Conservative management of complete fetal expulsion into the abdominal cavity after silent uterine rupture - case report.

Background: Clinically silent uterine rupture with complete fetal expulsion into the abdominal cavity is an extremely rare complication. Diagnosis can be difficult and the risk to the mother and fetus is high. Conservative management has been described only in a few cases of partial expulsion of the fetus so far.

Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings.

Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA sequencing to evaluate the sensitivity for copy number variants (CNV) detection using an in-house CNV fraction-based detection algorithm. The sensitivity for CNVs smaller than 3 megabases (Mb), larger than 3Mb, and overall was 78.

Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype.

Objective: Noonan syndrome (NS), one of the most common RASopathies, has an estimated incidence of 1 in 1,000-2,500 live births. In the prenatal period increased nuchal translucency, hygroma colli, hydrops fetus, congenital heart disease, kidney defects, larger amount of amniotic fluid can be observed in affected fetuses with this syndrome. In the fetuses with normal karyotype and no microdeletion/microduplication syndromes the examination of selected genes for RASopathies was added.

Intraoperative intraocular pressure fluctuation during standard phacoemulsification in real human patients.

Introduction: To evaluate the results of the fluctuations of intraocular pressure (IOP) and calculated mean ocular perfusion pressure (MOPP) during the usual steps of standard phacoemulsification.

Methods: Nine human eyes were evaluated. The IOP was measured indirectly by electronic applanation tonometer.

Struma ovarii - ultrasound features of a rare tumor mimicking ovarian cancer.

Aims: To describe the ultrasound features of benign struma ovarii that often mimic ovarian cancer in the background of complex clinical and histopathological pictures.

Material And Methods: We retrospectively identified patients with histologically confirmed benign struma ovarii, treated in our institution between 2003-2016 with complete imaging, clinical, nd histopathological data available. Ultrasound findings were drawn from images, and reports using terms and definitions of the International Ovarian Tumor Analysis group and pattern recognition description was applied.

[Pars Plicata Vitrectomy in Premature Newborns for Retinal Detachment as a Result of Retinopathy of Prematurity, our Results].

Introduction: The aim of this work is to evaluate our own results of surgical treatment of retinal detachment in immature newborns. Retinopathy of prematurity (ROP) is one of the most complicated ocular disorders, both in terms of diagnosis and therapy. It is a potentially blinding illness that arises from the incomplete development of the bloodstream of the neuroretina of preterm infants.

[Cesarean section incidence and vaginal birth success rate at term pregnancy after myomectomy].

Objective: To compare the incidence of primary and acute cesarean section (CS) and to compare success rate of vaginal delivery. To determine the frequency of maternal complications and evaluation of post-partum condition of the newborn.

Study Design: Prospective, pilot, cohort study.

Uterine Fibroid Morphology and Histology with Respect to Reproductive Age.

Objective: To evaluate histological uterine fibroid incidence among reproductive age women and to deter- mine correlations between fibroid histological type, patient age, and number and size offibroids.

Study Design: The study cohort consisted of 103 women desiring preg- nancy who underwent myo- mectomy for symptomatic uterine fibroids. The primary endpoints were histological type of fibroid, myomectomy incidence among 2 age groups (18-34 vs.

[Histological types of uterine fibroids in reproductive age and postmenopausal women].

Objective: To review the incidence of histologic variants of uterine fibroids of patients in reproductive age and postmenopause. Analysis of potential relations between histological fibroids variants and hormonal activity of the patient.

Design: Retrospective analysis.

Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.

Background: Classic symptoms of long QT syndrome (LQTS) include prolongation of QT interval on electrocardiograph, syncope, and cardiac arrest due to a distinctive form of polymorphic ventricular tachycardia, known as Torsade de Pointes. We assessed occurrence of LQTS signs in individuals from 30 Czech families with mutations in KCNQ1 and KCNH2 genes.

Methods And Results: One hundred five individuals from 30 Czech families with LQTS were genotyped for KCNQ1 and KCNH2.

Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia.

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare hereditary arrhythmia. The onset of clinical symptoms usually occurs during childhood, and is typically related to exercise. The aim of our study was to describe the clinical characteristics of seven Czech families with CPVT and the results of mutational analysis of the RyR2 gene in these families.

Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease.

Background: Observations from population-based studies demonstrated a strong genetic component of sudden cardiac death. The aim of this study was to test the hypothesis that ion channel genes mutations are more common in ventricular fibrillation (VF) survivors with coronary artery disease (CAD) compared to controls.

Methods: The entire coding sequence of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was analyzed in 45 (five females) CAD individuals-survivors of documented VF and in 90 matched healthy controls.

Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report.

Purpose: to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.

Methods And Results: the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred.

[Postoperative results of hydrophilic expandable intraocular lenses ACQUA (Mediphacos) implantation].

Purpose: To assess postoperative outcomes of implanted hydrophilic expandable intraocular lenses ACQUA.

Material And Methods: One hundred eyes of 75 patients with implanted intraocular lens (IOL) ACQUA were involved. IOLs were implanted during the period 2004 to 2005.

AquaLase versus NeoSoniX--a comparison study.

Aims: To compare the metrics and surgical outcome when using Infiniti AquaLase and NeoSoniX cataract removal modalities.

Methods: This prospective clinical study involved 50 patients with bilateral cataracts and lens removal using AquaLase in the right eye and NeoSoniX in the left eye. Best corrected visual acuity (BCVA), endothelial cell density and pachymetry were evaluted pre- and postoperatively.

Comparison of the effect of AquaLase and NeoSoniX phacoemulsification on the corneal endothelium.

Purpose: To compare the extent of corneal endothelial cell loss and pachymetry changes in 2 age-based groups of patients who had cataract removal by AquaLase (Alcon) phacoemulsification in 1 eye and NeoSoniX (Alcon) phacoemulsification in the contralateral eye.

Setting: Department of Ophthalmology, University Hospital, Hradec Králové, Czech Republic.

Methods: This prospective clinical study comprised 28 patients younger than 80 years (Group A) and 28 patients 80 years or older (Group B) with bilateral cataract having lens removal using AquaLase in the right eye and NeoSoniX in the left eye.

Comparison of posterior capsule opacification after two different surgical methods of cataract extraction.

Purpose: To compare the extent of posterior capsule opacification (PCO) after AquaLase and NeoSoniX phacoemulsification methods using two types of software for PCO quantification.

Design: Prospective, randomized clinical trial.

Methods: At the Department of Ophthalmology, University Hospital in Hradec Králové, 50 patients (100 eyes) were analyzed one year after surgery.

Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome.

The long QT syndrome (LQTS) is a monogenic disorder characterized by prolongation of the QT interval on electrocardiogram and syncope or sudden death caused by polymorphic ventricular tachycardia (torsades de pointes). In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) have been identified as a cause for LQTS. About 50-60 % of LQTS patients have an identifiable LQTS causing mutation in one of mentioned genes.

p73 expression in medulloblastoma: TAp73/DeltaNp73 transcript detection and possible association of p73alpha/DeltaNp73 immunoreactivity with survival.

The human p73 protein is essential for normal morphogenesis and maintenance of neural tissue. Recently, several TP73 transcripts have been revealed in medulloblastoma (MB), the most common malignant brain tumor in children. Here, we performed immunohistochemical analysis on 29 MB specimens using anti-p73alpha and anti-DeltaNp73 antibodies.

[Comparison of posterior capsule opacification in 2 types of implanted artificial intraocular lens].

Purpose: To compare posterior capsule opacification (PCO) incidence and the best corrected visual acuity (BCVA) in patients who had the soft intraocular lens (IOL) made of hydrophobic acrylic material (AcrySof MA30BA, MA60BM) implanted in their one eye and IOL made of silicone material (Allergan SI-30NB) implanted in their second eye. All patients included in this study were operated on at Department of Ophthalmology, University Hospital, Hradec Králové, Czech Republic during the period from 1999 to 2002.

Methods: Twenty-four patients (8 males, 21 females) were included in this study; they were 3 to 6 years after surgery (median 5 years).

The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.

In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation.

[Extension of QT interval as a consequence of risk factor accumulation--case study].

Background: Many non-cardiovascular drugs have a potential for QT interval prolongation. This phenomenon can be related to occurence of ventricular tachycardia torsades de pointes, syncopi and even sudden death.

Description Of The Case: A female patient treated with antracycline cytostatics developed a depression of left ventricle ejection fraction.

[Vernal keratoconjunctivitis and possibilities its treatment].

The authors present a case of vernal keratoconjunctivitis (VKC) in 5 years old boy. Despite intensive topical pharmacological therapy (mast-cell stabilizers, antihistamines, steroids in acute exacerbations) unsatisfied reduction of the symptoms was observed and cornea became involved in the left eye (LE). Repeated surgical abrasion of the papillary hypertrophy was performed with temporaly relief.