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https://www.readbyqxmd.com/read/28441552/natural-killer-cell-activity-in-women-with-recurrent-miscarriage-etiology-and-pregnancy-outcome
#1
Yasuhiko Ebina, Yukari Nishino, Masashi Deguchi, Yoko Maesawa, Yuki Nakashima, Hideto Yamada
This study aimed to evaluate whether natural killer (NK) cell activity was associated with the etiology of recurrent miscarriage (RM), and to evaluate the predictive value of NK cell activity for outcomes of following pregnancies in women with RM. Peripheral NK cell activity was measured in 160 non-pregnant women with a history of two or more miscarriages. This activity was compared according to the etiology of RM and to pregnancy outcomes in women who became pregnant. NK cell activity in women with unexplained RM was significantly higher than that in those with known etiologies of RM...
April 13, 2017: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/28440998/-extranodal-nk-t-cell-lymphoma-nasal-type-in-granulomatosis-with-polyangiitis-a-case-report
#2
Sergio Alberto Mendoza-Álvarez, Fátima Margarita Rodríguez-Dávila, Leslie Moranchel-García, Virginia Soto, Natalia Quisped
BACKGROUND: Granulomatosis with polyangiitis (GP) is a systemic necrotizing vasculitis with multi-organ involvement that primarily affects the respiratory tract and the kidneys. Fever in these patients is an indicator of activity; however, if it arises in isolation, the physician should exclude other causes. CLINICAL CASE: Male patient admitted due to an unexplained fever and weight loss; it was diagnosed GP by a history of pauci-immune glomerulonephritis, fixed pulmonary nodules and chronic sinusitis of four years of evolution; however, the fever persisted despite treatment and in the absence of infection...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28440827/molecular-dynamics-investigations-of-membrane-bound-cyp2c19-polymorphisms-reveal-distinct-mechanisms-for-peripheral-variants-by-long-range-effects-on-the-enzymatic-activity
#3
Ying-Lu Cui, Rong-Ling Wu
Increasing sophistication in methods used to account for human polymorphisms in susceptibility to drug metabolism has been one of the success stories in the prevention of adverse drug reactions. Genetic polymorphisms in drug-metabolizing enzymes can affect enzyme activity and cause differences in treatment response or drug toxicity. CYP2C19 is one of the most highly polymorphic CYP enzymes and acts on 10-15% of drugs in current clinical use. Despite the number of experimental analyses carried out for this system, the detailed structural basis for altered catalytic properties of polymorphic CYP2C19 variants remains unexplained at the atomic level...
April 25, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28440588/endometrial-immune-markers-are-potential-predictors-of-normal-fertility-and-pregnancy-after-in-vitro-fertilization
#4
Louise Kofod, Anette Lindhard, Michael Bzorek, Jens Ole Eriksen, Lise Grupe Larsen, Thomas Vauvert F Hviid
PROBLEM: Elucidating immune mechanisms in the endometrium, which lead to the success of implantation and pregnancy, is important in reproductive medicine. Studies of immune cell abundance have shown conflicting results, and the expression and importance of HLA class Ib proteins in pre-implantation endometrium have not yet been investigated. METHOD OF STUDY: The study population consisted of four subgroups: a hydrosalpinx, a salpingectomy, an unexplained infertility, and a fertile control group...
April 25, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28440537/speech-therapy-a-non-pharmacological-method-to-manage-difficult-to-treat-chronic-cough
#5
Karolina Krakowiak, Marta Dąbrowska, Filip Buła, Anna Łobacz, Dorota Rojek, Elżbieta M Grabczak, Antoni Krzeski, Rafał Krenke
Cough is the most common symptom of respiratory diseases. The results of management of chronic cough in adults are still unsatisfactory. Unexplained and difficult-to-treat chronic cough causes significant impairment in patients' quality of life. The results of recent studies suggest that speech therapy (speech language intervention) is one of the few methods which are usefull in management of persistent chronic cough. We present a case of a patient with chronic cough due to chronic nonallergic rhinitis and gastroesophageal reflux disease, who had been unsuccessfully treated for 18 years...
2017: Advances in Respiratory Medicine
https://www.readbyqxmd.com/read/28440306/an-evaluation-of-factors-associated-with-pathogenic-prss1-spink1-ctfr-and-or-ctrc-genetic-variants-in-patients-with-idiopathic-pancreatitis
#6
Niloofar Y Jalaly, Robert A Moran, Farshid Fargahi, Mouen A Khashab, Ayesha Kamal, Anne Marie Lennon, Christi Walsh, Martin A Makary, David C Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh K Singh
OBJECTIVES: We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. METHODS: Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis...
April 25, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28440294/next-generation-dna-sequencing-identifies-novel-gene-variants-and-pathways-involved-in-specific-language-impairment
#7
Xiaowei Sylvia Chen, Rose H Reader, Alexander Hoischen, Joris A Veltman, Nuala H Simpson, Clyde Francks, Dianne F Newbury, Simon E Fisher
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28438477/apnea-in-the-term-infant
#8
REVIEW
Mary Elaine Patrinos, Richard J Martin
Whereas apnea of prematurity has been well defined and its pathophysiology extensively studied, apnea in the term infant remains a greater challenge. Unfortunately, clear diagnostic criteria are lacking and pathogenesis and management vary widely. In this review we have arbitrarily organized the discussion chronologically into earlier and later postnatal periods. In the first days of life, presumed apnea may reflect physiologic events such as positional or feeding etiologies, or may be a manifestation of serious pathophysiology, such as a seizure disorder...
April 21, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28437851/fexofenadine-a-putative-in-vivo-p-glycoprotein-probe-fails-to-predict-clearance-of-the-substrate-tacrolimus-in-renal-recipients
#9
Thomas Vanhove, Thomas Bouillon, Henriëtte de Loor, Pieter Annaert, Dirk R J Kuypers
Whether combined use of probe drugs for CYP3A4 and P-glycoprotein can clarify the relative contribution of these proteins to pharmacokinetic variability of a dual substrate like tacrolimus has never been assessed. Seventy renal recipients underwent simultaneous 8-hour pharmacokinetic profiles for tacrolimus, the CYP3A4 probe midazolam and the putative P-glycoprotein probe fexofenadine. Patients were genotyped for polymorphisms in CYP3A5, CYP3A4, ABCB1, ABCC2 and SLCO2B1, -1B1 and 1B3. Carriers of the ABCB1 2677G>A polymorphism displayed lower fexofenadine Cmax (-66%; P=0...
April 24, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28434653/a-revised-prediction-model-for-natural-conception
#10
Alexandra J Bensdorp, Jan Willem van der Steeg, Pieternel Steures, J Dik F Habbema, Peter G A Hompes, Patrick M M Bossuyt, Fulco van der Veen, Ben W J Mol, Marinus J C Eijkemans
One of the aims in reproductive medicine is to differentiate between couples that have favourable chances of conceiving naturally and those that do not. Since the development of the prediction model of Hunault, characteristics of the subfertile population have changed. The objective of this analysis was to assess whether additional predictors can refine the Hunault model and extend its applicability. Consecutive subfertile couples with unexplained and mild male subfertility presenting in fertility clinics were asked to participate in a prospective cohort study...
March 28, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28434188/drivers-of-community-assembly-in-tropical-forest-restoration-sites-role-of-local-environment-landscape-and-space
#11
Lívia D Audino, Stephen J Murphy, Ludimila Zambaldi, Julio Louzada, Liza S Comita
There is increasing recognition that community assembly theory can offer valuable insights for ecological restoration. We studied community assembly processes following tropical forest restoration efforts, using dung beetles (Scarabaeidae) as a focal taxon to investigate taxonomic and functional patterns of biodiversity recovery. We evaluated the relative importance of the local environment (i.e., canopy cover, understory cover, tree basal area, and soil texture), landscape context (i.e., habitat patch proximity and availability and percentage of surrounding area classified as natural forest or Eucalyptus spp...
April 23, 2017: Ecological Applications: a Publication of the Ecological Society of America
https://www.readbyqxmd.com/read/28433112/wilson-disease-liver-pathology
#12
Maciej Pronicki
The liver in Wilson disease may demonstrate a wide range of damage patterns. Some patients may present almost no detectable microscopic pathology, while others display lesions consistent with fulminant hepatitis or acute liver failure. Most liver biopsy specimens show moderate to severe steatosis, variable degree of portal and/or lobular inflammation, and fibrosis eventually progressing to cirrhosis. Additional findings include liver cell degeneration and ballooning, Mallory hyaline bodies, liver cell necrosis, and glycogenation of periportal hepatocytic nuclei...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432985/lif-endometrial-expression-is-impaired-in-women-with-unexplained-infertility-while-lif-r-expression-in-all-infertility-sub-groups
#13
Chrysoula Margioula-Siarkou, Yannis Prapas, Stamatios Petousis, Stefanos Milias, Konstantinos Ravanos, Themistoklis Dagklis, Ioannis Kalogiannidis, George Mavromatidis, Constantinos Haitoglou, Nikolaos Prapas, David Rousso
The main objective of our study was to study LIF and LIF-R endometrial expression during the implantation window in the various sub-groups of infertile women according to infertility cause. A prospective observational case-control study was performed from March 2013 to February 2016. Infertile women consisted of the patients' group (group 2) while fertile women were the control group (group 1). Infertile women were divided according to infertility cause in women with tubal factor (group 2a), poor ovarian reserve (group 2b), endometriosis (group 2c) and unexplained infertility (group 2d)...
April 19, 2017: Cytokine
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#14
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432042/syndrome-of-inappropriate-antidiuretic-hormone-accompanied-by-bilateral-hypothalamic-and-anterior-thalamic-lesions-with-serum-antiaquaporin-4-antibody
#15
Kosuke Inoue, Takahiro Nakayama, Aya Kamisawa, Jun Saito
We described a rare case of the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and severe unconsciousness accompanied by bilateral hypothalamic and anterior thalamic lesions with positive serum antiaquaporin 4 (AQP4) antibody. A 29-year-old man was admitted to our hospital due to the subacute progression of an unconscious state. He was observed to be hyponatraemic secondary to SIADH. Brain MRI showed bilateral hypothalamic and anterior thalamic lesions. Anti-AQP4 antibody was detected in his serum...
April 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28431992/genomic-answers-for-recurrent-spontaneous-abortion-in-saudi-arabia-an-array-comparative-genomic-hybridization-approach
#16
Sajjad Karim, Hasan Salleh Jamal, Abdullraheem Rouzi, Mohammed Salleh M Ardawi, Hans-Juergen Schulten, Zeenat Mirza, Nuha A Alansari, Maha M Al-Quaiti, Heba Abusamra, Muhammad Imran Naseer, Rola Turki, Adeel Gulzar Chaudhary, Mamdooh Gari, Adel Mohammed Abuzenadah, Mohammed Hussain Al-Qhatani
To study the genomics/genetic factors associated with recurrent spontaneous abortion (RSA), as ∼50% of RSA are unexplained. However, chromosome abnormalities have been reported to play major role in RSA. We performed whole genome array-CGH based genomic analysis of forty four Saudi RSA patients to identify potential molecular and chromosomal abnormalities. We identified a total of 845 alterations, usually not detected by classic cytogenetic methods, in different genomic regions using a cut off value of -0...
April 18, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/28430550/round-table-on-malignant-hyperthermia-in-physically-active-populations-meeting-proceedings
#17
Yuri Hosokawa, Douglas J Casa, Henry Rosenberg, John F Capacchione, Emmanuel Sagui, Sheila Riazi, Luke N Belval, Patricia A Deuster, John F Jardine, Stavros A Kavouras, Elaine C Lee, Kevin C Miller, Sheila M Muldoon, Francis G O'Connor, Scott R Sailor, Nyamkhishig Sambuughin, Rebecca L Stearns, William M Adams, Robert A Huggins, Lesley W Vandermark
CONTEXT:   Recent case reports on malignant hyperthermia (MH)-like syndrome in physically active populations indicate potential associations among MH, exertional heat stroke (EHS), and exertional rhabdomyolysis (ER). However, an expert consensus for clinicians working with these populations is lacking. OBJECTIVE:   To provide current expert consensus on the (1) definition of MH; (2) history, etiology, and pathophysiology of MH; (3) epidemiology of MH; (4) association of MH with EHS and ER; (5) identification of an MH-like syndrome; (6) recommendations for acute management of an MH-like syndrome; (7) special considerations for physically active populations; and (8) future directions for research...
April 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28428941/cardiovascular-risk-may-be-increased-in-women-with-unexplained-infertility
#18
Fatma Ferda Verit, Fadile Yildiz Zeyrek, Ali Galip Zebitay, Hurkan Akyol
OBJECTIVE: Growing evidence suggests that increased cardiovascular disease (CVD) risk is associated with female infertility caused by conditions such as polycystic ovarian disease, obesity, thyroid dysfunction, and endometriosis. The aim of this study was to evaluate whether any relationship exists between CVD and unexplained infertility. METHODS: Sixty-five women with unexplained infertility and 65 fertile controls were enrolled in the study. CVD risk markers such as low-density lipoprotein (LDL), high-density lipoprotein (HDL), total cholesterol (TC), triglycerides (TG), insulin resistance (defined by the homeostasis model assessment ratio), and high-sensitivity C-reactive protein (hs-CRP) were assessed...
March 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28427978/prevalence-of-ponticulus-posticus-on-lateral-cephalometric-radiographs-its-association-with-cervicogenic-headache-and-a-review-of-literature
#19
Shahnaz S Tambawala, Freny R Karjodkar, Kaustubh Sansare, Digvijay Motghare, Isha Mishra, Shuddhodhan Gaikwad, Amaresh Chandra Dora
OBJECTIVES: The aim of this study was to calculate the prevalence of ponticulus posticus: a small bony bridge on the dorsal aspect of the Atlas on lateral digital cephalometric radiographs and classify it into a complete ring or an incomplete ring. The study also investigated its association with the presence or absence of cervicogenic headache in the examined population if any and presents a literature review on Ponticulus posticus. METHODS: The presence and types of ponticuli posticus were investigated on 500 digital lateral cephalograms and the same patients were questioned for a history of cervicogenic headache...
April 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28426767/benign-metastasizing-leiomyoma-a-review-of-current-literature-in-respect-to-the-time-and-type-of-previous-gynecological-surgery
#20
Edyta Barnaś, Mariusz Książek, Renata Raś, Andrzej Skręt, Joanna Skręt-Magierło, Ewa Dmoch-Gajzlerska
INTRODUCTION: Benign metastasizing leiomyoma (BML) is a rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites. The aetiology of BML remains unexplained. Because BML is rare, and most publications contain descriptions of single cases, no statistically determined time relations were found between the primary and secondary surgeries, which may have aetiological implications. OBJECTIVES: To determine age before BML surgery, age during diagnosis of BML, type of prior surgery, and location of metastasis based on the literature...
2017: PloS One
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