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Lowe Syndrome

Tharangrut Hanprasertpong, Kasem Raungrongmorakot, Alan Geater, Pawin Puapornpong, Wipada Laosooksathit, Aurasa Hemachandra, Maysita Suksamarnwong
Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Norma Amador-Licona, Evelin Valeria Moreno-Vargas, Claudia Martinez-Cordero
INTRODUCTION: The daily protein recommendation for adults is 0.8 g/kg/day; however, several studies argue that an intake of 1.0-1.5 g protein/kg/day could benefit the health of the elderly. OBJECTIVE: We evaluated the protein intake and serum lipid levels in elderly patients with hip fracture, determining their correlation with the grip strength in both hands. METHODS: The study included 47 adult patients aged 65-85 years hospitalized for recent hip fracture...
January 10, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Elpidio Santillo, Monica Migale, Carlo Massini, Raffaele Antonelli Incalzi
BACKGROUND: Levosimendan is a calcium sensitizer drug causing increased contractility in the myocardium and vasodilation in the vascular system. It is mainly used for the therapy of acute decompensated heart failure. Several studies on animals and humans provided evidence of the cardioprotective properties of levosimendan including preconditioning and anti-apoptotic. In view of these favorable effects, levosimendan has been tested in patients undergoing cardiac surgery for the prevention or treatment of low cardiac output syndrome...
March 21, 2018: Current Cardiology Reviews
U Hassan, R Zhu, R Bashir
Sepsis, as a leading cause of death worldwide, relies on systemic inflammatory response syndrome (SIRS) criteria for its diagnosis. SIRS is highly non-specific as it relies on monitoring of patients' vitals for sepsis diagnosis, which are known to change with many confounding factors. Changes in leukocyte counts and CD64 expression levels are known specific biomarkers of pro-inflammatory host response at the onset of sepsis. Recently, we have developed a biosensor chip that can enumerate the leukocyte counts and quantify the neutrophil CD64 expression levels from a drop of blood...
March 22, 2018: Lab on a Chip
Young Nam Kwon, Sung Sang Yoon, Kyung-Hag Lee
Background: Sarcopenia causes loss of muscle mass in the elderly and is associated with development of metabolic syndrome in those with obesity. This study evaluated the prevalence of sarcopenic obesity (SO) in healthy Korean elderly women. Methods: This study was based on data from the Korea National Health and Nutrition Examination Survey IV and V, 2008-2011. Whole body dual energy X-ray absorptiometry and body mass index measurement were performed for all patients...
February 2018: Journal of Bone Metabolism
Sethulakshmi Sreevalsam Anil, Badr Ratnakaran, Nisha Suresh
Hyponatremia has been reported with the use of psychotropic drugs. Olanzapine does not find much mention as a cause of hyponatremia in literature; however, it has been found to be the second most frequently reported atypical antipsychotic to cause it. We report a case of hyponatremia due to syndrome of inappropriate antidiuretic hormone secretion which occurred at a rapid onset following the administration of low-dose olanzapine during inpatient treatment of a patient with bipolar disorder. We would like to highlight our case for the need to be vigil about such fatal side complications apart from metabolic side effects of atypical antipsychotics...
October 2017: Journal of Family Medicine and Primary Care
Gunjan Kumar, Josyula G Prasuna, Gaurav Seth
Background: The issue of menstrual hygiene is inadequately acknowledged in our nation. The use of sanitary pads and washing the genital area are essential practices for good menstrual hygiene. Poor menstrual hygiene may lead to itching or rashes in the perineal region, bad odor, and sometimes, major complications such as pelvic inflammatory disease and toxic shock syndrome. Therefore, the objective of this study was to assess the knowledge and practice of menstrual hygiene among reproductive age group women...
October 2017: Journal of Family Medicine and Primary Care
Ana Aires, Maria Dos Anjos Teixeira, Catarina Lau, Cláudia Moreira, Ana Spínola, Alexandra Mota, Inês Freitas, Jorge Coutinho, Margarida Lima
Background: Immunophenotypic analysis of the bone marrow (BM) cells has proven to be helpful in the diagnosis of Myelodysplastic Syndromes (MDS). However, the usefulness of flow cytometry (FCM) for the detection of myelodysplasia in the peripheral blood (PB) still needs to be investigated. The aim of this pilot study was to evaluate the value of FCM-based PB neutrophil and monocyte immunophenotyping for the diagnosis of lower risk MDS (LR-MDS). Methods: We evaluated by 8-color FCM the expression of multiple cell surface molecules (CD10, CD11b, CD11c, CD13, CD14, CD15, CD16, CD34, CD45, CD56, CD64 and HLA-DR) in PB neutrophils and monocytes from a series of 14 adult LR-MDS patients versus 14 normal individuals...
2018: BMC Hematology
Jun Muratsu, Masahiro Koseki, Daisaku Masuda, Yuji Yasuga, Satoki Tomoyama, Keiji Ataka, Yoshiki Yagi, Atsushi Nakagawa, Hidehumi Hamada, Shigeki Fujita, Hiroaki Hattori, Tohru Ohama, Makoto Nishida, Hisatoyo Hiraoka, Yuji Matsuzawa, Shizuya Yamashita
We report a case of Tangier disease with Leriche syndrome and bleeding tendency. In this male patient, nasal hemorrhage had been observed frequently throughout childhood. At 46 years old, he experienced effort angina, and coronary angiography demonstrated 75% stenosis in the right coronary artery. Orange-colored tonsils, mild hepatosplenomegaly and very low levels of serum high-density lipoprotein cholesterol (HDL-C) were observed, and the patient was diagnosed with Tangier disease. At 52 years old, effort angina recurred...
March 20, 2018: Journal of Atherosclerosis and Thrombosis
Arthur J Vaught, Evan M Braunstein, Jagar Jasem, Xuan Yuan, Igor Makhlin, Solange Eloundou, Andrea C Baines, Samuel A Merrill, Shruti Chaturvedi, Karin Blakemore, C John Sperati, Robert A Brodsky
BACKGROUND: HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is a severe variant of hypertensive disorders of pregnancy affecting approximately 1% of all pregnancies, and has significant maternal and fetal morbidity. Previously, we showed that upregulation of the alternative pathway of complement (APC) plays a role in HELLP syndrome. We hypothesize that HELLP syndrome follows a 2-hit disease model similar to atypical hemolytic uremic syndrome (aHUS), requiring both genetic susceptibility and an environmental risk factor...
March 22, 2018: JCI Insight
Carolyn E Wilshire, Tom Kindlon, Robert Courtney, Alem Matthees, David Tuller, Keith Geraghty, Bruce Levin
BACKGROUND: The PACE trial was a well-powered randomised trial designed to examine the efficacy of graded exercise therapy (GET) and cognitive behavioural therapy (CBT) for chronic fatigue syndrome. Reports concluded that both treatments were moderately effective, each leading to recovery in over a fifth of patients. However, the reported analyses did not consistently follow the procedures set out in the published protocol, and it is unclear whether the conclusions are fully justified by the evidence...
March 22, 2018: BMC Psychology
Kai-Wen Chen, Fan-Chun Meng, Yu-Lueng Shih, Fang-Ying Su, Yen-Po Lin, Felicia Lin, Jia-Wei Lin, Wei-Kuo Chang, Chung-Jen Lee, Yi-Hwei Li, Chung-Bao Hsieh, Gen-Min Lin
The association of metabolic syndrome (MetS) components with elevated serum alanine aminotransferase (ALT) levels, a marker of hepatic injury, may differ between men and women. However, the sex-specific association in a military young population which has a low prevalence of MetS was unclear. We conducted a cross-sectional examination in 6738 men and 766 women, aged 18-50 years, from the cardiorespiratory fitness study in armed forces (CHIEF) in eastern Taiwan. The components of MetS were defined according to the updated International Diabetes Federation (IDF) ethnic criteria for Asians...
March 19, 2018: International Journal of Environmental Research and Public Health
A Thibaut, S Wannez, T Deltombe, G Martens, S Laureys, C Chatelle
BACKGROUND: Spasticity is a frequent complication after severe brain injury, which may prevent the rehabilitation process and worsen the patients' quality of life. OBJECTIVES: In this study, we investigated the correlation between spasticity, muscle contracture, and the frequency of physical therapy (PT) in subacute and chronic patients with disorders of consciousness (DOC). METHODS: 109 patients with subacute and chronic disorders of consciousness (Vegetative state/Unresponsive wakefulness syndrome - VS/UWS; minimally conscious state - MCS and patients who emerged from MCS - EMCS) were included in the study (39 female; mean age: 40±13...
2018: NeuroRehabilitation
Tae June Park, Ho Jun Lee, Jae Seong Kim, Kiyeun Nam
BACKGROUND: Posterior epidural lumbar disc fragment is infrequent because of anatomical barriers, and it is difficult to diagnose posterior epidural lumbar disc fragment because of its rare incidence and the ambiguity of radiologic evaluations. And it is difficult to differentiate it from other diseases such as spinal tumors. OBJECTIVE: Differential diagnosis of posterior epidural lumbar disc fragment is clinically important because its diagnosis can affect treatment and prognosis...
March 9, 2018: Journal of Back and Musculoskeletal Rehabilitation
X Y Zhao, J X Li, X F Tang, Y Xian, J J Xu, Y Song, L Jiang, L J Xu, J Chen, Y Zhang, L Song, L J Gao, Z Gao, J Zhang, Y Wu, S B Qiao, Y J Yang, R L Gao, B Xu, J Q Yuan
Objective: To evaluate the predictive value of GRACE discharge score on the long-term out-of-hospital coronary thrombotic events (CTE) after percutaneous coronary intervention (PCI) with drug-eluting stents. Methods: Present study was a prospective, observational, single center study. 10 724 consecutive patients underwent PCI in Fuwai Hospital between January and December 2013 were included, stents were implanted with conventional method. After PCI, patients were prescribed aspirin 100 mg once daily indefinitely, and either clopidogrel 75 mg once daily or ticagrelor 90 mg twice daily for at least 1 year...
March 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
Shalender Bhasin, Juan P Brito, Glenn R Cunningham, Frances J Hayes, Howard N Hodis, Alvin M Matsumoto, Peter J Snyder, Ronald S Swerdloff, Frederick C Wu, Maria A Yialamas
Objective: To update the "Testosterone Therapy in Men With Androgen Deficiency Syndromes" guideline published in 2010. Participants: The participants include an Endocrine Society-appointed task force of 10 medical content experts and a clinical practice guideline methodologist. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation approach to describe the strength of recommendations and the quality of evidence...
March 17, 2018: Journal of Clinical Endocrinology and Metabolism
Joana Vieira, Gonçalo Nunes, Carla Adriana Santos, Jorge Fonseca
BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) is a gold standard for long term enteral feeding. Neurologic dysphagia and head/neck cancer are the most common indications for PEG as they can lead to protein-energy malnutrition and serum electrolyte abnormalities, with potential negative impact on metabolic balance. Refeeding syndrome may also be related with severe electrolyte changes in PEG-fed patients and contribute to poor prognosis. OBJECTIVE: This study aims to evaluate the changes in serum concentrations of the main electrolytes and its possible association with the outcome...
January 2018: Arquivos de Gastroenterologia
Dan Lu, Jun Liu, Yuan Chen, Fei Chen, Hui Yang
RATIONALE: Ganglioneuroblastoma is usually located in the adrenal gland, retroperitoneal ganglia, or posterior mediastinum, but rarely occurs in the parapharyngeal space. PATIENT CONCERNS: A 4-year-old girl presented with complaint of progressive inspiratory dyspnea and dysphagia, accompanying left-side Horner's syndrome. DIAGNOSE: Computed tomography (CT) scan revealed a giant mass with irregular low density in left oropharyngeal and posterior pharyngeal wall...
March 2018: Medicine (Baltimore)
Anthony S Wierzbicki, Timothy M Reynolds, Adie Viljoen
PURPOSE OF REVIEW: A number of novel trials have assessed the efficacy of new lipid-lowering therapies in cardiovascular disease (CVD). RECENT FINDINGS: Proprotein convertase subtilisin kexin-9 inhibitors reduce low-density lipoprotein cholesterol (LDL-C) by 50-55%. A CVD outcome trial in patients with acute coronary syndromes with evolocumab achieved a LDL-C of 0.8 mmol/l (31 mg/dl) and a 20% relative risk reduction in CVD events in 2.2 years. Cholesterol ester transfer protein inhibitors raise high-density lipoprotein cholesterol and can lower LDL-C...
March 19, 2018: Current Opinion in Cardiology
Emmanuel Marret, Raphael Cinotti, Laurence Berard, Vincent Piriou, Jacques Jobard, Benoit Barrucand, Dragos Radu, Samir Jaber, Francis Bonnet
BACKGROUND: Thoracic surgery for lung resection is associated with a high incidence of postoperative pulmonary complications. Controlled ventilation with a large tidal volume has been documented to be a risk factor for postoperative respiratory complications after major abdominal surgery, whereas the use of low tidal volumes and positive end-expiratory pressure (PEEP) has a protective effect. OBJECTIVE: To evaluate the effects of ventilation with low tidal volume and PEEP on major complications after thoracic surgery...
March 19, 2018: European Journal of Anaesthesiology
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