keyword
https://read.qxmd.com/read/38534435/the-bad-father-paternal-role-in-biology-of-pregnancy-and-in-birth-outcome
#1
REVIEW
Stefano Raffaele Giannubilo, Daniela Marzioni, Giovanni Tossetta, Ramona Montironi, Maria Liberata Meccariello, Andrea Ciavattini
Pregnancy is generally studied as a biological interaction between a mother and a fetus; however, the father, with his characteristics, lifestyle, genetics, and living environment, is by no means unrelated to the outcome of pregnancy. The half of the fetal genetic heritage of paternal derivation can be decisive in cases of inherited chromosomal disorders, and can be the result of de novo genetic alterations. In addition to the strictly pathological aspects, paternal genetics may transmit thrombophilic traits that affect the implantation and vascular construction of the feto-placental unit, lead to placenta-mediated diseases such as pre-eclampsia and fetal growth retardation, and contribute to the multifactorial genesis of preterm delivery...
March 3, 2024: Biology
https://read.qxmd.com/read/38496077/a-case-of-hypofractionated-radiation-therapy-for-early-stage-breast-cancer-in-a-patient-with-fabry-disease
#2
Motoki Honda, Yojiro Ishikawa, Kengo Ito, Satoshi Teramura, Seki Yasuhiro, Takayuki Yamada
Fabry disease is a metabolic disorder caused by a deficiency in lysosomal enzymes and is inherited as an X-chromosomal disorder. Patients with Fabry disease have a low incidence of cancer, and reports of malignant tumors, especially in the thoracic region, are rare. In this case report, we describe our experience with radiation therapy following breast-conserving surgery in a patient with left breast cancer and Fabry disease, and we review the existing literature. The patient, a woman in her 40s, required postoperative irradiation for left breast cancer (pT1N0M0)...
February 2024: Curēus
https://read.qxmd.com/read/38448018/-application-of-convolutional-neural-networks-for-the-classification-of-metaphase-chromosomes
#3
JOURNAL ARTICLE
Lingling Xu, Ying Zhou, Lichao Zhang, Zhenyu Wang, Qianqian Mao, Ning Song, Haibo Li
OBJECTIVE: To train a deep convolutional neural networks (CNN) using a labeled data set to classify the metaphase chromosomes and test its accuracy for chromosomal identification. METHODS: Three thousand and three hundred individuals undergoing surveillance for chromosomal disorders at the Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Maternal and Child Health Care Hospital from January 2013 to July 2019 were enrolled. A total of 3 300×46 chromosome images were included, of which 70% were used as the training set and 30% were used as the test set for the deep CNN...
March 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38422787/in-vivo-quasi-elastic-light-scattering-detects-molecular-changes-in-the-lenses-of-adolescents-with-down-syndrome
#4
JOURNAL ARTICLE
Srikant Sarangi, Olga Minaeva, Danielle M Ledoux, Douglas S Parsons, Juliet A Moncaster, Caitlin A Black, Jeffrey Hollander, Yorghos Tripodis, John I Clark, David G Hunter, Lee E Goldstein
Down syndrome (DS) is the most common chromosomal disorder in humans. DS is associated with increased prevalence of several ocular sequelae, including characteristic blue-dot cerulean cataract. DS is accompanied by age-dependent accumulation of Alzheimer's disease (AD) amyloid-β (Aβ) peptides and amyloid pathology in the brain and comorbid early-onset Aβ amyloidopathy and colocalizing cataracts in the lens. Quasi-elastic light scattering (QLS) is an established optical technique that noninvasively measures changes in protein size distributions in the human lens in vivo...
February 2, 2024: Experimental Eye Research
https://read.qxmd.com/read/38414674/a-rare-presentation-of-edwards-syndrome-in-a-three-month-old-infant-a-case-report
#5
Anirudh Kommareddy, Jayant D Vagha, Keta Vagha, Amar Taksande, Chaitanya Kumar Javvaji
Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant's condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists...
January 2024: Curēus
https://read.qxmd.com/read/38404114/a-systematic-review-and-meta-analysis-of-serum-lipid-concentrations-in-people-with-down-syndrome
#6
REVIEW
Carolina Gastelum Guerrero, Yuridia Lizet Cháidez Fernández, Dalia Magaña Ordorica, Heidi Berger, Marilyn Vazquez Landrove, Alma Guadrón Llanos, Carla Angulo Rojo, Javier Magaña Gómez
BACKGROUND: Down syndrome (DS) is the most prevalent chromosomal disorder, being the leading cause of intellectual disability. The increased life expectancy of individuals with DS has led to a shift in the incidence of non-communicable chronic diseases, resulting in new concerns, particularly cardiovascular disease (CVD) and Alzheimer's disease. This study aimed to analyse the blood lipid profile of a large DS cohort to establish a baseline for evaluating health risk parameters. METHODS: A comprehensive literature search was conducted on PubMed and Virtual Health Library databases to identify original articles published before July 2022...
February 25, 2024: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/38399530/cytomegalovirus-pneumonia-in-a-patient-with-down-syndrome
#7
Francesco Perrotta, Donato Piscopiello, Daniela Rizzo, Gaetano Iosa, Giorgio Garzya, Piero Calò, Daniele Gemma
Down syndrome (DS) is a chromosomal disorder due to the presence of an additional chromosome 21 that causes intellectual deficit and physical anomalies and predisposes patients to develop infections throughout their lives. Pneumonias are more serious in patients with DS, requiring hospitalization, and they represent an important cause of mortality in this population. Cytomegalovirus (CMV) causes widespread and serious infections in immunocompromised individuals, affecting the respiratory tract and, when causing interstitial pneumonia, associated with a high mortality rate...
January 30, 2024: Medicina
https://read.qxmd.com/read/38387013/epidemiological-assessment-of-a-pediatric-palliative-care-clinic-at-a-brazilian-quaternary-hospital-20-years-of-experience
#8
JOURNAL ARTICLE
Gustavo Marquezani Spolador, Fernanda Bastos, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Joaquim Pinheiro Vieira Filho, Mariana Ribeiro Marcondes da Silveira, Elaine Freitas, Andréa Gislene do Nascimento, Silvia Maria de Macedo Barbosa
Background: The pediatric palliative care (PPC) sets up an interdisciplinary approach of chronic complex diseases throughout birth to adolescence. It encompasses countless contrasts in development and diagnosis scopes, which make this area a challenge to nonpediatric practitioners. Objective: We sought to assess the most prevalent diseases in follow-up of the PPC team. Methods: We analyzed the medical records of PPC clinic during the years 2001 and 2021 and the diagnosis of outpatients. We established a parallel with the world scientific literature concerning the epidemiology of PPC...
February 22, 2024: Journal of Palliative Medicine
https://read.qxmd.com/read/38376732/communication-of-the-diagnosis-to-klinefelter-subjects-an-observational-study-on-a-key-moment-of-the-patient-s-life
#9
JOURNAL ARTICLE
A Garolla, M Kiesswetter, S Angelini, F Cavalieri, C Foresta, M Panzeri, A Ferlin
PURPOSE: Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder among males. The communication of the KS diagnosis holds significant implications for the diagnosis's acceptance. Recently, the increased use of prenatal diagnostic procedures has raised the question of whether, when, and by whom information, once provided to parents, should be communicated to their children/adolescents. Currently, there is limited information on this topic. This study aims to investigate the most suitable timing, content, and healthcare professionals (HCPs) according to KS patients' suggestions for conveying the diagnosis, analyzing the impact of communicating the KS diagnosis on patients and their reception of the communication in real-life situations...
February 20, 2024: Journal of Endocrinological Investigation
https://read.qxmd.com/read/38358476/unraveling-the-mystery-of-multi-oocyte-follicles-an-observational-study
#10
C Sahni, S Seth, A K Nayak, R Singh
INTRODUCTION: Significant progress has been made in understanding oocyte fertilization and early developmental stages through in vitro fertilization (IVF) techniques. However, irregularities such as conjoined oocytes and binucleate giant oocytes, which are exceptions to the normal rule of one diploid female gamete per follicle, can potentially lead to chromosomal disorders in embryos and are recommended to be excluded from IVF attempts. The formation of primordial follicles during ovarian development, known as follicle assembly, is a critical process that establishes the ovarian follicle reserve...
2024: La Clinica Terapeutica
https://read.qxmd.com/read/38341017/an-unusual-case-of-trisomy-8-mosaicism-complicated-by-coexistence-of-phenylketonuria
#11
Yanan Wang, Lina Hu, Yuqiong Chai, Xiaofei Liu
Trisomy 8 syndrome, also known as " Warkany syndrome type 2 ", was first reported in 1971. Complete trisomy 8 are mostly aborted spontaneouslyinthe first trimester. Trisomy 8 mosaicism (T8M), predominated in the current cases reported. Itisahighlyheterogeneous Chromosome disorder. We know little about its effects on fertility. In this case, a patient with T8M combined with phenylketonuria was diagnosed. She's mentally retarded. After evaluating the anatomy and function of the reproductive system, the patient conceived through preimplantationgenetictesting-intracytoplasmicsperminjection-embryotransfer (PGT-ICSI-ET) and obtained a healthy fetus, which is the first report...
February 8, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/38314310/molecular-cytogenetic-analysis-of-multi-miscarriage-products-of-conception-in-clinical-cases-from-al-anbar-governorate-west-of-iraq
#12
JOURNAL ARTICLE
Mushtak T S Al-Ouqaili, Rafal M Murshid, Basma Y Abd Al-Kariem, Bushra A Kanaan, Ahmed T S Al-Neda
Most clinical miscarriages often occur throughout the first trimester of pregnancy, with fetal chromosomal abnormalities being identified as the primary reason for such occurrences. The objective is to analyze the fetal chromosomal aberrations in the product of conception among Iraqi patients suffering from recurrent miscarriages. The cross-sectional study was performed on 60 cases of products of conception in women suffering from multiple miscarriages, obtained from Department of Obstetrics and Gynecology is located in Ramadi Teaching Hospital for Child and Maternity, as well as other Private Clinics in the Ramadi City...
March 2024: Saudi Journal of Biological Sciences
https://read.qxmd.com/read/38307752/neonates-with-a-prenatal-diagnosis-of-hydrops-fetalis-a-10-year-experience-in-a-tertiary-care-center
#13
JOURNAL ARTICLE
Miriam Morey-Olivé, Carlota Marín Córdoba, Fátima Camba Longueira, Carlota Rodó Rodríguez, Silvia Arévalo Martínez, Nerea Maíz, Alicia Montaner-Ramón
INTRODUCTION: Hydrops fetalis (HF) is a rare condition with a high mortality. This study analysed the obstetric and perinatal outcomes of antenatally diagnosed HF according to its aetiology and the possibility of intrauterine treatment (IUT). PATIENTS AND METHODS: We carried out a retrospective review of the health records of 164 pregnant women with a prenatal diagnosis of HF in a tertiary care centre between 2011-2021. We analysed prenatal interventions, clinical findings, aetiologies and obstetric and live-born infant outcomes...
February 1, 2024: Anales de pediatría
https://read.qxmd.com/read/38290555/infant-mortality-categorized-by-birth-weight-percentiles-for-deliveries-between-22-and-28-weeks-of-gestation
#14
JOURNAL ARTICLE
Kazuma Onishi, Christiana Bitas, Tetsuya Kawakita
OBJECTIVE: To describe infant mortality within 1 year of life according to gestational age and birth weight percentile in infants delivered at 22-28 weeks of gestation. STUDY DESIGN: This study was a retrospective cohort study based on publicly available US birth certificate data linked to infant death data between 2014 to 2020. Maternal-neonate pairs of singleton live births between 22 0/7 and 28 6/7 weeks' gestation (vaginal or cesarean) were evaluated. We excluded infants with major fetal anomalies, chromosomal disorders, and birth weight outliers...
January 30, 2024: American Journal of Perinatology
https://read.qxmd.com/read/38231619/the-knowledge-domain-and-emerging-trends-in-the-infertility-field-a-67-year-retrospective-study
#15
JOURNAL ARTICLE
Razieh Akbari, Zahra Panahi, Marjan Ghaemi, Sedigheh Hantoushzadeh
Infertility is a significant problem influencing many couples. Our purpose was to assess the field of infertility in Obstetrics and Gynecology from 1955 to 2022 reviewing 3575 documents found in the Web of Science database. Most articles were in the areas of Reproductive Biology, Fertility, Endometriosis & Hysterectomy, and Chromosome Disorders. We found publication has increased dramatically since 1989. Agarwal, Thomas, and Sharma; United States, England, and Canada; Fertility and Sterility, Human Reproduction, and AJOG were the most-cited authors, countries, and journals, respectively...
January 17, 2024: Health Care for Women International
https://read.qxmd.com/read/38163785/disorders-of-sex-development-experience-at-a-tertiary-care-hospital-in-bangladesh
#16
JOURNAL ARTICLE
R Biswas, N Rahman, A B Kamrul-Hasan
In newborns, it is an emergency to decide the appropriate sex for rearing and eventual prevention associated metabolic disturbances. The birth of a baby with ambiguous genitalia inevitably precipitates a crisis for the baby and its family. This retrospective analysis of hospital data was designed to determine the chromosomal and etiological diagnosis of children presented with suspected disorders of sex development (DSD) according to the newer DSD consensus document. We retrospectively analyzed the available medical records of all patients admitted into the inpatient departments of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh from January 2014 to December 2019, and all patients with the diagnosis of DSD in the hospital record were initially selected for the study...
January 2024: Mymensingh Medical Journal: MMJ
https://read.qxmd.com/read/38158283/volume-of-the-normal-prostate-gland-in-polish-boys-aged-1-17-years-based-on-transabdominal-ultrasound-prospective-study
#17
JOURNAL ARTICLE
Kinga Kowalczyk, Małgorzata Gołuch, Michał Armata, Piotr Rycielski, Elżbieta Jurkiewicz, Maria Szarras-Czapnik, Michał Gogolewski, Lidia Skobejko-Włodarska, Krystyna Strulak, Karolina Oskroba, Karina Felberg, Piotr Gastoł
BACKGROUND: Until now, there are no established norms for prostate size in children. Prostate volume during development has been analyzed in small study groups. In diagnostic imaging, transabdominal ultrasound and magnetic resonance imaging are used. AIMS: To establish prostate volume norms for individuals aged 1-17 years using transabdominal ultrasound. STUDY DESIGN: Between 2021 and 2023, transabdominal prostate ultrasound was performed on 482 Caucasian boys, aged 1-17 years, who were patients of the urology clinic...
December 16, 2023: Journal of Pediatric Urology
https://read.qxmd.com/read/38150397/centromere-proximal-suppression-of-meiotic-crossovers-in-drosophila-is-robust-to-changes-in-centromere-number-repetitive-dna-content-and-centromere-clustering
#18
JOURNAL ARTICLE
Nila M Pazhayam, Leah K Frazier, Jeff Sekelsky
Accurate segregation of homologous chromosomes during meiosis depends on both the presence and regulated placement of crossovers (COs). The centromere effect, or CO exclusion in pericentromeric regions of the chromosome, is a meiotic CO patterning phenomenon that helps prevent nondisjunction (NDJ), thereby protecting against chromosomal disorders and other meiotic defects. Despite being identified nearly a century ago, the mechanisms behind this fundamental cellular process remain unknown, with most studies of the Drosophila centromere effect focusing on local influences of the centromere and pericentric heterochromatin...
December 27, 2023: Genetics
https://read.qxmd.com/read/38135027/unbound-bilirubin-and-acute-bilirubin-encephalopathy-in-infants-born-late-preterm-and-term-with-significant-hyperbilirubinemia
#19
JOURNAL ARTICLE
Sanjiv B Amin, Satish Saluja, Neelam Kler
OBJECTIVE: To compare the association of unbound bilirubin (UB), total serum bilirubin (TSB), and bilirubin:albumin molar ratio (BAMR) with acute bilirubin encephalopathy (ABE), as assessed by bilirubin-induced neurologic dysfunction (BIND) score, in infants with significant hyperbilirubinemia (TSB ≥20 mg/dL or underwent exchange transfusion). STUDY DESIGN: In this prospective cohort study, infants ≥34 weeks of gestational age with significant hyperbilirubinemia during the first 2 postnatal weeks were eligible, unless they had craniofacial malformations, chromosomal disorders, TORCH (toxoplasmosis, other infections, rubella, cytomegalovirus and herpes simplex) infections, surgery, or a family history of congenital deafness...
December 20, 2023: Journal of Pediatrics
https://read.qxmd.com/read/38134935/age-dependent-loss-of-cohesion-protection-in-human-oocytes
#20
JOURNAL ARTICLE
Bettina P Mihalas, Gerard H Pieper, Mansour Aboelenain, Lucy Munro, Vlastimil Srsen, Cerys E Currie, David A Kelly, Geraldine M Hartshorne, Evelyn E Telfer, Andrew D McAinsh, Richard A Anderson, Adele L Marston
Aneuploid human eggs (oocytes) are a major cause of infertility, miscarriage, and chromosomal disorders. Such aneuploidies increase greatly as women age, with defective linkages between sister chromatids (cohesion) in meiosis as a common cause. We found that loss of a specific pool of the cohesin protector protein, shugoshin 2 (SGO2), may contribute to this phenomenon. Our data indicate that SGO2 preserves sister chromatid cohesion in meiosis by protecting a "cohesin bridge" between sister chromatids. In human oocytes, SGO2 localizes to both sub-centromere cups and the pericentromeric bridge, which spans the sister chromatid junction...
December 14, 2023: Current Biology: CB
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