유전성 구상 적혈구증은 적혈구 골격 형성 장애로 인하여 황달과 빈혈을 유발할 수 있는 질환이다. 국내 영유아 검진 및 국가예방접종사업 등으로 인하여 대부분 성인이 되기 전에 병의 진단 및 치료가 잘 이루어지고 있다. 하지만 빈혈, 비장종대를 동반한 성인 환자에서 간경변증의 증거 없이 간수치 상승이 동반되는 경우는 드물지만 유전성 구상 적혈구증 또한 감별진단에 포함시켜야 하며, 담관결석에 대한 가능성을 염두에 두어야 한다.

Carrier testing for autosomal recessive hereditary disorders in the elite sire population has great significance for the domestic animal breeding. Because the recessive allele embedded in carriers without clinical signs may be passed to the next generation and rapidly spread throughout the population. The occurrences of various autosomal recessive hereditary disorders have been reported, and several causative mutations were elucidated in cattle. However, there is no report for the hereditary disorders in Korean cattle (Hanwoo) although Hanwoo is the indigenous purebred in Korea and have been improved by the national breeding programs in the last 30 years. Here, we investigated the presence of carrier for the following hereditary disorders in the Korean proven bulls (n=78; 42 family) using DNA based analysis: Chediak–Higashi syndrome, spherocytosis, claudin-16 deficiency, factor XI deficiency. The causative genes for these diseases (lysosomal trafficking regulator, solute carrier family 4 member 1, Claudin-16 and coagulation factor XI, respectively) were analyzed by polymerase chain reaction and direct sequencing. As a results, there was no carrier individual, and all animals were normal. Although the recessive alleles for four disorders were not identified in this study, further investigation for other hereditary disorders still remains to remove deleterious factors in the genetic improvement of Korean cattle.

유전적분형 물성방정식에 근거한 선형 점탄성문제의 효율적인 수치해석을 위해서 새로운 유한요소해법을 공식화하였다. 각 시간구간에서 변수변화를 선형적으로 가정하고 유전적분의 계산을 매우 효율적으로 처리하였다. 그 결과 과거의 해석법에 비하여 수치정확도 및 경제성에서 큰 향상을 얻었다.

Genetic factors are increasingly found as potential causes of children with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). Representative genes include cationic trypsinogen, serine protease 1 (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin C (CTRC) and calcium sensing receptor (CASR) genes, etc. In Korean children, PRSS1 and SPINK1 genes have been most commonly studied, while CFTR mutations were reported in one patient to date. We report a case of a 13-year-old male adolescent with CP with CFTR mutations. Since he was first diagnosed with idiopathic acute pancreatitis (IAP) based on laboratory and computed tomographic findings, he was admitted with ARP and CP over four times in a year at the secondary and tertiary hospital. No etiology was detected by several examinations including magnetic resonance cholangiopancreatography (MRCP), endosco-pic retrograde cholangiopancreatography (ERCP), endoscopic ultrasonography (EUS) with fine needle aspiration (FNA) biopsy and genetic test including PRSS1 and SPINK1. Although he had no typical symptoms associated with cystic fibrosis (CF), CFTR mutations were detected with additional gene examination. Testing for CFTR mutations should be concerned in pediatric patients with APR and CP without other identified causes.

The association between human parvovirus B19 and aplastic crisis in patients with hemolytic anemia, such as sickle-cell anemia and hereditary spherocytosis, has been well described. However, most cases of parvovirus induced-aplastic crisis in patients with hereditary spherocytosis have been reported in children or adolescents. We report on a 31-year-old female with pancytopenia who was diagnosed with aplastic crisis caused by parvovirus B19 infection in hereditary spherocytosis. It should be kept in mind that hereditary spherocytosis may initially present with aplastic crisis induced by parvovirus B19 infection in adults