Primary effusion lymphoma (PEL) is a rare and aggressive B-cell non-Hodgkin's lymphoma that usually presents with malignant effusions without tumor masses. An extracavitary or solid variant of PEL has also been described. Human herpes virus 8/Kaposi sarcoma-associated herpes virus (HHV-8/KSHV) is universally associated with the pathogenesis of PEL. More than 70% of cases occur with concurrent Epstein-Barr virus infection, but its relation to the pathogenesis is unknown. Patients are found in the context of immunosuppressive states (HIV-1 infection, post-organ transplantation). PEL is usually treated with CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone)-like chemotherapy with antiretroviral therapy if HIV-1 is positive. However, it is generally resistant to chemotherapy with a short median survival of less than 6 months. The optimal treatment for PEL has not been established yet. More intensive chemotherapy, such as dose-adjusted EPOCH (DA-EPOCH; etoposide, prednisone, vincristine, cyclophosphamide and doxorubicin) and CDE (cyclophosphamide, doxorubicin, etoposide) are expected to show a favorable prognosis. Recently, the molecular steps in KSHV/HHV-8-driven oncogenesis have begun to be revealed, and molecular targeting therapies such as proteasome, NF-κB, cytokines and surface antigens would provide evidence for their clinical use.

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Pseudoxanthoma elasticum (PXE) is a type of rare hereditary disease that affects connective tissue. PXE is found around the world, and its epidemiology in China is still unclear. A database search revealed that 86 patients in total were reported in China from 1985 to 2013. The vast majority of these reports concern single, sporadic cases. This review summarizes the clinical characteristics of PXE and its treatment in China. The hope is to provide a reliable basis for studies on the incidence of PXE and for formulation of relevant policies in the future.

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Mucopolysaccharidosis (MPS) is a constellation of disorders characterized by the accumulation of mucopolysaccharides in tissues and organs. This accumulation results in the deterioration and degeneration of multiple organs. This paper describes the general distribution of types of MPS in patients, their clinical characteristics and genotypes, the development of animal studies and preclinical studies, enzyme replacement therapy in South Korea, and the development of idursulfase beta and clinical trials on idursulfase beta in South Korea. In addition, this paper discusses academic collaboration among specialists in MPS care in the Asia-Pacific region, which includes Japan, Taiwan, Malaysia, and South Korea, through an organization called the Asia-Pacific MPS Network (APMN). The Asia-Pacific MPS Registry, an electronic remote data entry system, has been developed by key doctors in the APMN. Rare diseases require international cooperation and collaboration to elucidate their mechanisms and carry out clinical trials; therefore, an organization such as the APMN is required. Furthermore, international collaboration among Asian countries and countries around the world will be of utmost importance in the future.

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Noninvasive prenatal testing (NIPT) provides an innovative method to detect genetic conditions in fetuses using a maternal blood sample, thus avoiding the risk of miscarriage associated with traditional invasive procedures. Since 80% of rare diseases are genetic diseases, NIPT has the potential to detect rare genetic diseases early on and it has been used in many countries and regions. Since China has the world's largest population of patients with rare diseases, NIPT has been implemented in China since 2010. However, the regulations governing NIPT in China are weak and NIPT oversight and research are still lacking. Strict registration is needed to ensure the quality of NIPT, additional certification can help a developer/manufacturer of an NIPT test to compile clinical data and to improve innovation, and academic societies can provide committee opinions that are suited to the current situation in China. These efforts may improve regulations governing NIPT and NIPT oversight and research in China. With these improvements, NIPT may offer promise in terms of the early detection of rare diseases.

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Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acroosteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Patients usually present with short stature or dysmorphic features the Pediatric Endocrinology or Genetics clinics, with atypical fractures to the orthopedics clinics or hematological abnormalities to the hematology clinics. However, under-diagnosis or misdiagnosis of this condition is a major issue. Pycnodysostosis is not a life threatening condition, but craniosynostosis, frequent fractures, respiratory-sleep problems, and dental problems may cause significant morbidity. Although no specific treatment for this disorder has been described, patients should be followed for complications and treated accordingly. A specific treatment for the disorder must be established in the future to prevent complications and improve quality of life for patients in the current era of advanced molecular research.

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In order to promote public awareness and raise charitable donations for patients with amyotrophic lateral sclerosis (ALS), a charity activity known as the "Ice Bucket Challenge" went "viral" from social media in the US to the rest of the world in the summer of 2014. The Challenge had an obvious impact with a large number of participants and increasing charity donations. However, the effort has also garnered criticism for wasting water, possible safety concerns, and its status as a publicity stunt or grandstanding. A system of medical care for and research into rare diseases has been established in some countries in order to protect the rights and interests of patients with rare diseases, but such systems have yet to be established in other countries. An activity like the "Ice Bucket Challenge" is clearly not enough to improve the plight of patients with ALS or other rare diseases. However, the public awareness attracted by this challenge may provide the impetus for those countries that lack a system of medical care for and research into rare diseases to establish such a system. The public sector should bear the responsibility for taking on the important task of promoting the sustained development of a system of medical care for and research into rare diseases.

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A case of hospital-patient conflict has occurred in China that has lifted billows in the public and highlighted the lethality of amniotic fluid embolism (AFE). AFE is a rare but severe obstetric complication with high maternal mortality and morbidity. Globally, the incidence of AFE is estimated to be approximately 2 to 6 per 100,000 deliveries. The maternal mortality rate (MMR) attributable to AFE ranges between 0.5 to 1.7 deaths per 100,000 deliveries in the developed world and 1.9 to 5.9 deaths per 100,000 deliveries in the developing world. In developed countries, AFE often accounts for a leading cause of maternal mortality; whereas the proportion of maternal death caused by AFE tends to be not as dominant compared to common perinatal complications in developing countries. With the mechanism remaining to be elucidated, AFE can neither be predicted nor prevented even in developed countries. Treatment requires a set of highly intensive advanced emergency obstetric care, challenging obstetric care in developing countries. Although this complication is currently far from preventable, China has potential to improve the prognosis of AFE by strengthening the emergency obstetric care system.

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