Ollier disease is a rare disorder characterised by the development of multiple enchondromas in long bones. Here we present a 19-year-old man with Ollier disease who also developed three synchronous brain tumours. Craniotomy, biopsy and debulking was performed for one lesion followed by a period of observation, and 9months later ...

Objective. To give an overview of the recommendations for the use of anti-TNF-α therapy in AS in 23 countries worldwideMethods. The recommendations were collected, translated and a summary was checked by Assessment of SpondyloArthritis International Society (ASAS) members from the respective countries. The recommendations were compared with the ASAS recommendations ...

Crohn's disease is a chronic inflammatory disorder that follows a progressive and destructive course. Ultimately, uncontrolled inflammation leads to bowel damage from disease-related complications such as strictures, fistulas and abscesses and surgical resection. Conventional 'step-care', whereby corticosteroids and immunosuppressives are prescribed sequentially, is an incremental approach to treatment that does ...

Kawasaki disease constitutes an acute febrile vasculitis of unknown aetiology. It is considered the most common cause of acquired cardiac failure in children. Although standard treatment comprises intravenous immunoglobulin and aspirin, some children exhibit refractory disease, necessitating the use of alternative therapies such as corticosteroids and anti-tumour necrosis factor-alpha. For ...

Nanomedicines have enormous potential to improve the precision of cancer therapy, yet our ability to efficiently home these materials to regions of disease in vivo remains very limited. Inspired by the ability of communication to improve targeting in biological systems, such as inflammatory-cell recruitment to sites of disease, we construct ...

Reversible dementias are rare and account for approximately 1.5% of all dementias. The most frequent etiology is represented by neurosurgical causes such as benign tumours, adult chronic hydrocephalus (so-called « normal pressure » hydrocephalus) or subdural hematoma, which are easily revealed by neuroimaging. Systematic ancillary investigations aimed at detecting an infectious disease (syphilis, ...

Crohn's disease and ulcerative colitis are chronic inflammatory gastrointestinal disorders which often result in significant morbidity or surgery. Current treatment options are not curative and may cause significant adverse effects. The introduction of anti-tumour necrosis factor alpha (anti-TNFα) therapy over a decade ago was a welcome addition to the therapeutic ...

Case of an 18-month-old child with congenital lymphedema subsequently diagnosed with tuberous sclerosis and Hirschsprung disease.

The prevalence of chronic kidney disease (CKD) at stage 3-5 is estimated at 8.5% in the UK, but the recorded rate of CKD from Quality and Outcomes Framework (QOF) registers in 2007-2008 was 2.9%. This study aimed to identify practice or patient characteristics associated with recorded rates of CKD. Demographic ...

Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, ...

Acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) can be a significant source of morbidity for pediatric cardiac patients in the intensive care unit. Children with unrepaired or palliated congenital heart disease are at increased risk for lower respiratory tract infections, while postoperatively they are at risk for ...

Background: Congenital candidiasis is rare occurring in most cases in premature and low birth weight new born. It can produce a spectrum of disease ranging from a diffuse skin eruption to a severe systemic disease with or without skin involvement. Amphotericin B is the first-line agent for the treatment of ...

Training for structural and adult congenital heart disease interventions remains undeveloped. With the advent of recent percutaneous interventions for the treatment of structural and valvular heart disease, such as transcatheter aortic and pulmonary valve implantation, mitral valve repair, and the expansion of shunt closure procedures, there is a clear need ...

In congenital cyanotic heart disease, oxygenated and deoxygenated blood mixes, and oxygen saturation of the arterial blood is not maintained. As a result, an ischemic environment prevails in the entire body. While various ocular findings have been described in patients with cyanotic heart disease, proliferative retinopathy has not been previously ...

This report describes a rare case of left pulmonary agenesis associated with congenital diaphragmatic hernia and congenital heart disease in a 2-year-old child with pulmonary hypertension. We performed direct radical correction of the congenital heart defect. The postoperative course was challenging but without major complications.

Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of rare hereditary disorders of erythropoiesis characterized by morphologic abnormal erythroblasts in the bone marrow. Three types of the disease are known as type I, II and III, and the variant type of CDA and several minor subgroups of CDA have been ...

Training for structural and adult congenital heart disease interventions remains undeveloped. With the advent of recent percutaneous interventions for the treatment of structural and valvular heart disease, such as transcatheter aortic and pulmonary valve implantation, mitral valve repair, and the expansion of shunt closure procedures, there is a clear need ...

Congenital heart block is the most severe manifestation of neonatal lupus syndrome. It is a passively acquired disease where transplacental passage of maternal autoantibodies is associated with irreversible damage of the foetal cardiac conduction system. It is well established that the condition, in the absence of structural abnormalities, is strongly ...

Brain and heart development occurs simultaneously in the fetus with congenital heart disease. Early morphogenetic programs in each organ share common genetic pathways. Brain development occurs across a more protracted time-course with striking brain growth and activity-dependent formation and refinement of connections in the third trimester. This development is associated ...

A multidisciplinary approach to congenital heart diseases in adults is a primary element for modern medicine. The diagnosis of a sinus venosus atrial septal defect is a typical example of disease that requires the different skills of the cardiologist, cardiac surgeon and radiologist.

The prevalence of congenital heart disease among adults in Europe, or in any country in Europe, is not known. This is due to a lack of agreement on the incidence of congenital heart disease, with estimations varying from four per 1000 births to 50 per 1000 births, and it is ...

The incidence of congenital heart disease is approximately 8/1,000 live births and appears to be constant around the world. The currently accepted paradigm for the development of pulmonary vascular disease associated with congenital heart disease maintains that increased pulmonary blood flow and pressure trigger unfavorable vascular remodeling. Endothelial cell dysfunction, ...

Low birth weight has been identified as a risk factor for chronic kidney disease (CKD). We analysed perinatal parameters taken from the National Birth Certificates of 435 children with CKD stages 3-5 of different aetiology and time of onset of CKD. Diseases were classified as congenital with onset of renal ...

Congenital heart disease is one of the most important chapters in medicine because its incidence is increasing and nowadays it is close to 1.2%. Most congenital heart disorders are the result of defects during embryogenesis, which implies that they are due to alterations in genes involved in cardiac development. This ...

OBJECTIVES: The purpose of this study was to determine the incidence of missed congenital heart disease in neonates in the state of Wisconsin leading to death or readmission during the first 2 weeks of life. DESIGN: Wisconsin hospitalization and death records were reviewed from 2002 to 2006. Only those neonates ...

As medical management and surgical techniques continue to improve, patients with congenital heart disease are surviving further into adulthood and seeking to participate in multiple activities. Given the increasing popularity of adventure recreation, it is likely that many of these individuals will express interest in travel to and activities at ...

In patients with cyanotic congenital heart disease, chronic hypoxaemia leads to important changes in blood vessel function and structure. Some of these alterations are maladaptive and probably contribute to impaired cardiopulmonary performance and an increased incidence of thrombotic and embolic events. Recent evidence suggests that deranged endothelial function, a sequel ...

The evaluation of congenitally malformed hearts that have been subjected to operative and nonoperative interventions includes not only a categorization of the underlying anomalies and various procedures but also an assessment of interventional complications, postprocedural changes in chamber, valvular, and vascular sizes, presence of ischemia or fibrosis, presence of cardiac ...

Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disease. In the described patient diagnostic relevant symptoms developed at 3 week age.

With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure and their cardiac disease ...

Primary congenital glaucoma is an uncommon pediatric ocular disease contributing to a disproportionately high percentage of childhood blindness worldwide. This case report describes bilateral primary congenital glaucoma in monozygotic twins who first presented to an ophthalmologist in Ethiopia at 6 years of age. Both had severe, protracted disease, with only ...

Remarkable advances in surgical and clinical management have resulted in survival to adulthood in the large majority of patients with congenital heart malformations, even with the most complex disease. Over 1 million adults with congenital heart disease currently live in the USA, approximately half of whom are women of childbearing ...

With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the ...

With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure, and their cardiac disease ...

BACKGROUND: Echocardiography is one of the most important diagnostic tools in cardiology. The two most widespread modes of echocardiography are transthoracic (TTE) and transoesophageal (TEE) echocardiography, both requiring extensive training. In TEE the manual skills seem to be less important, but it is more challenging for the trainee to imagine ...

The number of adult congenital heart disease (ACHD) patients will be larger in the medium to long term than that of children and adolescents with congenital heart disease. The present structures for the medical care of ACHD patients are not sufficient and need to be improved. Therefore the Task Force ...

During the last 10 years the interventional treatment of congenital and structural heart diseases has known enormous changes in techniques, methods and patients management. Lesions previously treated surgically are now approached in the catheterization laboratory. The advent of multidisciplinary approach of congenital heart disease has made possible the development of ...

This review summarizes the current data regarding the relationship between nuchal translucency and congenital heart disease.

Considerable improvements have been made in care and provision for patients with congenital heart disease in the United Kingdom. However, delayed presentation of adult patients with sequelae of known childhood cardiac defects reflects the current situation that there is no national registry of patients with congenital heart disease, and this ...

Brain and heart development occur simultaneously in the human fetus. Given the depth and complexity of these shared morphogenetic programs, it is perhaps not surprising that disruption of organogenesis in one organ will impact the development of the other. Newborns with congenital heart disease show a high frequency of acquired ...

The remarkable improvement in pediatric cardiosurgery observed over the last few decades has meant that many patients with congenital heart diseases have entered adult life. The growing population of adults with congenital heart defects (ACHD) requires specialized treatment. The team of specialists should consist of cardiologists experienced in congenital heart ...

Congenital heart disease (CHD) is the most common type of birth defect. Despite the many advances in the understanding of cardiac development and the identification of many genes related to cardiac development, the fundamental etiology for the majority of cases of congenital heart disease remains unknown. This review summarizes normal ...

Tremendous advances have occurred in catheter-based interventions for congenital heart disease. Multicenter trials of these advances are either out of date or have been limited in scope. As such little is known on the application of these techniques in the current era. The IMPACT Registry (IMproving Pediatric and Adult Congenital ...

Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an ...

The question posed in the title of this article is: "Congenital Heart Surgery Databases Around the World: Do We Need a Global Database?" The answer to this question is "Yes and No"! Yes--we need to create a global database to track the outcomes of patients with pediatric and congenital heart ...

We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative. This ...

OBJECTIVE: The type of congenital heart disease, early diagnosis, and treatment modality all play an important role in the morbidity and mortality of these diseases. This study examined the relationship between congenital heart disease and oxidative stress in children with cyanotic and acyanotic congenital heart disease. METHODS: In this case-controlled ...

A retrospective analysis of case-records data of 53,653 patients (0-18 years) over a two and half year period was conducted to ascertain the spectrum of congenital heart diseases. Two hundred and twenty one patients were found having congenital heart diseases; a prevalence of 4.1/1000. Ventricular septal defect (VSD) was the ...

The right ventricle (RV) is of lesser importance in acquired heart disease, but its role is of increasing importance in congenital heart disease. It may function as a subpulmonary ventricle or as a subaortic (systemic) ventricle in transposition complexes. The RV has a remarkable ability to adapt to pressure and ...

INTRODUCTION: The purpose of this report is to describe retinal findings in adults with cyanotic congenital heart disease. METHODS: Four patients, 27 to 47 years of age, with cyanotic congenital heart disease were enrolled from the Outpatient Clinic of the Ahmanson/UCLA Adult Congenital Heart Disease Center. Each patient had a ...