Search results for "congenital"

Pulmonary Agenesis and Associated Pulmonary Hypertension: A Case Report and Review on Variability, Therapy, and Outcome

2015

Abstract Pulmonary agenesis is a rare congenital disorder with large variability in presentation and prognosis. We describe a full-term infant born with right-sided pulmonary agenesis who underwent thoracoscopic placement of a tissue expander. He ultimately died of pulmonary hypertension. Immunohistology showed intimal hyperplasia without the loss of endothelial caveolin-1 expression. A literature review revealed that while some of these patients have favorable outcome, many succumb despite therapy.

Optical Coherence Tomography Characterization of Macular Changes Secondary to Arteriovenous Fistula

2017

Arteriovenous fistulas (AVFs) are abnormal shunts between the arterial and venous vascular systems. These usually produce ocular pain, increased intraocular pressure (IOP), and diplopia. Less frequently, they may cause retinal changes with visual impairment. Our purpose is to illustrate different retinal manifestations of AVF. We report the multimodal imaging study of three cases with retinal changes due to AVF, showing neurosensory retinal detachment, macular oedema, and macular ischemia. In conclusion, AVF may appear with different ophthalmic alterations. While usually increased IOP and diplopia are our main concerns, retinal study is mandatory, since a myriad of morphologic abnormalities…

Need to evaluate the performance of real-time PCR assays for the quantitation of cytomegalovirus DNA load in lower respiratory tract specimens

2013

There is an increasing appreciation for the potential clinical value of the quantitation of cytomegalovirus (CMV) DNA in the lower respiratory tract in critically ill patients lacking canonical immunosuppression, in view of the possible pathogenic role of CMV in these patients [1]. No data have been published on the analytical performance of real-time PCR assays for this purpose. We present our data on the performance of the COBAS® AmpliPrep/COBAS® TaqMan CMV PCR Assay (Roche Diagnostics, Mannheim, Germany) for the quantitation of CMV DNA in tracheal aspirates (TA). This CMV PCR assay has been approved recently by the US Food and Drug Administration for use with plasma specimens [2]. We cho…

An unusual otomicroscopy diagnosis.

2003

Transcatheter Vs. Surgical Closure of Atrial Septal Defects in Adults

2018

Abstract Percutaneous transcatheter device closure of secundum atrial septal defects (ASD) has now largely replaced surgical closure in most centres. The aim of this study was to compare results of transcatheter and surgical ASD closure in adults in Latvia during the years 2002–2014 and to analyse long-term outcomes of transcatheter closure. We analysed data from 334 patients with secundum ASD who underwent ASD closure in Pauls Stradiņš Clinical University Hospital. Patients were included into device or surgical closure groups. In the device group, three follow-ups were made 1, 6, and 12 months after the procedure. No follow-up data were available for surgical arm patients beyond their hosp…

Tetralogy of Fallot as a Model to Study Cardiac Progenitor Cell Migration and Differentiation During Heart Development

2009

Tetralogy of Fallot (ToF) has long been considered a congenital disorder that occurs due to environmental alterations during gestation. Recently, several mutated genes have been discovered that are thought to be responsible for the malformations observed in ToF. These genetic mutations, which are microdeletions, are sporadic and are frequently also present in trisomy 21 patients. The ToF malformations can be lethal, but for the last 50 years, surgical repairs that place an artificial patch to repair the four features of ToF have improved the survival of patients with ToF. However, 0.5% to 6% of patients who survive after surgical repair of ToF die of sudden cardiac death caused by ventricul…

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome

2004

We observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven children from both families presented with a similar course of renal disease starting with nephrotic syndrome and renal failure prenatally or immediately after birth that resulted in death before the age of 2 months. Kidney histopathology showed diffuse mesangial sclerosis (DMS). Clinically obvious eye abnormalities were recognized in six of the eight patients in whom sufficient clinical data were available. Ocular anomalies included enlarged or large appearing corneae in some cases suggesting buphthalmos, and extremely narrow, nonreactive pupils (microcoria). Pa…

Does Oxygen Content Play a Role in Spontaneous Closure of Perimembranous Ventricular Septal Defects?

2021

(1) Background: the impact of a series of laboratory parameters (haemoglobin, haematocrit, foetal haemoglobin, peripheral oxygen saturation, iron, transferrin, ferritin, and albumin) on perimembranous ventricular septal defects spontaneous healing was tested. (2) Methods: one hundred and seven patients were enrolled in the study (57% males; mean age 2.1 ± 0.4 years) and were subsequently subdivided into two groups: self-healing (n = 36) and in need of intervention (n = 71). Self-healing subjects were defined on the basis of an absence of residual shunts at colorDoppler across the previous defect. (3) Results: no statistically significant differences were reported in the size of perimembrano…

Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: Implications for management

2006

We report a twin pregnancy complicated by fetal goitrous hypothyroidism secondary to dyshormonogenesis caused by thyroglobulin deficiency. Antenatal treatment with intra-amniotic thyroxine was considered but not performed, given the late gestational age at diagnosis and the multiple nature of the pregnancy. Both twins developed airway obstruction at delivery, requiring intubation and ventilation. We review the literature and describe the practical issues relating to the antenatal assessment and perinatal management of fetal goitre.

A Novel Technique of Posterolateral Suturing in Thoracoscopic Diaphragmatic Hernia Repair

2017

Background Closure of the posterolateral defect in some cases of congenital diaphragmatic hernia (CDH) can be difficult. Percutaneous transcostal suturing is often helpful to create a complete, watertight closure of the diaphragm. A challenge with the technique is passing the needle out the same tract that it entered so that no skin is caught when the knots are laid down into the subcutaneous tissue. This report describes a novel technique using a Tuohy needle to percutaneously suture the posterolateral defect during thoracoscopic repair of CDH. Case We report a case of a 6-week-old infant who presented with a CDH and ipsilateral intrathoracic kidney that was repaired using thoracoscopic a…