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https://www.readbyqxmd.com/read/28718264/malignant-infantile-osteopetrosis
#1
Saima Gillani, Zaheer Abbas
Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form (MIM166600) with an incidence of 1 in 20,000 births. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7) are found in most patients with recessive form. Mutations of CLCN7 are observed in dominant form of osteopetrosis .The recessive form of ostreopetrosis, i...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28711318/procalcitonin-guided-decision-making-for-duration-of-antibiotic-therapy-in-neonates-with-suspected-early-onset-sepsis-a-multicentre-randomised-controlled-trial-neopins
#2
Martin Stocker, Wendy van Herk, Salhab El Helou, Sourabh Dutta, Matteo S Fontana, Frank A B A Schuerman, Rita K van den Tooren-de Groot, Jantien W Wieringa, Jan Janota, Laura H van der Meer-Kappelle, Rob Moonen, Sintha D Sie, Esther de Vries, Albertine E Donker, Urs Zimmerman, Luregn J Schlapbach, Amerik C de Mol, Angelique Hoffman-Haringsma, Madan Roy, Maren Tomaske, René F Kornelisse, Juliette van Gijsel, Eline G Visser, Sten P Willemsen, Annemarie M C van Rossum
BACKGROUND: Up to 7% of term and late-preterm neonates in high-income countries receive antibiotics during the first 3 days of life because of suspected early-onset sepsis. The prevalence of culture-proven early-onset sepsis is 0·1% or less in high-income countries, suggesting substantial overtreatment. We assess whether procalcitonin-guided decision making for suspected early-onset sepsis can safely reduce the duration of antibiotic treatment. METHODS: We did this randomised controlled intervention trial in Dutch (n=11), Swiss (n=4), Canadian (n=2), and Czech (n=1) hospitals...
July 12, 2017: Lancet
https://www.readbyqxmd.com/read/28690615/impact-of-early-life-exposures-to-infections-antibiotics-and-vaccines-on-perinatal-and-long-term-health-and-disease
#3
REVIEW
Steven L Raymond, Jaimar C Rincon, James L Wynn, Lyle L Moldawer, Shawn D Larson
Essentially, all neonates are exposed to infections, antibiotics, or vaccines early in their lives. This is especially true for those neonates born underweight or premature. In contrast to septic adults and children who are at an increased risk for subsequent infections, exposure to infection during the neonatal period is not associated with an increased risk of subsequent infection and may be paradoxically associated with reductions in late-onset sepsis (LOS) in the most premature infants. Perinatal inflammation is also associated with a decreased incidence of asthma and atopy later in life...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28658507/antibiotics-for-neonates-born-through-meconium-stained-amniotic-fluid
#4
REVIEW
Lauren E Kelly, Sandesh Shivananda, Prashanth Murthy, Ravisha Srinivasjois, Prakeshkumar S Shah
BACKGROUND: Approximately 1 in 10 pregnancies is affected by meconium passage at delivery, which can result in meconium aspiration syndrome (MAS). MAS can cause respiratory complications and, very rarely, death. Antibiotics have been prescribed for neonates exposed to meconium in amniotic fluid, with the intention of preventing infection due to potential bacterial contaminants. OBJECTIVES: We conducted this review to assess the efficacy and safety of antibiotics for:1...
June 28, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28653766/extension-of-the-phenotype-of-biallelic-loss-of-function-mutations-in-slc25a46-to-the-severe-form-of-pontocerebellar-hypoplasia-type-i
#5
M C Braunisch, H Gallwitz, A Abicht, I Diebold, E Holinski-Feder, L Van Maldergem, M Lammens, R Kovács-Nagy, B Alhaddad, T M Strom, T Meitinger, J Senderek, S Rudnik-Schöneborn, T B Haack
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826) and congenital lethal pontocerebellar hypoplasia (PCH). To date, 18 patients from 13 families have been reported, presenting with the key clinical features of optic atrophy, peripheral neuropathy, and cerebellar atrophy. The course of the disease was highly variable ranging from severe muscular hypotonia at birth and early death to first manifestations in late childhood and survival into the fifties...
June 27, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28613398/fetal-and-umbilical-doppler-ultrasound-in-high-risk-pregnancies
#6
REVIEW
Zarko Alfirevic, Tamara Stampalija, Therese Dowswell
BACKGROUND: Abnormal blood flow patterns in fetal circulation detected by Doppler ultrasound may indicate poor fetal prognosis. It is also possible that false positive Doppler ultrasound findings could lead to adverse outcomes from unnecessary interventions, including preterm delivery. OBJECTIVES: The objective of this review was to assess the effects of Doppler ultrasound used to assess fetal well-being in high-risk pregnancies on obstetric care and fetal outcomes...
June 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28589019/provider-initiated-delivery-late-preterm-birth-and-perinatal-mortality-a-secondary-analysis-of-the-who-multicountry-survey-on-maternal-and-newborn-health
#7
Naho Morisaki, Xun Zhang, Togoobaatar Ganchimeg, Joshua P Vogel, Joo Paulo Dias Souza, Jose G Cecatti, Maria Regina Torloni, Erika Ota, Rintaro Mori, Suneeta Mittal, Suzanne Tough, Siobhan Dolan, Michael S Kramer
INTRODUCTION: In high-income countries, a reduced clinical threshold for obstetric interventions such as labour induction (LI) and prelabour caesarean delivery (PLCD) has played a substantial role in increasing rates of late preterm births. However, the association between provider-initiated delivery and perinatal outcomes have not been studied in a multicountry setting including low-income and middle-income countries. METHODS: 286 hospitals in 29 countries participated in the WHO Multi-Country Survey on Maternal and Newborn Health and yielded 2 52 198 singleton births of at least 34 weeks in 2010-2011...
March 2017: BMJ Global Health
https://www.readbyqxmd.com/read/28569435/the-new-kids-on-the-block-of-arrhythmogenic-disorders-short-qt-syndrome-and-early-repolarization
#8
REVIEW
Andrea Mazzanti, Katherine Underwood, Dmitriy Nevelev, Shanna Kofman, Silvia G Priori
Short QT syndrome (SQTS) is one of the rarest inheritable cardiac channelopathies, characterized by an accelerated cardiac repolarization, which is also the substrate for the development of life-threatening ventricular arrhythmias. Up to this date, fewer than 200 SQTS cases have been reported in the literature worldwide. Patients with SQTS may experience a cardiac arrest as early as in the neonatal period or as late as 80 years old. The cumulative probability of experiencing a cardiac arrest by the fifth decade of life approaches 40%, highlighting the importance of early recognition and management...
June 1, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28526452/gestational-age-at-initiation-of-17-alpha-hydroxyprogesterone-caproate-and-recurrent-preterm-birth
#9
Angela Ning, Catherine J Vladutiu, Sarah K Dotters-Katz, William H Goodnight, Tracy A Manuck
BACKGROUND: Preterm birth is the leading cause of neonatal morbidity and mortality in nonanomalous neonates in the United States. Women with a previous early spontaneous preterm birth are at highest risk for recurrence. Weekly intramuscular 17-alpha hydroxyprogesterone caproate reduces the risk of recurrent prematurity. Although current guidelines recommend 17-alpha hydroxyprogesterone caproate initiation between 16 and 20 weeks, in clinical practice, 17-alpha hydroxyprogesterone caproate is started across a spectrum of gestational ages...
May 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28526027/description-of-inter-institutional-referrals-after-admission-for-labor-and-delivery-a-prospective-population-based-cohort-study-in-rural-maharashtra-india
#10
Archana B Patel, Amber Abhijeet Prakash, Camille Raynes-Greenow, Yamini V Pusdekar, Patricia L Hibberd
BACKGROUND: In 2008, the Indian government introduced financial assistance to encourage health facility deliveries. Facility births have increased, but maternal and neonatal morbidity and mortality have not decreased raising questions about the quality of care provided in facilities and access to a quality referral system. We evaluated the potential role of inter-institutional transfers of women admitted for labor and delivery on adverse maternal and neonatal outcomes in an ongoing prospective, population-based Maternal and Newborn Health Registry in Central India...
May 19, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28484354/implementation-of-congenital-heart-diseases-screening-at-the-bihac-cantonal-hospital
#11
Mediha Kardasevic, Ida Jovanovic, Jelica Predojevic Samardzic
INTRODUCTION: Congenital heart defects (CHD) were the most common birth defects, and the most common cause of death in infants with congenital anomalies in developed countries. Early detection of these anomalies would greatly enhance the effect of therapeutic procedures and the final outcome. Lately, pulse oximetry (PO) is used for the purpose of screening the cyanotic congenital heart defects. PO in combination with the clinical examination has greater diagnostic sensitivity in detection of CHD...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28398683/update-on-syphilis-and-pregnancy
#12
REVIEW
Michael E Tsimis, Jeanne S Sheffield
While the origins of syphilis remain unknown, it has long been recognized as an infectious entity with complex pathophysiology. In this review, we highlighted the epidemiology and risk factors associated with syphilis. The incidence of syphilis in most populations showed a consistent upward trend until the 1940s with the introduction of penicillin as the preferred treatment. The emergence of congenital syphilis and vertical transmission has been a direct result of heterosexual syphilis transmission. We also explore the microbiology and pathogenesis of Treponema pallidum as it directly correlates with its route of transmission and infectivity...
March 15, 2017: Birth defects research
https://www.readbyqxmd.com/read/28394960/-rising-infant-mortality-in-down-syndrome-in-chile-from-1997-to-2013
#13
Enrique Donoso, Claudio Vera
BACKGROUND: Down syndrome (DS) is associated with higher child mortality especially due to cardiac malformations. AIM: To describe the trend in Chilean infant mortality in DS in the period 1997-2013 as compared to the general population without DS. MATERIAL AND METHODS: Raw data on infant deaths were extracted from the yearbooks of vital statistics of the National Institute of Statistics. The mortality risk associated to DS, relative to population without DS was estimated...
November 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28377234/potential-biomarkers-for-effective-screening-of-neonatal-sepsis-infections-an-overview
#14
REVIEW
Nidhi Chauhan, Sukirti Tiwari, Utkarsh Jain
Neonatal sepsis, a clinical disorder developed by bacterial blood stream infections (BSI) in neonates, is one of the serious global public health problems that must be addressed. More than one million of the estimated global newborn deaths per year are occurred due to severe infections. The genesis of the infection is divided into early-onset sepsis (EOS) and late-onset sepsis (LOS) of the disease. The clinical complications of neonatal sepsis may be associated with bronchopulmonary dysplasia, ductus arteriosus and necrotizing enterocolitis...
June 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28332100/expression-of-programmed-death-1-and-its-ligands-in-the-liver-of-biliary-atresia
#15
Pan-Liang Wang, Jun Wang, Ying Zhou, Xiao-Song Chen, Ke-Jun Zhou, Jie Wen, Jian-Jun Zhang, Wei Cai
BACKGROUND: An aberrant immune response is the predominant pathogenetic factor in biliary atresia (BA). Programmed death-1 (PD-1) and its two ligands, programmed death ligand-1 and programmed death ligand-2 (PD-L1 and PD-L2, respectively) play an important inhibitory role in immune reactions. We aimed to illustrate the expression of these molecules in BA. METHODS: Liver specimens were obtained from infants with BA during the Kasai procedure (early BA) and liver transplantation (late BA)...
March 22, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28329313/single-coronary-artery-and-neonatal-arterial-switch-operation-early-and-long-term-outcomes%C3%A2
#16
Sébastien Gerelli, Margaux Pontailler, Bruno Rochas, Emanuela Angeli, Mathieu Van Steenberghe, Damien Bonnet, Pascal Vouhé, Olivier Raisky
OBJECTIVES: The presence of single coronary artery (CA) in the arterial switch operation (ASO) for neonatal treatment with transposition of the great arteries (TGA) has been reported to be an independent risk factor for early death after surgical repair and late reintervention. The study objective was to evaluate the mortality and the CA stenosis risk at early and long term in neonatal ASO for TGA and single CA. METHODS: Between January 1987 and January 2010, 979 neonates underwent an ASO, of which 73 had a single CA (7...
March 7, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28321847/antenatal-corticosteroids-for-accelerating-fetal-lung-maturation-for-women-at-risk-of-preterm-birth
#17
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/28302241/neonatal-appendicitis-as-a-rare-cause-of-intestinal-perforation-in-a-preterm-neonate
#18
Seda Yilmaz Semerci, Dilek Kurnaz, Aslan Babayigit, Burcu Cebeci, Gokhan Buyukkale, Merih Cetinkaya, Unal Guvenc, Ozge Kucur
Intestinal perforation or inflammation due to appendicitis is rarely encountered in the neonatal period. The diagnosis may be delayed due to the lack of specific clinical symptoms and its rarity in this patient population. Early surgical treatment is the main treatment strategy with a good prognosis. However, delayed diagnosis may result in complications and even death. Herein, we describe a late preterm female neonate without any risk factors who had a diagnosis of perforated appendicitis at postnatal day 5...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28277909/late-preterm-and-early-term-when-to-induce-a-growth-restricted-fetus-a-population-based-study
#19
Alex Rabinovich, Tehila Tsemach, Lena Novack, Moshe Mazor, Tal Rafaeli-Yehudai, Orna Staretz-Chacham, Ruth Beer-Weisel, Vered Klaitman-Mayer, Salvatore A Mastrolia, Offer Erez
PURPOSE: (1) Compare fetal and neonatal morbidity and mortality associated with induction of labor (IOL) versus expectant management (EM) in women with isolated fetal growth restriction (FGR) between 34(0/7) and 38(6/7) weeks; (2) Determine optimal gestational age for delivery of such fetuses. MATERIALS AND METHODS: A retrospective population based cohort study of 2232 parturients with isolated FGR, including two groups: (1) IOL (n = 1428); 2) EM (n = 804)...
March 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28241870/trial-of-labour-after-caesarean-section-and-the-risk-of-neonatal-and-infant-death-a-nationwide-cohort-study
#20
Sinéad M O'Neill, Esben Agerbo, Ali S Khashan, Patricia M Kearney, Tine Brink Henriksen, Richard A Greene, Louise C Kenny
BACKGROUND: Caesarean section (CS) rates are increasing worldwide and as a result repeat CS is common. The optimal mode of delivery in women with one previous CS is widely debated and the risks to the infant are understudied. The aim of the current study was to evaluate if women with a trial of labour after caesarean (TOLAC) had an increased odds of neonatal and infant death compared to women with an elective repeat CS (ERCS). METHODS: A population register-based cohort study was conducted in Denmark between 1982 and 2010...
February 27, 2017: BMC Pregnancy and Childbirth
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