1.Sphenoid Sinusitis with Haemophilus influenzae Septicemia.
Wooyong JEONG ; Young Ah KIM ; Yoonseon PARK
Korean Journal of Medicine 2016;91(3):334-337
Haemophilus influenzae grows both aerobically and anaerobically and is an exclusively human pathogen. We present a case of septicemia originating from unilateral sphenoid sinusitis caused by non-typeable H. influenzae. No reports of sinusitis presenting as septicemia in a healthy young immunocompetent adult in South Korea have previously been published.
Adult
;
Haemophilus influenzae*
;
Haemophilus*
;
Humans
;
Influenza, Human
;
Korea
;
Sepsis*
;
Sinusitis
;
Sphenoid Sinus*
;
Sphenoid Sinusitis*
2.Pregnancy Rates and Outcomes of HIV-Infected Women in Korea.
Heun CHOI ; Moo Hyun KIM ; Se Ju LEE ; Eun Jin KIM ; Woonji LEE ; Wooyong JEONG ; In Young JUNG ; Jin Young AHN ; Su Jin JEONG ; Nam Su KU ; Ji Hyeon BAEK ; Young Hwa CHOI ; Hyo Youl KIM ; June Myung KIM ; Jun Yong CHOI
Journal of Korean Medical Science 2018;33(47):e296-
BACKGROUND: Antepartum, intrapartum, and postpartum preventive measures with antiretroviral drugs, appropriate delivery methods, and discouraging breastfeeding significantly decrease the risk of mother-to-child transmission of human immunodeficiency virus (HIV) infection. Herein, we investigated the pregnancy outcomes in HIV-infected Korean women. METHODS: We retrospectively reviewed medical records of childbearing-age HIV-infected women between January 2005 and June 2017 at four tertiary care hospitals in Korea. RESULTS: Among a total of 95 HIV infected women of child-bearing age with 587.61 years of follow-up duration, 15 HIV-infected women experienced 21 pregnancies and delivered 16 infants. The pregnancy rate was 3.57 per 100 patient-years. Among the 21 pregnancies, five ended with an induced abortion, and 16 with childbirth including two preterm deliveries at 24 and 35 weeks of gestation, respectively. The two preterm infants had low birth weight and one of them died 10 days after delivery due to respiratory failure. Among the 14 full-term infants, one infant was small for gestational age. There were no HIV-infected infants. CONCLUSION: The pregnancy rate of HIV-infected women in Korea is lower than that of the general population. Although several adverse pregnancy outcomes were observed, mother-to-child transmission of HIV infection was successfully prevented with effective preventive measures.
Abortion, Induced
;
Breast Feeding
;
Female
;
Follow-Up Studies
;
Gestational Age
;
HIV
;
HIV Infections
;
Humans
;
Infant
;
Infant, Low Birth Weight
;
Infant, Newborn
;
Infant, Premature
;
Korea*
;
Medical Records
;
Parturition
;
Postpartum Period
;
Pregnancy Outcome
;
Pregnancy Rate*
;
Pregnancy*
;
Respiratory Insufficiency
;
Retrospective Studies
;
Tertiary Healthcare
3.An Imported Case of Brucella melitensis Infection in South Korea.
Jee Young LEE ; Yongduk JEON ; Mi Young AHN ; Hea Won ANN ; In Young JUNG ; Wooyong JUNG ; Moo Hyun KIM ; Jin Young AHN ; Je Eun SONG ; Yong Chan KIM ; Dong Hyun OH ; Eun Jin KIM ; Su Jin JEONG ; Nam Su KU ; Hyunsoo KIM ; Kyungwon LEE ; June Myung KIM ; Jun Yong CHOI
Infection and Chemotherapy 2018;50(2):149-152
Brucellosis is a zoonotic infection that is usually transmitted from cattle to humans through ingestion of animal milk, direct contact with animal parts, or inhalation of aerosolized particles. In Korea, brucellosis seem to be transmitted through close contact with blood, fetus, urine, and placenta of domestic cow that has been infected by Brucella abortus, or inhalation of B. arbortus while examining or slaughtering cow. Brucella melitensis infection is rare in Korea and there have been no reported cases of B. melitensis originating from other countries until now. This report details a case of complicated brucellosis with infective spondylitis in a 48-year-old male construction worker recently returned from Iraq. Infection with B. melitensis was confirmed using 16s rRNA sequencing and omp31 gene analysis. The patient was successfully treated using a combination of rifampin, doxycycline, and streptomycin, in accordance with WHO guidelines. This is the first reported case of complicated brucellosis with infective spondylitis in Korea caused by B. melitensis originating from Iraq.
Animals
;
Brucella abortus
;
Brucella melitensis*
;
Brucella*
;
Brucellosis
;
Cattle
;
Doxycycline
;
Eating
;
Fetus
;
Humans
;
Inhalation
;
Iraq
;
Korea*
;
Male
;
Middle Aged
;
Middle East
;
Milk
;
Placenta
;
Rifampin
;
Spondylitis
;
Streptomycin
;
Zoonoses
4.An Imported Case of Brucella melitensis Infection in South Korea.
Jee Young LEE ; Yongduk JEON ; Mi Young AHN ; Hea Won ANN ; In Young JUNG ; Wooyong JUNG ; Moo Hyun KIM ; Jin Young AHN ; Je Eun SONG ; Yong Chan KIM ; Dong Hyun OH ; Eun Jin KIM ; Su Jin JEONG ; Nam Su KU ; Hyunsoo KIM ; Kyungwon LEE ; June Myung KIM ; Jun Yong CHOI
Infection and Chemotherapy 2018;50(2):149-152
Brucellosis is a zoonotic infection that is usually transmitted from cattle to humans through ingestion of animal milk, direct contact with animal parts, or inhalation of aerosolized particles. In Korea, brucellosis seem to be transmitted through close contact with blood, fetus, urine, and placenta of domestic cow that has been infected by Brucella abortus, or inhalation of B. arbortus while examining or slaughtering cow. Brucella melitensis infection is rare in Korea and there have been no reported cases of B. melitensis originating from other countries until now. This report details a case of complicated brucellosis with infective spondylitis in a 48-year-old male construction worker recently returned from Iraq. Infection with B. melitensis was confirmed using 16s rRNA sequencing and omp31 gene analysis. The patient was successfully treated using a combination of rifampin, doxycycline, and streptomycin, in accordance with WHO guidelines. This is the first reported case of complicated brucellosis with infective spondylitis in Korea caused by B. melitensis originating from Iraq.
Animals
;
Brucella abortus
;
Brucella melitensis*
;
Brucella*
;
Brucellosis
;
Cattle
;
Doxycycline
;
Eating
;
Fetus
;
Humans
;
Inhalation
;
Iraq
;
Korea*
;
Male
;
Middle Aged
;
Middle East
;
Milk
;
Placenta
;
Rifampin
;
Spondylitis
;
Streptomycin
;
Zoonoses
5.Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
Man Jin KIM ; Soo Yeon KIM ; Jin Sook LEE ; Sanggoo KANG ; Lae-Jeong PARK ; Wooyong CHOI ; Ju Yeol JUNG ; Taehyung KIM ; Sung Sup PARK ; Jung Min KO ; Moon-Woo SEONG ; Jong Hee CHAE
Annals of Laboratory Medicine 2023;43(3):280-289
Background:
New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. We designed a targeted sequencing platform to avoid ethical issues and reduce the turnaround time.
Methods:
We designed an automated sequencing platform using dried blood spot samples and a NEOseq_ACTION panel comprising 254 genes associated with Mendelian diseases having curable or manageable treatment options. Retrospective validation was performed using data from 24 genetically and biochemically confirmed patients. Prospective validation was performed using data from 111 patients with suspected actionable genetic diseases.
Results:
In prospective clinical validation, 13.5% patients presented with medically actionable diseases, including short- or medium-chain acyl-CoA dehydrogenase deficiencies (N=6), hyperphenylalaninemia (N=2), mucopolysaccharidosis type IVA (N=1), alpha thalassemia (N=1), 3-methylcrotonyl-CoA carboxylase 2 deficiency (N=1), propionic acidemia (N=1), glycogen storage disease, type IX(a) (N=1), congenital myasthenic syndrome (N=1), and citrullinemia, type II (N=1). Using the automated analytic pipeline, the turnaround time from blood collection to result reporting was <4 days.
Conclusions
This pilot study evaluated the possibility of rapid and timely diagnosis of treatable rare genetic diseases using a panel designed by a multidisciplinary team. The automated analytic pipeline maximized the clinical utility of rapid targeted sequencing for medically actionable genes, providing a strategy for appropriate and timely treatment of rare genetic diseases.