keyword
MENU ▼
Read by QxMD icon Read
search

Syndrome

keyword
https://www.readbyqxmd.com/read/28738459/-gene-gene-interaction-on-central-obesity-in-school-aged-children-in-china
#1
L W Fu, M X Zhang, L J Wu, L W Gao, J Mi
Objective: To investigate possible effect of 6 obesity-associated SNPs in contribution to central obesity and examine whether there is an interaction in the 6 SNPs in the cause of central obesity in school-aged children in China. Methods: A total of 3 502 school-aged children who were included in Beijing Child and Adolescent Metabolic Syndrome (BCAMS) Study were selected, and based on the age and sex specific waist circumference (WC) standards in the BCAMS study, 1 196 central obese cases and 2 306 controls were identified...
July 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28738451/psychiatric-comorbidity-in-patients-with-irritable-bowel-syndrome-at-a-tertiary-care-center-in-northern-india
#2
Yuman Kawoos, Zaid A Wani, Showkat A Kadla, Irfan A Shah, Arshad Hussain, M Maqbool Dar, Mushtaq A Margoob, Kouser Sideeq
Background/Aims: Irritable bowel syndrome (IBS) is a chronic psycho-physiological disorder. It is considered to be the most common functional gastrointestinal disorder, and about 50.0-90.0% of IBS patients have associated psychiatric comorbidity. We aimed to study psychiatric comorbidities in patients with IBS visiting a tertiary care center. Methods: This was a cross-sectional case-control study conducted over a duration of one and a half years from January 2014 to July 2015...
July 21, 2017: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/28738378/akt-mtor-signaling-mediates-abnormalities-in-the-proliferation-and-apoptosis-of-ovarian-granulosa-cells-in-patients-with-polycystic-ovary-syndrome
#3
Wan-Juan Song, Xiaobo Shi, Jing Zhang, Luo Chen, Shu-Xin Fu, Yi-Ling Ding
BACKGROUND/AIMS: Abnormal apoptosis of granulosa cells (GCs) is thought to involve in the pathogenesis of polycystic ovary syndrome (PCOS); however, the associated cellular and molecular mechanisms remain unclear. METHODS: Primary GCs were obtained from healthy women and women with PCOS. The cell proliferation and apoptosis were analyzed in insulin-stimulated and insulin receptor gene (INSR) siRNA-transfected GCs. The protein expression of Akt-mTOR-S6K1 signal molecules was measured by Western blot...
July 22, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28738374/multilevel-obstructive-sleep-apnea-surgery
#4
Hsin-Ching Lin, Edward M Weaver, Ho-Sheng Lin, Michael Friedman
Continuous positive airway pressure (CPAP) is the primary treatment of obstructive sleep apnea/hypopnea syndrome (OSA). Most sleep physicians are in agreement that a certain number of OSA patients cannot or will not use CPAP. Although other conservative therapies, such as oral appliance, sleep hygiene, and sleep positioning, may help some of these patients, there are many who fail all conservative treatments. As sleep surgeons, we have the responsibility to screen patients for both symptoms and signs of OSA...
2017: Advances in Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28738350/unilateral-sensorineural-hearing-loss-medical-context-and-etiology
#5
Antoine Paul, Sandrine Marlin, Marine Parodi, Isabelle Rouillon, Joanne Guerlain, Véronique Pingault, Vincent Couloigner, Erea Noel Garabedian, Françoise Denoyelle, Natalie Loundon
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population. METHODS: The study is a retrospective review. Characteristics of hearing loss (HL), audiometric parameters, imaging, and genetic and medical contexts were analyzed. RESULTS: Eighty children were included...
July 22, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28738335/miller-dieker-syndrome-due-to-a-5-5-mb-17p-deletion-in-a-17-y-pseudodicentric-chromosome
#6
Fernanda T Bellucco, Natália Nunes, Mileny E S Colovati, Andréa C M Malinverni, Thamy P Caneloi, Maria F Soares, Ana B A Perez, Maria I Melaragno
Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45 chromosomes. Apart from the deletion of the MDS critical region, the deletion of additional distal genes seemed to have no major influence on the patient's phenotype, since he did not show any unusual clinical findings that are not commonly described in MDS patients...
July 22, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28738298/laparoscopic-treatment-of-dunbar-syndrome-a-case-report
#7
Orlando Jorge M Torres, Ozimo Pereira Gama-Filho, Camila Cristina Salazar Torres, Ricardo Mary Medeiros, Caio Márcio Barros Oliveira
BACKGROUND: Dunbar syndrome is a rare disorder due to external compression of the celiac trunk by the median arcuate ligament. The symptoms include abdominal pain, nausea and vomiting. Laparoscopic treatment was suggested as a safe procedure. The aim of this study is to present a case of Dunbar syndrome underwent laparoscopic treatment. CASEPRESENTATION: A 17-year-old female patient presented at emergency room with upper abdominal pain and dyspepsia, related to food intake...
July 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28738275/early-childhood-myoclonic-epilepsy-an-independent-genetic-generalized-epilepsy-with-myoclonic-seizures-as-the-main-seizure-type
#8
Zhixian Yang, Jiao Xue, Hui Li, Ping Qian, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang
OBJECTIVE: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. METHODS: Forty-two children were retrospectively recruited between January 2006 and June 2015. RESULTS: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences...
July 6, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28738222/thinking-inside-the-box-spatial-frames-of-reference-for-drawing-in-williams-syndrome-and-typical-development
#9
Kerry D Hudson, Emily K Farran
BACKGROUND: Successfully completing a drawing relies on the ability to accurately impose and manipulate spatial frames of reference for the object that is being drawn and for the drawing space. Typically developing (TD) children use cues such as the page boundary as a frame of reference to guide the orientation of drawn lines. Individuals with Williams syndrome (WS) typically produce incohesive drawings; this is proposed to reflect a local processing bias. AIMS: Across two studies, we provide the first investigation of the effect of using a frame of reference when drawing simple lines and shapes in WS and TD groups (matched for non-verbal ability)...
July 21, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28738196/parental-age-and-the-risk-of-obsessive-compulsive-disorder-and-tourette-syndrome-chronic-tic-disorder-in-a-nationwide-population-based-sample
#10
Roshan Chudal, Susanna Leivonen, Hanna Rintala, Susanna Hinkka-Yli-Salomäki, Andre Sourander
OBJECTIVES: Advancing paternal age has been associated with several neuropsychiatric disorders in children. However, there is limited understanding of this association with obsessive compulsive disorder (OCD) and Tourette syndrome/chronic tic disorder (TS/CT) with inconsistent findings. We examined the association between parental age and offspring OCD and TS/CT. METHODS: This nested case-control study used the Finnish Hospital Discharge Register (FHDR) to identify 1358 individuals with OCD and 1195 with TS/CT, born from 1991 to 2009 and diagnosed by 2010...
July 18, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28738111/topical-clonazepam-solution-for-the-management-of-burning-mouth-syndrome-a-retrospective-study
#11
Michal Kuten-Shorrer, Nathaniel S Treister, Shannon Stock, John M Kelley, Yisi D Ji, Sook-Bin Woo, Mark A Lerman, Stefan Palmason, Stephen T Sonis, Alessandro Villa
AIMS: To evaluate and compare the effectiveness of two concentrations of topical clonazepam solution in improving symptoms of burning mouth syndrome (BMS). METHODS: A retrospective chart review was conducted of patients diagnosed with BMS and managed with topical clonazepam solution between 2008 and 2015. A 0.5-mg/mL solution was prescribed until 2012, when this was changed to a 0.1 mg/mL solution. Patients were instructed to swish with 5 mL for 5 minutes and spit two to four times daily...
July 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28738080/effects-of-exogenous-glucagon-like-peptide-2-and-distal-bowel-resection-on-intestinal-and-systemic-adaptive-responses-in-rats
#12
Sarah W Lai, Elaine de Heuvel, Laurie E Wallace, Bolette Hartmann, Jens J Holst, Mary E Brindle, Prasanth K Chelikani, David L Sigalet
OBJECTIVE: To determine the effects of exogenous glucagon-like peptide-2 (GLP-2), with or without massive distal bowel resection, on adaptation of jejunal mucosa, enteric neurons, gut hormones and tissue reserves in rats. BACKGROUND: GLP-2 is a gut hormone known to be trophic for small bowel mucosa, and to mimic intestinal adaptation in short bowel syndrome (SBS). However, the effects of exogenous GLP-2 and SBS on enteric neurons are unclear. METHODS: Sprague Dawley rats were randomized to four treatments: Transected Bowel (TB) (n = 8), TB + GLP-2 (2...
2017: PloS One
https://www.readbyqxmd.com/read/28738067/the-prediction-of-late-onset-preeclampsia-results-from-a-longitudinal-proteomics-study
#13
Offer Erez, Roberto Romero, Eli Maymon, Piya Chaemsaithong, Bogdan Done, Percy Pacora, Bogdan Panaitescu, Tinnakorn Chaiworapongsa, Sonia S Hassan, Adi L Tarca
BACKGROUND: Late-onset preeclampsia is the most prevalent phenotype of this syndrome; nevertheless, only a few biomarkers for its early diagnosis have been reported. We sought to correct this deficiency using a high through-put proteomic platform. METHODS: A case-control longitudinal study was conducted, including 90 patients with normal pregnancies and 76 patients with late-onset preeclampsia (diagnosed at ≥34 weeks of gestation). Maternal plasma samples were collected throughout gestation (normal pregnancy: 2-6 samples per patient, median of 2; late-onset preeclampsia: 2-6, median of 5)...
2017: PloS One
https://www.readbyqxmd.com/read/28738049/atypical-hemolytic-uremic-syndrome-achieving-positive-patient-outcomes-with-early-diagnosis-and-appropriate-management%C3%A2
#14
Dmitriy Sverdlin, Brenda Peters-Watral
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS), a condition found in adult and pediatric populations, can be idiopathic or acquired as a result of major systemic changes. aHUS presents with a wide array of symptoms that can be attributed to other less dangerous conditions. Because of its complex nature and rare occurrence, it is typically diagnosed in later stages and with multiple organ involvement.
. OBJECTIVES: This article provides an overview of aHUS and available interventions...
August 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28738037/mosaicism-implications-for-genetic-counseling-and-medical-management
#15
Laura Waldman, Suzanne M Mahon
Mosaicism describes the presence of two or more populations of cells with different genotypes in one individual that have developed from a single fertilized egg. This article reviews the various clinical presentations of mosaicism associated with hereditary cancer syndromes and the challenges in providing patients and their families with appropriate genetic testing, as well as provides recommendations for cancer presentation and early detection. Management of mosaicism is based on personal and family history, along with genetic testing results...
August 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28738022/werner-syndrome-a-model-for-sarcopenia-due-to-accelerated-aging
#16
Masaya Yamaga, Minoru Takemoto, Mayumi Shoji, Kenichi Sakamoto, Masashi Yamamoto, Takahiro Ishikawa, Masaya Koshizaka, Yoshiro Maezawa, Kazuki Kobayashi, Koutaro Yokote
Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene. Although WS has been described as a characteristic appearance of very slender extremities with a stocky trunk, few studies have investigated the loss of muscle mass, fat mass distribution (body composition), and mobility according to age and sex. Therefore, the aim of this study was to precisely describe the body composition in WS. Nine Japanese patients with WS (four males and five females; mean age 48±8.8 years) were recruited...
July 19, 2017: Aging
https://www.readbyqxmd.com/read/28737953/metabolic-factors-and-oxidative-stress-in-osteoarthritis-a-case-control-study
#17
Kaspar Tootsi, Aare Märtson, Jaak Kals, Kaido Paapstel, Mihkel Zilmer
Previous studies suggest that metabolic disturbances might be involved in the development of osteoarthritis (OA). Associations have been found between the individual components of metabolic syndrome (MetS) and OA. MetS has been associated with increased oxidative stress (OxS). The study aimed to clarify the role of MetS components in OA and to evaluate the levels of OxS in OA patients and in age-matched controls. Fifty-five patients with end-stage OA (age 63 ± 7 years) prior to hip or knee joint replacement surgery and 55 age-, gender- and body mass index matched controls (61 ± 8 years) were enrolled in the study...
July 24, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28737878/-unusual-case-of-food-protein-induced-enterocolitis-syndrome
#18
M Teresa Sobrevia Elfau, Yolanda Aliaga Mazas, Gonzalo Herraiz Gastesi, Paula M Barberá Pérez, Ángela M Ascaso Matamala
Food protein-induced enterocolitis syndrome is a nonimmunoglobulin E mediated gastrointestinal food hypersensitivity that manifests as profuse, repetitive vomiting, pallor and hypotonia, often with diarrhea leading to severe dehydration and lethargy (sepsis-like symptoms) in the acute setting. An oral food challenge is sometimes performed to confirm the diagnosis and treatment consists of elimination of the food trigger(s) from the diet. We report a case of a 3-monthsold infant with several episodes of food protein-induced enterocolitis syndrome after taking infant formula milk with tolerance of another trademark...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737872/-loeys-dietz-syndrome-3-generations-4-familial-cases
#19
Carlos F Rosental, Silvina Neiling, Natalia Napoli, Claudia Villalba, Jorge Barretta, Horacio Capelli
Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with hypertelorism and bifid uvula. We describe four familial cases within three generations. The diagnosis, surgical management and followup will be addressed.
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737869/management-of-cirrhotic-ascites-in-children-review-and-recommendations-part-1-pathophysiology-diagnostic-evaluation-hospitalization-criteria-treatment-nutritional-management
#20
REVIEW
David F Bes, M Cristina Fernández, Ivone Malla, Horacio A Repetto, Daniel Buamsch, Susana López, Roxana Martinitto, Miriam Cuarterolo, Fernando Álvarez
Ascites is a major complication of cirrhosis. There are several evidence-based articles and guidelines for the management of adults, but few data have been published in relation to children. In the case of pediatric patients with cirrhotic ascites (PPCA), the following questions are raised: How are the clinical assessment and ancillary tests performed? When is ascites considered refractory? How is it treated? Should fresh plasma and platelets be infused before abdominal paracentesis to prevent bleeding? What are the hospitalization criteria? What are the indicated treatments? What complications can patients develop? When and how should hyponatremia be treated? What are the diagnostic criteria for spontaneous bacterial peritonitis? How is it treated? What is hepatorenal syndrome? How is it treated? When should albumin be infused? When should fluid intake be restricted? The recommendations made here are based on pathophysiology and suggest the preferred approach to its diagnostic and therapeutic aspects, and preventive care...
August 1, 2017: Archivos Argentinos de Pediatría
keyword
keyword
2039
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"