Journal of Yeungnam Medical Science

Case reports

Pediatrics, Perinatology, and Child Health
Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report: Jin Hee Jung, Juiee Jeong, Sung Hyun Kim; J Yeungnam Med Sci. 2026;43:8. Published online January 5, 2026; DOI: https://doi.org/10.12701/jyms.2026.43.8

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Abstract PDF: The 7q terminal deletion syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7 between 7q32 and 7q36.3. It is characterized by various clinical symptoms, such as abnormal facial features and impaired mental and physical development. Currarino syndrome is defined by a triad of sacral bone defects, anorectal malformations, and presacral masses and is often associated with mutations in the MNX1 gene located at 7q36.3. Only a few cases of 7q terminal deletion syndrome have been reported in Korea. In one of these familial cases, Currarino syndrome was associated with a complex chromosomal rearrangement involving a 7q deletion and an 8q duplication. However, to our knowledge, cases of isolated 7q terminal deletions without other structural chromosomal abnormalities have not been described in the literature. We report the case of a 9-month-old girl who presented with the complete Currarino syndrome triad and a 7q35 to 7q36.3 (12 Mb) deletion identified by chromosomal microarray analysis. To the best of our knowledge, this is the first Korean case report of the Currarino triad caused by an isolated terminal 7q deletion.

Pediatrics, Perinatology, and Child Health
Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report: Jeong A Ham, Sung Hyun Kim, Donghwi Park; J Yeungnam Med Sci. 2023;40(4):419-422. Published online December 2, 2022; DOI: https://doi.org/10.12701/jyms.2022.00493

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Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

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Prenatal Diagnosis of Apparently Isolated Absence of the Septum Pellucidum: Literature Review and Presentation of a Rare Association With 15q13.3 Microduplication
Claudiana Olivieri, Nicola Volpe, Angela Gentile, Raffaella Peschechera, Mauro De Guglielmo, Paolo Volpe
Journal of Clinical Ultrasound.2025;[Epub] CrossRef

Original Article

Oncology and Cancer Research
Chemotherapy adherence is a favorable prognostic factor for elderly patients with multiple myeloma who are treated with a frontline bortezomib-containing regimen: Hee-Jeong Cho, Sang-Kyung Seo, Dong Won Baek, Sung-Woo Park, Yoo-Jin Lee, Sang-Kyun Sohn, Ho-Sup Lee, Won Sik Lee, Ji Hyun Lee, Sung Hyun Kim, Joon-Ho Moon; Yeungnam Univ J Med. 2018;35(1):76-83. Published online June 30, 2018; DOI: https://doi.org/10.12701/yujm.2018.35.1.76

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Abstract PDF

Background
Elderly patients with multiple myeloma (MM) are vulnerable to adverse events (AEs). This study evaluated adherence to chemotherapy and treatment outcomes in elderly patients treated with a frontline bortezomib (BTZ), melphalan, and prednisone (VMP) regimen and regimens without BTZ.
Methods
One-hundred and forty elderly patients who were diagnosed with MM from March 2007 to March 2015 were included in this retrospective study. To evaluate regimen adherence, patients who were treated with more than 4 cycles were assigned to the good adherence group.
Results
Among the 140 patients, 71 were treated with a frontline VMP and 69 with non-BTZ regimens. The median age was 71 years (range, 65-90 years). The VMP group showed a higher complete response rate than the non-BTZ group: 26.8% vs. 7.2%. More patients in the VMP group achieved ≥very good partial response (VGPR) and ≥PR. In the VMP group, 27 patients (38.0%) received less than 4 cycles. The VMP good adherence group showed a higher 3-year overall survival (OS) rate (70.9%) than the poor adherence group (60.2%, p=0.059). In the multivariate analysis, treatment with ≥4 cycles of VMP was a favorable factor for OS.
Conclusion
A good adherence to a frontline VMP regimen resulted in favorable long-term survival. Adequate management of AEs will be needed to achieve favorable outcomes in elderly patients with MM.

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The characteristics of Korean elderly multiple myeloma patients aged 80 years or over
Sang Hwan Lee, Hee-Jeong Cho, Joon Ho Moon, Ji Yoon Jung, Min Kyoung Kim, Mi Hwa Heo, Young Rok Do, Yunhwi Hwang, Sung Hwa Bae
The Korean Journal of Internal Medicine.2025; 40(1): 115. CrossRef
Solomon Islands Oncology Unit: Sustainability in Terms of Outcomes
Dylan Bush, Mark Love, Hugo Bugoro, Nixon Panda
JCO Global Oncology.2024;[Epub] CrossRef
Real World Adherence to and Persistence With Oral Oncolytics in Multiple Myeloma: A Systematic Review and Meta-analysis
Abdallah Y. Naser, Richard Ofori-Asenso, Safaa Al Awawdeh, Sami Qadus, Hassan Alwafi, Danny Liew
Clinical Lymphoma Myeloma and Leukemia.2022; 22(10): 760. CrossRef
Oral therapy adherence and satisfaction in patients with multiple myeloma
Marine Solano, Etienne Daguindau, Cyril Faure, Pierre Loriod, Coline Pain, Anne-Cécile Maes, Pauline Marguet, Marie Kroemer, Anne Rumpler, Jean Fontan, Eric Deconinck, Samuel Limat, Anne-Laure Clairet
Annals of Hematology.2021; 100(7): 1803. CrossRef

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