Article
Genetics & Heredity
Wenjin Geng, Fuwei Li, Ruoxuan Zhang, Lijing Cao, Xilong Du, Weiyue Gu, Meixian Xu
Summary: This study investigated the underlying genetic factors of a neonate with a wide variety of clinical abnormalities using trio (parents-proband) whole-exome sequencing (WES) and whole-genome sequencing (WGS). No possible pathogenic variation was detected by trio-WES, but a duplication variant in HOXA13 (c.360_377dup, p.Ala128_Ala133dup) inherited from the mother was identified by subsequent WGS. Further investigation of the family history revealed hand and foot anomalies in 5 members across 4 generations. The neonate was diagnosed with Hand-Foot-Genital Syndrome (HFGS) based on the genetic analysis.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, Research & Experimental
Mirjam de With, Leni van Doorn, Demi C. Maasland, Tessa A. M. Mulder, Esther Oomen-de Hoop, Bianca Mostert, Marjolein Y. V. Homs, Samira El Bouazzaoui, Ron H. J. Mathijssen, Ron H. N. van Schaik, Sander Bins
Summary: This study investigated whether single nucleotide polymorphisms (SNPs) in genes involved in capecitabine metabolism other than DPYD are associated with an increased risk for capecitabine-induced hand-foot syndrome (HFS). The results showed that carriers of the CES1 1165-33 C>A (rs2244613) and CDA 266 + 242 A>G (rs10916825) variant alleles have a higher risk of HFS grade 2.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Review
Genetics & Heredity
Yaoyao Wang, Lina Wang, Xiaoying Chen, Shiguo Liu, Wei Han, Xinjuan Yu, Xipeng Cao, Xiuxiang Liu, Jiahui Wang
Summary: This study analyzed and summarized the clinical and genetic characteristics of CCHS patients in the Chinese population. The results showed that patients with PHOX2B NPARMs were more likely to have premature birth and low birth weight. On the other hand, PHOX2B PARMs were positively associated with the risk of cardiovascular defects, cerebral hemorrhage, and seizures.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Xiumin Chen, Feiyue Zhao, Yiming Xu, Yixuan Cao, Shan Li, Xue Zhang, Xiuli Zhao
Summary: In this study, mutations in the HOXD13 gene were discovered in four unrelated Chinese families with limb malformations. A previously unobserved phenotype of preaxial polydactyly in both hands was also noted. The study also found that the number of inclusion bodies formed increased with the expansion of the polyalanine repeat, indicating an enriched understanding of the pathogenic mechanisms of SPD.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, General & Internal
Amr Hamza, Ghina Ghannam, Yaman Koudra Danial, Abdualh Fattal, Lina Ghabreau, Ghefar Omar, Manar Abdullah
Summary: Hand-Foot-Genital Syndrome (HFGS) is a dominantly inherited condition and can be presented with a variety of limb malformations and urogenital defects. Early detection of Embryonal Rhabdomyosarcoma in newborns diagnosed with HFGS is crucial to prevent potential fatal consequences.
ANNALS OF MEDICINE AND SURGERY
(2021)
Article
Medicine, Research & Experimental
Liying Sun, Yingzhao Huang, Sen Zhao, Junhui Zhao, Zihui Yan, Yang Guo, Mao Lin, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Zongxuan Zhao, Qingyang Li, Lianlei Wang, Xiying Dong, Yaqi Li, Xiaoxin Li, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Wen Tian, Nan Wu
Summary: This study aimed to decipher the mutational signature of congenital limb malformations (CLM) using exome sequencing, identifying novel pathogenic variants and candidate genes. By expanding the phenotypic spectrum of CLM, the researchers discovered RPL9 and UBA2 as potential new genes for CLM. The study significantly increased diagnosis rates among patients with a family history of CLM or multiple affected limbs, providing valuable insights into the genetic basis of these syndromes.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2021)
Article
Nanoscience & Nanotechnology
Xiaolin Hu, Mengmeng Dong, Xiao Liang, Ziling Liu, Quanshun Li
Summary: The administration of PLD has been shown to induce histological damage of skin tissues, including destruction of collagen fibers and severe inflammation and apoptosis of epidermal cells. This mechanism is likely due to the accumulation of PLD in skin tissues during long-term circulation, leading to the generation of ROS and oxidative damage to keratinocytes. ROS generation induced by PLD administration is a crucial factor in the development of HFS and may be a potential therapeutic target for alleviating symptoms.
INTERNATIONAL JOURNAL OF NANOMEDICINE
(2021)
Article
Oncology
Tetsuo Kume, Rika Shimizu, Kana Akiyama, Takayuki Tsuchiya, Michihiro Shino, Takashi Ikeda, Shinichi Iwai
Summary: This study retrospectively investigated the frequency of hand-foot syndrome (HFS) in recipients who received their first allogeneic hematopoietic stem cell transplantation (HSCT) and identified the risk factors for HFS occurrence. The results showed that HFS occurred in 48.1% of the cases, with a median occurrence of 8 days. Women, recipients administered busulfan four times daily, and recipients previously treated with anthracycline had a higher frequency of HFS.
SUPPORTIVE CARE IN CANCER
(2022)
Review
Cell Biology
Peiyu Zhu, Wangquan Ji, Dong Li, Zijie Li, Yu Chen, Bowen Dai, Shujie Han, Shuaiyin Chen, Yuefei Jin, Guangcai Duan
Summary: Hand-foot-and-mouth disease (HFMD) is a viral illness commonly seen in young children under 5 years of age, characterized by oral herpes and rashes on the hands and feet. It is important to note that HFMD may be associated with fatal neurological complications, but currently, there is no specific pharmaceutical intervention for HFMD.
JOURNAL OF BIOMEDICAL SCIENCE
(2023)
Article
Oncology
Tzu-Chen Lan, Po-Han Tsou, Ka-Wai Tam, Tsai-Wei Huang
Summary: In this meta-analysis, it was found that the use of urea cream can effectively prevent and treat severe hand-foot syndrome (HFS).
Article
Oncology
Si-Qi Dong, Tong-Min Wang, Jiang-Bo Zhang, Yong-Qiao He, Wen-Qiong Xue, Zi-Yi Wu, Da-Wei Yang, Lian-Jing Cao, Jing-Wen Huang, Xi-Zhao Li, Pei-Fen Zhang, Xiao-Hui Zheng, Wei-Hua Jia
Summary: This study aimed to identify genetic predictors of Capecitabine-induced HFS in Chinese colorectal cancer patients. New polymorphisms in the TYMS gene were significantly associated with CAP-HFS, providing potential genetic predictors and insights into the underlying mechanism of HFS.
CANCER RESEARCH AND TREATMENT
(2021)
Review
Virology
Ran Yan, Jiahao He, Ge Liu, Jianfeng Zhong, Jiapeng Xu, Kai Zheng, Zhe Ren, Zhendan He, Qinchang Zhu
Summary: Hand, foot, and mouth disease (HFMD) is a highly contagious disease in children caused by a group of enteroviruses. Currently, there is a lack of antiviral drugs in clinical practice for HFMD. Drug repositioning, specifically the repositioning of well-characterized therapeutics, is a potential strategy to identify new treatments for HFMD. Various types of drugs, including antibacterial, cardiovascular, and anticancer agents, have been studied for their therapeutic potential in treating HFMD.
Article
Medicine, General & Internal
Ha Rim Ahn, Sang-Kyung Lee, Hyun Jo Youn, Seok-Kweon Yun, Il-Jae Lee
Summary: The case report describes a 70-year-old woman who developed concurrent Stevens-Johnson syndrome (SJS) and hand-foot syndrome (HFS) following treatment with capecitabine and lapatinib for metastatic breast cancer. The patient's skin lesions improved with systemic steroid treatment, but ultimately died from multiple organ failure. This highlights the potential risk of life-threatening adverse cutaneous drug reactions associated with oral capecitabine treatment.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Dermatology
Yung-Shuo Kao, Chen-Hsu Lo, Yu-Kang Tu, Cheng-Hsien Hung
Summary: This study conducted a network meta-analysis to investigate the best preventive regimen for capecitabine-induced hand-foot syndrome (HFS). Among all the regimens, topical silymarin was found to be the most effective in preventing HFS, followed by pyridoxine (400 mg) and celecoxib.
DERMATOLOGIC THERAPY
(2022)
Review
Oncology
Jessa Gilda P. Pandy, Paula Isabel G. Franco, Rubi K. Li
Summary: This meta-analysis evaluated the efficacy of preventive strategies for hand-foot syndrome and hand-foot skin reaction, and found that urea cream and celecoxib are effective in preventing these side effects. Urea cream is more effective in preventing moderate to severe hand-foot skin reaction, while celecoxib is more effective in preventing hand-foot syndrome induced by capecitabine.
SUPPORTIVE CARE IN CANCER
(2022)
Article
Genetics & Heredity
Marc Nelson, Shane Quinonez, Todd Ackley, Ram K. Iyer, Jeffrey W. Innis
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2011)
Article
Genetics & Heredity
Shane C. Quinonez, Peter Hedera, Mason Barr, Todd Ackley, Cindy Lam, Anjali Purkayastha, Thomas W. Glover, Jeffrey W. Innis
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2012)
Article
Genetics & Heredity
Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover, Catherine E. Keegan
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2013)
Review
Endocrinology & Metabolism
Shane C. Quinonez, Jeffrey W. Innis
MOLECULAR GENETICS AND METABOLISM
(2014)
Article
Clinical Neurology
Shane C. Quinonez, Steven M. Leber, Donna M. Martin, Jess G. Thoene, Jirair K. Bedoyan
PEDIATRIC NEUROLOGY
(2013)
Article
Genetics & Heredity
Daniel Brooks, Katharine Asta, Julie Sturza, Birhanu Kebede, Delayehu Bekele, Balkachew Nigatu, Jenny Hewison, Shane C. Quinonez
PRENATAL DIAGNOSIS
(2019)
Article
Genetics & Heredity
Amanda Barone Pritchard, Christina Sloan-Heggen, Catherine E. Keegan, Shane C. Quinonez
Summary: The SARS-CoV-2 pandemic had a significant impact on medical education, particularly in the field of medical genetics. Trainee perspectives indicated an improvement in competency in various domains during the pandemic, but weaknesses were identified in dysmorphology and genetic counseling education. Further research is needed to understand the full impact of the pandemic on genetics education.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Shane C. Quinonez, Zewdu Terefework
Summary: Limited data are available on genetic testing laboratories in low- and middle-income countries, including sub-Saharan Africa. The experience of the MRC-ET Advanced Laboratory in Ethiopia highlights the increasing demand for genetic testing in the region, with postnatal samples showing a high prevalence of multiple congenital anomalies, disorders of sex development, and Obstetrics/Gynecology.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Multidisciplinary Sciences
Shane C. Quinonez, Bridget C. O'Connor, Michelle F. Jacobs, Atnafu Mekonnen Tekleab, Ayalew Marye, Delayehu Bekele, Beverly M. Yashar, Erika Hanson, Abate Yeshidinber, Getahun Wedaje
Summary: Non-communicable diseases have been steadily increasing as a cause of disability and mortality globally, while the disease burden from communicable, maternal, neonatal and nutritional conditions has decreased. Congenital anomalies have become the fifth leading cause of under-five mortality worldwide, highlighting the need for genetic counseling services to address these issues.
Article
Genetics & Heredity
Michelle F. Jacobs, Erika S. Koeppe, Colby L. Chase, Julia Martinez, Marie-Louise Henry, Jenae M. Osborne, Elena M. Stoffel, Shane C. Quinonez
Summary: Cascade testing, a specific genetic testing method for relatives with inherited conditions, is not widely utilized. We implemented a dedicated clinic model to improve access, decrease wait times, and optimize clinician efficiency for patients seeking cascade testing. The results showed that the clinic significantly shortened wait times, reduced patient drop-off, and improved clinician efficiency.
JOURNAL OF GENETIC COUNSELING
(2023)