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https://www.readbyqxmd.com/read/29656314/-174-g-c-il-6-polymorphism-and-primary-iron-overload-in-male-patients
#1
Walter F Tetzlaff, Tomás Meroño, Eliana E Botta, Maximiliano E Martín, Patricia B Sorroche, Laura E Boero, Marcelo Castro, Gustavo D Frechtel, Jorge Rey, Jorge Daruich, Gloria E Cerrone, Fernando Brites
Primary iron overload (IO) is commonly associated with mutations in the hereditary hemochromatosis gene (HFE). Nonetheless, other genetic variants may influence the development of IO beyond HFE mutations. There is a single nucleotide polymorphism (SNP) at - 174 G>C of the interleukin (IL)-6 gene which might be associated with primary IO. Our aim was to study the association between the SNP - 174 G>C gene promoter of IL-6 and primary IO in middle-aged male patients. We studied 37 men with primary IO diagnosed by liver histology...
April 14, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29655843/trait-and-frequency-dependent-dysfunctional-habituation-to-trigeminal-nociceptive-stimulation-in-trigeminal-autonomic-cephalalgias
#2
Armando Perrotta, Gianluca Coppola, Maria Grazia Anastasio, Roberto De, Anna Ambrosini, Mariano Serrao, Vincenzo Parisi, Maurizio Evangelista, Giorgio Sandrini, Francesco Pierelli
We investigated whether the stimulation frequency, the pain phases and different diagnoses of trigeminal autonomic cephalalgias (TACs) may influence the habituation to pain. We studied the habituation of the nociceptive blink reflex (nBR) R2 responses at different stimulation frequencies (SF, 0.05, 0.1, 0.2, 0.3, 0.5, 1Hz), in 28 episodic cluster headache (ECH), 16 during (ECH-in) and 12 outside (ECH-out) the bout; they were compared with 16 episodic paroxysmal hemicrania (EPH) during the bout and 21 healthy subjects (HS)...
April 12, 2018: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29655774/twenty-years-experience-with-anaphylaxis-like-reactions-to-local-anesthetics-genuine-allergy-is-rare
#3
Axel Trautmann, Matthias Goebeler, Johanna Stoevesandt
BACKGROUND: Anaphylaxis-like reactions occur within minutes after application of local anesthetics (LA), most commonly during dental interventions. Impressive symptoms including respiratory distress or loss of consciousness frequently give rise to a suspicion of allergy and may prompt patients and treating physicians to refuse future LA injections. OBJECTIVE: Non-allergic mechanisms are responsible for the majority of LA-induced immediate-type reactions. In view of the preponderance of non-allergic reactions, the question arises whether genuine LA allergy may be missed during routine testing procedures...
April 12, 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29655487/frequency-of-aquaporin-4-immunoglobulin-g-in-longitudinally-extensive-transverse-myelitis-with-antiphospholipid-antibodies
#4
Hilda Guerra, Sean J Pittock, Kevin G Moder, James P Fryer, Avi Gadoth, Eoin P Flanagan
Antiphospholipid (aPL) antibodies have historically been postulated to cause a poorly understood inflammatory myelitis. Neuromyelitis optica spectrum disorder (NMOSD) causes an inflammatory longitudinally extensive transverse myelitis (LETM). In 2004, aquaporin-4 immunoglobulin G (AQP4-IgG) was first reported as a highly specific (>99%) serum diagnostic biomarker of NMOSD, distinguishing it from other disorders (eg, multiple sclerosis). We sought to assess the frequency of AQP4-IgG (and thus NMOSD diagnosis) in LETM with aPL antibodies...
April 11, 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29655393/seasonal-influenza-among-children-diagnosed-by-their-guardians-a-small-pilot-study-in-japan
#5
Hiroki Maita, Tadashi Kobayashi, Hiroshi Osawa, Hiroyuki Kato
AimWe aimed to elucidate the accuracy and optimal cut-off point of the self-diagnosis of influenza and the associated clinical symptoms of children by their guardians, compared with those of the rapid influenza diagnostic test (RIDT). BACKGROUND: Seasonal influenza is a common outpatient problem during the winter season. A paediatric influenza epidemic has socio-economic impacts like temporary school closure, school event cancellations, and unscheduled work absences among parents. Hence, early identification and assessment of influenza to prevent its spread is important from a societal perspective...
April 15, 2018: Primary Health Care Research & Development
https://www.readbyqxmd.com/read/29653316/clinical-variability-and-onset-age-modifiers-in-an-extended-belgian-grn-founder-family
#6
Eline Wauters, Sara Van Mossevelde, Kristel Sleegers, Julie van der Zee, Sebastiaan Engelborghs, Anne Sieben, Rik Vandenberghe, Stéphanie Philtjens, Marleen Van den Broeck, Karin Peeters, Ivy Cuijt, Wouter De Coster, Tim Van Langenhove, Patrick Santens, Adrian Ivanoiu, Patrick Cras, Jan L De Bleecker, Jan Versijpt, Roeland Crols, Nina De Klippel, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven
We previously reported a granulin (GRN) null mutation, originating from a common founder, in multiple Belgian families with frontotemporal dementia. Here, we used data of a 10-year follow-up study to describe in detail the clinical heterogeneity observed in this extended founder pedigree. We identified 85 patients and 40 unaffected mutation carriers, belonging to 29 branches of the founder pedigree. Most patients (74.4%) were diagnosed with frontotemporal dementia, while others had a clinical diagnosis of unspecified dementia, Alzheimer's dementia or Parkinson's disease...
March 10, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29652729/anorectal-manometry-may-reduce-the-number-of-rectal-suction-biopsy-procedures-needed-to-diagnose-hirschsprung-s-disease
#7
Rob J Meinds, Monika Trzpis, Paul M A Broens
OBJECTIVES: To evaluate whether anorectal manometry (ARM), which is used to test the rectoanal inhibitory reflex (RAIR), is a safe alternative for reducing the number of invasive rectal suction biopsy (RSB) procedures needed to diagnose Hirschsprung's disease (HD). METHODS: Between 2010 and 2017, we prospectively collected the ARM results of 105 patients suspected of having HD. Following the outcome, the patients either underwent additional tests to confirm HD or they were treated conservatively...
April 12, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29652577/lung-cancers-associated-with-cystic-airspaces-underrecognized-features-of-early-disease
#8
Sarah Sheard, Joanna Moser, Charlie Sayer, Konstantinos Stefanidis, Anand Devaraj, Ioannis Vlahos
Early lung cancers associated with cystic airspaces are increasingly being recognized as a cause of delayed diagnoses-owing to data gathered from screening trials and encounters in routine clinical practice as more patients undergo serial imaging. Several morphologic subtypes of cancers associated with cystic airspaces exist and can exhibit variable patterns of progression as the solid elements of the tumor grow. Current understanding of the pathogenesis of these malignancies is limited, and the numbers of cases reported in the literature are small...
April 13, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29652299/-ataxia-with-oculomotor-apraxia-type-4-detected-by-next-generation-sequencing
#9
G E Rudenskaya, E I Surkova, F A Konovalov
Ataxias with oculomotor apraxia (AOA) belong to autosomal recessive ataxias. Their common feature is oculomotor apraxia: inability to coordinate eye movements not due to muscle weakness. Next-generation sequencing (NGS) gives unique opportunities of rare disorders diagnostics and discovering of new forms, including AOA. In 2015, AOA type 4 produced by PNKP mutations was delineated in a group of Portuguese patients. We diagnosed AOA4 in a 9-year-old boy from Byelorussian family. He presented with ataxia since 2 years and deterioration in 8 years, oculomotor apraxia, dystonic hyperkinesia, dysarthria, polyneuropathy, borderline/mildly impaired intelligence, cerebellar atrophy on MRI and moderate hypercholesterolemia...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29652038/analysis-of-novel-cardiovascular-biomarkers-in-patients-with-peripheral-artery-disease-pad
#10
Peter Jirak, Moritz Mirna, Bernhard Wernly, Vera Paar, Marcus Thieme, Stefan Betge, Marcus Franz, Uta Hoppe, Alexander Lauten, Jürgen Kammler, Paul C Schulze, Michael Lichtenauer, Daniel Kretzschmar
BACKGROUND: Peripheral artery disease (PAD) is a common form of manifestation of atherosclerosis. PAD has a considerable impact on morbidity, hospitalisation rates and health- care costs. Biomarkers have been introduced in many cardiovascular disease entities over the last years. However, an analysis on the correlation of biomarker levels and PAD is still lacking. METHODS: A total of 106 patients were enrolled in this current study, 51 that were diagnosed with PAD and 55 with excluded coronary and peripheral artery disease as controls...
April 12, 2018: Minerva Medica
https://www.readbyqxmd.com/read/29652032/prevalence-and-clinical-predictors-of-lpr-among-patients-diagnosed-with-gerd-according-to-the-reflux-symptom-index-questionnaire
#11
Mahmoud Mosli, Bashaer Alkhathlan, Abdulmalik Abumohssin, Mazin Merdad, Ameen Alherabi, Osama Marglani, Hani Jawa, Talal Alkhatib, Hani Z Marzouki
Background/Aims: Gastroesophageal reflux disease (GERD) is a common condition that can lead to significant morbidity. Laryngopharyngeal reflux (LPR) is a distinct clinical entity that can occur simultaneously with GERD, necessitating additional treatment measures. The degree of overlap and clinical predictors of LPR among patients with GERD remains unknown. We aim to measure the prevalence of LPR in patients with GERD and identify clinical predictors. Patients and Methods: We performed a cross-sectional study involving patients with confirmed GERD according to the GERD questionnaire (GerdQ) using the reflux symptom index (RSI)...
April 13, 2018: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/29652020/classification-systems-for-gingival-recession-and-suggestion-of-a-new-classification-system
#12
REVIEW
Nagappa Guttiganur, Shivanand Aspalli, Mukta V Sanikop, Anupama Desai, Reetika Gaddale, Archana Devanoorkar
Gingival recession is one of the most usual esthetic concerns associated with the periodontal tissues. Classification of such condition is important to diagnose, determine the prognosis, and frame the treatment plan. Various classifications have been put forward since decades to classify gingival recession. Miller's classification is the widely used classification among all classifications, but certain drawbacks have been noted in this classification. Therefore, an effort is made to review most commonly used classification systems for gingival recession, and their drawbacks further come up with a proposal of new classification system for gingival recession...
March 2018: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/29651973/the-clinical-and-immunological-features-of-patients-with-primary-antibody-deficiencies
#13
Gholamreza Azizi, Yasser Bagheri, Marzieh Tavakol, Forough Askarimoghaddam, Kiyoomars Poorrostami, Hosein Rafiemanesh, Reza Yazdani, Fatemeh Kiaee, Sima Habibi, Kosar Abouhamzeh, Hamed Mohammadi, Mostafa Qorbani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications. METHODS: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications. RESULTS: The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63...
April 12, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29651637/an-overview-of-mammographic-density-and-its-association-with-breast-cancer
#14
REVIEW
Shayan Shaghayeq Nazari, Pinku Mukherjee
In 2017, breast cancer became the most commonly diagnosed cancer among women in the US. After lung cancer, breast cancer is the leading cause of cancer-related mortality in women. The breast consists of several components, including milk storage glands, milk ducts made of epithelial cells, adipose tissue, and stromal tissue. Mammographic density (MD) is based on the proportion of stromal, epithelial, and adipose tissue. Women with high MD have more stromal and epithelial cells and less fatty adipose tissue, and are more likely to develop breast cancer in their lifetime compared to women with low MD...
April 12, 2018: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/29651573/metabolic-syndrome-in-systemic-lupus-erythematosus-patients-relationship-to-disease-activity-and-neuropsychiatric-lupus
#15
N Hammam, S M Rashad, A A A Mohamed
OBJECTIVE: The study aims to evaluate the presence of metabolic syndrome (MetS) among Egyptian systemic lupus erythematosus (SLE) patients. Additionally, we intended to determine the association of MetS with disease activity, clinical and laboratory features. PATIENTS AND METHODS: This cross-sectional study included adult SLE patients diagnosed and followed in rheumatology outpatient clinics. The demographic data, clinical and laboratory parameters were assessed for all patients...
April 12, 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29651356/cerebellar-medulloblastoma-in-middle-to-late-adulthood
#16
Majid Aljoghaiman, Mahmoud S Taha, Marwah M Abdulkader
Medulloblastoma is a malignant brain tumor that is typically seen in children. It is classified as an embryonal tumor, classically located within the posterior fossa. When it involves the fourth ventricle, the patient commonly presents with signs and symptoms of raised intracranial pressure secondary to obstructive hydrocephalus. It is exceedingly rare for Medulloblastoma to occur in middle and late adulthood. In this paper, we present a case of a 51-year-old man who presented with a posterior fossa mass that was diagnosed later as Medulloblastoma...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29651355/cutaneous-adnexal-cylindroma-of-breast-epithelial-immunoreactivities-for-gata-3-mammaglobin-and-e-cadherin-do-not-equate-to-a-mammary-ductal-neoplasm
#17
A Halima, A M Pannunzio, E M Erstine, J S Ko, W F Bergfeld, R M Malaya, M B Frankel, B C Calhoun, C D Sturgis
Cylindromas are benign epithelial neoplasms derived from cutaneous eccrine adnexal structures. These tumors are most commonly encountered on the head, neck, and scalp of older women. In rare instances, solitary cylindromas may arise at other body sites. In the current case, a cylindroma of the skin of the breast was diagnosed by complete excision. Immunohistochemical studies confirmed the tumor cells to be immunoreactive with cytokeratin AE1/3, cytokeratin 5/6, cytokeratin 7, p63, and SOX10. The neoplastic cells were also noted to be immunoreactive with markers typically expected to be positive in ductal epithelium of the breast including GATA3, mammaglobin, and E-cadherin...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29651352/prolonged-survival-of-acute-lymphoblastic-leukemia-with-intrathecal-treatments-for-isolated-central-nervous-system-relapse
#18
Elan Gorshein, Sheila Kalathil, Mecide Gharibo
Acute lymphoblastic leukemia is commonly cured when diagnosed in the pediatric population. It portends a poorer prognosis if present in adult patients. Although adults frequently achieve complete remission, relapse rates are substantial, particularly among the elderly and high-risk populations. In the absence of prophylactic intrathecal chemotherapy, more than half of patients may develop CNS involvement or relapse, which is associated with significant risk for systemic illness. This report describes a patient with acute lymphoblastic leukemia with repeated isolated CNS relapses...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29651302/common-mental-disorders-and-psychological-adjustment-among-individuals-seeking-hiv-testing-a-study-protocol-to-explore-implications-for-mental-health-care-systems
#19
Jason Bantjes, Ashraf Kagee
Background: In an effort to promote greater access to voluntary counseling and testing for HIV, it has become practice in many countries, including South Africa, to establish non-medical testing sites and to de-couple HIV testing from other medical and mental health care services. While it is well established that HIV infection is associated with a range of psychopathology, much of the literature has assumed that it is receipt of an HIV positive diagnosis that causes people to become depressed, traumatized, or develop other psychiatric symptoms...
2018: International Journal of Mental Health Systems
https://www.readbyqxmd.com/read/29650931/-a-case-of-locally-advanced-pancreatic-cancer-successfully-resected-after-s-1-therapy-in-an-elderly-patient
#20
Shojirokazunori Ikenaga, Masaaki Endo, Masahiro Iwama, Motonari Ohashi, Makoto Yokoyama, Hiroyuki Jin, Tomomi Kusumi
We report a case of locally advanced pancreatic body cancer, accomplishing R0 resection following preoperative chemotherapy. An 80-year-old female patient was admitted to our hospital because of high CA19-9 levels.Based on computed tomography images, she was diagnosed with locally advanced cancer of the pancreatic body.We started S-1 chemotherapy (100mg/day, 2 weeks administration 1 week rest)because the tumor was suspected to have invaded the celiac trunk and the common hepatic artery.The tumor decreased in size, and the encasement of the celiac trunk and the common hepatic artery were released, following 6 months of chemotherapy...
March 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
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