385,824 results match your criteria Congenital Patterned Leukodermas


Obstructed hemivagina with ipsilateral renal and urinary tract anomaly presenting as an unusual cause of acute abdomen: a radiologic perspective.

BMJ Case Rep 2022 Jun 27;15(6). Epub 2022 Jun 27.

Department of Radiology, Philippine General Hospital, Manila, Philippines.

Obstructed hemivagina with ipsilateral renal anomaly (OHVIRA) is a rare congenital genitourinary defect with a triad of unilateral vaginal obstruction, uterine anomaly and ipsilateral renal agenesis. This paper reports an unusual presentation of OHVIRA, with our patient experiencing severe abdominal pain from a left tubo-ovarian abscess that is contralateral to the side of the vaginal outflow obstruction. Another reportable finding is our patient's rare association of a trifid ureter that fuses distally before inserting ectopically in her vaginal canal. Read More

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Mechanical Ventilation during ECMO: Lessons from Clinical Trials and Future Prospects.

Semin Respir Crit Care Med 2022 Jun 27. Epub 2022 Jun 27.

Critical Care Research Group, The Prince Charles Hospital, Brisbane, QLD, Australia.

Acute Respiratory Distress Syndrome (ARDS) accounts for 10% of ICU admissions and affects 3 million patients each year. Despite decades of research, it is still associated with one of the highest mortality rates in the critically ill. Advances in supportive care, innovations in technologies and insights from recent clinical trials have contributed to improved outcomes and a renewed interest in the scope and use of Extracorporeal life support (ECLS) as a treatment for severe ARDS, including high flow veno-venous Extracorporeal Membrane Oxygenation (VV-ECMO) and low flow Extracorporeal Carbon Dioxide Removal (ECCO2R). Read More

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Fusion imaging in congenital heart disease: just a pretty picture or a new tool to improve patient management?

Rev Esp Cardiol (Engl Ed) 2022 Jun 24. Epub 2022 Jun 24.

Heart Lung Center Leiden, Leiden University Medical Center, The Netherlands. Electronic address:

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Relationship Between Environmental Air Quality and Congenital Heart Defects.

Nurs Res 2022 Jul-Aug 01;71(4):266-274. Epub 2022 Mar 4.

Background: Congenital heart defects (CHDs) affect 40,000 U.S. infants annually. Read More

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Effect of Nitric Oxide via Cardiopulmonary Bypass on Ventilator-Free Days in Young Children Undergoing Congenital Heart Disease Surgery: The NITRIC Randomized Clinical Trial.

JAMA 2022 Jun 27. Epub 2022 Jun 27.

Critical Care Research Group, Wesley Medical Research, St Andrew's War Memorial Hospital, Brisbane, Queensland, Australia.

Importance: In children undergoing heart surgery, nitric oxide administered into the gas flow of the cardiopulmonary bypass oxygenator may reduce postoperative low cardiac output syndrome, leading to improved recovery and shorter duration of respiratory support. It remains uncertain whether nitric oxide administered into the cardiopulmonary bypass oxygenator improves ventilator-free days (days alive and free from mechanical ventilation).

Objective: To determine the effect of nitric oxide applied into the cardiopulmonary bypass oxygenator vs standard care on ventilator-free days in children undergoing surgery for congenital heart disease. Read More

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Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia.

Eur Arch Otorhinolaryngol 2022 Jun 27. Epub 2022 Jun 27.

Faculty of Medicine and Translational Neurosciences, University of Antwerp, Antwerp, Belgium.

Purpose: Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58-61%) and is more common in the male sex. Read More

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Urinary protein to creatinine ratio during the first month of life in very preterm infants-a prospective cohort study (PROTIPREMA).

Pediatr Nephrol 2022 Jun 27. Epub 2022 Jun 27.

Néonatologie, Réanimation Néonatale Et Pédiatrique, CHU La Réunion, Site Sud, Saint Pierre, France.

Background: Preterm infants have physiological proteinuria and values of urine protein to creatinine ratio (UPr/Cr) are higher compared to full-term infants during the first week of life. Few investigations explored the changes of proteinuria in very preterm infants (VPI, ≤ 31 weeks of gestation) older than a week, and it is unclear whether high and persistent proteinuria is associated with kidney injury in this population. This study aimed to (1) observe the changes of UPr/Cr during the first month of life in VPI and (2) describe clinical and biological variables associated with the changes of UPr/Cr. Read More

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Down Syndrome: A Review of Key Perioperative Implications.

AORN J 2022 Jul;116(1):4-20

Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st chromosome. Down syndrome is associated with numerous comorbidities that can pose challenges for the perioperative nurse caring for a patient with DS undergoing surgery. Read More

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Transcatheter Pulmonary Valve Replacement from Autologous Pericardium with a Self-Expandable Nitinol Stent in an Adult Sheep Model.

J Vis Exp 2022 Jun 8(184). Epub 2022 Jun 8.

Department of Pediatric Cardiology and Congenital Heart Disease, Charité University Medicine Berlin; Department of Pediatric Cardiology and Congenital Heart Disease, Deutsches Herzzentrum Berlin; DZHK (German Centre for Cardiovascular Research) and BMBF (German Ministry of Education and Research); BIH (Berlin Institute of Health); BCRT (BIH Center of Regenerative Therapies);

Transcatheter pulmonary valve replacement has been established as a viable alternative approach for patients suffering from right ventricular outflow tract or bioprosthetic valve dysfunction, with excellent early and late clinical outcomes. However, clinical challenges such as stented heart valve deterioration, coronary occlusion, endocarditis, and other complications must be addressed for lifetime application, particularly in pediatric patients. To facilitate the development of a lifelong solution for patients, transcatheter autologous pulmonary valve replacement was performed in an adult sheep model. Read More

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Congenital Cytomegalovirus Knowledge, Practices, and Beliefs Among Primary Care Physicians and Newborn Hospitalists.

J Prim Care Community Health 2022 Jan-Dec;13:21501319221106880

Midwestern University, Glendale, AZ, USA.

Background: Congenital cytomegalovirus (cCMV) affects 1 in every 200 United States infants, at present there are 9 states which mandate newborn cCMV screening. With more infants being diagnosed, more children will need continuing care from providers who are knowledgeable about cCMV.

Objectives: To examine pediatric provider knowledge, practices, and beliefs around cCMV. Read More

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The return process of physiological umbilical herniation in human fetuses: The possible role of the vascular tree and umbilical ring.

J Anat 2022 Jun 27. Epub 2022 Jun 27.

Human Health Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

The human intestine elongates during the early fetal period, herniates into the extraembryonic coelom (EC), and subsequently returns to the abdominal cavity (AC). The process by which the intestinal loop returns to the abdomen remains unclear. This study aimed to document positional changes in the intestinal tract with the superior mesenteric artery (SMA) and branches in 3D to elucidate the intestinal loop return process (transition phase). Read More

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MODERN ASPECTS OF INTRAUTERINE INFECTION.

Wiad Lek 2022 ;75(5 pt 2):1395-1402

PRESHOW UNIVERSITY IN PRESOW, PRESOW, SLOVAK REPUBLIC.

Objective: The aim: To analyze the main types of intrauterine infections(IUI), their routes of transmission and features of the clinical picture, as well as the influence of pathogens on the course of pregnancy.

Patients And Methods: Materials and methods: Data review of native and foreign literature published over the past 5 years.

Conclusion: Conclusions: Summing up, it should be noted the role of infections in the pathogenesis of pathological conditions that form in the perinatal period. Read More

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January 2022

Prenatal Diagnosis of Cleft and Craniofacial Conditions: An International Analysis of Practice Patterns.

J Craniofac Surg 2022 Jun 27. Epub 2022 Jun 27.

Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.

Abstract: Prenatal diagnosis of congenital anomalies is associated with increased parental stress. Surgical prenatal counseling for parents expecting a child with an orofacial cleft has been shown to reduce parental anxiety through education and expectation setting. Despite the prevalence and significance of these conditions throughout the world, little is known of international counseling practices as they pertain to clefts and other craniofacial conditions, specifically regarding topics of counseling and discussions of ethical issues including interruption of pregnancy (IOP). Read More

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Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.

Medicine (Baltimore) 2022 Jun 24;101(25):e29476. Epub 2022 Jun 24.

Hepatology Department, National Children's Hospital, Hanoi, Vietnam.

Rationale: Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary Δ4-3-oxosteroid 5β-reductase enzyme. Early disease diagnosis is critical for early treatment with bile acid replacement therapy, with an excellent chance for recovery. In contrast, protracted diagnosis and treatment may lead to poor outcomes, including decompensated hepatic cirrhosis, liver transplant, and even death. Read More

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Postaxial hypoplasia of the lower extremity associated with congenital dislocation of the patella: A case report.

Medicine (Baltimore) 2022 Jun 24;101(25):e29283. Epub 2022 Jun 24.

Health Science Division, Division of Plastic and Reconstructive Surgery, Unit of Hip and Pelvis Orthopedic Surgery, Hospital de Traumatología y Ortopedia No. 21, Instituto Mexicano del Seguro Social (IMSS), Monterrey, N.L., México.

Rationale: Evaluation of clinical and radiologic abnormalities in patients with postaxial hypoplasia of the lower extremity (PHLE) for treatment decisions represents a major challenge, which is more complicated when PHLE is associated with congenital dislocation of the patella.

Patient Concerns: : Herein, we present the case of an 8-year-old female patient with evident length inequality in her left lower extremity and inability to walk.

Diagnoses: Radiological evaluation revealed PHLE with fibular hemimelia, proximal femoral focal deficiency, tarsal coalition, and congenital patellar dislocation of the patella. Read More

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Fetal echocardiography is not only to detect congenital heart disease, but also to monitor, especially fetuses with different pathologies.

Kardiol Pol 2022 Jun 27. Epub 2022 Jun 27.

Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.

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Larger Than Larger: Huge Amounts of Recession-Resection Surgery for Third Nerve Palsy.

J Pediatr Ophthalmol Strabismus 2022 Jun 1:1-11. Epub 2022 Jun 1.

Purpose: To describe the characteristics and management outcomes of strabismus surgery in patients with third cranial nerve palsy and identify factors associated with long-term outcomes.

Methods: A 10-year retrospective study of patients with third cranial nerve palsy who underwent strabismus surgery was performed at Zhongshan Ophthalmic Center, Sun Yat-sen University, China, between August 2010 and January 2021. Clinical characteristics and factors associated with long-term outcomes were evaluated. Read More

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A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.

Mol Genet Genomic Med 2022 Jun 27:e2008. Epub 2022 Jun 27.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

Background: Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber-type disproportion (CFTD). CFTD is characterized by type 1 fiber atrophy and distinguished from NM in the absence of rods. Eight patients with CFTD, including one patient with dilated cardiomyopathy (DCM), have previously been reported. Read More

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Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia.

Birth Defects Res 2022 Jun 27. Epub 2022 Jun 27.

Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa.

Background: Congenital diaphragmatic hernia (CDH) occurs when abnormal diaphragm development allows herniation of abdominal organs into the thoracic cavity. Its etiopathogenesis is not well understood, but cigarette smoking and alcohol exposure may impact diaphragm development. Using data from a large, population-based case-control study, we examined associations between maternal cigarette smoking and alcohol consumption and CDH in offspring. Read More

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Neo-cusp Reconstruction Procedure for Aortic Regurgitation Induced by Transcatheter Occluder Device for Ventricular Septal Defect Closure.

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):495-498

Department of Pediatric Cardiac Surgery, 425959Fortis Pediatric and Congenital Heart Centre, Mulund, Mumbai, India.

Aortic regurgitation after transcatheter device closure of a perimembranous ventricular septal defect is a known complication. We present the case of an 11-year-old boy with severe aortic valve regurgitation due to cusp perforation complicating previous device closure of a ventricular septal defect. The patient underwent successful aortic valve repair (neo-cusp reconstruction technique) by replacement of a cusp and shaving off of a rim of the device 5 years after device closure. Read More

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Ten Years of Data Verification: The European Congenital Heart Surgeons Association Congenital Database Audits.

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):466-474

Department of Pediatric Cardiothoracic Surgery, 49702Children's Memorial Health Institute, Warsaw, Poland.

Background: Congenital heart surgery databases are tools for internal programmatic evaluation, benchmarking institutional results to multi-institutional aggregate data, and research. Therefore, it is essential to ensure the completeness and accuracy of data. This study analyzes the results of ten years of on-site source data verification of the European Congenital Heart Surgeons Association Congenital Heart Surgery Database (ECHSA CHSD). Read More

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Total Anomalous Pulmonary Venous Connection Repair: Single-Center Outcomes in a Lower-Middle Income Region.

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):458-465

Department of Pediatric Cardiology, 29286Amrita Institute of Medical Sciences and Research Centre, Kochi, India.

Background: The management of total anomalous pulmonary venous connection (TAPVC) in neonates and infants is resource-intensive. We describe early and follow-up outcomes after surgical repair of isolated TAPVC at a single institution in a resource-limited setting.

Methods: The data of 316 consecutive patients with isolated TAPVC undergoing repair (January 2010-September 2020) were reviewed. Read More

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Surgery for Anomalous Aortic Origin of a Coronary Artery (AAOCA) in Children and Adolescents: A Meta-Analysis.

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):485-494

Pediatric and Congenital Cardiac Surgery Unit, Padova, Veneto, Italy.

We conducted a systematic review and meta-analysis of the literature to assess the outcomes of surgery for the anomalous aortic origin of a coronary artery in children and young adults (<30 years). Thirteen publications were selected, including a total of 384 patients. Unroofing of the intramural segment was adopted in 92% (95% CI: 81%-98%) of cases, with pooled early and late mortality of 0% (95% CI: 0%-0. Read More

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Fontan Palliation in Patients with Heterotaxy Syndrome: A Five Decade Experience.

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):436-442

Division of Pediatric Cardiology, 6915Mayo Clinic, Rochester, MN, USA.

Background: Patients with heterotaxy syndromes (right and left atrial isomerism) are at high risk of poor outcomes after single-ventricle palliation. However, the long-term outcomes and specific parameters associated with poor outcomes are incompletely understood.

Methods: A retrospective review was performed of all patients with atrial isomerism who had a Fontan at our institution from 1973 to 2020. Read More

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Transitioning to an Attending Congenital Heart Surgeon: The Journey has Just Begun!

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):536-538

Department of Cardiovascular Surgery, 4352Mayo Clinic, Rochester, MN, USA.

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Isolated Anomalous Right Superior Pulmonary Venous Return to the Inferior Vena Cava.

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):508-509

Leon H Charney Division of Cardiology, Department of Medicine, NYU Grossman School of Medicine, New York, NY, USA.

Partial anomalous pulmonary venous connection is a rare congenital abnormality. We present images from an atypical case of isolated anomalous right superior pulmonary venous return to the inferior vena cava without other cardiac abnormalities. Read More

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An Editor's Perspective and an Opportunity to Say "Thank You".

World J Pediatr Congenit Heart Surg 2022 Jul;13(4):418-419

Department of Surgery, 1501Johns Hopkins School of Medicine, Blalock-Taussig-Thomas Pediatric and Congenital Heart Center, Johns Hopkins Children's Center, Baltimore, MD, USA.

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