Surgical Repair of Complex Aortopulmonary Window: A Case Study.

Braz J Cardiovasc Surg. 2018 Jul-Aug;33(4):424-427

Authors: He J, Yan D, Li B, Li H

Abstract
Aortopulmonary septal defect, also known as the aortopulmonary window, is a rare congenital macrovascular malformation. This case involves a 9-year-old boy with aortopulmonary septal defect (type I combined with type IV). Before surgery, milrinone and alprostadil were used to counteract high lung pressure. Surgery was performed under cardiopulmonary bypass, following which the pulmonary pressure decreased. The aorta was cut, and the right pulmonary artery opening was connected with the main pulmonary artery septal defect using polyester patch. An internal tunnel was made, and the deformity correction was completed. The child exhibited normal postoperative recovery with no discomfort. A complex aortopulmonary window is a rare condition that can be treated successfully with appropriate preoperative and surgical management.

PMID: 30184041 [PubMed - indexed for MEDLINE]

Three-dimensional Speckle Tracking Echocardiography in Amyloidosis: A New Assessment Method for a Rare Disease.

Arq Bras Cardiol. 2018 09;111(3):392-393

Authors: Markman Filho B

PMID: 30379257 [PubMed - indexed for MEDLINE]

Simultaneous 18F-FDG PET/MRI Assists Diagnosis of a Rare Disease, MELAS.

Clin Nucl Med. 2019 Jan;44(1):81-82

Authors: Liu F, Ruan W, Wang Y, Lan X

Abstract
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a rare congenital mitochondrial DNA mutation disease. Here, we report a 4-year-old girl, who presented with short stature, mental retardation, and recurrent seizures, underwent simultaneous F-FDG PET/MRI examination. An interesting contradiction images were found on bilateral frontal, left temporal, occipital, and parietal lobes, which were with high blood flow shown on 3D-ASL perfusion images, but low uptake of F-FDG on PET images. The contradiction of high blood flow and low glucose metabolism gave us a clue to make the diagnosis of MELAS. The final diagnosis was MELAS confirmed by genetic testing.

PMID: 30371584 [PubMed - indexed for MEDLINE]

Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.

Mol Genet Metab. 2018 02;123(2):69-75

Authors: Sampayo-Cordero M, Miguel-Huguet B, Pardo-Mateos A, Moltó-Abad M, Muñoz-Delgado C, Pérez-López J

Abstract
BACKGROUND: Case reports might have a prominent role in the rare diseases field, due to the small number of patients affected by one such disease. A previous systematic review regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I (MPS-I) who initiated enzyme replacement therapy (ERT) in adult age has been published. The review included a meta-analysis of 19 clinical studies and the description of eleven case reports. It was of interest to perform a meta-analysis of those case reports to explore the role of such meta-analyses as a tool for evidence-based medicine in rare diseases.
METHODS: The study included all case reports with standard treatment regimen. Primary analysis was the percentage of case reports showing an improvement in a specific outcome. Only when that percentage was statistically higher than 5%, the improvement was confirmed as such. The outcomes that accomplished this criterion were ranked and compared to the GRADE criteria obtained by those same outcomes in the previous meta-analysis of clinical studies.
RESULTS: There were three outcomes that had a significant improvement: Urine glycosaminoglycans, liver volume and 6-minute walking test. Positive and negative predictive values, sensitivity and specificity for the results of the meta-analysis of case reports as compared to that of clinical studies were 100%, 88.9%, 75% and 100%, respectively. Accordingly, absolute (Rho=0.82, 95%CI: 0.47 to 0.95) and relative agreement (Kappa=0.79, 95%CI: 0.593 to 0.99) between the number of case reports with improvement in a specific outcome and the GRADE evidence score for that outcome were good. Sensitivity analysis showed that agreement between the meta-analysis of case reports and that of the clinical studies were good only when using a strong confirmatory strategy for outcome improvement in case reports.
CONCLUSIONS: We found an agreement between the results of meta-analyses from case reports and from clinical studies in the efficacy of laronidase therapy in patients with MPS-I who initiated ERT in adult age. This agreement suggests that combining case reports quantitatively, rather than analyzing them separately or qualitatively, may improve conclusions in the field of rare diseases.

PMID: 29336994 [PubMed - indexed for MEDLINE]

Actinomycosis: An infrequent disease in renal transplant recipients?

Transpl Infect Dis. 2018 Dec;20(6):e12970

Authors: Rousseau C, Piroth L, Pernin V, Cassuto E, Etienne I, Jeribi A, Kamar N, Pouteil-Noble C, Mousson C

Abstract
Actinomycosis is a rare and heterogeneous infection involving Gram-positive anaerobic bacteria, which are commensals in the oral cavity and digestive tract. Only four cases of actinomycosis in renal transplant recipients have been reported to date. We performed a retrospective study in French renal transplantation centers to collect data about actinomycosis, patients, and transplantation. Seven cases were reported between 2000 and 2017; mean age was 55.7 years, and prevalence of actinomycosis was 0.02%. Median time between transplantation and infection was 104 months (4-204 months). Locations of actinomycosis were cervicofacial (n = 2), pulmonary (n = 2), abdominopelvic (n = 2), or cutaneous (n = 1). Two patients (28.5%) had acute kidney injury. Diagnosis was made possible by microbiology (71%) or histopathology (filaments and sulfur granules) (14%) of the infection site. The suspected gate of entry for the infection was dental (57%), abdominal (28.5%) or through the sinuses (14%). All patients were treated with amoxicillin for 30-200 days (median duration of 115 days), and clavulanic acid was added for 28.5% of cases. Three patients (43%) required surgery. All patients, except one, recovered completely after a few months. Actinomycosis is a rare, slow, progressive disease in French renal transplant recipients. The location and clinical features of this infection are miscellaneous. Global and renal outcomes do not seem to be affected by actinomycosis.

PMID: 30055044 [PubMed - indexed for MEDLINE]

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.

PLoS One. 2018;13(6):e0199052

Authors: Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, Lima DN, de Melo Campos JTA, Ferreira LC, Freire Neto FP, Mendes-Aguiar CO, Jeronimo SMB

Abstract
INTRODUCTION: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL.
METHOD: We analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017. If the death certificate was incomplete or unavailable, we reviewed the medical records, and if they were not available too, we collected information from the patient's relatives to understand how the death happened. We calculated the potential years of life lost as a result of premature death.
RESULTS: Twenty patients (12 female and 8 male) died between 1997 and 2017. The mean age at the time of death was 27.1±12.4 years (women 25.2±12.5 vs. men 29.9±12.6 years, p = 0.41). Life expectancy for the study population was 62.9±4.8 years. The potential number of years of life lost was 35.6±16.6 years. The causes of deaths were divided into three major groups: infections (7 patients, 35%), liver disease (7 patients, 35%), and other causes (acute pancreatitis, one patient; renal failure, three patients; sudden death/myocardial infarction, two patients). Three patients had pulmonary fibrosis.
CONCLUSION: BSCL led to premature death, cutting the patients' lifespan by 30 or more years. The majority of these young patients died of liver disease or infection. Other studies are needed to understand better the mechanisms that predispose to infections, as well as to assess whether new therapies can alter the natural history of this disease.

PMID: 29883474 [PubMed - indexed for MEDLINE]

Angioedema Caused by Rivastigmine Patch: A Rare Case.

J Clin Psychopharmacol. 2018 06;38(3):281-282

Authors: Naharci MI, Tasci I

PMID: 29620690 [PubMed - indexed for MEDLINE]

Oesophageal duplication cyst mimicking cardiac mass.

Eur Heart J Cardiovasc Imaging. 2018 04 01;19(4):469

Authors: Ali Z, Jain R, Sawlani R, Tajik AJ

PMID: 29342265 [PubMed - indexed for MEDLINE]

Cardiac varix: a rare tumour of the interatrial septum.

Eur Heart J Cardiovasc Imaging. 2018 04 01;19(4):470

Authors: Schenone AL, Tan C, Johnston D, Thamilarasan M, Jaber W

PMID: 29309543 [PubMed - indexed for MEDLINE]

A mysterious cause of constrictive pericarditis: unfolding of the missing link.

Eur Heart J Cardiovasc Imaging. 2018 04 01;19(4):474

Authors: Arasaratnam P, Kojodjojo P, Sorokin V

PMID: 29293944 [PubMed - indexed for MEDLINE]

A rare sonographic finding for suprascapular nerve entrapment: engorged suprascapular artery not vein.

Med Ultrason. 2018 Aug 30;20(3):400-401

Authors: Wu WT, Chang KV, Özçakar L, Martinoli C

Abstract
.

PMID: 30167598 [PubMed - indexed for MEDLINE]

A will and a way to fund medicines for rare diseases: the story of human growth hormone replacement for adults with growth hormone deficiency.

Intern Med J. 2018 08;48(8):999-1002

Authors: Lipworth W, Ambler G, Burt MG, Fairchild J, Inder WJ, Werther G, Ho K

Abstract
Growth hormone (GH) replacement therapy was recently recommended by the Pharmaceutical Benefits Advisory Committee (PBAC) for listing on the Pharmaceutical Benefits Scheme for adults with severe GH deficiency and impaired quality of life. This approval was significant for two reasons. First, the application was initiated and coordinated by a health professional working group, who prepared a 'public interest' submission to PBAC. Second, it resulted in a recommendation to subsidise therapy for a rare disease after two prior rejections on the basis of uncertainty about efficacy and cost effectiveness. There are important lessons to learn about the power of professional groups to drive health policy and attain funding for rare diseases.

PMID: 30133980 [PubMed - indexed for MEDLINE]

Common symptoms for a rare disease in a girl with sarcoidosis: a case report.

Ital J Pediatr. 2018 Jun 28;44(1):74

Authors: Giovannini M, Luzzati M, Ferrara G, Buccoliero AM, Simonini G, de Martino M, Cimaz R, Giani T

Abstract
BACKGROUND: Sarcoidosis in pediatric age is uncommon and challenging diagnosis, because manifestations can be significantly variable and non-specific since it is a multisystem disease, and virtually any organ system may be involved.
CASE PRESENTATION: In this report, we describe the case of a 12-year-old girl presenting with fatigue and weight loss, with a painless hepato-splenomegaly without additional clinical signs on physical examination. In our patient, once we had ruled out infections, malignancies and granulomatous diseases of childhood, we made diagnosis of sarcoidosis, finding suggestive histological features in two different tissues (liver and lymph nodes) with lung involvement.
CONCLUSIONS: Our case points out that pediatricians should consider sarcoidosis in the differential diagnosis in case of systemic symptoms, even in absence of other specific clinical clues, because they represent the most common clinical manifestations on presentation in children, in order to refer promptly the young patient to specialist evaluation.

PMID: 29954416 [PubMed - indexed for MEDLINE]

A rare case of bilateral ocular neuromyotonia.

Can J Ophthalmol. 2018 02;53(1):e4-e6

Authors: Ali ZC, Usmani HA, Ansons A

PMID: 29426461 [PubMed - indexed for MEDLINE]

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