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Rare Disease Diagnostics Single Center Experience Lessons Learnt PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Rare Disease Diagnostics Single Center Experience Lessons Learnt articles that have been published worldwide.
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Adrenocortical carcinoma is a rare and heterogeneous malignancy with poor outcomes. Recent research has suggested that outcomes may be improved by centralization of care in specialist centres. We review our evolving 21-year experience in managing adrenocortical carcinoma with a view towards outcomes and lessons learnt.
Management of sexually transmitted diseases (STDs) and HIV is challenging due to the social stigma attached. We describe the development of a client-friendly STD service in a primary care clinic in Malaysia with a special focus on key populations. Challenges and key lessons learnt from its development and implementation are discussed.
Non-traumatic atlanto-axial subluxation, also known as Grisel syndrome, is a rare disease that usually affects children. The typical presentation is torticollis in patients with history of surgical operations or airway infections.
Chordomas are rare malignant tumors of the spinal column often afflicting the upper cervical spine and sacrum. There are few large single center series on chordomas due to its rarity. The purpose of this study is to report a single center's experience with the operative and non-operative management of chordomas.
Zoonotic schistosomiasis in Asia, caused by Schistosoma japonicum, remains a major public health concern in China and the Philippines. The developing epidemiological and socio-economic picture of the disease in endemic areas necessitates the development of affordable and highly accurate field diagnostics as an important component in evaluating ongoing integrated control and elimination efforts.
Primary complement deficiencies are rare diseases.
Puerto Rico suffered a major humanitarian -crisis after Hurricane Maria. We describe our experience with patients with renal disease in an academic medical center.
Endovascular repair is currently the most frequently used treatment of abdominal aortic aneurysms, but its feasibility and success highly depend on the characteristics and the correct choice of the endograft to employ. Bolton Treo is one of the most popular endograft among those of newer generation that have been launched in the past few years, and this study aims to analyze the preliminary outcomes (8 months in average) of a single-center experience with this device.
A review of our experience in creating transposed femoral vein (TFV) fistulas and some of the lessons we have learnt whilst performing this challenging procedure over the last 5 years.
Pregnancy is a potential risk factor for stroke in women with Moyamoya disease. However, rarity of the disease limits clinical expertise to ensure a healthy pregnancy. The aim of this study was to explore the landscape of the occurrence of stroke encountered in pregnant women with Moyamoya disease.
Resuscitative thoracotomy (RT) can be a lifesaving treatment, but it has not yet been performed in Korea. In this study, we review our experience of RT after a regional trauma center was constructed.
Inflammatory aortic abdominal aneurysm (IAAA) remained a rare cause of aneurysmal aortic disease with incidences between 5-10%. The current treatment of IAAA consists of open surgical repair (OSR) and endovascular aneurysm repair (EVAR). Avoiding an inflamed, fibrotic retroperitoneum is the driving force behind the desire to repair IAAA endovascularly. The latest published works confirm the promising results following EVAR for IAAA but there is still a paucity of data regarding hydroureter and hydronephrosi...
To report mid-term results after MitraClip repair, according to mitral regurgitation (MR) mechanism, in a real-world single-center experience.
Methemoglobinemia (MetHb) is a rare congenital or acquired cause of infantile cyanosis. We examined the role of MetHb in a neonatal intensive care unit (NICU).
The purpose of this study is to describe our single institutional experience of treating direct carotid-cavernous fistulas (DCCFs) with Willis covered stents (WCSs).
The St. Jude Medical Trifecta bioprosthesis is a bovine pericardial valve mounted on a titanium stent. The objective of this study was to report a single center experience with the Trifecta aortic valve.
Pancreaticoduodenectomy (PD) is a complex procedure with a morbidity rate of 40%-50%. We evaluated the incidence, associated factors, etiologic characteristics, and outcome of pyogenic liver abscess (PLA), a rare infectious complication of PD.
Comments on "Preliminary 3-Year Evaluation of Experience With SilkSurface and VelvetSurface Motiva Silicone Breast Implants: A Single-Center Experience With 5813 Consecutive Breast Augmentation Cases".
Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. The present study described clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) in one tertiary medical center.
Non-classic lobular carcinoma in situ (NC-LCIS) is a rare pre-cancer breast lesion that warrants excision to exclude invasive disease. In patients pursuing breast-conserving surgery (BCS) for NC-LCIS, the need for wide surgical margins is controversial. We characterized the outcomes of women diagnosed with NC-LCIS at a large, academic medical center.
Response to "Comments on 'Preliminary 3-Year Evaluation of Experience With SilkSurface and VelvetSurface Motiva Silicone Breast Implants: A Single-Center Experience With 5813 Consecutive Breast Augmentation Cases'".