keyword
https://read.qxmd.com/read/38646314/necrotizing-enterocolitis-in-an-infant-with-a-history-of-twin-twin-transfusion-syndrome-a-case-report
#1
Nga N Tran, Sydney Hutto, James Liu, Tyler Bullock, Richard Virgilio, David L Flowers
This case report describes necrotizing enterocolitis (NEC) in an infant with a history of twin-twin transfusion syndrome (TTTS). TTTS is a volume imbalance where the anastomosis at the vascular equator between the two placentae shifts from the donor to the recipient twin. This causes a higher risk for NEC, a marked inflammation caused by bacterial infection into the intestinal wall, from prematurity and intestinal hypoperfusion. Complications include sepsis, bowel necrosis, perforation, peritonitis, and death...
March 2024: Curēus
https://read.qxmd.com/read/38646248/serendipitous-discovery-a-case-of-twin-congenital-pseudarthrosis-of-the-clavicle-in-saudi-arabia-and-literature-review
#2
Ammar Abed Alqader Okasha, Areeg Kamal Abbas, Mohamad Alsamal, Idris Sula
Congenital pseudarthrosis of the clavicle (CPC) is a rare disorder with an unknown etiology, which is caused by a failure of the clavicle ossification nuclei union process. This is the first CPC twin instance documented in Saudi Arabia, and the fourth overall. In the 33rd week, a set of twins was born prematurely with respiratory distress syndrome. They were both admitted to the neonatal intensive care unit. X-rays of the chest were taken, and the clavicular deformity was discovered. Because the twins were born via a cesarean section, a traumatic clavicular fracture was ruled out...
March 2024: Curēus
https://read.qxmd.com/read/38643403/cardiac-adaptation-and-malformation-in-twin-twin-transfusion-syndrome-and-selective-fetal-growth-restriction-a-systematic-review
#3
REVIEW
Anne T R Noll, Manon Gijtenbeek, E J T Joanne Verweij, Liesbeth Lewi, Lotta Herling, Monique C Haak
OBJECTIVES: This systematic review explores cardiac adaptation in monochorionic (MC) twins with twin-twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR) and assesses the risk of congenital heart defects (CHDs). METHODS: Adhering to PRISMA guidelines, 63 studies were reviewed (49 on cardiac adaptation, 13 on CHD, one on both). A narrative synthesis of cardiac adaptation patterns was performed. Additionally, a meta-analysis compared the livebirth prevalence of CHD in TTTS and sFGR against uncomplicated MC twins...
April 21, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38643401/perinatal-outcomes-of-fetoscopic-selective-laser-photocoagulation-for-spontaneous-twin-anemia-polycythemia-sequence
#4
JOURNAL ARTICLE
Jessian L Munoz, Cara Buskmiller, Magdalena Sanz Cortes, Roopali V Donepudi, Michael A Belfort, Ahmed A Nassr
OBJECTIVES: Antenatal management of monochorionic pregnancies complicated by twin anemia polycythemia sequence (TAPS) remains sub-optimally defined. Our objective was to evaluate the safety and efficacy of fetoscopic selective laser photocoagulation with respect to fetal and neonatal survival. METHODS: A case series is reported with patients referred to the Texas Children's Fetal Center for evaluation and management of suspected spontaneous TAPS without concomitant twin-to-twin syndrome from 2014 to 2023...
April 21, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38621483/perinatal-outcomes-of-pregnancies-following-autologous-cryopreserved-ovarian-tissue-transplantation-a-systematic-review-with-pooled-analysis
#5
REVIEW
Murat Erden, Esra Uyanik, Isabelle Demeestere, Kutluk H Oktay
OBJECTIVE: To synthesize the existing evidence on perinatal outcomes following autologous cryopreserved ovarian tissue transplantation (ACOTT), concurrently identifying key factors influencing these outcomes. DATA SOURCES: We performed a comprehensive search of MEDLINE, Embase, and Cochrane Library databases to identify relevant studies on the impact of ACOTT on perinatal outcomes from inception until October 22, 2023. Where there is missing information, the authors were contacted for updated data...
April 13, 2024: American Journal of Obstetrics and Gynecology
https://read.qxmd.com/read/38619739/mendelian-causes-of-autoimmunity-the-lupus-phenotype
#6
REVIEW
Maud Tusseau, Samira Khaldi-Plassart, Jade Cognard, Sebastien Viel, Liliane Khoryati, Sarah Benezech, Anne-Laure Mathieu, Fréderic Rieux-Laucat, Brigitte Bader-Meunier, Alexandre Belot
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity. The pathophysiology of SLE involves an aberrant autoimmune response against various tissues, an excess of apoptotic bodies, and an overproduction of type-I interferon. The genetic contribution to the disease is supported by studies of monozygotic twins, familial clustering, and genome-wide association studies (GWAS) that have identified numerous risk loci...
April 15, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38618640/recurrent-psychotic-episodes-induced-by-synthetic-cathinones-in-a-monozygotic-twin-with-drug-addiction-a-case-report
#7
Vsevolod V Severtsev, Albina A Budanova
We have described a clinical case of psychotic disorder induced by synthetic cathinones in one drug-addicted monozygotic twin. This clinical case is unique, because it offers the opportunity to observe many features of the singularity of the dependence syndrome in twin brothers: drug choice; motivation to use drugs; and the development of multiple, long-lasting psychoses in one of the brothers. We pursued a twelve-month follow-up of this case. The case substantiates the paucity of a fundamental understanding of mental disorders and highlights the importance of further research into the clinical features of drug-induced psychoses, especially those induced by novel psychoactive substances such as synthetic cathinones...
December 22, 2023: Consort Psychiatr
https://read.qxmd.com/read/38592212/prevalence-risk-factors-and-perinatal-outcomes-of-velamentous-umbilical-cord-insertion-in-twin-pregnancies-a-single-center-retrospective-study
#8
JOURNAL ARTICLE
Ayaho Somiya, Hiroyuki Tsuda, Eri Tsugeno, Yumi Nakamura, Masafumi Kuroyanagi, Hajime Araki, Yoshiki Masahashi, Miho Suzuki, Nobuhiko Fukuhara, Yumiko Ito, Atsuko Tezuka, Tomoko Ando, Kimio Mizuno
BACKGROUND: The effect of velamentous cord insertion (VCI) on perinatal outcomes in twin pregnancies is unclear due to conflicting findings. This retrospective study aimed to examine VCI prevalence and related risk factors in twin pregnancies and its association with adverse perinatal outcomes. METHODS: Women with twin pregnancies who delivered between January 2012 and December 2021 in a single tertiary hospital were included. The participants were divided into dichorionic (DC) and monochorionic diamniotic (MCDA) groups, and their maternal and fetal characteristics and VCI rates were compared...
February 28, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38585545/severe-early-onset-obesity-and-diabetic-ketoacidosis-due-to-a-novel-homozygous-c-169c-t-p-arg57-variant-in-cep19-gene
#9
JOURNAL ARTICLE
Atilla Cayir, Ayberk Turkyilmaz, Hannah Rabenstein, Fadime Guven, Yuksel Sumeyra Karagoz, Dogus Vuralli, Martin Wabitsch, Huseyin Demirbilek
INTRODUCTION: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The " centrosomal protein 19 ( CEP19 ) " gene encodes for a centrosomal and ciliary protein. Homozygous variants in the CEP19 gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features. METHODS: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family...
March 2024: Molecular Syndromology
https://read.qxmd.com/read/38576930/alstrom-syndrome-with-classical-findings-a-rare-case-report-of-monogenic-ciliopathy-co-occurrence-in-twins
#10
Sagun Ghimire, Suman Simkhada, Samir Thapa, Kiran Ghising
INTRODUCTION AND IMPORTANCE: Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but based upon the available medical literature its mechanism can be linked with recessive mutation in Alstrom syndrome 1(ALSM1) gene resulting in various multiple organ involvement and poor prognosis. Moreover the co-occurrence of such syndrome simultaneously in twins in same period of time is considered rare...
April 2024: Annals of Medicine and Surgery
https://read.qxmd.com/read/38553895/prenatal-findings-in-11-cases-with-craniofacial-microsomia-using-the-alberta-congenital-anomalies-surveillance-system-1997-2019
#11
JOURNAL ARTICLE
Mary Ann Thomas, Tanya Bedard, Susan Crawford, R Brian Lowry
Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies...
March 30, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38551436/ultrasonographic-features-and-pregnancy-outcomes-of-complications-in-monochorionic-twin-pregnancy-during-various-pregnancy-periods
#12
JOURNAL ARTICLE
Yunfei Ding, Jian Li, Wei Liu, Ankaerjiang Anniwaer, Bo Li, Yutang Chen, Zhaoxia Yu
OBJECTIVE: It was to explore the ultrasonic characteristics of complications of twin pregnancies with monochorionic diamniotic (MCDA) during various pregnancy periods and the differences in pregnancy outcomes. METHODS: One hundred pregnant women with MCDA were included in the study. They were rolled into a complication group (44 cases) and a non-complication group (56 cases) according to whether they had complications. The pulsatility index (PI), resistance index (RI), and systolic/diastolic (S/D) values of ultrasound in pregnant women and the final neonatal situation at each time period were compared and analyzed...
March 29, 2024: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/38549198/fetus-with-multiple-congenital-anomaly-syndrome-caused-by-novel-variant-in-atp1a2
#13
Natalie Burrill, Nahla Khalek, Ana G Cristancho, Beverly Coleman, Jill Murrell, Julie S Moldenhauer
We report a 32-year-old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture, indicative of a prior insult in the affected twin. The co-twin was grossly normal...
March 28, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38541861/extra-corporeal-membrane-oxygenation-in-pregnancy
#14
REVIEW
Tatsiana Romenskaya, Yaroslava Longhitano, Aman Mahajan, Gabriele Savioli, Antonio Voza, Manfredi Tesauro, Christian Zanza
Extracorporeal membrane oxygenation (ECMO) is a cardiac or pulmonary function support system that is used in cases of refractory organ failure in addition to conventional treatment. Currently, Level I evidence is not yet available, which reflects improved outcomes with ECMO in pregnant women, the use in pregnancy should be indicated in selected cases and only in specialized centers. We searched articles in the most important scientific databases from 2009 until 31 December 2023 consulting also the site ClinicalTrials...
March 13, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38536953/fetoscopic-laser-coagulation-for-twin-to-twin-transfusion-syndrome-a-comparison-of-flexible-1-0-1-2%C3%A2-mm-fetoscopes-with-curved-sheaths-of-2-7-3-3%C3%A2-mm-2-vs-2%C3%A2-mm-fetoscopic-lens-technique-with-sheaths-of-6-6-11-3%C3%A2-mm-2
#15
JOURNAL ARTICLE
Michael Tchirikov, Anja Zühlke, Natalia Schlabritz-Lutsevich, Michael Entezami, Gregor Seliger, Michael Bergner, Weijing Li, Angela Köninger, Andreas Wienke, Rustem Yusupbaev, Andreas D Ebert
OBJECTIVES: Fetoscopic laser coagulation of placental anastomoses is usually performed for a treatment of twin-to-twin transfusion syndrome (TTTS). A common complication of fetoscopic laser coagulation for TTTS is preterm preliminary rupture of fetal membranes (PPROM) aggravating the neonatal outcome significantly. However, use of an flexible 1 mm fetoscope with an curved sheath could reduce iatrogenic damage of the amniotic membrane and improve neonatal outcomes after laser treatment...
March 28, 2024: Journal of Perinatal Medicine
https://read.qxmd.com/read/38532898/cushing-s-syndrome-during-pregnancy-two-case-reports
#16
Sumita Cholekho, Yuke Liu, Huiwen Tan
BACKGROUND: Cushing's syndrome (CS) during pregnancy is a rare endocrine disorder characterized by hypercortisolism, which is significantly associated with maternal-fetal complications. Despite its rarity, CS during pregnancy may be related to a high risk of complications for both the mother and fetus.The aim of the present case study is to update the diagnostic approach to CS during pregnancy and the therapeutic strategies for this medical condition to minimize maternal-fetal complications...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38515292/acute-fetal-metabolomic-changes-in-twins-undergoing-fetoscopic-surgery-for-twin-twin-transfusion-syndrome
#17
JOURNAL ARTICLE
Braxton Forde, Samuel Martin, Miki Watanabe-Chailland, Foong-Yen Lim
Fetuses undergo major surgical stress as well as fluid shifts secondary to both twin-twin transfusion (TTTS) as well as the fetoscopic surgery for treatment of TTTS. While the pathophysiology of TTTS is understood, the acute metabolic changes that fetuses experience from fetoscopic surgery are not. We sought to evaluate the changes in recipient metabolomic profile secondary to TTTS surgery. Amniotic fluid was collected at the beginning and end of four TTTS surgical cases performed from 12/2022-2/2023. Samples were immediately processed and evaluated via NMR-based Metabolomics Facility protocol...
March 22, 2024: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://read.qxmd.com/read/38513832/germline-cancer-susceptibility-in-individuals-with-melanoma
#18
JOURNAL ARTICLE
P Funchain, Y Ni, B Heald, B Bungo, M Arbesman, T R Behera, S McCormick, J M Song, L B Kennedy, S M Nielsen, E D Esplin, E Nizialek, J Ko, C M Diaz-Montero, B Gastman, A J Stratigos, M Artomov, H Tsao, J Arbesman
BACKGROUND: Prior studies have estimated a small number of individuals with melanoma (2-2.5%) have germline cancer predisposition, yet a recent twin study suggested melanoma has the highest hereditability among cancers. OBJECTIVE: To determine the incidence of hereditary melanoma and characterize the spectrum of cancer predisposition genes that may increase the risk of melanoma. METHODS: 400 individuals with melanoma and personal or family history of cancers underwent germline testing of >80 cancer predisposition genes...
March 19, 2024: Journal of the American Academy of Dermatology
https://read.qxmd.com/read/38510082/hyperglycemia-in-pregnancy-did-not-worsen-the-short-term-outcomes-of-very-preterm-infants-a-propensity-score-matching-study
#19
JOURNAL ARTICLE
Ying Li, Wei Shen, Rong Zhang, Jian Mao, Ling Liu, Yan-Mei Chang, Xiu-Zhen Ye, Yin-Ping Qiu, Li Ma, Rui Cheng, Hui Wu, Dong-Mei Chen, Ling Chen, Ping Xu, Hua Mei, San-Nan Wang, Fa-Lin Xu, Rong Ju, Xiao-Mei Tong, Xin-Zhu Lin, Fan Wu
BACKGROUND: Hyperglycemia in pregnancy (HGP) has generally been considered a risk factor associated with adverse outcomes in offspring, but its impact on the short-term outcomes of very preterm infants remains unclear. METHODS: A secondary analysis was performed based on clinical data collected prospectively from 28 hospitals in seven regions of China from September 2019 to December 2020. According to maternal HGP, all infants were divided into the HGP group or the non-HGP group...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38482999/right-ventricular-outflow-tract-obstruction-in-twin-to-twin-transfusion-syndrome-undergoing-laser-surgery-a-systematic-review-and-meta-analysis
#20
REVIEW
Hiba J Mustafa, Muhammad Jawwad, Ayesha Iqbal Mansoor, Giorgio Pagani, Francesco D'Antonio, Asma Khalil
INTRODUCTION: We aimed to investigate the incidence, prenatal factors and outcomes of twin-to-twin transfusion (TTTS) with right ventricular outflow tract obstruction (RVOTO). MATERIAL AND METHODS: A systematic search was conducted to identify relevant studies published until February 2023 in English using the databases PubMed, Scopus and Web of Science. Studies reporting on pregnancies with TTTS and RVOTO were included. The random-effect model pooled the mean differences or odds ratios (OR) and the corresponding 95% confidence intervals...
March 14, 2024: Acta Obstetricia et Gynecologica Scandinavica
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