Article
Genetics & Heredity
Camelia Chirtes, Alina Boglis, Andrea Toth, Corina Rac, Claudia Banescu
Summary: Raine syndrome is a congenital disorder caused by mutations in the FAM20C gene. It is characterized by typical facial dysmorphism, generalized osteosclerosis, and other possible symptoms such as intracranial calcification, hearing loss, and seizures. We report a severe case of Raine syndrome in a non-consanguineous family, with the patient exhibiting distinct facial dysmorphism, short neck, narrow chest, and curved tibia. Genetic testing confirmed two variants in the FAM20C gene, one pathogenic and one likely pathogenic, in both the patient and the parents.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Dilek Uludag Alkaya, Evren Akpinar, Kaya Bilguvar, Beyhan Tuysuz
Summary: Dysosteosclerosis is a rare genetic disorder characterized by short stature, increased bone fragility, and osteosclerosis. This study reported a case of a three-year-old girl with the disease, showing significant improvement in some symptoms over a 2.5-year period, but with the persistence of others.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Genetics & Heredity
Ru Xue, Guoqing Zhang, Xiafang Chen, Xiuxia Ye
Summary: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder characterized by abnormal bone development and multiple features, with no specific treatment available to date, early identification and treatment are recommended.
FRONTIERS IN GENETICS
(2021)
Article
Pediatrics
Funda Yavanoglu Atay, Hayriye Gozde Kanmaz Kutman, Duygu Bidev, Ozlem Bozkurt Kalyoncu, Serife Suna Oguz
Summary: Caffeine, widely used in neonatal intensive care units (NICUs), is beneficial in reducing apnea of prematurity but does not prevent respiratory morbidity such as bronchopulmonary dysplasia (BPD). This retrospective cohort analysis of 475 premature infants found that caffeine prophylaxis significantly decreased the incidence of apnea attacks but did not affect the rates of BPD and other common morbidities.
FRONTIERS IN PEDIATRICS
(2023)
Article
Pediatrics
Henrik Verder, Christian Heiring, Rangasamy Ramanathan, Nikolaos Scoutaris, Povl Verder, Torben E. Jessen, Agnar Hoskuldsson, Lars Bender, Marianne Dahl, Christian Eschen, Jesper Fenger-Gron, Jes Reinholdt, Heidi Smedegaard, Peter Schousboe
Summary: By combining clinical data with spectral data analysis of gastric aspirates, a new algorithm has been developed for early diagnosis of bronchopulmonary dysplasia, achieving high sensitivity and specificity in predicting the development of BPD at birth.
Article
Biochemistry & Molecular Biology
Xinpeng Liu, Yuanbo Zhan, Wenxia Xu, Xiaoyao Liu, Yawei Geng, Lixue Liu, Junlong Da, Jianqun Wang, Xinjian Zhang, Han Jin, Zhongshuang Liu, Shouli Guo, Bin Zhang, Ying Li
Summary: The study analyzed the expression and prognostic value of Fam20C in various cancers, revealing its widespread expression across different cancer types and its positive correlation with poor survival in bladder urothelial carcinoma, brain lower grade glioma, and stomach adenocarcinoma patients. Additionally, Fam20C expression was found to be positively associated with immune cell infiltration in bladder urothelial carcinoma, brain lower grade glioma, and stomach adenocarcinoma.
BIOSCIENCE REPORTS
(2021)
Article
Medicine, Research & Experimental
Bianca M. . Vamesu, Teodora Nicola, Rui Li, Snehashis Hazra, Sadis Matalon, Naftali Kaminski, Namasivayam Ambalavanan, Jegen Kandasamy
Summary: Mitochondrial dysfunction at birth is associated with the development of bronchopulmonary dysplasia (BPD) in extremely low-birth weight (ELBW) infants. Nebulized thyroid hormone (TH) has shown potential to improve mitochondrial function and reduce pulmonary fibrosis in adult animals. This study investigated the effects of intranasal T3 on neonatal lung injury and mitochondrial dysfunction in newborn mice, as well as its impact on lung fibroblasts and mesenchymal stem cells from ELBW infants. The results demonstrated that inhaled T3 attenuated hyperoxia-induced lung injury and improved mitochondrial function in mice, suggesting that TH supplementation might be a valuable therapeutic strategy for BPD.
Article
Medicine, General & Internal
Long Chen, Jie Li, Yuan Shi
Summary: This multicenter prospective cross-sectional study in China aimed to investigate the etiological factors, clinical characteristics, and outcomes of perinatal neonatal acute respiratory distress syndrome (NARDS). The incidence of NARDS was 1.44%, with pneumonia, asphyxia, and early-onset sepsis as the main triggers. The use of multiple doses of surfactant was associated with increased mortality.
Article
Medicine, General & Internal
Sophie G. Groene, Jip A. Spekman, Arjan B. Te Pas, Bastiaan T. Heijmans, Monique C. Haak, Jeanine M. M. van Klink, Arno A. W. Roest, Enrico Lopriore
Summary: This retrospective study compared respiratory morbidity between smaller and larger twins in monochorionic twins with selective fetal growth restriction. Results showed that despite genetic similarities, smaller twins had a lower rate of respiratory distress syndrome but a higher rate of bronchopulmonary dysplasia compared to larger twins.
Article
Immunology
Magdalena Szydlowicz, Barbara Krolak-Olejnik, Sergio L. Vargas, Zaneta Zajaczkowska, Dorota Paluszynska, Anna Szczygiel, Olga Matos, Andrzej B. Hendrich, Marta Kicia
Summary: The study revealed the prevalence of Pneumocystis jirovecii in mother-infant pairs of very low birth weight newborns, with Pneumocystis DNA detected in both newborns and mothers. The finding of Pneumocystis detection immediately after birth suggests the possibility of its transplacental transmission, and colonized infants were more likely to develop bronchopulmonary dysplasia, indicating a potential clinical importance of this pathogen in abnormal lung development.
JOURNAL OF INFECTIOUS DISEASES
(2021)
Article
Chemistry, Medicinal
Matthias Christian Hutten, Tim Brokken, Helene Widowski, Tobias Monaco, Jan Philipp Schneider, Markus Fehrholz, Daan Ophelders, Boris W. Kramer, Steffen Kunzmann
Summary: Phosphodiesterase (PDE) inhibition has been explored as a potential treatment for neonatal lung injury, but our study found that high doses of the inhaled PDE4 inhibitor GSK256066 can have detrimental effects and promote lung inflammation. We investigated the effects of high and low doses of GSK256066 on lung function and development, and found that high doses impaired oxygenation and altered alveologenesis in the premature lung. Our findings suggest a narrow therapeutic window for PDE4 inhibitors in the developing lung.
Article
Biochemistry & Molecular Biology
Makoto Nomiyama, Takuya Nakagawa, Fumio Yamasaki, Nami Hisamoto, Natsumi Yamashita, Ayane Harai, Kanako Gondo, Masazumi Ikeda, Satoko Tsuda, Masato Ishimatsu, Yuko Oshima, Takeshi Ono, Yutaka Kozuma, Keisuke Tsumura
Summary: This study classified fetal inflammatory response syndrome (FIRS) based on placental inflammation and investigated its association with neonatal morbidities. Among 330 women, FIRS without maternal-fetal inflammatory response (MIR/FIR) was not rare and was associated with increased risk of bronchopulmonary dysplasia, adverse neonatal outcomes, and extremely low gestational age.
Article
Endocrinology & Metabolism
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M. Nikkel, Hirofumi Ohashi, Roger E. Stevenson, Thuong Ha, Denise P. Cavalcanti, Hiroyuki Miyahara, Steven A. Skinner, Miguel A. Aguirre, Zuehal Akcoeren, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjoe, Koray Boduroglu, Hannah W. Moore, Raymond J. Louie, Peer Arts, Allie N. Merrihew, Milena Babic, Matilda R. Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P. Barnett, Hamish S. Scott, Andrei S. Chagin, Gen Nishimura, Giedre Grigelioniene
Summary: Lethal short-limb skeletal dysplasia Al-Gazali type is a rare disorder with unknown genetic etiology. A study involving nine patients with clinical features consistent with this disorder identified disease-causing variants in ADAMTSL2, shedding light on the genetic cause and highlighting the importance of analyzing the pseudogene region. This study enhances our understanding of Al-Gazali skeletal dysplasia and its association with ADAMTSL2-related disorders.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Chemistry, Multidisciplinary
Sjoerd Stevens, Paul Hendrickx, Tim Snijders, Ivo Lambrichts, Bjorn Stessel, Jasperina Dubois, Luc J. C. van Loon, Frank Vandenabeele, Anouk Agten
Summary: This study assessed the myocellular changes in SARS-CoV-2 patients during the first week of ICU admission and found that these patients suffer from substantial muscle fiber damage. These results highlight the need for specialized rehabilitation programs for ICU patients with SARS-CoV-2 infection.
APPLIED SCIENCES-BASEL
(2022)
Article
Genetics & Heredity
Nazan Eras, Yalcin Celik
Summary: A novel homozygous variant in the FAM20C gene was identified in this study, expanding the spectrum of nonlethal Raine syndrome phenotype and contributing to a better understanding of how these disorders develop and progress, which is particularly valuable for rare diseases where information is limited.
MOLECULAR SYNDROMOLOGY
(2021)
Article
Genetics & Heredity
Victor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchese, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valerie Benoit, Damien Lederer, Siddharth Banka
Summary: The study revealed that clinical features common in KS2 patients include neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, intellectual disability, microcephaly, congenital heart anomalies, among others. Males were more likely to be born prematurely, have shorter stature, and experience severe developmental delay/ID.
GENETICS IN MEDICINE
(2021)
Article
Multidisciplinary Sciences
Victor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphne Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Summary: The study uncovers the role of eIF5A in human development and disease, demonstrates the mechanistic complexity of EIF5A-related disorder, and raises possibilities for its treatment. Yeast and zebrafish experiments show that EIF5A variants cause a Mendelian disorder through reduced eIF5A-ribosome interactions, which can be partially corrected by spermidine supplementation.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Maria Fernanda Medina, Gabriela Castro, Felipe Falcon, Juan Francisco Cabello, Victor Faundes, Diana Ruffato, Maria Florencia Salazar, Carolina Arias, Felipe Penaloza, Alicia De la Parra, Veronica Cornejo
Summary: Maple Syrup Urine Disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of BCKAD enzymatic complex. Treatment involves dietary restriction and metabolic control. The majority of cases are explained by BCKDHB variants, and most patients experience developmental delay.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Kamal Khan, Sarmad Mehmood, Chunyu Liu, Maimoona Siddiqui, Arsalan Ahmad, Belqees Yawar Faiz, Barry A. Chioza, Emma A. Baple, Muhammad Ullah, Zaineb Akram, Humayoon S. Satti, Raees Khan, Gaurav G. Harlalka, Muhammad Jameel, Talia Akram, Shahid M. Baig, Andrew H. Crosby, Muhammad J. Hassan, Feng Zhang, Erica E. Davis, Tahir N. Khan
Summary: LGMDR1 is an autosomal recessive disorder commonly caused by biallelic mutations in the CAPN3 gene, leading to symptoms such as proximal muscle wasting, weakness of upper and lower limbs, and elevated serum creatine kinase levels. A rare homozygous CAPN3 variant near the exon 2 splice donor site was identified in affected individuals from three unrelated consanguineous families, suggesting a possible founder effect. This study extends the mutational spectrum of LGMDR1 and has implications for improved diagnosis in individuals of Pakistani origin.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G. Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A. Chioza, Lettie E. Rawlins, Olivia K. Wenger, Adam C. Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natasha Osawa, Megan Christine Rodriguez, Teresa M. Neuhann, Elaine H. Zackai, Beth Keena, Jenina Capasso, Alex Levin, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ingrid M. Wentzensen, Adam Jackson, Kate E. Chandler, Zeynep H. Coban-Akdemir, Jennifer E. Posey, Siddharth Banka, James R. Lupski, Sarah E. Sheppard, Marco Tartaglia, Barbara Triggs-Raine, Andrew H. Crosby, Emma L. Baple
Summary: This study provides further characterization and understanding of the disease caused by HYAL2 gene variants, which are associated with syndromic cleft lip/palate. Clinical and molecular investigations identified novel pathogenic variants and confirmed the consistent clinical manifestations of the condition. In silico modeling and functional studies shed light on the pathogenicity and molecular basis of the disease.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Zineb Ammous, Lettie E. Rawlins, Hannah Jones, Joseph S. Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A. Chioza, Ryan M. Ames, Harold E. Cross, Erik G. Puffenberger, Lorna Harries, Emma L. Baple, Andrew H. Crosby
Summary: The study identifies a SNIP1 gene variant associated with neurodevelopmental disorders in a population with high prevalence, highlighting key clinical features including hypotonia and intellectual disability. Transcript studies reveal altered gene expression profiles potentially explaining clinical outcomes, providing important insights into the molecular roles of SNIP1 and potential therapeutic avenues for research.
Article
Multidisciplinary Sciences
Guney Bademci, Maria Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin
Summary: The discovery and understanding of deafness genes, like MINAR2, have greatly contributed to our knowledge of hearing and its disorders. This study found DNA variants in MINAR2 in families with autosomal recessive nonsyndromic deafness, highlighting the importance of this gene in hearing.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Meeting Abstract
Clinical Neurology
Jonathan Davies, Alice Franklin, Emma Walker, Nick Owens, Nick Bray, Rosemary A. Bamford, Gina Commin, Barry Chioza, Joe Burrage, Emma Dempster, Eilis Hannon, Jonathan Mill
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2022)
Meeting Abstract
Clinical Neurology
Eilis Hannon, Jonathan Davies, Barry Chioza, Stefania Policicchio, Joe Burrage, Gina Commin, Aaron R. Jeffries, Leo Schalkwyk, Emma Dempster, Jonathan Mill
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2022)
Article
Multidisciplinary Sciences
Gemma Shireby, Emma L. Dempster, Stefania Policicchio, Rebecca G. Smith, Ehsan Pishva, Barry Chioza, Jonathan P. Davies, Joe Burrage, Katie Lunnon, Dorothea Seiler Vellame, Seth Love, Alan Thomas, Keeley Brookes, Kevin Morgan, Paul Francis, Eilis Hannon, Jonathan Mill
Summary: This study identified differences in cortical DNA methylation associated with Alzheimer's disease pathology and found that most of these differences occurred in non-neuronal cells.
NATURE COMMUNICATIONS
(2022)
Letter
Chemistry, Medicinal
Victor Faundes
JOURNAL OF MEDICINAL FOOD
(2023)
Article
Multidisciplinary Sciences
Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J. Watson, Victor Faundes, Yannis Duffourd, Pearl Lee, M. Celeste Simon, Xavier de la Cruz, Natalia Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen Mulhern, Cigdem Akman, Natalle Lippa, Marisa Andrews, Dustin Baldridge, John Constantino, Anita Rauch, Arie van Haeingen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M. Graham, Margaret Au, Laurence Falvre, Wel Shen, Rong Mao, Janice Palumbos, David Viskochil, William Gahl, Cynthia Tifft, Ellen Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah Mackllin-Mantla, Ilse Meerschaut, Bert Callewaert, Andre Rels, Christiane Zweler, Carole Brewer, Anand Saggar, Marie F. Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pler, Saskia Wortmann, Erik-Jann Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne-Sophie Denomme-Pichon, Sacha Weber, Ruben Perez de la Fuente, Jaime Sanchez del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Ani Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frederic Tran Mau-Then, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna M. Cueto-Gonzalez, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G. Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J. Kaiser, Alma Kuechler, Oyvind L. Busk, Lily Islam, Jacob A. Siedlik, Lindsay B. Henderson, Jane Juusola, Richard Person, Rhonda E. Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth J. Bhoj, Holly A. F. Stessman
Summary: Pathogenic variants in KMT5B are associated with global developmental delay, macrocephaly, autism, and congenital anomalies. Hypotonia and congenital heart defects, previously not associated with this syndrome, were identified as prominent clinical features. Missense and putative loss-of-function variants resulted in slow growth in patient-derived cell lines.
Meeting Abstract
Biochemistry & Molecular Biology
Joseph Leslie, Lettie E. Rawlins, Barry A. Chioza, Oluwaseun R. Olusanya, Claire G. Salter, James Fasham, Harold E. Cross, Simon Lam, Gaurav V. Harlalka, Martina M. A. Muggenthaler, Emma L. Baple, Andrew H. Crosby
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Victor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphne Lehalle, William G. Newman, Patricia Newkirk, Miranda Splitt, Judith Ranells, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Victor Faundes, S. Goh, R. Akilapa, H. Bezuidenhout, H. T. Bjornsson, L. Bradley, A. F. Brady, E. Brischoux-Boucher, H. Brunner, S. Bulk, N. Canham, D. Cody, M. L. Dentici, M. C. Digilio, F. Elmslie, A. E. Fry, H. Gill, J. Hurst, D. Johnson, S. Julia, K. Lachlan, R. R. Lebel, M. Byler, E. Gershon, E. Lemire, M. Gnazzo, F. R. Lepri, A. Marchese, M. McEntagart, J. McGaughran, S. Mizuno, N. Okamoto, C. Rieubland, J. Rodgers, E. Sasaki, E. Scalais, I. Scurr, M. Suri, I. van der Burgt, N. Matsumoto, N. Miyake, V. Benoit, D. Lederer, S. Banka
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)