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https://www.readbyqxmd.com/read/29677005/maged2-a-novel-form-of-antenatal-bartter-s-syndrome
#1
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: Antenatal Bartter's syndrome (aBS) is the most severe form of Bartter's syndrome, requiring close follow-up, in particular during the neonatal period, primarily because of prematurity. The recent identification of a novel and very severe form of aBS merits an update on this topic. RECENT FINDING: Despite the identification of several genes involved in Bartter's syndrome, about 20% of patients clinically diagnosed with aBS remained without genetic explanation for decades...
April 18, 2018: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/29675080/mycotic-cerebral-aneurysm-in-a-premature-infant
#2
John T Meadows, Don Hayes, Luis Rafael Moscote-Salazar, Willem Guillermo Calderon-Miranda
Mycotic cerebral aneurysms in neonates are extremely rare and can be difficult to diagnose without a high index of suspicion. We describe a 33-week gestation preterm neonate who developed a mycotic cerebral aneurysm leading to death before repair could be performed. We believe this to be the first literature reported case of a mycotic cerebral aneurysm in a preterm infant. This case revives the ongoing question of when to perform a lumbar puncture in a potentially septic or meningitic infant, while also casting light on maintaining a high index of suspicion for rare intracranial diagnoses that require cranial imaging...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29673003/prenatal-diagnosis-of-premature-chromatid-separation-mosaic-variegated-aneuploidy-pcs-mva-syndrome
#3
Tomoko Yamaguchi, Masatoshi Yamaguchi, Keiko Akeno, Midori Fujisaki, Kaeko Sumiyoshi, Masanao Ohashi, Hiroshi Sameshima, Mamoru Ozaki, Maki Kato, Takema Kato, Eriko Hosoba, Hiroki Kurahashi
Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (-5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers...
April 19, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29666098/a-misplaced-peripherally-inserted-central-catheter-presenting-as-contralateral-pleural-effusion
#4
Jogender Kumar, Sudeep K C, Kanya Mukhopadhyay, Somosri Ray
A preterm neonate born at 27 weeks, with a birth weight of 555 g, was on continuous positive airway pressure (CPAP) for apnoea of prematurity and initially received total parenteral nutrition (TPN) through the umbilical venous catheter. Peripherally inserted central catheter (PICC) was inserted in the left basilica vein on day 8 to continue TPN. The baby developed respiratory distress with persistent hypoxia after TPN was initiated through the PICC line. The baby required mechanical ventilation due to worsening of respiratory distress, and chest X-ray, as well as ultrasound conducted 12 hours, postinfusion of TPN revealed right-sided pleural effusion...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29664506/continuous-venovenous-hemofiltration-in-neonates-with-hyperammonemia-a-case-series
#5
Felipe Cavagnaro Santa María, Jorge Roque Espinosa, Pamela Guerra Hernández
INTRODUCTION: Neonatal hyperammonemia secondary due to inborn errors of metabolism is a rare condition with a high rate of neurological sequelae and mortality. Initial medical management is often insufficient to stop the progressive increase of ammonia, with the consequent deterioration of the patient. For this reason, depurative techniques have been implemented, including peritoneal dialysis, intermittent hemodialysis and continuous renal replacement therapy (CRRT). OBJECTIVE: To describe our experience with continuous extracorporeal dialysis in severely ill neonates with hyperammonemia...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664499/ambulatory-blood-pressure-monitoring-in-school-children-with-a-history-of-extreme-prematurity
#6
Andrea Solís, Jaime Cerda, Claudia González
INTRODUCTION: Extremely premature children have a higher incidence of High Blood Pressure (HBP) and risk of renal damage due to decreased glomerular count with consequent hyperfiltration of the remnants. OBJECTIVES: To assess the prevalence of altered blood pressure values in outpatient measurement and ambulatory blood pressure monitoring (ABPM) in preterm infants ≤ 32 weeks and/ or ≤ 1,500 g birth weight between 5 and 7 years of age, as well as the presence of early renal damage markers...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664498/-hypophosphatemia-in-preterm-infants-a-bimodal-disorder
#7
María Paz Cubillos Celis, Patricia Mena Nannig
New nutritional approaches to treat extreme premature babies have demonstrated relevant eviden ce of metabolic disturbances with early hypophosphatemia, especially in patients with intrauterine growth restriction (IUGR). They have shown late hypophosphatemia, as well, which is characteristic in the metabolic bone disease. A sytematic search of literature describing metabolic disturbances of phosphorus in preterm newborns is presented, related to the use of early parenteral nutrition and also in the context of metabolic bone disease...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29661562/initial-metabolic-profiles-are-associated-with-7-day-survival-among-infants-born-at-22-25-weeks-of-gestation
#8
Scott P Oltman, Elizabeth E Rogers, Rebecca J Baer, James G Anderson, Martina A Steurer, Matthew S Pantell, J Colin Partridge, Larry Rand, Kelli K Ryckman, Laura L Jelliffe-Pawlowski
OBJECTIVE: To evaluate the association between early metabolic profiles combined with infant characteristics and survival past 7 days of age in infants born at 22-25 weeks of gestation. STUDY DESIGN: This nested case-control consisted of 465 singleton live births in California from 2005 to 2011 at 22-25 weeks of gestation. All infants had newborn metabolic screening data available. Data included linked birth certificate and mother and infant hospital discharge records...
April 13, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29659125/extremely-preterm-children-exhibit-increased-interhemispheric-connectivity-for-language-findings-from-fmri-constrained-meg-analysis
#9
Maria E Barnes-Davis, Stephanie L Merhar, Scott K Holland, Darren S Kadis
Children born extremely preterm are at significant risk for cognitive impairment, including language deficits. The relationship between preterm birth and neurological changes that underlie cognitive deficits is poorly understood. We use a stories-listening task in fMRI and MEG to characterize language network representation and connectivity in children born extremely preterm (n = 15, <28 weeks gestation, ages 4-6 years), and in a group of typically developing control participants (n = 15, term birth, 4-6 years)...
April 16, 2018: Developmental Science
https://www.readbyqxmd.com/read/29630152/lamellar-ichthyosis-in-a-female-neonate-without-a-collodion-membrane
#10
Kevin Chao, Maria Aleshin, Zachary Goldstein, Scott Worswick, Marcia Hogeling
The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. We report a premature female neonate presenting with hyperkeratotic scaling at birth without a collodion membrane...
February 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29629845/ticagrelor-in-peripheral-artery-disease-endovascular-revascularization-ti-pad-challenges-in-clinical-trial-execution
#11
R Kevin Rogers, William R Hiatt, Manesh R Patel, Mehdi H Shishehbor, Robin White, Naeem D Khan, Narinder P Bhalla, W Schuyler Jones, Cecilia C Low Wang
There is limited evidence to guide clinical decision-making for antiplatelet therapy in peripheral artery disease (PAD) in the setting of lower extremity endovascular treatment. The Ticagrelor in Peripheral Artery Disease Endovascular Revascularization Study (TI-PAD) evaluated the role of ticagrelor versus aspirin as monotherapy in the management of patients following lower extremity endovascular revascularization. The trial failed to recruit the targeted number of patients, likely due to aspects of the design including the lack of option for dual antiplatelet therapy, and inability to identify suitable patients at study sites...
April 1, 2018: Vascular Medicine
https://www.readbyqxmd.com/read/29627188/maternal-black-race-and-persistent-wheezing-illness-in-former-extremely-low-gestational-age-newborns-secondary-analysis-of-a-randomized-trial
#12
Katherine C Wai, Anna M Hibbs, Martina A Steurer, Dennis M Black, Jeanette M Asselin, Eric C Eichenwald, Philip L Ballard, Roberta A Ballard, Roberta L Keller
OBJECTIVE: To evaluate the relationship between maternal self-reported race/ethnicity and persistent wheezing illness in former high-risk, extremely low gestational age newborns, and to quantify the contribution of socioeconomic, environmental, and biological factors on this relationship. STUDY DESIGN: We assessed persistent wheezing illness determined at 18-24 months corrected (for prematurity) age in survivors of a randomized trial. Parents/caregivers were surveyed for wheeze and inhaled asthma medication use quarterly to 12 months, and at 18 and 24 months...
April 4, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29617782/epicardial-permanent-pacemaker-implantation-in-the-retrosternal-space-of-a-2-3-kg-infant
#13
Bongyeon Sohn, Jae Gun Kwak, Jae Hong Lim, Woong-Han Kim
Permanent pacemaker implantation in small infants can be challenging because of patient size and expected somatic growth. In our case, we used the retrosternal space as a generator pocket for an extremely low-birth-weight premature baby with autoantibody-associated congenital heart block born to a systemic lupus erythematosus mother.
March 29, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29610159/use-of-insulin-glargine-in-the-management-of-neonatal-hyperglycemia-in-an-elbw-infant
#14
Min J Hwang, Robert Newman, Katherine Philla, Elizabeth Flanigan
Neonatal hyperglycemia is common in extremely low birth weight (ELBW) infants because of physiologic stress, exogenous glucose infusion, and postnatal corticosteroid therapy for hypotension, adrenal insufficiency, and pulmonary immaturity. The use of long-acting insulin glargine has been described in the treatment of transient neonatal diabetes in the premature infant, but in these reports is a lack of regard to its use in the treatment of iatrogenic neonatal hyperglycemia. We present the case of an ELBW infant with significant hyperglycemia that was refractory to usual treatment but demonstrated a favorable response to long-acting subcutaneous insulin glargine...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29605270/pumpless-arteriovenous-extracorporeal-membrane-oxygenation-a-novel-mode-of-respiratory-support-in-a-lamb-model-of-congenital-diaphragmatic-hernia
#15
Emily A Partridge, Marcus G Davey, Matthew Hornick, Kevin C Dysart, Aliza Olive, Robert Caskey, James T Connelly, Holly L Hedrick, William H Peranteau, Alan W Flake
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is commonly required in neonates with congenital diaphragmatic hernia (CDH) complicated by pulmonary hypertension (PH). ECMO carries significant risk, and is contraindicated in the setting of extreme prematurity or intracranial hemorrhage. Pumpless arteriovenous ECMO (P-ECMO) may represent an alternative for respiratory support. The present study summarizes our initial experience with P-ECMO in a lamb model of CDH. STUDY DESIGN: Surgical creation of CDH was performed at 65-75days' gestation...
March 9, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29605266/gastrointestinal-mucosal-development-and-injury-in-premature-lambs-supported-by-the-artificial-placenta
#16
Jennifer S McLeod, Joseph T Church, Prathusha Yerramilli, Megan A Coughlin, Elena M Perkins, Raja Rabah, Robert H Bartlett, Alvaro Rojas-Pena, Joel K Greenson, Erin E Perrone, George B Mychaliska
BACKGROUND: An Artificial Placenta (AP) utilizing extracorporeal life support (ECLS) could revolutionize care of extremely premature newborns, but its effects on gastrointestinal morphology and injury need investigation. METHODS: Lambs (116-121days GA, term=145; n=5) were delivered by C-section, cannulated for ECLS, had total parenteral nutrition (TPN) provided, and were supported for 7days before euthanasia. Early and Late Tissue Controls (ETC, n=5 and LTC, n=5) delivered at 115-121days and 125-131days, respectively, were immediately sacrificed...
March 8, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29599068/acute-responses-to-diuretic-therapy-in-extremely-low-gestational-age-newborns-results-from-the-prematurity-and-respiratory-outcomes-program-cohort-study
#17
Carol J Blaisdell, James Troendle, Anne Zajicek
OBJECTIVE: To determine if daily respiratory status improved more in extremely low gestational age (GA) premature infants after diuretic exposure compared with those not exposed in modern neonatal intensive care units. STUDY DESIGN: The Prematurity and Respiratory Outcomes Program (PROP) was a multicenter observational cohort study of 835 extremely premature infants, GAs of 230/7 -286/7 weeks, enrolled in the first week of life from 13 US tertiary neonatal intensive care units...
March 20, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29596733/skin-barrier-in-the-neonate
#18
Alain Taïeb
The purpose of this review is to focus on determinants of skin barrier function in neonates at molecular and cellular levels. The skin barrier is critical in terms of water and gas exchanges during fetal life and undergoes rapid changes at birth, followed by a progressive maturation. Consequences of skin barrier disruption can be extremely detrimental or lethal, as shown in severe genetic epidermal defects. In this context, the fine-tuned rapid adaptation from a liquid to a gaseous milieu is not fully understood...
March 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29594050/ultrasound-measurements-of-thyroid-gland-volume-at-36-weeks-corrected-gestational-age-in-extremely-preterm-infants-born-before-28-weeks-gestation
#19
Sze May Ng, Mark A Turner, Shivaram Avula
Background: Thyroid ultrasound is a non-invasive imaging tool and provides good evaluation of thyroid anatomy, location, vascularisation, and echogenicity. The aim of this study was to assess thyroid function and thyroid volume in extremely preterm infants born before 28 weeks' gestation evaluated at 36 weeks' corrected gestational age (CGA) compared to term infants' normative data in the literature. Design: In this largest prospective UK study of extremely premature infants born at less than 28 weeks' gestation, thyroid volume measurement was assessed at 36 weeks' CGA...
January 2018: European Thyroid Journal
https://www.readbyqxmd.com/read/29575641/nt-pro-bnp-a-marker-for-worsening-respiratory-status-and-mortality-in-infants-and-young-children-with-pulmonary-hypertension
#20
Shahnawaz M Amdani, Muhammad Umair M Mian, Ron L Thomas, Robert D Ross
AIM: To evaluate predictors of morbidity and mortality in pediatric patients with pulmonary hypertension (PH), laboratory and echocardiographic measures of PH were analyzed. METHODS: A retrospective review of all infants and children < 2 years of age with PH from January 2011 to August 2016 was conducted. Correlations were determined using Spearman's rank correlation coefficients. Differences in characteristics between survivors and nonsurvivors were analyzed and Kaplan-Meier survival curves were generated...
March 25, 2018: Congenital Heart Disease
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