333,007 results match your criteria Congenital Coxa Vara


Novel metabolic disorders in skeletal muscle of Lipodystrophic Bscl2/Seipin deficient mice.

Mol Cell Endocrinol 2018 Dec 4. Epub 2018 Dec 4.

Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, 30912, USA. Electronic address:

Bscl2 mice recapitulate many of the major metabolic manifestations in Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) individuals, including lipodystrophy, hepatosteatosis, muscular hypertrophy, and insulin resistance. Metabolic defects in Bscl2 mice with regard to glucose and lipid metabolism in skeletal muscle have never been investigated. Here, we identified Bscl2 mice displayed reduced intramyocellular triglyceride (IMTG) content but increased glycogen storage predominantly in oxidative type I soleus muscle (SM). Read More

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December 2018
3 Reads

Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration.

Neuron 2018 Dec;100(5):1241-1251.e7

Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland; Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland; University of Basel, Basel, Switzerland. Electronic address:

Large numbers of brain regions are active during behaviors. A high-resolution, brain-wide activity map could identify brain regions involved in specific behaviors. We have developed functional ultrasound imaging to record whole-brain activity in behaving mice at a resolution of ∼100 μm. Read More

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December 2018
1 Read

Regional Gene Expression Profile Comparison Reveals the Unique Transcriptome of the Optic Fissure.

Invest Ophthalmol Vis Sci 2018 Dec;59(15):5773-5784

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Purpose: The optic fissure (OF) is a transient opening in the ventral optic cup (OC) that acts as a passage for blood vessels and retinal ganglion cell axons during early eye development. Failure to close the OF is the developmental basis for uveal coloboma, a congenital blinding eye disease that significantly contributes to childhood blindness. Genes specifically expressed in the OF region may play important roles in OF development and function. Read More

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December 2018

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.

PLoS Genet 2018 Dec 6;14(12):e1007850. Epub 2018 Dec 6.

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.

Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs and Boston Terriers share many morphological and disease-predisposition traits, including brachycephalic skull morphology, widely set eyes and short stature. Read More

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December 2018
5 Reads

Covered perforation of Meckel's diverticulum ulcer to transverse colon: highlighting the urgent intervention and the avoidance of a dramatic evolution (case report and literature review).

Folia Med Cracov 2018 ;58(3):83-87

Department of Internal Medicine, General Hospital of Veria, Veria, Greece.

Meckel's diverticulum represents a remnant of the proximal end of the omphalomesenteric duct, which constitutes a connection between the middle intestine and the vitelline vesicle. It is the most common congenital anomaly of the gastrointestinal tract and is found in approximately 0.3-2% of the general population. Read More

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January 2018

Global Health Journal Club: The Use of Rapid Diagnostic Test (RDT) in the Diagnosis of Congenital Malaria.

J Trop Pediatr 2018 Dec 5. Epub 2018 Dec 5.

Yale University, Rwanda Human Resources for Health (HRH) Program, Kigali, Rwanda.

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December 2018

CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma.

J Glaucoma 2018 Dec 5. Epub 2018 Dec 5.

Hospital das Clínicas, Federal University of Pernambuco (HC - UFPE), Recife, Pernambuco, Brazil.

Purpose: To identify variants in the CYP1B1 gene in northeastern Brazilian patients with PCG and possible genotype-phenotype correlations.

Materials And Methods: This is a cross-sectional observational study of 17 non-related patients with PCG, performed at the Altino Ventura Foundation, Recife, Brazil, between December 2017 and February 2018. All patients underwent an examination, including gathering information from their medical records, slit lamp examination, fundoscopy, tonography, and measuring corneal diameter and thickness. Read More

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December 2018

Impaired Hypoxic Pulmonary Vasoconstriction in a Mouse Model of Leigh Syndrome.

Am J Physiol Lung Cell Mol Physiol 2018 Dec 6. Epub 2018 Dec 6.

Department of Anesthesia, Massachusetts General Hospital, United States.

Hypoxic pulmonary vasoconstriction (HPV) is a physiological vasomotor response that maintains systemic oxygenation by matching perfusion to ventilation during alveolar hypoxia. Although mitochondria appear to play an essential role in HPV, the impact of mitochondrial dysfunction on HPV remains incompletely defined. Mice lacking the mitochondrial complex I (CI) subunit Ndufs4 (Ndufs4-/-) develop a fatal progressive encephalopathy and serve as a model for Leigh syndrome, the most common mitochondrial disease in children. Read More

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December 2018
3 Reads

Prognostic value of multiple repeated biomarkers in pulmonary arterial hypertension associated with congenital heart disease.

Eur J Heart Fail 2018 Dec 6. Epub 2018 Dec 6.

Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.

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December 2018
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A minimally-invasive hybrid approach for cardiac resynchronization of the systemic right ventricle.

Pacing Clin Electrophysiol 2018 Dec 6. Epub 2018 Dec 6.

University of California Los Angeles, Department of Cardiothoracic Surgery, UCLA Medical Center, Los Angeles, CA.

Background: Patients with systemic right ventricles (RV) often develop progressive heart failure and may benefit from cardiac resynchronization therapy (CRT), however the optimal strategy for CRT has not been defined.

Methods: A retrospective review of all patients with systemic RV failure undergoing a hybrid transcatheter-surgical approach was performed. Procedural technique and outcomes are reported. Read More

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December 2018

Safety of Sports for Young Patients With Implantable Cardioverter-Defibrillators.

Circ Arrhythm Electrophysiol 2018 Nov;11(11):e006305

Yale University School of Medicine, New Haven, CT (J.D., C.B., L.S., F.L., R.J.L.).

Background: Despite safety concerns, many young patients with implantable cardioverter-defibrillators (ICDs) participate in sports. We undertook a prospective, multinational registry to determine the incidence of serious adverse events because of sports participation. The primary end points were death or resuscitated arrest during sports or injury during sports because of arrhythmia or shock. Read More

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November 2018
1 Read

Modified Hinderer's Technique for Serious Proximal Hypospadias with Ventral Curvature: Outcomes and Our Experience.

Urol J 2018 Dec 6. Epub 2018 Dec 6.

Department of Pediatric Surgery, Selcuk University Medical Faculty, Konya,Turkey.

Purpose: Hypospadias is a congenital anomaly that includes defi-cient ventral structure of the penis. Proximal hypospadias cases make up 20% of all hypospadias cases. The choice of operative technique for hypospadias repair depends on the severity, and it is influenced by the surgeon's experience and perception of where priorities should lie. Read More

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December 2018
3 Reads

A modification with threading cannula needle-assisted 4-point suspension fixation for retroperitoneal laparoscopic pyeloplasty in children with ureteropelvic junction obstruction: a cohort study in single center.

Int Urol Nephrol 2018 Dec 5. Epub 2018 Dec 5.

Department of Urology, The Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou, 510630, Guangdong, China.

Purpose: To evaluate the effect and safety of modifying a threading cannula needle-assisted suspension fixation in retroperitoneal laparoscopic dismembered pyeloplasty (LDP) for children with congenital ureteropelvic junction obstruction (UPJO).

Methods: Between December 2012 and December 2017, 45 children (< 14 years of age) with congenital UPJO were divided into two groups. In Group A, children underwent conventional "no-suspension fixation" LDP; and in Group B, "4-point suspension fixation" LDP was performed to lower difficulties and shorten operative time. Read More

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December 2018

[Combined XEN and Baerveldt implant-principles and management of complications].

Ophthalmologe 2018 Dec 5. Epub 2018 Dec 5.

Augenklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55116, Mainz, Deutschland.

The treatment of congenital glaucoma requires special expertise and often novel surgical approaches. The combined use of a XEN and a Baerveldt implant is an alternative to conventional tube implants and may be less harmful for long-term corneal endothelial damage. If this technique does not provide sufficient long-term control of intraorbital pressure (IOP), a direct implantation of the Baerveldt tube can be easily performed in a second intervention. Read More

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December 2018

Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.

J Endocr Soc 2018 Dec 15;2(12):1345-1356. Epub 2018 Oct 15.

University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Context: Recombinant human FSH (r-hFSH), given to prepubertal boys with hypogonadotropic hypogonadism (HH), may induce Sertoli cell proliferation and thereby increase sperm-producing capacity later in life.

Objective: To evaluate the effects of r-hFSH, human chorionic gonadotropin (hCG), and testosterone (T) in such patients.

Design And Setting: Retrospective review in three tertiary centers in Finland between 2006 and 2016. Read More

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December 2018

Spontaneous Acute Subdural Hematoma Associated with Arachnoid Cyst and Intra-cystic Hemorrhage.

Cureus 2018 Sep 28;10(9):e3383. Epub 2018 Sep 28.

Neurosurgery, Advocate Christ Medical Center, Oak Lawn, USA.

Arachnoid cysts (ACs) are congenital, extra-axial lesions containing fluid similar to the composition of cerebrospinal fluid. Usually found incidentally, these lesions are observed with serial imaging to document their growth patterns and stability, and are then followed conservatively until clinical symptoms develop. Surgical options for symptomatic arachnoid cysts include cyst aspiration, cyst evacuation with fenestration into the subarachnoid space, and shunt procedures including cysto-peritoneal and cysto-ventricular shunts. Read More

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September 2018

Multimodal imaging in a patient with Prader-Willi syndrome.

Int J Retina Vitreous 2018 30;4:45. Epub 2018 Nov 30.

Gavin Herbert Eye Institute, University of California Irvine, 850 Health Sciences Road, Irvine, CA 92697 USA.

Background: Prader-Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15. Ophthalmic manifestations of PWS include strabismus, amblyopia, nystagmus, hypopigmentation of the iris and choroid, diabetic retinopathy, cataract and congenital ectropion uvea. An overlap between PWS and oculocutaneous albinism (OCA) has long been recognized and attributed to deletion of OCA2 gene located in PWS critical region (PWCR). Read More

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November 2018
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Porous diaphragm syndrome with recurrent thymoma.

Respirol Case Rep 2019 Feb 28;7(2):e00391. Epub 2018 Nov 28.

Department of Medical Oncology Izumi City General Hospital Izumi Japan.

Porous diaphragm syndrome describes a defect in the diaphragm in which substances pass from the peritoneal cavity to the pleural space. Defects may be congenital or acquired. Acquired defects are caused by the thinning and eventual splitting of collagen fibres in the tendinous part of the diaphragm. Read More

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February 2019

Transient Anarthria and Quadriplegia in a Patient with Basilar Artery Hypoplasia and Coincidental Intracranial Lipoma: A Case Report.

Case Rep Neurol 2018 Sep-Dec;10(3):322-327. Epub 2018 Nov 14.

Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea.

Cerebral ischemia may be rarely associated with a hypoplastic vertebrobasilar system. Intracranial lipoma is also a very rare congenital malformation. We report the case of a 52-year-old woman with vertebrobasilar transient ischemic attack associated with basilar artery hypoplasia and coincidental intracranial lipoma. Read More

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November 2018
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Quality of life following surgery for congenital glaucoma: findings of the LVPEI congenital glaucoma registry.

Eye (Lond) 2018 Dec 5. Epub 2018 Dec 5.

Jasti V Ramanamma Children's Eye Care Centre, L V Prasad Eye Institute, Hyderabad, India.

Purpose: To evaluate the health-related quality of life (HRQoL) of children operated for primary congenital glaucoma (PCG) using the Kidscreen-27 questionnaire.

Methods: A total of 121 children (mean age, 11.8 years; SD, 2. Read More

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December 2018

Depth perception in patients with congenital color vision deficiency.

Eye (Lond) 2018 Dec 5. Epub 2018 Dec 5.

Department of Ophthalmology, Ulucanlar Eye Training and Research Hospital, Ankara, Turkey.

Purpose: To assess the effect of type and severity of congenital color vision deficiency (CCVD) on depth perception.

Methods: Thirty-one male patients with a known diagnosis of CCVD were included in the study group and 31 age-matched healthy subjects in the control group. After standard ophthalmological examination including best corrected visual acuity (BCVA) testing with Snellen chart, slit-lamp examination, non-contact tonometry, and fundus examination, all patients underwent color perception testing with Hardy-Rand-Rittler (HRR) 4th edition pseudoisochromatic test plates and stereoacuity testing with Titmus stereo test plates. Read More

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December 2018

The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.

J Hum Genet 2018 Dec 5. Epub 2018 Dec 5.

Genomics Group, Fundación Investigación Hospital General Universitario de Valencia, Valencia, Spain.

Syndromic monogenic obesity is a rare and severe early-onset form of obesity. It is characterized by intellectual disability, congenital malformations, and/or dysmorphic facies. The diagnosis of patients is challenging due to the genetic heterogenicity of this condition. Read More

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December 2018
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Intra-amniotic Sildenafil Treatment Modulates Vascular Smooth Muscle Cell Phenotype in the Nitrofen Model of Congenital Diaphragmatic Hernia.

Sci Rep 2018 Dec 5;8(1):17668. Epub 2018 Dec 5.

Department of Pediatric General and Thoracic Surgery, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

The etiology of pulmonary vascular abnormalities in CDH is incompletely understood. Studies have demonstrated improvement in pulmonary vasculature with prenatal therapy in animal models. We hypothesize that prenatal sildenafil may attenuate defective pulmonary vascular development via modulation of vSMC phenotype from undifferentiated, proliferative phenotype to differentiated, contractile phenotype. Read More

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December 2018

Acute Pulmonary Edema in a Pregnant Patient with Undiagnosed Levo-Transposition of the Great Arteries.

Am J Case Rep 2018 Dec 6;19:1445-1448. Epub 2018 Dec 6.

Department of Anesthesiology and Perioperative Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA.

BACKGROUND Levo-transposition of the great arteries (L-TGA) is a rare form of congenital heart disease that may go unrecognized until adulthood. Parturient women with L-TGA have a high likelihood of developing acute pulmonary edema and cardiac dysrhythmias during the peri-partum period. CASE REPORT We present the case of a 32-year-old primigravida patient with previously unknown diagnosis of L-TGA, presenting with preeclampsia, whose peri-partum course was complicated by the development of acute pulmonary edema, complete heart block, and acute hypoxic respiratory failure. Read More

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December 2018

Intrahost dynamics of human cytomegalovirus variants acquired by seronegative glycoprotein B vaccinees.

J Virol 2018 Dec 5. Epub 2018 Dec 5.

Human Vaccine Institute, Duke University Medical Center, Durham, North Carolina, USA.

Human cytomegalovirus (HCMV) is the most common congenital infection worldwide, and a frequent cause of hearing loss and debilitating neurologic disease in newborn infants. Thus, a vaccine to prevent HCMV-associated congenital disease is a public health priority. One potential strategy is vaccination of women of child-bearing age to prevent maternal HCMV acquisition during pregnancy. Read More

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December 2018

Murine -linked hydrocephalus is caused by hyperpermeability of the choroid plexus.

EMBO Mol Med 2018 Dec 5. Epub 2018 Dec 5.

Cardeza Center for Vascular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA

Though congenital hydrocephalus is heritable, it has been linked only to eight genes, one of which is Humans and mice that carry a truncated version of MPDZ incur severe hydrocephalus resulting in acute morbidity and lethality. We show by magnetic resonance imaging that contrast medium penetrates into the brain ventricles of mice carrying a loss-of-function mutation, whereas none is detected in the ventricles of normal mice, implying that the permeability of the choroid plexus epithelial cell monolayer is abnormally high. Comparative proteomic analysis of the cerebrospinal fluid of normal and hydrocephalic mice revealed up to a 53-fold increase in protein concentration, suggesting that transcytosis through the choroid plexus epithelial cells of KO mice is substantially higher than in normal mice. Read More

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December 2018
2 Reads

Siglec-1 Macrophages and the Contribution of IFN to the Development of Autoimmune Congenital Heart Block.

J Immunol 2018 Dec 5. Epub 2018 Dec 5.

Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY 10016.

Given that diseases associated with anti-SSA/Ro autoantibodies, such as systemic lupus erythematosus and Sjögren syndrome, are linked with an upregulation of IFN and type I IFN-stimulated genes, including sialic acid-binding Ig-like lectin 1 (Siglec-1), a receptor on monocytes/macrophages, recent attention has focused on a potential role for IFN and IFN-stimulated genes in the pathogenesis of congenital heart block (CHB). Accordingly, three approaches were leveraged to address the association of IFN, IFN-stimulated genes, and the phenotype of macrophages in affected fetal cardiac tissue: 1) cultured healthy human macrophages transfected with hY3, an anti-SSA/Ro-associated ssRNA, 2) RNA isolated from freshly sorted human leukocytes/macrophages after Langendorff perfusion of three fetal hearts dying with CHB and three healthy gestational age-matched hearts, and 3) autopsy tissue from three additional human CHB hearts and one healthy heart. TLR ligation of macrophages with hY3 led to the upregulation of a panel of IFN transcripts, including SIGLEC1, a result corroborated using quantitative PCR. Read More

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December 2018

Not all neonates with oesophageal atresia and tracheoesophageal fistula are a surgical emergency.

J Pediatr Surg 2018 Nov 7. Epub 2018 Nov 7.

Department of Paediatric Surgery, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK. Electronic address:

Aim: Infants with oesophageal atresia and distal tracheoesophageal fistula (OA-TOF) occasionally require endotracheal intubation prior to definitive surgery. This creates the risk of preferential ventilation of the fistula leading to gastric distention and subsequent perforation. We aimed to reassess the risk of preoperative positive-pressure ventilation and update recommendations for emergency surgery in this cohort. Read More

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November 2018

Adult With Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.

J Clin Sleep Med 2018 Nov 29. Epub 2018 Nov 29.

Abstract: 20/27 polyalanine repeat mutation (PARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally associated with full-time ventilator dependence, Hirschsprung disease, and increased risk for cardiac asystole. We follow a 14-year-old boy with CCHS 20/27 PARM who is full-time ventilator dependent via tracheostomy and has Hirschsprung disease. His mother, age 52 years, has a history of prolonged recovery from anesthesia and an elevated serum bicarbonate level of 45 mEq/L discovered on routine blood chemistry. Read More

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November 2018

Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog.

Acta Vet Scand 2018 Dec 5;60(1):78. Epub 2018 Dec 5.

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3508 TD, Utrecht, The Netherlands.

Background: Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary arterial hypertension (PAH) in humans and can be classified in idiopathic, heritable, drug and radiation-induced, and associated with connective tissue disease or human immunodeficiency virus infection. Recently, biallelic mutations of the EIF2AK4 gene have been discovered as a cause for an autosomal recessive form of PVOD in humans. In dogs, PAH is poorly characterized and is generally considered to be idiopathic or secondary to (for example) congenital left-to right cardiovascular shunts or heartworm disease. Read More

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December 2018
1 Read

Real-time assessment of right and left ventricular volumes and function in children using high spatiotemporal resolution spiral bSSFP with compressed sensing.

J Cardiovasc Magn Reson 2018 Dec 6;20(1):79. Epub 2018 Dec 6.

UCL Centre for Cardiovascular Imaging, Institute of Cardiovascular Science, University College London, 30 Guildford Street, London, WC1N 1EH, UK.

Background: Real-time cardiovascular magnetic resonance (CMR) assessment of ventricular volumes and function enables data acquisition during free-breathing. The requirement for high spatiotemporal resolution in children necessitates the use of highly accelerated imaging techniques.

Methods: A novel real-time balanced steady state free precession (bSSFP) spiral sequence reconstructed using Compressed Sensing (CS) was prospectively validated against the breath-hold clinical standard for assessment of ventricular volumes in 60 children with congenital heart disease. Read More

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December 2018

Recurrent Implantation Failure-update overview on etiology, diagnosis, treatment and future directions.

Reprod Biol Endocrinol 2018 Dec 5;16(1):121. Epub 2018 Dec 5.

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Ramat Gan, Israel.

Recurrent implantation failure (RIF) refers to cases in which women have had three failed in vitro fertilization (IVF) attempts with good quality embryos. The definition should also take advanced maternal age and embryo stage into consideration. The failure of embryo implantation can be a consequence of uterine, male, or embryo factors, or the specific type of IVF protocol. Read More

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December 2018

The incidentally diagnosed adult congenital heart disease during routine medical health checkups in 27,897 Koreans at a single center over seven years.

BMC Cardiovasc Disord 2018 Dec 5;18(1):223. Epub 2018 Dec 5.

Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, 158, Paryong-ro, Masanhoewon-gu, Changwon, Gyeongsangnam-do, 51353, Republic of Korea.

Background: The rate of incidentally diagnosed congenital heart disease (CHD) in adulthood has not been reported. The aim of this study was to investigate the detection rate of CHD in adults by routine, general health checkups.

Methods: Data was acquired from 222,401 patients older than 19 years who participated in general health checkups from January 2010 to December 2016. Read More

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December 2018

Fibroinflammatory Liver Injuries as Preneoplastic Condition in Cholangiopathies.

Int J Mol Sci 2018 Dec 4;19(12). Epub 2018 Dec 4.

School of Medicine and Surgery, University of Milan-Bicocca, Via Cadore 48, 20900 Monza, Italy.

The cholangipathies are a class of liver diseases that specifically affects the biliary tree. These pathologies may have different etiologies (genetic, autoimmune, viral, or toxic) but all of them are characterized by a stark inflammatory infiltrate, increasing overtime, accompanied by an excess of periportal fibrosis. The cellular types that mount the regenerative/reparative hepatic response to the damage belong to different lineages, including cholagiocytes, mesenchymal and inflammatory cells, which dynamically interact with each other, exchanging different signals acting in autocrine and paracrine fashion. Read More

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December 2018
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Evaluation of Continuous Lactate Monitoring Systems within a Heparinized In Vivo Porcine Model Intravenously and Subcutaneously.

Biosensors (Basel) 2018 Dec 4;8(4). Epub 2018 Dec 4.

Biocrede Inc., Plymouth, MI 48170, USA.

We present an animal model used to evaluate the in vivo performance of electrochemical amperometric continuous lactate sensors compared to blood gas instruments. Electrochemical lactate sensors were fabricated, placed into 5 Fr central venous catheters (CVCs), and paired with wireless potentiostat devices. Following in vivo evaluation and calibration, sensors were placed within the jugular and femoral veins of a porcine subject as a preliminary assessment of in vivo measurement accuracy. Read More

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December 2018

Appropriate Imaging Modality for the Etiologic Diagnosis of Congenital Single-Sided Deafness in Children.

J Clin Med 2018 Dec 4;7(12). Epub 2018 Dec 4.

Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, 300 Gumi-dong, Bundang-gu, Seongnam, Korea.

We aimed to compare the diagnostic yield between temporal bone computed tomography (TBCT) and internal auditory canal MRI (IAC MRI) for the etiologic diagnosis of children with congenital single-sided deafness (SSD) and the evaluation of cochlear implant (CI) candidacy. In the original cohort, 24 subjects with congenital SSD were enrolled and underwent both TBCT and IAC MRI. We recruited an additional 22 consecutive infants with congenital SSD (the supplementary cohort) and evaluated in particular the cochlear nerve (CN) integrity using IAC MRI. Read More

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December 2018
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Clinical Trials and Administration of Zika Virus Vaccine in Pregnant Women: Lessons (that Should Have Been) Learned from Excluding Immunization with the Ebola Vaccine during Pregnancy and Lactation.

Authors:
David A Schwartz

Vaccines (Basel) 2018 Dec 4;6(4). Epub 2018 Dec 4.

Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.

As evidenced from recent epidemics, both Ebola and Zika virus infection are potentially catastrophic when occurring in pregnant women. Ebola virus causes extremely high rates of mortality in both mothers and infants; Zika virus is a TORCH infection that produces a congenital malformation syndrome and pediatric neurodevelopmental abnormalities. Production of efficacious vaccines has been a public health priority for both infections. Read More

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December 2018

Ultrasound-guided quadratus lumborum plane block for congenital hip dislocation surgery: Dermatomes and osteotomes.

J Clin Anesth 2018 Nov 30;54:140. Epub 2018 Nov 30.

Anesthesiology Institute, Outcomes Research Department, Cleveland Clinic, Cleveland, OH, USA. Electronic address:

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November 2018

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

Clin Chim Acta 2018 Nov 30. Epub 2018 Nov 30.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China. Electronic address:

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. Although most patients present with isolated CH, some patients present with CH and extra-thyroidal congenital malformations (ECMs), for which less is known about the underlying genetics. The aim of this study was to investigate the genetic mechanisms in patients with CH and ECMs using chromosomal microarray (CMA) and whole exome sequencing (WES). Read More

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November 2018

Prenatal sonographic diagnosis of Harlequin ichthyosis.

J Clin Ultrasound 2018 Dec 3. Epub 2018 Dec 3.

Department of Obstetrics and Gynaecology, Centro Hospitalar São João, Porto, Portugal.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features. Read More

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December 2018

Contemporary management of prenatally diagnosed spina bifida aperta - an update.

Ginekol Pol 2018 ;89(11):637-641

1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland.

Spina bifida aperta is a relatively common congenital defect that occurs in the general population. Once the disorder has been diagnosed, a discussion, that can be emotionally-charged, ensues about whether to treat it prenatally or to only offer surgery postnatally. Given that there are good arguments for and against both options, it is of paramount importance to gain a good understanding of the major advantages and disadvantages of the various surgical approaches. Read More

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January 2018

Adult congenital heart disease at the Royal Brompton: A historical perspective and future directions discussed by Michael Gatzoulis.

Eur Heart J 2018 Dec;39(45):3990-3992

Professor of Cardiology, Congenital Heart Disease and Consultant Cardiologist, Adult Congenital Heart Centre and Centre for Pulmonary Hypertension, Royal Brompton Hospital, and The National Heart & Lung Institute, Imperial College, London, UK.

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December 2018

Ethical issues with early genitoplasty in children with disorders of sex development.

Curr Opin Endocrinol Diabetes Obes 2018 Nov 30. Epub 2018 Nov 30.

Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA.

Purpose Of Review: Genitoplasty in children with disorders of sex development (DSD) is an ethically complex issue. From a surgical perspective, genitoplasty in early childhood is preferred because it is felt to be associated with improved tissue healing, decreased risk of complications, and reduced psychological impact of genital surgery. However, advocacy groups and recent ethics literature have argued for deferring genitoplasty until a child reaches decisional maturity. Read More

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November 2018
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Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.

Eur J Gastroenterol Hepatol 2018 Nov 30. Epub 2018 Nov 30.

The Research Center for Medical Genomics, Key Laboratory of Cell Biology, Ministry of Public Health, Key Laboratory of Medical Cell Biology, Ministry of Education, College of Basic Medical Science, China Medical University.

Objective: Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. The aim of our study was to identify the disease-causing gene of a Chinese family with CHF.

Patients And Methods: Whole-exome sequencing was performed in the family with CHF and variants were confirmed by Sanger sequencing. Read More

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November 2018