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 2019/03/05

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 Therapeutic Challenge of Rare Diseases.

Mayo Clin Proc. 2018 05;93(5):560-562

Authors: Rooke T

PMID: 29643000 [PubMed - indexed for MEDLINE]

Vascular Complications After Chin Augmentation Using Hyaluronic Acid.

Aesthetic Plast Surg. 2018 Apr;42(2):553-559

Authors: Wang Q, Zhao Y, Li H, Li P, Wang J

Abstract
Vascular complications after hyaluronic acid (HA) filling of the chin have rarely been reported. In this report, two cases of vascular occlusion after HA augmentation of the mentum are presented. The first case involved local skin necrosis that resulted from a massive microcirculatory embolism and/or external compression of the chin skin microvasculature. The second case involved vascular compromise in the tongue that resulted from HA injection in the chin. The diagnosis was established on the basis of interventional angiography findings. Concerning the pathogenesis, we hypothesized that the filler embolus flowed into the branches of the deep lingual artery through the rich vascular anastomoses among the submental, sublingual, and deep lingual arteries, after being accidentally injected into the submental artery (or its branches). Level of Evidence V This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

PMID: 29260270 [PubMed - indexed for MEDLINE]

Indolent Rib Osteomyelitis Following Breast Implant Reconstruction: An Unusual Case and Review of the Literature.

Aesthetic Plast Surg. 2018 Apr;42(2):447-450

Authors: Watson L, Dunn D, Fraser-Kirk G

Abstract
Rib osteomyelitis is an infrequently occurring but important complication of breast implant surgery. Although prosthetic or surgical site infection (SSI) and rib osteomyelitis as separate entities are well described in the literature, only five cases of rib or sternal osteomyelitis related to implant placement have been reported globally. Historically patients who experience this complication have not demonstrated an identifiable prevalence of the traditional risk factors associated with SSI or rib osteomyelitis. This report describes the sequence of clinical manifestations of an unusual case of breast implants complicated by rib osteomyelitis. A 56-year-old female underwent mastectomy and insertion of tissue expanders for bilateral invasive ductal carcinoma following which the tissue expanders became infected in the early postoperative period and were subsequently removed. The patient underwent successful expander insertion and subsequent implant exchange surgery several years later and enjoyed an uncomplicated recovery from this. Following nipple reconstruction more than 12 months after successful implant placement, she presented with Staphylococcus epidermidis bacteremia and a left-sided clinical peri-implant infection. Upon removal of her implant, an intraoperative discovery of rib necrosis/osteomyelitis was made for which she was treated. To provide context, the literature was reviewed for other reported cases of rib osteomyelitis following breast implant surgery. This patient, in combination with others reported in the literature, emphasises the diagnostic difficulties posed by this condition as a result of its low incidence and variable or absent clinical features.
LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

PMID: 29026955 [PubMed - indexed for MEDLINE]

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 2019/03/01

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.

The difficulties and importance of research in rare genetic diseases.

Muscle Nerve. 2018 04;57(4):520-521

Authors: Hunter M, Johnson NE

PMID: 29266294 [PubMed - indexed for MEDLINE]

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition.

Kidney Int. 2016 10;90(4):721-3

Authors: Quigley R, Saland JM

Abstract
The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.

PMID: 27633862 [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 2019/02/27

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 2019/02/27

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 2019/02/26

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 2019/02/23

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.

Malignant Solitary Fibrous Tumor of the Humerus: A Case Report of an Extremely Rare Primary Bone Tumor.

Int J Surg Pathol. 2018 Dec;26(8):772-776

Authors: Suarez-Zamora DA, Rodriguez-Urrego PA, Soto-Montoya C, Rivero-Rapalino O, Palau-Lazaro MA

Abstract
Solitary fibrous tumor (SFT) is a spindle-shaped cell neoplasm originally described in the pleura, but subsequently found in many anatomic sites. Only few cases of primary SFTs in the bone have been previously described in the literature. We present the case of an 86-year-old man with a 1-week history of pain in his left arm. Imaging studies demonstrated a well-defined osteolytic lesion in the proximal humerus measuring 6.1 cm in diameter. Sections showed a round to spindle-shaped cell neoplasm with prominent mitotic activity (28 mitoses per 10 high-power fields) and areas of necrosis, focally surrounding staghorn-shaped vessels. The tumor cells were positive for CD34, CD99, Bcl-2, and STAT6 and negative for smooth muscle actin, epithelial membrane antigen, and cytokeratin AE1/AE3. These findings were consistent with a malignant SFT involving the left humerus. Although extremely rare, SFT should be considered in the differential diagnosis of primary bone tumors. This is the first case report of a primary SFT in a long bone with malignant histological features.

PMID: 29961401 [PubMed - indexed for MEDLINE]

Morphologic and Immunohistochemical Characteristics of Anorectal Melanoma.

Int J Surg Pathol. 2018 Dec;26(8):725-729

Authors: Charifa A, Zhang X

Abstract
Anorectal melanoma is a rare aggressive disease. Due to its rarity and considerable histologic and immunohistochemical variabilities, misdiagnosis as lymphoma, carcinoma, sarcoma, and/or gastrointestinal stromal tumor is not uncommon, particularly in amelanotic cases. We reviewed histologic features and immunohistochemical stains of 19 anorectal melanoma cases. Histopathologic features were evaluated including junctional activity, melanin pigment, and morphologic features. Immunohistochemical stains were performed using Sox10, S100 protein, HMB-45, melan-A, CD56, and cytokeratins. Epithelioid histopathologic morphology was observed in 63.2% of the cases followed by 47.4% of the cases with spindle-cell, 26.3% with lymphoma-like, and 26.3% with pleomorphic morphologies. Junctional melanocytic activity was seen in almost half of the cases. Melanin pigment was absent (amelanotic) in nearly 40% of the cases. Immunohistochemically, diffuse positive expression of Sox10, S100 protein, melan-A, and HMB-45 was seen in 100%, 40%, 53.3%, and 38.5% of the cases, respectively. Cytokeratins were negative and CD56 was positive in 2 cases. These findings indicate that anorectal melanomas often show one or combined histolopathologic features without presence of melanin pigment and absence of junctional melanocytic activity. Anorectal melanoma should be kept in mind in the differential diagnosis of malignant neoplasms of anorectal region with epithelioid, spindle-cell, lymphoma-like, and pleomorphic morphologies. Sox10 immunohistochemistry stain can be used as a first-line screening tool to avoid extensive or unnecessary workups and/or potential misdiagnosis.

PMID: 29759015 [PubMed - indexed for MEDLINE]

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Eur J Med Genet. 2019 Feb 14;:

Authors: Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E

Abstract
Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT. Biallelic mutations in the ATM gene were identified in all studied subjects; these lesions included one large gene rearrangement, which was reliably detected by NGS and validated by multiplex ligation-dependent probe amplification (MLPA). There was a pronounced founder effect, as 17 of 30 (57%) pathogenic ATM alleles in the patients of Slavic origin were represented by three recurrent mutations (c.5932G > T, c.450_453delTTCT, and c.1564_1565delGA). These data have to be taken into account while considering the genetic diagnosis and screening for ataxia-telangiectasia syndrome.

PMID: 30772474 [PubMed - as supplied by publisher]

Editorial on special topic ISCB 2015: "Clinical research design, rare diseases, and personalized medicine".

Biom J. 2017 07;59(4):607-608

Authors: Roes K

PMID: 28677212 [PubMed - indexed for MEDLINE]

[Lipedema: up-to-date of a long forgotten disease].

Wien Med Wochenschr. 2017 Oct;167(13-14):343-348

Authors: Wollina U

Abstract
Lipedema is a chronic disorder of subcutaneous adipose tissue of unknown etiology not uncommon among post-puberty women. The disease has a negative impact on self-esteem, mobility, and quality of life. Lipedema is characterized by symmetrical, disfiguring hyperplastic adipose tissue combined with bruising and pain. Untreated lipedema fosters osteoarthritis, secondary lymphedema, limited mobility, and psychosocial stigmatization. Treatment consists of conservative complex decongestive therapy and surgery by microcannular tumescent liposuction. Liposuction is the only available treatment capable to reduce the pathological adipose tissue durable and to prevent complications.

PMID: 28493139 [PubMed - indexed for MEDLINE]

Ileal schwannoma causing intussusception in an adult.

BMJ Case Rep. 2018 Oct 30;2018:

Authors: Roulston G, Elwan H, Obeid N, Lirosi F

Abstract
Ileal schwannomas are extremely rare tumours. Very few cases have been previously reported. Most cases present with abdominal pain and gastrointestinal bleeding; intussusception is a rare presentation. Due to limitations in imaging modalities, arriving at a diagnosis preoperatively can be challenging. The only reliable method of diagnosis, and treatment, is resection of the tumour, followed by histological and immunohistochemical testing. This report details the rare case of intussusception as the presenting feature of an ileal schwannoma.

PMID: 30381306 [PubMed - indexed for MEDLINE]

[Treatment networks and associations of patients with rare diseases].

Cien Saude Colet. 2018 Oct;23(10):3247-3256

Authors: Lima MAFD, Gilbert ACB, Horovitz DDG

Abstract
Patients' associations are an example of biosocial groups, since their formation is motivated by common biological characteristics, such as rare diseases, and they are sometimes included in social movements in health. Even though the National Policy on Comprehensive Care for Persons with Rare Diseases was enacted in 2014, patients still struggle to ensure access to and treatment by the Unified Health System. The way in which associations of patients with rare diseases gain access to treatment via social networks, is investigated. This research is part of a study about the use of social media by associations of patients with rare diseases, which employs netnography - ethnography applied to the web - as the data-gathering method. Data sources were pages of the associations on Facebook in Brazil. It was seen that the activities of the associations are multi-faceted, ranging from patient and family guidance about treatment and quality of life, to active participation in the elaboration and implementation of public policies. The discourses suggest that the focus of patients' associations is, in the majority of cases, the access to drugs rather than the effective enactment of the national policy geared towards rare diseases.

PMID: 30365844 [PubMed - indexed for MEDLINE]

Imaging technique for the diagnosis of onychomatricoma.

J Eur Acad Dermatol Venereol. 2018 Nov;32(11):1874-1878

Authors: Cinotti E, Veronesi G, Labeille B, Cambazard F, Piraccini BM, Dika E, Perrot JL, Rubegni P

Abstract
Onychomatricoma is a rare tumour that derives from the nail matrix and grows within the nail plate. The clinical presentation can mimic many other tumours and conditions, and surgical biopsy and histopathological examination are necessary to confirm the diagnosis. As nail surgery is a painful experience for the patient and sometimes can leave permanent onychodistrophy, more precise preoperative diagnosis is needed to distinguish onychomatricoma from other nail diseases more accurately and to limit surgical interventions. The objective of this study was to evaluate current literature on imaging techniques for the diagnosis of onychomatricoma in order to understand how this technology can help the presurgical diagnosis of this tumour. We searched in the Cochrane Skin Group Specialised library, Medline, Embase and LILACS databases all studies evaluating imaging technique for the diagnosis of onychomatricoma up to February 2018. We found that not only nail dermoscopy, but also reflectance confocal microscopy, optical coherence tomography, ultrasonography and magnetic resonance can be useful in this field.

PMID: 29869357 [PubMed - indexed for MEDLINE]

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

Eur J Hum Genet. 2018 05;26(5):652-659

Authors: Mackley MP, Blair E, Parker M, Taylor JC, Watkins H, Ormondroyd E

Abstract
With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results-including secondary findings (SF)-are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered-including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease patients and parents enroled in genome sequencing to explore views towards SF. Informed by extensive contact with the healthcare system, interviewees demonstrated high levels of understanding of genetic testing and held pragmatic views: many are content not knowing SF. Interviewees expressed trust in the system and healthcare providers, as well as an appreciation of limited resources; acknowledging existing disease burden, many preferred to focus on their primary condition. Many demonstrated an expectation for recontact and assumed the possibility of later access to initially declined SF. In the absence of such an infrastructure, it is important that responsibilities for recontact are delineated, expectations are addressed, and the long-term impact of decisions is made clear during consent. In addition, some interviewees demonstrated fluid views towards SF, and suggestions were made that perceptions may be influenced by family history. Further research into the changing desirability of SF and behavioural impact of disclosure are needed, and the development and introduction of mechanisms to respond to changes in patient views should be considered.

PMID: 29440777 [PubMed - indexed for MEDLINE]