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 2021/02/16

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 2021/02/16

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.

MMW Fortschr Med. 2021 Feb;163(3):18-19. doi: 10.1007/s15006-021-9634-z.

NO ABSTRACT

PMID:33591501 | DOI:10.1007/s15006-021-9634-z

Sleep Med. 2021 Jan 29;80:86-91. doi: 10.1016/j.sleep.2021.01.031. Online ahead of print.

ABSTRACT

INTRODUCTION: Idiopathic hypersomnia (IH) is a rare orphan disease characterized by excessive daytime sleepiness, frequently accompanied by prolonged nocturnal sleep and difficulties awakening, termed sleep inertia or sleep drunkenness. Severe sleepiness usually causes a greater handicap than manifestations of narcolepsy.

METHODS: Forty-three IH patients (17 male, mean age 42.8 ± SD 12.2 years, range 20-67), diagnosed in the past 20 years according to ICSD-2 or ICSD-3 criteria were invited for clinical examination to evaluate the course, manifestations and severity of the disease, as well as clinical comorbidities. The patients completed a set of questionnaires scoring sleepiness, sleep inertia, fatigue, depression, anxiety, circadian preference, and quality of life.

RESULTS: IH patients were divided according to the duration of nocturnal sleep at the time of their diagnosis into two cohorts: (1) with normal sleep duration (n = 25, 58.1%) and (2) with long sleep duration (n = 18, 41.9%). The mean duration of ad libitum sleep per 22 h in the second cohort was 732.0 ± 115.4 min (range 603-1100), and women markedly prevailed (n = 14, 77.8%). Age at disease onset was younger in the group with long sleep duration (21.2 ± 11.4 years versus 28.1 ± 13.6 years, p = 0.028), their MSLT latency was longer (7.2 ± 3.7 min versus 5.1 ± 1.7 min, p = 0.005), a history of sleep inertia prevailed (p = 0.005), and daily naps were mostly non-refreshing (p = 0.014). Additionally, questionnaires in the group with long sleep duration showed more severe sleep inertia (p = 0.007), fatigue (p = 0.004), and a tendency towards evening chronotype (p = 0.001).

CONCLUSIONS: IH patients with long sleep duration differ clinically as well as by objective measures at the time of diagnosis and in long-term follow up from IH patients without long 24-h sleep time. In our opinion they represent an independent clinical entity to be considered in the revised ICSD-3 criteria.

PMID:33588261 | DOI:10.1016/j.sleep.2021.01.031

J Manag Care Spec Pharm. 2021 Feb 15:1-8. doi: 10.18553/jmcp.2021.20553. Online ahead of print.

ABSTRACT

BACKGROUND: As an increasing number of orphan drugs are FDA approved, health care payers, employers, and providers are attempting to strike a balance between patient access to innovative treatments and overall affordability. Payers and employers are evaluating how traditional specialty pharmacy management strategies and innovative models can support continued coverage of orphan drugs. OBJECTIVE: To understand how health care stakeholders are meeting the financial challenges posed by the increasing number and cost of orphan drugs and how these strategies are affecting orphan drug acquisition for providers. METHODS: A survey was conducted with payer, provider, and employer decision makers recruited from both AMCP and a proprietary database of market-access decision makers in July and August 2020. Respondents were asked about their experiences and activities in the orphan disease space, including tactics to manage affordability of drugs to treat orphan diseases. RESULTS: Reinsurance was the most commonly utilized strategy to maintain affordability of the benefit for both payers (42%) and employers (55%). Although 31% of payers have adopted gene therapy carve-outs, no employers had done so. Approximately three quarters (76%) of payers believe that limited distribution networks impede their abilities to manage orphan drugs, compared with 4% who believe limited networks improve orphan drug management. For most payers (78%), the decision to cover orphan drugs on either the medical or pharmacy benefit depends on the specific drug. Medical benefit coverage was driven primarily by site-of-care policies (55%) and the lower drug cost of average sales price pricing (50%). Pharmacy benefit coverage was driven primarily by a greater ability to manage the orphan drug (71%) and by rebates (62%). One in 3 (33%) of providers with experience treating orphan diseases acquire orphan drugs exclusively through buy and bill, whereas 10% acquire them exclusively through a specialty pharmacy provider. Buy-and-bill acquisition by providers was driven primarily by improved patient affordability (47%) and 340b pricing (47%). Specialty pharmacy provider acquisition was driven primarily by payer requirements (64%) and reduced administrative burden (64%). CONCLUSIONS: Payers and employers are adopting innovative benefit designs and strategies to cover orphan drugs while maintaining plan affordability. Cost considerations are prominent factors in determining whether orphan drugs will be covered under the pharmacy or medical benefit and how providers will acquire orphan drugs. DISCLOSURES: This research was sponsored by AMCP and PRECISIONvalue. Lopata, Terrone, and Gopalan are employees of PRECISIONvalue. Ladikos and Richardson are employees of AMPC. The authors have nothing further to disclose. This research was presented during the AMCP Partnership Forum "Preparing for and Managing Rare Diseases" held virtually September 8-10, 2020.

PMID:33586514 | DOI:10.18553/jmcp.2021.20553

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 2021/02/13

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.

BMJ Case Rep. 2021 Feb 12;14(2):e239085. doi: 10.1136/bcr-2020-239085.

ABSTRACT

This is a rare case report of two filamentous fungi in a patient with contact lens related keratitis. An early corneal scrape may be useful in detecting multiple causative pathogens and aiding management. The main learning point is to consider fungal infections in patients with atypical ulcer appearances, as prompt diagnosis may reduce the morbidity burden.

PMID:33579798 | DOI:10.1136/bcr-2020-239085

Small cell carcinoma of the pancreas: a rare neuroendocrine tumour.

BMJ Case Rep. 2020 Jul 22;13(7):

Authors: Rajendran T, Katta B, Shaikh OH, Kumbhar US

Abstract
Primary small cell carcinoma (SCC) of the pancreas is a rare disease with poor prognosis. Very few cases have been reported in the literature. It is a type of poorly differentiated variety of neuroendocrine tumours of the pancreas with specific immunohistochemical markers. Imaging is not diagnostic for disease, and diagnosis is mainly by biopsy. We report a rare case of SCC of the pancreas who presented with features of obstructive jaundice without any paraneoplastic features. The patient is planned for palliative chemotherapy because of metastasis and is under regular follow-up.

PMID: 32699058 [PubMed - indexed for MEDLINE]

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma.

BMJ Case Rep. 2020 Jul 07;13(7):

Authors: Alam S, Boro H, Goyal A, Khadgawat R

Abstract
Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.

PMID: 32641439 [PubMed - indexed for MEDLINE]

Design, development and deployment of a web-based patient registry for rare genetic lipid disorders.

Pathology. 2020 Jun;52(4):447-452

Authors: Napier KR, Hooper AJ, Ng DM, Render L, Bell DA, Pang J, Watts GF, Bellgard MI, Burnett JR

Abstract
Rare genetic lipid disorders comprise all the monogenic disorders of lipoprotein metabolism with the exception of heterozygous familial hypercholesterolaemia (FH). The creation and maintenance of patient registries is critical for disease monitoring, improving clinical best practice, facilitating research and enabling the development of novel therapeutics, but very few disease-specific rare genetic lipid disorder registries currently exist. Our aim was to design, develop and deploy a web-based patient registry for rare genetic lipid disorders. The Rare Genetic Lipid Disorders Registry is based on the FH Australasia Network (FHAN) Registry, which has been operating since 2015. The Rare Genetic Lipid Disorders Registry was deployed utilising the open-source Rare Disease Registry Framework (RDRF), which enables the efficient customisation and sustainable deployment of web-based registries. The Registry has been designed to capture longitudinal data on 13 rare genetic lipid disorders, with the ability to add more if required in the future. Recruitment of volunteers into the Registry is currently through the Royal Perth Hospital Lipid Disorders Clinic in Western Australia. Although in essence a clinic-based patient registry, the web-based design allows for expansion and distribution across Australia and beyond. Data collated by the Registry may ultimately improve the diagnosis, management and treatment of these conditions.

PMID: 32276786 [PubMed - indexed for MEDLINE]

Biotinidase deficiency in a newborn.

J Neonatal Perinatal Med. 2020;13(1):139-141

Authors: El Moussaoui S, Bennaoui F, El Idrissi Slitine N, Houcar O, Maoulainine FMR

Abstract
INTRODUCTION: Biotinidase deficiency is an inherited disorder of biotin metabolism that is untreated may present within the first few month of life.
OBJECTIVE: We report the exceptional observation of a biotinidase deficiency in Morocco. The rarity of this pathology, its age of onset, its mode of revelation and the lack of treatment in Morocco make the particularity of this observation.
OBSERVATION: A newborn child born from a 24-year-old mother, followed by an estimated pregnancy of 37 weeks of amenorrhea according to the Farr score (morphological maturation score used for the dating of the pregnancy term). The infant presented at 7 days of life with a cutaneous-mucous eruption with icithiosic dry erythroderma of interest to the trunk, the face, the scalp associated with alopecia and depilation of the eyebrow. The biotinoidase deficiency was confirmed by its low serum concentration at 49 nka / l. The newborn died at 20 days of life before starting the specific treatment.
CONCLUSION: Biotinidase deficiency is a rare condition requiring early screening and rapid management. The delay in diagnosis and the unavailability of treatment in Morocco can have fatal consequences.

PMID: 31594257 [PubMed - indexed for MEDLINE]

Nat Commun. 2021 Feb 11;12(1):964. doi: 10.1038/s41467-020-20877-8.

ABSTRACT

Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios among 4864 GCKD study participants. Here we report the detection of 128 significant associations involving 30 unique genes, 16 of which are known to underlie inborn errors of metabolism. The 30 genes are strongly enriched for shared expression in liver and kidney (odds ratio = 65, p-FDR = 3e-7), with hepatocytes and proximal tubule cells as driving cell types. Use of UK Biobank whole-exome sequencing data links genes to diseases connected to the identified metabolites. In silico constraint-based modeling of gene knockouts in a virtual whole-body, organ-resolved metabolic human correctly predicts the observed direction of metabolite changes, highlighting the potential of linking population genetics to modeling. Our study implicates candidate variants and genes for inborn errors of metabolism.

PMID:33574263 | PMC:PMC7878905 | DOI:10.1038/s41467-020-20877-8

Science. 2021 Feb 12;371(6530):663-665. doi: 10.1126/science.371.6530.663.

NO ABSTRACT

PMID:33574194 | DOI:10.1126/science.371.6530.663

Nat Rev Dis Primers. 2021 Feb 11;7(1):11. doi: 10.1038/s41572-021-00246-5.

ABSTRACT

Penile squamous cell carcinoma (PSCC) is a rare cancer with orphan disease designation and a prevalence of 0.1-1 per 100,000 men in high-income countries, but it constitutes up to 10% of malignancies in men in some African, Asian and South American regions. Risk factors for PSCC include the absence of childhood circumcision, phimosis, chronic inflammation, poor penile hygiene, smoking, immunosuppression and infection with human papillomavirus (HPV). Several different subtypes of HPV-related and non-HPV-related penile cancers have been described, which also have different prognostic profiles. Localized disease can be effectively managed by topical therapy, surgery or radiotherapy. As PSCC is characterized by early lymphatic spread and imaging is inadequate for the detection of micrometastatic disease, correct and upfront surgical staging of the inguinal lymph nodes is crucial in disease management. Advanced stages of disease require multimodal management. Optimal sequencing of treatments and patient selection are still being investigated. Cisplatin-based chemotherapy regimens are the mainstay of systemic therapy for advanced PSCC, but they have poor and non-durable responses and high rates of toxic effects, indicating a need for the development of more effective and less toxic therapeutic options. Localized and advanced penile cancers and their treatment have profound physical and psychosexual effects on the quality of life of patients and survivors by altering sexual and urinary function and causing lymphoedema.

PMID:33574340 | DOI:10.1038/s41572-021-00246-5

NPJ Genom Med. 2020 Jul 6;5(1):29. doi: 10.1038/s41525-020-0137-0.

ABSTRACT

While genomic data is frequently collected under distinct research protocols and disparate clinical and research regimes, there is a benefit in streamlining sequencing strategies to create harmonized databases, particularly in the area of pediatric rare disease. Research hospitals seeking to implement unified genomics workflows for research and clinical practice face numerous challenges, as they need to address the unique requirements and goals of the distinct environments and many stakeholders, including clinicians, researchers and sequencing providers. Here, we present outcomes of the first phase of the Children's Rare Disease Cohorts initiative (CRDC) that was completed at Boston Children's Hospital (BCH). We have developed a broadly sharable database of 2441 exomes from 15 pediatric rare disease cohorts, with major contributions from early onset epilepsy and early onset inflammatory bowel disease. All sequencing data is integrated and combined with phenotypic and research data in a genomics learning system (GLS). Phenotypes were both manually annotated and pulled automatically from patient medical records. Deployment of a genomically-ordered relational database allowed us to provide a modular and robust platform for centralized storage and analysis of research and clinical data, currently totaling 8516 exomes and 112 genomes. The GLS integrates analytical systems, including machine learning algorithms for automated variant classification and prioritization, as well as phenotype extraction via natural language processing (NLP) of clinical notes. This GLS is extensible to additional analytic systems and growing research and clinical collections of genomic and other types of data.

PMID:33574273 | DOI:10.1038/s41525-020-0137-0

Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi.

J Pak Med Assoc. 2020 Apr;70(4):724-727

Authors: Karim K, Dileep D, Munim S

Abstract
This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from January 2016 to July 2018. All cases undergoing invasive testing by Chorionic villus sampling for indications other than Thalassemia were included. Forty percent of patients in our cohort underwent invasive testing for muscular dystrophies particularly survival motor neuron (SMN) gene deletion and 32% for Cystic Fibrosis. Other rare disorders like JAM 3 mutation, PEX 1 gene, Barters Syndrome, Wardenberg, Bardet-Beidl Syndrome and Lissencephaly accounted for 28%. Sophistication in laboratory technology and DNA banking has improved the prenatal diagnosis of rare genetic disorders particularly SMN gene deletion. Integrated care involving foetal medicine specialist, Paediatric geneticist, and dedicated Laboratory personnel improves Counseling and Diagnosis of rare genetic conditions. Provision of dedicated nursing staff along with strengthening of welfare facility for non-affording patients would improve the uptake of invasive testing.

PMID: 32296222 [PubMed - indexed for MEDLINE]

Nature. 2021 Feb;590(7845):218-219. doi: 10.1038/d41586-021-00294-7.

NO ABSTRACT

PMID:33568830 | DOI:10.1038/d41586-021-00294-7

BMJ Case Rep. 2021 Feb 10;14(2):e239981. doi: 10.1136/bcr-2020-239981.

ABSTRACT

Cocaine, an alkaloid, is an addictive drug and its abuse as a recreational drug is on the increasing side with its associated complications. Gastrointestinal complications, after cocaine abuse, are less known and need to be addressed since the abuse is on the rise and the existing evidence is scarce. We report a case of a 22-year-old male patient who presented with abdominal pain following a cocaine injection. On examination, signs of peritonitis were noted and laparotomy revealed a 2×1 cm perforation in the distal ileum. The unhealthy intestinal segment was resected and taken out as a double-barrel ileostomy. The patient had an episode of severe lower gastrointestinal bleeding on postoperative day 6. CT and colonoscopy revealed signs of ischaemic bowel and tissue biopsy showed oedematous, inflamed and haemorrhagic bowel mucosa. The patient was managed conservatively and is doing well under follow-up in a de-addiction centre.

PMID:33568413 | DOI:10.1136/bcr-2020-239981

BMJ Case Rep. 2021 Feb 10;14(2):e232266. doi: 10.1136/bcr-2019-232266.

ABSTRACT

We present a case of a 19-year-old man with right shoulder pain lasting for several months. Abdominal imaging revealed a right adrenal mass directly invading vascular structures into the right atrium. Widespread metastatic adrenocortical carcinoma was confirmed on biopsy. He opted for palliative mitotane treatment with home hospice care. This case emphasises the importance of considering abdominal masses in the differential diagnosis of persistent right shoulder pain after common causes have been ruled out. Early diagnosis could be potentially life-saving.

PMID:33568404 | DOI:10.1136/bcr-2019-232266

Ebstein's anomaly of tricuspid valve with aortic stenosis and coarctation of aorta: Successful single-stage repair of a rare adult congenital heart disease.

J Card Surg. 2020 Nov;35(11):3160-3165

Authors: Mishra AK, Barwad P, Bansal V, Mandal B, Srivastava A, Naganur SH

Abstract
Ebstein's anomaly of the tricuspid valve is infrequently associated with left heart anomalies. The association of aortic stenosis in Ebstein's anomaly has been reported to be extremely rare and the association of coarctation of aorta is even rarer especially in adults. The combination of all three of these lesions is virtually unknown without any references in literature. We report here an unusual case of Ebstein's anomaly of the tricuspid valve and severe aortic stenosis with coarctation of aorta in an adult who presented to us with exertional dyspnoea in the third decade and underwent a successful single-stage intracardiac repair.

PMID: 32939805 [PubMed - indexed for MEDLINE]