Combination Of Defects Research Articles

Reasonability and efficacy of decompressive craniectomy in patients with subarachnoid hemorrhage after microsurgical aneurysm exclusion

The study purpose was to define the CT criteria for reasonability and efficacy of DC as well as clarification of the indications for preventive DC in patients with SAH after microsurgical aneurysm exclusion. The study included 46 patients who underwent microsurgical clipping of aneurysms and DC in the period between 2010 and 2016. All patients underwent surgery in the period of 1 to 12 days after SAH. Preventive DC (imultaneously with clipping of aneurysms) was performed in 38 patients. Secondary (delayed) DC was performed in 8 patients. Mortality in a group of all patients with DC was 15.2%. Preventive DC was considered as 'reasonable' when the patient had signs of cerebral edema in the postoperative period. The X-ray criteria of reasonable DC included a more than 5 mm brain prolapse into the trephination defect or a lateral dislocation of more than 5 mm. If the patient had no prolapse and dislocation in the postoperative period, DC was considered 'unreasonable'. Among patients with ICH in the postoperative period, including 20 patients with reasonable preventive DC and 8 patients with delayed DC, mortality was 25%. The CT signs of efficient DC were found to be a more than 5 mm brain prolapse into the trephination defect in combination with a decrease in the lateral dislocation less than 5 mm. All seven patients with inefficient DC in our group died. To clarify the indications for preventive DC, we analyzed various preoperative factors in patients with reasonable and unreasonable DC. In most cases, preventive DC in microsurgical aneurysm exclusion is indicated for patients in an extremely grave condition (Hunt-Hess Grade V), a lateral displacement of the mline structures of more than 5 mm, an intracranial hematoma of over 30 mL, and symptoms of acute cerebral ischemia (pronounced cerebral vasospasm and emerging ischemic foci).

A randomized controlled clinical trial evaluating the efficacy of zoledronate gel as a local drug delivery system in the treatment of chronic periodontitis: A clinical and radiological correlation.

Background:This study aimed to evaluate the efficacy of local drug delivery system of zoledronate (ZLN) gel as an adjunct to scaling and root planing (SRP) for the treatment of human periodontal intrabony defects clinically and radiographically.Materials and Methods:Forty intrabony defects (three walled and combined defects without involving furcation) in moderate to severely affected forty chronic periodontitis patients (range, 30–50 years) were randomly divided into two groups and treated either with 0.05% ZLN gel (ZLN n = 20; 1 dropout) or placebo gel (control group [CG] n = 20) after SRP. Clinical parameters such as plaque index (PI), gingival index (GI), tooth-specific pocket probing depth (Ts PPD), and clinical attachment levels (TsCAL) were assessed at baseline and at 3 and 6 months using occlusal acrylic stent. Radiographic parameters were assessed at baseline and 6 months, utilizing “ONIS 2.5 PROFESSIONAL” and “SYNGO” software compatible with DentaScan to measure the volumetric bone changes in intrabony defects.Results:In intragroup comparisons, both groups showed significant PI and GI reduction (P < 0.001) after treatment at 3 and 6 months. In intergroup comparisons, Ts PPD reduction and Ts CAL gain were significant only in ZLN at 6 months from both baseline and 3 months. Radiographically, significant reduction in defect depth and buccolingual width with volumetric defect gain of 40.24% ± 7.44% in ZLN compared to insignificant gain of 1.60% ± 4.06% in CG was observed at 6 months.Conclusion:ZLN gel applied subgingivally in intrabony defects resulted in significant improvements both clinically and radiographically.

The use of Enamel Matrix Derivative (Emd) for Treatment of Combined Apicomarginal Lesions in Apical Surgery: A Retrospective Analysis.

Objective:The outcome of apical surgery using modern techniques is favourable. However, the presence of a combined apicomarginal defect may negatively affect the postsurgical healing. The objective of this retrospective analysis was to assess the healing of teeth with apicomarginal defects treated with apical surgery and enamel matrix derivative (EMD).Methods:This retrospective study evaluated the application of EMD in apical surgery of 17 teeth with apicomarginal defects. Cases were followed for at least 1 year, and healing was classified based on established clinical and radiographic criteria.Results:The patient sample included nine females and eight males with a mean age of 50±18.2 years. Maxillary incisors (six lateral and four central) were the most frequently treated teeth. The majority of apicomarginal defects was located on the facial aspect of the root (70.6%) and belonged to defect class I (76.5%). Follow-up periods ranged from 1 to 5 years. Healing was successful in 14 teeth (82.4%).Conclusion:The application of EMD resulted in a similar outcome as in previously published clinical studies related to regenerative techniques for the treatment of apicomarginal defects in conjunction with apical surgery.

Reconstrucción nasal con colgajos locales: Manejo según unidades estéticas.

Introducción: Las lesiones neoplásicas de la nariz necesitan una resolución con resultado estético satisfactorio. El objetivo del presente estudio es realizar una descripción del lugar en donde se ubicaron las lesiones y los tipos de colgajos más utilizados. Métodos: El presente estudio descriptivo fue realizado en pacientes intervenidos en el 2013 por reconstrucción nasal secundaria exéresis tumoral en Solca-Guayaquil. Se describe la localización de la lesión y la técnica. La muestra fue incidental. Para la descripción se dividió la nariz en 3 zonas: proximal (Z1), media (Z2) y distal (Z3). Las lesiones con &gt;1 zona fueron “defectos complejos”. Las Z1 y Z2 fueron divididas en subunidades (SU) central y lateral. La Z3 fue dividida en SU: alar, domo-alar, de domo, central, columelar y de base nasal. Los defectos con &gt;1 SU fueron combinados. Resultados: Ingresaron al estudio 96 casos, 60 mujeres. 14 defectos (14.6 %) en Z1, 16 defectos (16.7%) en Z2, 50 casos (52 %) en Z3 y 16 defectos complejos (16.7 %). El colgajo frontal (CF) 21 casos (21.88 %), el colgajo avance V-Y (AV-Y) 19 casos (19.79 %) y el colgajo nasolabial (CNL) 15 casos (15.63 %). En Z1, la SU- central se utilizaron los colgajos glabelar (CG), AV-Y y colgajo en Mitra (CM); en la SU- lateral se utilizaron el CG y AV-Y con más frecuencia. En la Z2, la SU- central se utilizaron los CM y el cierre directo (CD); en la SU- lateral se utilizaron el CD, CM, AV-Y y CNL. En la Z3 se utilizaron CNL, AV-Y y colgajos bilobulados. El colgajo frontal fue usado en los defectos complejos y combinados. Conclusión: La SU-Alar y la SU del Surco Domal Alar de la Z3, fueron las áreas más prevalentes. Las técnicas quirúrgicas más utilizadas fueron, el colgajo frontal, el AV-Y y el CNL.

Characteristics and fertility of domestic cat epididymal spermatozoa cryopreserved with two different freezing media

The study represents a comparison of cryopreservation of domestic cat epididymal spermatozoa with two commercially available freezing media: CaniPlus Freeze (CPF) and SpermFreeze (SF). The viability of nonfrozen spermatozoa evaluated by the VitalScreen test was 68.7 ± 3.0%. These figures were lower for the frozen-thawed spermatozoa: 51.2 ± 6.3% for CPF group and 54.4 ± 3.1% for SF group. The motility of nonfrozen spermatozoa was 57.2 ± 4.5%. These figures were reduced in both frozen-thawed groups; however, there was no significant difference in these parameters between CPF (30.8 ± 7.1%) and SF (27.4 ± 8.1%) groups. The percentage of nonprogressively moving motile spermatozoa after freezing-thawing was decreased in both frozen-thawed groups (23.5 ± 5.9 and 12.0 ± 2.4 for CPF and SF frozen correspondingly) as compared with nonfrozen controls (42.1 ± 4.1%). Morphology of spermatozoa was assessed by light microscopy. The mean percentages of normal spermatozoa were 28.5 ± 4.1% for nonfrozen group, 26.0 ± 2.3% for CPF frozen group, and 23.9 ± 1.9% for SF frozen group. The most frequent anomalies in all the three groups were flagella and combined defects. In vitro fertilization (IVF) of domestic cat oocytes with nonfrozen and frozen-thawed spermatozoa produced developing embryos. The percentage of in-vitro-derived embryos was 43.6% after using nonfrozen spermatozoa. Frozen-thawed spermatozoa developed at a similar rate (44.0%) after using SF. However, the rate of embryo development was lower (20.1%) when CPF was used. The in-vitro-derived embryos in the nonfrozen group consisted of 46.9 ± 2.5 cells after 5-day culturing. After cryopreservation with SF and CPF the cell numbers per embryo were 39.9 ± 2.7 and 31.8 ± 3.4 correspondingly. In CPF group these numbers were lower than in nonfrozen controls. Cryopreservation of spermatozoa with either of two freezing media led to a decrease in post-thaw viability and motility of spermatozoa but did not affect the rate or spectrum of their morphological anomalies. The use of CPF, but not SF led to a decrease of sperm fertilizing abilities.

Neurological Symptoms as a Showcase of the Inborn Anomaly in a Development of the Arterial and Venous Vessels (Case Report)

Inborn specific anomalies in the development of the cardio-vascular system require strong attention from physicians of many specialties, especially during diagnosing process. The results of all available diagnostic methods of patient examination determine the further treatment tactic. This tactic implying an individual approach to a specific pathology. There are some cases of combined defects of both, the arterial as well as the venous systems, which appealing special interest. This article describes case report of such anomalies in the structure of the vascular system. This case shown in the form of congenital inflection of the aortic arch with true coarctation and the persistent left vena cava superior.

A role for CENP-A/Cse4 phosphorylation on serine 33 in deposition at the centromere.

Centromeres are the sites of assembly of the kinetochore, which connect the chromatids to the microtubules for sister chromatid segregation during cell division. Centromeres are characterized by the presence of the histone H3 variant CENP-A (termed Cse4 in Saccharomyces cerevisiae). Here, we investigated the function of serine 33 phosphorylation of Cse4 (Cse4-S33ph) in S. cerevisiae, which lies within the essential N-terminal domain (END) of the extended Cse4 N-terminus. Significantly, we identified histone H4-K5, 8, 12R to cause a temperature-sensitive growth defect with mutations in Cse4-S33 and sensitivity to nocodazole and hydroxyurea. Furthermore, the absence of Cse4-S33ph reduced the levels of Cse4 at centromeric sequences, suggesting that Cse4 deposition is defective in the absence of S33 phosphorylation. We furthermore identified synthetic genetic interactions with histone H2A-E57A and H2A-L66A, which both cause a reduced interaction with the histone chaperone FACT and reduced H2A/H2B levels in chromatin, again supporting the notion that a combined defect of H2A/H2B and Cse4 deposition causes centromeric defects. Altogether, our data highlight the importance of correct histone deposition in building a functional centromeric nucleosome and suggests a role for Cse4-S33ph in this process.

Successful treatment of cerebral aspergillosis: case report of a patient with T-cell large granular lymphocytic leukemia (T-LGL)

BackgroundInvasive aspergillosis involving patients with neutropenia or severe immunosuppression, such as patients with hematologic malignancies is associated with high mortality. Patients with T-cell large granular lymphocytic leukemia (T-LGL) on the other hand are considered to be less vulnerable for severe opportunistic fungal infection as their course of disease is chronic and marked by less violent cytopenia then in e.g. Aplastic Anemia. Only neutropenia is regarded as independent risk factor for severe opportunistic infection in T-LGL patients.Case presentationWe report a case of a 53 year old patient with T-LGL, Immune-Thrombocytopenia (ITP) and combined antibody deficiency, who presented with fever and reduced general condition. The patient revealed a complicated infection involving the lungs and later the brain, with the presentation of vomiting and seizures. Broad microbiological testing of blood-, lung- and cerebrospinal fluid samples was inconclusive. In the absence of mycological proof, Aspergillus infection was confirmed by pathological examination of a brain specimen and finally successfully treated with liposomal amphotericin B and voriconazole, adopting a long-term treatment scheme.ConclusionsBeyond typical problems in the clinical practice involving fungal infections and hematologic malignancies, this case of invasive aspergillosis in a patient with T-LGL illustrates caveats in diagnosis, therapy and follow-up. Our data support careful ambulatory monitoring for patients with T-LGL, even in the absence of neutropenia. Especially those patients with combined hematologic malignancies and immune defects are at risk. Long-term treatment adhesion for 12 months with sufficient drug levels was necessary for sustained clearance from infection.

Prenatal Findings in Left Atrial Isomerism and an Overview of Heterotaxy Syndrome

Heterotaxy syndrome is a rare, complex disorder involving structural cardiac defects in combination with symmetrical development of abdominal viscera that are normally asymmetrical organs. The vast assortment of cardiac manifestations with accompanying abdominal visceral variations determines the prognosis of heterotaxy syndrome. This case study provides an example of the management of this disease, which is unique to the patient. This is a case report of heterotaxy syndrome diagnosed in utero at 29 weeks and 4 days.

ASSESSMENT OF SURGICAL TREATMENT FOR INFECTED PREAURICULAR SINUS AT HUE CENTRAL HOSPITAL AND HUE UNIVERSITY HOSPITAL

Background: This study aims to research clinical characteristics and to evaluate the results of early surgical treatment of infected preauricular sinus. Subjects and methods: Studied 46 patients (46 ears) sufferring from infected preauricular sinus surgically treated, by the method of descriptive observative prospective study with clinical intervention. Results: Age group of ≤ 15 years old accounted for the highest percentage with 71.8%. Combined defects accounted for 2.2%. Number of patients having familial factors accounted for 60.9%. Location of preauricular sinus: classic position 91.3%, posterior to classic position 8.7%. Positive bacteria culture with the proportion of 38.5%. Common bacterium was Staphylococcus aureus 60%. Most bacteria were sensitive to antibiotics. Stages of the infected preauricular sinus: inflammation 71.7%, abcess 48.5%. Surgical procedures: hot 69.6%, warm 30.4%. Average inpatient time: 8.5 ± 3.1 days. Recurrence after surgery 3 months having 1 ear, accounted for 2.2%. Results after surgery 3 months: good 91.3%, moderate 6.5%, bad 2.2%. Conclusions: Infected preauricular sinus were most common in children, combined defects were rare, having the role of family factors. Preauricular sinus having classic position occupied high percentage. Majority of postoperative results were good. Key words: Preauricular sinus

Overdiagnosis and rising rate of obstetric anal sphincter injuries (OASIS): time for reappraisal.

To determine the accuracy of clinical diagnosis of obstetric anal sphincter injuries (OASIS) using three-dimensional (3D) endoanal ultrasound (EA-US) and to compare symptoms and anal manometry measurements between women with anal sphincters adequately repaired and those with persistent anal sphincter defects. The EA-US images of women with clinically diagnosed and repaired OASIS, defined as third- or fourth-degree perineal tear, who attended the perineal clinic at Croydon University Hospital over a 10-year period (2003-2013) were reanalyzed by a single expert blind to symptoms and the results of clinical examination. St Mark's Incontinence Scores (SMIS) and anal manometry measurements were obtained and compared between women with an intact anal sphincter and those with an anal sphincter scar and between those with an intact anal sphincter and those with a defect. Anal manometry measurements were compared between women with an external anal sphincter (EAS) defect and those with an internal anal sphincter (IAS) defect. The images of 908 women were reanalyzed. No evidence of OASIS was found in 64 (7.0%) women, an EAS scar alone was detected in 520 (57.3%) and an anal sphincter defect in 324 (35.7%). Of the 324 women with a defect, 112 had an EAS defect, 90 had an IAS defect and 122 had a combined IAS and EAS defect. SMIS results were significantly higher in women with an anal sphincter defect compared with those with no evidence of OASIS (P = 0.018), but there was no significant difference in scores between women with an intact sphincter and those with an EAS scar only. Women with a defect had a significantly lower maximum resting pressure (median (range), 44 (8-106) vs 55 (29-86) mmHg; P < 0.001) and maximum squeeze pressure (median (range), 74 (23-180) vs 103 (44-185) mmHg; P < 0.001) compared with those in the intact group. Similar, but less marked, differences were observed in women with an EAS scar compared with those who had an intact anal sphincter. The anal length was significantly shorter in women with a defect compared with those in the intact group (median (range), 20 (10-40) vs 25 (10-40) mm; P = 0.003). Seven percent of women with a clinical diagnosis of OASIS were wrongly diagnosed. We believe that this rate may differ from that of other units but training methods and competency assessment tools for the diagnosis and repair of OASIS need urgent reappraisal. The role of EA-US in the immediate postpartum period needs further evaluation as the accurate interpretation of the images is dependent on the expertise of the staff involved. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies

We report on two novel mtDNA mutations in patients affected with mitochondrial myopathy. The first patient, a 44-year-old woman, had bilateral eyelid ptosis and the m.8305C>T mutation in the MTTK gene. The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. Muscle biopsies in both patients showed ragged red fibers and numerous COX-negative fibers as well as a combined defect of complex I, III and IV activities. The two mutations were heteroplasmic and detected only in muscle tissue, with a higher mutation load in COX-negative fibers. Additionally, both mutations occurred in highly conserved mt-tRNA sites, and were not found by an in silico search in 30,589 human mtDNA sequences. Our report further expands the mutational and phenotypic spectrum of diseases associated with mutations in mitochondrial tRNA genes and reinforces the notion that mutations in mitochondrial tRNAs represent hot spots for mitochondrial myopathies in adults.

Single-stage reconstruction of combined hypopharyngeal and anterior neck skin defects with the dual-paddle anterolateral thigh flap

The ‘dual-paddle’ anterolateral thigh (dpALT) flap has recently emerged as a single-stage reconstructive option for complex defects arising in the setting of pharyngolaryngectomy. We describe our technique, reflect on our initial experience and review this with reference to outcomes reported in the literature for the dpALT flap. A single surgeon, multi-site retrospective study was performed for patients managed with a dpALT for combined hypopharyngeal and anterior neck defects. A standardised approach was devised for preoperative flap planning, harvest and inset. Peri-operative details were appraised and key outcome measures were assessed with particular reference to long-term anatomical and functional endpoints such as fistula and stricture formation, diet tolerability and speech intelligibility. A systematic review of the literature was also performed to identify all studies previously reporting outcomes for the dpALT in hypopharyngeal reconstruction. Seven patients received dpALT reconstruction for combined defects of the hypopharynx and anterior neck between 2009 and 2016. All flaps survived and five patients received the dpALT for a tubular reconstruction of the hypopharynx with two patches performed. Median follow-up was 27.4 months with no reported fistulas and a single case of stricture formation. Regular oral diet was achieved in six patients and alaryngeal speech was intelligible in all seven patients. We report a high success rate with the dpALT flap for extensive hypopharyngeal defects that include an anterior neck skin component. The dpALT adds further to the armamentarium available to the reconstructive surgeon for complicated defects within the head and neck. Level of Evidence: Level IV, therapeutic study.

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G\xa0>\xa0A mutation in the MT-TL2 gene: a case report

BackgroundPure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation that gives rise to an exclusive myopathy associated with exercise intolerance and ophthalmoplegia. We quantified the patient’s exercise intolerance through detailed exercise testing.Case presentationA 39-year-old man presented with exercise intolerance and chronic progressive external ophthalmoplegia. Sequencing of the entire mtDNA identified a m.12,294G > A mutation in the MT-TL2 gene. The mutation was heteroplasmic in skeletal muscle (75%) while undetectable in blood, urinary sediment, and buccal mucosa as well as in tissues from the patient’s mother. The mutation affected a highly conserved site in the anticodon stem of the mitochondrial transfer RNA Leucine (CUN) molecule and lead to a severe combined respiratory chain defect. Exercise physiological studies in the patient demonstrated a significantly reduced maximal oxygen uptake of 20.4 ml O2 × min−1 × kg−1 (about half of normal) as well as threefold elevated lactate/pyruvate ratios.ConclusionThe findings of our study support that the m.12,294G > A mutation is pathogenic. Likely, the mutation arose sporadically in early embryogenesis after differentiation of the mesoderm into muscle progenitor cells, leading to a pure myopathic phenotype.

Effective magnetic pinning schemes for enhanced superconducting property in high temperature superconductor YBa2Cu3O7−x: a review

Enhanced superconducting properties under magnetic field in high temperature superconductors are critical for their technological applications and can be enhanced by both defect pinning and magnetic pinning. Different from defect pinning introduced by nonmagnetic pinning centers, magnetic pinning has some advantages over defect pinning, as it pins the magnetic flux rather than the normal core vortices. Various magnetic materials and different designed architectures have been demonstrated to provide magnetic pinning effect. Four major pinning schemes including metal/YBCO, oxide/YBCO, nanocomposite/YBCO and nanoparticle embedded YBCO have been reviewed. Representative literatures for each magnetic pinning scheme are discussed in detail to explore the pinning enhancement for each scheme. In addition, combined magnetic pinning and defect pinning schemes are proposed to further improve superconducting properties.

Optical characteristics of GaAsSb alloy after rapid thermal annealing

GaAsSb ternary alloy is a promising material for application in infrared optoelectronic devices. In this letter, the investigation of carrier recombination in the as-grown and rapid thermal annealing (RTA) treated GaAsSb samples has been carried out. It was found that after thermal treatment the emission of the GaAsSb material was enhanced and could be maintained up to room temperature. These phenomena can be ascribed to the decrease of non-radiative combination defects in the GaAsSb sample, which implies an improved crystal quality. Moreover, the localized exciton–longitudinal optical phonon interaction is slightly increased after RTA treatment. It is suggested that the interaction depends strongly on the localized states, and the photoluminescence emission intensity can be significantly increased after suitable RTA treatment. Promoting better optical emission in GaAsSb is very useful for its practical application.

Combined perventricular septal defect closure and patent ductus arteriosus ligation via the lower ministernotomy approach.

Over the past decade, minimally invasive approaches have been advocated for surgical correction of congenital defects to reduce costs related to hospitalization and for improved cosmesis. Minimal skin incisions and partial sternotomy reduce surgical trauma, however these techniques might not be successful in treating a number of congenital pathological conditions, particularly for combined congenital defects. We focused on cases with a combined presentation of ventricular septal defect and patent ductus arteriosus. We studied 12 infants who successfully underwent surgical treatment for a combined single-stage ventricular septal defect and patent ductus arteriosus closure through a lower ministernotomy without using cardiopulmonary bypass and X-rays. No intraoperative and early postoperative complications or mortality were noted. Postoperative echocardiography did not reveal residual shunts. The proposed technique is safe and reproducible in infants.

Hypogammaglobulinemia in children: a warning sign to look deeply?

This study investigated phenotypic and functional characteristics of lymphocytes in children with common variable immunodeficiency (CVID) and unclassified hypogammaglobulinemia (UH), as well as B-cell subsets in non-consanguineous parents. Blood samples of 30 children, CVID (n = 9), UH (n = 9), healthy donors HD (n = 12), and 19 adults (parents and controls) were labeled by a combination of surface markers to identify CD4, CD8 T-cell and B-cell subpopulations. T-cell cytokine production in children was analyzed in vitro after stimulation with phytohemagglutinin (PHA) and tetanus toxoid. We observed low percentages of switched memory B cells in children with CVID, increase in total CD4+ T-cell counts, and high percentages of transitional B cells only in UH group. Analysis of T-cell immunity showed that CVID children had decreased percentages of CD8+ IFN-γ-producing cells after stimulation with PHA and tetanus toxoid. Parent of children with CVID had low percentages of naive B cell and increased percentages of memory B cells in comparison with controls. These results suggest that (i) early combined immune defect in children with CVID and (ii) a possible familial B-cell disturbance in pediatric CVID.

Non-vitamin K antagonist oral anticoagulants in patients with severe inherited thrombophilia: a series of 33 patients.

: The aim of the study was to investigate whether treatment with non-vitamin K antagonist oral anticoagulants (NOACs) is effective and well tolerated in real-life patients following venous thromboembolism (VTE) associated with severe inherited thrombophilia. We evaluated 33 consecutive patients with severe inherited thrombophilia, defined as the presence of deficiencies in protein C, protein S, or anti-thrombin, homozygous factor V Leiden and prothrombin G20210A mutations, or combined defects. The patients were recruited from March 2010 to December 2015 and followed till July 2016. Rivaroxaban was used in 23 patients (70%), whereas dabigatran and apixaban were used in 4 patients each. During a median 21 (range 8-34) months' follow-up, three recurrent VTE episodes (9%) were observed. Deep vein thrombosis recurred after 6 months on rivaroxaban in a protein S-deficient 32-year-old woman who had heavy menstrual bleeding resulting in interruptions of therapy. A long journey preceded deep vein thrombosis recurrence after 12 months of rivaroxaban use in a 59-year-old obese man homozygous for prothrombin 20210A mutation. The third recurrent VTE following anticoagulation withdrawal prior to surgery and during hospitalization was observed in a 56-year-old woman with protein S deficiency and heterozygous factor V Leiden. The three patients continued use of NOACs, apixaban, dabigatran, and rivaroxaban, respectively. This largest real-life series of patients with severe thrombophilia receiving NOACs indicates that such patients could be safely and effectively treated with NOACs. Lower efficacy was observed in protein S deficiency. Recurrent VTE was mostly related with nonadherence, which highlights an important role of regular intake of NOACs in high-risk patients.

The modern methods of X-Ray based diagnostic in cases of ectopia cordis associated with pentalogy of Cantrell

Pentalogy of Cantrell with ectopia cordis is an extremely rare and lethal congenital anomaly included congenital hearth disease (CHD), midline supraumbilical abdominal wall defect, defect of lower sternum part, deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium. The complexity of this syndrome is usually incompatible with life. Depending on the location of the protruding heart and on the extent of the body wall defect, ectopia cordis may be grouped into cervical, thoracic, thoracoabdominal, or abdominal types. The heart mostly uncovered, covered with a serous membrane less often, and covered with skin rare. Depending on combination defects pentalogy of Cantrell classified for 3 different classes by Toyama (classified in 1972): 1 class – complete syndrome (all five defects), 2 class – probable syndrome (included intracardial defect and ventral abdominal wall defect) 3 class – incomplete syndrome (with various combinations of defects present, including a sternal abnormality). Presented clinical case newborn pentalogy of Cantrell first Toyama class. We used X-Ray for firstly diagnostic, for visualization CHD was performed CT. For postnatal diagnostic CHD are used Echo and CT. CT allows graphically to see the type of CHD and predict a surgical treatment. The strategy of surgical treatment and further prognose are depend on combination of anomalies within the framework of pentalogy of Cantrell. By CT we determined atresia of the pulmonary artery with major aorto-pulmonary collateral arteries (MAPCA), ventricular and atrial septal defects.