Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature.

An Bras Dermatol. 2017;92(5 Suppl 1):121-125

Authors: Agulló-Pérez AD, Resano-Abarzuza MÁ, Córdoba-Iturriagagoitia A, Yanguas-Bayona JI

Abstract
Porokeratotic eccrine and hair follicle nevus is a very rare non-hereditary disorder of keratinization with eccrine and hair follicle involvement with only 9 cases described in the literature. In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. Herein we report 2 cases of porokeratotic eccrine and hair follicle nevus and review the existing cases in the Spanish and English literature.

PMID: 29267468 [PubMed - indexed for MEDLINE]

Osteoma cutis: rare painful tumor in atypical location.

An Bras Dermatol. 2017;92(5 Suppl 1):113-114

Authors: Sánchez MEG, Martínez MLM, Mena JLA, Martín LIO

Abstract
Osteoma cutis or cutaneous ossification is a rare entity characterized by the formation of bone in the skin. We present an isolated primary osteoma cutis located on the palm, an atypical location.

PMID: 29267465 [PubMed - indexed for MEDLINE]

Lymphocytoma cutis on the inguinal region: report of a rare case of benign lymphoproliferative disorder.

An Bras Dermatol. 2017;92(5 Suppl 1):98-100

Authors: Rosa WSC, Girão RJS, Carvalho IMS, Vargas LMML

Abstract
Lymphocytoma cutis, or benign reactive lymphoid hyperplasia, is an inflammatory skin lesion that mimics clinically and histologically malignant lymphoma. Most cases are idiopathic, but they may also be triggered by multiple factors, such as insect bites, tattoos, injections and herpes zoster. Clinically, the lesions are erythematous, soft papules, plaques or nodules, usually located on the upper limbs and face. The diagnosis is mainly based on histopathology and immunohistochemistry. Corticosteroid injections, cryosurgery, PUVA therapy, radiotherapy and surgery can be therapeutic options in cases requiring immediate treatment. To demonstrate an atypical presentation of this tumor, a case lymphocytoma skin on the groin will be reported, describing its diagnosis and treatment.

PMID: 29267460 [PubMed - indexed for MEDLINE]

Uncommon Cranial Meningioma: Key Imaging Features on Conventional and Advanced Imaging.

Clin Neuroradiol. 2017 Jun;27(2):135-144

Authors: Zakhari N, Torres C, Castillo M, Nguyen TB

Abstract
Given the high incidence of intracranial meningiomas encountered in clinical practice, it is not uncommon to find rare subtypes of meningioma, with unusual imaging findings. These commonly represent a diagnostic challenge. In this article, we review the imaging appearance of typical meningioma on conventional and advanced imaging as well as the key imaging features of multiple uncommon subtypes: cystic, microcystic, lipomatous, chordoid, angiomatous, intraosseous, extracranial, atypical/malignant, and tumor-to-tumor metastasis (also known as collision tumors). Some of these uncommon subtypes, however, demonstrate imaging features that may allow for a more specific diagnosis, or features, which can influence patient's management.

PMID: 28466126 [PubMed - indexed for MEDLINE]

Management of Anaplastic Thyroid Carcinoma: the Fruits from the ATC Research Consortium of Japan.

J Nippon Med Sch. 2018;85(1):18-27

Authors: Sugitani I, Onoda N, Ito KI, Suzuki S

Abstract
Anaplastic thyroid carcinoma (ATC) accounts for only 1 to 2% of all thyroid carcinomas, but it is one of the most lethal neoplasms in humans. To obtain further insights into this "orphan disease," we have established the ATC Research Consortium of Japan (ATCCJ) in 2009. It represents a multicenter registry for ATC that have been treated in Japan. To date, 67 institutions have taken part in the collaborative research system and over 1,200 cases have been accumulated in its database. Using this big data, several retrospective studies were carried out to evaluate 1) prognostic factors to determine initial treatment policy, 2) significance of extended radical surgery for Stage IVB cases, 3) characteristics of ATC incidentally found on pathological examination and 4) pathological features of ATC with long-term survival. Moreover, the ATCCJ has conducted an investigator-initiated, nationwide, prospective clinical trial since 2012; namely, the feasibility, safety and efficacy study of weekly paclitaxel administration for patients with ATC (UMIN: 000008574). Revised Japanese guidelines for treatment of thyroid tumors are going to adopt the recommendations from the results of this research. Since 2016, the ATCCJ has started the phase II study assessing the efficacy and safety of lenvatinib, a newly developed tyrosine kinase inhibitor for ATC (UMIN: 000020773). Our nationwide clinical trial network will strengthen the activity to recruit orphan disease patients and may discover new strategies to conquer this dismal malignancy in the near future.

PMID: 29540641 [PubMed - in process]

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 2018/03/15

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.

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 2018/03/15

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.

Ketohexokinase C blockade ameliorates fructose-induced metabolic dysfunction in fructose-sensitive mice.

J Clin Invest. 2018 Mar 13;:

Authors: Lanaspa MA, Andres-Hernando A, Orlicky DJ, Cicerchi C, Jang C, Li N, Milagres T, Kuwabara M, Wempe MF, Rabinowitz JD, Johnson RJ, Tolan DR

Abstract
Increasing evidence suggests a role for excessive intake of fructose in the Western diet as a contributor to the current epidemics of metabolic syndrome and obesity. Hereditary fructose intolerance (HFI) is a difficult and potentially lethal orphan disease associated with impaired fructose metabolism. In HFI, the deficiency of a particular aldolase, aldolase B, results in the accumulation of intracellular phosphorylated fructose thus leading to phosphate sequestration and depletion, increased ATP turnover and a plethora of conditions leading to clinical manifestations including fatty liver, hyperuricemia, Fanconi syndrome and severe hypoglycemia. Unfortunately, to date, there is no treatment for HFI and avoiding sugar and fructose in our society has become quite challenging. In this report, through use of genetically modified mice and pharmacological inhibitors, we demonstrate that the absence or inhibition of ketohexokinase (Khk), an enzyme upstream of aldolase B, is sufficient to prevent hypoglycemia and liver and intestinal injury associated with HFI using aldolase B knockout mice. We thus provide evidence for the first time of a potential therapeutic approach for this condition. Mechanistically, our studies suggest that it is the inhibition of the Khk C isoform, not the A isoform, that protects animals from HFI.

PMID: 29533924 [PubMed - as supplied by publisher]

Man With a Bump on the Chest.

Ann Emerg Med. 2016 Aug;68(2):e53-4

Authors: Mohebbi MR, Bausano BJ, Vollstedt KA

PMID: 27451309 [PubMed - indexed for MEDLINE]

Canine and Feline Models of Human Genetic Diseases and Their Contributions to Advancing Clinical Therapies
.

Yale J Biol Med. 2017 Sep;90(3):417-431

Authors: Gurda BL, Bradbury AM, Vite CH

Abstract
For many lethal or debilitating genetic disorders in patients there are no satisfactory therapies. Several barriers exist that hinder the developments of effective therapies including the limited availability of clinically relevant animal models that faithfully recapitulate human genetic disease. In 1974, the Referral Center for Animal Models of Human Genetic Disease (RCAM) was established by Dr. Donald F. Patterson and continued by Dr. Mark E. Haskins at the University of Pennsylvania with the mission to discover, understand, treat, and maintain breeding colonies of naturally occurring hereditary disorders in dogs and cats that are orthologous to those found in human patients. Although non-human primates, sheep, and pig models are also available within the medical community, naturally occurring diseases are rarely identified in non-human primates, and the vast behavioral, clinicopathological, physiological, and anatomical knowledge available regarding dogs and cats far surpasses what is available in ovine and porcine species. The canine and feline models that are maintained at RCAM are presented here with a focus on preclinical therapy data. Clinical studies that have been generated from preclinical work in these models are also presented.

PMID: 28955181 [PubMed - indexed for MEDLINE]

Resilience to health challenges is related to different ways of thinking: mediators of physical and emotional quality of life in a heterogeneous rare-disease cohort.

Qual Life Res. 2017 Nov;26(11):3075-3088

Authors: Schwartz CE, Michael W, Rapkin BD

Abstract
BACKGROUND: We sought to understand what distinguishes people who confront health challenges but still manage to thrive. This study investigated whether resilience helps to explain the impact of health challenges on quality of life (QOL) outcomes, and how resilience relates to appraisal.
METHODS: A web-based survey of rare-disease panel participants included the Centers for Disease Control Healthy Days Core Module, the PROMIS-10, and comorbidities. The QOL Appraisal Profile-v2 assessed cognitive processes underlying QOL. Resilience was operationalized statistically using residual modeling, and hierarchical regressions tested the mediation hypothesis that resilience accounts for a significant amount of the relationship of appraisal to QOL.
RESULTS: The study sample (n = 3,324; mean age 50; 86% female; 90% White) represented a range of diagnostic codes, with cancer and diseases of the nervous system being the most prevalent health conditions. After adjusting for comorbidities (catalysts), resilience was associated with better physical and emotional functioning, and different appraisal processes were associated with better or worse physical or emotional functioning. After controlling for catalysts, 62% of the association of Physical Functioning and 23% of the association between Emotional Functioning and appraisal were mediated by resilience. Physical and emotional resilience comprised some of the same appraisal processes, but physically resilient people were characterized by more appraisal processes than their emotionally resilient counterparts.
CONCLUSIONS: Resilient people employ different appraisal processes than non-resilient people, and these processes differ for physical and emotional outcomes. Resilience was a stronger mediator of the relationship between physical rather than emotional functioning and appraisal.

PMID: 28660463 [PubMed - indexed for MEDLINE]

Sonographic and Magnetic Resonance Imaging Characteristics of Juvenile Papillomatosis: Three Cases With Different Manifestations.

Ultrasound Q. 2017 Jun;33(2):174-178

Authors: Yilmaz R, Bayramoglu Z, Bicen F, Kayhan A, Yesil S, Acunas G

Abstract
Juvenile papillomatosis (JP) is an infrequently seen benign proliferative lesion in women younger than 30 years. Herein, we present different clinical manifestations of histopathologically proven JP of the breast, in addition to magnetic resonance and sonographic imaging features of these cases. Patient 1 exhibited nipple discharge and papillary carcinoma accompanied after the operation. Patient 2 presented with a giant mass with cystic and numerous solid nodular components that filled the entire right breast. Patient 3 exhibited cystic areas in a well-circumscribed hypoechoic solid mass besides ahypoechoic mass with indistinct borders, which was evaluated as multifocal JP.

PMID: 28538449 [PubMed - indexed for MEDLINE]

Ovarian Artery Embolization as a Treatment for Persistent Ovarian Remnant Syndrome.

Cardiovasc Intervent Radiol. 2017 Aug;40(8):1278-1280

Authors: Chan TL, Singh H, Benton AS, Harkins GJ

Abstract
Ovarian remnant syndrome (ORS) is a rare condition in which ovarian tissue persists at the site of prior oophorectomy and often causes debilitating pelvic pain. Gold standard of treatment is surgical resection. We report a case of persistent ORS in a 44-year-old female who was successfully treated with ovarian artery embolization after failure of standard medical and gynecologic therapies. The ovarian tissue remnant was reduced by 75% in volume, and the patient was near symptom-free four months after the procedure.

PMID: 28280977 [PubMed - indexed for MEDLINE]

The Rare Extragonadal Omental Teratoma: A Case Report.

J Minim Invasive Gynecol. 2017 Sep - Oct;24(6):1046-1048

Authors: Rampinelli F, Donarini P, Visenzi C, Ficarelli S, Gambino A, Ciravolo G

Abstract
Teratomas of extragonadal origin are extremely rare, and the most common extragonadal site to find teratomas is the omentum. Teratomas are typically found in women of reproductive age, but they are also seen in young girls and postmenopausal women. Generally, teratomas arise from germ cells that may induce different cells to originate from the 3 primitive embryonic layers. Three main theories have been proposed to explain their location. The present report summarizes these theories as well as describes a case of a mature cystic teratoma of the omentum that was managed by laparoscopic resection.

PMID: 28662988 [PubMed - indexed for MEDLINE]

Rare cancers: Challenges & issues.

Indian J Med Res. 2017 Jan;145(1):17-27

Authors: Pillai RK, Jayasree K

Abstract
Rare cancers account for about 22 per cent of all cancers diagnosed worldwide, disproportionately affecting some demographic groups, with an occurrence of less than 6 per 100,000 individuals annually. Many rare cancers in adults, adolescents and children are not curable, and patients and care providers have little option to take therapeutic decisions. The epidemiology of rare cancers is a challenging area of study but is inadequately addressed. Despite efforts mainly in some European nations, a few improvements have been observed in the management of rare cancers. Reasons for this obvious stagnation are multifactorial and are mainly inherent to logistical difficulties in carrying out clinical trials in very small patient populations, hesitation of the pharmaceutical industry to spend in small markets and complexity in creating adequate information for the development of cost-effective drugs. Rare cancers also face specific challenges that include late and incorrect diagnosis, lack of clinical expertise and lack of research interest and development of new therapies. The utilization of nationally representative study findings for the patients' evaluation may possibly offer chances to find out pathogenesis and prevalence, and this will eventually lead to control and prevention. Currently, advancing targeted therapies offer a great opportunity for the better management of rare cancers. Conducting clinical trials with small patient population, innovative clinical trial approach, prevailing controlling obstacles for international cooperation and financial support for research are the present challenges for rare cancers. The International Rare Cancers Initiative functions as a main platform for achieving new international clinical trials in rare tumours. This review delineates the current challenges and issues in the interpretation, management and research scenarios of rare cancers.

PMID: 28574010 [PubMed - indexed for MEDLINE]

Twenty-First Century Diseases: Commonly Rare and Rarely Common?

Antioxid Redox Signal. 2017 Sep 20;27(9):511-516

Authors: Daunert S, Sittampalam GS, Goldschmidt-Clermont PJ

Abstract
Alzheimer's drugs are failing at a rate of 99.6%, and success rate for drugs designed to help patients with this form of dementia is 47 times less than for drugs designed to help patients with cancers ( www.scientificamerican.com/article/why-alzheimer-s-drugs-keep-failing/2014 ). How can it be so difficult to produce a valuable drug for Alzheimer's disease? Each human has a unique genetic and epigenetic makeup, thus endowing individuals with a highly unique complement of genes, polymorphisms, mutations, RNAs, proteins, lipids, and complex sugars, resulting in distinct genome, proteome, metabolome, and also microbiome identity. This editorial is taking into account the uniqueness of each individual and surrounding environment, and stresses the point that a more accurate definition of a "common" disorder could be simply the amalgamation of a myriad of "rare" diseases. These rare diseases are being grouped together because they share a rather constant complement of common features and, indeed, generally respond to empirically developed treatments, leading to a positive outcome consistently. We make the case that it is highly unlikely that such treatments, despite their statistical success measured with large cohorts using standardized clinical research, will be effective on all patients until we increase the depth and fidelity of our understanding of the individual "rare" diseases that are grouped together in the "buckets" of common illnesses. Antioxid. Redox Signal. 27, 511-516.

PMID: 28482684 [PubMed - indexed for MEDLINE]

A clinical study of 21 patients with hemophagocytic syndrome in 295 cases diagnosed with nasal type, extranodal nature killer/T cell lymphoma.

Cancer Biol Ther. 2017 Apr 03;18(4):252-256

Authors: Li N, Zhang L, Liu J, Zhang J, Weng HW, Zhuo HY, Zou LQ

Abstract
Nasal type, extranodal nature killer (NK)/T cell lymphoma-associated hemophagocytic syndrome (NK/T-LAHS) is a rare and fatal disorder with extremely poor prognosis. To investigate its clinical characteristics and risk factors, we retrospectively analyzed 295 patients with nasal type, extranodal nature killer/T cell lymphoma, of which 21 were diagnosed with hemophagocytic syndrome, with a cumulative incidence of 7.1%. The most frequently clinical characteristics were fever, lymphadenopathy, hepatosplenomegaly, pancytopenia, hyperferritinemia, liver dysfunction, hypertriglyceridemia, hypofibrinogenemia and evaluated lactate dehydrogenase (LDH) level. After a median follow-up of 27 months, the 2-year survival for the 295 patients was 74.6%. Significant difference for 2-year survival was found between patients with and without hemophagocytic syndrome (4.8% vs. 80.0%, P<0.001). After developing hemophagocytic syndrome, all patients survived no more than 3 months, with a median survival of 35 days. Risk factors for NK/T-LAHS were bone marrow (BM) involvement (P = 0.019; relative risk, 13.649; 95% confidence interval (CI): 1.538-121.103), hepatosplenomegaly (P = 0.003; relative risk, 9.616; 95%CI: 2.154-42.918), and elevated LDH level (>314U/L) (P = 0.038; relative risk, 6.293; 95%CI: 1.108-35.735). We conducted a risk model for all 295 patients based on the 3 adverse factors as follows: low risk (233 cases, 79.0%), no factor; intermediate risk (43 cases, 14.6%), one factor; high risk (19 cases, 6.4%), 2 or 3 factors. The probabilities for developing LAHS were 0.9% for low-, 14.0% for intermediate-, and 68.4% for high-risk group. Significant differences in the 3 risk groups were observed (P<0.001).

PMID: 28278074 [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 2018/03/09

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 2018/03/09

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.

Atypical chronic myeloid leukaemia: A case of an orphan disease-A multicenter report by the Polish Adult Leukemia Group.

Hematol Oncol. 2018 Mar 07;:

Authors: Drozd-Sokołowska J, Mądry K, Waszczuk-Gajda A, Biecek P, Szwedyk P, Budziszewska K, Raźny M, Dutka M, Obara A, Wasilewska E, Lewandowski K, Piekarska A, Bober G, Krzemień H, Stella-Hołowiecka B, Kapelko-Słowik K, Sawicki W, Paszkowska-Kowalewska M, Machowicz R, Dwilewicz-Trojaczek J

Abstract
Atypical chronic myeloid leukaemia (aCML) belongs to myelodysplastic/myeloproliferative neoplasms. Because of its rarity and changing diagnostic criteria throughout subsequent classifications, data on aCML are very scarce. Therefore, we at the Polish Adult Leukemia Group performed a nationwide survey on aCML. Eleven biggest Polish centres participated in the study. Altogether, 45 patients were reported, among whom only 18 patients (40%) fulfilled diagnostic criteria. Among misdiagnosed patients, myelodysplastic/myeloproliferative syndrome unclassifiable and chronic myelomonocytic leukaemia were the most frequent diagnoses. Thirteen patients were male, median age 64.6 years (range 40.4-80.9). The median parameters at diagnosis were as follows: white blood cell count 97 × 109 /L (23.8-342) with immature progenitors amounting at 27.5% (12-72), haemoglobin 8.6 g/dL (3.9-14.9), and platelet count 66 × 109 /L (34-833). Cytoreductive treatment was used in all patients, and 2 patients underwent allogeneic hematopoietic stem cell transplantation. The median overall survival was 14.1 months (95% CI, 7.2), with median acute myeloid leukaemia-free survival of 13.3 months (95% CI, 3.6-22.6). Cumulative incidence of acute myeloid leukaemia transformation after 1 year in aCML group was 12.5% (95% CI, 0%-29.6%). To conclude, aCML harbours a poor prognosis. Treatment options are limited, with allogeneic hematopoietic stem cell transplantation being the only curative method at present, although only a minority of patients are transplant eligible. Educational measures are needed to improve the quality of diagnoses.

PMID: 29512182 [PubMed - as supplied by publisher]