Journal of Yeungnam Medical Science

Case reports

Hemophagocytic lymphohistiocytosis with recurrent Kikuchi-Fujimoto disease: Sang Min Lee, Young Tae Lim, Kyung Mi Jang, Mi Jin Gu, Jong Ho Lee, Jae Min Lee; Yeungnam Univ J Med. 2021;38(3):245-250. Published online November 11, 2020; DOI: https://doi.org/10.12701/yujm.2020.00654

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Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a self-limiting lymphadenitis. It is a benign disease mainly characterized by high fever, lymph node swelling, and leukopenia. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease with clinical symptoms similar to those of KFD, but it requires a significantly more aggressive treatment. A 19-year-old Korean male patient was hospitalized for fever and cervical lymphadenopathy. Variable-sized lymph node enlargements with slightly necrotic lesions were detected on computed tomography. Biopsy specimen from a cervical lymph node showed necrotizing lymphadenitis with HLH. Bone marrow aspiration showed hemophagocytic histiocytosis. The clinical symptoms and the results of the laboratory test and bone marrow aspiration met the diagnostic criteria for HLH. The patient was diagnosed with macrophage activation syndrome—HLH, a secondary HLH associated with KFD. He was treated with dexamethasone (10 mg/m2/day) without immunosuppressive therapy or etoposide-based chemotherapy. The fever disappeared within a day, and other symptoms such as lymphadenopathy, ascites, and pleural effusion improved. Dexamethasone was reduced from day 2 of hospitalization and was tapered over 8 weeks. The patient was discharged on day 6 with continuation of dexamethasone. The patient had no recurrence at the 18-month follow-up.

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Histiocytic necrotizing lymphadenitis with hemophagocytic lymphohistiocytosis in adults: A single‐center analysis of 5 cases
Qingqing Chen, Jing Zhang, Huijun Huang, Tonglu Qiu, Ze Jin, Yu Shi, Huayuan Zhu, Lei Fan, Jianyong Li, Wenyu Shi, Yi Miao
Immunity, Inflammation and Disease.2024;[Epub] CrossRef
A young Saudi female with combined hemophagocytic lympho-histiocytosis and Kikuchi’s disease: A case report
Kamal Al-Zahrani, Batol Gasmelseed, Hesham Waaer Shadi, Rehab Y AL-Ansari
SAGE Open Medical Case Reports.2023; 11: 2050313X2311543. CrossRef
Cefalea y fiebre: no todo es lo que parece
María Pilar Iranzo-Alcolea, Carmen Ariño-Palao, Grisell Starita-Fajardo, Andrés González-García, Cecilia Suárez-Carantoña
Revista Española de Casos Clínicos en Medicina Interna.2023; 8(2): 105. CrossRef
Kikuchi–Fujimoto disease: literature review and report of four cases
V. G. Potapenko, V. V. Baykov, А. Yu. Markova, N. B. Mikhailova, A. S. Ter‑Grigoryan, Yu. А. Krivolapov
Oncohematology.2022; 17(4): 48. CrossRef

A new type of oculocutaneous albinism with a novel OCA2 mutation: Sang Yoon Lee, Eun Joo Lee, Jun Chul Byun, Kyung Mi Jang, Sae Yoon Kim, Su-Kyeong Hwang; Yeungnam Univ J Med. 2021;38(2):160-164. Published online August 3, 2020; DOI: https://doi.org/10.12701/yujm.2020.00339

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Abstract PDF

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

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Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu
Molecular Genetics & Genomic Medicine.2024;[Epub] CrossRef
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
Muhammad Ikram Ullah
Genes.2022; 13(6): 1072. CrossRef

Original article

Evaluation of craniofacial morphology in short-statured children: growth hormone deficiency versus idiopathic short stature: Ki Bong Kim, Eun-Kyong Kim, Kyung Mi Jang, Min Seon Kim, Eun Young Park; Yeungnam Univ J Med. 2021;38(1):47-52. Published online July 7, 2020; DOI: https://doi.org/10.12701/yujm.2020.00325

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Abstract PDF

Background
Short stature is defined as a height below the 3rd percentile or more than two standard deviations below the mean for a given age, sex, and population. There have been inconsistent results regarding craniofacial morphology in short-statured children. This study aimed to analyze the differences between short-statured children with growth hormone deficiency, idiopathic short-statured children, and normal children.
Methods
Thirty-one short-statured children with growth hormone deficiency, 32 idiopathic short-statured children, and 32 healthy children were enrolled in this study. The measurements of their craniofacial structures from lateral cephalograms were evaluated.
Results
There were statistically significant differences among the three groups seven variables (anterior cranial base length, posterior cranial base length, total cranial base length, upper posterior facial height, posterior total facial height, mandibular ramus length, and overall mandibular length) in the linear measurement and five variables (saddle angle, gonial angle, mandibular plane angle, position of mandible, and maxilla versus mandible) in the angular measurement.
Conclusion
Compared to the control group, many linear and angular measurements of the craniofacial structures were significantly different in the two short-statured groups (p<0.05). Treatment plans by orthodontists should include these craniofacial structure characteristics.

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Dental arches in inherited severe isolated growth hormone deficiency
Rafaela S. Girão, Manuel H. Aguiar-Oliveira, Bruna M.R. Andrade, Marcos A.V. Bittencourt, Roberto Salvatori, Evânio V. Silva, André L.M. Santos, Matheus M. Cunha, Wilton M. Takeshita, Alaíde H.A. Oliveira, Eugênia H.O. Valença, Alécia A. Oliveira-Santos,
Growth Hormone & IGF Research.2022; 62: 101444. CrossRef
Sella turcica dimensions and maxillary growth in patients with unilateral cleft lip and palate
Gregory S. Antonarakis, Luis Huanca Ghislanzoni, David M. Fisher
Journal of Stomatology, Oral and Maxillofacial Surgery.2022; 123(6): e916. CrossRef
Clinical Implications of Growth Hormone Deficiency for Oral Health in Children: A Systematic Review
Natalia Torlińska-Walkowiak, Katarzyna Anna Majewska, Andrzej Kędzia, Justyna Opydo-Szymaczek
Journal of Clinical Medicine.2021; 10(16): 3733. CrossRef
A Clinical Study on the Treatment of Children’s Short Stature with Auxiliary Comprehensive Management Combined with Growth Patch
Haiying Feng, Weizhu Zhao, Huijun Yu, Guanfu Wang, Qunhong Wang, Songwen Tan
Evidence-Based Complementary and Alternative Medicine.2021; 2021: 1. CrossRef

Review article

Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment: Kyung Mi Jang; Yeungnam Univ J Med. 2020;37(1):13-21. Published online January 9, 2020; DOI: https://doi.org/10.12701/yujm.2019.00409

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Abstract PDF

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.

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Maturity-onset diabetes of the young type 7 (MODY7) and mutation in the Krüppel-like transcription factor 11 (KLF11) gene
Y Wang, X Ye, X Chen, H Zang, Q Shen, L Chen
QJM: An International Journal of Medicine.2024; 117(3): 219. CrossRef
Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus
Mohamed E. Elangeeb, Imadeldin Elfaki, Ali M. S. Eleragi, Elsadig Mohamed Ahmed, Rashid Mir, Salem M. Alzahrani, Ruqaiah I. Bedaiwi, Zeyad M. Alharbi, Mohammad Muzaffar Mir, Mohammad Rehan Ajmal, Faris Jamal Tayeb, Jameel Barnawi
Molecules.2024; 29(8): 1904. CrossRef
Novel gene mutation in maturity-onset diabetes of the young: A case report
Na Zhang, Hui Zhao, Cui Li, Feng-Zhi Zhang
World Journal of Clinical Cases.2023; 11(5): 1099. CrossRef
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study
Hui-Xuan Wu, Tian-Yao Chu, Junaid Iqbal, Hong-Li Jiang, Long Li, Yan-Xuan Wu, Hou-De Zhou
The Journal of Clinical Endocrinology & Metabolism.2023; 108(11): 2970. CrossRef
Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia
Maja Baretić, Domagoj Caban, Jadranka Sertić
Journal of Personalized Medicine.2023; 13(7): 1063. CrossRef
Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM
Jieying Liu, Ziyan Xie, Junling Fu, Miao Yu, Tong Wang, Cuijuan Qi, Peng Liu, Xiangyi Hui, Dongmei Wang, Lu Ding, Qian Zhang, Ting Xie, Xinhua Xiao
Diabetology & Metabolic Syndrome.2023;[Epub] CrossRef
When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
Özlem Üstay, Tugçe Apaydın, Onur Elbasan, Hamza Polat, Gizem Günhan, Ceyda Dinçer, Lamia Şeker, Esra Arslan Ateş, Ayşegül Yabacı, Ahmet lter Güney, Dilek Gogas Yavuz
Archives of Endocrinology and Metabolism.2022;[Epub] CrossRef
Meta-analysis of HNF1A-MODY3 variants among human population
Rachna Behl, Nishtha Malhotra, Vinay Joshi, Shruti Poojary, Sanniya Middha, Shalini Gupta, Arinola B. Olaonipekun, Ikechukwu Okoye, Bhushan Wagh, Dibyendu Biswas, Chukwuemelie Aginah, Bhavya Saini, Chinaza Nwanya, Sopuluchukwu Ugwu, Modupe M. Anthony, Xua
Journal of Diabetes & Metabolic Disorders.2022; 21(1): 1037. CrossRef
Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome
Ying Cheng, Da-Peng Zhong, Li Ren, Hang Yang, Chen-Fu Tian
BMC Endocrine Disorders.2022;[Epub] CrossRef
Diagnosis and Treatment of Monogenic Forms of Diabetes Mellitus: Focus on Mody-Diabetes
K. A. Aitbaev, I. T. Murkamilov, Zh. A. Murkamilova, V. V. Fomin, I. O Kudaibergenova, F. A. Yusupov
The Russian Archives of Internal Medicine.2022; 12(6): 430. CrossRef
Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review
Kyung Mi Jang
Precision and Future Medicine.2022; 6(4): 209. CrossRef
Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements
Carmel Braverman-Gross, Nissim Benvenisty
Frontiers in Endocrinology.2021;[Epub] CrossRef
Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) Sorumlu HNF4A, GCK ve HNF1 Gen Varyasyonlarının Dünya Genelinde Coğrafik Dağılımı
Deniz KANCA DEMİRCİ, Nurdan GÜL, İlhan SATMAN, Oguz OZTURK, Hülya YILMAZ AYDOĞAN
Haliç Üniversitesi Fen Bilimleri Dergisi.2021; 4(1): 41. CrossRef
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications
Marijke Timmers, Eveline Dirinck, Patrick Lauwers, Wim Wuyts, Christophe De Block
Diabetes/Metabolism Research and Reviews.2021;[Epub] CrossRef
Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young
Deniz Kanca Demirci, Feyza Darendeliler, Sukran Poyrazoglu, Asli Derya Kardelen Al, Nurdan Gul, Yildiz Tutuncu, Gizem Gulfidan, Kazim Yalcin Arga, Canan Cacina, Oguz Ozturk, Hulya Yilmaz Aydogan, Ilhan Satman
OMICS: A Journal of Integrative Biology.2021; 25(7): 431. CrossRef
A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases
Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh
Life.2021; 11(8): 771. CrossRef
A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes
Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh
Life.2021; 11(8): 755. CrossRef
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Abegail Tshivhase, Tandi Matsha, Shanel Raghubeer
Applied Sciences.2021; 11(20): 9436. CrossRef
Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research
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Frontiers in Endocrinology.2020;[Epub] CrossRef
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Diabetes & Metabolism Journal.2020; 44(5): 627. CrossRef
The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)
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Clinical Diabetes and Endocrinology.2020;[Epub] CrossRef

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