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https://www.readbyqxmd.com/read/27910071/pi3k-pten-akt-genetic-mouse-models-of-endometrial-carcinoma
#1
Ayesha Joshi, Lora Hedrick Ellenson
The PI3K/PTEN/AKT pathway is the most frequently mutated pathway in endometrial carcinoma. Mouse models are invaluable tools to understand, at the molecular level, the contributions of components of this pathway towards initiation and progression of endometrial carcinoma. This chapter summarizes results of germline and tissue specific knockout mouse models generated to understand how mutations in components of this pathway lead to development of carcinoma and its interactions with other frequently altered pathways like mismatch repair and estrogen signaling...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27905124/assessment-of-early-atherosclerosis-and-left-ventricular-dysfunction-in-children-with-21-hydroxylase-deficiency
#2
Rahmi Özdemir, Hüseyin Anil Korkmaz, Mehmet Küçük, Cem Karadeniz, Timur Meşe, Behzat Özkan
AIM: We analysed 25 children with 21-hydroxylase deficiency who received glucocorticoid and/or mineralocorticoid treatment for at least 12 months to determine the effects of the disease and its treatment on vascular structures and ventricular function. METHODS: Twenty-five patients with 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) and 25 control subjects were enrolled into this observational, cross-sectional study. The patients were investigated in terms of fasting blood glucose and insulin; fasting serum lipid profile; serum 17-hydroxyprogesterone; dehydroepiandrosterone sulphate; androstenedione; and adrenocorticotropic hormone...
November 7, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27903429/polyhydroxyalkanoate-as-a-slow-release-carbon-source-for-in-situ-bioremediation-of-contaminated-aquifers-from-laboratory-investigation-to-pilot-scale-testing-in-the-field
#3
Lucia Pierro, Bruna Matturro, Simona Rossetti, Marco Sagliaschi, Salvatore Sucato, Eduard Alesi, Ernst Bartsch, Firoozeh Arjmand, Marco Petrangeli Papini
A pilot-scale study aiming to evaluate the potential use of poly-3-hydroxy-butyrate (PHB) as an electron donor source for in situ bioremediation of chlorinated hydrocarbons in groundwater was conducted. Compared with commercially available electron donors, PHB offers a restricted fermentation pathway (i.e., through acetic acid and molecular hydrogen) by avoiding the formation of any residual carbon that could potentially spoil groundwater quality. The pilot study was carried out at an industrial site in Italy, heavily contaminated by different chlorinated aliphatic hydrocarbons (CAHs)...
November 27, 2016: New Biotechnology
https://www.readbyqxmd.com/read/27901643/bilateral-testicular-tumors-resulting-in-recurrent-cushing-s-syndrome-after-bilateral-adrenalectomy
#4
Troy Puar, Manon Engels, Antonius E van Herwaarden, Fred C G J Sweep, Christina Hulsbergen-van de Kaa, Karin Kamphuis-van Ulzen, Vasileios Chortis, Wiebke Arlt, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten, Ad R M M Hermus
CONTEXT: Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing's disease is extremely rare. PATIENT: We present a rare case of a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing's disease with complete clinical resolution. Cushingoid features recurred 12 years later, along with bilateral testicular enlargement. Hormonal tests confirmed ACTH-dependent Cushing's. Surgical resection of the testicular tumors led to clinical and biochemical remission...
November 30, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27900477/the-influence-of-seasonality-and-manufacturer-kit-lot-changes-on-17%C3%AE-hydroxyprogesterone-measurements-and-referral-rates-of-congenital-adrenal-hyperplasia-in-newborns
#5
Melissa Pearce, Erin Dauerer, A Gregory DiRienzo, Michele Caggana, Norma P Tavakoli
: Newborn screening for congenital adrenal hyperplasia (CAH) is performed by measuring the concentration of 17α-hydroxyprogesterone (17-OHP) in dried blood spots. Unfortunately, the level of 17-OHP varies due to multiple factors, and therefore, the false positive rate for the test is a challenge. We analyzed screening data from 2007 to 2015 to determine the effect of seasonal changes and manufacturer kit lot changes on 17-OHP values and on numbers of infants referred. Data from screening 2...
November 29, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27898585/growth-and-development-in-children-with-classic-congenital-adrenal-hyperplasia
#6
Walter Bonfig
PURPOSE OF REVIEW: Final height outcome in classic congenital adrenal hyperplasia (CAH) has been of interest for many years. With analysis of growth patterns and used glucocorticoid regimens, enhanced treatment strategies have been developed and are still under development. RECENT FINDINGS: Most of the current reports on final height outcome are confirmative of previous results. Final height data is still reported in cohorts that were diagnosed clinically and not by newborn screening...
November 24, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27890570/the-spectrum-of-cyp21a2-mutations-in-congenital-adrenal-hyperplasia-in-an-indian-cohort
#7
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad
Congenital Adrenal Hyperplasia (CAH) is a common autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to mutations in CYP21A2 gene. The incidence of mutations in the CYP21A2 gene and the genotype-phenotype correlations vary among different populations. Therefore, the aim of the study was to establish the spectrum of mutations and to evaluate genotype-phenotype correlation in Indian CAH population. Molecular defects were investigated in 110 alleles (55 patients) in the present study...
November 25, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27889492/surgical-complications-following-early-genitourinary-reconstructive-surgery-for-congenital-adrenal-hyperplasia-interim-analysis-at-6-years
#8
Pankaj Dangle, Andy Lee, Rajeev Chaudhry, Francis X Schneck
OBJECTIVE: To review the intermediate to long-term surgical complications following feminizing reconstructive surgery for patients with congenital adrenal hyperplasia (CAH), at a single tertiary center. Genitourinary reconstructive surgery is pivotal for favorable cosmetic and functional outcome for patients with CAH. MATERIAL AND METHODS: We conducted a retrospective review identifying 26 patients from April 2003 to April 2015 who underwent genitourinary reconstructive surgeries...
November 23, 2016: Urology
https://www.readbyqxmd.com/read/27886537/bioelectrochemical-approach-for-reductive-and-oxidative-dechlorination-of-chlorinated-aliphatic-hydrocarbons-cahs
#9
Agnese Lai, Federico Aulenta, Marina Mingazzini, Maria Teresa Palumbo, Marco Petrangeli Papini, Roberta Verdini, Mauro Majone
A sequential reductive-oxidative treatment was developed in this study in a continuous-flow bioelectrochemical reactor to address bioremediation of groundwater contaminated by trichloroethene (TCE) and less-chlorinated but still harmful intermediates, such as vinyl chloride. In order to optimize the anodic compartment, whereby the oxygen-driven microbial oxidation of TCE-daughter products occurs, abiotic batch experiments were performed with various anode materials poised at +1.20 V vs. SHE (i.e., graphite rods and titanium mesh anode coated with mixed metal oxides (MMO)) and setups (i...
November 22, 2016: Chemosphere
https://www.readbyqxmd.com/read/27868064/shrimp-protein-hydrolysate-modulates-the-timing-of-proinflammatory-macrophages-in-bupivacaine-injured-skeletal-muscles-in-rats
#10
Junio Dort, Nadine Leblanc, Piotr Bryl, Marie-Gil Fortin, Marie-Elise Carbonneau, Charles Lavigne, Hélène Jacques
This study was designed to determine whether marine-derived proteins other than cod could have beneficial effects on inflammation following muscle injury. Macrophage and neutrophil densities were measured from bupivacaine-injured tibialis anterior muscle of rats fed isoenergetic diets containing either shrimp hydrolysate (Shr), casein hydrolysate (CaH), or whole casein (Ca). In this study, Shr reduced ED(1+)-macrophages at day 2 (p = 0.013), day 5 (p = 0.006), and day 14 after injury (p = 0.038) compared with Ca, indicating faster resolution of inflammation in Shr...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27867895/gender-of-rearing-and-psychosocial-aspect-in-46-xx-congenital-adrenal-hyperplasia
#11
Arushi Gangaher, Viveka P Jyotsna, Vasundhera Chauhan, Jomimol John, Manju Mehta
BACKGROUND: In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. MATERIALS AND METHODS: This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27856173/fertility-in-disorders-of-sex-development-a-review
#12
REVIEW
J P Van Batavia, T F Kolon
INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase(™), PubMed(®), and Google Scholar(™) for disordersof sex development and infertility...
November 3, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27855232/novel-scc-mutation-in-a-patient-of-mexican-descent-with-sex-reversal-salt-losing-crisis-and-adrenal-failure
#13
Jasmeet Kaur, Alan M Rice, Elizabeth O'Connor, Anil Piya, Bradley Buckler, Himangshu S Bose
: Congenital adrenal hyperplasia (CAH) is caused by mutations in cytochrome P450 side chain cleavage enzyme (CYP11A1 and old name, SCC). Errors in cholesterol side chain cleavage by the mitochondrial resident CYP11A1 results in an inadequate amount of pregnenolone production. This study was performed to evaluate the cause of salt-losing crisis and possible adrenal failure in a pediatric patient whose mother had a history of two previous stillbirths and loss of another baby within a week of birth...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27852974/growth-curves-for-congenital-adrenal-hyperplasia-from-a-national-retrospective-cohort
#14
Patricia Bretones, Benjamin Riche, Emmanuel Pichot, Michel David, Pascal Roy, Véronique Tardy, Behrouz Kassai, Ségolène Gaillard, Delphine Bernoux, Yves Morel, Pierre Chatelain, Marc Nicolino, Catherine Cornu
BACKGROUND: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients. METHODS: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970-1991 with genetically proven 21-hydroxylase deficiency...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27845856/modified-release-and-conventional-glucocorticoids-and-diurnal-androgen-excretion-in-congenital-adrenal-hyperplasia
#15
Christopher M Jones, Ashwini Mallappa, Nicole Reisch, Nikolaos Nikolaou, Nils Krone, Beverly A Hughes, Donna M O'Neil, Martin J Whitaker, Jeremy W Tomlinson, Karl-Heinz Storbeck, Deborah P Merke, Richard J Ross, Wiebke Arlt
CONTEXT: The classic androgen synthesis pathway proceeds via DHEA, androstenedione and testosterone to 5α-dihydrotestosterone (DHT). However, DHT synthesis can also be achieved by an alternative pathway originating from 17α-hydroxyprogesterone (17OHP), which accumulates in congenital adrenal hyperplasia (CAH). Similarly, recent work has highlighted androstenedione-derived 11-oxygenated 19-carbon steroids as active androgens and, in CAH, androstenedione is generated directly from 17OHP...
November 15, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27834005/figo-stage-iiic-endometrial-cancer-identification-among-patients-with-complex-atypical-hyperplasia-grade-1-and-2-endometrioid-endometrial-cancer-laparoscopic-indocyanine-green-sentinel-lymph-node-mapping-versus-frozen-section-of-the-uterus-why-get-around-the
#16
Andrea Papadia, Maria Luisa Gasparri, Franziska Siegenthaler, Sara Imboden, Stefan Mohr, Michael D Mueller
PURPOSE: To compare two surgical strategies used to identify lymph node metastases in patients with preoperative diagnosis of complex atypical hyperplasia (CAH), grade 1 and 2 endometrial cancer (EC). METHODS: Data on patients with preoperative diagnosis of CAH, grade 1 and 2 EC undergoing laparoscopic indocyanine green (ICG) sentinel lymph node (SLN) mapping followed by frozen section of the uterus were collected. When risk factors were identified at frozen section, patients were subjected to a systematic lymphadenectomy...
November 11, 2016: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/27833904/surgical-treatment-after-failed-primary-correction-of-urogenital-sinus-in-female-patients-with-virilizing-congenital-adrenal-hyperplasia-are-good-results-possible
#17
Maria Helena Palma Sircili, Tania Sartori Sanchez Bachega, Guiomar Madureira, Larissa Gomes, Berenice Bilharinho Mendonca, Francisco Tibor Dénes
PURPOSE: Genital reconstruction in female patients with virilizing congenital adrenal hyperplasia (CAH) is very challenging. Our aim was to evaluate the techniques employed to treat complications after failure of primary urogenital sinus (UGS) surgery, as well as the result of these reoperations. PATIENTS AND METHODS: Twenty girls with virilizing CAH who were previously submitted to genitoplasty in our service and elsewhere had recurrent UGS stenosis and vaginal introitus stenosis that required surgical treatment...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27832511/communication-about-congenital-adrenal-hyperplasia-perspective-of-filipino-families
#18
Peter James B Abad, Cora A Anonuevo, Sandra Daack-Hirsch, Lorna R Abad, Carmencita D Padilla, Mercy Y Laurino
Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed...
November 10, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27821980/newborn-screening-for-congenital-adrenal-hyperplasia-in-india-what-do-we-need-to-watch-out-for
#19
R Kishore Kumar, Hari Das, Prakash Kini
BACKGROUND: Congenital Adrenal Hyperplasia (CAH) is a disorder-an ideal candidate to deserve newborn screening. CAH accounts for a significant mortality and morbidity in India, and its awareness among obstetricians should be treated as highly important to prevent the problem. PURPOSE OF THE STUDY: It is very important for a country like India as the incidence of CAH is reasonably high justifying screening program. However, there are simple logistics that need to be followed, and the treating physicians need to be aware of, if one has to reduce the number of false positives and recalls...
December 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27821898/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency-description-of-a-new-mutation-r384x
#20
Audrey Mary Matallana-Rhoades, Juan David Corredor-Castro, Francisco Javier Bonilla-Escobar, Bony Valentina Mecias-Cruz, Liliana Mejia de Beldjena
CASE DESCRIPTION: It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase. CLINICAL FINDINGS: Severe virilization, peripheral hypertension, and early puberty. TREATMENT AND OUTCOME: Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension...
September 30, 2016: Colombia Médica: CM
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