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N Gopalakrishnan, R Arul, J Dhanapriya, T Dinesh Kumar, R Sakthirajan, T Balasubramaniyan
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is characterised by progressive corneal opacification, glomerulopathy, mild - moderate haemolytic anaemia and very low plasma levels of HDL. We here report a 34 year-old lady who presented with hypertension, nephrotic proteinuria, renal failure, corneal ring opacities, anemia and dyslipidemia...
October 2016: Journal of the Association of Physicians of India
Michael M Dowling, Charles T Quinn, Claudio Ramaciotti, Julie Kanter, Ifeyinwa Osunkwo, Baba Inusa, Rathi Iyer, Janet L Kwiatkowski, Clarissa Johnson, Melissa Rhodes, William Owen, John J Strouse, Julie A Panepinto, Lynne Neumayr, Sharada Sarnaik, Patricia A Plumb, Nomazulu Dlamini, Fenella Kirkham, Linda S Hynan
'Paradoxical' embolization via intracardiac or intrapulmonary right-to-left shunts (RLS) is an established cause of stroke. Hypercoagulable states and increased right heart pressure, which both occur in sickle cell anaemia (SCA), predispose to paradoxical embolization. We hypothesized that children with SCA and overt stroke (SCA + stroke) have an increased prevalence of potential RLS. We performed contrasted transthoracic echocardiograms on 147 children (aged 2-19 years) with SCA + stroke) mean age 12·7 ± 4·8 years, 54·4% male) and a control group without SCA or stroke (n = 123; mean age 12·1 ± 4·9 years, 53·3% male)...
October 21, 2016: British Journal of Haematology
Rebekka Stadje, Katharina Dornieden, Erika Baum, Annette Becker, Tobias Biroga, Stefan Bösner, Jörg Haasenritter, Christian Keunecke, Annika Viniol, Norbert Donner-Banzhoff
BACKGROUND: Tiredness is one of the most frequent complaints in primary care. Although often self-limiting and frequently associated with psychosocial stress, patients but also their physicians are often uncertain regarding a serious cause and appropriate diagnostic work-up. We conducted a systematic review and meta-analysis of studies reporting on differential diagnosis of fatigue in primary care. METHODS: MEDLINE, EMBASE and conference abstracts were searched for primary care based studies of patients presenting with tiredness...
October 20, 2016: BMC Family Practice
O M Kandil, K A Abdelrahman, H A Fahmy, M S Mahmoud, A H El Namaky, J E Miller
Haemonchus contortus is a major parasite of small ruminants and its blood-feeding behaviour causes effects ranging from mild anaemia to death. Knowledge of the genetic variation within and among H. contortus populations can provide the foundation for understanding transmission patterns and aid in the control of haemonchosis. Adult male H. contortus were collected from three geographical regions in Egypt. The second internal transcribed spacer (ITS2) of nuclear ribosomal DNA was amplified using the polymerase chain reaction (PCR) and sequenced directly...
October 20, 2016: Journal of Helminthology
Arundhati Barua, Niharika Gill
OBJECTIVE: This comparative cross sectional study was conducted in a teaching hospital in Mumbai during the monsoon of 2014.A significant number of dengue and malaria co-infection cases, along with dengue, malaria and other infective causes of acute febrile illnesses were noted. The objective of the present study was to understand the interplay of both infections. Since the first such reported case in 2005, studies and data on such cases are scarce, hence this study. AIM: To compare the clinical course, laboratory features, severity and outcome of coinfection with monoinfection of malaria and dengue...
August 2016: Journal of the Association of Physicians of India
Fiona H McKay, Christina Cheng, Annemarie Wright, Jane Shill, Hugh Stephens, Mary Uccellini
INTRODUCTION: Increasing smartphones access has allowed for increasing development and use of smart phone applications (apps). Mobile health interventions have previously relied on voice or text-based short message services (SMS), however, the increasing availability and ease of use of apps has allowed for significant growth of smartphone apps that can be used for health behaviour change. This review considers the current body of knowledge relating to the evaluation of apps for health behaviour change...
October 18, 2016: Journal of Telemedicine and Telecare
D Miranda-Hernández, C Cruz-Reyes, C Monsebaiz-Mora, E Gómez-Bañuelos, U Ángeles, L J Jara, M Á Saavedra
The aim of this study was to estimate the impact of the haematological manifestations of systemic lupus erythematosus (SLE) on mortality in hospitalized patients. For that purpose a case-control study of hospitalized patients in a medical referral centre from January 2009 to December 2014 was performed. For analysis, patients hospitalized for any haematological activity of SLE (n = 103) were compared with patients hospitalized for other manifestations of SLE activity or complications of treatment (n = 206)...
October 18, 2016: Lupus
Jesica F Ramírez, Beatriz Porras, Elizabeth Borrero, Sandra P Martínez
BACKGROUND: Malaria worldwide annual reported cases range between 250 and 500 million and nearly half a million deaths are reported every year. Colombia has a vast expanse of territory with environmental and social conditions conducive to malaria transmission, which is the reason why it has second place in Latin America for the number of cases of malaria. METHODS: This is a retrospective, paired, case-control study that compares patients with severe malaria and malaria patients without mention of complication...
October 19, 2016: Malaria Journal
Liejy Agnes Landim, Marcia Luiza Dos Santos Beserra Pessoa, Amanda de Castro Amorim Serpa Brandão, Marcelo Antonio Morgano, Marcos Antônio De Mota Araújo Marcos Antônio de Mota Araújo, Maurisrael De Moura Rocha, José Alfredo Gomes Arêas, Regilda Saraiva Dos Reis Moreira-Araújo
INTRODUCTION: Nutritional intervention in pre-school children using cookies prepared with wheat flour enriched with iron and folic acid (CWFFeFA) and cookies prepared with cowpea (Vigna unguiculata (L.) Walp) flour fortified with iron and zinc and wheat flour enriched with iron and folic acid (CCFFeZn + WFFeFA). OBJECTIVE: To assess the impact of the ingestion of CWFFeFA and CCFFeZn + WFFeFA by pre-school children, using the cowpea variety BRS-Xiquexique, to control iron-deficiency anaemia...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Shaik Jani Basha, N R Shetty, Harshad Devarbhavi
We report the case of a 42 year male with history of chronic anaemia who was found to have pernicious anaemia with beta thalassemia trait and had on esophago-gastric-duodenoscopy, gastric carcinoids with gastric atrophy. Pernicious anaemia and gastric carcinoids occurring simultaneously in a single individual is rare. Our case emphasises the need for esophago-gastric-duodenoscopy in cases of pernicious anaemia.
July 2016: Journal of the Association of Physicians of India
J E Truscott, H C Turner, S H Farrell, R M Anderson
Infections caused by soil-transmitted helminthias (STHs) affect over a billion people worldwide, causing anaemia and having a large social and economic impact through poor educational outcomes. They are identified in the World Health Organization (WHO) 2020 goals for neglected tropical diseases as a target for renewed effort to ameliorate their global public health burden through mass drug administration (MDA) and water and hygiene improvement. In this chapter, we review the underlying biology and epidemiology of the three causative intestinal nematode species that are mostly considered under the STH umbrella term...
2016: Advances in Parasitology
Takeshi Akiyama, Tiengkham Pongvongsa, Souraxay Phrommala, Tomoyo Taniguchi, Yuba Inamine, Rie Takeuchi, Tadashi Watanabe, Futoshi Nishimoto, Kazuhiko Moji, Shigeyuki Kano, Hisami Watanabe, Jun Kobayashi
BACKGROUND: Asymptomatic malaria can be observed in both stable endemic areas and unstable transmission areas. However, although much attention has been given to acute malaria infections, relatively little attention has been paid to asymptomatic malaria. Nonetheless, because the asymptomatic host serves as a reservoir for the malaria parasite, asymptomatic malaria is now recognized as an important obstacle to malaria elimination. Asymptomatic malaria is also associated with anaemia, a global public health problem with serious consequences on human health as well as social and economic development...
October 18, 2016: Malaria Journal
Wai Cheng Foong, Jacqueline J Ho, C Khai Loh, Vip Viprakasit
BACKGROUND: Non-transfusion dependent beta thalassaemia is a subset of inherited haemoglobin disorders characterised by reduced production of the beta globin chain of the haemoglobin molecule leading to anaemia of varying severity. Although blood transfusion is not a necessity for survival, it is required when episodes of chronic anaemia occur. This chronic anaemia can impair growth and affect quality of life. People with non-transfusion dependent beta thalassaemia suffer from iron overload due to their body's increased capability of absorbing iron from food sources...
October 18, 2016: Cochrane Database of Systematic Reviews
A Lazaridis, M E Drosou, A Fontalis, E Prousali, S E Hadwe, O Giouleme, K Petidis
INTRODUCTION: Celiac disease is an autoimmune disease of the small intestine which occurs in genetically predisposed people of all ages. A large clinical spectrum of manifestations accompanies the onset of the disease with diarrhoea, flatulence and weight loss being the most common. However, findings like osteoporosis, iron deficiency, anaemia and hypocalcaemia could also insinuate the existence of the disease. CASE PRESENTATION: We report the case of a 55-year-old man with numbness and tingling of the upper extremities due to hypocalcaemia that proved to be an uncommon case of celiac disease...
October 16, 2016: Scottish Medical Journal
Glenwood Goss, Chun-Ming Tsai, Frances A Shepherd, Lyudmila Bazhenova, Jong Seok Lee, Gee-Chen Chang, Lucio Crino, Miyako Satouchi, Quincy Chu, Toyoaki Hida, Ji-Youn Han, Oscar Juan, Frank Dunphy, Makoto Nishio, Jin-Hyoung Kang, Margarita Majem, Helen Mann, Mireille Cantarini, Serban Ghiorghiu, Tetsuya Mitsudomi
BACKGROUND: Osimertinib (AZD9291) is an oral, potent, irreversible EGFR tyrosine-kinase inhibitor selective for EGFR tyrosine-kinase inhibitor sensitising mutations, and the EGFR Thr790Met resistance mutation. We assessed the efficacy and safety of osimertinib in patients with EGFR Thr790Met-positive non-small-cell lung cancer (NSCLC), who had progressed after previous therapy with an approved EGFR tyrosine-kinase inhibitor. METHODS: In this phase 2, open-label, single-arm study (AURA2), patients aged at least 18 years with centrally confirmed EGFR Thr790Met-positive mutations, locally advanced or metastatic (stage IIIB/IV) NSCLC who progressed on previous EGFR tyrosine-kinase inhibitor therapy received osimertinib 80 mg orally once daily; treatment could continue beyond progression if the investigator observed a clinical benefit...
October 14, 2016: Lancet Oncology
Vipin Tyagi, M D Mustafa, Tusha Sharma, B D Banerjee, Rafat S Ahmed, A K Tripathi, Kiran Guleria
BACKGROUND & OBJECTIVES: Preterm birth (PTB) is an important cause of prenatal death, neonatal morbidity and mortality and adult illness. Increased inflammation occurs in normal parturition, and inflammatory cytokines and oxidative stress are found to be higher in PTB cases. The present study was planned to investigate the association of organochlorine pesticides (OCPs) with mRNA expression of inflammatory pathway genes such as tumour necrosis factor-alpha (TNF-α) and cyclooxygenase-2 (COX-2) in preterm delivery (PTD) cases...
June 2016: Indian Journal of Medical Research
M J Davies, A R Rumbold, J L Marino, K Willson, L C Giles, M J Whitrow, W Scheil, L J Moran, J G Thompson, M Lane, V M Moore
OBJECTIVE: To assess the contribution of maternal factors to major birth defects after in vitro fertilisation (IVF), intracytoplasmic sperm injection (ICSI), and natural conception. DESIGN: Retrospective cohort study in South Australia for the period January 1986 to December 2002. SETTING: A whole of population study. POPULATION: A census of all IVF and ICSI linked to registries for births, pregnancy terminations, and birth defects (diagnosed before a child's fifth birthday)...
October 17, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Carmela E Corallo, Louise Grannell, Huyen Tran
A 62-year-old man was admitted to hospital for elective revision of a left total hip arthroplasty. His history was significant for human immunodeficiency virus (HIV) infection for which he was taking the following antiretroviral agents (ARVs): etravirine, ritonavir, darunavir, raltegravir and tenofovir/emtricitabine. Rivaroxaban 10 mg daily was commenced on the second postoperative day for venous thromboembolism (VTE) prophylaxis. Approximately 24 h later, the patient developed hypotension and anaemia, accompanied by thigh swelling due to bleeding at the surgical site...
December 2015: Drug Saf Case Rep
Philip Y K Pang, Jiasi Zhu, Yoong Kong Sin, Yeow Leng Chua
Most mitral paravalvular leaks (PVLs) occur during the first year after mitral valve replacement (MVR). This report describes the surgical management of 6 patients who developed very late mitral PVLs. The median interval between MVR and initial diagnosis of PVL was 16.5 years. All patients presented with congestive cardiac failure and haemolytic anaemia. The median EuroSCORE II was 9.5%. Two patients (33%) had failed attempts at transcatheter closure. Five patients underwent suture repair of the PVL. One patient underwent MVR after removal of the previous prosthesis...
September 2016: Journal of Thoracic Disease
Corey J Langer, Shirish M Gadgeel, Hossein Borghaei, Vassiliki A Papadimitrakopoulou, Amita Patnaik, Steven F Powell, Ryan D Gentzler, Renato G Martins, James P Stevenson, Shadia I Jalal, Amit Panwalkar, James Chih-Hsin Yang, Matthew Gubens, Lecia V Sequist, Mark M Awad, Joseph Fiore, Yang Ge, Harry Raftopoulos, Leena Gandhi
BACKGROUND: Limited evidence exists to show that adding a third agent to platinum-doublet chemotherapy improves efficacy in the first-line advanced non-small-cell lung cancer (NSCLC) setting. The anti-PD-1 antibody pembrolizumab has shown efficacy as monotherapy in patients with advanced NSCLC and has a non-overlapping toxicity profile with chemotherapy. We assessed whether the addition of pembrolizumab to platinum-doublet chemotherapy improves efficacy in patients with advanced non-squamous NSCLC...
October 10, 2016: Lancet Oncology
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