bluuebunny/crossref_metadata_2025 huggingface dataset:
Medication Noncompliance among Patients with Chronic Diseases Attending a Primary Health Facility in a Periurban District in Ghana
Authors: Addo Bright , Sencherey Sally , Babayara Michael N. K.
Published: June 2018

Background. Despite the growing interest in understanding the aetiology of chronic diseases, limited studies exist on medication noncompliance, especially, among periurban and rural dwellers in Ghana. In this study, we determined the prevalence of medication noncompliance and explored the medication intake behaviour of patients with chronic diseases. The relative influence of cost on medication noncompliance and the risk factors for noncompliance were also assessed. Methods. The design was a cross-sectional study of 200 patients from ages below 40 years to ages above 60 years sampled from the Offinso South Municipality, a periurban district of the Ashanti region of Ghana. Data collected through the administration of structured questionnaires was coded, cleaned, and analysed using the SPSS (v20) software programme. Descriptive and multivariate analyses using binary logistic regression were performed. Results. Medication noncompliance was high (55.5%), with patients living with HIV/AIDS and those with psychological disorders being the most noncompliant. Majority of patients took at least 2 medications (81.5%), did so twice daily (79.0%), did not experience side effects with intake (67.0%), considered their medication to be effective (88.5%), and were aware of the complications that could arise from noncompliance. The dominant route of medication intake was oral (86.8%) and a lesser proportion of patients (22.5%) took herbal preparation alongside their prescribed medications. The cost of medication did not prevent patients from adhering to their medication regimen as most of these drugs were covered by the National Health Insurance Scheme (NHIS). Age, duration of diagnosis and difficulty in remembering medication instructions were identified as significant predictors of noncompliance. Conclusion. Educating patients on the need to be compliant with their medication regimen, the complications that could arise from noncompliance and avoidance of intake of herbal medications during their treatment should form part of the clinical sessions organized for patients with chronic conditions.
Tribocorrosion of Passive Materials: A Review on Test Procedures and Standards
Authors: López-Ortega A. , Arana J. L. , Bayón R.
Published: June 2018

This paper reviews the most recent available literature relating to the electrochemical techniques and test procedures employed to assess tribocorrosion behaviour of passive materials. Over the last few decades, interest in tribocorrosion studies has notably increased, and several electrochemical techniques have been adapted to be applied on tribocorrosion research. Until 2016, the only existing standard to study tribocorrosion and to determine the synergism between wear and corrosion was the ASTM G119. In 2016, the UNE 112086 standard was developed, based on a test protocol suggested by several authors to address the drawbacks of the ASTM G119 standard. Current knowledge on tribocorrosion has been acquired by combining different electrochemical techniques. This work compiles different test procedures and a combination of electrochemical techniques used by noteworthy researchers to assess tribocorrosion behaviour of passive materials. A brief insight is also provided into the electrochemical techniques and studies made by tribocorrosion researchers.
An Assessment of the Genotoxicity and Subchronic Toxicity of a Supercritical Fluid Extract of the Aerial Parts of Hemp
Authors: Marx Tennille K. , Reddeman Robin , Clewell Amy E. , Endres John R. , Béres Erzsébet , Vértesi Adél , Glávits Róbert , Hirka Gábor , Szakonyiné Ilona Pasics
Published: June 2018

A battery of toxicological studies was conducted on a supercritical CO2 extract of the aerial parts of the Cannabis sativa plant, containing approximately 25% cannabinoids. No evidence of genotoxicity was found in a bacterial reverse mutation test (Ames), in an in vitro mammalian chromosomal aberration test, or in an in vivo mouse micronucleus study. A 14-day repeated oral dose-range finding study conducted in Wistar rats at 1000, 2000, and 4000 mg/kg bw/day resulted in effects where a NOAEL could not be concluded. Based on those results, a 90-day repeated dose oral toxicity study was performed in rats using doses of 100, 360, and 720 mg/kg bw/day, followed by a 28-day recovery period for two satellite groups. Significant decreases in body weight, body weight gain, and differences in various organ weights compared to controls were observed. At the end of the recovery period, many of the findings were trending toward normal; thus, the changes appeared to be reversible. The NOAEL for the hemp extract in Hsd.Han Wistar rats was considered to be 100 mg/kg bw/day for males and 360 mg/kg bw/day for females.
Expression of Gαq Is Decreased in Lymphocytes from Primary Sjögren’s Syndrome Patients and Related to Increased IL-17A Expression
Authors: Sun Yuechi , Wang Ying , Chen Shiju , Fan Guihua , Zhang Junhui , Dai Fan , Qian Hongyan , Liu Yuan , Shi Guixiu
Published: June 2018

Primary Sjögren’s syndrome (pSS) is a rheumatic disease characterized by the destruction of salivary and lacrimal glands, and its pathogenesis mechanism remains unclear. Gαq is the α-subunit of the heterotrimeric Gq protein. Researches demonstrated that Gαq was involved in the pathogenesis regulation of several rheumatic diseases. This study explored the role of Gαq in pSS. Gαq mRNA levels in peripheral blood mononuclear cells (PBMCs) from 39 patients and 26 healthy controls (HCs) were investigated using real-time PCR. IL-17A serum concentrations in 22 pSS patients and 23 HCs were tested by ELISA, and the clinical significance of Gαq was analyzed. The association of Gαq with interleukin-17A (IL-17A) expression was also analyzed in patients with pSS. We showed that Gαq expression in PBMCs from patients with pSS was significantly lower than that in PBMCs from HCs. Gαq expression level was closely associated with pSS disease activity. Furthermore, a negative association was also found in IL-17A and Gαq expression level. These data suggest that Gαq is involved in pSS pathogenesis regulation, possibly due to its regulation of Th17. These results provide new insights into the pSS pathogenesis mechanism involving abnormal Th17 regulation.
Unusual Case of a Torted Mesenteric Fibroid
Authors: Bajis Rawan , Eloundou Gregg
Published: June 2018

Extrauterine leiomyomas are very rare and present a clinical and diagnostic challenge due to their unusual growth patterns and behaviours. A 47-year-old woman was transferred to our tertiary specialist obstetrics and gynaecology hospital with acute abdominal pain and a palpable abdominal mass. She was taken immediately to theatre with the presumptive diagnosis of an ovarian torsion. Intraoperatively, a large necrotic mass originating from the mesentery and attachments to the bowel at the ileocaecal junction was noted. When converted to laparotomy due to limited access and poor visualisation, the uterus, ovaries, and tubes were found to be normal. A right partial hemicolectomy was performed with the assistance of the colorectal surgeon due to suspicion of bowel malignancy. Histology revealed a benign infarcted leiomyoma with adhesions to the adjacent ileum. The diagnosis of a primary torted mesenteric fibroid was made.
Raman Spectroscopy and Imaging for Cancer Diagnosis
Authors: Cui Sishan , Zhang Shuo , Yue Shuhua
Published: June 2018

Raman scattering has long been used to analyze chemical compositions in biological systems. Owing to its high chemical specificity and noninvasive detection capability, Raman scattering has been widely employed in cancer screening, diagnosis, and intraoperative surgical guidance in the past ten years. In order to overcome the weak signal of spontaneous Raman scattering, coherent Raman scattering and surface-enhanced Raman scattering have been developed and recently applied in the field of cancer research. This review focuses on innovative studies of the use of Raman scattering in cancer diagnosis and their potential to transition from bench to bedside.
Never Too Old? Occurrence of Medulloblastoma in the Elderly beyond the 70th Year of Life
Authors: Maslehaty Homajoun , Van de Nes Johannes , Teuber-Hanselmann Sarah , Moenninghoff Christoph , Sure Ulrich , Oezkan Neriman
Published: June 2018

The occurrence of medulloblastoma (MB) in the elderly is an absolutely rare event. Concerning this issue we report on two MB patients beyond the 70th year of life. Two patients older than 70 years presented with a mass in the posterior fossa without evidence of a preexisting malignant tumor. After careful radiological work-up the suspected diagnosis was metastasis of an unknown primary tumor. Both patients underwent surgery and histopathological analysis revealed MB in both cases (classical MB and desmoplastic type). The two cases presented here represent also one classical MB and one additional desmoplastic MB. To our knowledge we report for the first time that there are different molecular subtypes of MB in the elderly patients that seem to be consistent with those subtypes mainly occurring in young adults. Unfortunately the patients died within one week after surgery due to respiratory insufficiency and an unclear cause. The presented cases show that MB can occur in the elderly. Although this constellation is absolutely rare, MB should be considered in the differential diagnosis, especially when a primary tumor is not known or detected.
The Rising Triad of Cesarean Scar Pregnancy, Placenta Percreta, and Uterine Rupture: A Case Report and Comprehensive Review of the Literature
Authors: Docheva Nikolina , Slutsky Emily D. , Borella Nicolette , Mason Renee , Van Hook James W. , Seo-Patel Sonyoung
Published: June 2018

As the rate of cesarean sections continues to rapidly rise, knowledge of diagnosis and management of cesarean scar pregnancies (CSPs) is becoming increasingly more relevant. CSPs rest on the continuum of placental abnormalities which include morbidly adherent placenta (accreta, increta, and percreta). A CSP poses a clinical challenge which may have significant fetal and maternal morbidity. At this point, no clear management guidelines and recommendations exist. Herein we describe the case of a second trimester CSP with rapid diagnosis and management in a tertiary care center. The case underscores the need for well-coordinated mobilization of resources and a multidisciplinary approach. A review of the literature is performed and deficits in universal management principles are underscored.
Synthesis and Characterization of a Multifunctional Conjugated Polymer
Authors: Campos Emerson C. G. , Zanlorenzi Cristiano , Nowacki Bruno F. , Miranda Gabriela M. , Turchetti Denis A. , Akcelrud Leni C.
Published: June 2018

This work reports the synthesis and characterization of a conjugated polymer based on fluorene and terpyridine, namely, poly[(9,9-bis(3-((S)-2-methylbutylpropanoate))fluorene-alt-6,6′-(2,2′:6′,2′′-terpyridin-6-yl)] (LaPPS71). The structure was characterized by 1H and 13C nuclear magnetic resonance (NMR) and Fourier-transform infrared (FTIR) spectroscopy. The molar mass was measured by gel permeation chromatography (GPC). As thermal characterization, the glass transition temperature (Tg) was measured by differential scanning calorimetry (DSC). The polymer structure contains two sites capable of complexation with metallic ions, affording the possibility of obtainment of independent or electronically coupled properties, depending on the complexation site. The photophysical properties were fully explored in solution and solid state, presenting ideal results for the preparation of various metallopolymers, in addition to potential application as a metamaterial, due to the presence of the chiral center in the side chains of the polymer.
Graves’ Disease Presenting with Periodic Paralysis to the Emergency Department
Authors: Lan Nick Si Rui , Fegan P. Gerry
Published: June 2018

Thyrotoxic periodic paralysis is an infrequent manifestation of hyperthyroidism and an uncommon cause of muscle weakness in western countries. The diagnosis should be considered in the differential when a patient presents with transient and recurrent weakness associated with hypokalaemia. We present a case of a 26-year-old Asian male presenting with sudden onset muscle weakness affecting predominantly his lower limbs on a background of weight loss. Physical examination demonstrated symmetrical proximal muscle weakness with normal sensation and reflexes. Initial biochemical investigations revealed hypokalaemia, hypomagnesaemia, and hyperthyroidism. Intravenous electrolyte replacement was administered in the emergency department. The patient’s symptoms resolved during inpatient admission. Subsequent TSH receptor antibody testing and radionuclide thyroid scan confirmed a diagnosis of Graves’ disease. The patient was discharged on antithyroid medication with no further episodes of weakness on follow-up. Therefore, thyrotoxic periodic paralysis can be the presenting feature of previously undiagnosed Graves’ disease and should be considered in the differential diagnosis in patients presenting with weakness.
Microsurgical Reconstruction of the Jaws Using Vascularised Free Flap Technique in Patients with Medication-Related Osteonecrosis: A Systematic Review
Authors: Sacco Roberto , Sacco Nicola , Hamid Umar , Ali Syed Hasan , Singh Mark , Blythe John St. J.
Published: June 2018

Background. Osteonecrosis of the jaw (ONJ) has been reported to be associated with patients receiving primarily bisphosphonate (BP) therapies. However, lately it has been documented that other medications, such as RANK ligand inhibitor (denosumab) and antiangiogenic drug, can cause ONJ. Micro-osseous-vascular reconstruction of the jaws in patients affected by medication-related osteonecrosis of the jaw represents a viable option of treatment for patients affected by stage III of the disease. However, there are still considerable doubts about the success of this procedure in the short, medium, and long term. Material and Methods. A multidatabase (PubMed/MEDLINE, EMBASE, and CENTRAL) systematic search was performed. Any type of studies considering human patients treated with antiresorptive and antiangiogenic drugs was considered. The aim of the research is to primarily understand the success rate of micro-osseous-vascular reconstruction in the short, medium, and long period of time. This review has also the goal of better understanding any perioperative and postoperative complications resulting from the use of the reconstruction techniques. Results. Eighteen studies resulted eligible for the study. Fibula free flap is the most commonly utilised vascularised free flap reconstruction technique (80.76%). Ten out of eighteen studies reported no complications. Recurrence of osteonecrosis was registered in five cases (6.41%) after free flap reconstruction. The overall free flap success rate was 96.16%. Conclusions. Based on the limited data available in literature (Level 4 of the Oxford Evidence-based medicine scale), micro-osseous-vascular reconstruction of the jaws represents a valid treatment in patients with bisphosphonate-related osteonecrosis at stage III of the disease. However, additional data based on a larger cohort of patients are necessary to justify this type of intervention in patient affected by MRONJ.
MiR-92a Inhibits the Progress of Osteosarcoma Cells and Increases the Cisplatin Sensitivity by Targeting Notch1
Authors: Liu Quanxiang , Song Yang , Duan Xianliang , Chang Yuan , Guo Jianping
Published: June 2018

Background. MicroRNAs (miRs) have been implicated in the development and progression of osteosarcoma. Here, we aimed to illustrate the important role of miR-92a on the regulation of OS development which may help to establish a novel strategy for OS diagnosis and treatment. Materials and Methods. Cell viability was measured by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Cell cycle and apoptosis were assessed by flow cytometry with PI and PI/Annexin-V stain, respectively. The expression of proteins was examined by western blot. qPCR was used to detect the expression of RNA. Cell migration was assayed with transwell assay. Results. MiR-92a inhibited the proliferation and the migration of OS in vitro and reduced the volume of the tumour in vivo. Further, miR-92a enhanced cisplatin sensitivity of OS. MiR-92a directly targeted Notch1. Conclusion. Together, our results indicate that miR-92a inhibited cell growth, migration, and enhanced cisplatin sensitivity of OS cell by targeting Notch1.
MACROD2 Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors
Authors: Sakthianandeswaren Anuratha , Parsons Marie J. , Mouradov Dmitri , MacKinnon Ruth N. , Catimel Bruno , Liu Sheng , Palmieri Michelle , Love Christopher , Jorissen Robert N. , Li Shan , Whitehead Lachlan , Putoczki Tracy L. , Preaudet Adele , Tsui Cary , Nowell Cameron J. , Ward Robyn L. , Hawkins Nicholas J. , Desai Jayesh , Gibbs Peter , Ernst Matthias , Street Ian , Buchert Michael , Sieber Oliver M.
Published: June 2018

ADP-ribosylation is an important posttranslational protein modification that regulates diverse biological processes, controlled by dedicated transferases and hydrolases. Here, we show that frequent deletions (∼30%) of the MACROD2 mono-ADP-ribosylhydrolase locus in human colorectal cancer cause impaired PARP1 transferase activity in a gene dosage–dependent manner. MACROD2 haploinsufficiency alters DNA repair and sensitivity to DNA damage and results in chromosome instability. Heterozygous and homozygous depletion of Macrod2 enhances intestinal tumorigenesis in ApcMin/+ mice and the growth of human colorectal cancer xenografts. MACROD2 deletion in sporadic colorectal cancer is associated with the extent of chromosome instability, independent of clinical parameters and other known genetic drivers. We conclude that MACROD2 acts as a haploinsufficient tumor suppressor, with loss of function promoting chromosome instability, thereby driving cancer evolution.

Significance: Chromosome instability (CIN) is a hallmark of cancer. We identify MACROD2 deletion as a cause of CIN in human colorectal cancer. MACROD2 loss causes repression of PARP1 activity, impairing DNA repair. MACROD2 haploinsufficiency promotes CIN and intestinal tumor growth. Our results reveal MACROD2 as a major caretaker tumor suppressor gene. Cancer Discov; 8(8); 988–1005. ©2018 AACR.

See related commentary by Jin and Burkard, p. 921.

This article is highlighted in the In This Issue feature, p. 899
Clinical and Biological Correlates of Neurotoxicity Associated with CAR T-cell Therapy in Patients with B-cell Acute Lymphoblastic Leukemia
Authors: Santomasso Bianca D. , Park Jae H. , Salloum Darin , Riviere Isabelle , Flynn Jessica , Mead Elena , Halton Elizabeth , Wang Xiuyan , Senechal Brigitte , Purdon Terence , Cross Justin R. , Liu Hui , Vachha Behroze , Chen Xi , DeAngelis Lisa M. , Li Daniel , Bernal Yvette , Gonen Mithat , Wendel Hans-Guido , Sadelain Michel , Brentjens Renier J.
Published: June 2018

CD19-specific chimeric antigen receptor (CAR) T-cell therapy is highly effective against relapsed or refractory acute lymphoblastic leukemia (ALL), but is hindered by neurotoxicity. In 53 adult patients with ALL, we found a significant association of severe neurotoxicity with high pretreatment disease burden, higher peak CAR T-cell expansion, and early and higher elevations of proinflammatory cytokines in blood. Patients with severe neurotoxicity had evidence of blood–cerebrospinal fluid (CSF) barrier disruption correlating with neurotoxicity grade without association with CSF white blood cell count or CAR T-cell quantity in CSF. Proinflammatory cytokines were enriched in CSF during severe neurotoxicity with disproportionately high levels of IL6, IL8, MCP1, and IP10, suggesting central nervous system–specific production. Seizures, seizure-like activity, myoclonus, and neuroimaging characteristics suggested excitatory neurotoxicity, and we found elevated levels of endogenous excitatory agonists in CSF during neurotoxicity.

Significance: We detail the neurologic symptoms and blood, CSF, and neuroimaging correlates of neurotoxicity associated with CD19 CAR T cells and identify neurotoxicity risk factors. Our findings implicate cellular components other than T cells and suggest novel links between systemic inflammation and characteristic neurotoxicity symptoms. Cancer Discov; 8(8); 958–71. ©2018 AACR.

This article is highlighted in the In This Issue feature, p. 899
Biological Hazards for Healthcare Workers: Occupational Exposure to Vancomycin-Resistant Staphylococcus aureus as an Example of a New Challenge
Authors: Sacadura-Leite Ema , Mendonça-Galaio Luís , Shapovalova Olena , Pereira Isabel , Rocha Regina , Sousa-Uva António
Published: June 2018

Infections are among the most important occupational risks for healthcare workers. Some infections can be prevented through vaccination but, in other cases, there are no vaccines to prevent them, as happens with infections from antimicrobial-resistant organisms. Precautions related with transmission route and contact isolation or respiratory isolation are very important in order to protect healthcare workers and other patients. In this paper, the authors reviewed biological hazards for healthcare workers and described the procedures undertaken by an occupational health department (OHD) of a Portuguese hospital where vancomycin-resistant Staphylococcus aureus (VRSA) was isolated from a patient, for the first time in Europe. After the VRSA strain isolation, healthcare workers were instructed to adopt contact preventive measures. Nasal swabs were cultured weekly in 33 healthcare workers for several weeks until the patients’ culture changed to negative. In the meantime, OHD prepared actions to adopt in case of VRSA colonization or infection in healthcare workers.
Severe Nightly Thoracic Pain Presenting during Pregnancy: A Case Report
Authors: van der Hoeven Marjon E.M. , de Pont Lisa M.H. , Koppen Hille
Published: June 2018

We present the case of a woman who developed severe nightly thoracic pain during pregnancy without neurological deficits upon examination. Spontaneously after childbirth, the pain was markedly reduced. Further investigation showed that her pain was caused by an ependymoma in the cervicothoracic spinal cord. Gross total resection was accomplished, and the patient has been free of pain ever since. With this case, we want to draw attention to a rare, but possibly very disabling, cause of increasing nightly thoracic pain during pregnancy. Spontaneous improvement after childbirth could erroneously cause postponement of further investigation.
Clinical Utility of the Cognitive Test for Severe Dementia: Factor Analysis, Minimal Detectable Change, and Longitudinal Changes
Authors: Tanaka Hiroyuki , Nagata Yuma , Ishimaru Daiki , Ogawa Yasuhiro , Fukuhara Keita , Nishikawa Takashi
Published: June 2018

Aims: This study sought to conduct additional analyses of the Cognitive Test for Severe Dementia (CTSD) using the COSMIN checklist to ensure the development of adequate outcome measures. Methods: The following analyses were conducted: (1) factor analyses were used to evaluate construct validity; (2) the standard error of measurement (SEM) and minimal detectable change (MDC) were assessed to evaluate reliability and interpretability; and (3) longitudinal change was assessed to evaluate responsiveness. Results: The CTSD factor analysis yielded 2 factors, each of which was dichotomized by the passage rate of each item. We calculated a SEM and MDC of 1.6 and 3.6 points, respectively. Finally, the mean CTSD score showed a significant reduction (p < 0.001) over time, and the change in score exceeded the SEM and MDC. Conclusion: Our results indicate that the CTSD could provide a reliable outcome measure in severe dementia.
Osteoblast versus Adipocyte: Bone Marrow Microenvironment-Guided Epigenetic Control
Authors: Li Jiao , Zuo Bin , Zhang Li , Dai Liming , Zhang Xiaoling
Published: June 2018

The commitment and differentiation of bone marrow mesenchymal stem cells (MSCs) is tightly controlled by the local environment ensuring lineage differentiation balance and bone homeostasis. However, pathological conditions linked with osteoporosis have changed the bone marrow microenvironment, shifting MSCs’ fate to favor adipocytes over osteoblasts, and consequently leading to decreased bone mass with marrow fat accumulation. Multiple questions related to the underlying mechanisms remain to be answered. As recent findings have confirmed the fundamental role of the epigenetic mechanism in connecting environmental signals with gene expression and stem cell differentiation, a regulatory network in the bone marrow microenvironment, epigenetic modulation, gene expression, and MSC differentiation begins to emerge. This review discusses how pathological environmental factors affect MSCs’ fate by epigenetic modulating lineage-specific genes. We conclude that manipulating local environments and/or the epigenetic regulatory machinery that target the adipocyte differentiation pathway might be a therapeutic implication of bone loss diseases such as osteoporosis.
Prospective Evaluation of Intrahepatic Microscopic Occult Tumor Foci in Patients with Numerous Colorectal Liver Metastases
Authors: Vigano Luca , Di Tommaso Luca , Mimmo Antonio , Sollai Mauro , Cimino Matteo , Donadon Matteo , Roncalli Massimo , Torzilli Guido
Published: June 2018

Background: Patients with numerous colorectal liver metastases (CLM) have high risk of early recurrence after liver resection (LR). The presence of intrahepatic occult microscopic metastases missed by imaging has been hypothesized, but it has never been assessed by pathology analyses. Methods: All patients with > 10 CLM who underwent LR between September 2015 and September 2016 were considered. A large sample of liver without evidence of disease (“healthy liver”) was taken from the resected specimen and sent to the pathologist. One mm-thick sections were analyzed. Any metastasis, undetected by preoperative and intraoperative imaging, but identified by the pathologist was classified as occult microscopic metastasis. Results: Ten patients were prospectively enrolled (median number of CLM n = 15). In a per-lesion analysis, the sensitivity of computed tomography and magnetic resonance imaging was 91 and 98% respectively. The pathology examination confirmed all the CLM. All patients had an adequate sample of “healthy liver” (median number of examined blocks per sample n = 14 [5–33]). No occult microscopic metastases were detected. After a median follow-up of 15 months, 5 patients were disease-free. Recurrence was hepatic and bilobar in all patients. Conclusions: Clinically relevant occult microscopic disease in patients with numerous CLM is excluded. These results support the indication to resection in such patients and exclude the need for de principe major hepatectomy to increase the completeness of surgery.
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis
Authors: Hatano Megumi , Fukuzawa Ryuji , Hasegawa Yukihiro
Published: June 2018

Some patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY, are known to manifest complications characteristic of Turner syndrome. We report a 16-year-old social male with MGD presenting with coarctation of the aorta, one of the common complications for Turner syndrome. At birth, the patient was found to have hypospadias, bifid scrotum, and cryptorchidism. Chromosomal analysis of his lymphocytes revealed the karyotype 45,X[7]/46,X,dic(Y;22)(p11.3;q13.3)[23] (named 45,X/46,X+Y fragment in this article). A left gonadectomy was performed at 1 year of age, and the histology showed a streak gonad with an epithelial cord-like structure compatible with MGD. At the age of 10 years, coarctation of the aorta was discovered by chance, for which the patient underwent surgical repair. The ratio of mosaicism in the gonad and aortic tissues was estimated by FISH with probes to identify the X centromere-specific repeat sequence and Yp11.2. The mosaicism ratio of 45,X/46,X+Y fragment varied among the tissues, with those having a higher ratio being more likely to exhibit the Turner syndrome phenotype. Some 90% of cells in the aortic tissues and 80% in the gonadal tissues lacked a Y chromosome. In conclusion, the mosaicism ratio in the different tissues may explain the phenotypes in MGD.
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2
Authors: Letard Pascaline , Schepers Dorien , Albuisson Juliette , Bruneval Patrick , Spaggiari Emmanuel , Van de Beek Gerarda , Khung-Savatovsky Suonavy , Belarbi Nadia , Capri Yline , Delezoide Anne-Lise , Loeys Bart , Guimiot Fabien
Published: June 2018

EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing of long bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers. Sequencing of the EFEMP2 gene revealed a novel homozygous nonsense mutation: c.639C>A (p.Cys213*). We performed a thorough histological analysis and discuss differential diagnoses, genotype-phenotype correlations, and the challenge of prenatal diagnosis of this disease.
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
Authors: Coelho Molck Miriam , Simioni Milena , Paiva Vieira Társis , Paoli Monteiro Fabíola , Gil-da-Silva-Lopes Vera L.
Published: June 2018

Partial duplication of chromosome 3q - dup(3q) - is a recognizable syndrome with dysmorphic facial features, microcephaly, digital anomalies, and genitourinary and cardiac defects, as well as growth retardation and developmental delay. Most cases of dup(3q) result from unbalanced translocations or inversions and are accompanied by additional chromosomal imbalances. Pure dup(3q) is rare, and only 31 cases have been reported so far. We report a new case of a girl with a pure 2-Mb duplication at 3q26.2 not encompassing the known critical region 3q26.3q27. After an extensive review, to the best of our knowledge, the case herein presented harbors the shortest 3q duplication of this region. The clinical phenotype of this patient resembles previously reported cases of pure dup(3q) syndrome, including intellectual disability, synophrys, a wide nasal bridge, dysmorphic ears, clinodactyly, and cardiac defects. We suggest that the 3q26.2 duplication is a candidate copy number alteration explaining our patient's clinical phenotype.
Tenacity of Collateral Perfusion in Proximal Cerebral Arterial Occlusions 6–12 h after Onset
Authors: Kim Beom Joon , Kim Hyeran , Jeong Han-Gil , Yang Mi Hwa , Jung Cheol Kyu , Han Moon-Ku , Kim Jae Hyoung  , Demchuk Andrew M. , Bae Hee-Joon
Published: June 2018

Background: Clinical trials have shown that benefits of endovascular recanalization (EVT) for acute ischemic stroke patients with sizable penumbral tissues seems plausible even beyond 6 h after their last seen normal (LSN). Persistency of ischemic penumbra remains unclear in delayed periods. Methods: From a prospective stroke registry database, we identified 111 acute ischemic stroke patients who had internal carotid artery or middle cerebral artery occlusion with baseline National Institutes of Health Stroke Scale scores ≥6 points and arrived 6–12 h after LSN. Baseline information and functional outcomes were prospectively collected as a clinical registry. Attending physicians made treatment decisions for EVT based on the current guidelines and institutional protocols. MR image parameters, including the volume of diffusion-restricted lesions and mapping of the ­hypoperfused area, were quantified using automated commercial software. Binary logistic regression analysis models, with modified Rankin Scale (mRS) scores of 0–1 at 3 months after stroke included as a dependent variable, were constructed. Results: Between 6 and 12 h after onset, 58% had a mismatch ratio of ≥1.8 at baseline and 42% had favorable imaging profiles as determined by DEFUSE 2 study. After 9 h, there was a mismatch ratio of ≥1.8 in 47 and 38% favorable profiles. EVT was performed in 54% of cases. A 3-month mRS score of 0–1 was found in 19% (25% in EVT and 12% in medical treatment groups) of cases. EVT was associated with an increased OR of having a mRS score of 0–1 at 3 months after stroke (adjusted OR 7.59 [95% CI 1.28–61.60]). Conclusions: Penumbral tissues were persistent in a substantial proportion of anterior circulation occlusion cases 6–12 h after LSN. EVT at 6–12 h in a predominantly Asian cohort resulted in better outcomes.
Low Morbidity after Extracranial-Intracranial Bypass Operation. The Danish Extracranial-Intracranial Bypass Study: A Nationwide Survey
Authors: von Weitzel-Mudersbach Paul , Andersen Grethe , Rosenbaum Sverre
Published: June 2018

Background: Patients with symptomatic atherosclerotic carotid artery occlusion (SACAO) have a high risk of a recurrent stroke. Extracranial-intracranial bypass (EC-IC bypass) has been shown not to improve outcome compared with medical treatment alone because long-term prevention of recurrent stroke in operated patients was offset by high perioperative stroke rates. We report our experience with EC-IC bypass operated at an experienced high-volume centre. Methods: We conducted a nationwide observational study of EC-IC bypass patients operated in the years 2007–2016 due to SACAO with ongoing clinical symptoms or progression on MRI and severe haemodynamic failure (SHF). Perioperative stroke and death within 30 days after the operation, ipsilateral stroke, bypass patency, transient ischaemic attack, and all-stroke events and deaths during long-term follow-up were registered prospectively. Results: EC-IC bypass was performed in 48 patients with SHF and SACAO. The mean age was 64 (45–83) years. The mean follow-up was 3.6 years. The stroke rate after 30 days was 4.2%. No further ipsilateral strokes occurred during follow-up. Clinical symptoms arrested in all patients. Bypass patency rate was 94%. Conclusions: The perioperative stroke rate in EC-IC bypass operation, performed at a highly experienced centre, was low. During long-term follow-up, no ipsilateral stroke occurred. Consequently, EC-IC-bypass should still be considered for selected patients with SACAO, if operation can be carried out in experienced centres with low perioperative morbidity.
Dialysate Potassium and Mortality in a Prospective Hemodialysis Cohort
Authors: Ferrey Antoney , You Amy S. , Kovesdy Csaba P. , Nakata Tracy , Veliz Mary , Nguyen Danh V. , Kalantar-Zadeh Kamyar , Rhee Connie M.
Published: June 2018

Background: Studies examining the association of dialysate potassium concentration and mortality in hemodialysis patients show conflicting findings. We hypothesized that low dialysate potassium concentrations are associated with higher mortality, particularly in patients with high pre-dialysis serum potassium concentrations. Methods: We evaluated 624 hemodialysis patients from the prospective Malnutrition, Diet, and Racial Disparities in Kidney Disease study recruited from 16 outpatient dialysis facilities over 2011–2015 who underwent protocolized collection of dialysis treatment characteristics every 6 months. We examined the association of dialysate potassium concentration, categorized as 1, 2, and 3 mEq/L, with all-cause mortality risk in the ­overall cohort, and stratified by pre-dialysis serum potassium (< 5 vs. ≥5 mEq/L) using case-mix adjusted Cox models. Results: In baseline analyses, dialysate potassium concentrations of 1 mEq/L were associated with higher mortality, whereas concentrations of 3 mEq/L were associated with similar mortality in the overall cohort (reference: 2 mEq/L): adjusted hazard ratios (aHRs; 95% CI) 1.70 (1.01–2.88) and 0.95 (0.64–1.39), respectively. In analyses stratified by serum potassium, baseline dialysate potassium concentrations of 1 mEq/L were associated with higher mortality in patients with serum potassium ≥5 mEq/L but not in those with serum potassium < 5 mEq/L: aHRs (95% CI) 2.87 (1.51–5.46) and 0.74 (0.27–2.07), respectively (p interaction = 0.04). These findings were robust with incremental adjustment for serum potassium, potassium-binding resins, and potassium-modifying medications. Conclusion: Low (1 mEq/L) dialysate potassium ­concentrations were associated with higher mortality, particularly in hemodialysis patients with high pre-dialysis serum potassium. Further studies are needed to identify therapeutic strategies that mitigate inter-dialytic serum potassium accumulation and subsequent high dialysate serum potassium gradients in this population.
МОРФОЛОГІЧНІ ЗМІНИ СЕРЦЯ У ТВАРИН З ЕКСПЕРИМЕНТАЛЬНИМ СИСТЕМНИМ ЧЕРВОНИМ ВОВЧАКОМ
Authors: Syniachenko O. V. , Breslavets A. V. , Yehudina Ye. D.
Published: June 2018

Патологія серця при системному червоному вовчаку (СЧВ) належить до найбільш частих проявів захворювання і багато в чому визначає його прогноз, а морфологічні зміни уражень міокарда, ендокарда та коронарних судин залишаються вивченими недостатньо. Гістологічна оцінка окремих кардіальних структур проводиться на природних моделях СЧВ у лінійних мишей.Мета і задачі роботи: вивчити в експерименті на тваринах (щурах) з моделлю СЧВ ступінь ушкодження міокарда, ендокарда й судин серця, зіставивши отримані результати з даними гістологічного дослідження тканин тимусу та селезінки.Матеріал і методи. Моделювання СЧВ виконано на 53 білих безпородних щурах (34 самиці і 19 самців) з використанням уведень повного адъюванта Фрейнда, селезінкової дезоксирібонуклеїнової кислоти великої рогатої худоби, циклофосфаміду, азиду й дезоксирібонуклеїнату натрію, вигодовуванням тварин з додаванням в їжу сульфату кадмію, оксибутирату літію і молібдату амонію. Гістологічні препарати серця забарвлювали гематоксиліном та еозином, альціановим синім (рН=2,6), за ван Гізоном, ставилась PAS-реакція.Результати. Експериментальний СЧВ супроводжується розвитком кардіопатії у усіх тварин з гіпертрофією, дистрофією і некрозом кардіоміоцитів, морфологічними ознаками склерозу коронарних судин, строми міокарда, ендокарда та клапанів серця, проліферацією судинного ендотелію, яка має дисперсійні й прямі кореляційні зв'язки зі ступенем лімфомакрофагальної інфільтрації інтерстицію, периваскулярною і клапанною гістіоцитарною клітинною інфільтрацією, а характер ушкоджень ендотелію судин щільно пов'язаний з наявністю в стромі міокарда хмарних клітин, визначається некрозом ендокарда та колагенолізом клапанів, зменшенням лімфоїдної тканини в селезінці, а також клітин в мозковому шарі і телець Гассаля в тимусі.Висновки. При експериментальній вовчаковій кардіопатії спостерігається закономірне ураження усіх структур серця, причому в їх патогенетичних побудовах беруть участь імунні порушення, на що вказують ушкодження відповідних структур імунокомпетентних органів – тимусу і селезінки.
ВАРІАБЕЛЬНІСТЬ СЕРЦЕВОГО РИТМУ ПРИ ХРОНІЧНІЙ СЕРЦЕВІЙ НЕДОСТАТНОСТІ ЗІ ЗБЕРЕЖЕНОЮ ФРАКЦІЄЮ ВИКИДУ
Authors: Andreieva I. O. , Myrnyi D. P.
Published: June 2018

Серцева недостатність залишається основною причиною передчасної смерті та низької якості життя у пацієнтів з різними кардіоваскулярних захворюваньМета дослідження: дослідити зміни варіабельності серцевого ритму у хворих з серцевою недостатністю зі збереженою фракцією викиду.Матеріали і методи:  Обстежено 98 осіб з СНзЗФВ I-IIA стадії І-ІІ функціональних класів згідно класифікації NYHA (53 чоловіки та 45 жінок) віком від 19 до 66 років. Усім учасникам дослідження проведено загально клінічне обстеження з обов’язковим вимірюванням окружності талії та стегон, ваги та зросту,  ехокардіографія, добове моніторування ЕКГ.Результати. В усіх пацієнтів з СНзЗФВ було зареєстровано зміни ВСР протягом доби і ригідний циркадний ритм ЧСС. Спостерігалось патологічне збільшення спектральних показників VLF, LF, LFN як у денний, так і у нічний час. Достатнього зниження спектральних показників VLF, LF, LFN у нічний час у основній групі не відбувалось. Не фіксувалось достатнього підйому HF та HFN у нічний час на відміну від контрольної групи. Співвідношення LF/HF відповідно було достовірно збільшене у хворих з СНзЗФВ. При кореляційному аналізі встановлено негативний кореляційний зв’язок віку з SDNN (r=−0,336, p<0,05), RMSSD (r=−0,312, p<0,05), рNN50 (r=−0,377, p<0,05), HF (r=−0,418, p<0,05) та позитивний кореляційний зв'язок зі співвідношенням LF/HF (r=0,384, p<0,05). SDNN корелював із час уповільнення кровотоку раннього діастолічного наповнення лівого шлуночка (r=−0,418, p<0,05) та час ізоволюметричного розслаблення (r=−0,436, p<0,05).Висновки. Розвиток хронічної серцевої недостатності зі збереженою фракцією викиду супроводжується зниженням загальною варіабельності серцевого ритму. У хворих з серцевою недостатністю зі збереженою фракцією викиду у порівнянні зі здоровими особами спостерігається зниження тонусу парасимпатичної ланки вегетативної нервової системи і збільшення тонусу симпатичної вегетативної ланки. За результатами однофакторного регресійного аналізу встановлено взаємозв’язок спектрального показника SDNN та часу ізоволюметричного розслаблення.
ОСОБЛИВОСТІ ПЕРЕБІГУ ПНЕВМОНІЙ ПРИ ОНКОЛОГІЧНИХ ЗАХВОРЮВАННЯХ КРОВІ
Authors: Bob A. O. , Khomitska A. I. , Chukur O. O. , Radetska L. V. , Bodnar L. P. , Kvasnitska O. S. , Horodetskyi V. Y.
Published: June 2018

Найчастішими інфекційними ускладненнями при лейкозі є пневмонії, що досить часто є основною причиною смерті цих хворих.Метою роботи було  визначення етіологічного чинника пневмоній у хворих з тяжкими порушеннями імунітету на фоні онкологічних захворювань крові.Матеріал та методи досліджень. Обстежено 124 хворих на пневмонію з онкологічними захворюванями крові. Проводилось мікробіологічне дослідження мокротиння та рідина бронхоальвеолярного лаважа шляхом вивчення нативних мазків із визначенням основних морфологічних типів збудників.Результати досліджень. За результатами мікробіологічних досліджень ймовірні бактеріальні збудники захворювання було визначено в 69,4% випадків. Серед 89 позитивних результатів мікробіологічних досліджень провідними були грамнегативні мікроорганізми, що становили 68,6%. Грампозитивні мікроорганізми були визначені в 26,7% досліджень. Асоціації патогенних мікроогранізмів визначені у 53,3% хворих групи дослідження: з грибковою флорою - 52,4%; асоціації бактерій – 26,7%.Висновки. Проблеми визначення етіологічного чинника пневмонії у хворих з онкологічними захворюваннями крові є актуальними та потребують подальших досліджень для оптимізації лікування та прогнозування перебігу пневмонії.
ЗМІНИ ПОКАЗНИКІВ ЕЛЕКТРОКАРДІОГРАМ ПРИ АДРЕНАЛІНОВО-КАЛЬЦІЄВІЙ МОДЕЛІ УРАЖЕННЯ СЕРЦЯ ЩУРІВ-САМЦІВ ТА ЗАСТОСУВАННІ З МЕТОЮ КОРЕКЦІЇ КВЕРЦЕТИНУ
Authors: Musiienko A. M. , Denefil O. V. , Yarysh Yu. Yu.
Published: June 2018

Вступ. Актуальним завданням сьогодення є дослідження кардіопротекторних засобів при розвитку серцево-судинній патології, одним із яких є кверцетин.Мета дослідження – визначити зміни показників електрокардіограм (ЕКГ) у щурів самців з адреналіново-кальцієвою моделлю ураження міокарда (АКМ) та провести корекцію патологічного процесу кверцетином.Матеріал та методи дослідження. Досліди виконано на щурах-самцях лінії Вістар (контроль, 1 год, 2 год, 24 год, 3, 7, 14, 21, 28 діб АКМ, кверцетин (Кв), 7 діб АКМ + Кв, 14 діб АКМ + Кв, 21 доба АКМ + Кв, 28 діб АКМ + Кв). Для реєстрації і аналізу ЕКГ використано пристрій “Кардіолаб”.Результати. У групі 28 діб АКМ летальність була 16,67 %, у групі 28 діб АКМ + Кв – 8,33 %. Протягом всього експерименту у тварин зберігається брадікардія. Через 2 години подовжується інтервал PQ, відхилення сегменту ST відносно ізолінії стають суттєвими, знижується амплітуда зубця Р. Через 24 години з’являються високі загострені зубці Т. Через 3 доби – подовження інтервалів PQ, QTc, низька амплітуда зубця Р. Через 7 діб – подовження інтервалу QTc, збільшення амплітуди зубців R, Т, відхилення сегменту ST. Через 14 діб подовжуються тривалості інтервалів PQ, QTc, достовірнi відхилення сегменту ST відносно ізолінії. Через 21 добу – подовжені тривалості інтервалів PQ, QTc, зменшується амплітуда зубця Т.Кверцетин має протекторний вплив вже через 7 днів після введення.Висновки. Уведення адреналіну гідротартрату і глюконату кальцію щурам призводить до змін на ЕКГ хвилеподібного характеру. Кверцетин має протекторний вплив на розвиток адреналіново-кальцієвого ураження серця щурів.
СОНОГРАФІЧНА ДІАГНОСТИКА ДИСПЛАЗІЇ КУЛЬШОВИХ СУГЛОБІВ У ДІТЕЙ ДО 1 РОКУ
Authors: Marchenkova N. O.
Published: June 2018

Наведений аналіз результатів сонографічного обстеження кульшових суглобів 127 дітей віком до 1 року. З’ясовані переваги стандартної методики ультразвукового обстеження кульшового суглобу: ефективність з перших днів життя дитини, можливість динамічного обстеження, доцільність моніторингу зокрема для виявлення вторинної дисплазії кульшових суглобів.
ЕМПАТІЯ У ПРОФЕСІЙНІЙ ДІЯЛЬНОСТІ МЕДИЧНИХ СЕСТЕР
Authors: Pavlyuk T. V. , Tolokova T. I.
Published: June 2018

У статті наведено основні напрямки досліджень емпатії в медсестринській діяльності. Розглянуто емпатію як важливу якість у роботі медичної сестри. Аргументовано проблему емпатії як стабільної особистісної характеристики медсестри. Досліджено аспекти емпатійної комунікації медсестер.
ВИПАДОК ФАКОМАТОЗУ В ДИТИНИ
Authors: Boiarchuk O. R. , Protsailo M. D. , Yarema N. M.
Published: June 2018

У статті описано клінічний випадок рідкісного синдрому Кліппеля – Треноне – Вебера, який належить до уроджених судинних захворювань – факоматозів. Незважаючи на дані літератури, клінічні прояви цього захворювання викликають великі труднощі щодо своєчасного його розпізнавання та лікування. У статті також описано основні клініко-морфологічні ознаки синдрому. Наведений клінічний приклад підтверджує описані при цьому захворюванні множинні ураження судин, шкіри, м’язової тканини, кісток. Патологічні зміни гіпофіза, виявлені в пацієнта при магнітно-резонансній томографії, очевидно, також мають уроджений характер і генетично зумовлені. Унікальність описаного випадку полягає в тому, що судинні прояви локалізовані на правій руці, а кісткові зміни – на протилежній, що не характерно для даного синдрому. Судинні прояви мати помітила чотири роки тому, з маленької плямки вони розрослися по всій руці, частково захопивши шию та грудну клітку, що є ознакою злоякісного перебігу захворювання.
ХАРАКТЕРИСТИКА ПСИХОЕМОЦІЙНОГО СТАТУСУ ТА ПОКАЗНИКІВ ЯКОСТІ ЖИТТЯ В ЖІНОК ІЗ ФІБРОМІОМОЮ МАТКИ ТА ПОЄДНАНОЮ ЕНДОКРИННОЮ ПАТОЛОГІЄЮ
Authors: Isniuk N. O. , Boichuk A. B. , Behosh B. M. , Onyskiv B. O.
Published: June 2018

Мета дослідження – оцінити психоемоційний статус і показники якості життя в жінок із фіброміомою матки та поєднаною дисфункцією щитоподібної залози.Матеріали та методи. Шляхом анкетування за допомогою психологічних методик проведено обстеження 35 жінок (основна група) та 20 практично здорових жінок репродуктивного віку.Результати дослідження та їх обговорення. У жінок основної групи показники психоемоційних розладів були більш вираженими, ніж у контрольній групі. Відмічено переважання депресивних симптомів різного ступеня вираженості та емоційної лабільності. Згідно з наведеними результатами оцінювання показників якості життя, слід відзначити, що 55,5 % осіб контрольної групи характеризують якість свого життя як високу, тоді як в основній групі подібну характеристику навели лише 5 % пацієнток.Висновки. Наявність поєднаних дисгормональних процесів різної локалізації негативно впливає як на психоемоційний стан, так і на якість життя жінок у всіх її сферах. Отже, вибір методу лікування даної категорії пацієнтів вимагає також індивідуальної психотерапевтичної реабілітації у зв’язку з їх вирaженою емоційною лaбільністю та низькою стресостійкістю.