keyword
MENU ▼
Read by QxMD icon Read
search

one and a half syndrome

keyword
https://www.readbyqxmd.com/read/27933446/permanent-tooth-agenesis-in-non-syndromic-robin-sequence-and-cleft-palate-prevalence-and-patterns
#1
Anneline de Smalen, Daan P F van Nunen, Ruurd R Hermus, Edwin M Ongkosuwito, Arjen J van Wijk, J Peter W Don Griot, Corstiaan C Breugem, Gem J C Kramer
OBJECTIVES: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). MATERIALS AND METHODS: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code...
December 9, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27928436/parathyroidectomy-is-vitamin-d-a-player-for-a-good-outcome
#2
REVIEW
Carsote M, Paduraru Dn, Nica Ae, Valea A
Background: The field of parathyroidectomy (PTx) is complex and brings together many specialists. Even if the surgical approaches changed from classical to minimally invasive PTx, a good outcome is correlated with an adequate localization before and during PTx, while blood assays, such as parathormone (PTH) or 25-hydroxyvitamin D, become useful additional markers. Aim. Specific aspects related to parathyroidectomy and vitamins D (VD) were introduced. Material and Method. The article represents a PubMed-based narrative review...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27921192/actual-10-year-survivors-after-resection-of-hepatocellular-carcinoma
#3
Jian Zheng, Deborah Kuk, Mithat Gönen, Vinod P Balachandran, T Peter Kingham, Peter J Allen, Michael I D'Angelica, William R Jarnagin, Ronald P DeMatteo
BACKGROUND: Resection of hepatocellular carcinoma (HCC) offers a chance of cure, but recurrence is common and survival is often limited. The clinical and pathological characteristics of long-term survivors have not been well studied. METHODS: We retrospectively reviewed 212 patients who underwent partial hepatectomy for HCC with curative intent from 1992 to 2006. Fifty patients who survived beyond 10 years were compared with 109 patients who died of recurrence within 10 years...
December 5, 2016: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/27913716/single-and-multiple-clinical-syndromes-in-incarcerated-offenders-associations-with-dissociative-experiences-and-emotionality
#4
Carlo Garofalo, Patrizia Velotti, Cristina Crocamo, Giuseppe Carrà
The present study examined the prevalence and correlates of clinical syndromes in a large group (N = 438) of incarcerated violent offenders, looking at differences between inmates with one and those with more than one clinical syndromes. More than a half of the sample (57%) reported clinically relevant symptoms for at least one clinical syndrome (n = 252), and the majority of them (38%) reported more syndromes in comorbidity (n = 169). Increased severity of clinical conditions (none, one, more than one syndrome) corresponded with significantly greater levels of personality disorder traits, psychological symptoms, dissociation, and negative emotionality, with large effect sizes...
December 1, 2016: International Journal of Offender Therapy and Comparative Criminology
https://www.readbyqxmd.com/read/27911716/wasp-family-proteins-more-than-arp2-3-activators
#5
REVIEW
Joe J Tyler, Ellen G Allwood, Kathryn R Ayscough
Wiskott-Aldrich syndrome protein (WASP) family proteins have been extensively characterized as factors that promote the nucleation of actin through the activation of the protein complex Arp2/3. While yeast mostly have a single member of the family, mammalian cells have at least six different members, often with multiple isoforms. Members of the family are characterized by a common structure. Their N-termini are varied and are considered to confer spatial and temporal regulation of Arp2/3-activating activity, whereas their C-terminal half contains a polyproline-rich region, one or more WASP homology-2 (WH2) actin-binding domains and motifs that bind directly to Arp2/3...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27910806/epilepsia-partialis-continua-aetiology-semiology-and-prognosis-in-a-spanish-adult-cohort
#6
Helena Bejr-Kasem, Jacint Sala-Padró, Manuel Toledo, Estevo Santamarina, Silvana Sarria, Montserrat Gonzalez-Cuevas, María Sueiras-Gil, Manolo Quintana, Xavier Salas-Puig
To describe the semiological features in patients suffering with Epilepsia Partialis Continua (EPC), also referred as Kozhevnikov syndrome and their relationship with aetiology, duration, and prognosis, as well as recurrence during follow-up. We analysed consecutive EPC patients diagnosed and followed in our centre over a seven-and-a half year period. We collected demographic and clinical data, along with neuroimaging and EEG recordings. All patients were followed for more than six months. Patients were categorised with single body area or multiple body area involvement according to the body parts affected...
December 2, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#7
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27908459/three-single-leg-standing-tests-for-clinical-assessment-of-chronic-plantar-heel-pain-syndrome-static-stance-half-squat-and-heel-rise
#8
B Saban, Y Masharawi
OBJECTIVE: To assess reliability and validity of three single leg standing clinical tests in patients with plantar heel pain syndrome (PHPS). DESIGN: Cross-sectional reliability study. PARTICIPANTS: Forty patients diagnosed with PHPS. MAIN OUTCOME MEASURES: Patients stood on their affected foot in a static stance for up to 30seconds, a half squat for up to 10 repetitions, and a heel rise for up to 10 repetitions. The first sensation of pain (p1) determined the termination of each test, and established a positive test result...
June 29, 2016: Physiotherapy
https://www.readbyqxmd.com/read/27906920/the-electronic-tracking-of-referral-and-attendance-at-cardiac-rehabilitation-in-counties-manukau-health-a-potential-model-for-new-zealand
#9
Andy McLachlan, Fiona Doolan-Noble, Mildred Lee, Katherine McLean, Andrew J Kerr
AIM: Cardiac rehabilitation (CR) programmes for patients surviving an acute coronary syndrome (ACS) event are important and recommended by clinical guidelines. Referral and attendance, however, remain suboptimal and tracking both of these aspects to inform quality improvement has been difficult. The aim of this study was to describe the use of an electronic registry to capture referral and attendance at CR in CMH and to report the characteristics of the initial cohort. METHOD: We developed and implemented an electronic tracking tool, designed to be compatible with ANZAC-QI to monitor referral and attendance in a cohort of patients with confirmed ACS between 1 January 2013 and 1 January 2015...
December 2, 2016: New Zealand Medical Journal
https://www.readbyqxmd.com/read/27899013/in-vitro-antiviral-activity-of-ribavirin-against-severe-fever-with-thrombocytopenia-syndrome-virus
#10
Myung Jin Lee, Kye-Hyung Kim, Jongyoun Yi, Su Jin Choi, Pyoeng Gyun Choe, Wan Beom Park, Nam Joong Kim, Myoung-Don Oh
Background/Aims: Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease caused by severe fever with thrombocytopenia syndrome virus (SFTSV), a novel bunyavirus. As yet, there is no effective antiviral therapy for SFTS. Ribavirin is a broad-spectrum antiviral agent, which has been tried for treatment of SFTS. In this study, antiviral activity of ribavirin against SFTSV has been investigated. Methods: Vero cell-grown SFTSV strain Gangwon/Korea/2012 was treated with ribavirin at various concentrations...
November 30, 2016: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/27899001/drug-interventions-for-the-treatment-of-obesity-in-children-and-adolescents
#11
REVIEW
Emma Mead, Greg Atkinson, Bernd Richter, Maria-Inti Metzendorf, Louise Baur, Nicholas Finer, Eva Corpeleijn, Claire O'Malley, Louisa J Ells
BACKGROUND: Child and adolescent obesity has increased globally, and can be associated with significant short- and long-term health consequences. OBJECTIVES: To assess the efficacy of drug interventions for the treatment of obesity in children and adolescents. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, PubMed (subsets not available on Ovid), LILACS as well as the trial registers ICTRP (WHO) and ClinicalTrials.gov. Searches were undertaken from inception to March 2016...
November 29, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27894567/proportion-of-selected-congenital-heart-defects-attributable-to-recognized-risk-factors
#12
Regina M Simeone, Sarah C Tinker, Suzanne M Gilboa, A J Agopian, Matthew E Oster, Owen J Devine, Margaret A Honein
PURPOSE: To assess the contribution of multiple risk factors for two congenital heart defects-hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). METHODS: We used data from the National Birth Defects Prevention Study (1997-2011) to estimate average adjusted population attributable fractions for several recognized risk factors, including maternal prepregnancy overweight-obesity, pregestational diabetes, age, and infant sex. RESULTS: There were 594 cases of isolated simple HLHS, 971 cases of isolated simple TOF, and 11,829 controls in the analysis...
December 2016: Annals of Epidemiology
https://www.readbyqxmd.com/read/27883178/genotype-phenotype-correlation-in-44-czech-slovak-croatian-and-serbian-patients-with-mucopolysaccharidosis-type-ii
#13
Lenka Dvorakova, Hana Vlaskova, Adrijan Sarajlija, Danijela Petkovic Ramadza, Helena Poupetova, Eva Hruba, Anna Hlavata, Vladimir Bzduch, Karolina Peskova, Gabriela Storkanova, Bozica Kecman, Maja Djordjevic, Ivo Baric, Ksenija Fumic, Ingeborg Barisic, Martin Reboun, Jan Kulhanek, Jiri Zeman, Martin Magner
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analysed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27881658/porcine-reproductive-and-respiratory-syndrome-virus-antagonizes-jak-stat3-signaling-via-nsp5-by-inducing-stat3-degradation
#14
Liping Yang, Rong Wang, Zexu Ma, Yueqiang Xiao, Yuchen Nan, Yu Wang, Shaoli Lin, Yan-Jin Zhang
: Signal transducer and activator of transcription 3 (STAT3) is a pleiotropic signaling mediator of many cytokines including interleukin-6 (IL-6) and IL-10. STAT3 is known to play critical roles in cell growth, proliferation, differentiation, immunity and inflammatory responses. The objective of this study was to determine the effect of porcine reproductive and respiratory syndrome virus (PRRSV) infection on the STAT3 signaling since PRRSV induces a weak protective immune response in host animals...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27878411/reckless-administration-of-qt-interval-prolonging-agents-in-elderly-patients-with-drug-induced-torsade-de-pointes
#15
Galia Jackobson, Narin Nard Carmel, Dor Lotan, Anjelika Kremer, Dan Justo
A systematic review was conducted for all published case reports on drug-induced torsade de pointes (TdP) in elderly (≥80 years) patients to study if the administration of the offending agent was reckless. Overall, 61 reports on drug-induced TdP in patients aged 80-97 years were included in the analysis. Non-modifiable risk factors for drug-induced TdP (e.g. acute coronary syndrome, female gender and congestive heart failure), modifiable risk factors (e.g. hypokalemia, severe hypomagnesemia and digitalis toxicity) and reckless administration of a QT interval-prolonging agent (e...
November 22, 2016: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/27876405/lower-urinary-tract-symptoms-in-children-and-adolescents-with-williams-beuren-syndrome
#16
Z M Sammour, J de Bessa, M Hisano, H Bruschini, C A Kim, M Srougi, C M Gomes
INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic condition caused by a microscopic deletion in the chromosome band 7q11.23. Individuals with WBS may present with congenital cardiovascular defects, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Lower urinary tract symptoms (LUTS) seem to be frequent in this population, but studies on this topic are scarce and based on small case series. OBJECTIVE: To systematically evaluate the prevalence of lower urinary tract symptoms (LUTS) and the acquisition of bladder control in a large population with WBS...
November 2, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27856381/what-questionnaires-to-use-when-measuring-quality-of-life-in-sacral-tumor-patients-the-updated-sacral-tumor-survey
#17
Olivier D R van Wulfften Palthe, Stein J Janssen, Jay S Wunder, Peter C Ferguson, Guo Wei, Peter S Rose, Micheal J Yaszemski, Franklin H Sim, Patrick J Boland, John H Healey, Francis J Hornicek, Joseph H Schwab
BACKGROUND CONTEXT: Patient-reported outcomes are becoming increasingly important when investigating results of patient and disease management. In sacral tumor, the symptoms of patients can vary substantially; therefore, no single questionnaire can adequately account for the full spectrum of symptoms and disability. PURPOSE: The purpose of this study is to analyze redundancy within the current sacral tumor survey and make a recommendation for an updated version based on the results and patient and expert opinions...
November 14, 2016: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/27856223/-transcient-ischemic-attack-a-rare-manifestation-of-eagle-syndrome
#18
J Usseglio, F Macian Montoro, S Martin, J Lerat, J Laloze, A Taibi, J Brie
INTRODUCTION: Clinical presentation of Eagle syndrome (ES) is very variable and non-specific, making its diagnosis difficult. It is usually limited to pain. Transient neurological manifestations are exceptional. We report one case in which the diagnosis of ES has been made based on neurological events occurring during left anterolateral head bending, without pain. OBSERVATION: A 47-year-old man presented with transient neurological events progressing since two years, half-right body paresthesia and reduced field of vision on the left side type, triggered by left anterolateral head flexion and regressive in neutral position...
December 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
https://www.readbyqxmd.com/read/27849623/successful-transition-to-sulfonylurea-therapy-in-two-iraqi-siblings-with-neonatal-diabetes-mellitus-and-idend-syndrome-due-to-abcc8-mutation
#19
Elif Ozsu, Dinesh Giri, Gulcan Seymen Karabulut, Senthil Senniappan
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27846293/assessment-of-intrathecal-free-light-chain-synthesis-comparison-of-different-quantitative-methods-with-the-detection-of-oligoclonal-free-light-chains-by-isoelectric-focusing-and-affinity-mediated-immunoblotting
#20
David Zeman, Pavlína Kušnierová, Zdeněk Švagera, František Všianský, Monika Byrtusová, Pavel Hradílek, Barbora Kurková, Olga Zapletalová, Vladimír Bartoš
OBJECTIVES: We aimed to compare various methods for free light chain (fLC) quantitation in cerebrospinal fluid (CSF) and serum and to determine whether quantitative CSF measurements could reliably predict intrathecal fLC synthesis. In addition, we wished to determine the relationship between free kappa and free lambda light chain concentrations in CSF and serum in various disease groups. METHODS: We analysed 166 paired CSF and serum samples by at least one of the following methods: turbidimetry (Freelite™, SPAPLUS), nephelometry (N Latex FLC™, BN ProSpec), and two different (commercially available and in-house developed) sandwich ELISAs...
2016: PloS One
keyword
keyword
39769
1
2
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"