337,822 results match your criteria Congenital Patterned Leukodermas


Oxygen Saturation and Perfusion Index-Based Enhanced Critical Congenital Heart Disease Screening.

Am J Perinatol 2019 Apr 19. Epub 2019 Apr 19.

Department of Pediatrics, University of California, Davis, Sacramento, California.

Objective:  To determine if addition of perfusion index (PIx) to oxygen saturation (SpO) screening improves detection of critical congenital heart disease (CCHD) with systemic outflow obstruction.

Study Design:  We determined screening thresholds for PIx and applied these to a cohort of newborns with and without congenital heart disease (CHD).

Results:  A total of 123 normal and 21 CHD newborns (including five with critical systemic outflow obstruction) were enrolled. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1685445
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http://dx.doi.org/10.1055/s-0039-1685445DOI Listing
April 2019
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Clinical outcome of V-Y flap with latissimus dorsi and gluteal advancement for treatment of large thoracolumbar myelomeningocele defects: a comparative study.

J Neurosurg Pediatr 2019 Apr 19:1-10. Epub 2019 Apr 19.

1Department of Neurosurgery.

OBJECTIVESurgical repair and closure of myelomeningocele (MMC) defects are important and vital, as the mortality rate is as high as 65%-70% in untreated patients. Closure of large MMC defects is challenging for pediatric neurosurgeons and plastic surgeons. The aim of the current study is to report the operative characteristics and outcome of a series of Iranian patients with large MMC defects utilizing the V-Y flap and with latissimus dorsi or gluteal muscle advancement. Read More

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http://dx.doi.org/10.3171/2019.1.PEDS18232DOI Listing

Predictors of endoscopic third ventriculostomy ostomy status in patients who experience failure of endoscopic third ventriculostomy with choroid plexus cauterization.

J Neurosurg Pediatr 2019 Apr 19:1-6. Epub 2019 Apr 19.

1Surgical Outcomes Center for Kids, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville.

OBJECTIVEAt failure of endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC), the ETV ostomy may be found to be closed or open. Failure with a closed ostomy may indicate a population that could benefit from evolving techniques to keep the ostomy open and may be candidates for repeat ETV, whereas failure with an open ostomy may be due to persistently abnormal CSF dynamics. This study seeks to identify clinical and radiographic predictors of ostomy status at the time of ETV/CPC failure. Read More

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https://thejns.org/view/journals/j-neurosurg-pediatr/aop/art
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http://dx.doi.org/10.3171/2019.2.PEDS18743DOI Listing
April 2019
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The effect of atorvastatin on cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia: A pilot study.

Pharmacol Rep 2019 Jan 31;71(3):417-421. Epub 2019 Jan 31.

Department of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Katowice, Poland.

Background: Individuals with non-classic congenital adrenal hyperplasia (NC-CAH) often show evidence of hyperandrogenism, including premature pubarche, accelerated linear growth velocity, short final height, hirsutism, acne, alopecia, impaired ovulation, menstrual dysfunction and subfertility. Although statins were found to reduce elevated levels of androgens in subjects with this disorder, no previous study has investigated whether 3-hydroxy-3-methylglutaryl-CoA reductase inhibitors affect cardiometabolic risk factors in patients with NC-CAH.

Methods: We studied 12 women with NC-CAH, 6 of whom because of coexisting hypercholesterolemia received atorvastatin (20-40 mg daily). Read More

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http://dx.doi.org/10.1016/j.pharep.2019.01.014DOI Listing
January 2019

From crisis to self-confidence and adaptation; Experiences of being a parent of a child with VACTERL association - A complex congenital malformation.

PLoS One 2019 19;14(4):e0215751. Epub 2019 Apr 19.

Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.

Aim: Knowledge is scarce regarding mothers' and fathers' experiences of being a parent of a child with VACTERL association-a complex malformation. The aim of the study was to describe experiences of being a parent of a child with VACTERL association.

Method: Semi-structured interviews were performed with ten mothers and nine fathers face-to-face or by telephone and analyzed by using Qualitative content analysis. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215751PLOS
April 2019
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Human genotyping and an experimental model reveal NPR-C as a possible contributor to morbidity in coarctation of the aorta.

Physiol Genomics 2019 Apr 19. Epub 2019 Apr 19.

Department of Surgery, Division of Cardiothoracic Surgery, Medical College of Wisconsin.

Coarctation of the aorta (CoA) is a common congenital cardiovascular (CV) defect characterized by a stenosis of the descending thoracic aorta. Treatment exists, but many patients develop hypertension (HTN). Identifying the cause of HTN is challenging because of patient variability (e. Read More

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http://dx.doi.org/10.1152/physiolgenomics.00049.2018DOI Listing

Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth.

Acta Paediatr 2019 Apr 19. Epub 2019 Apr 19.

Neonatology Department, Hospital Universitario La Paz, Hospital La Paz Institute for Health Research, Madrid, Spain.

Aim: We describe the postnatal weight gain, linear and head growth trends of surviving preterm infants from 2005 to 2017.

Methods: Multicentre cohort study, including surviving preterm infants < 32 weeks (n=21,084), from the Spanish Neonatal Network database, without major congenital malformations who were less than 50 weeks postmenstrual age at discharge. Outcomes were weight gain (g/kg/day), linear and head growth (cm/week) and changes in weight, length and head circumference z-scores from birth to discharge. Read More

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http://dx.doi.org/10.1111/apa.14819DOI Listing

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.

Fetal Pediatr Pathol 2019 Apr 19:1-6. Epub 2019 Apr 19.

a Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara , Guadalajara , Jalisco , Mexico.

Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1603256DOI Listing
April 2019
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A Newborn with Congenital Hyperinsulinism.

Fetal Pediatr Pathol 2019 Apr 19:1-6. Epub 2019 Apr 19.

a Chengdu Women's and Children's Central Hospital , Chengdu , Sichuan , PR China.

Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI).

Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained.

Results: There were two mutations in the ABCC8 gene, c. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1603255DOI Listing
April 2019
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First use and limitations of Magmaris® bioresorbable stenting in a low birth weight infant with native aortic coarctation.

Catheter Cardiovasc Interv 2019 Apr 19. Epub 2019 Apr 19.

Department of Pediatric Cardiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

We, herein, report the first use of a Magmaris® magnesium-based vascular scaffold for native aortic coarctation in a 1,980 g infant with multiple malformations. Due to the low body weight, complex illness, and clinical instability, it was decided to delay surgical correction. After insufficient results had been obtained by balloon angioplasty, Magmaris® implantation was chosen to bridge the patient to surgery by stabilizing left ventricular function and to allow for sufficient growth. Read More

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http://dx.doi.org/10.1002/ccd.28300DOI Listing

Adrenal Morphology and Associated Comorbidities in Congenital Adrenal Hyperplasia.

Clin Endocrinol (Oxf) 2019 Apr 18. Epub 2019 Apr 18.

The National Institutes of Health Clinical Center, Bethesda, Maryland, 20892.

Objective: Adrenonodular hyperplasia and tumor formation are potential long-term complications of congenital adrenal hyperplasia (CAH) with little known regarding the clinical implications. Our aim was to describe volumetric adrenal morphology and determine the association between radiological findings and comorbidities in adults with classic CAH.

Design: This was a cross-sectional study of 88 patients (mean age 29. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cen.13996
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http://dx.doi.org/10.1111/cen.13996DOI Listing
April 2019
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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Pediatr Nephrol 2019 Apr 17. Epub 2019 Apr 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

Background: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. Read More

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http://link.springer.com/10.1007/s00467-019-04256-0
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http://dx.doi.org/10.1007/s00467-019-04256-0DOI Listing
April 2019
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Congenital Transmission of After Experimental Reinfection With Brazilian Typical Strains in Chronically Infected Sheep.

Front Vet Sci 2019 2;6:93. Epub 2019 Apr 2.

Department of Preventive Veterinary Medicine, Faculty of Veterinary Medicine and Animal Science (FMVZ), University of São Paulo, São Paulo, Brazil.

is a cause of congenital diseases, miscarriages and stillbirths in production animals. In Brazil, non-archetypal genotypes of the parasite may be related to severe disease. Experimental infection with was studied in sheep to analyse congenital transmission-related parameters in reinfections with different Brazilian parasite strains. Read More

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http://dx.doi.org/10.3389/fvets.2019.00093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454189PMC

A Predictive Model of Postnatal Surgical Intervention in Children With Prenatally Detected Congenital Anomalies of the Kidney and Urinary Tract.

Front Pediatr 2019 2;7:120. Epub 2019 Apr 2.

Department of Public Health, Erasmus University Medical Center, Rotterdam, Netherlands.

The aim of this study was to identify predictive factors and develop a model to assess individualized risk of postnatal surgical intervention in patients with antenatal hydronephrosis. This is a retrospective cohort study of 694 infants with prenatally detected congenital anomalies of kidney and urinary tract with a median follow-up time of 37 months. The main event of interest was postnatal surgical intervention. Read More

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http://dx.doi.org/10.3389/fped.2019.00120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454042PMC
April 2019
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Effectiveness of Prenatal Intervention on the Outcome of Diseases That Have a Postnatal Urological Impact.

Front Pediatr 2019 2;7:118. Epub 2019 Apr 2.

Department of Urology, Charité Medical University of Berlin, Berlin, Germany.

We reviewed the literature addressing outcomes of fetal intervention of conditions that require post-natal urological management including lower urinary tract obstruction, hydrometrocolpos, congenital adrenal hyperplasia, and myelomeningocele. Despite several decades of fetal intervention for these conditions, benefits remain elusive in part because of the enormous difficulty of conducting prospective randomized studies. In this review, we reached the following conclusions: Prenatal intervention in lower urinary tract obstruction (LUTO) improves survival in the worst cases by improving pulmonary function and it may be advantageous for renal function, particularly in patients with adverse urine parameters. Read More

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https://www.frontiersin.org/article/10.3389/fped.2019.00118/
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http://dx.doi.org/10.3389/fped.2019.00118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454137PMC
April 2019
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Neonatal Chylothoraces: A 10-Year Experience in a Tertiary Neonatal Referral Centre.

Case Rep Pediatr 2019 13;2019:3903598. Epub 2019 Mar 13.

Neonatal Intensive Care Centre, Kings College Hospital NHS Foundation Trust, Denmark Hill, London SE5 9RS, UK.

Background: Neonatal chylothorax is a rare condition, but has a high mortality.

Study Objectives: To analyse the outcomes of a series of neonates with chylothorax and review the literature to determine best practice.

Design: A case series review and a literature review using electronic databases including the key words neonates and chylothorax. Read More

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https://www.hindawi.com/journals/cripe/2019/3903598/
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http://dx.doi.org/10.1155/2019/3903598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436362PMC
March 2019
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Oral manifestations of ellis-van creveld syndrome. A rare case report.

J Clin Exp Dent 2019 Mar 1;11(3):e290-e295. Epub 2019 Mar 1.

PhD, MD, DDS. Head of Oral and Maxillofacial Surgery Section of the La Paz University Hospital. Co-Director of the Service of Maxillofacial Surgery and Dentistry of Hospital la Luz. Head of the Oral and Maxillofacial Surgery Service, Alcorcon Southern Hospital.

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases orofacial anomalies. We describe a clinical case of a 9 year old male patient diagnosed with EVC who visited our Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as dental agenesis, delayed eruption, hypoplasia of the enamel, dental dysmorphism, taurodontism and supernumerary teeth. EVC syndrome is a rare disease and requires a multidisciplinary approach. Read More

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http://dx.doi.org/10.4317/jced.55543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461737PMC

Dorsal Spinal Intradural Intramedullary Epidermoid Cyst: A Rare Case Report and Review of Literature.

J Neurosci Rural Pract 2019 Apr-Jun;10(2):352-354

Department of Pathology, Osmania Medical College, Hyderabad, Telangana, India.

Epidermoid cysts are commonly seen intracranial lesions but their occurrence in the spine is rare. They account for <1% of all the benign tumors of the spine. These are benign epithelial-lined cysts filled with keratin. Read More

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http://dx.doi.org/10.4103/jnrp.jnrp_304_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454963PMC

Congenital biotinidase deficiency - MRI findings in two cases.

Indian J Radiol Imaging 2019 Jan-Mar;29(1):99-103

Consultant Radiologist, Vikas Diagnostics, Kanpur, Uttar Pradesh, India.

Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature. Read More

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http://www.ijri.org/text.asp?2019/29/1/99/255223
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http://dx.doi.org/10.4103/ijri.IJRI_159_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467045PMC
April 2019
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Oesophageal atresia.

Nat Rev Dis Primers 2019 Apr 18;5(1):26. Epub 2019 Apr 18.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Gastroenterology and Nutrition, Amsterdam, The Netherlands.

Oesophageal atresia (EA) is a congenital abnormality of the oesophagus that is caused by incomplete embryonic compartmentalization of the foregut. EA commonly occurs with a tracheo-oesophageal fistula (TEF). Associated birth defects or anomalies, such as VACTERL association, trisomy 18 or 21 and CHARGE syndrome, occur in the majority of patients born with EA. Read More

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http://www.nature.com/articles/s41572-019-0077-0
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http://dx.doi.org/10.1038/s41572-019-0077-0DOI Listing
April 2019
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Influenza a virus-triggered autophagy decreases the pluripotency of human-induced pluripotent stem cells.

Cell Death Dis 2019 Apr 18;10(5):337. Epub 2019 Apr 18.

Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, MB, Canada.

Maternal influenza infection during pregnancy was reported multiple times as the possible cause of many defects and congenital anomalies. Apart from several cases of influenza-related miscarriage during various trimesters of pregnancy, some epidemiological data suggest a link between maternal influenza infection and genetic abnormalities in offspring. However, there are no reports yet describing how maternal influenza alters cellular pathways at early stages of development to result in congenital defects in the fetus. Read More

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http://www.nature.com/articles/s41419-019-1567-4
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http://dx.doi.org/10.1038/s41419-019-1567-4DOI Listing
April 2019
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Catheter Ablation for Atrial Tachycardia in Adults With Congenital Heart Disease: Electrophysiological Predictors of Acute Procedural Success and Post-Procedure Atrial Tachycardia Recurrence.

JACC Clin Electrophysiol 2019 Apr 30;5(4):438-447. Epub 2019 Jan 30.

Cardiac Electrophysiology Unit, Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York, New York. Electronic address:

Objectives: This study sought to determine the electrophysiological predictors of acute procedural success and of post-ablation recurrence of atrial tachyarrhythmias (ATs) in our adult congenital heart disease (ACHD) population undergoing catheter ablation for treatment of AT.

Background: Catheter ablation is frequently performed to treat persistent AT in ACHD. The predictors of post-ablation AT recurrence have not been well studied in the ACHD population. Read More

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http://dx.doi.org/10.1016/j.jacep.2018.10.011DOI Listing

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Ital J Pediatr 2019 Apr 18;45(1):49. Epub 2019 Apr 18.

Respiratory Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as responsible for CCHS. Most of patients with CCHS are heterozygous for polyalanine expansion mutations (PARMs) in exon 3, but 10% of patients with classic CCHS are heterozygous for non-polyalanine expansion mutations (NPARMs) of the PHOX2B gene. Read More

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http://dx.doi.org/10.1186/s13052-019-0636-8DOI Listing

Prevalence, types, and malformations in congenital anomalies of the kidney and urinary tract in newborns: a retrospective hospital-based study.

Ital J Pediatr 2019 Apr 18;45(1):50. Epub 2019 Apr 18.

Department of Women's Health, Women's Hospital, Zhejiang University School of Medicine, No.1 Xueshi Road, Hangzhou, Zhejiang Province, 310006, People's Republic of China.

Background: Congenital anomalies of the kidney and urinary tract (CAKUTs) are some of the most common birth defects affecting newborns. CAKUTs often have poor birth outcomes owing to the limited experience of physicians in developing countries regarding antenatal and postnatal diagnosis. We aimed to estimate the epidemiology of CAKUTs using data from a hospital-based registry in Zhejiang Province, China. Read More

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http://dx.doi.org/10.1186/s13052-019-0635-9DOI Listing

Sero-epidemiological status and risk factors of toxoplasmosis in pregnant women in Northern Vietnam.

BMC Infect Dis 2019 Apr 18;19(1):329. Epub 2019 Apr 18.

Department of Virology, Parasitology and Immunology, Faculty of Veterinary Medicine, Ghent University, Salisburylaan 133, 9820, Merelbeke, Belgium.

Background: In Vietnam, few studies have determined the epidemiological status of toxoplasmosis in pregnant women and no routine prenatal screening is in place. This study was conducted to evaluate the seroprevalence of this zoonotic parasitic infection in pregnant women in Northern Vietnam and to assess the association with awareness, risk factors and congenital toxoplasmosis.

Methods: Approximately 800 pregnant women were included in the study from two hospitals, one in Hanoi and one in Thai Binh province, which is known to have a dense cat population. Read More

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https://bmcinfectdis.biomedcentral.com/articles/10.1186/s128
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http://dx.doi.org/10.1186/s12879-019-3885-7DOI Listing
April 2019
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What are the noncardiac prognostic factors affecting mortality in neonates with aortopulmonary shunt.

J Matern Fetal Neonatal Med 2019 Apr 18:1-151. Epub 2019 Apr 18.

a Çukurova Üniversitesi Neonatology Department , Adana , Turkey.

Background/aim: Systemic to Pulmonary Shunts (SPS) have proven to be highly effective for the palliation of neonates with cyanotic congenital heart disease. Mortality after SPS surgery in neonates has multifactorial basis. We aimed to investigate the clinical results of the SPS in relation to the underlying cardiac disease and to identify the risk factors contributing to an adverse outcome Material-Method: All neonates who underwent first shunt insertion for cyanotic congenital heart disease during the study period from 1 January 2014 to 31 December 2017 were included. Read More

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http://dx.doi.org/10.1080/14767058.2019.1609928DOI Listing

Perceptions of ability among adults with upper limb absence: impacts of learning, identity, and community.

Disabil Rehabil 2019 Apr 18:1-10. Epub 2019 Apr 18.

c Department of Mechanical Engineering , University of Washington , Seattle , WA , USA.

Aims: The purpose of this research was to examine the lived experiences of adults with upper limb absence, specifically the interplay of device use, ability, and quality of life through semi-structured interviews. We sought to draw insight from these experiences to improve the practice and perceptions of adults with upper limb absence, prosthetists, and technology designers.

Methods: Semi-structured interviews were conducted and interpreted with phenomenological analysis for fourteen individuals with acquired or congenital limb absence. Read More

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https://www.tandfonline.com/doi/full/10.1080/09638288.2019.1
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http://dx.doi.org/10.1080/09638288.2019.1592243DOI Listing
April 2019
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Successful Outcome of a Pregnancy Complicated by a Voluminous Placental Chorangioma: Case report with Review of the Literature.

Oman Med J 2014 Jul;29(4):e076

Department of Pathology, Sultan Qaboos University Hospital, Muscat, Oman.

Placental chorangioma is a rare, benign, placental neoplasm associated with a myriad foetomaternal and neonatal complications. Voluminous chorangiomas have frequent complications and adverse outcomes. The successful outcome of a pregnancy complicated by a voluminous chorangioma is reported herein, with the literature review. Read More

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http://dx.doi.org/10.5001/omj.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451759PMC

[Melanosis of adipose tissue in a 17-month-old German Fleckvieh bull (Bos taurus)].

Tierarztl Prax Ausg G Grosstiere Nutztiere 2019 Apr 18;47(2):121-124. Epub 2019 Apr 18.

Fleischygieneamt.

At meat inspection of a 17-month-old bull (German Fleckvieh), patchy dark discoloration of various organs and tissue sites was noted that was most prominent in perirenal adipose tissue. Microscopic analysis revealed melanosis, that is a congenital melanocytic dystopia, as the underlying cause. To the best of our knowledge, this is the first case of melanosis detected in adipose tissue in cattle. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0866-6421
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http://dx.doi.org/10.1055/a-0866-6421DOI Listing
April 2019
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Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients.

Endocr Connect 2019 May;8(5):506-509

Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland.

In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain miRNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related genes (MIR7-3, MIR141, MIR429 and MIR200A-C) in 24 cHH patients with Sanger sequencing. A heterozygous variant in MIR200A (rs202051309; general population frequency of 0. Read More

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https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-008
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http://dx.doi.org/10.1530/EC-19-0080DOI Listing
May 2019
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Multiple distinct O-Mannosylation pathways in eukaryotes.

Curr Opin Struct Biol 2019 Apr 15;56:171-178. Epub 2019 Apr 15.

Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark. Electronic address:

Protein O-mannosylation (O-Man), originally discovered in yeast five decades ago, is an important post-translational modification (PTM) conserved from bacteria to humans, but not found in plants or nematodes. Until recently, the homologous family of ER-located protein O-mannosyl transferases (PMT1-7 in yeast; POMT1/POMT2 in humans), were the only known enzymes involved in directing O-Man biosynthesis in eukaryotes. However, recent studies demonstrate the existence of multiple distinct O-Man glycosylation pathways indicating that the genetic and biosynthetic regulation of O-Man in eukaryotes is more complex than previously envisioned. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0959440X183017
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http://dx.doi.org/10.1016/j.sbi.2019.03.003DOI Listing
April 2019
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Post-traumatic stress following military deployment: Genetic associations and cross-disorder genetic correlations.

J Affect Disord 2019 Apr 9;252:350-357. Epub 2019 Apr 9.

Research and Knowledge Center, The Danish Veteran Center, Garnisonen 1, 4100 Ringsted, Denmark.

Background: Post-traumatic stress disorder (PTSD) is a complex psychiatric disorder that occurs with relatively high frequency after deployment to warzones (∼10%). While twin studies have estimated the heritability to be up to 40%, thus indicating a considerable genetic component in the etiology, the biological mechanisms underlying risk and development of PTSD remain unknown.

Methods: Here, we conduct a genome-wide association study (GWAS; N = 2,481) to identify genome regions that associate with PTSD in a highly homogenous, trauma-exposed sample of Danish soldiers deployed to war and conflict zones. Read More

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http://dx.doi.org/10.1016/j.jad.2019.04.070DOI Listing

Ductal stenting to retrain the involuted left ventricle in d-transposition of the great arteries.

Ann Thorac Surg 2019 Apr 15. Epub 2019 Apr 15.

Paediatric & Congenital Heart Centre, Institut Jantung Negara (National Heart Institute), Kuala Lumpur, Malaysia.

Background: Ductal stenting is performed to retrain involuted left ventricles (LV) in patients with d-transposition of the great arteries and intact ventricular septum (TGA-IVS). However, its efficacy is largely unknown. This study aimed to determine the safety and efficacy of ductal stenting in retraining of involuted LV in patients with TGA-IVS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00034975193055
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http://dx.doi.org/10.1016/j.athoracsur.2019.03.045DOI Listing
April 2019
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The possible role of cross-reactive dengue virus antibodies in Zika virus pathogenesis.

PLoS Pathog 2019 Apr 18;15(4):e1007640. Epub 2019 Apr 18.

Department of Viroscience, Erasmus Medical Center, Rotterdam, the Netherlands.

Zika virus (ZIKV) has been known for decades to circulate in Africa and Asia. However, major complications of a ZIKV infection have recently become apparent for reasons that are still not fully elucidated. One of the hypotheses for the seemingly increased pathogenicity of ZIKV is that cross-reactive dengue antibodies can enhance a ZIKV infection through the principle of antibody-dependent enhancement (ADE). Read More

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http://dx.plos.org/10.1371/journal.ppat.1007640
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http://dx.doi.org/10.1371/journal.ppat.1007640DOI Listing
April 2019
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Complications Following Orthognathic Surgery for Patients With Cleft Lip/Palate.

J Craniofac Surg 2019 Apr 12. Epub 2019 Apr 12.

Department of Oral and Maxillofacial Surgery, School of Dentistry, Pusan National University, Yangsan, South Korea.

Introduction: Cleft lip/palate is a facial anomaly caused by an abnormal developmental process. It is also the most common congenital anomaly. Orthognathic surgery is required in 25% of patients with cleft lip and palate for the correction of dentofacial deformity. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005536DOI Listing

Presentation, Management, and Outcome of Lingual Thyroglossal Duct Cyst in Pediatric and Adult Populations.

J Craniofac Surg 2019 Apr 12. Epub 2019 Apr 12.

Department of Oral and Maxillofacial Surgery, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, China.

Lingual thyroglossal duct cysts (LTDCs) are rare congenital anomalies of the neck. The authors described the presentation, management, and outcome of LTDC in pediatric and adult cases through a retrospective observational analysis between 2008 and 2018. Data included patients' demographics, main complaint, preoperative investigations, surgical management, and recurrences. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005522DOI Listing
April 2019
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Acute Rupture of Achilles Tendon in an Adolescent with a History of Ponseti Casting and Achilles Tenotomy: A Case Report.

JBJS Case Connect 2019 Apr 16. Epub 2019 Apr 16.

MetroHealth Medical Center, Cleveland, Ohio.

Case: We present the case of a 15-year-old girl who has a history of Ponseti casting followed by Achilles tenotomies for congenital clubfeet as an infant and subsequently suffered an acute traumatic midsubstance Achilles tendon rupture on the left and midsubstance Achilles tendinosis on the right.

Conclusions: Traumatic pediatric Achilles ruptures are rare. There are no prior reported cases in patients with a history of Achilles tenotomy, despite it being a described potential complication. Read More

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http://dx.doi.org/10.2106/JBJS.CC.18.00197DOI Listing
April 2019
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Children With Congenital Unilateral Sensorineural Hearing Loss: Effects of Late Hearing Aid Amplification-A Pilot Study.

Ear Hear 2019 Apr 16. Epub 2019 Apr 16.

Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.

Objectives: Although children with unilateral hearing loss (uHL) have high risk of experiencing academic difficulties, speech-language delays, poor sound localization, and speech recognition in noise, studies on hearing aid (HA) outcomes are few. Consequently, it is unknown when and how amplification is optimally provided. The aim was to study whether children with mild-to-moderate congenital unilateral sensorineural hearing loss (uSNHL) benefit from HAs. Read More

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http://dx.doi.org/10.1097/AUD.0000000000000730DOI Listing

Differences in Cost of Care by Palliation Strategy for Infants With Ductal-Dependent Pulmonary Blood Flow.

Circ Cardiovasc Interv 2019 Apr;12(4):e007232

The Cardiac Center at the Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine (M.L.O., D.D., H.M.G., C.E.M., A.C.G.).

Background: In infants with ductal-dependent pulmonary blood flow, initial palliation with patent ductus arteriosus (PDA) stent or modified Blalock-Taussig (BT) shunt have comparable mortality but discrepant length of stay, procedural complication rates and reintervention burdens, which may influence cost. The relative economic impact of these palliation strategies is unknown.

Methods And Results: Retrospective study of infants with ductal-dependent pulmonary blood flow palliated with PDA stent (n=104) or BT shunt (n=251) from 2008 to 2015 at 4 centers of the Congenital Catheterization Research Collaborative. Read More

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http://dx.doi.org/10.1161/CIRCINTERVENTIONS.118.007232DOI Listing

Causes of fetal third-degree atrioventricular block and use of hydroxychloroquine in pregnant women with Ro/La antibodies.

Clin Rheumatol 2019 Apr 17. Epub 2019 Apr 17.

Sección Reumatología, Servicio de Clínica Médica, Hospital Italiano de Buenos Aires, Peron 4190 (C1199ABB), Buenos Aires, Argentina.

Introduction/objectives: Complete congenital atrioventricular block (AVB) may be due to cardiac malformations or the presence of maternal antibodies (autoimmune AVB). Our objective was to estimate the prevalence of autoimmune AVB among all AVB in newborns treated at our hospital. Secondly, we estimated the prevalence of AVB among mothers with anti-Ro/La antibodies and examined the relationship of those fetal AVB with mother's use of hydroxychloroquine during pregnancy. Read More

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http://dx.doi.org/10.1007/s10067-019-04556-8DOI Listing
April 2019
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Magnetic Resonance Imaging in 14 Patients with Congenital Oculomotor Nerve Palsy.

Clin Neuroradiol 2019 Apr 17. Epub 2019 Apr 17.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea (Republic of).

Purpose: To elucidate the imaging findings of congenital oculomotor nerve palsy by evaluating the oculomotor nerve and extraocular muscles on magnetic resonance (MR) imaging in a relatively large series of 14 patients with congenital oculomotor nerve palsy.

Methods: Ophthalmologic examination of 14 consecutive patients diagnosed with congenital oculomotor nerve palsy, and MR imaging of the orbit and oculomotor nerves were performed.

Results: Of the 14 patients with congenital oculomotor nerve palsy, 13 patients (93%) were unilateral and 12 patients (86%) had incomplete palsy. Read More

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http://link.springer.com/10.1007/s00062-019-00781-5
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http://dx.doi.org/10.1007/s00062-019-00781-5DOI Listing
April 2019
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Diet, weight gain, and head growth in hospitalized US very preterm infants: a 10-year observational study.

Am J Clin Nutr 2019 Apr 17. Epub 2019 Apr 17.

Vermont Oxford Network, Burlington, VT.

Background: The benefits of human milk for hospitalized preterm infants are well documented, but the extent to which current human milk diets adequately support growth is uncertain.

Objectives: 1) To quantify differences in weight gain and head growth between very preterm infants fed human milk compared with infant formula; and 2) to describe trends in the magnitude of these differences over time.

Methods: We studied infants from 777 US NICUs in the Vermont Oxford Network database. Read More

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http://dx.doi.org/10.1093/ajcn/nqz008DOI Listing

Impact of dedicated perioperative care in neonatal cardiac surgery.

J Thorac Dis 2019 Mar;11(Suppl 3):S223-S225

Pediatric and Congenital Cardiology Unit, Bordeaux University Hospital, Bordeaux, France.

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http://dx.doi.org/10.21037/jtd.2019.02.09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424789PMC

Factors associated with health-related quality of life among adults with tetralogy of Fallot.

Open Heart 2019 27;6(1):e000932. Epub 2019 Feb 27.

Heart Centre and Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.

Background: Due to improved care, the numbers of patients with tetralogy of Fallot (ToF) are increasing. However, long-term morbidity and need for reinterventions are concerns and also address issues of quality of life (QoL).

Methods: Patients with ToF and valid EuroQol-5 dimensions questionnaire (EQ-5D) were identified in the national Swedish register on congenital heart disease. Read More

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http://openheart.bmj.com/lookup/doi/10.1136/openhrt-2018-000
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http://dx.doi.org/10.1136/openhrt-2018-000932DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443137PMC
February 2019
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Development of heart failure in young patients with congenital heart disease: a nation-wide cohort study.

Open Heart 2019 25;6(1):e000858. Epub 2019 Mar 25.

Department of Molecular and Clinical Medicine, Goteborgs universitet Sahlgrenska Akademin, Goteborg, Sweden.

Objective: Heart failure (HF) is a common cause of hospitalisation and death in adults with congenital heart disease (CHD). However, the risk of HF in young patients with CHD has not been determined.

Methods: By linkage of national patient registers in Sweden, we identified 21 982 patients with CHD born between 1970 and 1993, and compared these with 10 controls per case. Read More

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http://dx.doi.org/10.1136/openhrt-2018-000858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443131PMC

Cutaneous lymphangioma circumscriptum: The relevance of clinical, dermoscopic, radiological, and histological assessments.

Clin Case Rep 2019 Apr 17;7(4):612-615. Epub 2019 Feb 17.

Dermatology Service of Clinics Hospital of Uberlandia (HCU/UFU) Federal University of Uberlandia (UFU) Uberlândia Brazil.

Cutaneous lymphangioma circumscriptum (CLC) is a rare congenital malformation of the superficial cutaneous lymphatic ducts. Case report: A 7-year-old boy presented plaque with grouped vesicles resembling a "frog spawn" on the upper left thigh, since 4 months old. The clinical, dermatoscopic and histopathological correlation is of great importance. Read More

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http://dx.doi.org/10.1002/ccr3.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452527PMC

A patient with Phelan-McDermid syndrome and dilation of the great vessels.

Clin Case Rep 2019 Apr 17;7(4):607-611. Epub 2019 Feb 17.

Pediatric Cardiology Johns Hopkins All Children's Hospital Saint Petersburg Florida.

We present a patient with Phelan-McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge. Read More

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http://dx.doi.org/10.1002/ccr3.2003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452459PMC
April 2019
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Huge thyroglossal duct cyst at the supra-sternal notch.

J Surg Case Rep 2019 Apr 12;2019(4):rjz112. Epub 2019 Apr 12.

Department of Surgery, St. Paul's Hospital Millennium Medical College (SPHMMC), Addis Ababa, Ethiopia.

Thyroglossal duct cysts (TGDC) are the most common congenital cysts in the neck. TGDC typically present as a midline swelling anywhere between the foramen cecum and the isthmus of the thyroid gland. Majority occurs just below the hyoid bone and those descending below the thyrohyoid membrane are rare. Read More

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http://dx.doi.org/10.1093/jscr/rjz112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460897PMC

Congenital pseudarthrosis of the tibia: biological and biomechanical considerations to achieve union and prevent refracture.

Authors:
D Paley

J Child Orthop 2019 Apr;13(2):120-133

Paley Orthopedic and Spine Institute, West Palm Beach, Florida, United States.

Congenital pseudarthrosis of the tibia (CPT) is likely to be a primary periosteal disease and secondary bone disease. The primary goal of treatment is to obtain union, correct the diaphyseal deformity, correct any proximal fibular migration and prevent refracture. The pathobiology demonstrates increased osteoclasis by the surrounding fibrous hamartoma and reduced osteogenesis and bone morphogenic protein production by the bone. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/1863-2548.13.
Publisher Site
http://dx.doi.org/10.1302/1863-2548.13.180147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442511PMC
April 2019
1 Read