Article
Dentistry, Oral Surgery & Medicine
Sara Feghali, Brigitte Vi-Fane, Arnaud Picard, Natacha Kadlub
Summary: This study aimed to describe the dental and orthodontic management of Nevoid Basal Cell Carcinoma Syndrome (NBCS) and assess the impact of surgery on facial growth and oral development. Findings showed that patients developed multiple OKTs with high recurrence rates, requiring dental and orthodontic treatments for healthy oral management.
JOURNAL OF STOMATOLOGY ORAL AND MAXILLOFACIAL SURGERY
(2022)
Article
Pathology
Melvin A. Ambele, Liam Robinson, Marlene B. van Heerden, Michael S. Pepper, Willie F. P. van Heerden
Summary: This study identified common and distinct genetic alterations in two groups of odontogenic keratocysts (OKCs), which may have implications for molecular diagnosis and patient management. These findings need to be validated in larger samples of cysts.
Article
Oncology
Laura Eibenschutz, Silvia Caputo, Emanuela Camera, Anna Carbone, Vitaliano Silipo, Emilia Migliano, Caterina Aurizi, Carlo Cota, Pasquale Frascione, Barbara Bellei
Summary: Nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder that predisposes individuals to basal cell carcinoma (BCC) due to mutations in genes related to the Hedgehog (Hh) pathway. Somatic mutations in this pathway are associated with sporadic BCC, and targeting this pathway with drugs like vismodegib and sonidegib could potentially be a therapeutic option. These drugs impact fibroblast functions supporting tumor growth and could be considered for BCC therapy regardless of the mutation status of Hh components in neoplastic cells.
Article
Dentistry, Oral Surgery & Medicine
Angela Castillo-Tobar, Blanca Urzua, Victor Tirreau, Francisca Donoso, Jorge Pinares, Rodrigo Cosmelli-Maturana, Ana Ortega-Pinto
Summary: In this study, the clinical, radiographic, histopathologic, and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome were analyzed. The results showed that all the affected patients had odontogenic keratocyst and palmar pits, but basal cell carcinomas were only present in the adult patients.
Article
Multidisciplinary Sciences
Boram Kim, Man Jin Kim, Keunyoung Hur, Seong Jin Jo, Jung Min Ko, Sung Sup Park, Moon-Woo Seong, Je-Ho Mun
Summary: Nevoid basal cell carcinoma syndrome (NBCCS) in Korean patients is mainly caused by pathogenic variants in the PTCH1 gene. The number of BCCs increases with age, highlighting the importance of regular dermatologic examinations. Genetic screening should be considered as part of the diagnostic criteria for NBCCS.
SCIENTIFIC REPORTS
(2021)
Review
Dentistry, Oral Surgery & Medicine
Eleni-Marina Kalogirou, Grigorios Thermos, Vasileios Zogopoulos, Spyros Foutadakis, Ioannis Michalopoulos, Marios Agelopoulos, Konstantinos I. Tosios
Summary: This systematic review and meta-analysis showed that while several immunohistochemical markers may characterize the OKC phenotype, they are not able to distinguish between BCNS-associated and sporadic OKCs. Bias risk was found to be high in 34 studies, moderate in 22, and low in 15.
CLINICAL ORAL INVESTIGATIONS
(2021)
Article
Dermatology
Yan Jing Chen, Qin Yi, Yi Ming Li, Li Li
Summary: NBCCS is a rare genetic disease characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts, and palmar and/or plantar pits. Diagnosis is mainly based on skin biopsy and imaging studies, and ALA-PDT has been proven effective in treating NBCCS.
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
(2021)
Article
Dermatology
Ijeuru Chikeka, Li-Wei Chang, Mary-Katherine Collins, Melissa Pugliano, Jonhan Ho, Nancy House, Viktoryia Kazlouskaya
Summary: Basaloid follicular hamartoma (BFH) is a rare benign follicular neoplasm presenting as papules on the face, scalp, and trunk. It consists of basaloid cells forming cystic structures and should be differentiated from basal cell carcinoma. BFH is often associated with NBCCS, showing clinical, histopathologic, and genetic overlap.
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2022)
Review
Oncology
Eun Kyung Ko, Brian C. Capell
Summary: Although the underlying mechanisms of skin cancers like keratinocyte cancers are still emerging, recent evidence suggests that alterations in DNA, RNA, and histone methylation may play a critical role in disrupting gene expression. While methylation modifiers are frequently dysregulated in keratinocyte cancers, the molecular and mechanistic changes are just beginning to be understood, with extensive cross-talk among these distinct methylation processes. These discoveries may lead to novel therapeutic approaches for these common cancers.
Article
Dermatology
Marcial Alvarez-Salafranca, Mar Garcia-Garcia, Andrea Montes-Torres, Ignacio Rivera-Fuertes, Maria Teresa Lopez-Gimenez, Mariano Ara
Summary: Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by aberrant activation of the hedgehog (Hh) pathway, primarily caused by PTCH1 mutations. However, certain features such as multiple hereditary infundibulocystic basal cell carcinomas (MHIBCC), sclerotic fibromas, childhood medulloblastoma or meningioma may be specific to a SUFU mutation. Two patients with MHIBCC and a complex cutaneous and extracutaneous phenotype are presented. MHIBCC syndrome and BCNS may have shared clinical features, as both syndromes likely involve upregulation of the Hh pathway.
AUSTRALASIAN JOURNAL OF DERMATOLOGY
(2023)
Review
Dentistry, Oral Surgery & Medicine
Fadi Titinchi
Summary: This study aimed to identify features associated with recurrence of odontogenic keratocysts (OKCs) and formulate a risk stratification based on these findings. Factors such as age, size, lesion characteristics, and immunohistochemical markers were found to be significantly associated with OKC recurrence, providing valuable information for clinicians in diagnosis and management to prevent recurrences.
Article
Medicine, General & Internal
Yisia Olivero, Jonathan Otero-Colon, Samin Rahman, Brandon Grodman, Vilma Vas
Summary: To date, there is no definite effective target therapy or cure for nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome). Basal cell carcinoma is frequently the far most increased risk of this syndrome, including predisposition to other malignancies. In 2015, an 11-year-old female with a past medical history of sickle cell trait, oral, and unilateral knee abscesses presented with multiple visits for various nodules covering the hands and chest, as well as posterior knee cysts. Genetic testing confirmed the diagnosis. The key to treatment and surveillance relies on appropriate recognition, management of atypical presentations, and offering appropriate genetic counseling to families.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Review
Biochemistry & Molecular Biology
Alieh Farshbaf, Reza Zare, Farnaz Mohajertehran, Nooshin Mohtasham
Summary: Odontogenic tumors are complex heterogeneous lesions with varying behavior and histology, and their etiology remains unclear. Immunohistochemical and molecular markers aid in diagnosis, but lack specificity and sensitivity, while gene expression analysis provides definitive confirmation. -omics technology detects specific molecular alterations associated with etiology, offering potential for therapeutic approaches.
MOLECULAR BIOLOGY REPORTS
(2021)
Editorial Material
Medicine, General & Internal
Sohshi Morimura, Yasuhiko Tomita, Shinichi Ansai, Makoto Sugaya
Summary: Nevus sebaceus is a benign tumor present at birth, often found on the scalp or face. Malignant tumors can occur in adulthood.
Article
Biochemistry & Molecular Biology
Kirsten Ackermann, Susanne Wallner, Christoph Brochhausen, Stephan Schreml
Summary: The study investigated the expression profiles of ASIC1, ASIC2, TRPV1 and TRPV4 in different skin tumors, revealing that BCCs often do not express ASIC2, while almost all SCCs express this marker; in MM, the epidermal portion sometimes lacks ASIC1, while the dermal portion more frequently expresses TRPV1; some NCNs show decreased ASIC1/2 expression in deeper tissues, while MM does not lose ASIC1/2 in deeper dermal portions. The findings suggest that ASIC1, ASIC2, TRPV1 and TRPV4 in skin tumors may play a role in tumor progression and could be potential diagnostic and therapeutic targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Mayuri Ito, Akemi Yamauchi, Mari Urano, Tamaki Kato, Mari Matsuo, Kenji Nakashima, Kayoko Saito
Summary: This study conducted a nationwide epidemiological survey of spinal muscular atrophy (SMA) in Japan, revealing a prevalence and incidence rates of the disease. It emphasized the importance of infantile onset cases and the need for newborn screening and prompt treatment to save lives.
BRAIN & DEVELOPMENT
(2022)
Article
Genetics & Heredity
Takashi Nakajima, Yoshiyuki Sankai, Shinjiro Takata, Yoko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, Chiho Ishida, Akira Tamaoka, Takako Saotome, Tetsuo Ikai, Hisako Endo, Kazuhiro Ishii, Mitsuya Morita, Takashi Maeno, Kiyonobu Komai, Tetsuhiko Ikeda, Yuka Ishikawa, Shinichiro Maeshima, Masashi Aoki, Michiya Ito, Tatsuya Mima, Toshihiko Miura, Jun Matsuda, Yumiko Kawaguchi, Tomohiro Hayashi, Masahiro Shingu, Hiroaki Kawamoto
Summary: The study evaluated the efficacy and safety of cybernic treatment with a wearable cyborg Hybrid Assistive Limb (HAL) in improving ambulatory function in patients with rare neuromuscular diseases. Results showed that HAL treatment significantly improved walking distance and muscle strength in patients, with only mild adverse effects observed.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Editorial Material
Pediatrics
Rina Shimomura, Susumu Ito, Naohiro Kurotaki, Kayoko Saito, Satoru Nagata
PEDIATRICS INTERNATIONAL
(2022)
Article
Clinical Neurology
Theerawat Kumutpongpanich, Masashi Ogasawara, Ayami Ozaki, Hiroyuki Ishiura, Shoji Tsuji, Narihiro Minami, Shinichiro Hayashi, Satoru Noguchi, Aritoshi Iida, Ichizo Nishino
Summary: This study identified OPDM_LRP12 as the most common OPDM subtype in Japan, characterized by oculopharyngeal weakness, distal myopathy affecting the soleus and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy samples.
Article
Clinical Neurology
Eugenio Mercuri, Nicolas Deconinck, Elena S. Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S. Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W. Day
Summary: Risdiplam has shown significant improvement in motor function compared to placebo in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Motor function generally improved in younger patients and stabilized in older patients.
Meeting Abstract
Clinical Neurology
L. Servais, D. De Vivo, J. Kirschner, E. Mercuri, F. Muntoni, E. Tizzano, S. Roy, K. Saito, M. Menier, N. LaMarca, F. Anderson, O. Dabbous, R. Finkel
NEUROMUSCULAR DISORDERS
(2021)
Meeting Abstract
Clinical Neurology
L. Servais, J. Day, D. De Vivo, E. Mercuri, F. Muntoni, P. Shieh, E. Tizzano, I. Desguerre, K. Saito, M. Menier, N. LaMarca, F. Anderson, O. Dabbous, R. Finkel
NEUROMUSCULAR DISORDERS
(2021)
Meeting Abstract
Clinical Neurology
L. Servais, D. De Vivo, J. Kirschner, E. Mercuri, F. Muntoni, E. Tizzano, S. Roy, K. Saito, M. Menier, N. LaMarca, F. Anderson, O. Dabbous, R. Finkel
NEUROMUSCULAR DISORDERS
(2021)
Meeting Abstract
Clinical Neurology
K. Strauss, F. Muntoni, M. Farrar, K. Saito, J. Mendell, L. Servais, H. McMillan, K. Swoboda, J. Kwon, C. Zaidman, C. Chiriboga, S. Iannaccone, J. Krueger, J. Parsons, P. Shieh, S. Kavanagh, D. Chand, S. Tauscher-Wisniewski, T. Macek
NEUROMUSCULAR DISORDERS
(2021)
Meeting Abstract
Clinical Neurology
A. Nascimento, J. Day, N. Deconinck, E. Mazzone, M. Oskoui, K. Saito, C. Vuillerot, G. Baranello, O. Boespflug-Tanguy, N. Goemans, J. Kirschner, A. Kostera-Pruszczyk, L. Servais, M. Gerber, K. Gorni, C. Martin, R. Scalco, H. Staunton, W. Yeung, E. Mercuri
NEUROMUSCULAR DISORDERS
(2021)
Article
Multidisciplinary Sciences
Masato Maekawa, Terumi Taniguchi, Kazuto Nishio, Kazuko Sakai, Kazuyuki Matsushita, Kaname Nakatani, Takayuki Ishige, Makoto Ikejiri, Hiroshi Nishihara, Kuniko Sunami, Yasushi Yatabe, Kanako C. Hatanaka, Yutaka Hatanaka, Yoshihiro Yamamoto, Keita Fukuyama, Shinya Oda, Kayoko Saito, Mamoru Yokomura, Yuji Kubo, Hiroko Sato, Yoshinori Tanaka, Misa Fuchioka, Tadashi Yamasaki, Koichiro Matsuda, Kiyotaka Kurachi, Kazuhiro Funai, Satoshi Baba, Moriya Iwaizumi
Summary: This study investigated the quality of next-generation sequencing platforms and cancer genome testing in Japanese laboratories through pilot proficiency testing using patient samples. The results showed that most laboratories were able to identify pathogenic variants, but there were still some issues that need improvement. This study is important for enhancing domestic cancer genome testing.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: Onasemnogene abeparvovec was effective and well tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: SPR1NT (NCT03505099) is a Phase III study investigating the efficacy and safety of onasemnogene abeparvovec in presymptomatic children with biallelic SMN1 mutations. The results showed that all 14 infants enrolled in the study were able to sit independently for at least 30 seconds within 18 months and none required permanent ventilation. The treatment was well tolerated and effective for children expected to develop SMA type 1.
Article
Clinical Neurology
Maryam Oskoui, John W. Day, Nicolas Deconinck, Elena S. Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S. Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri, SUNFISH Working Grp
Summary: Risdiplam, an oral SMN2 pre-mRNA splicing modifier, has been approved for the treatment of SMA. The SUNFISH Part 2 study demonstrated the efficacy and safety of risdiplam in type 2 and non-ambulant type 3 SMA. After 12 months of treatment, motor function improvements were maintained or further improved upon at month 24.
JOURNAL OF NEUROLOGY
(2023)
Correction
Clinical Neurology
Maryam W. Oskoui, John Day, Nicolas S. Deconinck, Elena Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy S. McIver, Renata Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri
JOURNAL OF NEUROLOGY
(2023)
