse or misuse were the most frequent risks. All risks were identified during clinical development but some were hypothetical. Thirty-six drugs had a black box warning. REMS risks and black box risks differed for 11 drugs. A drug with multiple indications could have a REMS for one of them but not for another. Most REMSs required prescriber training and certification, half required dispenser certification and patient enrolment. REMSs were revised multiple times and only three (7%) were discontinued. No data were available to establish whether REMSs were effective in improving drug safety. Some REMSs were deemed inefficient. REMSs with ETASU continue to be implemented but their impact on improving drug safety is still not documented. Hence, one of the main requirements of the FDA Amendments Act of 2007 is not being addressed. In addition, REMSs are complex and their logic is inconsistent; we recommend a thorough re-evaluation of the REMS program.

PMID: 28160230 [PubMed - as supplied by publisher]

Pediatric pulmonology year in review 2015: Part 3.

Pediatr Pulmonol. 2016 Jul;51(7):747-53

Authors: Birnkrant DJ, Yilmaz O, Nicolai T, Black JB, Mhanna MJ, Noah TL

Abstract
Our journal covers a broad range of research and scholarly topics related to children's respiratory disorders. For updated perspectives on the rapidly expanding knowledge in our field, we will summarize the past year's publications in our major topic areas, as well as selected publications in these areas from the core clinical journal literature outside our own pages. The current review (Part 3) covers articles on asthma, diagnostic testing/endoscopy, respiratory complications of neuromuscular disorders, and rare lung diseases. Pediatr Pulmonol. 2016;51:747-753. © 2016 Wiley Periodicals, Inc.

PMID: 27105321 [PubMed - indexed for MEDLINE]

Exploring the usability of EUCERD core indicators for rare diseases.

Ann Ist Super Sanita. 2015;51(4):342-5

Authors: Ferrelli RM, De Santis M, Gentile AE, Taruscio D

Abstract
In the context of the Community Programme in the field of Health, the European Commission financed a series of initiatives to support the development and use of indicators for planning health services for Rare Diseases (RDs). The European Project for Rare Disease National Plans Development (EUROPLAN) elaborated a set of 59 process and outcome indicators, for monitoring the implementation and for evaluating the impact of the National Plans on RDs. Due to the high number and difficulty in handling the indicators, the subsequent Joint Action "Working for RDs" planned to derive a selection of 21 core indicators that were adopted by the European Union Committee of Experts on RDs in June 2013. The descriptive study carried out in the framework of the Joint Action to select the key indicators to orient policies for RDs shows that core indicators represent an excellent opportunity to share knowledge and comparability among Member States.

PMID: 26783222 [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 2017/02/01

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 2017/01/31

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.

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 2017/01/28

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.

Zoosexuality: an unusual cause of colorectal injury.

Acta Chir Belg. 2016 Oct;116(5):316-318

Authors: Virgilio E, Franzese E, Caterino S

Abstract
Zoosexuality (the sexual intercourse between humans and animals) represents an extremely rare but potentially fatal cause of colorectal trauma and sepsis. A case of penetrating rectal injury associated with a rapidly progressive sepsis following sexual intercourse with a Maremma Sheepdog is presented.

PMID: 27426668 [PubMed - indexed for MEDLINE]

Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature.

Acta Chir Belg. 2016 Oct;116(5):305-308

Authors: Papis D, Marangoni G

Abstract
INTRODUCTION: Familial visceral myopathy (VM) is a rare genetic disease that affects intestinal motility and results in pseudo-obstruction. Medical treatments can provide supportive measures but no curative treatment.
CASE REPORT: A 20-year-old male with known diagnosis of VM was referred to our Unit in May 2013 with recurrent episodes of vomiting and hospital admissions not responding to medical treatment. Pre-operative imaging showed megaduodenum with marked delayed transit and normal small and large bowel transit. He underwent an elective Roux-en-Y duodeno-jejunostomy. The post-operative course was uneventful with complete resolution of the symptoms with a 2 years follow-up.
DISCUSSION: Due to the early age of presentation, VM affects patient both psychologically and physically. Surgical treatment of megaduodenum in visceral myopathy in the absence of motility disorder of the small bowel seems to achieve satisfactory symptomatic relief and could be considered in this rare cohort of patients.

PMID: 27410460 [PubMed - indexed for MEDLINE]

Traumatic herniation of the lung.

Acta Chir Belg. 2016 Oct;116(5):322-324

Authors: Corten BJ, Dijk WA, Bilderbeek-Beckers M, Janzing HM

Abstract
We present a relatively rare clinical presentation of herniation of lung parenchyma. In our case, the patient suffered multiple rib fractures, with an intercostal herniation of lung tissue after a trauma. We opted for a conservative treatment, given the clinical presentation, and the absence of incarceration or strangulation of the pulmonary tissue. In the absence of clear guidelines for this rare presentation, current treatment can be conservative or surgical, depending on the clinical presentation.

PMID: 27397036 [PubMed - indexed for MEDLINE]

Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view.

Acta Chir Belg. 2016 Apr;116(2):119-21

Authors: Erginel B, Gün F, Kocaman H, Çelik A, Salman T

Abstract
Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity. We report three cases of Triple A syndrome. Our aim is to inform pediatric surgeons about the existence of this rare syndrome and to highlight the need for suspicion of alacrima and ACTH insensitivity in cases of pediatric achalasia. Triple A syndrome should be considered in patients presenting with achalasia. Alacrima should be investigated by a Schirmer test, and adrenal dysfunction should be tested in cases of suspected triple A.

PMID: 27385299 [PubMed - indexed for MEDLINE]

Superior mesenteric artery (Wilkie's) syndrome: a rare cause of upper gastrointestinal system obstruction.

Acta Chir Belg. 2016 Apr;116(2):81-8

Authors: Oguz A, Uslukaya O, Ülger BV, Turkoglu A, Bahadır MV, Bozdag Z, Böyük A, Göya C

Abstract
Background Superior mesenteric artery syndrome (SMAS) results from the compression of the third part of the duodenum between the aorta and the proximal part of the superior mesenteric artery (SMA). Clinical presentation of SMAS is characterized by the dilatation of the proximal part of the third part of the duodenum. SMAS is a rare cause of the upper gastrointestinal system (UGS) obstruction. In this study, we aimed to present our clinical experience in the treatment of five patients with SMAS, which is a rare clinical condition requiring surgery. Patients and methods The retrospective study included five patients who were treated due to SMAS at our clinic between January 2010 and January 2014. Results All the patients were underweight, with a mean BMI of 15.73 (14-16). The clinical symptoms included epigastric pain after food intake, large volume bilious emesis, early satiety, failure to gain weight, indigestion, esophageal reflux, sense of fullness, and persistent weight loss. SMAS was diagnosed using barium meal studies, upper gastrointestinal endoscopy, abdominal ultrasonography, and CT angiography. Four patients underwent duodenojejunostomy and one patient was managed with gastrojejunostomy. No complication was observed during the postoperative period, and all the patients achieved significant improvement in symptoms. Conclusion SMAS is a rare cause of UGS obstruction, and the diagnosis of SMAS is often delayed. SMAS should be suspected in the differential diagnosis of the patients with unsubstantiated symptoms of persistent nausea, emesis, and significant weight loss.

PMID: 27385294 [PubMed - indexed for MEDLINE]

Video-assisted thoracoscopic surgery for adult Bochdalek hernia: a case report.

J Cardiothorac Surg. 2016 Dec 01;11(1):165

Authors: Shen YG, Jiao NN, Xiong W, Tang Q, Cai QY, Xu G, Liang GY

Abstract
BACKGROUND: Bochdalek hernia is a type of congenital diaphragmatic hernia that typically presents in childhood, while this diseases is extremely rare in adults.
CASE PRESENTATION: We review a case of a 63-year-old man with a left-sided Bochdalek hernia who was experiencing occasional pain at the left side of his chest for 8 months. The diagnosis of Bochdalek hernia was made by chest computed tomography. A part of the retroperitoneal adipose tissue was herniated into the left thoracic cavity through the diaphragmatic defect. The hernia was treated via video-assisted thoracoscopic surgery and he made an uneventful recovery.
CONCLUSIONS: We report a rare case of a left-sided Bochdalek hernia for which our patient was treated successfully via video-assisted thoracoscopic surgery. Even though rare, this disorder should be recognised, examined and treated appropriately to avoid complications.

PMID: 27906021 [PubMed - indexed for MEDLINE]

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.

Cytogenet Genome Res. 2016;150(1):35-39

Authors: Altıner Ş, Kutlay NY, İlhan O

Abstract
Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.

PMID: 27838684 [PubMed - indexed for MEDLINE]

Traumatic Rupture of Extra-adrenal Pheochromocytoma.

Am Surg. 2016 May;82(5):111-3

Authors: Bohlok A, Chehabeddine R, Safa A, Tabbara M

PMID: 27215711 [PubMed - indexed for MEDLINE]

Building a lineage from single cells: genetic techniques for cell lineage tracking.

Nat Rev Genet. 2017 Jan 23;:

Authors: Woodworth MB, Girskis KM, Walsh CA

Abstract
Resolving lineage relationships between cells in an organism is a fundamental interest of developmental biology. Furthermore, investigating lineage can drive understanding of pathological states, including cancer, as well as understanding of developmental pathways that are amenable to manipulation by directed differentiation. Although lineage tracking through the injection of retroviral libraries has long been the state of the art, a recent explosion of methodological advances in exogenous labelling and single-cell sequencing have enabled lineage tracking at larger scales, in more detail, and in a wider range of species than was previously considered possible. In this Review, we discuss these techniques for cell lineage tracking, with attention both to those that trace lineage forwards from experimental labelling, and those that trace backwards across the life history of an organism.

PMID: 28111472 [PubMed - as supplied by publisher]

Diffuse White Stuff in the Lungs: Challenges and Advances.

Radiol Clin North Am. 2016 Nov;54(6):xv

Authors: Kanne JP

PMID: 27719985 [PubMed - indexed for MEDLINE]