Rare bone disease
Healthcare trajectory of children with rare bone disease attending pediatric emergency departments
... No published study has focused on the healthcare tra- jectories of children with rare diseases visiting the PED. Our results show that the role of the PED in the care of RBD patients is largely one of diagnosis, ...
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Refracture of the tibia 6 years after bilateral tibia nail removal in a patient later diagnosed with osteopetrosis
... Abstract: Osteopetrosis is a rare bone disease with a high fracture incidence and a risk for recurrent fractures. We describe a case report of an adult female with a refracture of her right tibia 6 ...
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Paget disease of bone
... Several susceptibility loci for PD have been recently identified, including 2q36, 5q31, 5q35, 10p13, 18q21–22, and 18q23 (61–66) (Table 3). Mutations in the TNFRSF11A gene (encoding RANK) on chromosome 18q21–22 have been ...
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Rare Occurrence of Primary Chest Wall Bone Tumours
... The third case was a 20 year female presented with a right chest wall mass of 13 × 6 cm in contrast enhanced CT scan (Figure 3(a)) with a history of recurrence of a similar lesion 8 year back. X ray shows a radiolucent ...
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Case Report Erdheim-Chester Disease with Involvement of Axial Skeleton: A Rare Presentation of Rare Disease
... this disease is based on well established histological plus radiological ...99mTc bone scintigraphy, computed tomography (CT) and MRI) are able to completely assess of ...99mTc bone scintigraphs also ...
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Primary intraosseous meningioma: an osteosclerotic bone tumour mimicking malignancy
... The pathogenesis of PIM is controversial. It has been suggested that PIMs may develop by entrapment of arachnoid cap cells in cranial sutures during pre/post- natal development of the skull or during delivery [7–9]. It ...
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Langerhans cell histiocytosis presenting as isolated central diabetes insipidus in a 2-year-old child: a rare manifestation of rare disease
... a rare, multifarious, and underdiagnosed hematologic disease in which isolated diabetes insipidus can be the sole presenting feature before other ...
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Multiple pathologic fractures in a 19-month-old boy with sickle cell disease
... cell disease is rare; bone involvement is well documented in this disease, however multiple pathologic fractures as a complication are ...cell disease who developed multiple pathologic ...
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Thesis
... Even though the internet was found to be a helpful information source for some patients of RDs, the literature showed that patients were equally accepting of information from a variety of sources to include internet ...
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Model consent clauses for rare disease research
... the rare disease research context, however, consent processes have become complex in the current landscape of technological and genomic ad- vances, along with the extensive collection, pooling and ...
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Effect of psoralen on the expression of PPARγ, osteocalcin, and trabecular bone area in rabbits with steroid-induced avascular necrosis of the femoral head
... crawling and the growth of new bone and to delay the time of joint replacement. (3) One of the new surgical methods in recent years, stem cell transplantation sur- gery, is also popular, but because of its high ...
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Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets
... specific rare disease prevalence, using the Hong Kong Census data from the end of 2016 ...for rare disease patients was calculated, which was assumed to be the same over the study period, with ...
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Sclerostin : a key regulator of bone metabolism
... All 15 patients had experienced in the past one or more episodes of facial palsy. The median age at first occurrence was 2.5 years. Facial palsy was already present at birth in two patients, and was observed within the ...
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Bilateral desmoid tumor of the breast: case series and literature review
... Six months later, she developed a new mass in her left breast. The ultrasound showed an irregular hypoechoic mass at L11 medial to the surgical scar of 6.5 mm. This was suspected to be a recurrent fibrous (desmoid) ...
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Mineral bone disorders (MBD) in patients on peritoneal dialysis
... Nevertheless, the target values for serum P, Ca, and PTH in PD patients are the same as those in HD patients. In PD patients, however, it is plausible to initiate correction of any of these values once any tendency ...
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Categorizing diffuse parenchymal lung disease in children
... Lack of sufficient data in a case is a common problem in clinical practice, hindering the establishment of a cor- rect diagnosis. Data may be insufficient for many reasons, such as high costs for diagnostic testing, ...
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Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development
... Some limitations of the present study should be con- sidered. First, the factors associated with greater vulner- ability to dental caries in individuals with MPS and OI were not investigated. Further research is needed ...
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Amyloidosis cutis dyschromica
... B damage [16]. However, the cutaneous findings of all patients are distributed over the entire skin surface, and the face, neck, and hands often have a milder presenta- tion than the non-sun-exposed skin area. This ...
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A Rare Case of Wilsons Disease with Zoophilia
... Wilsons Disease or Hepatolenticular Degeneration is a rare inherited disorder affecting both the liver and central nervous system. It occurs due to a mutation in the ATP7B gene located on the long arm of ...
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ORPHAN DRUGS AND HIGH COST MEDICATIONS: CHALLENGES AND SOLUTIONS
... other rare diseases in the pipeline and other alternative funding sources are ...A Rare Disease and Orphan Drug Act is urgently needed in Malaysia to facilitate adequate funding for treatment of ...
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