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https://www.readbyqxmd.com/read/29909741/long-term-follow-up-of-a-female-patient-with-non-classical-11%C3%AE-hydroxylase-deficiency-and-two-novel-mutations-in-cyp11b1
#1
Sabina Zacharieva, Ralitsa Robeva, Silvia Andonova, Radoslava Vazharova, Lubomir Balabanski, Maya Atanasoska, Draga Toncheva, Atanaska Elenkova, Alexey Savov
11β-Hydroxylase deficiency is the second most common enzyme disorder after 21-hydroxylase deficiency causing congenital adrenal hyperplasia (CAH11β ). In females, the clinical phenotype of CAH11β classic forms is associated with ambiguous genitalia, virilization and hypertension, while most common complaints in milder non-classic forms include hirsutism, acne, menstrual disturbances, and infertility. Herein, we present clinical and genetic characteristics of an adult woman with 11β-hydroxylase deficiency, hypertension and infertility; she has been followed up from her first pregnancy to her early menopause...
June 17, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29906034/schmidt%C3%A2-s-syndrome-a-difficult-diagnosis-in-the-latin-american-context
#2
Claudia Barreda-Velit, Rodrigo Salcedo-Pereda, Jesús Ticona
Background: Schmidt’s syndrome, also known as poliglandular autoimmune syndrome type 2, is a rare disease that has a prevalence between 1.5-4.5 cases per 100 000 inhabitants. The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The aim of this paper is to describe a case of Schmidt’s syndrome in the peruvian context and to analyze the difficulties in the diagnosis. Clinical case: We present the case of a 43-year-old woman that presents to the emergency room with headache, nausea, vomits and a “syncope episode”...
March 2018: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29874662/increased-susceptibility-to-allergic-asthma-with-the-impairment-of-respiratory-tolerance-caused-by-psychological-stress
#3
Tasuku Kawano, Ryusuke Ouchi, Takahiro Ishigaki, Chiaki Masuda, Tomomitsu Miyasaka, Yuichi Ohkawara, Nobuo Ohta, Motoaki Takayanagi, Tomoko Takahashi, Isao Ohno
BACKGROUND: Bronchial asthma is characterized by type 2 T helper (Th2) cell inflammation, essentially due to a breakdown of immune tolerance to harmless environmental allergens. Etiologically, experiences of psychological stress can be associated with a heightened prevalence of asthma. However, the mechanisms underlying stress-related asthma development are unclear. In this study, we examined whether psychological stress increases susceptibility to allergic asthma by downregulating immune tolerance...
June 6, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29804624/functional-adrenal-cortex-preservation-a-good-reason-for-posterior-retroperitoneal-endoscopic-approach
#4
Óscar Vidal, Eduardo Delgado-Oliver, Rafael Díaz Del Gobbo, Felicia Hanzu, Mattia Squarcia, Daniel Martínez, David Fuster, Constantino Fondevila
INTRODUCTION: Cortical-sparing adrenalectomy is a suitable treatment for hereditary and sporadic bilateral pheochromocytoma, in cases of low risk of malignancy, to reduce the possibility of adrenal insufficiency assuming the chance of local recurrence. The aim of the study is to analyze the functional results of partial adrenalectomy by retroperitoneal endoscopic approach in single-adrenal patients or patients requiring bilateral adrenalectomy. METHODS: Prospective study between January 2015 and February 2016 including pheochromocytoma patients diagnosed with low risk of malignant mutations...
May 24, 2018: Cirugía Española
https://www.readbyqxmd.com/read/29803210/oncocytic-thyroid-carcinoma-and-multiple-sclerosis-fortuitous-or-drug-related-association
#5
Adriana Handra-Luca, Francesco Bacci
Sir, Thyroid tumors occur rarely as associated to nervous system diseases. We had recently studied a case of thyroid carcinoma, peculiar by the predominant eosinophilic/oncocytic/oxyphil/Hurthle cell-component associated to multiple sclerosis (MS). The patient (man, 31-years old) presented with hair loss, diarrhea, thermophobia, tremor and tachycardia. The medical history revealed allergy (pollen, prawn), recurrent uveitis and optic nevritis (at the age of 12-years). A Behcet disease was suspected. Corticoid treatment was given for more than 6 years...
March 27, 2018: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29788546/in-vitro-penetration-through-the-skin-layers-of-topically-applied-glucocorticoids
#6
Victor Carrer, Cristina Alonso, Marc Adrià Oliver, Luisa Coderch
Corticoids are actives widely used in the treatment of skin diseases. This work aims to study the penetration of three corticoids (betamethasone, clobetasol and flurandrenolide), their relationship with their Log D values and the effects of the vehicles. The three compounds were applied on a Franz-type diffusion cell in propylene glycol solution and their respective commercial creams and ointments. The active amounts found in the stratum corneum, epidermal and dermal layers of the skin were investigated. Their diffusions were greatly affected by the formulation, moreover higher amounts of substance in the epidermis and dermis were detected in ointments than in creams...
May 22, 2018: Drug Testing and Analysis
https://www.readbyqxmd.com/read/29731582/granuloma-of-the-labial-minor-salivary-glands-in-tuberculosis
#7
Adriana Handra-Luca
Minor salivary gland granuloma is rare in tuberculosis. We present a case of labial minor salivary gland granulomas occurring in the course of tuberculosis along with skin, mediastinal and liver granulomas. The patient (46-year-old man) presented with asthenia, nocturne transpiration, weight loss and compressive thoracic adenopathies. The angiotensin I converting enzyme was elevated as well as calcemia. The QuantiFERON test and culture of a mediastinal specimen were positive for Mycobacterium tuberculosis ...
January 2018: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/29730511/do-mothers-who-are-anxious-during-pregnancy-have-inattentive-children
#8
Blanca Bolea-Alamañac, Simon Jc Davies, Jonathan Evans, Carol Joinson, Rebecca Pearson, Petros Skapinakis, Alan Emond
BACKGROUND: Maternal somatic anxiety during pregnancy may affect neural foetal development via corticoid pathways. Using a large epidemiological cohort, this study explores the relationship between maternal somatic anxiety in pregnancy and child scores on the Test of Everyday Attention in Children (TEA-Ch). METHODS: Linear regression was used to analyse the association of maternal somatic anxiety during pregnancy and performance of children on three subtests of the TEA-Ch at age 8...
April 27, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29721463/trapeziometacarpal-joint-osteoarthritis-a-prospective-trial-on-two-widespread-conservative-therapies
#9
Lorenzo Rocchi, Antonio Merolli, Laura Giordani, Caterina Albensi, Calogero Foti
Introduction: The trapeziometacarpal (TMC) joint osteoarthritis (OA) is at the origin of important secondary functional disability to pinch as well as a painful grip. Several conservative therapies are often considered in the early stages of TMC OA to decrease pain, recover function and slow the evolution of OA. They include massage therapy, heat applications, stretching of the first web span and assisted mobilization of the TMC joint. However, as with other arthritic joints, many physicians often suggest administering intra-articular corticosteroids...
October 2017: Muscles, Ligaments and Tendons Journal
https://www.readbyqxmd.com/read/29709927/effect-of-eplerenone-on-the-glomerular-filtration-rate-gfr-in-primary-aldosteronism-sequential-changes-in-the-gfr-during-preoperative-eplerenone-treatment-to-subsequent-adrenalectomy
#10
Yujiro Nakano, Takanobu Yoshimoto, Tatsuya Fukuda, Masanori Murakami, Ryotaro Bouchi, Isao Minami, Koshi Hashimoto, Yasuhisa Fujii, Kazunori Kihara, Yoshihiro Ogawa
Objective Eplerenone (EPL) is a mineralo-corticoid receptor antagonist that is highly selective and has few side effects. This study was conducted to examine whether or not EPL treatment was able to reverse glomerular hyperfiltration, as an indicator of aldosterone renal action, in primary aldosteronism (PA) patients. Methods Changes in the estimated glomerular filtration rate (ΔGFR) were examined in 102 PA patients with EPL treatment. Furthermore, the sequential ΔGFR in 40 patients initially treated with EPL followed by adrenalectomy was examined in order to evaluate the extent of the remaining glomerular hyperfiltration in the patients treated with EPL...
April 27, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29701415/antiphospholipid-syndrome-and-acute-postpartum-limb-ischemia
#11
Inês Antunes, Carlos Pereira, Rui Machado, Duarte Rego, Vitor Ferreira, João Gonçalves, Gabriela Teixeira, Carlos Veiga, Daniel Mendes, Rui Almeida
INTRODUCTION: The diagnosis of Antiphospholipid syndrome (APS) implies the identification of antiphospoholipid antibodies and arterial/venous thrombosis or pregnancy loss. During pregnancy, there is an increased risk of thrombotic complications. METHODS: Present a case of acute lower limb ischemia in a patient with APS during postpartum period Materials/ Methods: review of a clinical case and available literature Results: Patient diagnosed with APS (triple antibody positive and antecedent of 3 previous abortions) underwent cesarean at 29 weeks of gestation...
July 2017: Revista Portuguesa de Cirurgia Cardio-torácica e Vascular
https://www.readbyqxmd.com/read/29699872/methods-in-endogenous-steroid-profiling-a-comparison-of-gas-chromatography-mass-spectrometry-gc-ms-with-supercritical-fluid-chromatography-tandem-mass-spectrometry-sfc-ms-ms
#12
COMPARATIVE STUDY
Juliane Teubel, Bernhard Wüst, Carola G Schipke, Oliver Peters, Maria Kristina Parr
In various fields of endocrinology, the determination of steroid hormones synthesised by the human body plays an important role. Research on central neurosteroids has been intensified within the last years, as they are discussed as biomarkers for various cognitive disorders. Their concentrations in cerebrospinal fluid (CSF) are considered to be regulated independently from peripheral fluids. For that reason, the challenging matrix CSF becomes a very interesting specimen for analysis. Concentrations are expected to be very low and available amount of CSF is limited...
June 15, 2018: Journal of Chromatography. A
https://www.readbyqxmd.com/read/29664511/bullous-henoch-sch%C3%A3-nlein-purpura-case-report
#13
Trinidad Hasbún, Ximena Chaparro, Viera Kaplan, Felipe Cavagnaro, Alex Castro
Henoch-Schönlein purpura (HSP) or IgA Vasculitis is the most common childhood vasculitis. The classic tetrad of signs and symptoms include palpable purpura, arthralgia, abdominal pain and renal disease. The occurrence of hemorrhagic bullae in children with HSP is rarely encountered. Objec tive: To report an unusual cutaneous manifestation of HSP in children. CASE REPORT: A 14-year-old girl complained about a 2-week painful bullous rash in both lower extremities and multiple arthral gias...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29603827/differences-between-acute-onset-chronic-inflammatory-demyelinating-polyneuropathy-a-cidp-and-acute-inflammatory-demyelinating-polyneuropathy-aidp-in-adult-patients
#14
Lucas Alessandro, José M Pastor Rueda, Miguel Wilken, Luis A Querol Gutiérrez, Mariano Marrodán, Julián N Acosta, Alberto Rivero, Fabio Barroso, Mauricio F Farez
Acute Inflammatory Demyelinating Polyneuropathy (AIDP) and Acute-onset Chronic Inflammatory Demyelinating Polyneuropathy (A-CIDP) are conditions presenting overlapping clinical features during early stages (first 4 weeks), although the latter may progress after 8 weeks. The aim of this study was to identify predictive factors contributing to their differential diagnosis. Clinical records of adult patients with AIDP or A-CIDP diagnosed at our institution between January-2006 and July-2017 were retrospectively reviewed...
March 30, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29595560/spironolactone-as-a-therapeutic-alternative-for-the-bullous-variant-of-central-serous-chorioretinopathy
#15
Eva C Ramos-Yau, Ediberto Muñoz-Domínguez, Silvia P Contreras-Mérida, Luis M Valencia-Londoño
PURPOSE: To report a case of the bullous variant of central serous chorioretinopathy successfully treated with spironolactone, a mineralocorticoid receptor antagonist. METHODS: Case report of a patient including fluorescein angiography, optical coherence tomography, and color fundus photography. RESULTS: Initially managed as a multifocal choroiditis, the use of oral and peribulbar corticoids worsened the serous retinal detachment. Taking in consideration this response, she was then diagnosed with a bullous variant of central serous chorioretinopathy and treated with 50 mg of spironolactone per day...
March 27, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29594223/late-cutaneous-effects-of-a-local-potent-steroid-during-adjuvant-radiotherapy-for-breast-cancer
#16
Eva Ulff, Marianne Maroti, Jörgen Serup, Mats Nilsson, Ursula Falkmer
Purpose: The aim of this study was to evaluate whether treatment with a local potent corticosteroid during adjuvant external radiotherapy (ERT) of breast cancer is associated with late skin toxicity. Material and methods: Sixty patients (32 treated with potent corticoid cream versus 28 controls treated with moisturizer) who had been included in a randomized study on prophylactic local corticosteroid treatment under adjuvant ERT in 2009 and 2010 were subjected to a follow-up study in 2016...
December 2017: Clinical and Translational Radiation Oncology
https://www.readbyqxmd.com/read/29579858/visceral-leishmaniasis-in-renal-transplant-recipients-report-of-2-cases
#17
F Clavijo Sánchez, T Vázquez Sánchez, M Cabello Díaz, V E Sola Moyano, C Jironada Gallego, D Hernández Marrero
Visceral leishmaniasis is a disease caused by the protozoan Leishmania and is transmitted by Lutzomyia longipalpis (sand fly). It is an endemic parasitic infection in numerous areas around the Mediterranean basin. Though immunocompetent patients may not develop the disease, in transplant recipients the use of corticoids and intensified immunosuppressants to prevent graft rejection may accelerate the disease, causing severe damage to the liver, spleen, and hematopoietic system. We report 2 cases of visceral leishmaniasis with an atypical presentation in transplant recipients...
March 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29564593/advances-in-heart-failure-therapy-in-pediatric-patients-with-dilated-cardiomyopathy
#18
REVIEW
Stefan Rupp, Christian Jux
While in adults major advances in heart failure therapy in patients with dilated cardiomyopathy were documented in the last two decades, research on the mechanism and therapies of heart failure in children with left ventricular dilated cardiomyopathy has lagged behind. Despite the lack of sufficient randomized prospective studies, ACE inhibitors are first line and ß-receptor antagonists are second-line strategies in children. Following the adult guidelines, without having data concerning the pediatric population, mineral corticoids are also accepted in the treatment of pediatric heart failure, while diuretics should only be used to achieve a euvolemic status...
March 22, 2018: Heart Failure Reviews
https://www.readbyqxmd.com/read/29481854/a-possible-principal-function-of-corticosteroid-signaling-that-is-conserved-in-vertebrate-evolution-lessons-from-receptor-knockout-small-fish
#19
REVIEW
Tatsuya Sakamoto, Susumu Hyodo, Wataru Takagi
Corticosteroid receptors are critical for homeostasis maintenance, but understanding of the principal roles of the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR) throughout vertebrates is limited. Lines of constitutive GR-knockout zebrafish and MR-knockout medaka have recently been generated as the first adult-viable corticosteroid receptor-knockout animals, in contrast to the lethality of these receptor knockouts in mice. Here, we describe behavioral and physiological modifications following disruption of corticosteroid receptor function in these animal models...
February 23, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29469793/lesiones-subcut%C3%A3-neas-dolorosas-en-paciente-con-melanoma-metast%C3%A3-sico-un-caso-de-paniculitis-linfoc%C3%A3-tica-asociado-a-vemurafenib
#20
Felipe Benavente-Villegas, Francisco Ferrando-Roca, Raquel Dolz-Gaitón, María Royo-Peiró
Vemurafenib ha probado ser una herramienta útil en el tratamiento de melanoma metastásico con mutación BRAF-V600E. Los efectos adversos incluyen artralgias, fatiga y toxicidad cutánea, siendo infrecuente la paniculitis. Presentamos el caso de una paciente de 43 años con melanoma metastásico que desarrolla lesiones subcutáneas dolorosas en miembros inferiores y superiores, asociadas a clínica sistémica después de 2 semanas de inicio de tratamiento con Vemurafenib + Cobimetinib. La histología demostró paniculitis linfocitaria septal y lobulillar...
October 15, 2017: Dermatology Online Journal
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