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https://www.readbyqxmd.com/read/28923296/malignant-transformation-of-oral-leukoplakia-in-a-patient-with-dyskeratosis-congenita
#1
Michelle Bongiorno, Shayna Rivard, Daniel Hammer, Joshua Kentosh
Dyskeratosis congenita (DC) is a rare, inherited, bone marrow failure syndrome caused by premature telomere shortening. The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia. Multiple somatic features, including bone marrow failure, pulmonary fibrosis, and liver disease, are also common. DC significantly increases the risk for malignant transformation, including myelodysplastic syndrome, acute myeloid leukemia, head and neck squamous cell carcinoma, and anogenital cancer...
August 12, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28886821/female-athlete-triad-future-directions-for-energy-availability-and-eating-disorder-research-and-practice
#2
REVIEW
Nancy I Williams, Siobhan M Statuta, Ashley Austin
Despite more than 3 decades of research on the Female Athlete Triad, research gaps remain. Although low energy availability (EA) is the key etiologic factor in the Triad and the pathways to low EA are varied, its effects can be modified by several factors. Accurate screening, diagnosis, and treatment of disordered eating are a challenge; however, recent techniques combined with novel educational and behavior interventions prove promising. Recently published practice-based guidelines have helped to translate Triad science and should improve as they are refined...
October 2017: Clinics in Sports Medicine
https://www.readbyqxmd.com/read/28879899/hyperekplexia-a-forgotten-diagnosis-clinched-by-next-generation-sequencing
#3
Meenakshi Lallar, Anukool Srivastava, Shubha R Phadke
Hyperekplexia is a rare early neonatal onset, potentially treatable, neurological disorder, characterized by a triad of immediate neonatal-onset stiffness, an exaggerated startle reflex in response to tactile or auditory stimuli followed by short periodical generalized stiffness. It is a monogenic genetically heterogeneous condition which can be potentially life threatening due to apneic episodes and is usually misdiagnosed as seizures. Here, we report two female siblings with hyperekplexia who were being treated by multiple antiepileptic medications for seizure-like episodes...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28877219/a-new-approach-to-chromosome-wide-analysis-of-x-linked-markers-identifies-new-associations-in-asian-and-european-case-parent-triads-of-orofacial-clefts
#4
Øivind Skare, Håkon K Gjessing, Miriam Gjerdevik, Øystein A Haaland, Julia Romanowska, Rolv T Lie, Astanand Jugessur
BACKGROUND: GWAS discoveries on the X-chromosome are underrepresented in the literature primarily because the analytical tools that have been applied were originally designed for autosomal markers. Our objective here is to employ a new robust and flexible tool for chromosome-wide analysis of X-linked markers in complex traits. Orofacial clefts are good candidates for such analysis because of the consistently observed excess of females with cleft palate only (CPO) and excess of males with cleft lip with or without cleft palate (CL/P)...
2017: PloS One
https://www.readbyqxmd.com/read/28867330/silencing-of-juvenile-hormone-epoxide-hydrolase-gene-nljheh-enhances-short-wing-formation-in-a-macropterous-strain-of-the-brown-planthopper-nilaparvata-lugens
#5
Jing Zhao, Yunlong Zhou, Xiang Li, Wanlun Cai, Hongxia Hua
The rice brown planthopper, Nilaparvata lugens, is an important migratory pest in many rice planting areas of Asia. The typical wing dimorphism of N. lugens gives them flexibility to adapt to different environmental cues. As an important hormone in the insect's endocrine regulation, juvenile hormone (JH) has previously been shown to participate in the wing morph determination of N. lugens. In this paper, we investigated the possible wing morph determination roles of two JH metabolic enzymes, JH esterase (JHE) and JH epoxide hydrolase (JHEH)...
September 1, 2017: Journal of Insect Physiology
https://www.readbyqxmd.com/read/28863726/-you-have-to-approach-us-right-a-qualitative-framework-analysis-for-recruiting-african-americans-into-mhealth-research
#6
Delores C S James, Cedric Harville, Orisatalabi Efunbumi, Ida Babazadeh, Sheriza Ali
BACKGROUND: Despite the high ownership of smartphones, African Americans (AAs) remain underrepresented in health research and specifically mobile health (mHealth) research. This may be due to ineffective recruitment efforts. PURPOSE: To explore strategies for recruiting AAs into mHealth research and examine how these strategies may vary by gender and age-group. METHOD: Twenty triad focus groups ( n = 60) were conducted with AA males ( n = 9 groups) and females ( n = 11 groups)...
September 1, 2017: Health Education & Behavior: the Official Publication of the Society for Public Health Education
https://www.readbyqxmd.com/read/28860051/an-unusual-right-sided-suprarenal-accessory-spleen-misdiagnosed-as-an-atypical-pheochromocytoma
#7
Zenan Xia, Zhien Zhou, Zhiyuan Shang, Zhigang Ji, Weigang Yan
Compared with left suprarenal splenosis, a right suprarenal accessory spleen is more likely to be misdiagnosed as an adrenal tumor due to its extreme rarity. Especially when splenosis mimics an atypical pheochromocytoma, preoperative diagnosis may become more difficult and elusive. Herein we report the case of a female patient with a right suprarenal mass, which was suspected to be an atypical pheochromocytoma based on a history of the classic triad and positive somatostatin receptor scintigraphy, but histopathology suggested a final diagnosis of right suprarenal splenosis...
August 28, 2017: Urology
https://www.readbyqxmd.com/read/28859680/prevalence-of-human-pegivirus-1-and-sequence-variability-of-its-e2-glycoprotein-estimated-from-screening-donors-of-fetal-stem-cell-containing-material
#8
Yakov Vitrenko, Iryna Kostenko, Kateryna Kulebyakina, Khrystyna Sorochynska
BACKGROUND: Human pegivirus-1 (HPgV-1) is a member of the Flaviviridae family whose genomic organization and mode of cellular entry is similar to that of hepatitis C virus (HCV). The E2 glycoprotein of HPgV-1 is the principle mediator in the virus-cell interaction and as such harbors most of HPgV-1's antigenic determinants. HPgV-1 persists in blood cell precursors which are increasingly used for cell therapy. METHODS: We studied HPgV-1 prevalence in a large cohort of females donating fetal tissues for clinical use...
August 31, 2017: Virology Journal
https://www.readbyqxmd.com/read/28836448/gender-differences-in-posttraumatic-stress-symptoms-among-former-prisoners-of-wars-adult-offspring
#9
Gadi Zerach, Zahava Solomon
OBJECTIVES: The lifetime risk for posttraumatic stress disorder (PTSD) and PTSD symptoms (PTSS) among primary and secondary female victims is known to be higher than for male. This study assessed gender differences in PTSS among former prisoners of war's (ex-POWs) adult offspring and the associations with their fathers' and mothers' PTSS and the parental bonding with them. DESIGN: A correlative study. METHODS: A sample of 79 Israeli father-mother-offspring ex-POW triads from the 1973 Yom Kippur War completed self-report measures...
August 24, 2017: Anxiety, Stress, and Coping
https://www.readbyqxmd.com/read/28831686/food-versus-pharmacy-assessment-of-nutritional-and-pharmacological-strategies-to-improve-bone-health-in-energy-deficient-exercising-women
#10
REVIEW
Emily A Southmayd, Adelaide C Hellmers, Mary Jane De Souza
PURPOSE OF REVIEW: The review aims to summarize our current knowledge surrounding treatment strategies aimed at recovery of bone mass in energy-deficient women suffering from the Female Athlete Triad. RECENT FINDINGS: The independent and interactive contributions of energy status versus estrogen status on bone density, geometry, and strength have recently been reported, highlighting the importance of addressing both energy and estrogen in treatment strategies for bone health...
August 22, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28807379/surgical-correction-of-haglund-s-triad-using-a-central-tendon-splitting-approach-a-retrospective-outcomes-study
#11
Zhan Xia, Andy Khye Soon Yew, Ting Karen Zhang, Hsien Ching David Su, Yung Chuan Sean Ng, Inderjeet Singh Rikhraj
We evaluated the surgical outcomes of Haglund's triad using a central tendon-splitting approach, with Achilles tendon partial detachment and debridement, excision of the retrocalcaneal bursa, resection of Haglund's prominence, and reattachment of the Achilles tendon. The medical records of 22 patients (22 heels) who had undergone surgical correction of Haglund's triad from January 2010 to December 2015 were reviewed retrospectively. The visual analog scale pain score, American Orthopaedic Foot and Ankle Society (AOFAS) Ankle-Hindfoot scale score, and 36-item Short-Form Health Survey physical and mental component scores were prospectively collected preoperatively, 6 months postoperatively, and at the last visit...
August 11, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28796598/prevalence-correlates-and-time-trends-of-multiple-chronic-conditions-among-israeli-adults-estimates-from-the-israeli-national-health-interview-survey-2014-2015
#12
Samah Hayek, Anneke Ifrah, Teena Enav, Tamy Shohat
INTRODUCTION: Chronic diseases constitute a major public health challenge. The prevalence of multiple chronic conditions (MCC) has increased. The objective of our study was to describe the prevalence, correlates, and time trends of MCC in the Israeli population and among the nation's 2 main population groups (Jewish and Arab). METHODS: To describe the prevalence of correlates of MCC, we used data from the 2014-2015 Israeli National Health Interview Survey-III (INHIS-III)...
August 10, 2017: Preventing Chronic Disease
https://www.readbyqxmd.com/read/28795004/the-female-athlete-triad-special-considerations-for-adolescent-female-athletes
#13
REVIEW
Kelly A Brown, Aditya V Dewoolkar, Nicole Baker, Colleen Dodich
The number of adolescent girls participating in sports has dramatically increased throughout the last few decades. In the early 1990's, an association between amenorrhea, osteoporosis, and disordered eating was recognized and eventually labeled the 'Female Athlete Triad'. In 1997, the Task Force on Women's Issues of American College of Sports Medicine (ACSM) published a position statement on this triad of conditions that were becoming increasingly more prevalent amongst female athletes. Initially, the 'Female Athlete Triad' was characterized by disordered eating, amenorrhea, and osteoporosis...
July 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28791270/herlyn-werner-wunderlich-syndrome-an-unusual-presentation-with-pyocolpos
#14
Eun Jung Jung, Moon Hyeong Cho, Da Hyun Kim, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Kyung Bok Lee
Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28764263/acute-pyelonephritis-correlation-of-clinical-parameter-with-radiological-imaging-abnormalities
#15
Leelavathi Venkatesh, Ramalingiah Karadakere Hanumegowda
INTRODUCTION: Pyelonephritis (PN) is a suppurative infection of the kidney, most commonly due to bacterial infection and may be either acute or chronic. Acute PN (APN) subdivided into uncomplicated and complicated. Severity of PN cannot be assessed by clinical or laboratorial parameters alone, radiological imaging such as Ultrasound (USG) abdomen, Computed Tomography (CT) is required to know the nature, extent and severity of disease and for planning interventions. AIM: The aim of this study was to compare clinical and biochemical parameters with radiological findings (USG/CT) among patients diagnosed to have PN...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28761231/renal-manifestations-in-paroxysmal-nocturnal-hemoglobinuria
#16
R Ram, K P Adiraju, S Gudithi, K V Dakshinamurty
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic disorder characterized by a triad of clinical features - hemolytic anemia, pancytopenia, and thrombosis. Not many reports of renal involvement in PNH are available in literature. We present a case series of PNH with renal involvement. We present the data of PNH patients who attended to Departments of General Medicine and Nephrology at a government-run tertiary care institute in South India. The diagnosis of PNH in these patients during initial phase, between 1998 and 2004 was based on sucrose lysis and Ham's test...
July 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28739378/succinate-dehydrogenase-sdh-deficiency-carney-triad-and-the-epigenome
#17
REVIEW
Nikolaos Settas, Fabio R Faucz, Constantine A Stratakis
In this report, we review the relationship between succinate dehydrogenase (SDH) deficiency and the epigenome, especially with regards to two clinical conditions. Carney triad (CT) is a very rare disease with synchronous or metachronous occurrence of at least three different tumor entities; gastric gastrointestinal stromal tumor (GIST), paraganglioma (PGL), and pulmonary chondroma. This condition affects mostly females and it is never inherited. Another disease that shares two of the tumor components of CT, namely GIST and PGL is the Carney-Stratakis syndrome (CSS) or dyad...
July 21, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28737524/female-athlete-triad
#18
Meredith B Loveless
PURPOSE OF REVIEW: The obstetrician/gynecologist (ob/gyn) may be the first provider to have the opportunity to recognize and diagnose female athlete triad. This review will help the ob/gyn to understand the female athlete triad and what is new on this topic, how to screen and diagnose the condition and the ob/gyn's role in treatment. RECENT FINDINGS: Female athlete triad, also known as relative energy deficiency in sports, involves an interrelationship among energy availability, menstrual function and low bone density...
July 21, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28720077/hemolytic-uremic-syndrome-as-the-presenting-manifestation-of-wt1-mutation-and-denys-drash-syndrome-a-case-report
#19
Joseph L Alge, Scott E Wenderfer, John Hicks, Mir Reza Bekheirnia, Deborah A Schady, Jamey S Kain, Michael C Braun
BACKGROUND: Hemolytic uremic syndrome (HUS) can occur as a primary process due to mutations in complement genes or secondary to another underlying disease. HUS sometimes occurs in the setting of glomerular diseases, and it has been described in association with Denys-Drash syndrome (DDS), which is characterized by the triad of abnormal genitourinary development; a pathognomonic glomerulopathy, diffuse mesangial sclerosis; and the development of Wilms tumor. CASE PRESENTATION: We report the case of a 46, XX female infant who presented with HUS and biopsy-proven thrombotic microangiopathy...
July 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28669977/an-unusual-triad-of-hemophagocytic-syndrome-lymphoma-and-tuberculosis-in-a-non-hiv-patient
#20
Hafiz Rizwan Talib Hashmi, Rashmi Mishra, Masooma Niazi, Sindhaghatta Venkatram, Gilda Diaz-Fuentes
BACKGROUND Lymphoma complicated with hemophagocytic syndrome and tuberculosis has been rarely reported. The clinical and radiological presentation of these potentially fatal conditions can be easily confused and there is a potential for misdiagnosis. CASE REPORT We present a 58-year-old Hispanic female who was admitted to the hospital with dizziness and fever. Her initial admission diagnosis was severe sepsis secondary to community acquired pneumonia. She was started on intravenous antibiotics. Due to mediastinal lymphadenopathy, lymphoma was considered as a differential diagnosis for which she underwent bronchoscopy and endobronchial ultrasound-guided sampling of her mediastinal lymph nodes...
July 3, 2017: American Journal of Case Reports
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