A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient's spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient.

Evaluation of the field-protective effectiveness of seasonal influenza vaccine among Korean children aged < 5 years during the 2014-2015 and 2015-2016 influenza seasons: a cohort study.

BACKGROUND: A field effectiveness evaluation of the influenza vaccine among children younger than five years is important due to the high burden of influenza in this age group. The epidemiology of influenza virus changes rapidly each year. Moreover, the development of a new type of influenza vaccine is accelerating, necessitating a new field effectiveness evaluation. METHODS: This multi-center, open-label cohort study was conducted in the northern part of Seoul from December 2014 to May 2015 and in Gyeong-gi Province from December 2015 to May 2016. The cohort comprised an influenza vaccinated group and non-vaccinated group. During the influenza seasons, we conducted influenza rapid tests and polymerase chain reaction assays for individuals with suspected influenza and checked for the presence of influenza virus. We calculated the influenza vaccine effectiveness by comparing the incidence rates of influenza between the vaccinated and non-vaccinated groups. RESULTS: During the 2014-2015 season, the field effectiveness of the influenza vaccine was 38.4%. In particular, the vaccine effectiveness against type A influenza virus was 50.7%. During the 2015-2016 season, the vaccine effectiveness reached 23.8% and the vaccine effectiveness against type A influenza virus was 48.5%. The vaccine effectiveness against influenza B virus was markedly reduced in both seasons. CONCLUSION: The influenza vaccine was supposed to be effective against influenza A, but may have a limited effectiveness against influenza B among Korean children aged < 5 years.

Humanizing NOD/SCID/IL-2Rγnull (NSG) mice using busulfan and retro-orbital injection of umbilical cord blood-derived CD34(+) cells.

BACKGROUND: Humanized mouse models are still under development, and various protocols exist to improve human cell engraftment and function. METHODS: Fourteen NOD/SCID/IL-2Rγnull (NSG) mice (4‒5 wk old) were conditioned with busulfan and injected with human umbilical cord blood (hUCB)-derived CD34(+) hematopoietic stem cells (HSC) via retro-orbital sinuses. The bone marrow (BM), spleen, and peripheral blood (PB) were analyzed 8 and 12 weeks after HSC transplantation. RESULTS: Most of the NSG mice tolerated the regimen well. The percentage of hCD45(+) and CD19(+) cells rose significantly in a time-dependent manner. The median percentage of hCD45(+)cells in the BM was 55.5% at week 8, and 67.2% at week 12. The median percentage of hCD45(+) cells in the spleen at weeks 8 and 12 was 42% and 51%, respectively. The median percentage of hCD19(+) cells in BM at weeks 8 and 12 was 21.5% and 39%, respectively (P=0.04). Similarly, the median percentage of hCD19(+) cells in the spleen at weeks 8 and 12 was 10% and 24%, respectively (P=0.04). The percentage of hCD19(+) B cells in PB was 23% at week 12. At week 8, hCD3(+) T cells were barely detectable, while hCD7(+) was detected in the BM and spleen. The percentage of hCD3(+) T cells was 2‒3% at week 12 in the BM, spleen, and PB of humanized NSG mice. CONCLUSION: We adopted a simplified protocol for establishing humanized NSG mice. We observed a higher engraftment rate of human CD45(+) cells than earlier studies without any significant toxicity. And human CD45(+) cell engraftment at week 8 was comparable to that of week 12.

Severe Hepatic Sinusoidal Obstruction Syndrome in a Child Receiving Vincristine, Actinomycin-D, and Cyclophosphamide for Rhabdomyosarcoma: Successful Treatment with Defibrotide.

Hepatic sinusoidal obstruction syndrome (SOS) is a life-threatening syndrome that generally occurs as a complication after hematopoietic stem cell transplantation or, less commonly, after conventional chemotherapy. Regarding SOS in rhabdomyosarcoma patients who received conventional chemotherapy, the doses of chemotherapeutic agents are associated with the development of SOS. Several cases of SOS in rhabdomyosarcoma patients after receiving chemotherapy with escalated doses of cyclophosphamide have been reported. Here, we report on a 9-year-old female with rhabdomyosarcoma who developed severe SOS after receiving chemotherapy consisting of vincristine, actinomycin-D, and a moderate dose of cyclophosphamide. She was treated successfully with defibrotide without sequelae to the liver.