The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.

This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.

This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.

This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.

This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.

Background: s/Aims: Reported incidence of extrahepatic bile duct cancer is higher in Asians than in Western populations. Korea, in particular, is one of the countries with the highest incidence rates of extrahepatic bile duct cancer in the world. Although research and innovative therapeutic modalities for extrahepatic bile duct cancer are emerging, clinical guidelines are currently unavailable in Korea. The Korean Society of Hepato-Biliary-Pancreatic Surgery in collaboration with related societies (Korean Pancreatic and Biliary Surgery Society, Korean Society of Abdominal Radiology, Korean Society of Medical Oncology, Korean Society of Radiation Oncology, Korean Society of Pathologists, and Korean Society of Nuclear Medicine) decided to establish clinical guideline for extrahepatic bile duct cancer in June 2021. Methods: Contents of the guidelines were developed through subgroup meetings for each key question and a preliminary draft was finalized through a Clinical Guidelines Committee workshop. Results: In November 2021, the finalized draft was presented for public scrutiny during a formal hearing. Conclusions The extrahepatic guideline committee believed that this guideline could be helpful in the treatment of patients.