354,196 results match your criteria Congenital Patterned Leukodermas


Early Prelingual Auditory Development of Infants and Toddlers With Unilateral Hearing Loss.

Otol Neurotol 2020 Jun;41(5):654-0

Hearing Center/Hearing & Speech Laboratory, Department of Otorhinolaryngology Head & Neck Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Objective: To assess the influence of congenital and permanent unilateral hearing loss (UHL) on early prelingual auditory development (EPLAD) of infants and toddlers.

Study Design: A cross-sectional and case-controlled design.

Setting: Tertiary referral center. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002584DOI Listing

Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease.

J Craniofac Surg 2020 Jun 19. Epub 2020 Jun 19.

The Malopolska Center for Burns and Plastic Surgery, The Ludwik Rydygier Hospital, Krakow, Poland.

Hemifacial microsomia (HFM) is the second most common congenital disability of the face, with a prevalence of 1 in 3000 to 5600 live births. Although etiology is still not fully understood, including both genetics and environmental factors, the latest reports indicate the prominence of premature loss of the neural crest cells. What is more, a deficit of muscles of mastication, except the masseter, correlates in the pathomechanism of mandibular underdevelopment. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006616DOI Listing

The Impact of Middle Eastern Crisis on Cleft Care: Evaluation of Demographic and Perioperative Data in Syrian Refugees With Cleft Lip and Palate.

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Hacettepe University Faculty of Medicine, Department of Plastic Reconstructive and Aesthetic Surgery, Research and Application Center for the Treatment of Cleft Lip and Palate and Craniomaxillofacial Deformities.

The cleft lip and palate (CL/P) define a heterogeneous group of congenital deformities, which are morphologically highly diverse, with a complex and multifactorial etiology. Affected children may experience social problems due to negative effects on speech, hearing, facial appearance, as well as negative psychological effects on the parents. In 2011, after the civil war began in Syria, a great wave of immigration began to Turkey and other neighboring countries. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006649DOI Listing

Vertical Distraction for the Treatment of Congenital Syngnathia.

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Division of Plastic and Reconstructive Surgery, Keck School of Medicine, University of Southern California.

Congenital syngnathia is a very rare condition that presents with several unique challenges. There is no consensus on the best operative approach to manage this condition. Readhesion of surgically separated tissues is a relatively common occurrence. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006690DOI Listing

Beare-Stevenson Syndrome With Blepharoptosis as a Complication of Front-Orbital Advancement and Remodeling.

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Division of Neurosurgery, University of Alberta, Edmonton, Canada.

Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder characterized by a broad range of congenital malformations including craniosynostosis, cutis gyrata, facial deformities, and abnormal genitalia. The authors report a case of a 7 month old female who developed a mechanical ptosis secondary to dermatochalasis as a complication of fronto-orbital advancement and remodeling (FOAR) surgery which subsequently required multiple lid surgeries to reverse ptosis. This is the first report of blepharoptosis correction in a child with BSS as a complication of FOAR. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006638DOI Listing

Broad, Recurrent Nasal Dermoid Cyst: A Challenging Task.

Authors:
Selçuk Kuzu

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Medical Faculty, Otorhinolaryngology Clinic, Afyon Health Sciences University, Afyonkarahisar, Turkey.

Nasal dermoid sinus cyst is a rare congenital midline anomaly. The embryological origin is different from the dermoid cysts seen in other parts of the face. Nasal dermoid sinus cysts constitute 1% to 3% of all dermoid cysts and 11% to 12% of head and neck dermoid cysts. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006683DOI Listing

Postauricular Masses.

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Department of Otolaryngology, Head and Neck Surgery, Gulhane Medical School, Ankara, Turkey.

Objective: The postauricular region (PR) is an anatomic area that has been neglected until now, due to the fact that the significant cosmetic changes and features of this region are often overlooked. There are limited and inconsistent data about postauricular masses in the literature and the definition of the PR and its borders remain unclear. The aim of the present study was to define the PR and evaluate benign and malignant masses that may arise in the PR. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006526DOI Listing

PHOX2B Immunostaining: A Simple and Helpful Tool for the Recognition of Ganglionic Cells and Diagnosis of Hirschsprung Disease.

Am J Surg Pathol 2020 Jun 26. Epub 2020 Jun 26.

Departments of Pathology.

Hirschsprung disease (HD) is a congenital disorder of the enteric nervous system that occurs in ∼1 in 5000 live births. It is characterized by the absence of ganglionic cells (GCs) in the distal intestine. The diagnosis relies on the thorough analysis of a rectal suction biopsy (RSB), which must show a complete absence of GCs after careful examination of at least 100 serial sections. Read More

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http://dx.doi.org/10.1097/PAS.0000000000001528DOI Listing

Feasibility Case Series of Environment and Sleep in Infants with Congenital Heart Disease.

Nurs Res 2020 Jun 22. Epub 2020 Jun 22.

The Ohio State University College of Nursing, Columbus, OH The Ohio State University College of Nursing, Columbus, OH.

Background: Developmental delay is a significant concern for infants born with complex congenital heart disease (CCHD). Environmental exposures (e.g. Read More

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http://dx.doi.org/10.1097/NNR.0000000000000457DOI Listing

Feasible alternatives to DBS in the retrospective diagnosis of congenital cytomegalovirus infection.

J Clin Virol 2020 Jun 10;129:104504. Epub 2020 Jun 10.

Virology Laboratory, Microbiology Department, University Hospital 12 de Octubre, Madrid, Spain; Biomedical Research Institute imas12. University Hospital, 12 de Octubre, Madrid, Spain; Department of Medicine, School of Medicine, Complutense University, Madrid, Spain.

Background: Retrospective diagnosis of congenital cytomegalovirus (cCMV) infection may be challenging mainly because of the high variable sensitivity of PCR on dried blood spots (DBS) samples.

Objectives: To compare cytomegalovirus (CMV) viral load (VL) values in different samples obtained at birth from infants with cCMV infection. To evaluate dried umbilical cord (DUC) samples as an alternative to DBS. Read More

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http://dx.doi.org/10.1016/j.jcv.2020.104504DOI Listing

Genetic background influences the capacity for medial edge epithelium disintegration and phenotype of cleft palate in TGFβ3 knockout mice.

J Oral Biosci 2020 Jun 27. Epub 2020 Jun 27.

Department of Oral Anatomy, Division of Oral Structure, Function, and Development, Asahi University School of Dentistry, 1851-1 Hozumi, Mizuho, Gifu 501-0296, Japan; Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Yoshida-Konoe-Cho, Sakyo-Ku, Kyoto 606-8501, Japan. Electronic address:

Objectives: Cleft palate is a frequent congenital craniofacial malformation of unknown etiology. Transforming growth factor (TGF) β3 is required for palatal shelf fusion. Although TGFβ3 knockout (KO) mice are widely used mouse models for cleft palate, cleft palate phenotypes differ among these mice. Read More

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http://dx.doi.org/10.1016/j.job.2020.06.002DOI Listing

Experience and Outcomes of Surgically Implanted Melody Valve in the Pulmonary Position.

Ann Thorac Surg 2020 Jun 27. Epub 2020 Jun 27.

Department of Cardiac Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA.

Background: Multiple congenital cardiac malformations require pulmonary valve replacement (PVR) and/or right ventricular outflow (RVOT) reconstruction. PVR remains challenging in children due to limited growth potential of prosthetic valves. We evaluated our outcomes in patients undergoing surgical implantation of a Melody valve in the RVOT. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2020.05.061DOI Listing

Intraseptal anomalous coronaries: a radical solution for a radical problem?

Ann Thorac Surg 2020 Jun 27. Epub 2020 Jun 27.

Coronary Anomalies Program, Texas Center for Pediatric and Congenital Heart Disease, UT Health Austin / Dell Children's Medical Center, Austin, TX; Department of Surgery and Perioperative Care, The University of Texas at Austin Dell Medical School, Austin, TX, 4900 Mueller Blvd. Suite 3S.003, Austin, TX 78703. Electronic address:

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http://dx.doi.org/10.1016/j.athoracsur.2020.05.054DOI Listing

Physical Activity Is Associated With Better Vascular Function in Children and Adolescents With Congenital Heart Disease.

Can J Cardiol 2019 Dec 28. Epub 2019 Dec 28.

Division of Cardiology, Department of Paediatrics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada. Electronic address:

Background: Aortic stiffness is an important marker of cardiovascular risk and is elevated in children and adolescents with congenital heart disease (CHD) compared with healthy children; however, in children with CHD, little is known about the interaction between aortic stiffness and physical activity-a key determinant of aortic stiffness.

Methods: For this cross-sectional cohort study, we recruited children and adolescents aged 9-16 years with moderate-to-complex CHD from British Columbia Children's Hospital and travelling partnership clinics across the province of British Columbia and the Yukon territory. Mean daily minutes of moderate-to-vigorous physical activity were objectively assessed using an ActiGraph accelerometer worn over the right hip during waking hours for 7 days. Read More

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http://dx.doi.org/10.1016/j.cjca.2019.12.019DOI Listing
December 2019

The GLOW study does not light up the true PES recommendations for management of hypoglycemia in newborns.

J Pediatr 2020 Jun 27. Epub 2020 Jun 27.

Emeritus Professor and Chair, Dept of Pediatrics, University of Pittsburgh Professorial Lecturer, Pediatric Endocrinology and Diabetes Icahn School of Medicine at Mt Sinai, NY.

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http://dx.doi.org/10.1016/j.jpeds.2020.06.070DOI Listing

Large animals as models of atrial fibrillation.

Adv Clin Exp Med 2020 Jun 30. Epub 2020 Jun 30.

Department of Internal Medicine and Clinic of Diseases of Horses, Dogs and Cats, Faculty of Veterinary Medicine, Wrocław University of Environmental and Life Sciences, Poland.

In clinical practice, atrial fibrillation (AF) is the most common cardiac arrhythmia in humans and it may lead to numerous complications, including central nervous system embolism. The electrical activity of the heart in AF is rapid and chaotic, while the atrioventricular conduction leads to irregular ventricular contraction. Consequently, the stroke volume is reduced, which may lead to symptoms of heart failure. Read More

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http://dx.doi.org/10.17219/acem/122130DOI Listing

Transcatheter Coil Embolization in 17 Patients with 22 Coronary Artery Fistulas.

Tex Heart Inst J 2020 Apr;47(2):135-139

Department of Interventional Cardiology, Arkansas Heart Hospital, Little Rock, Arkansas 72211.

Coronary artery fistulas are rare anomalies that often become symptomatic with age. They are typically diagnosed incidentally during coronary angiography. The chief nonsurgical treatment is transcatheter coil embolization. Read More

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http://dx.doi.org/10.14503/THIJ-18-6786DOI Listing

Histologic Abnormalities of the Ascending Aorta: Effects on Aortic Remodeling after Intracardiac Repair of Tetralogy of Fallot.

Tex Heart Inst J 2020 Apr;47(2):86-95

Department of Cardiothoracic and Vascular Surgery, All India Institute of Medical Sciences, New Delhi 110029, India.

We evaluated aortic tissue specimens from patients undergoing tetralogy of Fallot repair, to determine whether histologic abnormalities affect postsurgical aortic remodeling and other patient-related variables. Using light microscopy, we studied full-thickness aortic wall tissue operatively excised from 118 consecutive patients undergoing intracardiac repair of tetralogy of Fallot. We performed multiple linear regression analysis to identify independent predictors of change in aortic root dimensions, which we measured with echocardiography after repair and every 3 months thereafter. Read More

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http://dx.doi.org/10.14503/THIJ-17-6279DOI Listing

Anomalous Origin of Left Coronary Artery with Intramural Aortic Course Causing Symptoms in a Teenaged Athlete.

Tex Heart Inst J 2020 Apr;47(2):165-167

Cardiovascular Institute, Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos, 28040 Madrid, Spain.

Anomalous origin of the left coronary artery from the opposite sinus of Valsalva with an intramural aortic course is a rare congenital anomaly with a poor prognosis. We report the case of a 14-year-old soccer player who briefly lost consciousness while sprinting. He had exertional chest pain, syncope, ischemic changes on his electrocardiogram, and elevated cardiac troponin levels. Read More

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http://dx.doi.org/10.14503/THIJ-16-5771DOI Listing

The Significance of Staging in the Treatment of Congenital Cholesteatoma in Children.

Ear Nose Throat J 2020 Jun 30:145561320933965. Epub 2020 Jun 30.

National Center for Children's Health, Beijing, People's Republic of China.

Objectives: To analyze the clinical characteristics of congenital cholesteatoma (CC), to explore the risk factors related to recurrence of the disease, and to clarify the importance of staging for treatment.

Methods: A total of 87 patients were followed up for more than 5 years, who had undergone surgical procedures for CC from September 2010 to January 2017 in Beijing Children's Hospital, Capital Medical University. Patients with CC were identified in accordance with the following Levenson's criteria. Read More

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http://dx.doi.org/10.1177/0145561320933965DOI Listing
June 2020
0.881 Impact Factor

The impact of foetal restrictions on mode of delivery in women with inherited bleeding disorders.

Eur J Haematol 2020 Jun 30. Epub 2020 Jun 30.

RCSI Department of Obstetrics and Gynaecology, Coombe Women and Infants University Hospital, Dublin 8, Dublin, Ireland.

Objectives: Management of pregnancy in women with congenital bleeding disorders (CBD) is challenging and requires understanding of risks conferred to both the mother and foetus. Some elements of labour management are considered to increase the risk of neonatal bleeding and are not recommended for neonates at risk of a significant bleeding disorder. The impact of these restrictions on obstetric outcomes in women with CBD is unknown. Read More

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http://dx.doi.org/10.1111/ejh.13481DOI Listing

New device permitting non-invasive reversal of fetoscopic tracheal occlusion: ex-vivo and in-vivo study.

Ultrasound Obstet Gynecol 2020 Jun 30. Epub 2020 Jun 30.

My FetUZ Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU, Leuven, Belgium.

Objective: One of the drawbacks of fetoscopic endoluminal tracheal occlusion for congenital diaphragmatic hernia is the need for a second invasive intervention to reestablish airway patency. The "Smart-TO" (Strasbourg University-BSMTI, France) is a new balloon for endoluminal tracheal occlusion, which spontaneously deflates when placed in a strong magnetic field, therefore overcoming the need of a second procedure. The safety and efficacy of this device has not been demonstrated. Read More

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http://dx.doi.org/10.1002/uog.22132DOI Listing

Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathy.

Mitochondrial DNA A DNA Mapp Seq Anal 2020 Jun 30:1-7. Epub 2020 Jun 30.

Department for Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark.

Mitochondrial DNA (mtDNA) haplogroup (hg) H has been reported as a susceptibility factor for hypertrophic cardiomyopathy (HCM). This was established in genetic association studies, however, the SNP or SNP's that are associated with the increased risk have not been identified. Hg H is the most frequent European mtDNA hg with greater than 80 subhaplogroups (subhgs) each defined by specific SNPs. Read More

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http://dx.doi.org/10.1080/24701394.2020.1782897DOI Listing

Immunosuppressant associated torsades de pointes after acute heart rejection in an 8-year-old boy.

Cardiol Young 2020 Jun 30:1-2. Epub 2020 Jun 30.

Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.

Torsades de pointes is a kind of life-threatening ventricular tachyarrhythmia. We report a case of torsades de pointes in an 8-year-old boy with acute rejection after orthotopic heart transplantation. The causes of torsades de pointes could be either congenital or acquired. Read More

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http://dx.doi.org/10.1017/S1047951120001602DOI Listing

Prenatal sonography of extracorporeal ductus venosus in association with large fetal gastroschisis.

J Clin Ultrasound 2020 Jun 29. Epub 2020 Jun 29.

The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Heath Sciences University, Brooklyn, New York, USA.

Liver herniation commonly associated with omphalocele occurs in only approximately 2.3% to 16% of fetuses with gastroschisis. Liver herniation in such cases is associated with considerably decreased survival rates (43% vs 97% with or without liver herniation, respectively). Read More

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http://dx.doi.org/10.1002/jcu.22881DOI Listing

Application of Tissue Engineering and Regenerative Medicine in Maternal-Fetal Medicine.

Adv Exp Med Biol 2020 ;1249:161-171

Department of obstetrics and gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

A rapid development of ultrasonography has enabled physicians to make earlier prenatal diagnosis of various fetal congenital diseases, in maternal-fetal medicine. Due to the significant mortality and irreversible damage to fetal vital organs during pregnancy, fetal surgeries have been tried in some congenital disease including congenital diaphragmatic hernia, twin-to-twin transfusion syndrome (TTTS), myelomeningocele (MMC), and lower urinary tract obstruction. However, open fetal surgery requires laparotomy followed by hysterotomy, which can cause preterm premature rupture of membrane (pPROM), oligohydramnios, preterm delivery, dehiscence of uterine wall, and other maternal complications during pregnancy. Read More

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http://dx.doi.org/10.1007/978-981-15-3258-0_11DOI Listing
January 2020

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

J Clin Immunol 2020 Jun 30. Epub 2020 Jun 30.

Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by weakly virulent mycobacteria and other types of intra-macrophagic pathogens. The 16 genes associated with MSMD display a considerable level of allelic heterogeneity, accounting for 31 distinct disorders with variable clinical presentations and prognosis. Most of MSMD deficiencies are isolated, referred to as selective susceptibility to mycobacterial diseases. Read More

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http://dx.doi.org/10.1007/s10875-020-00813-7DOI Listing

Second branchial cleft fistula/sinus tract endoscopy: a novel intraoperative technique assisting complete surgical resection.

Eur Arch Otorhinolaryngol 2020 Jun 29. Epub 2020 Jun 29.

Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine, Alexandria University, El-Khartoum Square, Azarita Medical Campus, Alexandria, 21542, Egypt.

Purpose: Second branchial cleft (BC) sinus/fistula anomalies usually present in children. Their definitive management requires complete tract surgical excision, which necessities accurate extension assessment. Our aim is to propose and describe a novel intraoperative endoscopic technique that can help in evaluating the exact BC anomaly tract extension and overcome disadvantages of currently used methods including imaging and intraoperative methylene blue tract injection. Read More

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http://dx.doi.org/10.1007/s00405-020-06158-6DOI Listing

Fetal therapy for congenital hydrocephalus-where we came from and where we are going.

Childs Nerv Syst 2020 Jun 29. Epub 2020 Jun 29.

Neurosurgery Division, Department of Neurology, State University of Campinas (UNICAMP), Campinas, SP, Brazil.

Despite unfavorable outcomes during the early experience with in utero intervention for congenital hydrocephalus, improvements in prenatal diagnosis, patient selection, and fetal surgery techniques have led to a renewed interest in fetal intervention for congenital hydrocephalus. Research studies and clinical evidence shows that postnatal cerebrospinal fluid diversion to release intraventricular pressure and cerebral mantle compression usually arrives late to avoid irreversible brain damage. Make sense to decompress those lateral ventricles as soon as possible during the intrauterine life when hydrocephalus is antenatally detected. Read More

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http://dx.doi.org/10.1007/s00381-020-04738-9DOI Listing

Living donor liver transplantation for congenital absence of portal vein in portal venous reconstruction with a great saphenous vein graft.

Surg Case Rep 2020 Jun 29;6(1):153. Epub 2020 Jun 29.

Department of Surgery, Nagasaki University Graduate School of Biomedical Science, 1-7-1 Sakamoto, Nagasaki, 852-8102, Japan.

Background: Congenital absence of portal vein (CAPV) is a rare structural anomaly in which the portal vein (PV) blood that normally flow into the liver directly drains into the systemic venous system through other collateral circulation. Congenital portal vein shunts (CPSs) is classified into types I and II according to the absence or presence of the intrahepatic portal vein, respectively. The CPS type I is also known as CAPV. Read More

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http://dx.doi.org/10.1186/s40792-020-00916-8DOI Listing

Channelopathies of voltage-gated L-type Cav1.3/α and T-type Cav3.1/α Ca channels in dysfunction of heart automaticity.

Pflugers Arch 2020 Jun 29. Epub 2020 Jun 29.

Institut de Génomique Fonctionnelle, Université de Montpellier, CNRS, INSERM, 141, rue de la cardonille, 34094, Montpellier, France.

The heart automaticity is a fundamental physiological function in vertebrates. The cardiac impulse is generated in the sinus node by a specialized population of spontaneously active myocytes known as "pacemaker cells." Failure in generating or conducting spontaneous activity induces dysfunction in cardiac automaticity. Read More

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http://dx.doi.org/10.1007/s00424-020-02421-1DOI Listing

Neck modularity in total hip arthroplasty: a retrospective study of nine hundred twenty-eight titanium neck implants with a maximum follow-up of eighteen years.

Int Orthop 2020 Jun 29. Epub 2020 Jun 29.

Major Hospital, Parma, Italy.

Purpose: Neck modularity was introduced to improve total hip arthroplasty (THA) accuracy, but it has been associated with early breakages and corrosion issues. In our hospital, modular necks have been in clinical use since the 1990s. We retrospectively analysed the occurrence of these sequelae in implants placed between January 2000 and December 2014. Read More

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http://dx.doi.org/10.1007/s00264-020-04686-8DOI Listing

Diastolic Vortex Alterations with Reducing Left Ventricular Volume: An in Vitro Study.

J Biomech Eng 2020 Jun 30. Epub 2020 Jun 30.

School of Mechanical and Aerospace Engineering, Oklahoma State University, 201 General Academic Building, Stillwater, OK 74078.

Despite the large number of studies of intraventricular filling dynamics for potential clinical applications, little is known as to how the diastolic vortex ring properties are altered with reduction in internal volume of the cardiac left ventricle (LV). The latter is of particular importance in LV diastolic dysfunction and in congenital diseases such as hypertrophic cardiomyopathy (HCM), where LV hypertrophy can reduce LV internal volume. We hypothesized that peak circulation and the rate of decay of circulation of the diastolic vortex would be altered with reducing end diastolic volume (EDV) due to increasing confinement. Read More

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http://dx.doi.org/10.1115/1.4047663DOI Listing

Prevalence of toxoplasmosis, rubella, cytomegalovirus, and herpes (TORCH) infections among women attending the antenatal care clinic, maternity hospital in Abha, Southwestern Saudi Arabia.

Saudi Med J 2020 Jul;41(7):757-762

Department of Microbiology and Clinical Parasitology, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia. E-mail.

Objectives: To investigate the presence of toxoplasmosis, rubella, cytomegalovirus, and herpes (TORCH) infections in women attending at the antenatal care clinic in Abha, Kingdom of Saudi Arabia (KSA). Methods: A total of 190 blood samples were collected from Abha maternity hospital in Aseer region, KSA, from February 2018 to May 2019 and screened with the TORCH panel (toxoplasmagondii [IgG/IgM], cytomegalovirus [CMV] [IgG/IgM], rubella [IgG/IgM], and herpes simplex type 1 and 2 [IgG/IgM]).

Results: The mean age was 31. Read More

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http://dx.doi.org/10.15537/smj.2020.7.25121DOI Listing

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Saudi Med J 2020 Jul;41(7):703-708

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

Objectives: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program.

Methods: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Read More

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http://dx.doi.org/10.15537/smj.2020.7.25147DOI Listing

Genomic analyses implicate noncoding de novo variants in congenital heart disease.

Nat Genet 2020 Jun 29. Epub 2020 Jun 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffected trios. Neural network prediction of noncoding DNV transcriptional impact identified a burden of DNVs in individuals with CHD (n = 2,238 DNVs) compared to controls (n = 4,177; P = 8. Read More

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http://dx.doi.org/10.1038/s41588-020-0652-zDOI Listing

Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis.

BMJ Case Rep 2020 Jun 29;13(6). Epub 2020 Jun 29.

Paediatric Gastroenterology and Hepatology, University Children's Hospital, Eberhard Karls University Tubingen, Tubingen, Germany.

Untreated progressive familial intrahepatic cholestasis (PFIC) type 2, or bile salt exporter protein deficiency, frequently leads to severe pruritus, impaired growth and progressive liver fibrosis with risk of organ failure. We describe a 15-month-old male patient with severe pruritus diagnosed with PFIC type 2 enrolled in an open-label phase 2 study who received 4 weeks of treatment with odevixibat, an ileal bile acid transporter inhibitor under development for cholestatic liver disease treatment. The patient experienced reductions in serum bile acids and improvement in itching and sleep scores, and odevixibat was well tolerated. Read More

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http://dx.doi.org/10.1136/bcr-2019-234185DOI Listing

Adult congenital heart disease in Spain: present situation and future perspectives.

Rev Esp Cardiol (Engl Ed) 2020 Jun 26. Epub 2020 Jun 26.

Department of Cardiology III, Adult Congenital and Valvular Heart Disease, University Hospital Muenster, Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2020.04.020DOI Listing

Congenital dumbbell neurenteric cyst mimics neonatal brachial plexus injury.

Pediatr Neonatol 2020 Jun 5. Epub 2020 Jun 5.

Department of Neurosurgery, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Rd., Taipei City, 10449, Taiwan; Department of Medicine, Mackay Medical College, No.46, Sec. 3, Zhongzheng Rd., New Taipei City, Sanzhi Dist. 252, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2020.05.004DOI Listing

Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan.

J Orthop Sci 2020 Jun 26. Epub 2020 Jun 26.

Department of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, Japan. Electronic address:

Background: Congenital limb deficiency is a rare anomaly that impairs limb function. Transverse deficiency accounts for approximately half of congenital limb deficiency cases. In Japan, there have been no detailed data of clinical features, especially treatment approaches, of this disorder. Read More

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http://dx.doi.org/10.1016/j.jos.2020.05.008DOI Listing

Congenital unilateral absence of the lacrimal gland combined with lipoma. A rare case of unilateral congenital alacrima.

Arch Soc Esp Oftalmol 2020 Jun 26. Epub 2020 Jun 26.

Servicio de Oftalmología, Hospital Marina Baixa, Villajoyosa, Alicante, España.

The purpose of this report is to describe a case of a unilateral congenital absence of the lacrimal gland in a 7-year-old girl with ocular symptoms, no tear production and a conjunctival tumour at the supero-external angle of the right eye. The visual acuity was 20/20 in both the eyes. The right eye showed mucous secretion, corneal erosions and filaments. Read More

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http://dx.doi.org/10.1016/j.oftal.2020.05.027DOI Listing

The Face Is the Mirror of the Soul. The Cardiovascular Physical Exam Is Not Yet Dead!

Curr Probl Cardiol 2020 Jun 12:100644. Epub 2020 Jun 12.

Cardiac pathology can be congenital or acquired with underlying genetic predispositions. In this era of medicine there is a concern that the comprehensive physical examination doctors prided themselves on is becoming a lost art. Research studies have also revealed a decline in physical examination skills. Read More

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http://dx.doi.org/10.1016/j.cpcardiol.2020.100644DOI Listing

Talipes Equinus Deformity Caused by Fibrous Gastrocnemius Muscle Contracture After Direct Contusion in Football Players: Report of Two Cases.

J Foot Ankle Surg 2020 Jul - Aug;59(4):816-820

Professor, Department of Orthopaedic Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan.

Two main causes of gastrocnemius contracture have been considered: 1) congenital deformities in pediatric patients, such as limb-length discrepancy, cerebral palsy, flatfoot, and clubfoot; and 2) secondary conditions such as immobilization for trauma or a nonfunctional limb. Talipes equinus deformity caused by fibrous gastrocnemius contracture after a direct muscle contusion is extremely rare. We describe 2 cases of talipes equinus deformity caused by fibrous gastrocnemius muscle contracture after a direct contusion in football players. Read More

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http://dx.doi.org/10.1053/j.jfas.2019.10.004DOI Listing

Stress ulcer prophylaxis versus placebo-a blinded randomized control trial to evaluate the safety of two strategies in critically ill infants with congenital heart disease (SUPPRESS-CHD).

Trials 2020 Jun 29;21(1):590. Epub 2020 Jun 29.

Harvard Medical School, Boston, MA, USA.

Background: Critically ill infants with congenital heart disease (CHD) are often prescribed stress ulcer prophylaxis (SUP) to prevent upper gastrointestinal bleeding, despite the low incidence of stress ulcers and limited data on the safety and efficacy of SUP in infants. Recently, SUP has been associated with an increased incidence of hospital-acquired infections, community-acquired pneumonia, and necrotizing enterocolitis. The objective of this pilot study is to investigate the feasibility of performing a randomized controlled trial to assess the safety and efficacy of withholding SUP in infants with congenital heart disease admitted to the cardiac intensive care unit. Read More

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http://dx.doi.org/10.1186/s13063-020-04513-wDOI Listing

Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review.

BMC Pediatr 2020 Jun 29;20(1):318. Epub 2020 Jun 29.

Department of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

Background: The occurrence of multiple endocrine neoplasia type 2B (MEN2B) in Asians is very rare. In particular, patients with intractable constipation as the main clinical manifestation are even rarer. Atypical clinical manifestations are likely to lead to a diagnostic delay. Read More

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http://dx.doi.org/10.1186/s12887-020-02224-4DOI Listing

Cardiac-specific methylation patterns of circulating DNA for identification of cardiomyocyte death.

BMC Cardiovasc Disord 2020 Jun 29;20(1):310. Epub 2020 Jun 29.

Translational medicine center, Guangdong Women and Children Hospital, Guangzhou, 511400, China.

Background: Correct detection of human cardiomyocyte death is essential for definitive diagnosis and appropriate management of cardiovascular diseases. Although current strategies have proven utility in clinical cardiology, they have some limitations. Our aim was to develop a new approach to monitor myocardial death using methylation patterns of circulating cell-free DNA (cf-DNA). Read More

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http://dx.doi.org/10.1186/s12872-020-01587-xDOI Listing

Munich Comparative Study: Prospective Long-Term Outcome of the Transcatheter Melody Valve Versus Surgical Pulmonary Bioprosthesis With Up to 12 Years of Follow-Up.

Circ Cardiovasc Interv 2020 Jul;13(7):e008963

Department of Pediatric Cardiology and Congenital Heart Disease (S.G., P.E., A.E., A.H., C.M., D.T.), German Heart Center Munich, Technische Universität München.

Background: Percutaneous pulmonary valve implantation (PPVI) has become an important treatment of right ventricular outflow tract dysfunction. Studies directly comparing the long-term outcome of PPVI with the Melody valve to surgical pulmonary valve replacement (SPVR) are lacking.

Methods: All patients treated with PPVI with the Melody valve and SPVR between January 2006 and December 2018 in our center were enrolled into a database and investigated with a standard follow-up protocol. Read More

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http://dx.doi.org/10.1161/CIRCINTERVENTIONS.119.008963DOI Listing

An Increased Burden of Ion Channel Gene Variants Is Related to Distinct Phenotypes in Pediatric Patients with Left Ventricular Noncompaction.

Circ Genom Precis Med 2020 Jun 29. Epub 2020 Jun 29.

Department of Pediatrics, University of Toyama, Toyama, Japan.

- Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it is associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate the ion channel genetic landscape of LVNC and identify genotype-phenotype correlations in a large Japanese cohort. Read More

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http://dx.doi.org/10.1161/CIRCGEN.119.002940DOI Listing

A guide to differences/disorders of sex development/intersex in children and adolescents.

Aust J Gen Pract 2020 07;49(7):417-422

BSc (Med), MBBS, PhD, MRCP (UK), FRACP, Senior Staff Specialist, Institute of Endocrinology and Diabetes, The Children@s Hospital at Westmead, NSW; Clinical Senior Lecturer, Sydney Medical School, Faculty of Medicine and Health, University of Sydney, NSW.

Background: Differences/disorders of sex development (DSD) or 'intersex' encompass a broad range of congenital variations in the complex pathways involved in the development of sex characteristics. Components of these pathways include sex chromosomes, genes involved in gonadal development, hormone production and action, and the development of internal and external genital structures. Many variations are rare, and some (eg congenital adrenal hyperplasia) are associated with urgent medical needs. Read More

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http://dx.doi.org/10.31128/AJGP-03-20-5266DOI Listing

Prevalence and Genetic Diversity of Atypical Porcine Pestivirus (APPV) Detected in South Korean Wild Boars.

Viruses 2020 Jun 24;12(6). Epub 2020 Jun 24.

Virus Disease Division, Animal and Plant Quarantine Agency, Gimchen, Gyeongbuk-do 39660, Korea.

Atypical porcine pestivirus (APPV), currently classified as , causes congenital tremor (CT) type A-II in piglets. Eighteen APPV strains were identified from 2297 South Korean wild boars captured in 2019. Phylogenetic analysis of the structural protein E2 and nonstructural proteins NS3 and Npro classified the APPV viruses, including reference strains, into Clades I, II and III. Read More

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http://dx.doi.org/10.3390/v12060680DOI Listing