keyword
https://read.qxmd.com/read/37758467/identification-of-novel-homozygous-variants-in-foxe3-and-ap4m1-underlying-congenital-syndromic-anophthalmia-and-microphthalmia
#21
JOURNAL ARTICLE
Warda Akbar, Asmat Ullah, Nighat Haider, Sufyan Suleman, Fati Ullah Khan, Abid Ali Shah, Muhammad Atif Sikandar, Sulman Basit, Wasim Ahmad
BACKGROUND: Anophthalmia and microphthalmia are severe developmental ocular disorders that affect the size of the ocular globe and can be unilateral or bilateral. The disease is found in syndromic as well as non-syndromic forms. It is genetically caused by chromosomal aberrations, copy number variations and single gene mutations, along with non-genetic factors such as viral infections, deficiency of vitamin A and an exposure to alcohol or drugs during pregnancy. To date, more than 30 genes having different modes of inheritance patterns are identified as causing anophthalmia and microphthalmia...
September 27, 2023: Journal of Gene Medicine
https://read.qxmd.com/read/37754823/-i-just-want-you-to-hear-that-term-characterizing-language-used-in-fetal-cardiology-consultations
#22
JOURNAL ARTICLE
Kelsey Schweiberger, Kelly W Harris, Ann Kavanaugh-McHugh, Abdesalam Soudi, Robert M Arnold, Jessica S Merlin, Nadine A Kasparian, Judy C Chang
The way clinicians communicate with parents during pregnancy about congenital heart disease (CHD) can significantly influence parental understanding of and psychological response to the diagnosis. A necessary first step to improving communication used in fetal cardiology consultations is to understand and describe the language currently used, which this paper aims to do. Nineteen initial fetal cardiology consultations with parents were audio-recorded, transcribed verbatim, and coded by two independent coders...
September 13, 2023: Journal of Cardiovascular Development and Disease
https://read.qxmd.com/read/37725823/the-utility-of-maternal-torch-screening-due-to-obstetrical-indications-in-detecting-congenital-infections-a-retrospective-observational-study
#23
JOURNAL ARTICLE
Raneen Abu Shqara, Shany Or, Abdallah Abu Zraki, Jeries Rizik, Daniel Glikman, Hagai Rechnitzer, Lior Lowenstein, Maya Frank Wolf
BACKGROUND: The diagnostic yield of TORCH screening for obstetrical indications is unclear. We evaluated TORCH testing results among women with intrauterine growth restriction (IUGR), polyhydramnios and oligohydramnios; and associations with congenital infections in neonates. METHOD: This retrospective single-center study included all the women diagnosed with IUGR, polyhydramnios or oligohydramnios who underwent serological TORCH testing during 2010-2019. TORCH screening included Toxoplasma, cytomegalovirus (CMV), rubella IgM and IgG...
September 14, 2023: Pediatric Infectious Disease Journal
https://read.qxmd.com/read/37647735/brazilian-society-of-otology-task-force-otosclerosis-evaluation-and-treatment
#24
REVIEW
Vagner Antonio Rodrigues Silva, Henrique Furlan Pauna, Joel Lavinsky, Guilherme Corrêa Guimarães, Nicolau Moreira Abrahão, Eduardo Tanaka Massuda, Melissa Ferreira Vianna, Cláudio Márcio Yudi Ikino, Vanessa Mazanek Santos, José Fernando Polanski, Maurício Noschang Lopes da Silva, André Luiz Lopes Sampaio, Raul Vitor Rossi Zanini, Luiz Fernando Manzoni Lourençone, Mariana Moreira de Castro Denaro, Daniela Bortoloti Calil, Carlos Takahiro Chone, Arthur Menino Castilho
OBJECTIVES: To review and provide evidence-based recommendations for the diagnosis and treatment of otosclerosis. METHODS: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on otosclerosis were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions...
2023: Brazilian Journal of Otorhinolaryngology
https://read.qxmd.com/read/37615978/otolaryngology-and-the-pregnant-patient
#25
JOURNAL ARTICLE
Claire M Lawlor, M Elise Graham, Lynsey C Owen, Lauren F Tracy
IMPORTANCE: Pregnancy may result in physiologic and pathologic changes in the head and neck. Otolaryngologists may need to intervene medically or surgically with pregnant patients. Careful consideration of risks to both the gravid patient and the developing fetus is vital. OBSERVATIONS: Patients may present with otolaryngologic complaints exacerbated by or simply occurring during their pregnancy. Symptoms of hearing loss, vertigo, rhinitis or rhinosinusitis, epistaxis, obstructive sleep apnea, sialorrhea, voice changes, reflux, subglottic stenosis, and benign and malignant tumors of the head and neck may prompt evaluation...
October 1, 2023: JAMA Otolaryngology—Head & Neck Surgery
https://read.qxmd.com/read/37537975/cytomegalovirus-infection-during-pregnancy
#26
JOURNAL ARTICLE
Harshitha Kallubhavi Choodinatha, Min Ryeong Jeon, Bo Young Choi, Kyong-No Lee, Hyeon Ji Kim, Jee Yoon Park
Cytomegalovirus (CMV) infection during pregnancy is a global silent problem. Additionally, it is the leading cause of congenital infections, non-genetic sensorineural hearing loss, and neurodevelopmental delays in infants. However, this has barely been recognized globally. This condition lacks adequate attention, which is further emphasized by the lack of awareness among healthcare workers and the general population. The impact of CMV infection is often overlooked because of the asymptomatic nature of its presentation in infected pregnant women and newborns, difficulty in diagnosis, and the perception that infants born to women with pre-existing antibodies against CMV have normal neonatal outcomes...
August 4, 2023: Obstetrics & Gynecology Science
https://read.qxmd.com/read/37424377/figo-guidance-for-sustainable-implementation-of-vaccination-programs-for-women-pregnancy-and-hpv
#27
JOURNAL ARTICLE
Eliana Amaral, Joanna M Cain, Francesca Hearing, Mary Ann Lumsden
No abstract text is available yet for this article.
July 2023: International Journal of Gynaecology and Obstetrics
https://read.qxmd.com/read/37362118/gestational-mild-covid-19-infection-associated-neonatal-hearing-loss-a-case-control-study-from-north-india
#28
JOURNAL ARTICLE
Lohith Banavara Rajanna, Sheetal Raina, Ritika Bhatia, Shailendra Tripathi, Himanshu Chhagan Bayad, Ranjeet Ranjan, Anchita Srivastava, Omvir Singh Chahar
COVID-19 infection during pregnancy is potentially dangerous to neonatal hearing, as it is the period of organogenesis, and associated hyperthermia may cause vascular damage, disruption of cell migration, and death of the dividing neuroblasts. To investigate the possible association between neonatal hearing loss and gestational mild COVID-19 infection. A prospective case-control study was conducted at a tertiary healthcare centre in North India from March 2020 to Oct 2022. Cases included the neonates born to COVID-19-positive mothers were subjected to hearing screening at 1, 3 and 6 months using otoacoustic emission (OAE) and automated auditory brainstem response (AABR)...
April 17, 2023: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/37306102/mortality-and-neurodevelopmental-outcome-after-invasive-group-b-streptococcal-infection-in-infants
#29
JOURNAL ARTICLE
Maren Mynarek, Torstein Vik, Guro L Andersen, Anne K Brigtsen, Sandra Julsen Hollung, Tricia L Larose, Stian Lydersen, Lene C Olsen, Marianne S Strøm, Jan E Afset
AIM: To assess case fatality rate (CFR), infant mortality, and long-term neurodevelopmental disorders (NDDs) after invasive group B streptococcal (GBS; Streptococcus agalactiae) infection in infants. METHOD: Children born in Norway between 1996 and 2019 were included. Data on pregnancies/deliveries, GBS infection, NDDs, and causes of death were retrieved from five national registries. The exposure was culture-confirmed invasive GBS infection during infancy. Outcomes were mortality and NDDs, the latter at a mean age of 12 years 10 months...
June 12, 2023: Developmental Medicine and Child Neurology
https://read.qxmd.com/read/37206775/fungal-otitis-externa-and-tympanic-membrane-perforation
#30
JOURNAL ARTICLE
Gur Paramjeet Singh Gill, Vineet Panchal, Rupinder Bakshi
INTRODUCTION: Otomycosis is a fungus-causing superficial infection of the external auditory canal that is common in otolaryngology practice. Though it is a worldwide infection, but is more prevalent in warm and humid regions. There has been rise in the occurrence of otomycosis in the last few years because of the extensive usage of antibiotic eardrops. Other influencing reasons for the occurrence of otomycosis is swimming, an immunocompromised host (e.g.: DM, AIDs) pregnancy, post-canal wall down mastoidectomy, tympanic membrane perforation, hearing aids and self-inflicted injuries...
April 2023: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/37184635/reproductive-health-counseling-and-concerns-among-women-with-congenital-heart-defects-with-and-without-disabilities
#31
JOURNAL ARTICLE
Sherry L Farr, Maureen Galindo, Karrie F Downing, Wendy N Nembhard, Scott E Klewer, Ashley S Judge, Elijah H Bolin, Argelia Benavides, Matthew E Oster
Background: Women with disabilities are less likely to receive reproductive health counseling than women without disabilities. Yet, little is known about reproductive health counseling and concerns among women with congenital heart defects (CHD) and disabilities. Methods: We used population-based survey data from 778 women aged 19 to 38 years with CHD to examine contraceptive and pregnancy counseling and pregnancy concerns and experiences by disability status, based on six validated questions on vision, hearing, mobility, cognition, self-care, and living independently...
May 12, 2023: Journal of Women's Health
https://read.qxmd.com/read/37098192/principles-of-patients-selection-and-safety-of-repetitive-transcranial-magnetic-stimulation-position-statement-of-the-section-of-biological-psychiatry-of-the-polish-psychiatric-association
#32
Jakub Maria Antczak, Weronika Dębowska, Anna Poleszczyk, Jakub Kaźmierski, Joanna Rymaszewska, Napoleon Waszkiewicz, Adam Wichniak
Transcranial magnetic stimulation (TMS) is a method of noninvasive brain stimulation developed since the 1980s. Repetitive transcranial magnetic stimulation (rTMS) is one of the methods of noninvasive brain stimulation, which is increasingly used to treat psychiatric disorders. Recent years witnessed a dynamic growth in the number of sites offering therapy with rTMS and of the interest of patients in this method in Poland. This article presents the position statement of the working group of the Section of Biological Psychiatry of the Polish Psychiatric Association concerning the proper patients selection and safety of use of rTMS in the therapy of psychiatric conditions...
December 31, 2022: Psychiatria Polska
https://read.qxmd.com/read/37039858/knowledge-attitude-and-acceptability-regarding-antenatal-perineal-massage-in-thai-pregnant-women
#33
JOURNAL ARTICLE
Tamonwan Meeprom, Purim Ruanphoo, Suvit Bunyavejchevin, Keerati Chiengthong
INTRODUCTION AND HYPOTHESIS: Antenatal perineal massage for obstetric anal sphincter injury prevention is not routinely performed in Thailand. Due to the cultural conservatism in the country, attitudes and acceptability need to be evaluated before procedure implementation. This research was conducted to evaluate knowledge, attitudes, and acceptability of antenatal perineal massage and identify associated factors for acceptability in antenatal perineal massage among Thai pregnant women...
April 11, 2023: International Urogynecology Journal
https://read.qxmd.com/read/37017887/preimplantation-genetic-testing-for-hereditary-hearing-loss-in-chinese-population
#34
JOURNAL ARTICLE
Qingling Bi, Shasha Huang, Hui Wang, Xue Gao, Minyue Ma, Mingyu Han, Sijia Lu, Dongyang Kang, Aida Nourbakhsh, Denise Yan, Susan Blanton, Xuezhong Liu, Yongyi Yuan, Yuanqing Yao, Pu Dai
PURPOSE: To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population. METHODS: A PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleotide polymorphisms (SNPs) linkage analyses with a single low-depth next-generation sequencing run was implemented. Forty-three couples carried pathogenic variants in autosomal recessive non-syndromic HL genes, GJB2 and SLC26A4, and four couples carried pathogenic variants in rare HL genes: KCNQ4, PTPN11, PAX3, and USH2A were enrolled...
April 5, 2023: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/37006642/a-case-of-alport-syndrome-with-pregnancy-related-atypical-hemolytic-uremic-syndrome-and-crescentic-glomerulonephritis
#35
JOURNAL ARTICLE
Ilay Berke Mentese, Murat Tugcu, Ismail Nazli, Deniz Filinte, Ebru Asicioglu, Hakki Arikan, Serhan Tuglular, Arzu Velioglu
Kidney function may be impaired during pregnancy due to various reasons, and the physiological changes of pregnancy may unmask or worsen pre-existing kidney disease. Herein, we report a pregnant patient presenting with nephrotic-range proteinuria. She later developed acute kidney injury and pre-eclampsia. However, hemolytic anemia and thrombocytopenia persisted after delivery, and she was diagnosed with atypical hemolytic uremic syndrome (aHUS). Although hematological abnormalities resolved with eculizumab treatment, her renal functions did not improve...
2023: Clinical Nephrology. Case Studies
https://read.qxmd.com/read/36921946/neonatal-outcomes-and-indirect-consequences-following-maternal-sars-cov-2-infection-in-pregnancy-a-systematic-review
#36
JOURNAL ARTICLE
Sarah Sturrock, Shohaib Ali, Chris Gale, Cheryl Battersby, Kirsty Le Doare
OBJECTIVES: To identify the association between maternal SARS-CoV-2 infection in pregnancy and individual neonatal morbidities and outcomes, particularly longer-term outcomes such as neurodevelopment. DESIGN: Systematic review of outcomes of neonates born to pregnant women diagnosed with a SARS-CoV-2 infection at any stage during pregnancy, including asymptomatic women. DATA SOURCES: MEDLINE, Embase, Global Health, WHOLIS and LILACS databases, last searched on 28 July 2021...
March 15, 2023: BMJ Open
https://read.qxmd.com/read/36918163/antenatal-emergency-department-and-inpatient-use-among-massachusetts-deaf-and-hard-of-hearing-women-a-retrospective-cohort-study
#37
JOURNAL ARTICLE
Michael M McKee, Jianying Zhang, Ilhom Akobirshoev, Kimberly S McKee, Monika Mitra
OBJECTIVE: Hearing loss is increasingly prevalent among younger adults, impacting health and health care use. Deaf and hard of hearing (DHH) women have a higher risk of chronic diseases, pregnancy complications and adverse birth outcomes compared to hearing women. Health care utilization patterns during the perinatal period, remains not well understood. The objective was to examine differences in antenatal emergency department and inpatient utilization among DHH and non-DHH women. STUDY DESIGN: We conducted a retrospective cohort study design to analyze 2002-2013 Massachusetts Pregnancy to Early Life Longitudinal data to compare antenatal inpatient and emergency department use between DHH (N=925) and hearing (N=2895) women with singleton deliveries...
March 14, 2023: American Journal of Perinatology
https://read.qxmd.com/read/36906546/susceptibility-weighted-imaging-can-be-a-sensitive-sequence-to-detect-brain-damage-in-neonates-with-kernicterus-a-case-report
#38
JOURNAL ARTICLE
Maarten Lequin, Floris Groenendaal, Jeroen Dudink, Paul Govaert
BACKGROUND: Kernicterus in the acute phase is difficult to diagnose. It depends on a high signal on T1 at the globus pallidum and subthalamic nucleus level. Unfortunately, these areas also show a relatively high signal on T1 in neonates as an expression of early myelination. Therefore, a less myelin-dependent sequence, like SWI, may be more sensitive to detecting damage in the globus pallidum area. CASE PRESENTATION: A term baby developed jaundice on day three following an uncomplicated pregnancy and delivery...
March 11, 2023: BMC Neurology
https://read.qxmd.com/read/36860089/knowledge-of-cytomegalovirus-and-available-prevention-strategies-in-pregnancy-a-cross-sectional-study-in-portugal
#39
JOURNAL ARTICLE
Sidonie Monteiro, Andreia Gonçalves, Maria Manuel Torrão, Vera Costa, Amélia de Almeida
OBJECTIVE: Maternal and fetal congenital infection by cytomegalovirus (CMV) during pregnancy is the leading infectious cause of neurologic impairment and hearing loss. Efforts at limiting CMV exposure are based on hygienic measures. This study assessed the relationship between CMV knowledge and pregnant women's time perspective as per the Zimbardo Time Perspective Inventory (ZTPI) scale. METHODS: We conducted a prospective descriptive study at a secondary-care Portuguese hospital between October to November 2021...
December 2023: Journal of Maternal-fetal & Neonatal Medicine
https://read.qxmd.com/read/36624586/is-gestational-covid-19-a-risk-factor-for-congenital-hearing-loss
#40
JOURNAL ARTICLE
Gokce Tanyeri Toker, Yusuf Cagdas Kumbul, Ali Emre Cetinkol, Hale Aslan, Pinar Baba, Mehmet Yekta Oncel
OBJECTIVE: The aim of this study was to investigate whether COVID-19 during pregnancy is a risk factor for congenital hearing loss. STUDY DESIGN: Retrospective cohort. SETTING: Tertiary referral center. PATIENTS: Hearing screening test results of 60,223 newborns between March 2020 and May 2021 were screened using the national database. Newborn babies of 570 pregnant women with positive COVID-19 PCR test during pregnancy who met the study criteria were included in the gestational COVID-19 group, and 570 healthy newborns born in the same period were included in the control group...
February 1, 2023: Otology & Neurotology
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