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 2020/07/22

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.

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 2020/07/22

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.

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 2020/07/21

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 2020/07/18

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 2020/07/18

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 2020/07/17

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 2020/07/17

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.

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Nat Neurosci. 2020 Jul 14;:

Authors: Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA

Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.

PMID: 32665711 [PubMed - as supplied by publisher]

Effect of Lomerizine Hydrochloride on Preventing Strokes in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Clin Neuropharmacol. 2020 Jul 10;:

Authors: Watanabe-Hosomi A, Mizuta I, Koizumi T, Yokota I, Mukai M, Hamano A, Kondo M, Fujii A, Matsui M, Matsuo K, Ito K, Teramukai S, Yamada K, Nakagawa M, Mizuno T

Abstract
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an orphan disease clinically characterized by migraine, recurrent strokes, and dementia. Currently, there are no disease-modifying therapies, and it is difficult to prevent cerebral ischemic events in CADASIL patients by conventional antithrombotic medication. We hypothesized that an antimigraine agent, lomerizine hydrochloride, may prevent strokes in CADASIL patients, based on its effect on increasing cerebral blood flow.
SUBJECTS AND METHODS: This was an open-labeled clinical trial in which 30 adult CADASIL patients received lomerizine at 10 mg/d. Numbers of symptomatic strokes during the 2 years after the start of lomerizine administration were compared with those in the 2 years before its initiation. The effect of lomerizine on preventing strokes was evaluated based on the incidence rate ratio (IR) calculated with the Mantel-Haenszel method.
RESULTS: When including all 30 patients (analysis 1), the IR was less than 1 (0.46; 95% confidence interval [CI], 0.19-1.12) but did not reach significance. To evaluate the effect of lomerizine on secondary prevention, subgroups of 15 patients with stroke episodes occurring any time before lomerizine administration (analysis 2) and 10 patients with stroke episodes during the 2 years before lomerizine administration (analysis 3) were analyzed. The IR values were 0.33 (95% CI, 0.12-0.94) in analysis 2 and 0.17 (95% CI, 0.04-0.67) in analysis 3.
CONCLUSIONS: Our results suggest the effect of lomerizine on preventing secondary stroke in CADASIL patients.

PMID: 32665457 [PubMed - as supplied by publisher]

Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.

Curr Protoc Hum Genet. 2020 Sep;107(1):e102

Authors: Chu C, Zhao B, Park PJ, Lee EA

Abstract
Transposable element (TE) mobilization is a significant source of genomic variation and has been associated with various human diseases. The exponential growth of population-scale whole-genome sequencing and rapid innovations in long-read sequencing technologies provide unprecedented opportunities to study TE insertions and their functional impact in human health and disease. Identifying TE insertions, however, is challenging due to the repetitive nature of the TE sequences. Here, we review computational approaches to detecting and genotyping TE insertions using short- and long-read sequencing and discuss the strengths and weaknesses of different approaches. © 2020 Wiley Periodicals LLC.

PMID: 32662945 [PubMed - as supplied by publisher]

Charting Early Developmental Trajectory of a Pilot Rare Disease Registry in Slovenia.

Stud Health Technol Inform. 2020 Jun 26;272:213-216

Authors: Stanimirovic D, Murko E, Battelino T, Groselj U

Abstract
Active surveillance of rare diseases enables evidence-informed policymaking, wide-ranging monitoring of rare disease patients, and subsequently assists progressively complex clinical and research needs. This article charts the initial steps for the development of a pilot rare disease registry in Slovenia. The research applies a case study design, while the collection of data was carried out through focus group discussions with 24 eminent experts from the field. The research results reveal the necessity for choosing an adequate development approach and point out that successful development of the national rare disease registry requires well-orchestrated efforts of all stakeholders. This inevitably includes effective preparation and implementation of the national rare disease policy, along with the divergence of clinical, organizational, and technological factors, and their integration with the long-standing public health goals.

PMID: 32604639 [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 2020/07/14

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.

Orphan Medicines for Pediatric Use: A Focus on the European Union.

Clin Ther. 2019 12;41(12):2630-2642

Authors: Bolislis WR, Corriol-Rohou S, Hill-Venning C, Hoogland H, Joos A, King D, Kitcatt V, Le Visage G, Kühler TC

Abstract
PURPOSE: European policy makers have provided a number of incentives for the development of medicines for orphan diseases as early as 1999 through the Orphan Regulation and created obligations for medicines developers to investigate their products in children through the Paediatric Regulation adopted in 2006. This article describes the challenges that developers of orphan medicines are facing with pediatric indications, discusses the interplay between the Orphan Regulation and the Paediatric Regulation, and provides some recommendations on how to optimize drug development under the current European Union regulatory framework.
METHODS: This article discusses the European Union's Orphan Regulation, Paediatric Regulation, and the implications of the intersection of the regulations on the development of orphan medicines for pediatric use.
FINDINGS: Although these regulations have been successful in meeting their objectives separately, different regulatory frameworks entail separate governance, multiple assessments, varying approaches and priorities to unmet medical needs, and joined-up regulatory process coordination. Better integration of regulatory pathways would therefore be helpful in stimulating more global drug development of pediatric orphan medicines, including optimizing the interaction between both regulations, using innovative drug development approaches while considering alternatives to randomized clinical trials, better identification and prioritization of unmet medical needs in pediatrics, and ensuring the alignment of regulatory processes.
IMPLICATIONS: Rare diseases are categorized as "orphan diseases" because their occurrence in a small number of patients means that, regardless of the apparent high unmet medical need, there is limited public and market interest to justify the high development risk and significant investment to develop new treatments. However, unexplored potential within the area, as well as a conducive regulatory environment, can further support the development of medicines to treat rare diseases, including for children.

PMID: 31704041 [PubMed - indexed for MEDLINE]

A rare case of trichilemmal ovarian carcinoma. Case report and review of the literature.

G Chir. 2019 Jul-Aug;40(4):334-337

Authors: Leanza V, Nobile V, Galvagno C, Di Grazia FM, Palumbo M, Leanza G

Abstract
Trichilemmal ovarian carcinoma is very rare. A 52-years-old woman was admitted to University Hospital Department suffering from pain in the left iliaca fossa lasting for three months. Uterus was normal in size, painless as well as right adnexum. On the left site ovary was increased in volume and slightly sore. Transvaginal ultrasounds showed a 97x65x86 mm mixed vascularized unilocular mass. CT scan detected a pelvic expansion with a heterogeneous density due to the presence of different structures varying from fat to bone tissue. A proper informed consent was obtained and a suprapubic transversal laparotomy according to Pfannenstiel was carried out. Ovarian mass and ipsilateral tube were removed with no rupture. The anatomical extemporaneous result was of benign dermoid cyst. The postoperative course was uneventful and after three days the patient was discharged in regular conditions and was recommended to come for final anatomical result. Following a month, the final histological answer was of 15 mm trichilemmal malignant tumor in a context of a large benign dermoid cyst. The neoplastic lesion appears to be entirely contained within the limits of the swollen mass. The outer surface was with no lesions. A case of trichilemmal malignant tumor involving ovary has not been published so far.

PMID: 32011988 [PubMed - indexed for MEDLINE]

Bilateral overuse myositis ossificans of the triceps: report of an unusual case.

G Chir. 2019 Jul-Aug;40(4):325-329

Authors: Georgoulis S, Koutserimpas C

Abstract
Overuse myositis ossificans is considered an extremely rare diagnosis, with only a few cases reported so far. A case of a 54-year-old firefighter, involved regularly in training exercises, with bilateral myositis ossificans of the triceps, is presented. The patient had a 4 year history of painful masses at the posterior region of both arms. He never experienced any traumatic event, while physical examination revealed firm masses extending longitudinally within the lateral head of the triceps, bilaterally. The patient had painful restricted range of motion at both sides. Plain X-ray views of the humerus showed linear lobulated heterogeneous masses posterolateral. Surgical resection of both masses, which extended intramuscularly through the whole lateral triceps' head, was performed. Histological examination confirmed the diagnosis of myositis ossificans. Myositis ossificans represents a benign, relative rare clinical entity, defined as heterotopic ossification of the soft tissues. Only 5 cases of myositis ossificans due to overuse have been described so far. The present case is unique, since it is the first one describing bilateral appearance of two masses which extended through the whole length of the lateral head of the triceps. A detailed medical history, as well as imaging examination seem to be necessary in order to establish the diagnosis. Treatment should be decided upon the stage of the lesion. For mature lesions surgical treatment is advised.

PMID: 32011986 [PubMed - indexed for MEDLINE]

Nuck canal cyst involving right femoral vein: management and therapy of a rare clinical case.

G Chir. 2019 Jul-Aug;40(4):318-321

Authors: Leanza V, D'Antoni S, Lo Presti V, Zanghì G, Vecchio R, Leanza G, Basile F

Abstract
We present a very rare case of a 49-year old woman suffering from Nuck canal cyst reaching and compressing femoral vein. Nuck canal cyst is very uncommon event because the pouch accompanying the gubernaculum during intrauterine descent of ovaries usually obliterates, whereas when it persists a cystic cavity containing citrine fluid develops. A gravid 0 para 0 49 old woman was admitted to Catania University Surgery Department owing to suspected lymphatic tumor compressing right femoral vein and causing groin pain with ipsilateral leg partial stasis. Patient believed right venous stasis was due to fibromatous uterus. Ultrasounds and computed tomography (CT) scan defined size (7.1 × 4.2 × 1.5 cm), structure (cystic) of mass and its relation with femoral vein, although they were not diriment for diagnosing its nature. Color Doppler detected circulatory function of compressed femoral vein. Surgery was challenging and Nuck cyst was removed after accurate separation from the right femoral venous walls. A case of Nuck cyst involving femoral vein has never been reported so far.

PMID: 32011984 [PubMed - indexed for MEDLINE]

Mass of the neck: an extremely rare location of hydatid disease.

G Chir. 2019 Jul-Aug;40(4):313-317

Authors: Siaperas P, Zoikas A, Ioannidis A, Karanikas I

Abstract
Hydatid disease (HD) is a parasitic zoonosis which was first described by Hippocrates in the ancient years. Liver and lungs are the most commonly affected organs, while neck involvement is extremely rare. We report a case of a 75-year old male, who presented with an isolated right-side cervical mass. After clinical examination and screening tests, HD was diagnosed. Pre-operative and post-operative treatment with albendazole was administered and en-block surgical excision of the mass was performed. Histopathological examination of the specimen confirmed the diagnosis of HD. At one-year follow-up, the patient remained asymptomatic without any signs of recurrence. Although HD of the neck is an extremely rare entity, physicians should always include it in the differential diagnosis of neck masses.

PMID: 32011983 [PubMed - indexed for MEDLINE]

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Turk J Pediatr. 2019;61(2):282-285

Authors: Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P

Abstract
Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively. Deficiency of methionine synthase activity may result in megaloblastic anemia without methylmalonic aciduria and neuromuscular abnormality of varying severity. Delayed milestones, ataxia, cerebral atrophy, muscular hypotonia, neonatal seizures, and blindness have been reported as the associated clinical findings. Early diagnosis and treatment are crucial for a more favorable diagnosis of the affected cases. Herein we report a three-month-old boy with CblG disease who presented with failure to thrive, chronic diarrhea, feeding intolerance, oral ulcers, microcephaly and hypotonia, and showed a dramatic response to treatment. In the first few months of life, megaloblastic anemia accompanied by apparent neurological involvement should direct physicians to order examinations like measurement of total homocysteine and methylmalonic acid levels to detect possible forms of inherited Cbl intracellular metabolism disorders.

PMID: 31951343 [PubMed - indexed for MEDLINE]

A rare chromosomal disorder in a newborn: Trisomy 3q.

Turk J Pediatr. 2019;61(2):271-274

Authors: Kahvecioğlu D, Tatar-Aksoy H, Yıldız E, Bakır A, Alioğlu B

Abstract
Kahvecioğlu D, Tatar-Aksoy H, Yıldız E, Bakır A, Alioğlu B. A rare chromosomal disorder in a newborn: Trisomy 3q. Turk J Pediatr 2019; 61: 271-274. Trisomy 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities. We hereby present a patient with chromosomal karyotype 46, XY, dup (3)(q23-29), which can be classified as pure 3q duplication and has thin sclera and iris dysgenesis, anterior and posterior segment dysgenesis besides the previously identified specific facial features. To the best of our knowledge only 12 cases have been reported with pure duplication in the literature. Our case is the 13th one reported and has noval findings concerning eye involvement. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of genes which are responsible for eye development in this chromosomal region.

PMID: 31951340 [PubMed - indexed for MEDLINE]

14 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 2020/07/08

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.