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 2019/09/05

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 2019/09/04

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 synchronous testicular seminoma: A rare presentation of a rare disease.

Arch Ital Urol Androl. 2018 Mar 31;90(1):68-69

Authors: De Oliveira PS, De Oliveira TR, Pereira S, Martinho D, Lopes T

Abstract
OBJECTIVE: To present a case of a bilateral synchronous testicular seminoma in a young male clinical stage IIB.
MATERIAL AND METHOD: A 37 years old man presented a bilateral testicular mass with elevated tumoral markers. Histology of frozen section revealed bilateral seminoma and bilateral radical orchiectomy was performed.
RESULT: Enhanced chest and abdominopelvic staging CT scan revealed a lymphadenopathy of 30 mm within the inter-aortocava nodal chain (stage IIB). Patient received three cycles of BEP. Three months later 18F-FDG PET showed no evidence of hypermetabolic activity and serum tumoral markers were normal.
CONCLUSION: Bilateral testicular germ cell tumors are a rare disease. Management of this tumors is controversial. Bilateral radical orchiectomy is the standard of care, nevertheless, in order to preserve fertility and androgen production, an organsparing surgery can be attempted in selected cases. Although prognosis is good, with overall survival rates similar to patients with unilateral disease, life-long close follow-up may be advocated due to relapse risk.

PMID: 29633802 [PubMed - indexed for MEDLINE]

Type F Infant Botulism: Investigation of Recent Clusters and Overview of This Exceedingly Rare Disease.

Clin Infect Dis. 2017 12 27;66(suppl_1):S92-S94

Authors: Halpin AL, Khouri JM, Payne JR, Nakao JH, Cronquist A, Kalas N, Mohr M, Osborne M, O'Dell S, Luquez C, Klontz KC, Sobel J, Rao AK

Abstract
From 1976 to 2016, neurotoxigenic Clostridium baratii type F caused 18 (<0.5%) reported US infant botulism cases. Six cases occurred during 2012-2013; no common source was identified. Type F infant botulism mostly occurs in very young infants and typically presents more rapidly and severely than illness caused by types A and B botulinum neurotoxin.

PMID: 29293930 [PubMed - indexed for MEDLINE]

Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label.

J Postgrad Med. 2017 Apr-Jun;63(2):122-127

Authors: Bajaj S, Muranjan M, Karande S, Prabhat D

Abstract
Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi. Blood gas revealed hypoxemia which improved with oxygen administration. Plain X-rays and high-resolution computed tomography of the chest showed perihilar alveolar infiltrates and patchy consolidation. The clinicoradiological features did not support a diagnosis of asthma but favored interstitial lung disease (ILD). Bronchoalveolar lavage was performed as a first-tier investigation. It showed periodic acid-Schiff-negative foamy macrophages. The clues of consanguinity, visceromegaly, ILD, and foamy macrophages in the bronchoalveolar fluid prompted consideration of lysosomal storage disorders as the likely etiology. Gaucher disease and Niemann-Pick disease A/B were ruled out by enzyme estimation. Niemann-Pick disease type C was suspected and confirmed by detecting a homozygous mutation in the NPC2 gene. This case serves to caution physicians against labeling breathlessness in every toddler as asthma. It emphasizes the importance of searching for tell-tale signs such as clubbing and extrapulmonary clues which point to a systemic disease such as lysosomal storage disorders as a primary etiology of chronic respiratory symptoms.

PMID: 28272068 [PubMed - indexed for MEDLINE]

Passive force and viscoelastic properties of single fibers in human aging muscles.

Eur J Appl Physiol. 2019 Aug 29;:

Authors: Lim JY, Choi SJ, Widrick JJ, Phillips EM, Frontera WR

Abstract
PURPOSE: Changes in stiffness or extensibility of the muscle or muscle-tendon unit with aging could lead to impaired function and an increased vulnerability to injury. We aimed to investigate the passive force and viscoelastic properties of single muscle fibers in older adults.
METHODS: Seven older adults (mean age 79.0 ± 3.8 years) and 10 young control (mean age 25.6 ± 4.5 years) were recruited. Biopsy specimens were obtained percutaneously from m. vastus lateralis and skinned single fibers were used for the experiments. Slack tests were performed to determine maximal force and maximal unloaded shortening velocity. Passive force was measured in pCa 9.0 solution using a stepwise stretch technique with increment of sarcomere length from 2.4 to 4.2 µm. Myosin heavy chain (MHC) isoform was determined by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Specific force was calculated as maximal force divided by cross-sectional area. Passive force, peak passive force, time to half stress relaxation (T1/2) and force decay index (a force time integral under a stress relaxation curve) were measured.
RESULTS: No difference between the groups were found in specific force and shortening velocity. Passive force and peak passive force were greater in both MHC I and IIa fibers of older adults (p < 0.001, p = 0.012, respectively, at 4.2 mm SL). Force decay index was higher in older adults. (p = 0.001 at 4.2 µm SL). There were no significant differences in passive force and viscoelastic properties between fiber types.
CONCLUSION: We demonstrated greater passive force and viscoelastic properties at the level of single fibers in older adults.

PMID: 31468173 [PubMed - as supplied by publisher]

Solid Pseudopapillary Tumor of the Pancreas - Rare Neoplastic Disease in 20-Year-Old Woman.

Klin Onkol. Fall 2018;31(5):376-379

Authors: Jakub F, Tomáš S, Josef V, Vladislav T, Radek T, Ondřej H

Abstract
INTRODUCTION: Benign cystic tumors represent only 2% of all pancreatic tumors (pancreatic cancer - PC). In contrast to malignant cystic tumors, these tumors occur typically in young women. A solid pseudopapillary tumor is a relatively rare affliction representing less than 4% of cystic PC. Although the tumor is considered benign, metastasis, especially to the spleen, has been reported in approximately 0.5-4% patients. Despite R0 resection, vascular and perineural invasion is monitored in 20% of cases. Invasion is the cause of tumor relapse in up to one third of affected patients. Characteristic features of the disease are latent clinical indicators such as signs of pain and malfunction of intestinal passage. The diagnostics is based on MR, sometimes in combination with positron emission tomography. Medical treatment is specifically surgical.
CASE HISTORY: Authors present a case of a 20-year-old female patient who was examined due to pain in the epigastrium, further exasperated by a voluminous expansion of the abdominal cavity. An initial ultra-sonographic examination was conducted to examine for possible nodular focal nodular hyperplasia of the liver; however, an MRI scan revealed the likelihood of a malignant tumor in the subhepatic region. During laparotomy, a tumor protruding from the head of the pancreas was discovered and removed. Histological examination showed it was a solid pseudopapillary pancreatic tumor. After a month of good post-operative progress, the patient was re-operated because of the presence of pancreatic fistula. Complete healing of the fistula was achieved after total parenteral nutrition and administration of sandostatin. At her last examination, the patient was without any problems.
CONCLUSION: Solid pseudopapillary pancreatic tumors are rare, mainly benign lesions. It is essential to consider them in the differential diagnostics of afflictions of the subhepatic region, especially in young women. The only generally accepted cure nowadays is surgical resection. It is necessary to monitor patients consistently considering the rather high frequency of relapse of disease despite R0 resections. In the case of surgical removal, the 5-year survival rate is near 97%. Key words: solid pseudopapillary tumor of pancreas - diagnostics - therapy The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 17. 4. 2018 Accepted: 13. 8. 2018.

PMID: 30541325 [PubMed - indexed for MEDLINE]

Clinical Efficacy and Safety of Current Interventions for Choroidal Neovascularization Associated with Rare Diseases: A Systematic Literature Review.

Adv Ther. 2018 May;35(5):591-603

Authors: Bennett N, John L, Likhar N, Agrawal R, Amoaku WM

Abstract
INTRODUCTION: The aim of this systematic literature review was to evaluate the efficacy and safety of interventions for the treatment of choroidal neovascularization (CNV) secondary to etiologies other than age-related macular degeneration and pathologic myopia.
METHODS: Relevant randomized controlled trials (RCTs) and prospective observational studies were identified by searching MEDLINE, MEDLINE In-Process, EMBASE, and CENTRAL.
RESULTS: The search identified 5 RCTs; no relevant observational studies were identified. The studies differed in terms of underlying cause of CNV, patient numbers (n = 9-178), follow-up time (2-36 months) and quality assessment. In the largest RCT (n = 178 across a range of rare CNV etiologies), intravitreal ranibizumab showed superior efficacy versus sham from baseline to month 2 [mean best-corrected visual acuity (BCVA): + 9.5 vs. - 0.4 letters; p < 0.001]; the gain was maintained up to month 12. In the treatment of CNV secondary to presumed ocular histoplasmosis syndrome (POHS), both intravitreal ranibizumab and photodynamic therapy (PDT) showed significant improvement from baseline BCVA over the 12-month period (n = 9); however, all patients in the PDT group required rescue ranibizumab therapy. Unlicensed intravitreal bevacizumab was associated with a statistically significant improvement in BCVA compared to PDT at 12 months (p < 0.001) in patients with CNV secondary to multifocal choroiditis (n = 27). The use of steroids before PDT showed better BCVA outcomes than PDT alone (p < 0.05) in patients with idiopathic CNV (n = 20). Argon green laser therapy showed limited efficacy in patients with CNV secondary to OHS (n = 134).
CONCLUSION: There is evidence from a relatively large, good-quality study to support the use of intravitreal ranibizumab for the treatment of CNV secondary to rare diseases. However, the limited number of RCTs for this indication and differences in study characteristics between RCTs mean that there is uncertainty regarding comparative clinical effectiveness of interventions. RCTs with an active comparator are required to fully establish the comparative effectiveness of treatments for CNV secondary to rare diseases.
FUNDING: Novartis Pharmaceuticals UK Ltd, Surrey, UK.

PMID: 29687336 [PubMed - indexed for MEDLINE]

Therapeutic strategies for glucose transporter 1 deficiency syndrome.

Ann Clin Transl Neurol. 2019 Aug 28;:

Authors: Tang M, Park SH, De Vivo DC, Monani UR

Abstract
Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, glucose. Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein stemming from mutations in the associated SLC2A1 gene deprives the brain of glucose and triggers the infantile-onset neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). Considering the monogenic nature of Glut1 DS, the disease is relatively straightforward to model and thus study. Accordingly, Glut1 DS serves as a convenient paradigm to investigate the more general cellular and molecular consequences of brain energy failure. Here, we review how Glut1 DS models have informed the biology of a prototypical brain energy failure syndrome, how these models are facilitating the development of promising new treatments for the human disease, and how important insights might emerge from the study of Glut1 DS to illuminate the myriad conditions involving the Glut1 protein.

PMID: 31464092 [PubMed - as supplied by publisher]

Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project.

Eur J Med Genet. 2019 May;62(5):335-341

Authors: Dheensa S, Lucassen A, Fenwick A

Abstract
In this paper, we present findings from a project involving 20 patients with rare diseases, or parents thereof, participating in the 100,000 genomes project (100 kG P). We explored their experiences of, and views about, the project, including why they took part, and their hopes and concerns about the future of genomic medicine. Patients who attended genetic clinics for testing were offered the opportunity to undergo the more extensive whole genome sequencing (WGS) if they agreed to take part in the 100 kG P. Once people had agreed, a specific additional appointment was organised for them. Taking part in the project therefore involved additional travel and appointments ('clinical labour'). We found that interviewees' decisions to participate in 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relationships with NHS healthcare professionals would be like in future. A few participants worried about whether Genomics England's biorepository would remain protected and an asset of the NHS. To honour and foster participants' trust - which may easily be lost - and their clinical labour, we therefore recommend ongoing public engagement and consultation about how genomics is being integrated more widely across specialties (especially given current funding and staffing constraints in the NHS) within the newly formed NHS Genomic Medicine Service.

PMID: 30503854 [PubMed - indexed for MEDLINE]

Multimodality Imaging of a Rare Atrioventricular Nodal Tumor.

Circ Cardiovasc Imaging. 2018 10;11(10):e008159

Authors: Fiset S, Butany J, Ing DJ, Cusimano RJ, Nguyen ET

PMID: 30354481 [PubMed - indexed for MEDLINE]

Xanthogranulomatous pyelonephritis in a paediatric cohort (1963-2016): Outcomes from a large single-center series.

J Pediatr Urol. 2018 04;14(2):169.e1-169.e7

Authors: Stoica I, O'Kelly F, McDermott MB, Quinn FMJ

Abstract
BACKGROUND: Xanthogranulomatous pyelonephritis (XGP) is an uncommon chronic destructive granulomatous inflammation of the kidney. It was first described in 1916, and is thought to affect 6/1000 cases of pyelonephritis. Its manifestations are varied, and with a limited number of cases in the literature, the optimal diagnosis and management of XGP in the paediatric cohort is still unknown.
MATERIAL AND METHODS: The medical records of children who were diagnosed and treated for XGP at the current unit during the period 1963-2016, inclusive, were retrospectively reviewed. Information pertaining to each patient was recorded, including: demographic data, past medical history, clinical and biochemical characteristics, diagnostic procedures, treatment methods, histopathologic diagnosis of the removed specimen, and outcome.
RESULTS: A total of 66 children with a median age of 4.84 years (range 1.1-14.81), with an M:F ratio 1.35:1 underwent nephrectomy for XGP and had a median follow-up of 7.19 years (range 0.11-17.45). The most common presentations were systemic illness (62.1%), pain (60.6%), urinary tract infections (54.5%) and an abdominal mass (39.4%); pyrexia was present in 53%. Biochemical abnormalities included anaemia (86.3%), thrombocytosis (80.3%) and hypomagnesemia (65.1%). There was an 83.3% concordance between intraoperative cultures and positive mid-stream urines. Index kidneys were significantly larger than the contralateral side (mean 1.32 cm; P = 0.002). Staging of XGP demonstrated extension beyond the kidney in 79% of kidneys. Computed tomography (CT) was performed in 11 cases (Summary figure). Dimercaptosuccinic acid (DMSA) scan showed 0-10% function in 90.47% of cases. Surgical procedures included nephrectomy (n = 63) and partial nephrectomy (n = 3). Perioperative complications included colonic resections (n = 5) and abscess formation in 18%.
CONCLUSIONS: This is the largest series to date of XGP in a paediatric cohort. XGP should be included in the differential diagnosis of all children presenting with perirenal or psoas abscesses, renal masses and/or non-functioning kidneys with/or without associated urolithiasis. Clinical awareness and a high index of suspicion is required to achieve the correct pre-operative diagnosis and appropriate management.

PMID: 29233628 [PubMed - indexed for MEDLINE]

A Rare Complication of Oropharyngeal Tularemia: Dacryocystitis

Turk J Ophthalmol. 2019 06 27;49(3):164-167

Authors: Köse HC, Hoşal MB

Abstract
Tularemia is a zoonotic disease caused by Francisella tularensis, a highly virulent gram-negative coccobacillus. Oropharyngeal tularemia, one of the clinical subtypes, is the most common clinical form of the disease in Eastern Europe, including Turkey. This clinical form affects mostly the head and neck region and the most common complaints of patients are mass in the neck, sore throat, and fever. This form of tularemia may be confused with tonsillitis, pharyngitis, or cervical lymphadenitis caused by other microbial agents due to the nonspecific clinical and laboratory features. In this study, we present a patient with nasolacrimal duct obstruction and dacryocystitis caused by oropharyngeal tularemia.

PMID: 31245979 [PubMed - indexed for MEDLINE]

Endometriosis With Cystic Degeneration: A Rare Disease of Males.

Int J Surg Pathol. 2019 May;27(3):311-314

Authors: Al-Obaidy KI, Idrees MT

Abstract
Endometriosis in men is extremely rare with only a few cases reported in the English literature. Different theories have been proposed as to its origin. In this article, we describe the clinicopathologic features of 2 cases of endometriosis occurring in male patients. The patients' ages were 50 and 43 years, and sizes were 2 and 5.2 cm, respectively. No significant chemical or hormonal exposure was identified. Both patients presented with a testicular mass. Grossly, both lesions were cystic and contained hemorrhagic fluid. Microscopic examination revealed cysts and occasional glands lined by low columnar to cuboidal epithelium, surrounded by spindle cell stroma with abundant hemosiderin-laden macrophages reminiscent of endometrium. One case was predominantly intratesticular, with a minute focus of endometrial-type glands and spindled stroma within the tunica vaginalis. Focal chronic inflammation and epithelial denudation were present in both cases. The surrounding testicular and epididymal structures adjacent to the cystic mass were unremarkable. In summary, endometriosis is an extremely rare lesion in men. The presence of these lesions in both cases along the route of the Müllerian duct supports the theory that these lesions arise from embryonic remnants. Awareness of this entity is crucial for general pathologists to avoid wrong diagnosis and unnecessary management.

PMID: 30178697 [PubMed - indexed for MEDLINE]

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 2019/08/28

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 2019/08/27

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.

Rare primary headaches in Italian tertiary Headache Centres: Three year nationwide retrospective data from the RegistRare Network.

Cephalalgia. 2018 07;38(8):1429-1441

Authors: Lupi C, Evangelista L, Favoni V, Granato A, Negro A, Pellesi L, Ornello R, Russo A, Cevoli S, Guerzoni S, Benemei S

Abstract
Background Rare primary headaches are mainly included in Chapters 3, Trigeminal autonomic cephalalgias, and 4, Other primary headache disorders, Part One of the International Classification of Headache Disorders 3rd edition. Epidemiological data are scarce, mostly emerging from case series or small studies, with the exception of cluster headache. In order to overcome the knowledge gap about rare primary headaches, the RegistRare Network was launched in 2017 to promote research in the field. Methods A retrospective cohort study including patients who, from April 30, 2014 to May 1, 2017, visited seven Italian tertiary Headache Centres, was undertaken to estimate in that clinical setting prevalence and incidence of headaches included in Chapters 3 and 4, Part One of the International Classification of Headache Disorders 3rd edition. Prevalent headache is defined as a headache recorded within the study timeframe, regardless of when the diagnosis was made. Incident headache is defined as a headache diagnosed for the first time in the patient during the study period. Results Twenty thousand and eighty-three patients visited the participating centres, and 822 (4.1%) prevalent cases, of which 461 (2.3%) were incident cases, were registered. Headaches listed in Chapter 3 affected 668 patients, representing 81.3% of the total number of prevalent cases. Headaches listed in Chapter 4 affected 154 patients and represent 18.7% of the total number of prevalent cases. Cluster headaches represent the most frequently diagnosed rare headaches (70.4%). For 13 entities out of 20, no cases were registered in more than 50% (n ≥ 4) of the centres, and for 14 entities more than 50% of diagnoses were incident. Conclusions This large, multicentre study gives the first wide-ranging snapshot of the burden in clinical practice of rare headaches and confirms that cooperative networks are necessary to study rare headaches, as their prevalence is often very low. The launch of a disease registry by the RegistRare Network will favour research in this neglected population of headache patients. Trial registration NCT03416114.

PMID: 29754500 [PubMed - indexed for MEDLINE]

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.

Cephalalgia. 2018 07;38(8):1503-1508

Authors: Schubert V, Auffenberg E, Biskup S, Jurkat-Rott K, Freilinger T

Abstract
Background Familial hemiplegic migraine type 3 is a monogenic subtype of migraine caused by missense mutations in the neuronal voltage-gated sodium channel gene SCN1A, with 10 different mutations reported so far. In two familial hemiplegic migraine type 3 families, partial cosegregation with a rare eye phenotype (elicited repetitive daily blindness) was previously reported. Methods Two novel familial hemiplegic migraine pedigrees were subjected to genetic analysis and detailed work-up of associated clinical features. Results In both pedigrees, we identified SCN1A mutation p.F1499L, which has been previously associated with familial hemiplegic migraine type 3 and elicited repetitive daily blindness. Both families displayed a pure familial hemiplegic migraine phenotype without evidence of an episodic eye phenotype. Conclusion Like a substantial proportion of other familial hemiplegic migraine type 3 mutations, p.F1499L affects the intracellular linker between domains III and IV of SCN1A, which seems to be a mutational hot-spot. Our new data establish p.F1499L as a recurrent familial hemiplegic migraine type 3 mutation. Elicited repetitive daily blindness seems to be a rare phenomenon in familial hemiplegic migraine type 3, even in carriers of the same mutation.

PMID: 29145747 [PubMed - indexed for MEDLINE]

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 2019/08/23

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 2019/08/23

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.