Article
Nursing
Macarena A. San Martin Porter, Steve Kisely, Kim S. Betts, Rosa Alati
Summary: The study found an association between screening for antenatal depressive symptoms and better neonatal outcomes, with women who did not complete the screening being at higher risk for preterm birth and low birth weight. Response: The completion of antenatal depression screening may have a positive impact on perinatal outcomes, although further research is needed to establish any causal relationship.
Article
Genetics & Heredity
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Summary: The study summarized the clinical and genotype characteristics of 21-OHD patients detected by neonatal screening in Nanjing, Jiangsu province of China from 2000 to 2019. Among 1,211,322 screened newborns, 62 cases were diagnosed with 21-OHD, with an incidence of 1:19858. The most frequent variant found in the CYP21A2 gene was c.293-13A/C>G (36.29%).
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Summary: This study investigated the prevalence, mutational and phenotypic spectrum, and prognosis of HPA in Nanjing, Jiangsu Province, China through neonatal screening from January 2001 to September 2020. A total of 181 patients were diagnosed with HPA from 1 to 957 newborns, with an incidence of 1:6873. The study identified common mutations in PAH and BH4 deficient patients, providing valuable information for genetic counseling and management of future cases.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Biophysics
Yunhao Lu, Feng Li, Jinrong Bai, Rodrigo Ledesma-Amaro, Dayu Liu, Qiang He, Ruijie Deng
Summary: Animal bacterial infection poses an increasing threat to human health. Researchers have developed a new genetic assay that can rapidly screen antimicrobial probiotics and estimate their in vivo antimicrobial effect. This assay has been used to identify bacteria from fermented food with strong antimicrobial activity against fish pathogens.
BIOSENSORS & BIOELECTRONICS
(2022)
Review
Obstetrics & Gynecology
Karl Oliver Kagan, Jiri Sonek, Peter Kozlowski
Summary: Cell-free DNA analysis (cfDNA) is now the gold standard in screening for trisomy 21, but it does not cover all chromosomal disorders; in the first trimester, the optimal approach is to combine ultrasound assessment with cfDNA testing.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2022)
Article
Obstetrics & Gynecology
Ying Tze Viola Chan, Steven Yuk Fai Lau, Shuk Yi Annie Hui, Teresa Ma, Choi Wah Kong, Lee Ting Kwong, Diana Chan, Diana Lee, Sau Lan Mok, Vinci Ma, Yim Chong Lo, Kwok Yin Leung, Wing Cheong Leung
Summary: This retrospective cohort study aimed to compare the incidences of early and late-onset neonatal sepsis, including group B streptococcus (GBS) and Escherichia coli (E. coli), before and after the implementation of universal screening and intrapartum antibiotics prophylaxis (IAP). The study found that the implementation of GBS screening and IAP was associated with a reduction in early-onset neonatal sepsis, including GBS disease. There was no significant evidence of an increase in the incidence of late-onset neonatal sepsis, including those caused by GBS.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Psychiatry
Bona Kim, Aya Sasaki, Kellie Murphy, Stephen G. Matthews
Summary: This study is the first to identify DNA methylation changes in human neonatal blood following antenatal corticosteroids (ACS). Hypermethylated genes were enriched for transcription regulation pathways, while hypomethylated genes were enriched for proteasome activity pathways.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Physiology
Cyril Guillier, Diane Carriere, Julien Pansiot, Arielle Maroni, Elodie Billion, Maud Ringot, Jean-Francois Benoist, Sebastien Jacques, Boris Matrot, Pierre-Henri Jarreau, Daniel Vaiman, Olivier Baud, Elodie Zana-Taieb
Summary: This study found that nebulized curcumin may prevent alveolarization disorders caused by IUGR in rat pups by targeting pathways related to lung development, potentially involving the regulation of the PPARγ pathway.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Elizabeth Nethery, Jennifer A. Hutcheon, Michael R. Law, Patricia A. Janssen
Summary: By comparing medical records, billing records, and insurance data, we found that billing records and insurance data accurately identified completion of routine antenatal screening tests for gestational diabetes, ultrasound, and Group B streptococcus with high sensitivity and specificity.
Review
Nutrition & Dietetics
Ioana Badiu Tisa, Anca Cristina Achim, Anamaria Cozma-Petrut
Summary: Galactosemia is an inborn metabolic disorder caused by a deficiency in galactose metabolism enzymes. Early diagnosis and treatment can avoid negative health consequences, and neonatal screening can promote early diagnosis and intervention, preventing complications.
Article
Endocrinology & Metabolism
Maia Banige, Dulanjalee Kariyawasam, Valerie Gauthereau, Dominique Luton, Michel Polak
Summary: This study evaluated the feasibility of using the thyroid-stimulating hormone value in dried blood collected on the third postnatal day for screening neonatal hyperthyroidism. The results showed that this screening test can effectively detect severe NH.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Medicine, General & Internal
Alexandros Sotiriadis, Emma McGoldrick, George Makrydimas, Stefania Papatheodorou, John P. A. Ioannidis, Fiona Stewart, Roses Parker
Summary: Prophylactic corticosteroids before elective caesarean section at term may reduce admission to neonatal intensive care unit for respiratory morbidity, but the effect on reducing respiratory distress syndrome or transient tachypnoea of the neonate remains uncertain. There is a lack of firm conclusions due to low certainty of evidence for primary outcomes, emphasizing the need for further research to evaluate the balance between benefits and potential harms of antenatal corticosteroid use.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Article
Obstetrics & Gynecology
Peter Socha, Alice McGee, Sohinee Bhattacharya, Catriona Young, Rui Wang
Summary: Antenatal corticosteroid administration may be associated with decreased neonatal mortality and respiratory distress syndrome (RDS) in twins.
OBSTETRICS AND GYNECOLOGY
(2022)
Review
Medicine, General & Internal
Martin Hlozanek, Zbynek Stranak, Zuzana Tereskova, Jan Mares, Inka Krejcirova, Marie Ceska Burdova
Summary: Neonatal ophthalmic screening can lead to early detection of ocular abnormalities, reducing the risk of long-term visual impairment. Wide-field digital imaging techniques have shown good results in detecting anterior and posterior segment pathologies, while telemedicine and artificial intelligence can improve the specificity and sensitivity of screening.
Article
Public, Environmental & Occupational Health
Kelly Amuli, Kim Decabooter, Florence Talrich, Anne Renders, Katrien Beeckman
Summary: This paper aims to develop a screening tool, the Born in Brussels Screening Tool (ST), for detecting antenatal psychosocial vulnerability, which consists of 13 indicators and 22 items. The development of this tool was based on literature search, survey, and expert advice, aiming to provide an adequate care pathway for vulnerable pregnant women.
Article
Cell Biology
Fulya Akcimen, Sandra Martins, Calwing Liao, Cynthia Bourassa, Helene Catoire, Garth A. Nicholson, Olaf Riess, Mafalda Raposo, Marcondes C. Franca, Joao Vasconcelos, Manuela Lima, Iscia Lopes-Cendes, Maria Luiza Saraiva-Pereira, Laura B. Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau
Article
Biochemistry & Molecular Biology
Carla Roma Oliveira, Alvaro Mendes, Jorge Sequeiros, Liliana Sousa
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Medicine, General & Internal
Mariana Santos, Joana Damasio, Celia Kun-Rodrigues, Clara Barbot, Jorge Sequeiros, Jose Bras, Isabel Alonso, Rita Guerreiro
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Biochemistry & Molecular Biology
Miguel Alves-Ferreira, Ana Azevedo, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Summary: This study identified 11 rare variants associated with the age-at-onset of symptoms in Portuguese ATTRV30M carriers. The findings suggest that variants within the TTR gene may play a role in modifying disease expressivity and warrant further exploration as potential therapeutic targets in the future.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2021)
Correction
Genetics & Heredity
Thomas Roux, Mathieu Barbier, Melanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr
Summary: A correction to this paper has been published.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Joana Damasio, Diana Santos, Sara Morais, Jose Bras, Rita Guerreiro, Ana Sardoeira, Sara Cavaco, Ines Carrilho, Clara Barbot, Jose Barros, Jorge Sequeiros
Summary: Congenital ataxias are characterized by early-onset ataxia, and in this study, two siblings with congenital ataxia were followed for 16 years and found to have near normal cognition, cerebellar ataxia, mild pyramidal signs, and dystonia. Through exome sequencing and minigene assay, a novel homozygous variant in the ATP8A2 gene was identified as a disease-causing mutation, expanding the spectrum of ATP8A2-related disorders to include less severe forms of congenital ataxia.
Article
Genetics & Heredity
Alvaro Mendes, Jorge Sequeiros, Angus J. Clarke
Summary: This study explores how genetic risk foregrounds forms of responsibility in dealing with reproduction. Findings suggest that some individuals perceive avoiding genetic risk as responsible behavior, while others prioritize values such as parenthood, family relationships, and the value of life, and accept risks. Participants' accounts also reflect efforts to see themselves as responsible persons and to appear responsible in the eyes of others.
JOURNAL OF GENETIC COUNSELING
(2021)
Article
Genetics & Heredity
Joana Damasio, Mariana Santos, Raquel Samoes, Maria Araujo, Mafalda Macedo, Ana Sardoeira, Sara Cavaco, Joel Freitas, Jose Barros, Jorge Oliveira, Jorge Sequeiros
Summary: Hereditary cerebellar ataxias are a group of neurodegenerative disorders affecting the cerebellum and/or cerebellar pathways. Next-generation sequencing has expanded the understanding of genes causing ataxia. The study suggests KMT2B may be involved in hereditary cerebellar ataxias.
Article
Clinical Neurology
Miguel Alves-Ferreira, Marlene Quintas, Jorge Sequeiros, Alda Sousa, Jose Pereira-Monteiro, Isabel Alonso, Joao Luis Neto, Carolina Lemos
Summary: The study revealed significant gene-gene interactions between NRXN2, GABRE, and CASK in the female group, potentially aiding in a better understanding of migraine etiology. This highlights the synergistic effect between these genes and their relation to migraine susceptibility, offering insight for new therapeutic approaches in the future.
JOURNAL OF HEADACHE AND PAIN
(2021)
Article
Genetics & Heredity
Milena Paneque, Marcia Carvalho, Fidjy Rodrigues, Jorge Saraiva, Alexandra Leonardo, Ana B. Sousa, Vania Machado, Miguel Goncalves-Rocha, Jorge Sequeiros, Patricio Soares Costa, Marina Serra de Lemos
Summary: This study developed and initially validated a novel scale for evaluating the quality of genetic counselling, which consists of seven factors explaining 59% of the variance. The scale demonstrated high internal consistency (α = 0.85) and the factors showed significant and moderate interrelatedness (ranging from r = 0.31 to r = 0.71).
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Neurosciences
Mafalda Raposo, Conceicao Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, Joao Vasconcelos, Teresa Kay, Maria Luiza Saraiva-Pereira, Marta D. Costa, Daniela Vilasboas-Campos, Bruno Filipe Bettencourt, Jacome Bruges-Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patricia Maciel, Manuela Lima
Summary: Machado-Joseph disease (MJD/SCA3), a neurodegenerative disorder, exhibits a wide spectrum of phenotypes. This study identified novel genetic modifiers and disease-modifying pathways contributing to the variable expressivity of MJD. Variants in CFAP57, ACTG1, and DIDO1 were found to consistently modulate the age at onset of MJD in different cohorts. Network analysis highlighted important molecular interactions among the novel MJD modifiers.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Cell Biology
Mariana Santos, Joana Damasio, Susana Carmona, Joao Luis Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, Jose Barros, Jose Bras, Jorge Sequeiros, Rita Guerreiro
Summary: This study performed whole-exome sequencing on families with hereditary cerebellar ataxia (HCA) to identify causal genes and discovered novel pathogenic variants associated with different clinical syndromes. It also highlighted the importance of distinguishing between autosomal dominant and autosomal recessive forms, and proposed common molecular pathways underlying cerebellar neurodegeneration.
Biographical-Item
Neurosciences
Helio Afonso Ghizoni Teive, Leo Coutinho, Joaquim Jose Ferreira, Jorge Sequeiros
ARQUIVOS DE NEURO-PSIQUIATRIA
(2022)
Letter
Clinical Neurology
Joana Damasio, Clara Barbot, Rui Felgueiras, Ana Filipa Brandao, Jose Barros, Jorge Oliveira, Jorge Sequeiros
MOVEMENT DISORDERS
(2023)
Article
Genetics & Heredity
Carla Roma Oliveira, Alvaro Mendes, Jorge Sequeiros, Liliana Sousa
Summary: This study explores how families adjust to Huntington disease in the Portuguese context, highlighting the important roles played by older relatives in shaping awareness and influencing management of the disease. Participants in the study, aged 28 to 72 years, reported 130 critical incidents, showcasing the initial struggles and learning process families undergo after a recent diagnosis.
JOURNAL OF COMMUNITY GENETICS
(2021)
