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 2019/08/22

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.

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 2019/08/21

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.

10 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 2019/08/20

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.

Harnessing the power of the patient perspective for rare disease therapeutics.

Neurology. 2018 09 25;91(13):585-586

Authors: Swoboda KJ, Nery FC

PMID: 30143562 [PubMed - indexed for MEDLINE]

Orchidopexy in children with Prader-Willi syndrome: Results of a long-term follow-up study.

J Pediatr Urol. 2018 02;14(1):63.e1-63.e6

Authors: Pacilli M, Heloury Y, O'Brien M, Lionti T, Rowell M, Hutson J

Abstract
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children.
STUDY DESIGN: A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range).
RESULTS: Thirty-three children (1-17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5-5.5). Age at FU was 7.2 years (1.7-17). Length of follow-up is 3.5 years (0.4-14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy.
CONCLUSIONS: This study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.

PMID: 29102298 [PubMed - indexed for MEDLINE]

Large Submitral Aneurysm Compressing Left Main Coronary Artery: Rare Presentation of a Rare Disease.

J Assoc Physicians India. 2018 Jul;66(7):90-91

Authors: Kumar P, Jana S, Kenchappa K, Manik G

Abstract
Submitral left ventricular aneurysm is a rare cardiac anomaly that was first reported from African countries and initially termed as "annular left ventricular aneurysm". Submitral aneurysm (SMA) causes out-pouching of the left ventricular wall, adjacent to the posterior leaflet of the mitral valve. Generally, SMA opens into left ventricle (LV) with a wide mouth and not into left atrium (LA). We report a case of Submitral Aneurysm with two openings: one into LV and the other into LA. This case also highlights the compression of coronary arteries by the submitral aneurysm. Large SMA can cause compression of left main coronary artery rarely. Having a knowledge of this point can help the clinician. SMA generally have an opening in LV but in this case SMA has two openings (One in LV and another in LA). This knowledge can help in proper surgical management.

PMID: 31325275 [PubMed - indexed for MEDLINE]

[Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital].

An Pediatr (Barc). 2019 Jan;90(1):42-50

Authors: Tejada-Ortigosa EM, Flores-Rojas K, Moreno-Quintana L, Muñoz-Villanueva MC, Pérez-Navero JL, Gil-Campos M

Abstract
INTRODUCTION: Rare diseases are a challenge for public health due to the lack of information on their magnitude. These include inborn errors of metabolism. The objective of this study was to assess the quality of life and social, health, economic, and educational needs of a group of paediatric patients with inborn errors of metabolism attended to in a hospital.
MATERIAL AND METHOD: A questionnaire was developed based on the needs and expectations, based mainly on the Andalusian Plan for Rare Diseases. An analysis was performed on the variables of health, socioeconomic, and educational needs of 65 paediatric patients with inborn errors of metabolism.
RESULTS: The respondents showed few possibilities to cope with medication (61%), special diet (86%), and other health benefits (79%). Just under half of them (43%) believed that the quality of family life had been greatly reduced since the onset of the disease. The main caregiver was the mother in 61.5% of cases, compared to 1.5% of cases in which it was the father. The primary caregivers had to reduce their working hours or give up their job in 77% of cases.
CONCLUSIONS: The multidisciplinary treatment is affected by the inability of families to cope with a high cost, as well as with difficult access to these resources. In addition, there is great impact on the quality of life of patients, and their caregivers. Therefore, there is a need to evaluate the results of government health and socio-economic support plans for patients with rare diseases, and make a real response to their needs.

PMID: 29853433 [PubMed - indexed for MEDLINE]

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

Am J Kidney Dis. 2018 05;71(5):754-757

Authors: Lemoine S, Panaye M, Rabeyrin M, Errazuriz-Cerda E, Mousson de Camaret B, Petiot P, Juillard L, Guebre-Egziabher F

Abstract
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications. Mutations in the MT-ATP6 gene of mtDNA have been shown to cause NARP syndrome without renal involvement. We report a patient who had NARP syndrome diagnosed at age 11 years in whom glomerular proteinuria was present very early after diagnosis. Although neurologic manifestations were stable over time, he developed worsening proteinuria and kidney function. He started dialysis therapy at age 21 years. Kidney biopsy confirmed the mitochondrial cytopathy histologically, with abnormal mitochondria seen on electron microscopy. The MT-ATP6 gene mutation was detected in the kidney biopsy specimen.

PMID: 29224958 [PubMed - indexed for MEDLINE]

The Orphan Drug Act Revisited.

JAMA. 2019 Mar 05;321(9):833-834

Authors: Thomas S, Caplan A

PMID: 30768155 [PubMed - indexed for MEDLINE]

19 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 2019/08/14

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.

Infant mortality: the contribution of genetic disorders.

J Perinatol. 2019 Aug 08;:

Authors: Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB

Abstract
OBJECTIVE: To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder.
STUDY DESIGN: A retrospective analysis of the electronic medical records of infants born from 1 January, 2011 to 1 June, 2017, who died prior to 1 year of age.
RESULTS: Five hundred and seventy three deceased infants were identified. One hundred and seventeen were confirmed to have a molecular or cytogenetic diagnosis in a clinical diagnostic laboratory and an additional seven were diagnosed by research testing for a total of 124/573 (22%) diagnosed infants. A total of 67/124 (54%) had chromosomal disorders and 58/124 (47%) had single gene disorders (one infant had both). The proportion of diagnoses made by sequencing technologies, such as exome sequencing, increased over the years.
CONCLUSIONS: The prevalence of confirmed genetic disorders within our cohort of infant deaths is higher than that previously reported. Increased efforts are needed to further understand the mortality burden of genetic disorders in infancy.

PMID: 31395954 [PubMed - as supplied by publisher]

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

JIMD Rep. 2019 Jul;48(1):26-35

Authors: Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT

Abstract
Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency with low activated (+dichloroacetate) and inactivated (+fluoride) PDC activities in lymphocytes and fibroblasts, normal activity of other mitochondrial enzymes in fibroblasts, and novel biallelic frameshift mutation in the PDP1 gene, c.575dupT (p.L192FfsX5), with absent PDP1 product in fibroblasts. Unexpectedly, the patient also had low branched-chain 2-ketoacid dehydrogenase (BCKDH) activity in fibroblasts with slight elevation of branched-chain amino acids in plasma and ketoacids in urine but with no pathogenic mutations in the enzymes of BCKDH, which could suggest shared regulatory function of PDC and BCKDH in fibroblasts, potentially in other tissues or cell types as well, but this remains to be determined. The clinical presentation of this patient overlaps that of other patients with primary-specific PDC deficiency, with neonatal/infantile and childhood lactic acidosis, normal lactate to pyruvate ratio, elevated plasma alanine, delayed psychomotor development, epileptic encephalopathy, feeding difficulties, and hypotonia. This patient exhibited marked improvement of overall development following initiation of ketogenic diet at 31 months of age. To the best of our knowledge, this is the fourth case of functional PDC deficiency with a defined mutation in PDP1.
Synopsis: Pyruvate dehydrogenase phosphatase (PDP) regulates pyruvate dehydrogenase complex (PDC) and defective PDP due to PDP1 mutations leads to PDC deficiency and congenital lactic acidosis.

PMID: 31392110 [PubMed]

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Mol Diagn Ther. 2019 04;23(2):201-222

Authors: Papasavva P, Kleanthous M, Lederer CW

Abstract
Rare diseases pose a global challenge, in that their collective impact on health systems is considerable, whereas their individually rare occurrence impedes research and development of efficient therapies. In consequence, patients and their families are often unable to find an expert for their affliction, let alone a cure. The tide is turning as pharmaceutical companies embrace gene therapy development and as serviceable tools for the repair of primary mutations separate the ability to create cures from underlying disease expertise. Whereas gene therapy by gene addition took decades to reach the clinic by incremental disease-specific refinements of vectors and methods, gene therapy by genome editing in its basic form merely requires certainty about the causative mutation. Suddenly we move from concept to trial in 3 years instead of 30: therapy development in the fast lane, with all the positive and negative implications of the phrase. Since their first application to eukaryotic cells in 2013, the proliferation and refinement in particular of tools based on clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) prokaryotic RNA-guided nucleases has prompted a landslide of therapy-development studies for rare diseases. An estimated thousands of orphan diseases are up for adoption, and legislative, entrepreneurial, and research initiatives may finally conspire to find many of them a good home. Here we summarize the most significant recent achievements and remaining hurdles in the application of CRISPR/Cas technology to rare diseases and take a glimpse at the exciting road ahead.

PMID: 30945166 [PubMed - indexed for MEDLINE]

MicroRNAs and Long Non-coding RNAs in Genetic Diseases.

Mol Diagn Ther. 2019 04;23(2):155-171

Authors: Finotti A, Fabbri E, Lampronti I, Gasparello J, Borgatti M, Gambari R

Abstract
Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation of gene expression and onset of human diseases, including rare genetic diseases; therefore they are suitable targets for therapeutic intervention. This issue, in the context of rare genetic diseases, is being considered by an increasing number of research groups and is of key interest to the health community. In the case of rare genetic diseases, the possibility of developing personalized therapy in precision medicine has attracted the attention of researchers and clinicians involved in developing "orphan medicinal products" and proposing these to the European Medicines Agency (EMA) and to the Food and Drug Administration (FDA) Office of Orphan Products Development (OOPD) in the United States. The major focuses of these activities are the evaluation and development of products (drugs, biologics, devices, or medical foods) considered to be promising for diagnosis and/or treatment of rare diseases or conditions, including rare genetic diseases. In an increasing number of rare genetic diseases, analysis of microRNAs and long non-coding RNAs has been proven a promising strategy. These diseases include, but are not limited to, Duchenne muscular dystrophy, cystic fibrosis, Rett syndrome, and β-thalassemia. In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases.

PMID: 30610665 [PubMed - indexed for MEDLINE]

A young child with persistent respiratory symptoms: Think beyond asthma.

J Postgrad Med. 2017 Apr-Jun;63(2):81-83

Authors: Kabra SK, Kumar A

PMID: 28397738 [PubMed - indexed for MEDLINE]

Follistatin-based ligand trap ACE-083 induces localized hypertrophy of skeletal muscle with functional improvement in models of neuromuscular disease.

Sci Rep. 2019 Aug 06;9(1):11392

Authors: Pearsall RS, Davies MV, Cannell M, Li J, Widrick J, Mulivor AW, Wallner S, Troy ME, Spaits M, Liharska K, Sako D, Castonguay R, Keates S, Grinberg AV, Suragani RNVS, Kumar R

Abstract
Skeletal muscle is under inhibitory homeostatic regulation by multiple ligands of the transforming growth factor-β (TGFβ) superfamily. Follistatin is a secreted protein that promotes muscle growth and function by sequestering these ligands extracellularly. In the present study, we evaluated the potential of ACE-083 - a locally acting, follistatin-based fusion protein - as a novel therapeutic agent for focal or asymmetric myopathies. Characterization of ACE-083 in vitro revealed its high affinity for heparin and extracellular matrix while surface plasmon resonance and cell-based assays confirmed that ACE-083 binds and potently neutralizes myostatin, activin A, activin B and growth differentiation factor 11 (GDF11). Intramuscular administration of ACE-083 caused localized, dose-dependent hypertrophy of the injected muscle in wild-type mice and mouse models of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystrophy, with no evidence of systemic muscle effects or endocrine perturbation. Importantly, ACE-083 also increased the force of isometric contraction in situ by the injected tibialis anterior muscle in wild-type mice and disease models and increased ankle dorsiflexion torque in CMT mice. Our results demonstrate the potential of ACE-083 as a therapeutic agent for patients with CMT, muscular dystrophy and other disorders with focal or asymmetric muscle atrophy or weakness.

PMID: 31388039 [PubMed - in process]

Rapidly Progressive Malignant Fibrous Histiocytoma of Right Atrium: a Rare Case Report.

Braz J Cardiovasc Surg. 2019 06 01;34(3):372-376

Authors: Aksu T, Gode S, Oz K, Ersoy B, Ustunısık CT, Guner Y, Atay OF, Erentug V

Abstract
We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor mass. His clinical status has worsened, with syncope and acute renal failure. On the repeated echocardiography, suspected tumor recurrence was observed in left atrium, which probably caused systemic embolization. Considering the aggressive nature of the tumor and systemic involvement, our Heart Council decided to provide palliative treatment by nonsurgical management. His status deteriorated for the next few days and the patient succumbed to a cardiac arrest on the 4th day.

PMID: 31310479 [PubMed - indexed for MEDLINE]

Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.

Iran J Kidney Dis. 2019 Jan;13(1):67-70

Authors: Sürmeli Döven S, Delibas A, Türsen Ü, Ezgü FS

Abstract
Multicystic dysplastic kidney is a congenital kidney malformation consisting of multiple cysts of various sizes without a normal kidney morphology. Incontinentia pigmenti is a rare X-linked dominant genodermatosis, which is usually lethal in males, that presents clinically in 4 stages. Here, we report a case of multicystic dysplastic kidney with ureterovesical junction obstruction and incontinentia pigmenti. Coexistence of these two rare diseases may be a coincidental phenomenon or an association between the two may exist.

PMID: 30851721 [PubMed - indexed for MEDLINE]

Endoscopic ultrasound through-the-needle biopsy diagnosis of a pancreatic lymphoepithelial cyst.

Dig Endosc. 2019 Mar;31(2):210

Authors: Barresi L, Tacelli M, Traina M

PMID: 30633828 [PubMed - indexed for MEDLINE]

The prevalence of rare diseases in psychiatry.

Lancet Psychiatry. 2018 09;5(9):693-694

Authors: Bergink V

PMID: 29779952 [PubMed - indexed for MEDLINE]