Article
Clinical Neurology
Chenmin He, Lingqi Ye, Cong Chen, Lingli Hu, Bo Jin, Yao Ding, Hong Li, Meiping Ding, Shan Wang, Shuang Wang
Summary: This study found that hippocampal malrotation (HIMAL) is common in patients with epilepsy caused by focal cortical dysplasia (FCD) as well as in healthy controls, but it may be less significant in FCD-related epilepsy.
FRONTIERS IN NEUROLOGY
(2022)
Article
Dermatology
Qiaoyu Cao, Shuai Zhang, Jianbo Wang, Yumeng Wang, Chaolan Pan, Xinyi Wang, Anqi Zhao, Xiao Chen, Pingping Qin, Shoumin Zhang, Zhirong Yao, Dong Lv, Yali Yang, Ming Li
Summary: This study collected DNA samples from a Chinese family affected by FFDD and found no mutation of TWSIT2. The study identified a copy number variant in chromosome 1 as the underlying genetic cause of SS and narrowed down the CNV region to eight genes.
JOURNAL OF DERMATOLOGY
(2022)
Article
Clinical Neurology
Roland Coras, Hans Holthausen, Harvey B. Sarnat
Summary: The ILAE classification of Focal Cortical Dysplasia (FCD) from 2011 has been widely accepted and used, particularly focusing on three subtypes where FCD Type 2 has been validated extensively compared to Type 1 and Type 3. Further research is needed to provide comprehensive clinico-pathological specifications for FCD Type 1B and 1C as well as to establish a valid animal model for FCD Type 1.
Article
Pediatrics
Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi
Summary: Desbuquois dysplasia type 2 is a rare dysplasia with diverse symptoms. This study reported a case of a Iranian fetus with compound heterozygous XYLT1 mutations, one of which is novel. This finding further supports the high heterogeneity of the disease.
Article
Clinical Neurology
Bo Jin, Zheyu Zhang, Chao Wang, Hong Li, Xiaoyu Zhao, Shan Wang, Cong Chen, Chenmin He, Yang Zheng, Yu Geng, Shuang Wang, Guihua Chen, Thandar Aung
Summary: This study investigated the variations in the thalamocortical circuitry between focal cortical dysplasia (FCD) type II patients with sleep-related epilepsy (SRE) and those without SRE. The results showed that SRE patients had smaller lesion size and significantly decreased fractional anisotropy (FA) in thalamocortical projections to the lesion region. The findings suggest a potential link between the underlying pathophysiology or neuroanatomical substrates of SRE and FCD type II.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Genetics & Heredity
Rachel Youjin Oh, Kathy Chun, Paul. E. E. Kowalski, David Chitayat
Summary: Setleis syndrome (SS) is caused by TWIST2 gene mutations and characterized by bitemporal atrophic skin lesions and distinctive facial features. Duplication of the chromosomal region 1p36.22p36.21 is also associated with the SS phenotype, along with neurodevelopmental challenges. We report a 2-year-old female patient with a de novo 3.603 Mb triplication at 1p36.23p36.22, which shares a 281.263 kb overlap with previously reported gains at 1p36.22 and highlights candidate dosage-sensitive elements underlying SS phenotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Orthopedics
Kaveh Gharanizadeh, Mani Mahmoudi, Farshid Shiva, Mohammad Ghazavi, Mansour Abolghasemian
Summary: This study compared the lower limb length and alignment in patients with unilateral high-riding developmental dysplasia of the hip using the EOS imaging system. The results showed that except for the length of the tibia, other parameters related to the femur and fibula may be shorter, equal, or longer on the dislocated side compared to the normal side. Therefore, preoperative planning for Crowe Type IV hip dysplasia should not rely solely on AP pelvic radiographs, but should incorporate individualized planning using full-length images of the lower limbs.
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
(2023)
Article
Medicine, Research & Experimental
Shiwei Li, Liangcai He, Xiaodong Yang
Summary: This case report describes a rare focal fibrocartilaginous dysplasia lesion that was surgically excised using piezosurgery. After 18 months, the final examination showed normal clinical and radiographic features. This is the first case cured with piezosurgery and the first case to report sequestrum through biopsy.
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Isabella C. Galvao, Ludmyla Kandratavicius, Lauana A. Messias, Maria C. P. Athie, Guilherme R. Assis-Mendonca, Marina K. M. Alvim, Enrico Ghizoni, Helder Tedeschi, Clarissa L. Yasuda, Fernando Cendes, Andre S. Vieira, Fabio Rogerio, Iscia Lopes-Cendes, Diogo F. T. Veiga
Summary: This study analyzed the cellular composition of brain lesions in patients with FCD IIa and IIb subtypes using cell-type deconvolution and single-cell signatures. The findings revealed differential neuronal and glial compositions in FCD II subtypes, with astrogliosis emerging as a hallmark of FCD IIb. These findings offer novel insights into the involvement of glial cells in FCD type II pathophysiology and may contribute to the development of targeted therapies for this condition.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Dominik S. Westphal, Elisa Mastantuono, Heide Seidel, Korbinian M. Riedhammer, Andreas Hahn, Katharina Vill, Matias Wagner
Summary: Pathogenic variants in TAB2 can cause both isolated and syndromic congenital heart disease with connective tissue abnormalities. However, predicting the clinical outcome of patients remains challenging.
Article
Agronomy
Bohong Su, Yong Guo, Zhongfeng Li, Huawei Gao, Zhongyan Wei, Lijuan Qiu
Summary: The soybean mutant it1 has a compact plant architecture, reduced plant height, shortened petioles, wrinkled leaves, and indented seeds, which is caused by a mutation in the α-tubulin gene.
Article
Clinical Neurology
Till S. Zimmer, Diede W. M. Broekaart, Mark Luinenburg, Caroline Mijnsbergen, Jasper J. Anink, Nam Suk Sim, Iliana Michailidou, Floor E. Jansen, Peter C. van Rijen, Jeong Ho Lee, Liesbeth Francois, Jonathan van Eyll, Stefanie Dedeurwaerdere, Erwin A. van Vliet, Angelika Muhlebner, James D. Mills, Eleonora Aronica
Summary: The study found that FCD 2b patients exhibited stronger expression of immune system components compared to FCD 2a patients, especially in complement activation and antigen presentation. Immunohistochemical analysis further confirmed these findings, showing strong expression of leukocyte antigen I and II in FCD 2b.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Ariane Lewis, Steven Galetta
Summary: In their research article, Chassoux et al. conducted a retrospective review on 60 patients with focal cortical dysplasia type 2 (FCD2) in the central region who underwent surgical resection. They found that 88% of patients achieved seizure freedom after surgery, and although 87% experienced early transitory postoperative deficits, 40% of them fully recovered. It was also observed that patients with FCD2 can have preoperative and postoperative neurologic deficits, and some patients showed improvement after surgery.
Article
Clinical Neurology
Emma Macdonald-Laurs, Aaron E. L. Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J. Lockhart, Richard J. Leventer, Andrew Neal, A. Simon Harvey
Summary: The distribution of epileptogenicity and dysplasia in and around bottom-of-sulcus dysplasia (BOSD) was assessed to better understand the clinical outcome and optimal surgical approach. The study found that dysplasia and intrinsic epileptogenicity are mostly limited to the dysplastic sulcus, and abnormalities in surrounding cortex are secondary phenomena.
Article
Neurosciences
Zohreh Ganji, Mohsen Aghaee Hakak, Seyed Amir Zamanpour, Hoda Zare
Summary: Focal cortical dysplasia (FCD) is a major cause of drug-resistant epilepsy, and a computer-aided diagnostic system for FCD lesions can improve diagnosis accuracy, providing significant implications for patient surgical treatment and recovery.
FRONTIERS IN HUMAN NEUROSCIENCE
(2021)
Article
Hematology
Joonhee Park, Jay Daniels, Tim Wartewig, Kimberly G. Ringbloom, Maria Estela Martinez-Escala, Sara Choi, Jane J. Thomas, Peter G. Doukas, Jingyi Yang, Caroline Snowden, Calvin Law, Yujin Lee, Katie Lee, Yancong Zhang, Carly Conran, Kyle Tegtmeyer, Samuel H. Mo, David R. Pease, Balaji Jothishankar, Pui-Yan Kwok, Farah R. Abdulla, Barbara Pro, Abner Louissaint, Titus J. Boggon, Jeffrey Sosman, Joan Guitart, Deepak Rao, Juergen Ruland, Jaehyuk Choi
Summary: The study identified 86 putative driver genes in CTCL, including 19 genes not previously implicated in the disease and two mutations never described in any cancer. Functional assays revealed that these mutations enhance T-cell receptor-dependent proliferation, highlighting their importance in lymphomagenesis. Investigations into genetic causes of CTCL heterogeneity found that while there are broad similarities across disease stages, there are significantly more structural variants in leukemic disease, leading to highly recurrent deletions of putative tumor suppressors.
Letter
Dermatology
Olivia M. T. Davies, Maria C. Garzon, Ilona J. Frieden, Catherine E. Cottrell, Karen W. Gripp, Russell P. Saneto, Tor Shwayder, Ghayda M. Mizaa, Beth A. Drolet
Summary: This article mainly focuses on surgical treatment for male genital tumors, including local recurrence rates and a review of cases. It also explores the surgical treatment and reconstruction for genital skin cancer, as well as the surgical treatment and outcomes of patients with extramammary Paget's disease.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2022)
Article
Psychiatry
Lawrence Shih-Hsin Wu, Ming-Chyi Huang, Cathy Shen-Jang Fann, Hsien-Yuan Lane, Chian-Jue Kuo, Wei-Che Chiu, Pui-Yan Kwok, Andrew Tai-Ann Cheng
Summary: The study conducted a genome-wide association study for early-onset bipolar I disorder in patients of Han Chinese descent, revealing an association between the SNP rs11127876 in the intron of CADM2 gene and early-onset BPI.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Psychiatry
Ruin Moaddel, Panos Zanos, Cristan A. Farmer, Bashkim Kadriu, Patrick J. Morris, Jacqueline Lovett, Elia E. Acevedo-Diaz, Grace W. Cavanaugh, Peixiong Yuan, Mani Yavi, Craig J. Thomas, Lawrence T. Park, Luigi Ferrucci, Todd D. Gould, Carlos A. Zarate
Summary: Subanesthetic-dose ketamine has rapid and sustained antidepressant effects, and its metabolite (2 R,6 R)-HNK also exhibits similar effects. Metabolomic analysis reveals the involvement of inflammatory pathways in the effects of ketamine and (2 R,6 R)-HNK, with potential differences between mice and humans.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Dermatology
Nicole W. Kittler, Ilona J. Frieden, Katrina Abuabara, Dawn H. Siegel, Kimberly A. Horii, Erin F. Mathes, Francine Blei, Anita N. Haggstrom, Jenna L. Streicher, Denise W. Metry, Maria C. Garzon, Kimberly D. Morel, Christine T. Lauren, Marcia Hogeling, Esteban Fernandez Faith, Eulalia Baselga, Megha M. Tollefson, Brandon D. Newell, Catherine C. McCuaig, Anthony J. Mancini, Sarah L. Chamlin, Emily M. Becker, Maria L. Cossio, Sonal D. Shah
Summary: The study found that during the COVID-19 pandemic, hemangioma specialists utilized telemedicine for evaluating and managing IH with high confidence, mostly through video or audio communication with photographs. Providers preferred follow-up modalities that included photographs, and the data suggest that telemedicine can effectively manage IH and potentially reduce wait times.
PEDIATRIC DERMATOLOGY
(2022)
Article
Dermatology
Olivia M. T. Davies, Ashley T. Ng, Jennifer Tran, Shoshana Blumenthal, Lisa M. Arkin, Amy J. Nopper, Catherine E. Cottrell, Maria Garzon, Dawn H. Siegel, Ilona J. Frieden, Beth A. Drolet
Summary: This study reports five patients with early-onset hypertension and extensive cutaneous capillary malformations (CMs), and discusses possible mechanisms driving hypertension. The study recommends serial blood pressure measurements in patients with extensive CMs on the trunk and extremities to screen for early-onset hypertension.
PEDIATRIC DERMATOLOGY
(2022)
Article
Dermatology
Esteban Fernandez Faith, Sonal D. Shah, Mitchell Braun, Elena Pope, Irene Lara-Corrales, Patricia M. Witman, Katya Harfmann, Flora Bradley, Rohali Keesari, Kenneth Jackson, Alexandra Hallagan, Ilona J. Frieden
Summary: This retrospective study found that the incidence of ulceration in infantile hemangiomas has decreased compared to previous reports. However, it remains a relatively common complication. Clinical factors associated with ulceration include partial segmental morphology, location in the diaper area, and size greater than 5 cm. Additionally, Black patients were found to have a higher risk of ulceration, potentially due to barriers to care.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2023)
Review
Dermatology
Sonal D. Shah, Erin F. Mathes, Eulalia Baselga, Ilona J. Frieden, Julie Powell, Maria C. Garzon, Kimberly D. Morel, Christine T. Lauren, Anthony J. Mancini, Sarah L. Chamlin, Monica Rios, Lina Belmesk, Catherine C. McCuaig
Summary: This study describes the experience of the Hemangioma Investigator Group with pulsed dye laser (PDL) in treating nonulcerated infantile hemangioma (IH) in pediatric patients. The results show that PDL is a useful tool in the treatment of IH, with significant improvement in telangiectasia and erythema and low risk of complications.
PEDIATRIC DERMATOLOGY
(2023)
Article
Oncology
Elissa R. Engel, Adrienne Hammill, Denise Adams, Roderic J. Phillips, Michael Jeng, Megha M. Tollefson, Ionela Iacobas, Deborah Schiff, Shoshana Greenberger, Michael Kelly, Ilona Frieden, Nibal Zaghloul, Beth Drolet, Amy Geddis, Dov Goldenberg, Kiersten Ricci
Summary: Sirolimus therapy is safe and effective in reducing complications and improving quality of life in patients with capillary lymphatic venous malformations and associated syndromes.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Dermatology
Christine Leaute-Labreze, Ilona Frieden, Alain Delarue
Summary: Early referral and treatment of infantile hemangioma is challenging, and there is a lack of data on the optimal timing for initiating treatment with oral propranolol. This study found that starting oral propranolol before 10 weeks of age was associated with a significantly higher treatment success rate of 86%, compared to a success rate of 60% when starting treatment after 10 weeks of age.
PEDIATRIC DERMATOLOGY
(2023)
Letter
Oncology
Ilona J. J. Frieden, Anthony J. J. Mancini, Francine Blei, David H. Darrow, Daniel P. P. Krowchuk
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2023)
Article
Medicine, Research & Experimental
Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O'Connor, Erin Pinto, Jessica R. C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson
Summary: Central conducting lymphatic anomaly (CCLA), a debilitating and potentially life-threatening disease, can be caused by congenital maldevelopment of the lymphatics. Through studying individuals with CCLA and microcystic lymphatic malformation, researchers identified pathogenic KRAS variants, which activate the RAS/MAPK pathway. Using cell and animal models, they found that MEK inhibition could effectively reduce lymphatic dysplasia and edema. These findings suggest that MEK inhibition should be further investigated as a targeted therapy for CCLA caused by activating KRAS pathogenic variants.
Article
Oncology
Beth Apsel Winger, Walter Patrick Devine, Edward C. Hsiao, Matthew Zapala, Jessica Van Ziffle, Nalin Gupta, Ilona J. Frieden, Kristin A. Shimano
Summary: Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA) are subtypes of complex lymphatic malformations (CLMs) with osseous involvement. Somatic mosaic mutations in oncogenes are often present, and targeted therapies such as mTOR inhibitors may alleviate symptoms in some patients. The discovery of EML4::ALK fusions in two patients with GSD and GLA suggests additional targeted therapies could be effective.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Oncology
Ifeoma U. Perkins, Serena Y. Tan, Timothy H. McCalmont, Pauline M. Chou, Thaddeus W. Mully, Pedram Gerami, Jason H. Pomerantz, Miguel Reyes-Mugica, Daniel M. Balkin, Lacey L. Kruse, Benjamin Huang, Jennifer L. Reichek, Noopur Gangopadhyay, Simon Chiosea, Jared R. Green, Sarah L. Chamlin, Ilona J. Frieden, Boris C. Bastian, Iwei Yeh
Summary: We report the first cases of pediatric melanoma with ALK fusion gene arising within giant congenital melanocytic nevi. Two newborn boys presented with large pigmented nodular plaques and numerous smaller satellite nevi. Instead of NRAS and BRAF mutations, oncogenic ZEB2::ALK fusion genes were identified in both the nevus and melanoma developing within the nevus, suggesting a more aggressive behavior.
PIGMENT CELL & MELANOMA RESEARCH
(2023)
Article
Dermatology
Keemberly Kim, Sampreet Reddy, Lindsay J. Osborn, Ilona C. Frieden, Kelly W. Nelson, Matilda E. Nicholas, Elizabeth Bailey, Meghan Dickman
Summary: High-quality clinical photography is essential in dermatology for patient evaluation, clinical teaching, and research. Though smartphones have made photography more accessible, there are challenges in obtaining quality photos. This guide proposes best practices for image capture to improve patient care and integrate high-quality photography into routine clinical practice.
ARCHIVES OF DERMATOLOGICAL RESEARCH
(2023)