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 2018/08/14

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 2018/08/11

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 2018/08/11

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.

Morvan's syndrome-is a pathogen behind the curtain?

Neurol Sci. 2018 Aug 09;:

Authors: Singh R, Das P, Kaur U, Misra A, Choudhury A, Manna S, Gaude R, Gautam D, Gambhir IS, Chakrabarti SS

Abstract
Morvan's syndrome is a rare syndrome of likely autoimmune etiology characterized by peripheral nerve hyperexcitability, dysautonomia, insomnia, and fluctuating delirium with prominent hallucinations. Since its first mention in 1890, less than 100 cases have been described in literature. The largest existing review includes details of 29 cases. This case series describes 4 cases (M = 4) of Morvan's syndrome which presented between May and November 2017 to a single tertiary care referral teaching hospital in north India. All the four patients manifested behavioral abnormalities, sleep disturbances, hallucinations, autonomic dysfunction, and clinical signs of peripheral nerve hyperexcitability, mostly as myokymia. Two of the patients had Anti-CASPR2 (contactin-associated protein 2) antibodies. Three of them had electromyography features of peripheral nerve hyperexcitability and only one had elevated cerebrospinal fluid protein level. We hypothesize that Morvan's syndrome and other less characterized autoimmune encephalitis/peripheral nervous system syndromes may have infectious triggers. A possible viral trigger may result in generation of autoantibodies which result in the typical manifestations. We base these hypotheses on the finding of four cases of an orphan disease within a short period of time in a limited geographical distribution.

PMID: 30090985 [PubMed - as supplied by publisher]

Management of Rare Craniofacial Anomalies With Soft Tissue Reconstruction on Humanitarian Missions.

J Craniofac Surg. 2018 Mar;29(2):452-456

Authors: Abulezz T, Fadaak HA

Abstract
In poor communities, patients may suffer from health problems requiring special management that cannot be provided locally because of lack of equipment and/or expertise. Children with craniofacial anomalies represent one of these challenging problems. Visiting medical missionary teams have attempted to address these issues for a long time. This article highlights healthcare difficulties in one of the third-world countries with personally based trials for providing free surgeries in tough situation and with hardly available diagnostic and therapeutic facilities. During 15 years, >5000 surgeries were performed in repeated missionary visits. The majority of operations were to correct post-burn complications or to repair cleft lip and/or palate. Of 33 cases of rare craniofacial anomalies, 14 patients were treated with simple soft tissue reconstruction without interference in the underlying bone deformities. This may not be optimal; however, it can give good results even with the limited resources.

PMID: 29509173 [PubMed - indexed for MEDLINE]

Colovesical fistula: a rare complication after renal transplantation.

BMJ Case Rep. 2018 Jan 06;2018:

Authors: Subbiah A, Mahajan S, Yadav RK, Agarwal SK

Abstract
Colovesical fistula per se is a rare condition and most commonly occurs secondary to diverticular disease in normal patients. Colovesical fistula in the setting of post-renal transplantation is even rarer and very few cases have been reported in literature. Patients with autosomal-dominant polycystic kidney disease (ADPKD) are predisposed to diverticulosis and hence are at a higher risk for fistula formation. Herein, we report a case of colovesical fistula in a renal allograft recipient with ADPKD in the absence of diverticulosis. The patient was successfully operated and is stable with no complications at 1-year follow-up.

PMID: 29306857 [PubMed - indexed for MEDLINE]

Rare and unusual presentation of Cladophialophora infection in a pulmonary transplant cystic fibrosis patient.

Transpl Infect Dis. 2017 Dec;19(6):

Authors: Reynaud Q, Dupont D, Nove-Josserand R, Durupt S, Persat F, Ader F, Grenet D, Durieu I

Abstract
A 35-year-old woman with severe cystic fibrosis was admitted for sudden loss of strength in both legs, revealing a myelitis. The medullary lesion biopsy revealed phaeohyphomycosis caused by Cladophialophora species. Myelitis caused by Cladophialophora bantiana is a rare disease associated with high mortality.

PMID: 28994224 [PubMed - indexed for MEDLINE]

Global Guidelines and Initiatives from the European Confederation of Medical Mycology to improve Patient Care and Research Worldwide: New Leadership is about Working Together.

Mycoses. 2018 Aug 07;:

Authors: Hoenigl M, Gangneux JP, Segal E, Alanio A, Chakrabarti A, Chen SC, Govender N, Hagen F, Klimko N, Meis JF, Pasqualotto AC, Seidel D, Walsh TJ, Lagrou K, Lass-Flörl C, Cornely OA, European Confederation of Medical Mycology (ECMM)

Abstract
Invasive mycoses present a global challenge with expansion into new hosts, emergence of new pathogens, and development of multidrug resistance. In parallel, new antifungal agents and advanced laboratory diagnostic systems are being developed. In response to these evolving challenges, the European Confederation of Medical Mycology (ECMM) is committed to providing international expertise, guidance, and leadership with the key objectives of improving diagnosis, treatment, outcome, and survival of persons with invasive fungal diseases. Representing 25 affiliated National Medical Mycology Societies, the ECMM has developed several major ways to achieving these critical objectives: [1] tasking specific medical mycology working groups; [2] founding the ECMM Academy and Fellow program (FECMM); [3] expanding the goals of ECMM beyond the European region; [4] implementing the ECMM Excellence Centre Initiative in Europe; and [5] the ECMM Global Guidelines and Neglected Orphan Disease Guidance Initiatives focusing on mucormycosis, rare mold diseases, rare yeast diseases, and endemic mycoses. We believe that these important initiatives and other strategies of the ECMM will advance the field of medical mycology and improve the outcome of patients with invasive mycoses worldwide. This article is protected by copyright. All rights reserved.

PMID: 30086186 [PubMed - as supplied by publisher]

Uvular necrosis following diagnostic gastroscopy.

BMJ Case Rep. 2017 Dec 20;2017:

Authors: Digby-Bell J, Zeki S

Abstract
Uvular necrosis is an extremely rare complication of gastroscopy. We describe the fifth published case of uvular necrosis following an uncomplicated diagnostic gastroscopy in a young man. Presentation with severe sore throat and inability to swallow saliva occurred within 24 hours of gastroscopy and resolved with conservative treatment.

PMID: 29269361 [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 2018/08/07

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.

Special Protocols for Special Patients.

EMS World. 2017 05;46(5):21-23, 25

Authors: Rubin M

PMID: 29989726 [PubMed - indexed for MEDLINE]

Osteoid osteoma of the pisiform bone: A rare cause of wrist pain.

Hand Surg Rehabil. 2016 09;35(4):296-298

Authors: Claeys R, Walsdorff M, Pargov S, Matasa R, Duttmann R, Cannie M

Abstract
Non-traumatic wrist pain remains a diagnostic challenge. An accurate diagnosis is crucial in order to choose the appropriate treatment. We report the case of a 23-year-old female with a four-month history of mainly nocturnal wrist pain. There was no history of trauma or prior surgery. Radiographs and CT scans showed a lytic lesion with central nidus and sclerotic margins in the pisiform bone. Bone scan showed increased uptake in the pisiform bone. The diagnosis of osteoid osteoma was confirmed by histopathological analysis after complete surgical resection. Osteoid osteoma of the carpal bones is a rare cause of wrist pain and can raise diagnostic issues. Diagnosis is based on both clinical and radiological features; histopathological analysis can confirm the diagnosis. Treatment depends on several criteria and multiple options are possible, but surgical excision is often preferred for the wrist. Osteoid osteoma should always be considered in young patients presenting with chronic unexplained wrist pain.

PMID: 27781996 [PubMed - indexed for MEDLINE]

Adult linear IgA bullous dermatosis: report of three cases.

An Bras Dermatol. 2018 Jun;93(3):435-437

Authors: Machado TYS, Enokihara MMSES, Iida TM, Porro AM

Abstract
Linear immunoglobulin A bullous dermatosis is a rare autoimmune disease that usually has an excellent prognosis in childhood; however, its control is more difficult in adults. It presents heterogeneous clinical manifestations and is frequently confused with other bullous diseases such as bullous pemphigoid and Duhring's dermatitis herpetiformis. Dermatologists' awareness of this disease contributes to early diagnosis and appropriate treatment. We thus report three cases of linear immunoglobulin A dermatosis in adults.

PMID: 29924252 [PubMed - indexed for MEDLINE]

[SOLAR URTICARIA].

Harefuah. 2016 Oct;155(10):604-607

Authors: Sabbah F, Hodak E, Levi A

Abstract
INTRODUCTION: Solar urticaria is a rare photodermatosis. It belongs to the group of physical urticarias. In this particular urticarial, erythema and whealing accompanied by pruritus occur seconds to minutes after exposure to light. The disease might have a severe impact on the patient's quality of life. A correct diagnosis is important in order to allow proper treatment, which is often challenging. A characteristic patient is described with a review of the epidemiology, clinical manifestations, etiology, diagnosis, treatment course and prognosis of this rare disease.

PMID: 28530058 [PubMed - indexed for MEDLINE]

Penile refracture: a preliminary report.

Int Braz J Urol. 2018 Jul-Aug;44(4):800-804

Authors: Barros R, Guimarães M, Nascimento C, Araújo LR, Koifman L, Favorito LA

Abstract
OBJECTIVE: To report our institutional experience with penile refracture, including demographic data, recurrence time, etiology and operative findings in the first and second episodes.
MATERIALS AND METHODS: Between January 1982 and September 2017, 281 patients underwent surgical treatment for penile fracture (PF) at our institution. Demographic data, clinical presentation, besides operative findings and follow-up of patients with relapsed PF were retrospectively assessed by reviewing medical records.
RESULTS: Of a total of 281 cases of PF operated at our institution, 3 (1.06%) patients experienced two episodes of trauma. Age ranged from 38 - 40 years (mean: 39.3). The recurrence time varied from 45 to 1560 days (mean: 705). Two patients presented the new fracture episode at the same site of the previous lesion, while in the other case the lesion was observed at another site.
CONCLUSION: Recurrent FP is an extremely rare entity. The risk factors for its occurrence are still unknown. Although the lesion of the corpus cavernosum ipsilateral to the scar tissue of the prior FP is more common, contralateral rupture may be present. Nevertheless, prospective studies with larger samples should be conducted.

PMID: 29757574 [PubMed - indexed for MEDLINE]

Mistletoe and Garlic Extracts as Polyurethane Carriers - A Possible Remedy for Choroidal Melanoma.

Curr Drug Deliv. 2017;14(8):1178-1188

Authors: Munteanu MF, Ardelean A, Borcan F, Trifunschi SI, Gligor R, Ardelean SA, Coricovac D, Pinzaru I, Andrica F, Borcan LC

Abstract
BACKGROUND: Melanoma is known as the most dangerous form of skin cancer; whereas the malignant choroidal melanoma is an orphan disease known as the most common primary intraocular malignancy in adults. Literature suggests that the consumption of garlic and mistletoe leads to a reduced risk of developing cancer.
OBJECTIVE: The aim of this study was the obtaining and the characterization of polymer structures containing mistletoe or garlic extract.
METHODS: The structures were obtained in a polyaddition process combined with a spontaneous emulsification; they were characterized by pH, size, Zeta potential and DSC measurements, evaluation of encapsulation efficacy, penetrability through membranes and in vitro cytotoxicity tests.
RESULTS: The microstructures present sizes between 1.05 and 2.60 µm and Zeta potentials between -7 and +36 mV. A good encapsulation was observed on different evaluations (88-92%). It was determined that approx. 30% of polymer microstructures containing vegetal extracts pass through an artificial membrane in 4 days. An in vitro cytotoxicity test revealed that these products are safe for administration. The analysis of antitumor efficacy indicates that garlic extracts have important effects after 48 and 72 hours on A375 cells; however, polymer microstructures with herbal extracts did not reveal antiproliferative activities on A375 cells because these polymer structures present a slow degradation.
CONCLUSION: Sterile eye drops solutions based on polymer microstructures containing garlic or mistletoe extracts were obtained; the sample based on garlic extracts may be used in the pharmaceutical field as drug carrier with an antiproliferative effect which occurs after a prolong period.

PMID: 28128068 [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 2018/07/31

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.

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 2018/07/31

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.

Bilateral vision loss due to Leber's hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse.

Doc Ophthalmol. 2018 04;136(2):145-153

Authors: Maass J, Matthé E

Abstract
PURPOSE: Leber's hereditary optic neuropathy is relatively rare, and no clinical pathognomonic signs exist. We present a rare case of bilateral vision loss of a patient with multiple drug abuse in the history.
OBSERVATION: A 31-year-old man presented with a history of progressive, decreased vision in both eyes for 6 month. On examination, his visual acuity was hand motion in both eyes. Funduscopy demonstrated a temporal pallor of the optic disc. Goldmann visual field perimetry showed a crescent visual field in the right eye and a circular decrease to less than 50 ° in the left eye. Electroretinogram showed a scotopic b-wave amplitude reduction. Optical coherence tomographies, Heidelberg Retina tomography, visual evoked potentials, and magnetic resonance imaging with contrast as well as blood tests were normal. The patient reported to consume various kinds of drugs as well as recreational drug use and alcohol consumption since he was 16 years old. We started a hemodilution therapy, believing the patient suffered from a bilateral, toxic optic neuropathy due to his lifestyle. Laboratory results later on showed Leber's hereditary optic neuropathy.
CONCLUSION AND IMPORTANCE: Leber's hereditary optic neuropathy is a rare disease without a typical, pathognomonic presentation. Even though the patient gave good reasons for a toxic optic neuropathy, one should never stop to test for other diseases.

PMID: 29372350 [PubMed - indexed for MEDLINE]

Matchmaker Exchange.

Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15

Authors: Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL, Matchmaker Exchange Consortium

Abstract
In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism; variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of inheritance investigated; and inadequate communication between clinicians and basic scientists with knowledge of particular genes, proteins, or biological systems. To facilitate such communication and improve the search for patients or model organisms with similar phenotypes and variants in specific candidate genes, we have developed the Matchmaker Exchange (MME). MME was created to establish a federated network connecting databases of genomic and phenotypic data using a common application programming interface (API). To date, seven databases can exchange data using the API (GeneMatcher, PhenomeCentral, DECIPHER, MyGene2, matchbox, Australian Genomics Health Alliance Patient Archive, and Monarch Initiative; the latter included for model organism matching). This article guides usage of the MME for rare disease gene discovery. © 2017 by John Wiley & Sons, Inc.

PMID: 29044468 [PubMed - indexed for MEDLINE]