Project description:UnlabelledCongenital fibrous fusion of the jaws (synechiae) without any concomitant oral anomalies is a very rare malformation. Less than 40 cases have been documented in the literature. Early division of fibrous bands not only allows effective feeding but also prevents development of facial deformity. Here we present a case of congenital maxillomandibular fusion in a neonate.Electronic supplementary materialThe online version of this article (doi:10.1007/s12663-010-0110-z) contains supplementary material, which is available to authorized users.
Project description:Congenital heart block (CHB) is a rare but life-threatening disorder. More than half of CHB cases are associated with maternal autoimmune, which are termed as autoimmune-associated CHB. This review summarized the recent research findings in understanding autoimmune-associated CHB, discussed the current diagnostic approaches and management strategies, and summarized the problems and future directions for this disorder.We retrieved the articles published in English from the PubMed database up to January 2017, using the keywords including "Autoimmune-associated", "Autoimmune-mediated", and "Congenital heart block".Articles about autoimmune-associated CHB were obtained and reviewed.Observational studies consistently reported that transplacental maternal antibodies might recognize fetal or neonatal antigens in various tissues and result in immunological damages, but the molecular mechanisms underlying CHB pathogenesis still need illuminated. Multiple factors were involved in the process of atrioventricular block development and progression. While several susceptibility genes had been successfully defined, how these genes and their protein interact and impact each other remains to be explored. With currently available diagnostic tools, fetal ultrasound cardiography, and fetal magnetocardiography, most of CHB could be successfully diagnosed and comprehensively evaluated prenatally. The efficacy of current approaches for preventing the progression and recurrence of CHB and other autoimmune-mediated damages was still controversial.This review highlighted the relationships between autoimmune injuries and CHB and strengthened the importance of perinatal management and therapy for autoimmune-associated CHB.
Project description:Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life.Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the quality of life (WHOQoL -BREF).Seventy three patients were included in the study, among them 59/73 (81%) were transferred to adult endocrinologist by their pediatricians for transition. WHOQoL -BREF scores were similar between patients with or without transition to specialist adult services, except for environment dimension score, which was slightly higher in CAH patients without transition. However, CAH patients with a regular follow-up had a better physical health, psychological health and environment score and item global quality of life than the group without regular follow-up after transition.Regular medical follow-up in adulthood is associated with the transition between pediatric and adult care and with better QoL in adults with CAH.
Project description:A 28-week-old fetus was detected to have a single left atrial mass in prenatal ultrasound. Postnatal echocardiography showed an aneurysm between the anterior mitral leaflet and aortic valve, to the left of atrioventricular junction and communicating with the left ventricle through a narrow mouth. It probably originated from the mitral-aortic intervalvular fibrous tissue and an inherent weakness at this site might be the cause. Reported cases of pseudoaneurysm of mitral-aortic intervalvular fibrosa and subvalvular ventricular aneurysms seen following infective endocarditis, surgery, or trauma seem to have a similar anatomical background. This case explains the possibility of congenital aneurysm in this location which needs to be considered a differential diagnosis in similar cases.
Project description:Tendinopathies are painful, disabling conditions that afflict 25% of the adult human population. Filling an unmet need for realistic large-animal models, we here present an ovine model of tendon injury for the comparative study of adult scarring repair and fetal regeneration. Complete regeneration of the fetal tendon within 28 days is demonstrated, while adult tendon defects remained macroscopically and histologically evident five months post-injury. In addition to a comprehensive histological assessment, proteome analyses of secretomes were performed. Confirming histological data, a specific and pronounced inflammation accompanied by activation of neutrophils in adult tendon defects was observed, corroborated by the significant up-regulation of pro-inflammatory factors, neutrophil attracting chemokines, the release of potentially tissue-damaging antimicrobial and extracellular matrix-degrading enzymes, and a response to oxidative stress. In contrast, secreted proteins of injured fetal tendons included proteins initiating the resolution of inflammation or promoting functional extracellular matrix production. These results demonstrate the power and relevance of our novel ovine fetal tendon regeneration model, which thus promises to accelerate research in the field. First insights from the model already support our molecular understanding of successful fetal tendon healing processes and may guide improved therapeutic strategies.
Project description:We describe a case of polymicrobial bacterial pericarditis with Klebsiella pneumoniae and Proteus mirabilis, caused by pericardial penetration of the tip of the catheter of a laparoscopic adjustable gastric band (LAGB). The patient developed a cardiac tamponade, and subsequently emergency pericardiocentesis was performed. Analysis of earlier CT scans showed that the tip of the catheter had migrated through the liver and through the diaphragm into the pericardium, and was in contact with the myocardium. After stabilisation he was operated to remove the LAGB. In this case report, we describe the chain of events that led to the polymicrobial pericarditis-a complication of LAGB placement that to our knowledge has thus far never been reported. We furthermore present a detailed literature review of all published cases of polymicrobial pericarditis and its causes.
Project description:Congenital abnormalities of the kidney and urinary tract (CAKUT) represent 20% of prenatally diagnosed congenital abnormalities. Although the majority of these abnormalities do not require intervention either pre or postnatally, there is a subset of patients whose disease is so severe that it may warrant intervention prior to delivery to prevent morbidity and mortality. These cases consist of patients with moderate lower urinary tract obstruction (LUTO) in which vesicocentesis, shunting or cystoscopy are options and patients with early pregnancy renal anhydramnios (EPRA) in whom amnioinfusion therapy may be an option. The main causes of EPRA are congenital bilateral renal agenesis (CoBRA), cystic kidney disease (CKD) and severe LUTO. Untreated, EPRA is universally fatal secondary to anhydramnios induced pulmonary hypoplasia. The evidence regarding therapy for LUTO is limited and the stopped early PLUTO (Percutaneous Shunting in Lower Urinary Tract Obstruction) trial was unable to provide definitive answers about patient selection. Evidence for EPRA therapy is also scant. Serial amnioinfusions have shown promise in cases of EPRA due to CoBRA or renal failure and this treatment modality forms the basis of the ongoing NIH funded RAFT (Renal Anhydramnios Fetal Therapy) trial. At present, there is consensus that treatment for EPRA should only occur in the setting of a clinical trial.
Project description:A very large fetal pericardial teratoma was diagnosed at 28 weeks' gestation, prompting urgent multidisciplinary expert consultations to weigh the risks and benefits of various prenatal invasive procedures and preterm delivery for postnatal surgical management. Ultimately, the infant was born by planned cesarean section and underwent immediate cardiopulmonary bypass and surgical resection.
Project description:Neurodevelopmental impairments are the most common extracardiac morbidities among patients with complex congenital heart disease (CHD) across the lifespan. Robust clinical research in this area has revealed several cardiac, medical, and social factors that can contribute to neurodevelopmental outcome in the context of CHD. Studies using brain magnetic resonance imaging (MRI) have been instrumental in identifying quantitative and qualitative difference in brain structure and maturation in this patient population. Full-term newborns with complex CHD are known to have abnormal microstructural and metabolic brain development with patterns similar to those seen in premature infants at approximately 34 to 36 weeks' gestation. With the advent of fetal brain MRI, these brain abnormalities are now documented as they begin in utero, as early as the third trimester. Importantly, disturbed brain development in utero is now known to be independently associated with neurodevelopmental outcome in early childhood, making the prenatal period an important timeframe for potential interventions. Advances in fetal brain MRI provide a robust imaging tool to use in future neuroprotective clinical trials. The causes of abnormal fetal brain development are multifactorial and include cardiovascular physiology, genetic abnormalities, placental impairment, and other environmental and social factors. This review provides an overview of current knowledge of brain development in the context of CHD, common prenatal imaging tools to evaluate the developing fetal brain in CHD, and known risk factors contributing to brain immaturity.
Project description:When detected early, uterine cervical cancer is one of the most successfully treatable forms of cancer. The diagnostic accuracy of the standard method, the Pap smear test followed by colposcopy, remains unsatisfactory. To improve detection of early-stage cervical cancer, new diagnostic tools for uterine cervical intraepithelial neoplasm (CIN) need to be developed. Magnifying endoscopy with narrow- band imaging (ME-NBI), which allows the visualization of the micro-structure as well as micro-vascularity of the mucosal surface, has excellent diagnostic ability for early gastrointestinal neoplasms. In our previous investigation, ME-NBI was efficacious for diagnosis of CIN. We herein report two notable cases of CIN3 that were diagnosed by ME-NBI that were not detected by colposcopy. These cases illustrate the usefulness of ME-NBI for diagnosis of early-stage uterine cervical neoplasms.