Article
Genetics & Heredity
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Summary: Patients with MOPDII exhibit systemic vascular pathologies and various comorbidities, diagnosed at a young age, requiring close monitoring of blood pressure, and consideration for cardiac and renal vascular screenings.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Biochemistry & Molecular Biology
Flaviana Marzano, Matteo Chiara, Arianna Consiglio, Gabriele D'Amato, Mattia Gentile, Valentina Mirabelli, Maria Piane, Camilla Savio, Marco Fabiani, Domenica D'Elia, Elisabetta Sbisa, Gioacchino Scarano, Fortunato Lonardo, Apollonia Tullo, Graziano Pesole, Maria Felicia Faienza
Summary: In this study, RNA sequencing and exome sequencing were performed on three MOPDII patients. Downregulation of key growth factors and identification of deleterious variants associated with the disease were observed. These results suggest that NGS technologies can be successfully used for molecular characterization of MOPDII's complex genotypic background.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Thu Hien Nguyen, Ngoc-Lan Nguyen, Chi Dung Vu, Can Thi Bich Ngoc, Ngoc Khanh Nguyen, Huy Hoang Nguyen
Summary: Mutations in three novel variants in the PCNT gene were identified in two Vietnamese patients with primordial dwarfism, leading to deficient protein functional activity and resulting in the disease phenotype. Clinical presentations combined with genetic analyses supported an accurate diagnosis of microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in these two patients, with implications for prenatal genetic screening and genetic counseling for families.
Article
Clinical Neurology
Florian Connolly, Joan Alsolivany, Marcus Czabanka, Peter Vajkoczy, Jose M. Valdueza, Jens E. Roehl, Eberhard Siebert, Leon A. Danyel
Summary: The study analyzed 50 STA-MCA bypasses in 39 patients and found that duplex sonography is a suitable diagnostic tool to assess bypass function in moyamoya disease. Hemodynamic monitoring of the STA by US provides an excellent predictor of bypass patency.
JOURNAL OF NEUROSURGERY
(2021)
Article
Genetics & Heredity
D. Hettiarachchi, S. M. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
Summary: We report a novel frameshift variant in the PCNT gene and describe a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II.
BMC MEDICAL GENOMICS
(2022)
Article
Medicine, General & Internal
Aurora Eslava, Montserrat Garcia-Puig, Raquel Corripio
Summary: This case report presents a Syrian boy diagnosed with moyamoya syndrome and MOPD II. The diagnosis was confirmed through various tests, highlighting the importance of identifying the cause of short stature and genetic syndromes associated with other abnormalities. The multidisciplinary approach to management was initiated based on the diagnosis of MOPD II associated with moyamoya syndrome by cerebrovascular imaging.
AMERICAN JOURNAL OF CASE REPORTS
(2021)
Article
Endocrinology & Metabolism
Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street
Summary: We report the case of a 3-year-old boy with severe growth failure, intellectual disability, microcephaly, skeletal anomalies, and kidney and liver abnormalities. Genetic analysis revealed a novel homozygous pathogenic variant in the PCNT gene. The boy died at 8 years of age due to intracranial hemorrhage associated with Moyamoya malformation. Early detection of intracranial and kidney anomalies is crucial for the management of patients with microcephalic osteodysplastic primordial dwarfism type II (MOPDII).
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Clinical Neurology
Ho Sung Myeong, Kangmin Kim, Sung Ho Lee, Dong Hyun Yoo, Young Dae Cho, Won-Sang Cho, Hyun-Seung Kang, Jeong Eun Kim
Summary: This study explored the relationship between aneurysms in adult moyamoya disease patients and future stroke events. The presence of collateral pathway aneurysms was found to be a significant risk factor for hemorrhagic strokes, while less hemorrhaging was observed in MMD patients with hypertension.
WORLD NEUROSURGERY
(2022)
Article
Clinical Neurology
Haogeng Sun, Rui Tian, Zhiyuan Yu, Anqi Xiao, Chao You, Yi Liu
Summary: This study found that patients with MMD with IAs have different clinical and hemodynamic features compared to patients with MMD without IAs. CoW aneurysms and peripheral aneurysms may occur at different stages of MMD, leading to differences in anatomical location, type of hemorrhage, and treatment strategy.
WORLD NEUROSURGERY
(2021)
Article
Medicine, General & Internal
Fadi Busaleh, Haider Alnofaily, Hussain A. Al Ghadeer, Fatimah A. Albahrani, Hibah A. Alatiyyah, Salwa B. Alshaikh, Ahmed M. Alhamrani, Walaa Hassan, Jumanah Alatiya, Jawad Alnaqaa
Summary: Microcephalic primordial dwarfism is a group of disorders that lead to growth restriction and multiple morbidities, with MOPDII being the most prevalent subtype. Only a few cases have been reported globally, with information about these disorders only available in literature.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Clinical Neurology
Bart M. W. Cornelissen, Eva L. Leemans, Cornelis H. Slump, Rene van den Berg, Henk A. Marquering, Charles B. L. M. Majoie
Summary: This study investigates how hemodynamic characteristics change over the course of aneurysm growth. They found that wall shear stress values generally decrease after growth, but there is significant variability in hemodynamic changes between aneurysms.
JOURNAL OF NEUROSURGERY
(2022)
Article
Clinical Neurology
Ephraim W. Church, Rabia Qaiser, Teresa E. Bell-Stephens, Mark G. Bigder, Eric K. Chow, Summer S. Han, Yasser Y. El-Sayed, Gary K. Steinberg
Summary: An in-depth study on Moyamoya disease (MMD) patients who underwent cerebral revascularization and later became pregnant showed low complication rates and no major strokes among post-bypass pregnant patients. The overall rate of obstetric complications was also low. Collaborative efforts between vascular neurosurgeons and obstetricians are recommended for managing these patients effectively.
JOURNAL OF NEUROSURGERY
(2021)
Review
Neuroimaging
Andre Monteiro, Gustavo M. Cortez, Manuel F. Granja, Guilherme J. Agnoletto, Julia Kranich, Marcus Vinicius R. Padilha, Philipp Aldana, Ricardo Hanel
Summary: Microcephalic primordial dwarfism (MPD) is a rare disorder, and a significant percentage of patients with MPD are reported to have cerebrovascular abnormalities such as intracranial aneurysms (IAs) and moyamoya syndrome. This systematic review aimed to assess the clinical behavior, characteristics, treatment modalities, and outcomes of IAs in patients with MPD. Efforts in the literature to emphasize early and regular screening for these patients can positively impact outcomes in this population.
JOURNAL OF NEUROINTERVENTIONAL SURGERY
(2021)
Article
Clinical Neurology
Khaled Krisht, Jose Manuel Orenday-Barraza, Hassan Saad, Ali F. Krisht
Summary: This study introduces a novel suturing technique for STA-MCA bypass, which reduces operative time, improves surgical efficiency, and decreases vessel tissue manipulation. Compared with traditional suturing methods, this technique is safer and more organized.
WORLD NEUROSURGERY
(2021)
Article
Clinical Neurology
Hidetoshi Hagiwara, Hiroshi Matsumoto, Kenji Uematsu, Kiyotaka Zaha, Yujin Sekinaka, Noriko Miyake, Naomichi Matsumoto, Shigeaki Nonoyama
Summary: MOPD I, a rare genetic disorder, is characterized by severe intrauterine growth retardation, microcephaly, brain anomalies, and potential immunodeficiencies. The gene responsible for the disorder encodes small nuclear RNA rather than protein.
BRAIN & DEVELOPMENT
(2021)
Article
Clinical Neurology
Samuel Hall, Ashraf Abouharb, Ian Anderson, Andrew Bacon, Anuj Bahl, Howard Brydon, Graham Dow, Ioannis Fouyas, James Galea, Anthony Ghosh, Nihal Gurusinghe, Mahmoud Kamel, Pawan Minhas, Patrick Mitchell, David Mowle, Nitin Mukerji, Ramesh Nair, John Norris, Hiren Patel, Jash Patel, Krunal Patel, Jerome St George, Mario Teo, Ahmed Toma, Rikin Trivedi, Chris Uff, Anna Visca, Daniel C. Walsh, Edward White, Peter Whitfield, Diederik Bulters
Summary: This study investigated the current practices of surveillance for unruptured intracranial aneurysms (UIA) in the United Kingdom. The results showed significant heterogeneity in surveillance practices between different units, with lack of uniform policies and standards. This study contributes to better understanding the variation in practice among units and provides a framework for further research on aneurysm growth.
BRITISH JOURNAL OF NEUROSURGERY
(2023)
Article
Clinical Neurology
Hugo Layard Horsfall, Danyal Z. Khan, Justin Collins, Stephen Cooke, Simon R. Freeman, Nihal Gurusinghe, Susie Hampton, Carl Hardwidge, Richard Irving, Neil Kitchen, Andrew King, Sherif Khalil, Chan H. Koh, Colin Leonard, Hani J. Marcus, William Muirhead, Rupert Obholzer, Omar Pathmanaban, Iain J. A. Robertson, Jonathan Shapey, Danail Stoyanov, Mario Teo, James R. Tysome, Shakeel R. Saeed, Patrick Grover
Summary: This study presents a codified operative workflow for the retrosigmoid approach to vestibular schwannoma resection, developed through a consensus process involving skull base surgeons. The workflow consists of phases, steps, instruments, technique errors, and event errors, providing a foundation for future research and education in neurosurgery.
JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE
(2023)
Article
Genetics & Heredity
Mercedes Rodriguez Celin, Karen M. Kruger, Angela Caudill, Chaya N. Murali, Sandesh C. S. Nagamani, Peter A. Smith, Gerald F. Harris
Summary: The objective of this study was to examine the pain characteristics and treatments used in individuals with osteogenesis imperfecta (OI) of varying severity and investigate the variables associated with chronic pain. The results showed that chronic pain is prevalent in all types of OI, affecting mobility and interfering with participation. Age, use of a wheelchair, and the number of fractures per year were identified as predictors of chronic pain for all OI types.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Clinical Neurology
Hugo Layard Horsfall, Danyal Z. Khan, Justin Collins, Stephen Cooke, Simon R. Freeman, Nihal Gurusinghe, Susie Hampton, Carl Hardwidge, Richard Irving, Neil Kitchen, Andrew King, Sherif Khalil, Chan H. Koh, Colin Leonard, Hani J. Marcus, William Muirhead, Rupert Obholzer, Omar Pathmanaban, Iain J. A. Robertson, Jonathan Shapey, Danail Stoyanov, Mario Teo, James R. Tysome, Patrick Grover, Shakeel R. Saeed
Summary: This article presents a codified operative workflow for the translabyrinthine approach to vestibular schwannoma resection, including five phases and 57 steps. This workflow can be used for education, training, and understanding of surgical variation, and provides a foundation for future research.
JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE
(2023)
Article
Anesthesiology
Mary C. Theroux, Sabina Dicindio, Lauren W. Averill, Christian Pizarro, Abraham Oommen, Michael B. Bober, Colleen Ditro, Jeffrey Campbell, Angela L. Duker, Taylor Jones, Vandna Passi, Patrick Barth, Richard J. Schmidt, Mary Little, Stuart Mackenzie, Shunji Tomatsu, William G. Mackenzie
Summary: This study found clinically significant tracheal narrowing in patients with Morquio A, and the degree of narrowing likely contributed to difficulties with airway management during anesthesia care. Tracheal narrowing worsens with age, but the progression slows down after 20 years of age. In addition to tracheal narrowing, spirometry values of FEF25%-75% may be helpful in the overall evaluation of the airway in patients with Morquio A.
ANESTHESIA AND ANALGESIA
(2023)
Article
Clinical Neurology
Frederick Ewbank, Samuel Hall, Benjamin Gaastra, Benjamin Fisher, Laura Coe, James Booker, Antony Kaldas, Ian Anderson, Giles Critchley, Mario Teo, Ahmed Toma, Rikin Trivedi, Chris Uff, Raghu Vindlacheruvu, Louise Dulhanty, Mohsen Javadpour, Daniel Walsh, James Galea, Hiren Patel, Diederik Bulters
Summary: Patients over 80 years old with good grade aSAH who underwent aneurysm treatment had better outcomes in terms of functional outcome and survival. However, after adjusting for frailty and comorbidity, there was no significant difference between treatment and non-treatment groups.
BRITISH JOURNAL OF NEUROSURGERY
(2023)
Letter
Immunology
Neha Sirohi, Angela L. Duker, Michael B. Bober, Magee L. DeFelice
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Medicine, Research & Experimental
Oliver Semler, Valerie Cormier-Daire, Ekkehart Lausch, Michael B. Bober, Ricki Carroll, Sergio B. Sousa, David Deyle, Maha Faden, Gabriele Hartmann, Aaron J. Huser, Janet M. Legare, Klaus Mohnike, Tilman R. Rohrer, Frank Rutsch, Pamela Smith, Andre M. Travessa, Angela Verardo, Klane K. White, William R. Wilcox, Julie Hoover-Fong
Summary: This article explores the real-world use of vosoritide and highlights the importance of multidisciplinary support and patient/family education. It also acknowledges regional differences in practices and considerations for vosoritide, including dose monitoring and timing of assessments.
ADVANCES IN THERAPY
(2023)
Article
Engineering, Biomedical
Martin Karl Schneider, James Wang, Aris Kare, Shaunak S. Adkar, Darren Salmi, Caitlin F. Bell, Tom Alsaigh, Dhananjay Wagh, John Coller, Aaron Mayer, Sarah J. Snyder, Alexander D. Borowsky, Steven R. Long, Maarten G. Lansberg, Gary K. Steinberg, Jeremy J. Heit, Nicholas J. Leeper, Katherine W. Ferrara
Summary: The study demonstrates the potential of near-infrared auto-photoacoustic (NIRAPA) imaging in detecting plaque components and differentiating stable and vulnerable plaques. The researchers also developed a methodology to combine molecular imaging with spatial transcriptomic and proteomic methods for a more comprehensive understanding of plaque characteristics.
Article
Endocrinology & Metabolism
Chiara Paganini, Ricki S. Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone, Angela L. Duker, David A. O'Connell, Ryan F. Coghlan, Brian Johnstone, Carlos R. Ferreira, Sabrina Peressini, Riccardo Albertini, Antonella Forlino, Luisa Bonafe, Ana Belinda Campos-Xavier, Andrea Superti-Furga, Andreas Zankl, Antonio Rossi, Michael B. Bober
Summary: Diastrophic dysplasia (DTD) is a genetic disorder caused by pathogenic variants in the SLC26A2 gene, which affects sulfate uptake and glycosaminoglycan (GAG) sulfation. This study investigated urinary GAG sulfation and blood collagen X marker (CXM) levels as potential biomarkers for DTD.
Article
Genetics & Heredity
Bobby K. Brar, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Janet M. Legare, Julie E. Hoover-Fong
Summary: This study aimed to determine whether the route of delivery affects postnatal achondroplasia-related surgical burden in pregnancies affected by maternal or fetal achondroplasia. The study found no difference in the risk of postnatal surgical interventions between vaginal delivery and cesarean birth, even for average stature mothers.
GENETICS IN MEDICINE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Moss Y. Zhao, Elizabeth Tong, Rui Duarte Armindo, Ates Fettahoglu, Jason Choi, Jacob Bagley, Kristen W. Yeom, Michael Moseley, Gary K. Steinberg, Greg Zaharchuk
Summary: This study investigates the short- and long-term changes in hemodynamics after bypass surgeries in pediatric Moyamoya patients. The results show significant increases in perfusion in the regions affected by vasculopathy, improved cerebrovascular reserve, and reduced arterial transit time after surgery. These findings suggest that bypass surgery may lead to both short- and long-term improvements in hemodynamic parameters for pediatric patients with Moyamoya disease.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Correction
Pediatrics
Fereshteh Salimi-Jazia, Lauren S. Y. Wood, R. Ellen Jones, Julia Chandler, Talha Rafeeqi, Sanjeev Dutta, Gary Steinberg, Matias Bruzoni
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Clinical Neurology
Mario Teo, Kumar Abhinav, Teresa E. Bell-Stephens, Venkatesh S. Madhugiri, Eric S. Sussman, Tej Deepak Azad, Rohaid Ali, Rogelio Esparza, Michael Zhang, Gary K. Steinberg
Summary: The study found that the 30-day stroke risk after bypass surgery in moyamoya patients was 4.2% per procedure and the long-term stroke risk was 0.6% per patient-year. The study also identified age, MRI score, and hemodynamic reserve score as risk factors for postoperative morbidity. These findings can contribute to the development of predictive models for patient selection and treatment.
JOURNAL OF NEUROSURGERY
(2023)
Article
Endocrinology & Metabolism
David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober
Summary: This study explored the differences in cytokine levels between individuals with skeletal dysplasia and typically growing controls. The results showed that four cytokines were expressed at higher levels in individuals with skeletal dysplasia, while two cytokines were expressed at lower levels. These findings provide a foundation for further research on skeletal dysplasia and may offer new insights into clinical biomarkers or therapeutics.