keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric Syndromes

keyword
https://www.readbyqxmd.com/read/28425133/fecal-microbiota-signatures-of-adult-patients-with-different-types-of-short-bowel-syndrome
#1
Yuhua Huang, Feilong Guo, Yousheng Li, Jian Wang, Jieshou Li
BACKGROUND AND AIM: Short bowel syndrome (SBS) is a common cause of intestinal failure and can be divided into three types depending on intestinal anatomy. Gut dysbiosis has been observed in pediatric SBS patients and is associated with impaired outcome. Little is known about the changes in gut microbiota of adult SBS patients. Therefore, we aim to characterize the fecal microbiota of adult patients with different types of SBS. METHODS: Fifteen fecal samples from healthy controls and adult patients with type II or type III SBS were collected (five in each group)...
April 19, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#2
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#3
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422939/predictive-factors-for-achieving-independent-walking-in-children-with-guillain-barre-syndrome
#4
Mohammad Barzegar, Vahideh Toopchizadeh, Mohammad Hk Maher, Paria Sadeghi, Fatemeh Jahanjoo, Alireza Pishgahi
BACKGROUND: To determine the predictors of achieving independent walking at 2 and 6 months after onset of weakness in children with Guillain-Barre Syndrome (GBS). METHODS: Children with GBS admitted to Tabriz Children's Hospital were studied prospectively. All patients had frequent clinical evaluations until achieving independent walking. Unaided walking at 2 and 6 months, and factors influencing these outcomes were determined using both univariate and multiple analysis...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422636/impact-of-pans-and-pandas-exacerbations-on-occupational-performance-a-mixed-methods-study
#5
Janice Trigilio Tona, Sutanuka Bhattacharjya, Denise Calaprice
OBJECTIVE: Pediatric acute-onset neuropsychiatric syndrome (PANS) includes pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections and involves sudden-onset neuropsychiatric symptoms, including obsessions, compulsions, sensory difficulties, and dysgraphia after infection or other triggers. Our objective was to identify problems with areas of occupation, body functions, and performance skills during exacerbations. METHOD: In this online retrospective study, based on the Occupational Therapy Practice Framework: Domain and Process (2nd ed...
May 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/28421730/facies-the-value-of-an-old-diagnostic-tip-in-pediatric-dermatology
#6
Carmelo Schepis, Corrado Romano
The authors examine what's meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.
April 19, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28419083/pneumococcal-vaccination-and-efficacy-in-patients-with-heterotaxy-syndrome
#7
Pei-Lan Shao, Mei-Hwan Wu, Jou-Kou Wang, Hui-Wen Hsu, Li-Min Huang, Shuenn-Nan Chiu
BACKGROUND: Pneumococcal vaccines, including pneumococcal polysaccharide vaccine (PPV) and pneumococcal conjugated vaccine (PCV), are important in preventing invasive pneumococcal disease. We analyzed the pneumococcal vaccination rate, efficacy and durability in patients with heterotaxy. METHODS: All patients with heterotaxy and CCHD who were followed at our institution between 2010 and 2015 were included. Pneumococcal vaccine status and geometric mean concentration (GMC) of serotypes 6B, 14, 19F, and 23F were analyzed...
April 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28417683/tracheostomy-for-severe-pediatric-obstructive-sleep-apnea-indications-and-outcomes
#8
Christopher J Rizzi, Julian D Amin, Amal Isaiah, Tulio A Valdez, Anita Jeyakumar, Suzanne E Smart, Kevin D Pereira
Objectives (1) To describe characteristics of pediatric patients undergoing tracheostomy for obstructive sleep apnea (OSA). (2) To highlight perioperative events and outcomes of the procedure. Study Design Case series with chart review. Setting Four tertiary care academic children's hospitals. Subjects and Methods Twenty-nine children aged <18 years from January 1, 2010, to December 31, 2015, who underwent tracheostomy for severe OSA, defined as an apnea-hypopnea index (AHI) >10, were included in the study...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28416430/-extracorporeal-membrane-oxygenation-in-critically-ill-neonates-and-children
#9
J Rambaud, J Guilbert, I Guellec, S Jean, A Durandy, M Demoulin, A Amblard, R Carbajal, P-L Leger
Extracorporeal membrane oxygenation is used as a last resort during neonatal and pediatric resuscitation in case of refractory circulatory or respiratory failure under maximum conventional therapies. Different types of ECMO can be used depending on the initial failure. The main indications for ECMO are refractory respiratory failure (acute respiratory distress syndrome, status asthmaticus, severe pneumonia, meconium aspiration syndrome, pulmonary hypertension) and refractory circulatory failure (cardiogenic shock, septic shock, refractory cardiac arrest)...
April 14, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#10
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28414396/postural-tachycardia-syndrome-diagnosis-and-management-in-adolescents-and-young-adults
#11
Geoffrey L Heyer
Postural tachycardia syndrome (POTS) represents a common form of orthostatic intolerance that disproportionately affects young women from puberty through adulthood. Patients with POTS have day-to-day orthostatic symptoms with the hallmark feature of an excessive, sustained, and symptomatic rise in heart rate during orthostatic testing. Although considerable overlap exists, three subtypes of POTS have been described: neuropathic, hyperadrenergic, and hypovolemic forms. The wide spectrum of symptoms and comorbidities can make treatment particularly challenging...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28414188/a-case-of-splenomegaly-in-cbl-syndrome
#12
Rachel R Coe, Margaret L McKinnon, Maja Tarailo-Graovac, Colin J Ross, Wyeth W Wasserman, Jan M Friedman, Paul C Rogers, Clara D M van Karnebeek
INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28412998/new-hpsc-based-human-models-to-study-pediatric-acute-megakaryoblastic-leukemia-harboring-the-fusion-oncogene-rbm15-mkl1
#13
Verónica Ayllón, Marina Vogel-González, Federico González-Pozas, Joan Domingo-Reinés, Rosa Montes, Lucía Morales-Cacho, Verónica Ramos-Mejía
Pediatric Acute Megakaryoblastic Leukemia not associated to Down Syndrome (non-DS AMKL) is a rare disease with a dismal prognosis. Around 15% of patients carry the chromosomal translocation t(1;22) that originates the fusion oncogene RBM15-MKL1, which is linked to an earlier disease onset (median of 6months of age) and arises in utero. Here we report the generation of two hPSC cell lines constitutively expressing the oncogene RBM15-MKL1, resulting in an increased expression of known RBM15-MKL1 gene targets...
March 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28412707/application-of-the-2016-eular-acr-printo-classification-criteria-for-macrophage-activation-syndrome-in-patients-with-adult-onset-still-disease
#14
Sung Soo Ahn, Byung-Woo Yoo, Seung Min Jung, Sang-Won Lee, Yong-Beom Park, Jason Jungsik Song
OBJECTIVE: To evaluate the clinical significance of the 2016 European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR)/Pediatric Rheumatology International Trials Organization (PRINTO) classification criteria for macrophage activation syndrome (MAS) in patients with adult-onset Still disease (AOSD). METHODS: We performed a retrospective analysis of patients with AOSD with fever who were admitted to Severance Hospital between 2005 and 2016...
April 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#15
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28410274/three-hypothetical-inflammation-pathobiology-phenotypes-and-pediatric-sepsis-induced-multiple-organ-failure-outcome
#16
Joseph A Carcillo, E Scott Halstead, Mark W Hall, Trung C Nguyen, Ron Reeder, Rajesh Aneja, Bita Shakoory, Dennis Simon
OBJECTIVES: We hypothesize that three inflammation pathobiology phenotypes are associated with increased inflammation, proclivity to develop features of macrophage activation syndrome, and multiple organ failure-related death in pediatric severe sepsis. DESIGN: Prospective cohort study comparing children with severe sepsis and any of three phenotypes: 1) immunoparalysis-associated multiple organ failure (whole blood ex vivo tumor necrosis factor response to endotoxin < 200 pg/mL), 2) thrombocytopenia-associated multiple organ failure (new onset thrombocytopenia with acute kidney injury and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 activity < 57%), and/or 3) sequential multiple organ failure with hepatobiliary dysfunction (respiratory distress followed by liver dysfunction with soluble Fas ligand > 200 pg/mL), to those without any of these phenotypes...
April 13, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28409853/a-phase-1-study-of-the-cxcr4-antagonist-plerixafor-in-combination-with-high-dose-cytarabine-and-etoposide-in-children-with-relapsed-or-refractory-acute-leukemias-or-myelodysplastic-syndrome-a-pediatric-oncology-experimental-therapeutics-investigators-consortium
#17
Todd M Cooper, Edward Allan Racela Sison, Sharyn D Baker, Lie Li, Amina Ahmed, Tanya Trippett, Lia Gore, Margaret E Macy, Aru Narendran, Keith August, Michael J Absalon, Jessica Boklan, Jessica Pollard, Daniel Magoon, Patrick A Brown
BACKGROUND: Plerixafor, a reversible CXCR4 antagonist, inhibits interactions between leukemic blasts and the bone marrow stromal microenvironment and may enhance chemosensitivity. A phase 1 trial of plerixafor in combination with intensive chemotherapy in children and young adults with relapsed or refractory acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS) was performed to determine a tolerable and biologically active dose. PROCEDURE: Plerixafor was administered daily for 5 days at four dose levels (6, 9, 12, and 15 mg/m(2) /dose) followed 4 hr later by high-dose cytarabine (every 12 hr) and etoposide (daily)...
April 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28407831/-a-meta-analysis-of-the-efficacy-of-high-frequency-oscillatory-ventilation-versus-conventional-mechanical-ventilation-for-treating-pediatric-acute-respiratory-distress-syndrome
#18
Jun-Ying Qiao, Yuan-Zhe Li, He-Yi Wang, Shuai-Dan Zhang
OBJECTIVE: To systematically assess the clinical efficacy of high-frequency oscillatory ventilation (HFOV) and conventional mechanical ventilation (CMV) for treating pediatric acute respiratory distress syndrome (ARDS). METHODS: Data from randomized controlled trials comparing HFOV and CMV in the treatment of pediatric ARDS published before July 2016 were collected from the Cochrane Library, PubMed, Medline, CNKI, and Wanfang Data. Literature screening, data extraction, and quality assessment were performed by two independent reviewers according to the inclusion and exclusion criteria...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#19
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. () Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. () Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28405841/focal-segmental-glomerulosclerosis-and-medullary-nephrocalcinosis-in-children-with-adck4-mutations
#20
Eujin Park, Hee Gyung Kang, Young Hun Choi, Kyoung Bun Lee, Kyung Chul Moon, Hyeon Joo Jeong, Michio Nagata, Hae Il Cheong
BACKGROUND: Mutations in the AarF domain containing kinase 4 gene (ADCK4), one of the novel genes causing steroid-resistant nephrotic syndrome (SRNS), usually manifest as isolated adolescent-onset focal segmental glomerulosclerosis (FSGS). ADCK4 interacts with components of the coenzyme Q10 (CoQ10) biosynthesis pathway. METHODS: The incidence and phenotypes of patients with ADCK4 mutations were investigated in a cohort of Korean pediatric patients with SRNS. RESULTS: Among the 53 patients enrolled in the study the incidence of ADCK4-associated FSGS was 7...
April 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
keyword
keyword
33798
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"