Article
Obstetrics & Gynecology
B. Petho, A. Matrai, G. Agocs, D. S. Veres, A. Harnos, S. Vancsa, F. Banhidy, P. Hegyi, N. Acs
Summary: The objective of this study was to identify the role of maternal age in the development of non-chromosomal congenital anomalies (NCAs). The study found that very young and advanced maternal ages are associated with an increased risk of different types of NCAs. Therefore, screening protocols should be adjusted for these risk groups.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Review
Endocrinology & Metabolism
Peter T. K. Chan, Bernard Robaire
Summary: This review discusses the impact of advanced paternal age on offspring and explores the relationships between advanced paternal age and fertility, perinatal health, cancer risk, genetic diseases, and neurodevelopmental effects. The potential mechanisms underlying the effects of advanced paternal age on germ cells and the current state of reproductive risk management are also presented. The challenges and approaches to address this important clinical dilemma are outlined.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Obstetrics & Gynecology
Damin Ahn, Jieon Kim, Junyeong Kang, Yun Hak Kim, Kihun Kim
Summary: Several studies have reported on the maternal age-associated risks of congenital anomalies. This study aimed to compare the risk of birth defects in children born to middle-aged mothers, young mothers, and older mothers. The results showed that children born to older mothers had an increased risk of congenital anomalies compared to those born to mothers aged 20-34, while children born to mothers under 20 only had an increased risk of abdominal wall defects.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2022)
Article
Ecology
Pauline Vuarin, Loic Lesobre, Gwenaelle Leveque, Michel Saint Jalme, Frederic Lacroix, Yves Hingrat, Gabriele Sorci
Summary: Research shows that paternal age can affect offspring sperm production, ultimately reducing their reproductive success. Offspring sired by old fathers exhibit different age-dependent trajectories of sperm production compared to offspring sired by young fathers, producing less sperm throughout their lifetime. The strongest effect was observed for paternal age, with weaker evidence for the effects of grandpaternal or great grandpaternal age.
Article
Cell Biology
Yangyang Sun, Xu Li, Wei Jiang, Yuanming Fan, Qiong Ouyang, Wei Shao, Raphael N. Alolga, Yuqiu Ge, Gaoxiang Ma
Summary: The study suggests that advanced paternal age may be an independent protective factor against various cancers in offspring, and it is positively associated with cancer incidence of the female genitalia, respiratory and intrathoracic organs, and lungs.
Letter
Medicine, General & Internal
Jennifer Horwitz, Shi Wu Wen, Hongzhuan Tan, Shujin Zhou, Chang Ye, Minxue Shen, Ravi Retnakaran
Summary: This cohort study examines the relationship between preconception paternal smoking and neonatal outcomes.
Article
Biochemistry & Molecular Biology
Yiting Mao, Yiran Zhao, Sisi Luo, Huixi Chen, Xia Liu, Ting Wu, Guolian Ding, Xinmei Liu, Jianzhong Sheng, Yicong Meng, Hefeng Huang
Summary: The study explores the metabolic phenotype of offspring from advanced paternal age and the inherited alterations in sperm, finding that paternal aging can lead to chronic metabolic risks in offspring and that these risks may be mediated through inherited alterations in sperm.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Respiratory System
Chun-Chun Gau, Hsin-Ju Lee, Hung-Yi Lu, Chao-Yi Wu, Hsin-Yi Huang, Hui-Ju Tsai, Tsung-Chieh Yao
Summary: This study investigated the association of paternal age with lung function and fraction of exhaled nitric oxide (FeNO) in children. The results showed that increasing paternal age at birth was associated with decreasing FEV1/FVC ratio and FEF75 in children. Furthermore, children with prenatal exposure to environmental tobacco smoke (ETS) or not being breastfed were more vulnerable to the adverse effect of advanced paternal age on childhood lung function. Further studies are needed to confirm this novel adverse effect of advanced paternal age.
RESPIRATORY RESEARCH
(2022)
Article
Psychiatry
Tsung Yu, Kun-Chia Chang, Pao-Lin Kuo
Summary: This study examined the association between parental diagnosis of psychiatric disorders and the risk of autism spectrum disorders (ASD). The study found that children with a family history of psychiatric disorders were more likely to develop ASD, and maternal diagnosis of psychiatric disorders had a greater influence on ASD risk.
JOURNAL OF PSYCHIATRIC RESEARCH
(2022)
Article
Obstetrics & Gynecology
Audrey M. Marsidi, Lauren M. Kipling, Jennifer F. Kawwass, Akanksha Mehta
Summary: The study found that paternal age has an impact on the likelihood of pregnancy and live birth among couples undergoing assisted reproductive technology, especially in women aged 35 and older. Compared to paternal age under 45, paternal age over 46 is associated with lower success rates in IVF cycles.
FERTILITY AND STERILITY
(2021)
Review
Obstetrics & Gynecology
Sughashini Murugesu, Lorraine S. Kasaven, Aviva Petrie, Anusiya Vaseekaran, Benjamin P. Jones, Timothy Bracewell-Milnes, Jennifer F. Barcroft, Karen J. Grewal, Natalie Getreu, Nicolas Galazis, Flavia Sorbi, Srdjan Saso, Jara Ben-Nagi
Summary: Infertility affects a significant proportion of couples, with male factor infertility accounting for 30% of cases. This meta-analysis study finds that paternal age has a notable impact on rates of pregnancy, live birth, and miscarriage, emphasizing the need to consider both maternal and paternal age when planning a family.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Genetics & Heredity
Qianqian Li, Xiaofan Zhu, Chenguang Yu, Lin Shang, Ranran Li, Xia Wang, Yaping Yang, Jingjing Meng, Xiangdong Kong
Summary: This study describes a case of external ophthalmoplegia with rib and vertebral anomalies (EORVA) in an 8-year-old boy. A novel homozygous mutation in the myogenic factor 5 gene (MYF5) was identified using trio-based exome sequencing. Functional experiments showed that the mutant MYF5 led to decreased expression and production of a truncated protein.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Md Mahiuddin Ahmed, Aaron Block, Nicolas Busquet, Katheleen J. Gardiner
Summary: The study highlights the importance of considering genotype, sex, age, and genetic background when evaluating drug efficacy for intellectual disability in Down syndrome using mouse models.
Article
Multidisciplinary Sciences
Lingling Mai, Hitoshi Inada, Ryuichi Kimura, Kouta Kanno, Takeru Matsuda, Ryosuke O. Tachibana, Valter Tucci, Fumiyasu Komaki, Noboru Hiroi, Noriko Osumi
Summary: Paternal age has a significant effect on vocal development in offspring, with advanced paternal age leading to a reduction in the number and duration of syllables, changes in syllable composition, and potentially affecting body weight development. Offspring born to young fathers exhibit more consistent vocal characteristics and a rich repertoire, while those born to aged fathers show more diverse vocal patterns and limited repertoire.
Article
Biochemistry & Molecular Biology
Kaichi Yoshizaki, Ryuichi Kimura, Hisato Kobayashi, Shinya Oki, Takako Kikkawa, Lingling Mai, Kohei Koike, Kentaro Mochizuki, Hitoshi Inada, Yasuhisa Matsui, Tomohiro Kono, Noriko Osumi
Summary: Studies have shown that advanced paternal age may lead to hypo-methylation of sperm DNA, which in turn affects neurodevelopmental programs in offspring.
Article
Public, Environmental & Occupational Health
Giuseppe Limongelli, Stefano Iucolano, Emanuele Monda, Pasquale Elefante, Chiara De Stasio, Imma Lubrano, Martina Caiazza, Marialuisa Mazzella, Fabio Fimiani, Maria Galdo, Giulia De Marchi, Martina Esposito, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Augusto Esposito, Ugo Trama, Salvatore Esposito, Gioacchino Scarano, Joseph Sepe, Generoso Andria, Valentina Orlando, Enrica Menditto, Paolo Chiodini
Summary: This study investigates the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the Covid-19 outbreak, and sheds light on problematic diagnoses during this period. The results show that the prevalence of new diagnoses of rare disease was significantly lower during the outbreak, and various issues such as lack of diagnostic resources and guidelines were identified.
JOURNAL OF PUBLIC HEALTH
(2022)
Review
Pediatrics
Francesca Di Candia, Paolo Fontana, Pamela Paglia, Mariateresa Falco, Carmen Rosano, Carmelo Piscopo, Gerarda Cappuccio, Maria Anna Siano, Daniele De Brasi, Claudia Mandato, Ilaria De Maggio, Gabriella Maria Squeo, Matteo Della Monica, Gioacchino Scarano, Fortunato Lonardo, Pietro Strisciuglio, Giuseppe Merla, Daniela Melis
Summary: A study evaluated 15 KS patients from the Campania region of Italy, revealing specific and previously underestimated neurological and immunological findings, such as high prevalence of EEG and MRI abnormalities, microcephaly, immunodeficiency, and autoimmune diseases. This suggests the need for further clinical diagnostic criteria for a more accurate and early diagnosis of KS.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Cardiac & Cardiovascular Systems
Emanuele Monda, Michele Lioncino, Marta Rubino, Silvia Passantino, Federica Verrillo, Martina Caiazza, Annapaola Cirillo, Adelaide Fusco, Francesco Di Fraia, Fabio Fimiani, Federica Amodio, Nunzia Borrelli, Alfredo Mauriello, Francesco Natale, Gioacchino Scarano, Francesca Girolami, Silvia Favilli, Giuseppe Limongelli
Summary: Cardiac involvement is a common cause of death and reduced quality of life in FRDA, with HCM being the most common form that requires comprehensive evaluation for early detection and proper management to prevent complications.
HEART FAILURE CLINICS
(2022)
Article
Public, Environmental & Occupational Health
Helen Dolk, Christine Damase-Michel, Joan K. Morris, Maria Loane
Summary: This study reviewed the main data sources and study designs used internationally for congenital anomalies (CA) research and their strengths and limitations in investigating COVID-19 disease, medications, and vaccines. The study found that pregnancy exposure registries have been the main design for COVID-19 pregnancy studies, but lack detailed information on first-trimester exposures relevant to CA. CA registries present opportunities for improving diagnostic accuracy in COVID-19 research. In addition, multinational collaboration delivers statistical power.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2022)
Editorial Material
Pediatrics
Joan K. Morris, Nicholas J. Wald
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Multidisciplinary Sciences
Stine Kjaer Urhoj, Joachim Tan, Joan K. Morris, Joanne Given, Gianni Astolfi, Silvia Baldacci, Ingeborg Barisic, Joanna Brigden, Clara Cavero-Carbonell, Hannah Evans, Mika Gissler, Anna Heino, Sue Jordan, Renee Lutke, Ljubica Odak, Aurora Puccini, Michele Santoro, Ieuan Scanlon, Hermien E. K. de Walle, Diana Wellesley, Oscar Zurriaga, Maria Loane, Ester Garne
Summary: Children with congenital anomalies have a higher risk of hospitalization and longer length of stay. However, the outlook improves after the first year. It is important to provide support and assistance to the parents of children with congenital anomalies, informing them about the necessary care and the impact on family life and siblings.
Article
Developmental Biology
Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner-Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero-Carbonell, Carlos M. Dias, Luis-Javier Echevarria-Gonzalez-de-Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna-Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne
Summary: Younger mothers in the UK have a higher risk of gastroschisis compared to other European countries. The prevalence of gastroschisis and congenital constriction bands is significantly higher in the UK, even after adjusting for maternal age. However, the prevalence of transverse limb reduction defects is similar between the UK and other countries.
BIRTH DEFECTS RESEARCH
(2022)
Article
Developmental Biology
Ester Garne, Stine Kjaer Urhoj, Marian Bakker, Mika Gissler, Joanne Given, Anna Heino, Elisabeth Limb, Maria Loane, Hermien de Walle, Joan Morris
Summary: This study evaluated the quality and accuracy of codes identifying termination of pregnancy for fetal anomalies (TOPFA) cases in hospital databases. The results showed that hospital databases have limited information or codes to accurately identify specific anomalies in TOPFA cases, but can be used to identify the occurrence of a TOPFA and obtain more detailed information from medical records.
BIRTH DEFECTS RESEARCH
(2023)
Article
Obstetrics & Gynecology
Paolo Fontana, Emanuele Agolini, Dario Cocciadiferro, Laura Letizia Mazzarelli, Aniello Di Meglio, Antonio Novelli, Gioacchino Scarano, Cinzia Lombardi, Maria Ciavarella, Fortunato Lonardo
Summary: This article describes a couple who had two consecutive therapeutic abortions due to a diagnosis of short-rib thoracic dysplasia mutations. The first diagnosis was made at 21 weeks of pregnancy, and the second diagnosis was made at 12 weeks through early and accurate ultrasound examination. DYNC2H1 mutations were confirmed in both cases. The importance of ultrasound evaluation in the first trimester for detecting early signs of skeletal dysplasias is emphasized in this report. Early prenatal diagnosis of short-rib skeletal dysplasia, as well as other severe skeletal dysplasias, is critical in providing couples with a chance to make a weighted, informed, and less traumatic decision about the continuation of the pregnancy.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2023)
Article
Pediatrics
Mohamad Maghnie, Paolo Bruzzi, Giorgio Casilli, Dario Lidonnici, Gioacchino Scarano
Summary: Through two Delphi panel discussions, Italian experts have identified the best practices and unmet needs in the management of patients with achondroplasia. The results emphasize the importance of standardized procedures to identify reference centers, the involvement of multidisciplinary teams, and effective communication among centers. Key points for diagnosis include genetic counseling, the presence of a psychologist, and clear communication during prenatal diagnosis, while major points for patient management involve early intervention, personalized care, and promoting a healthy lifestyle.
FRONTIERS IN PEDIATRICS
(2023)
Article
Oncology
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Summary: This study reports a case of early-onset colorectal cancer (EO-CRC) in a 27-year-old woman with Beckwith-Wiedemann syndrome (BWSp). Genetic and epigenetic analysis revealed the presence of genetic and epigenetic variations that may be associated with the development of EO-CRC.
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
Endocrinology & Metabolism
M. F. Bedeschi, S. Mora, F. Antoniazzi, S. Boero, R. Ravasio, G. Scarano, A. Selicorni, M. Sessa, F. Verdoni, G. Zampino, M. Maghnie
Summary: This study aimed to assess the real-world management of achondroplasia in Italy. Two online surveys were conducted to collect perspectives from parents/caregivers and clinicians. The surveys revealed that diagnosis of achondroplasia was commonly made in the third trimester of gestation and confirmed through genetic testing. Complications such as otitis, sleep apnoea, and hearing difficulties had the greatest impact on children between the ages of 2-5 years. Limb lengthening surgery was recommended to most parents/caregivers and viewed favorably by clinicians for improving patient quality of life and addressing various physical challenges.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Developmental Biology
Ann-Louise Rud Andersen, Stine Kjaer Urhoj, Joachim Tan, Clara Cavero-Carbonell, Miriam Gatt, Mika Gissler, Kari Klungsoyr, Babak Khoshnood, Joan Morris, Amanda J. Neville, Anna Pierini, Ieuan Scanlon, Hermien E. K. de Walle, Diana Wellesley, Ester Garne, Maria Loane
Summary: This population-based data-linkage cohort study investigated the mortality and morbidity for the first 5 years of life in European children diagnosed with Turner syndrome. The results showed that the burden of disease was relatively high in the first year, but decreased afterwards.
BIRTH DEFECTS RESEARCH
(2023)
Article
Pediatrics
Joanne Given, Joan K. Morris, Ester Garne, Elisa Ballardini, Laia Barrachina-Bonet, Clara Cavero-Carbonell, Mika Gissler, Francesca Gorini, Anna Heino, Sue Jordan, Amanda J. Neville, Anna Pierini, Ieuan Scanlon, Joachim Tan, Stine K. Urhoj, Maria Loane
Summary: This study aimed to evaluate the prescription rates of insulin/insulin analogues in children aged 0-9 years with and without major congenital anomalies. The results showed that children with chromosomal anomalies had an increased risk of developing diabetes requiring insulin therapy, while children with non-chromosomal anomalies had a similar risk to the reference group. Female children had a reduced risk, and preterm births without congenital anomalies were more likely to be prescribed insulin/insulin analogues.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)