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JOURNAL ARTICLE
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
Nail-patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in Japanese twins with clubfoot. The patients' mother, who shared this variant, developed proteinuria after delivery. p.Ser242del is located in the homeodomain of the protein, in which variants that cause renal disease tend to cluster. Our findings highlight p.Ser242del as a likely pathogenic variant, expanding our knowledge of NPS...
February 29, 2024: Human Genome Variation
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JOURNAL ARTICLE
Elisabetta Gibellato, Paola Cianci, Milena Mariani, Barbara Parma, Sylvia Huisman, Robert Śmigiel, Anne-Marie Bisgaard, Valentina Massa, Cristina Gervasini, Alex Moretti, Alessandro Cattoni, Andrea Biondi, Angelo Selicorni
SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of severe refractory epileptic seizures in the first year of life, global developmental delay, a variable degree of intellectual disability, and dysmorphic facial features not typical of CdLS...
February 29, 2024: American Journal of Medical Genetics. Part A
#23
JOURNAL ARTICLE
Edouard Chambon, Taymme Hachem, Elodie Salvador, Claire Bellanger, Julien Stirnemann, Elsa Kermorvant-Duchemin, Pierre Tissieres, Yves Ville, Alexandre Lapillonne
To characterize the neonatal hemodynamic profiles in recipients born after twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic selective laser coagulation (FSLC). Retrospective analysis during the first month of life of recipient twins. Of the 480 newborns born during an 11-year period, 138 recipient twins with prenatal FSLC were classified into four groups: no hemodynamic impairment (NoHI, n = 102, 74%), isolated high blood pressure (HighBP, n = 18, 13%), right ventricular outflow tract obstruction (RVOTO, n = 10, 7%), and cardiac failure (CF, n = 8, 6%)...
February 28, 2024: European Journal of Pediatrics
#24
REVIEW
Hiba J Mustafa, Faezeh Aghajani, Elise Patrick, Maryam M Baerz, Pedro Arias-Sánchez, Asma Khalil
INTRODUCTION: Our objective was to investigate outcomes in twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser surgery (FLS) at <18 weeks vs ≥18 weeks, and to conduct subgroup analysis of TTTS with FLS at <16 weeks vs 16-18 weeks. MATERIAL AND METHODS: PubMed, Scopus and Web of Science were searched systematically from inception until May 2023. Primary outcome was survival, and secondary outcomes included preterm premature rupture of membranes (PPROM), preterm birth and gestational age (GA) at delivery...
February 28, 2024: Acta Obstetricia et Gynecologica Scandinavica
#25
Daniela Willy, Ralf Schmitz, Mareike Möllers, Barbara Heitplatz, Anna Kuntze, Yvonne Stratis, Katrin Bahlke, Albrecht Röpke, Matthias Meyer-Wittkopf, Kathrin Oelmeier
Cases of hydatidiform moles with a coexisting fetus are sparse and patients are at high risk for severe complications. Patients and physicians often face the dilemma of the wish to continue pregnancy until viability of the fetus while the risk for maternal complications increases. We present an educational case of a twin pregnancy presenting with a hydatidiform mole and coexisting normal fetus with a placenta praevia. The patient developed severe, early onset preeclampsia with beginning HELLP-syndrome and was tested Covid-19 positive in the further course...
2024: Frontiers in Medicine
#26
JOURNAL ARTICLE
Michelle Bellair, Elisabete Amaral, Mason Ouren, Cameron Roark, Jaeweon Kim, April O'Connor, Adrianna Soriano, Margaret L Schindler, Ronald J Wapner, Joanne L Stone, Nicola Tavella, Audrey Merriam, Lauren Perley, Amy M Breman, Arthur L Beaudet
OBJECTIVE: To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood. METHODS: Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK+ /CD45- trophoblasts which were subjected to next-generation sequencing...
February 27, 2024: Prenatal Diagnosis
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REVIEW
Anouk M van der Schot, Josee L van Steenis, Esther Sikkel, Marc E A Spaanderman, Joris van Drongelen
INTRODUCTION: Preterm prelabor rupture of membranes (PPROM) remains a major complication of fetal laser surgery in the treatment of twin-to-twin transfusion syndrome (TTTS). The aim of the study was to determine the impact of cannula size on pregnancy outcomes, with a particular focus on PPROM. MATERIAL AND METHODS: The protocol was developed and registered in the PROSPERO database under registration number CRD42022333630. The PubMed, Web of Science, and EMBASE databases were searched electronically on May 18, 2022, and updated on March 2, 2023, utilizing a combination of the relevant MeSH terms, keywords, and word variants for "TTTS" and "laser"...
February 23, 2024: Acta Obstetricia et Gynecologica Scandinavica
#28
REVIEW
Debananda Pati
Cell division is a crucial process, and one of its essential steps involves copying the genetic material, which is organized into structures called chromosomes. Before a cell can divide into two, it needs to ensure that each newly copied chromosome is paired tightly with its identical twin. This pairing is maintained by a protein complex known as cohesin, which is conserved in various organisms, from single-celled ones to humans. Cohesin essentially encircles the DNA, creating a ring-like structure to handcuff, to keep the newly synthesized sister chromosomes together in pairs...
February 22, 2024: Cellular and Molecular Life Sciences: CMLS
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JOURNAL ARTICLE
I Kyvernitakis, M Rosner, A Birk, L Goodman, L Herlands, P Wohlmuth, M Laurie, S Millard, M Kush, J Miller, A A Baschat
OBJECTIVE: To evaluate twin survival stratified by Quintero stage in patients with twin-to-twin transfusion syndrome (TTTS) after Solomon laser treatment. METHODS: Single center cohort of consecutive twin pregnancies treated with Solomon laser for TTTS. Preoperative Quintero stage, perioperative characteristics and obstetric factors were related to neonatal survival of the recipient and donor at discharge. Determinants of twin survival were evaluated using univariate, logistic regression and cumulative survival probability analyses...
February 21, 2024: Ultrasound in Obstetrics & Gynecology
#30
JOURNAL ARTICLE
Sebastião Cronemberger, Anna L B Albuquerque, Ana Cristina Simões E Silva, Jovita Lane Soares Santos Zanini, Alexandre Higino Gonçalves da Silva, Luciana F Barbosa, Francine da Cunha Rubião, Felipe L de Lima, Rossana Fonseca Casimiro, Márcio Placedino Martins, Alberto Diniz-Filho, Luciana Bastos-Rodrigues, Eitan Friedman, Luiz De Marco
AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour...
February 16, 2024: Acta Paediatrica
#31
Juan Carlos Bustos, Helga Vera, Paz Ahumada, Daniel Martin
BACKGROUND: The condition of monozygotic, monochorionic triplet fetuses with a pair of conjoined twins is extremely rare (close to one in a million births), presents challenges in its management, and with poor prognosis. CASE REPORT: We report a case of monochorionic diamniotic triplet pregnancy, ultrasound at 14 weeks shows a pair of conjoined thoracopagus fetuses, sharing heart, liver, and umbilical cord, in addition to omphalocele. The third fetus, without malformations, presents signs of early heart failure compatible with twin-to-twin transfusion syndrome...
February 2024: Birth Defects Research
#32
JOURNAL ARTICLE
Nilgün Çaylan, Sıddika Songül Yalçin, Başak Tezel, Oben Üner, Şirin Aydin, Fatih Kara
BACKGROUND: The aim of this study was to examine the characteristics of infant mortality associated with critical congenital heart disease (CCHD). METHODS: In a cross-sectional study, data for the study were obtained through Death Notification System, Birth Notification System and Turkish Statistical Institute birth statistics. RESULTS: Of all infant deaths, 9.8% (4083) were associated with CCHD, and the infant mortality rate specific to CCHD was 8...
February 12, 2024: BMC Public Health
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JOURNAL ARTICLE
Shemoon Marleen, Wasana Kodithuwakku, Ruvini Nandasena, Shezoon Mohideen, John Allotey, Silvia Fernández-García, Andrea Gaetano-Gil, Gabriel Ruiz-Calvo, Joseph Aquilina, Asma Khalil, Priya Bhide, Javier Zamora, Shakila Thangaratinam
BACKGROUND: ART is associated with higher rates of twin pregnancies than singleton pregnancies. Whether twin pregnancies conceived following ART have additional maternal and neonatal complications compared with non-ART twin pregnancies is not known. OBJECTIVE AND RATIONALE: The objective was to quantify the risk of adverse maternal and perinatal outcomes among twin pregnancies conceived following ART compared with non-ART and natural conception. Existing reviews vary in the reported outcomes, with many studies including triplet pregnancies in the study population...
February 12, 2024: Human Reproduction Update
#34
JOURNAL ARTICLE
Omer Ertekin, Buse Ozer Bekmez, Mehmet Buyuktiryaki, Mustafa Senol Akin, Evrim Alyamac Dizdar, Fatma Nur Sari
INTRODUCTION: Robust evidence revealed the impact of antenatal corticosteroid (ACS) administration on lower mortality and short-term neonatal outcomes in singleton preterm infants. We aimed to investigate the impact of ACS therapy on morbidity and mortality in preterm twin infants. METHODS: We conducted this retrospective single-center study from to the records of twin babies of 24-30 weeks of gestation admitted to the neonatal intensive care unit. The study population was grouped based on the exposure to ACS 1-7 days before birth as received or not...
January 30, 2024: Early Human Development
#35
JOURNAL ARTICLE
Jing Lin, Kai Zhang, Fenglu Wu, Bian Wang, Weiran Chai, Qianqian Zhu, Jialyu Huang, Jiaying Lin
BACKGROUND: The present study aimed to explore the maternal and perinatal risks in cases of monozygotic twins (MZT) following frozen-thawed embryo transfer (FET). METHODS: All twin births that were conceived following FET from 2007 to 2021 at Shanghai Ninth People's Hospital in Shanghai, China were retrospectively reviewed. The exposure variable was twin type (monozygotic and dizygotic). The primary outcome was the incidence of neonatal death while secondary outcomes included hypertensive disorders of pregnancy, gestational diabetes, intrahepatic cholestasis of pregnancy, placenta previa, placental abruption, preterm premature rupture of the membranes, Cesarean delivery, gestational age, birth weight, weight discordance, stillbirth, birth defects, pneumonia, respiratory distress syndrome, necrotizing enterocolitis, and neonatal jaundice...
February 7, 2024: Journal of Ovarian Research
#36
JOURNAL ARTICLE
Arthur Brant, Carlotta Meyer, Darius M Moshfeghi
A 33-5/7, 1570 g dichorionic diamniotic twin presented with cryptorchidism, failed hearing examination (both ears), poor feeding, profound hypoglycemia, coagulopathy, conjugated hyper-bilirubinemia, hydronephrosis, and hypotension. Microarray sent with results of whole genome SNP microgray analysis detected an interstitial duplication of the chromosomal segment 4q35 1q35.2. On this basis, telemedicine screening was performed to evaluate for ocular abnormalities in association with abnormal gene testing. Unilateral advanced retinopathy was noted affecting the right eye, with mature vascularization in the left eye...
February 1, 2024: Ophthalmic Surgery, Lasers & Imaging Retina
#37
REVIEW
Li Chen, Qiyin Dong, Rongqin Weng
PURPOSE: Assisted reproductive technology (ART) is commonly used to achieve pregnancy and often results in dichorionic diamniotic (DCDA) twin pregnancies. However, the potential risks of ART on maternal and neonatal outcomes in these pregnancies are not well understood. The objective is to compare the maternal and neonatal outcomes in DCDA twin pregnancies between those achieved through ART and those spontaneously conceived (SC). METHODS: We carried out a systematic comprehensive search of electronic databases; namely, PubMed, Embase, Scopus, and the Cochrane Library, from inception to March 2023 with a study period of recruitment between 2003 and 2023...
January 29, 2024: Journal of Assisted Reproduction and Genetics
#38
JOURNAL ARTICLE
Tiina Föhr, Arne Hendrix, Anna Kankaanpää, Eija K Laakkonen, Urho Kujala, Kirsi H Pietiläinen, Terho Lehtimäki, Mika Kähönen, Olli Raitakari, Xiaoling Wang, Jaakko Kaprio, Miina Ollikainen, Elina Sillanpää
BACKGROUND: Metabolic syndrome (MetS) is associated with premature aging, but whether this association is driven by genetic or lifestyle factors remains unclear. METHODS: Two independent discovery cohorts, consisting of twins and unrelated individuals, were examined (N = 268, aged 23-69 years). The findings were replicated in two cohorts from the same base population. One consisted of unrelated individuals (N = 1 564), and the other of twins (N = 293)...
January 25, 2024: International Journal of Obesity
#39
JOURNAL ARTICLE
Angel Chimenea, Lutgardo García-Díaz, Guillermo Antiñolo
Twin-twin transfusion syndrome (TTTS) is a serious complication in monochorionic (MC) pregnancies. Fetoscopic laser surgery (FLS) is the primary treatment for advanced TTTS, but managing Quintero stage I TTTS is still controversial. We conducted an observational study evaluating the 2-year neurodevelopment of fetuses, which underwent FLS for stage I TTTS, compared with advanced TTTS and uncomplicated monochorionic diamniotic twins (MCDTs). The study included 156 children: 14 in stage I TTTS group, 28 in advanced TTTS group, and 114 in uncomplicated twin group...
January 25, 2024: Clinical Pediatrics
#40
MULTICENTER STUDY
Grégoire Martin de Frémont, Nathalie Costedoat-Chalumeau, Estibaliz Lazaro, Rakiba Belkhir, Gaëlle Guettrot-Imbert, Nathalie Morel, Gaétane Nocturne, Anna Molto, Tiphaine Goulenok, Elisabeth Diot, Laurent Perard, Nicole Ferreira-Maldent, Maelle Le Besnerais, Nicolas Limal, Nihal Martis, Noémie Abisror, Odile Debouverie, Christophe Richez, Vincent Sobanski, François Maurier, Gaëtan Sauvetre, Hervé Levesque, Marie-Agnès Timsit, Nathalie Tieulié, Pauline Orquevaux, Boris Bienvenu, Matthieu Mahevas, Thomas Papo, Céline Lartigau-Roussin, Elodie Chauvet, Emilie Berthoux, Françoise Sarrot-Reynauld, Loïc Raffray, Marion Couderc, Nicolas Martin Silva, Noémie Jourde-Chiche, Nicolas Belhomme, Thierry Thomas, Vincent Poindron, Viviane Queyrel-Moranne, Juliette Delforge, Camille Le Ray, Emmanuelle Pannier, Xavier Mariette, Véronique Le Guern, Raphaèle Seror
BACKGROUND: Adverse pregnancy outcomes in women with primary Sjögren's syndrome have only been evaluated retrospectively using heterogeneous methods and with contradictory results. We aimed to describe adverse pregnancy, delivery, and birth outcome risks in pregnant women with primary Sjögren's syndrome compared with those of a matched general population in France, and to identify factors predictive of disease flares or adverse pregnancy outcomes. METHODS: We conducted a multicentre, prospective, cohort study in France using the GR2 (Groupe de Recherche sur la Grossesse et les Maladies Rares) registry...
June 2023: Lancet Rheumatology
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