Read by QxMD icon Read

Lowe Syndrome

Richard Ac Hughes, Ruth Brassington, Angela A Gunn, Pieter A van Doorn
BACKGROUND: Guillain-Barré syndrome (GBS) is an acute paralysing disease caused by inflammation of the peripheral nerves, which corticosteroids would be expected to benefit. OBJECTIVES: To examine the ability of corticosteroids to hasten recovery and reduce the long-term morbidity from GBS. SEARCH METHODS: On 12 January 2016, we searched the Cochrane Neuromuscular Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and Embase...
October 24, 2016: Cochrane Database of Systematic Reviews
Dong Hoon Suh, Miseon Kim, Hak Jae Kim, Kyung Hun Lee, Jae Weon Kim
In 2015, fourteen topics were selected as major research advances in gynecologic oncology. For ovarian cancer, high-level evidence for annual screening with multimodal strategy which could reduce ovarian cancer deaths was reported. The best preventive strategies with current status of evidence level were also summarized. Final report of chemotherapy or upfront surgery (CHORUS) trial of neoadjuvant chemotherapy in advanced stage ovarian cancer and individualized therapy based on gene characteristics followed...
November 2016: Journal of Gynecologic Oncology
Thayse Bienert Goetze, Pricila Sleifer, Rafael Fabiano Machado Rosa, Alessandra Pawelec da Silva, Carla Graziadio, Paulo Ricardo Gazzola Zen
Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service...
October 24, 2016: American Journal of Medical Genetics. Part A
Marta Canuti, Kimberly E O'Leary, Bruce D Hunter, Grant Spearman, Davor Ojkic, Hugh G Whitney, Andrew S Lang
Aleutian mink disease virus (AMDV) causes plasmacytosis, an immune complex-associated syndrome that affects wild and farmed mink. The virus can also infect other small mammals (e.g., ferrets, skunks, ermines, and raccoons), but the disease in these hosts has been studied less. In 2007, a mink plasmacytosis outbreak began on the Island of Newfoundland, and the virus has been endemic in farms since then. In this study, we evaluated the molecular epidemiology of AMDV in farmed and wild animals of Newfoundland since before the beginning of the outbreak and investigated the epidemic in a global context by studying AMDV worldwide, thereby examining its diffusion and phylogeography...
January 2016: Virus Evolution
Jianguo Ma, Yuan Luo, René R Sevag Packard, Teng Ma, Yichen Ding, Parinaz Abiri, Yu-Chong Tai, Qifa Zhou, Kirk K Shung, Rongsong Li, Tzung Hsiai
Plaque rupture causes acute coronary syndromes and stroke. Intraplaque oxidized low density lipoprotein (oxLDL) is metabolically unstable and prone to induce rupture. We designed an intravascular ultrasound (IVUS)-guided electrochemical impedance spectroscopy (EIS) sensor to enhance the detection reproducibility of oxLDL-laden plaques. The flexible 2-point micro-electrode array for EIS was affixed to an inflatable balloon anchored onto a co-axial double layer catheter (outer diameter = 2 mm). The mechanically scanning-driven IVUS transducer (45 MHz) was deployed through the inner catheter (diameter = 1...
November 1, 2016: Sensors and Actuators. B, Chemical
Stephanie Seneff, Nancy L Swanson, Gerald Koenig, Chen Li
Osteonecrosis of the jaw (ONJ), a rare side effect of bisphosphonate therapy, is a debilitating disorder with a poorly understood etiology. FDA's Adverse Event Reporting System (FAERS) provides the opportunity to investigate this disease. Our goals were to analyze FAERS data to discover possible relationships between ONJ and specific conditions and drugs and then to consult the scientific literature to deduce biological explanations. Our methodology revealed a very strong association between gastroesophageal reflux and bisphosphonate-induced ONJ, suggesting acidosis as a key factor...
2016: Disease Markers
Ankana Daga, Fredrick Dapaah-Siakwan, Sharina Rajbhandari, Cassandra Arevalo, Agnes Salvador
BACKGROUND: Acute kidney injury (AKI) is common in critically ill premature infants. There is a lack of consensus on the diagnostic definition of AKI in very low birth weight (VLBW) infants. The primary aim of this study was to determine the incidence and risk factors for AKI in VLBW infants using the AKI network (AKIN) and pRIFLE (pediatric Risk, Injury, Failure, Loss, End-Stage) criteria and to evaluate whether Clinical Risk Index for Babies (CRIB II) score is a predictor of AKI. The secondary objective was to determine the extent of agreement between the AKIN and pRIFLE criteria in the diagnosis of AKI in VLBW infants...
September 28, 2016: Pediatrics and Neonatology
Ramiro Chavez-Montoya, Osvaldo Araujo-Ramírez, Irma Yolanda Castillo-López, Luis Humberto Govea-Camacho
BACKGROUND: Silent sinus or imploding antrum syndrome is a very rare condition, consisting of a usually asymptomatic spontaneous collapse of the sinus walls and floor of the orbit. It is associated with negative pressures, and when this occurs, it presents with manifestations such as enophthalmos, hypoglobus, and tilt flow orbital floor. As its incidence is very low, it is frequently missed as a diagnosis, and in fact there are currently fewer than 150 cases reported in the literature...
October 20, 2016: Cirugia y Cirujanos
Eun Bin Cho, Ju-Hong Min, Hye-Jin Cho, Jin Myoung Seok, Hye Lim Lee, Hee Young Shin, Kwang-Ho Lee, Byoung Joon Kim
BACKGROUND: Neuromyelitis optica (NMO) sometimes coexists with serological marker-positive, non-organ-specific autoimmune disorders. We evaluated the prevalence of thyroid dysfunction and anti-thyroid antibodies in patients with NMO spectrum disorder (NMOSD) and investigated the associations between thyroid dysfunction/autoimmunity and clinical features of NMOSD. METHODS: Forty-nine NMOSD patients with anti-aquaporin-4 antibody and 392 age- and sex-matched healthy controls were included...
November 15, 2016: Journal of the Neurological Sciences
Sebastian Kohlmann, Benjamin Gierk, Anja Hilbert, Elmar Brähler, Bernd Löwe
OBJECTIVE: The comorbidity of somatic, anxious and depressive syndromes occurs in half of all primary care cases. As research on this overlap of syndromes in the general population is scarce, the present study investigated the prevalence of the overlapping syndromes and their association with health care use. METHOD: A national general population survey was conducted between June and July 2012. Trained interviewers contacted participants face-to-face, during which, individuals reported their health care use in the previous 12months...
November 2016: Journal of Psychosomatic Research
Chengfu Cai, Mingzhu Lin, Yanfang Xu, Xuejun Li, Shuyu Yang, Huijie Zhang
BACKGROUND: Neuregulin 4 (Nrg4) is a secreted adipokine recently identified as playing an important role in modulating systemic energy metabolism and the development of obesity-associated disorders. However, information is not available regarding the association between circulating Nrg4 and risk of metabolic syndrome (MetS) in humans. METHODS: We measured serum Nrg4 in 1212 obese adult subjects (aged 40 years or older), with a waist circumference greater than 90 cm for men or 80 cm for women, recruited from the community...
October 24, 2016: BMC Medicine
Goran Cuturilo, Danijela Drakulic, Ida Jovanovic, Aleksandar Krstic, Milan Djukic, Dejan Skoric, Marija Mijovic, Igor Stefanovic, Milena Milivojevic, Milena Stevanovic
OBJECTIVE: The incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome. DESIGN: Prospective study. SETTING: University Childrens Hospital in Belgrade, Serbia between 2005 and 2014. PARTICIPANTS: 57 patients with clinical characteristics of 22q11.2 deletion syndrome. METHODS: Standard G-banding cytogenetic analysis was performed in all children, and the 22q11...
September 8, 2016: Indian Pediatrics
Anju Saraswat, John Bach, William D Watson, John O Elliott, Edward P Dominguez
BACKGROUND: Current surgical education relies on simulated educational experiences or didactic sessions to teach low-frequency clinical events such as abdominal compartment syndrome (ACS). The purpose of this pilot study was to evaluate if simulation would improve performance and knowledge retention of ACS better than a didactic lecture. METHODS: Nineteen general surgery residents were block randomized by postgraduate year level to a didactic or a simulation session...
August 4, 2016: American Journal of Surgery
Rachid Chati, Emmanuel Huet, Lucie Grimberg, Lilian Schwarz, Jean-Jacques Tuech, Valérie Bridoux M D Ph D
BACKGROUND: Digestive surgery training is notoriously difficult and medical students choose this path less and less often leading to a veritable demographic crisis for this specialty in France. The aim of this study was to evaluate the working conditions to measure the prevalence of burnout syndrome (BOS) and to identify potential risk factors to implement preventive measures and appropriate support. METHODS: This was a multicenter, cross-sectional study. An anonymous questionnaire was sent by e-mail to 500 French digestive surgeons in training (residents and fellows)...
August 31, 2016: American Journal of Surgery
Rory J McCrimmon
Despite the introduction of newer technologies and improved insulin formulations, recurrent hypoglycaemia continues to affect the lives of many people with Type 1 and Type 2 diabetes. Developing strategies or therapies designed to prevent or minimize hypoglycaemia risk is of utmost importance to help individuals safely achieve glycaemic targets. Novel, educational or behavioural approaches need to be based on a clear understanding of the mechanisms underpinning both the detection of hypoglycaemia and why repeated exposure to hypoglycaemia leads to the development of a clinical syndrome referred to as impaired awareness of hypoglycaemia...
October 22, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
Guan-Yu Lin, Yu-Kai Lin, Jiunn-Tay Lee, Meei-Shyuan Lee, Chun-Chieh Lin, Chia-Kuang Tsai, Chi-Hsin Ting, Fu-Chi Yang
BACKGROUND: Although the comorbidity of migraine and restless legs syndrome (RLS) has been well-documented, the association between RLS and migraine frequency has yet to be elucidated. The present study aims to evaluate the prevalence of RLS among individuals who experience low-frequency, high-frequency, or chronic migraine presenting with and without aura. METHODS: We conducted a cross-sectional, case-controlled study involving 505 participants receiving outpatient headache treatment...
December 2016: Journal of Headache and Pain
Anne-Maree Kelly, Sharon Klim
BACKGROUND: To determine the rate of all cause and cardiac death, new myocardial infarction (MI) or coronary revascularisation at over three years from index visit in emergency department chest pain patients without known coronary artery disease (CAD) at index presentation who had a negative electrocardiogram (ECG) and biomarker workup for acute coronary syndrome (ACS). METHODS: An unplanned sub-study of a prospective observational study of consecutive adult patients presenting to the ED with atraumatic chest pain (or equivalents)...
September 13, 2016: Heart, Lung & Circulation
F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
October 18, 2016: Journal Français D'ophtalmologie
Hongli Li, Victoria M Hitchins, Samanthi Wickramasekara
Bacterial endotoxins are lipopolysaccharides bound to the bacterial cell wall and released when bacteria rupture or disintegrate. Possible contamination of endotoxin in ophthalmic devices can cause a painful eye inflammation or result in toxic anterior segment syndrome after cataract surgery. Measurement of bacterial endotoxin in medical device materials is difficult since endotoxin binds with polymer matrix and some of the materials are very viscous and non-water soluble, where traditional enzyme-based Limulus amebocyte lysate (LAL) assay cannot be applied...
November 2, 2016: Analytica Chimica Acta
S Micheletti, F Palestra, P Martelli, P Accorsi, J Galli, L Giordano, V Trebeschi, E Fazzi
BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11...
October 21, 2016: Italian Journal of Pediatrics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"