rare disease
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2022 ◽  
Vol 5 (2) ◽  
pp. 01-04
Khadija Mouaddine ◽  
Mouna Sabib ◽  
Laila Benbella ◽  
Najat Lamalmi ◽  
Nezha Mouane

Intestinal lymphangiesctasia (IL) is a rare disease characterized by the dilation of intestinal lymphatics. It can be classified as primary or secondary depending on the underlying etiology. Usually seen in childhood or adolescence, chronic diarrhea and diffuse edema are the main clinical manifestations of the disease. True lymphoedemas can also be present and affect the lower and upper limbs, they are concomitant with the diagnosis or occur during the course. The diagnosis is based on the visualization of duodenal lymphangiesctasia. The primitive nature of the disease being affirmed by the elimination of the diseases causing secondary lymphangiectasias. Treatment is based on a strict hypo lipid diet enriched with medium chain triglycerides (MCTs). We present through this work the observation of a 12-month-old infant who presented with primary intestinal lymphangiesctasia revealed by chronic diarrhea with lymphoedema of the left upper limb.

M. Patrick Stagg

Glomangiopericytoma is a rare sinonasal tumor. We report three casesof this rare disease that presented in nine days to one subspecialt ypractice. Histochemical and DNA sequencing confirmed the diagnosisineachcase.Endoscopicsinonasalsurgeryprovidedcompleteresectionin each case. The occurrence of three cases to one practice withina 2-week timeframe may suggest GPC is under-recognized. Routinesequencing to detect CTNNB1 mutations and staining for smooth muscleactin of suspicious sinonasal tumorsmayincrease the frequencyof GPC detection

2022 ◽  
Lingli Zhou ◽  
Jun Xu ◽  
jing yang

Abstract Background: Rare diseases are serious and chronic disease that affect no more than 1 person in 2000. The patients suffering from RD may come to emergency department for life-threatening symptoms, such as acute aortic dissection, intracranial hemorrhage, and severe respiratory distress. Diagnostic delay of rare disease patients is common and often caused by low rare disease awareness among physicians. The main aim of this study was to investigate the Chinese emergency physicians’ basic knowledge, information access and educational needs regarding rare diseases. An online questionnaire was completed by Chinese emergency physicians during January and March 2021. Methods and Results: A total of 539 emergency physicians responded to the questionnaire-based study, including 200 females and 339 males. More than half of respondents were from Tertiary A hospital and had engaged in medical clinical work more than 10 years. Only 4.27% of respondents correctly estimated the prevalence of rare diseases. A few respondents knew the exact number of RD in the first official list of rare diseases in 2018. 98.5% of respondents rated their knowledge about rare diseases as rare or insufficient. Most of emergency physicians preferred to getting information by search engine instead of specialized websites of rare diseases. Lack of practice guidelines or consensus and were considered as the most important reason for diagnostic delay of RD. Practice guidelines or consensus and professional websites on rare diseases were urgently needed for emergency physicians.Conclusion: The investigation shows poor knowledge of emergency physicians regarding rare diseases. Practice guidelines and professional websites on rare diseases were the prominently urgent needs for emergency physicians. Specialized RD courses should also be added in medical education.

PET Clinics ◽  
2022 ◽  
Vol 17 (1) ◽  
pp. 13-29
Navid Hasani ◽  
Faraz Farhadi ◽  
Michael A. Morris ◽  
Moozhan Nikpanah ◽  
Arman Rhamim ◽  

2021 ◽  
Kota Ninomiya ◽  
Masahiro Okura

Abstract BackgroundMore than 7,000 diseases constitute what are called rare diseases, and they mostly have no specific treatment. Disease profiles, such as prevalence and natural history, among the population of a specific country are essential in determining for which disease to research and develop drugs. In Japan, disease profiles of fewer than 2,000 rare diseases, called Nanbyo, have been investigated. However, non-Nanbyo rare diseases remain largely uninvestigated. Accordingly, we reveal the prevalence and natural history of rare diseases among the Japanese population, using the National Database of Health Insurance Claims and Specific Health Checkups of Japan, which covered 99.9% of public health insurance claims from hospitals and 97.9% from clinics as of May 2015. Then, we compared them with the data reported in Orphanet. This cross-disease study is the first to analyze rare-disease epidemiology in Japan with high accuracy, disease coverage, and granularity.ResultsWe were provided with the number of patients of approximately 4,500 rare diseases by sex and age for 10 years with the permission of the Ministry of Health, Labour and Welfare. About 3,000 diseases have equivalent terms in Orphanet and other medical databases. The data show that even if the Nanbyo systems do not cover a rare disease, its patients survive in many cases. Moreover, regarding natural history, genetic diseases tend to be diagnosed later in Japan than they are in the West. The data collected for this research work are available in the supplement and the website of NanbyoData.ConclusionsOur research work revealed the basic epidemiology and the natural history of Japanese patients with rare diseases using a health insurance claims database. The results imply that the coverage of the present Nanbyo systems is inadequate for rare diseases. Therefore, fundamental reform might be needed to reduce unfairness between rare diseases. Moreover, most diseases in Japan follow a tendency similar to those reported in Orphanet. However, some diseases are detected later, partly because fewer clinical genetic tests are available in Japan than there are in the West. Finally, we hope that our data and analysis accelerate drug discovery for rare diseases in Japan.

Yuji Doi ◽  
Kenji Waki ◽  
Kayo Ogino ◽  
Tomohiro Hayashi

Abstract Background Hypoplastic coronary artery disease (HCAD) is an extremely rare disease associated with a risk of sudden cardiac death. It is rarely recognized in a live pediatric patient. Case summary We report a case of HCAD in a patient who first presented with vomiting and poor feeding, suggestive of acute heart failure due to cardiomyopathy or acute myocarditis in infancy. Hypertension and signs of ischemia became evident on electrocardiography and scintigraphy after his cardiac function fully recovered, and he was diagnosed with HCAD by angiography performed at the age of eight years. He has remained under close observation with anti-hypertensives, aspirin, and exercise restriction. Discussion Although HCAD is a rare disease, it may not only cause ischemia but may also result in heart failure and sudden cardiac death. It should be considered in any pediatric patient with heart failure. Mid-term follow-up visits might be necessary to detect signs of ischemia in pediatric patients presenting with features of heart failure.

Yafang Tang ◽  
Ravichandran Nadarajah

Extrauterine leiomyoma is a rare disease with multiple potential metastasizing sites. Pathogenesis of this condition remains debatable with previous myomectomy a considerable risk factor. Diagnosis and treatment remain a challenge due to diverse presenting symptoms and the initial involvement of various specialties, which often cause distress in these patients. In this article, we present one case of pulmonary leiomyomas on expectant management, one case of wide-disseminated extrauterine leiomyomas including the bones, spines, soft tissues and peritoneum who underwent decompression laminectomy and biopsy of paravertebral mass and one case of retroperitoneal leiomyoma who underwent resection of the lesion.

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