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https://www.readbyqxmd.com/read/28340305/the-clinical-application-of-ngs-based-snp-haplotyping-for-pgd-of-hb-h-disease
#1
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α(3.7)/αα and -(SEA)/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α(3...
March 24, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28333824/committee-opinion-no-697-planned-home-birth
#2
(no author information available yet)
In the United States, approximately 35,000 births (0.9%) per year occur in the home. Approximately one fourth of these births are unplanned or unattended. Although the American College of Obstetricians and Gynecologists believes that hospitals and accredited birth centers are the safest settings for birth, each woman has the right to make a medically informed decision about delivery. Importantly, women should be informed that several factors are critical to reducing perinatal mortality rates and achieving favorable home birth outcomes...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333817/committee-opinion-no-697-summary-planned-home-birth
#3
(no author information available yet)
In the United States, approximately 35,000 births (0.9%) per year occur in the home. Approximately one fourth of these births are unplanned or unattended. Although the American College of Obstetricians and Gynecologists believes that hospitals and accredited birth centers are the safest settings for birth, each woman has the right to make a medically informed decision about delivery. Importantly, women should be informed that several factors are critical to reducing perinatal mortality rates and achieving favorable home birth outcomes...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#4
REVIEW
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28329946/-a-cohort-study-on-association-between-the-first-trimester-phthalates-exposure-and-fasting-blood-glucose-level-in-the-third-trimester
#5
Y W Zhang, H Gao, K Huang, Y Y Xu, J Sheng, F B Tao
Objective: To examine the association between the phthalate exposure in the first trimester and fasting blood glucose level or gestational diabetes mellitus (GDM) in the third trimester in pregnant women. Methods: A total of 3 474 pregnant women, receiving their prenatal examination in Ma' anshan Maternal and Child Health-Care Hospital of Anhui province, were selected from May 2013 to September 2014. Questionnaires were used to collect the information about their socio-demographic characteristics, clinical characteristics and GDM diagnostic results in the first, second and third trimesters...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28327376/maternal-m%C3%A3-llerian-anomalies-and-future-health-of-the-offspring
#6
Adva Cahen-Peretz, Asnat Walfisch, Michael Friger, Eyal Sheiner
OBJECTIVE: To evaluate whether offspring of women with müllerian anomalies are at an increased risk for long-term pediatric morbidity. STUDY DESIGN: A population-based cohort study compared the incidence of long-term (up to the age of 18 years for offspring) hospitalizations due to cardiovascular, endocrine, neurological, hematological, respiratory and urinary morbidity of offspring to mothers diagnosed with uterine anomalies. Deliveries occurred between the years 1991 and 2013 in a tertiary medical center...
March 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28326464/meningiomas-in-pregnancy-timing-of-surgery-and-clinical-outcomes-as-observed-in-104-cases-and-establishment-of-a-best-management-strategy
#7
REVIEW
Yosef Laviv, Ahmed Bayoumi, Anand Mahadevan, Brett Young, Myles Boone, Ekkehard M Kasper
BACKGROUND: There is a strong correlation between the level of circulating female sex hormones and the parturient growth of meningiomas. As a result, rapid changes in meningioma size occur during pregnancy, putting both the mother and fetus at risk. Large, symptomatic meningiomas require surgical resection, regardless of the status of pregnancy. However, the preferred timing of such complex intervention is a matter of debate. The rarity of this clinical scenario and the absence of prospective trials make it difficult to reach evidence-based conclusions...
March 22, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28324453/analysis-of-the-main-risk-factors-for-gestational-diabetes-diagnosed-with-international-association-of-diabetes-and-pregnancy-study-groups-iadpsg-criteria-in-multiple-pregnancies
#8
M Cozzolino, C Serena, L Maggio, M P Rambaldi, S Simeone, G Mello, L Pasquini, M Di Tommaso, F Mecacci
INTRODUCTION: The aim is to investigate the proportion of multiple pregnancies with gestational diabetes mellitus (GDM) diagnosed using the International Association of Diabetes and Pregnancy Study Groups (IADPSG) criteria and to identify the impact of age, body mass index (BMI), and mode of conception on incidence of GDM. MATERIALS AND METHODS: This is a single center, retrospective cohort study on 656 multiple pregnancies screened for GDM with 75-g, 2-h oral glucose tolerance test at 24-28 weeks of gestation, between January 2010 and January 2016...
March 21, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28323086/characteristics-and-outcomes-of-very-low-birth-weight-infants-receiving-epinephrine-during-delivery-room-resuscitation
#9
Malvi Savani, Kirtikumar Upadhyay, Ajay J Talati
Background Delivery room resuscitation of very low birth weight infants can involve use of endotracheal or intravenous epinephrine. Data of the past 19 years were reviewed to identify the usage of epinephrine in delivery room and identify characteristics of these babies. METHODS: Neonates with ≤1500gm birthweight from January 1996 to August 2014 were reviewed. Infants born alive and admitted to NICU were eligible. Characteristics such as demographics, survival and outcomes were recorded...
March 17, 2017: Resuscitation
https://www.readbyqxmd.com/read/28322775/pregnancy-and-birth-outcomes-in-couples-with-infertility-with-and-without-assisted-reproductive-technology-with-an-emphasis-on-us-population-based-studies
#10
REVIEW
Barbara Luke
Infertility, defined as the inability to conceive within one year of unprotected intercourse, affects an estimated 80 million individuals worldwide, or 10-15 percent of couples of reproductive age. Assisted reproductive technology (ART) includes all infertility treatments to achieve conception; in vitro fertilization (IVF) is the process by which an oocyte is fertilized by semen outside the body; non-IVF ART treatments include ovulation induction, artificial insemination, and intrauterine insemination. Use of ART has risen steadily in the United States during the past two decades due to several reasons, including childbearing at older maternal ages and increasing insurance coverage...
March 18, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28322282/maternal-immune-activation-dysregulation-of-the-fetal-brain-transcriptome-and-relevance-to-the-pathophysiology-of-autism-spectrum-disorder
#11
M V Lombardo, H M Moon, J Su, T D Palmer, E Courchesne, T Pramparo
Maternal immune activation (MIA) via infection during pregnancy is known to increase risk for autism spectrum disorder (ASD). However, it is unclear how MIA disrupts fetal brain gene expression in ways that may explain this increased risk. Here we examine how MIA dysregulates rat fetal brain gene expression (at a time point analogous to the end of the first trimester of human gestation) in ways relevant to ASD-associated pathophysiology. MIA downregulates expression of ASD-associated genes, with the largest enrichments in genes known to harbor rare highly penetrant mutations...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28321847/antenatal-corticosteroids-for-accelerating-fetal-lung-maturation-for-women-at-risk-of-preterm-birth
#12
REVIEW
Devender Roberts, Julie Brown, Nancy Medley, Stuart R Dalziel
BACKGROUND: Respiratory morbidity including respiratory distress syndrome (RDS) is a serious complication of preterm birth and the primary cause of early neonatal mortality and disability. While researching the effects of the steroid dexamethasone on premature parturition in fetal sheep in 1969, Liggins found that there was some inflation of the lungs of lambs born at gestations at which the lungs would be expected to be airless. Liggins and Howie published the first randomised controlled trial in humans in 1972 and many others followed...
March 21, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28320512/effect-of-congenital-heart-disease-on-4-year-neurodevelopment-within-multiple-gestation-births
#13
Amy H Schultz, Richard F Ittenbach, Marsha Gerdes, Gail P Jarvik, Gil Wernovsky, Judy Bernbaum, Cynthia Solot, Robert R Clancy, Susan C Nicolson, Thomas L Spray, Donna McDonald-McGinn, Elaine Zackai, J William Gaynor
OBJECTIVES: We sought to assess the effect of congenital heart disease requiring infant surgery with cardiopulmonary bypass on neurodevelopmental outcomes and growth at 4 years of age, while matching for gestational age, socioeconomic status, maternal gestational conditions, home environment, and parental intelligence by studying multiple-gestation births. METHODS: We performed within-family comparison of 14 multiple-gestation births in which 1 child had congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age...
February 21, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28315470/the-nitric-oxide-synthase-2-pathway-is-targeted-by-both-pro-and-anti-inflammatory-treatments-in-the-immature-human-intestine
#14
Emanuela Ferretti, Eric Tremblay, Marie-Pier Thibault, David Grynspan, Karolina M Burghardt, Marcos Bettolli, Corentin Babakissa, Emile Levy, Jean-François Beaulieu
BACKGROUND AND AIM: NO synthase 2 (NOS2) was recently identified as one the most overexpressed genes in intestinal samples of premature infants with necrotizing enterocolitis (NEC). NOS2 is widely implicated in the processes of epithelial cell injury/apoptosis and host immune defense but its specific role in inflammation of the immature human intestinal mucosa remains unclear. Interestingly, factors that prevent NEC such as epidermal growth factor (EGF) attenuate the inflammatory response in the mid-gestation human small intestine using serum-free organ culture while drugs that are associated with NEC occurrence such as the non-steroidal anti-inflammatory drug, indomethacin (INDO), exert multiple detrimental effects on the immature human intestine...
March 14, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/28304319/a-case-of-infant-delirium-in-the-neonatal-intensive-care-unit
#15
L E Edwards, L B Hutchison, C D Hornik, P B Smith, C M Cotten, M Bidegain
Infant delirium is an under-recognized clinical entity in neonatal intensive care, and earlier identification and treatment could minimize morbidities associated with this condition. We describe a case of a 6-month-old former 32 weeks gestation infant undergoing a prolonged mechanical ventilation course diagnosed with delirium related to the combination of his underlying illness and the use of multiple sedative and analgesic mediations. Initiation of the atypical antipsychotic risperidone allowed for weaning from continuous infusions of benzodiazepines and opiods, and lower dosages of bolus-dosed sedation and analgesics...
March 16, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28302240/a-rare-fetal-firearm-injury
#16
Imran Hashim, Nabila Talat
Firearm injury (FAI) in pregnant women is reported in the literature; however, no reference to date was found to address the neonatal abdominal surgery performed after maternal FAI. FAI during fetal life is extremely rare and very few cases have been reported. We present a report of a 37-week gestation newborn whose mother had an accidental FAI. The neonate was delivered by emergency caesarian section along with emergency laparotomy of the newborn. The baby presented at eight hours of life, who was managed surgically in emergency for multiple small and large bowel perforations and a piece of bullet was recovered from anterior part of thigh...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28301846/programming-of-the-hypothalamus-pituitary-adrenal-axis-by-very-preterm-birth
#17
Martijn J J Finken, Bibian van der Voorn, Jonneke J Hollanders, Charlotte A Ruys, Marita de Waard, Johannes B van Goudoever, Joost Rotteveel
BACKGROUND: Many very preterm (i.e., <32 weeks of gestation) newborns fail to mount an adequate adrenocortical response to stress or illness, termed relative adrenal insufficiency. Conversely, later in life these infants show features of increased glucocorticoid bioactivity, such as abdominal adiposity, insulin resistance, raised blood pressure, shorter stature and internalizing problem behavior. SUMMARY: Studies suggested that very preterm newborns have impairments along multiple levels of the hypothalamus-pituitary-adrenal (HPA) axis...
March 17, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28301807/complete-hydatidiform-mole-with-co-existing-fetus-predictors-of-live-birth
#18
REVIEW
Manaphat Suksai, Chitkasaem Suwanrath, Ounjai Kor-Anantakul, Alan Geater, Tharangrut Hanprasertpong, Thiti Atjimakul, Aroontorn Pichatechaiyoot
Multiple gestation consisting of complete hydatidiform mole with co-existing fetus (CHMCF) is unusual. From our institution, we reported two cases with unfavorable obstetric consequences. The recommendation for antenatal management is still not distinctly determined. Therefore, the aim of this article was to review the literature according to the predictors of infant survival and to develop a management guidance for pregnancy with CHMCF. Between January 1, 1993 and May 31, 2016, 12 case series and 89 case reports comprising of 204 pregnant women were identified...
March 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#19
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28298536/pasteurization-procedures-for-donor-human-milk-affect-body-growth-intestinal-structure-and-resistance-against-bacterial-infections-in-preterm-pigs
#20
Yanqi Li, Duc Ninh Nguyen, Marita de Waard, Lars Christensen, Ping Zhou, Pingping Jiang, Jing Sun, Anders Miki Bojesen, Charlotte Lauridsen, Jens Lykkesfeldt, Trine Kastrup Dalsgaard, Stine Brandt Bering, Per Torp Sangild
Background: Holder pasteurization (HP) destroys multiple bioactive factors in donor human milk (DM), and UV-C irradiation (UVC) is potentially a gentler method for pasteurizing DM for preterm infants.Objective: We investigated whether UVC-treated DM improves gut maturation and resistance toward bacterial infections relative to HP-treated DM.Methods: Bacteria, selected bioactive components, and markers of antioxidant capacity were measured in unpasteurized donor milk (UP), HP-treated milk, and UVC-treated milk (all from the same DM pool)...
March 15, 2017: Journal of Nutrition
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