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https://www.readbyqxmd.com/read/28098151/juvenile-myelomonocytic-leukemia-associated-variants-are-associated-with-neo-natal-lethal-noonan-syndrome
#1
Heather Mason-Suares, Diana Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E Mullen, Matthew S Lebo
Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML. Studies comparing these variants suggest a stronger gain-of-function activity in the JMML variants. As JMML variants have not been identified as germline defects and have a greater impact on protein function, it has been speculated that they would be embryonic lethal...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28066993/developing-a-biomimetic-tooth-bud-model
#2
Elizabeth E Smith, Weibo Zhang, Nathan R Schiele, Ali Khademhosseini, Catherine K Kuo, Pamela C Yelick
A long-term goal is to bioengineer, fully functional, living teeth for regenerative medicine and dentistry applications. Biologically based replacement teeth would avoid insufficiencies of the currently used dental implants. Using natural tooth development as a guide, a model was fabricated using post-natal porcine dental epithelial (pDE), porcine dental mesenchymal (pDM) progenitor cells, and human umbilical vein endothelial cells (HUVEC) encapsulated within gelatin methacrylate (GelMA) hydrogels. Previous publications have shown that post-natal DE and DM cells seeded onto synthetic scaffolds exhibited mineralized tooth crowns composed of dentin and enamel...
January 8, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/27967605/early-developmental-disruption-of-type-2-deiodinase-pathway-in-mouse-skeletal-muscle-does-not-impair-muscle-function
#3
Danielle Leao Ignacio, Diego Henrique Silvestre, Elena Palmer, Barbara Bocco, Tatiana Fonseca, Balazs Gereben, Miriam Ribeiro, Antonio Carlos Bianco, Joao Pedro Werneck de Castro
BACKGROUND: Myogenesis is positively regulated by thyroid hormone (T3), which is amplified by the type 2 deiodinase (D2) activation of T4-to-T3. Global inactivation of Dio2 gene impairs skel-etal muscle (SKM) differentiation and regeneration in response to muscle injury. Given that new-born and adult mice with late developmental SKM Dio2 disruption do not develop a significant phenotype, we hypothesized that D2 plays an early role in this process. METHODS: This was tested in mice with SKM disruption of Dio2 driven by two early develop-mental promoters, i...
December 14, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27412693/fetal-and-neonatal-maxillary-ontogeny-in-extant-humans-and-the-utility-of-prenatal-maxillary-morphology-in-predicting-ancestral-affiliation
#4
Christina L Nicholas
OBJECTIVES: The midface of extant Homo sapiens is known to undergo shape changes through fetal and neo-natal ontogeny; however, little work has been done to quantify these shape changes. Further, while midfacial traits which vary in frequency between populations of extant humans are presumed to develop prenatally, patterns of population-specific variation maxillary shape across ontogeny are not well documented. Only one study of fetal ontogeny which included specific discussion of the midface has taken a three-dimensional geometric morphometric approach, and that study was limited to one population (Japanese)...
November 2016: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/27068240/adverse-pregnancy-and-neo-natal-outcomes-after-assisted-reproductive-treatment-in-patients-with-pelvic-endometriosis-a-case-control-study
#5
Marianne Jacques, Thomas Freour, Paul Barriere, Stéphane Ploteau
To assess the impact of endometriosis on obstetric outcomes and to determine whether the severity, location and surgical treatment of the disease before the pregnancy had an impact on the prevalence of these disorders, a monocentric, case-control study was performed. In total, 113 pregnancies obtained by assisted reproductive treatment among patients with endometriosis were matched with control selected among assisted reproductive treatment pregnancies due to male infertility. The main result measures were pregnancy outcome at the obstetrical and neo-natal levels...
June 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/26877350/p-053-incidence-of-prematurity-in-the-hellp-syndrome
#6
S Zelmat, F Mazour, D D Atouche
OBJECTIFS: Hémolysis, Elevated Liver enzyme, Löw Platelets ou HELLP Syndrome est une complication de la pré-éclampsie dans 10 à 20 %. Le HELLP Syndrome n'a pas d'influence sur la morbidité néonatale. Les complications sont essentiellement imputables à la prématurité induite. La mortalité périnatale est évaluée à 22,6 %. Le but de cette étude est d'étudier l'incidence de la prématurité dans le HELLP Syndrome. MéTHODES: Étude prospective mono-centrique réalisée au Service de Gynéco-Obstetrique de EHUO...
December 2015: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/26687905/the-impact-of-physiological-oxygen-during-culture-and-vitrification-for-cryopreservation-on-the-outcome-of-extended-culture-in-human-ivf
#7
David K Gardner
Extended culture has facilitated the move to single blastocyst transfer, resulting in significant increases in implantation and live birth rate, while concomitantly reducing fetal loss during pregnancy. However, concerns have been raised regarding subsequent neo-natal outcomes following extended culture. Analysis of the literature reveals differences in outcomes according to geographical region and between individual clinics. A common factor amongst reports of potentially adverse outcomes following blastocyst transfer appears to be that atmospheric (~20%) oxygen was typically employed for embryo culture...
February 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/26634939/the-differential-diagnosis-of-thrombocytopenia-in-pregnancy
#8
REVIEW
Frauke Bergmann, Werner Rath
BACKGROUND: Thrombocytopenia is, after anemia, the second most common abnormality of the complete blood count in pregnancy, with a reported frequency of 6.6% to 11.2%. It has many causes. Thrombocytopenia should be diagnostically evaluated as early as possible in pregnancy, so that the obstetrical management can be accordingly planned to minimize harm to the mother and child. As the various underlying diseases share clinical features and laboratory findings, the differential diagnosis is often a difficult interdisciplinary challenge...
November 20, 2015: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/26363451/impact-of-hospital-delivery-on-child-mortality-an-analysis-of-adolescent-mothers-in-bangladesh
#9
Sarmistha Pal
New medical inventions for saving young lives are not enough if these do not reach the children and the mother. The present paper provides new evidence that institutional delivery can significantly lower child mortality risks, because it ensures effective and timely access to modern diagnostics and medical treatments to save lives. We exploit the exogenous variation in community's access to local health facilities (both traditional and modern) before and after the completion of the 'Women's Health Project' in 2005 (that enhanced emergency obstetric care in women friendly environment) to identify the causal effect of hospital delivery on various mortality rates among children...
October 2015: Social Science & Medicine
https://www.readbyqxmd.com/read/26238925/-defi-alpha-cohort-and-polygen-defi-alpha-clinical-research-hospital-programme-a-study-about-clinical-biological-and-genetics-factors-associated-with-the-occurrence-and-the-evolution-of-hepatic-complications-in-children-with-alpha-1-antitrypsin-deficiency
#10
P Joly, L Restier, M Bouchecareilh, P Lacan, F Cabet, C Chapuis-Cellier, A Francina, A Lachaux
INTRODUCTION: The alpha-1 antitrypsin (α1-AT) deficiency, most frequently caused by homozygosity for the Z variant (SERPINA1: c.1096 G>A; Glu342Lys), can give rise to two clinical patterns: (i) respiratory impairment with emphysema (mainly in adulthood) because of a pulmonary quantitative defect in anti-elastase activity; (ii) hepatic impairment (mainly in childhood) due to the misfolding of the PiZ protein which accumulates in hepatocytes thus providing cytotoxicity. CURRENT KNOWLEDGE: To date, the clinical and genetic factors responsible for the development of major hepatic injuries (fibrosis and portal hypertension) during childhood in PiZ patients are not known...
September 2015: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/26218951/prescription-opioid-use-harms-and-interventions-in-canada-a-review-update-of-new-developments-and-findings-since-2010
#11
REVIEW
Yoko Murphy, Elliot M Goldner, Benedikt Fischer
BACKGROUND: Canada has featured the second-highest levels of prescription opioid (PO) use globally behind the United States, and reported extensive PO-related harms (e.g., non-medical PO use [NMPOU], PO-related morbidity and mortality). A recent comprehensive review synthesized key data on PO use, PO-related harms, and interventions in Canada, yet a substantive extent of new studies and data have emerged. OBJECTIVE: To conduct and present a comprehensive review update on PO use, PO-related harms, and interventions in Canada since 2010...
July 2015: Pain Physician
https://www.readbyqxmd.com/read/26111512/sarcomatoid-carcinoma-of-the-lung-a-rare-case-of-three-small-intestinal-intussusceptions-and-literature-review
#12
Angela Romano, Michele Grassia, Amalia Rosaria Rita Rossetti, Giuseppe Esposito, Bartolomeo Braccio, Modestino Pezzella, Francesco Torelli, Giuseppe Izzo, Roberto Alfano, Natale Di Martino
INTRODUCTION: Sarcomatoid carcinoma is an extremely rare, biphasic tumor characterized by a combination of malignant epithelial and mesenchymal cells. Limited data showed that most cases occurred with advanced local disease and metastasis. PRESENTATION OF CASE: We present a rare case of a 60-year-old man with three small intestinal intussusceptions due to metastatic pulmonary carcinosarcoma. He was explored for chest pain and hemoptysis in Emergency room. Due to his chest symptoms he had a computed tomography (CT) scan of the chest which showed a lesion about 60mm in diameter in the inferior lobe of the left lung...
2015: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/26062979/dramatic-reduction-in-hepatitis-b-through-school-based-immunization-without-a-routine-infant-program-in-a-low-endemicity-region
#13
Teegwendé Valérie Porgo, Vladimir Gilca, Gaston De Serres, Michèle Tremblay, Danuta Skowronski
BACKGROUND: Hepatitis B (HB) prevention in the low-endemicity province of Quebec Canada, (population: ~8.2 million; birth cohort ~85,000/year), includes two decades of pre-adolescent school-based immunization, as well as catch-up immunization for those born since 1983 and pre-natal maternal HBsAg screening. To estimate the potential added benefit of routine infant HB immunization, notifiable disease reports were analyzed (1990-2013). Clinical and demographic information about cases was retrieved from standard questionnaires used by local public health units to investigate HB cases...
2015: BMC Infectious Diseases
https://www.readbyqxmd.com/read/25991713/necromechanics-death-induced-changes-in-the-mechanical-properties-of-human-tissues
#14
Pedro A L S Martins, Francisca Ferreira, Renato Natal Jorge, Marco Parente, Agostinho Santos
After the death phenomenon, the rigor mortis development, characterized by body stiffening, is one of the most evident changes that occur in the body. In this work, the development of rigor mortis was assessed using a skinfold caliper in human cadavers and in live people to measure the deformation in the biceps brachii muscle in response to the force applied by the device. Additionally, to simulate the measurements with the finite element method, a two-dimensional model of an arm section was used. As a result of the experimental procedure, a decrease in deformation with increasing postmortem time was observed, which corresponds to an increase in rigidity...
May 2015: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/25954618/comparative-study-in-early-neonates-with-septicemia-by-blood-culture-staining-techniques-and-c-reactive-protein-crp
#15
V Dhanalakshmi, E Suguna Sivakumar
AIM: The aim of this study was to compare and evaluate the pathogenic bacteria in neo-natal septicemia by using various diagnostic techniques. SETTING AND DESIGN: Our study was designed to evaluate a feasible method to diagnose neonatal septicemia even at primary health centre level. MATERIALS AND METHODS: Blood samples were collected aseptically from 70 neonates. The specimens were inoculated into brain heart infusion broth and subcultures were performed with specific media...
March 2015: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/25377332/who-died-of-what-in-rural-kwazulu-natal-south-africa-a-cause-of-death-analysis-using-interva-4
#16
Joël Mossong, Peter Byass, Kobus Herbst
BACKGROUND: For public health purposes, it is important to see whether men and women in different age groups die of the same causes in South Africa. OBJECTIVE: We explored sex- and age-specific patterns of causes of deaths in a rural demographic surveillance site in northern KwaZulu-Natal in South Africa over the period 2000-2011. DESIGN: Deaths reported through the demographic surveillance were followed up by a verbal autopsy (VA) interview using a standardised questionnaire...
2014: Global Health Action
https://www.readbyqxmd.com/read/25356019/clinical-management-of-advanced-gastric-cancer-the-role-of-new-molecular-drugs
#17
REVIEW
Ferdinando De Vita, Natale Di Martino, Alessio Fabozzi, Maria Maddalena Laterza, Jole Ventriglia, Beatrice Savastano, Angelica Petrillo, Valentina Gambardella, Vincenzo Sforza, Luigi Marano, Annamaria Auricchio, Gennaro Galizia, Fortunato Ciardiello, Michele Orditura
Gastric cancer is the fourth most common malignant neoplasm and the second leading cause of death for cancer in Western countries with more than 20000 new cases yearly diagnosed in the United States. Surgery represents the main approach for this disease but, notwithstanding the advances in surgical techniques, we observed a minimal improvement in terms of overall survival with a significant increasing of relapsing disease rates. Despite the development of new drugs has significantly improved the effectiveness of chemotherapy, the prognosis of patients with unresectable or metastatic gastric adenocarcinoma remains poor...
October 28, 2014: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/25219038/-the-medical-demographic-situation-in-the-republic-of-altai
#18
L F Pisareva, I N Odintsova, O A Ananina, A V Khriyapenkov, E E Doctorova
The demographic situation impacts the level of morbidity indirectly. The evaluation of demographic situation if the Republic of Altai was made. In 2010, in the ethnic structure of population the percentage of Russians reduced up to 55.7% and of indigenous population increased up to 35.3%. In the Republic positive dynamics of population size is preserved. More than 3/5 of population live in rural territories. The main factor of increase of population size is its natural growth (11 per 1000 of population). The high level of natal V...
May 2014: Problemy Sot︠s︡ialʹnoĭ Gigieny, Zdravookhranenii︠a︡ i Istorii Medit︠s︡iny
https://www.readbyqxmd.com/read/25175815/postnatal-notch1-activation-induces-t%C3%A2-cell-malignancy-in-conditional-and-inducible-mouse-models
#19
Ju Liu, Fengyun Dong, Iris Fung, Edwin Chen, Thaddeus D Allen, Urban Deutsch, Corrinne G Lobe
The Notch1 signaling pathway is essential for hematopoietic development. However, the effects of postnatal activation of Notch1 signaling on hematopoietic system is not yet fully understood. We previously generated ZEG‑IC‑Notch1 transgenic mice that have a floxed β‑geo/stop signal between a CMV promoter and intracellular domain of Notch1 (IC‑Notch1). Constitutively active IC‑Notch1 is silent until the introduction of Cre recombinase. In this study, endothelial/hematopoietic specific expression of IC‑Notch1 in double transgenic ZEG‑IC‑Notch1/Tie2‑Cre embryos induced embryonic lethality at E9...
November 2014: International Journal of Oncology
https://www.readbyqxmd.com/read/25021079/pmm-81%C3%A2-conservative-management-of-spontaneous-bilateral-adrenal-haemorrhages-in-pregnancy
#20
L Ismail, H Annamraju, J Hall
INTRODUCTION: Spontaneous adrenal haemorrhage is a very rare condition. To date there have been only 13 reported cases associated with pregnancy. CASE HISTORY: A 29 year old para 2+5 presented at 38 weeks gestation with severe right loin pain. She had an otherwise uneventful pregnancy, and no significant medical history. Her observations were normal and urine dipstick was clear. She had marked right renal angle tenderness and a high CRP. She was started on empirical antibiotics for suspected pyelonephritis, and regular opiates for analgesia...
June 2014: Archives of Disease in Childhood. Fetal and Neonatal Edition
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