keyword
https://read.qxmd.com/read/38392599/folate-receptor-alpha-autoantibodies-in-the-pediatric-acute-onset-neuropsychiatric-syndrome-pans-and-pediatric-autoimmune-neuropsychiatric-disorders-associated-with-streptococcal-infections-pandas-population
#21
JOURNAL ARTICLE
Lindsey Wells, Nancy O'Hara, Richard E Frye, Neeshi Hullavard, Erica Smith
The folate receptor alpha autoantibodies (FRAAs) are associated with cerebral folate deficiency (CFD) and autism spectrum disorder (ASD). Both of these syndromes have overlapping characteristics with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) and Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). Thus, we propose that the FRAAs may contribute to the symptomatology of PANS/PANDAS. To test this hypothesis, 1 mL of serum from 47 patients (age range = 6-18 years old) clinically diagnosed with PANS/PANDAS was sent to Vascular Strategies (Plymouth Meeting, PA, USA) for analysis of FRAAs...
January 31, 2024: Journal of Personalized Medicine
https://read.qxmd.com/read/38379908/tgf%C3%AE-level-in-healthy-and-children-with-marfan-syndrome-effective-reduction-under-sartan-therapy
#22
JOURNAL ARTICLE
Veronika C Stark, Jakob Olfe, Daniel Diaz-Gil, Yskert von Kodolitsch, Rainer Kozlik-Feldmann, Johannes Reincke, Maria Stark, Peter Wiegand, Tanja Zeller, Thomas S Mir
INTRODUCTION: Transforming growth factor β (TGFβ) metabolism plays an important role in the pathogenesis of Marfan syndrome (MFS). Accordingly, drug therapy uses TGFβ receptor blockade to slow down the cardiovascular manifestations, above all aortic root dilatation. Angiotensin II type 1 receptor blockers (ARBs) have been shown to reduce TGFβ levels in adults. Data on childhood are lacking and are now being investigated in the TiGer For Kids study presented here...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38376731/transition-from-pediatric-to-adult-care-in-patients-with-turner-syndrome-in-italy-a-consensus-statement-by-the-tramiti-project
#23
JOURNAL ARTICLE
T Aversa, L De Sanctis, M F Faienza, A Gambineri, A Balducci, R D'Aprile, C Di Somma, C Giavoli, A Grossi, M C Meriggiola, E Profka, M Salerno, S Stagi, E Scarano, M C Zatelli, M Wasniewska
PURPOSE: Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) project was to improve the care provided to patients with TS by harnessing the knowledge and expertise of various Italian centers through a Delphi-like consensus process. METHODS: A panel of 15 physicians and 1 psychologist discussed 4 key domains: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders...
February 20, 2024: Journal of Endocrinological Investigation
https://read.qxmd.com/read/38374557/factors-associated-with-d-lactic-acidosis-in-pediatric-intestinal-failure-a-case-control-study
#24
JOURNAL ARTICLE
Emily Nes, Jamie Knell, Gregory Keefe, Katherine Culbreath, Sam M Han, Megan McGivney, Steven J Staffa, Biren P Modi, Alexandra N Carey, Tom Jaksic, Christopher P Duggan
BACKGROUND: D-lactic acidosis (DLA) is a serious complication of short bowel syndrome (SBS) in children with intestinal failure (IF). Malabsorbed carbohydrates are metabolized by bacteria in the intestine to D-lactate which can lead to metabolic acidosis and neurologic symptoms. METHODS: A retrospective chart review was performed in children ≤18 years old with SBS who had one of the following criteria: unexplained metabolic acidosis, neurologic signs or symptoms, history of antibiotic therapy for small bowel bacterial overgrowth, or high clinical suspicion of DLA...
February 2024: Journal of Pediatric Gastroenterology and Nutrition
https://read.qxmd.com/read/38369802/metabolic-syndrome-and-pulmonary-dysfunction-in-asthmatic-children-during-the-covid-19-pandemic
#25
JOURNAL ARTICLE
Jue Seong Lee, Sang Hyun Park, Yoon Lee, Seunghyun Kim, Wonsuck Yoon, Young Yoo
No abstract text is available yet for this article.
February 19, 2024: Clinical and experimental pediatrics
https://read.qxmd.com/read/38365697/clinical-genetic-profile-and-therapy-evaluation-of-11-chinese-pediatric-patients-with-fanconi-bickel-syndrome
#26
JOURNAL ARTICLE
Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao, Wenjuan Qiu
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. METHODS: Clinical, biochemical, genetic, treatment, and follow-up data for 11 pediatric patients with FBS were retrospectively analysed. RESULTS: Hepatomegaly (10/11), short stature (10/11) and hypophosphataemic rickets (7/11) were the most common initial symptoms...
February 16, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38357315/the-role-of-cranial-magnetic-resonance-imaging-findings-in-pediatric-epilepsy-a-single-center-experience
#27
JOURNAL ARTICLE
Ozge Yapici, Tugce Aksu Uzunhan
OBJECTIVE: The aim of this study was to investigate cranial magnetic resonance imaging (MRI) findings in different age groups and genders in pediatric epilepsy, to determine the percentages of etiologic factors, and to evaluate the association between MRI positivity and treatment resistance. METHODS: Cranial MRIs of 359 patients with epilepsy aged 1 month to 18 years were retrospectively evaluated. Etiologic factors as an underlying cause of epilepsy were classified as previous parenchymal damage, hippocampal sclerosis, malformations of cortical development, tumor, neurocutaneous syndrome, myelination disorder, vascular anomaly, metabolic/genetic/neurodegenerative diseases, encephalitis, and an uncategorized "other" group...
2024: Northern Clinics of Istanbul
https://read.qxmd.com/read/38353291/two-turkish-patients-with-primary-coenzyme-q10-deficiency-7-case-report-and-literature-review
#28
Gülreyhan Sonuç Kartal, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu
OBJECTIVES: Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the COQ4 gene. Common clinical findings include hypotonia, seizures, respiratory distress, and cardiomyopathy. In this report, we present two patients diagnosed with Primary Coenzyme Q10 Deficiency-7 along with a review of previously published cases, with the aim being to provide a better understanding of the clinical and laboratory manifestations of the disease. CASE PRESENTATION: A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness...
February 2, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38347169/impact-of-cesarean-section-on-metabolic-syndrome-components-in-offspring-rats
#29
JOURNAL ARTICLE
Mingxuan Zhang, Mengjiao Liu, Long Zhang, Zhangjian Chen, Yu-Bo Zhou, Hong-Tian Li, Jian-Meng Liu
INTRODUCTION: Epidemiological evidence suggests an association between CS and offspring metabolic syndrome (MetS), but whether a causal relationship exists is unknown. METHODS: In this study, timed-mated Wistar rat dams were randomly assigned to cesarean section (CS), vaginal delivery (VD), and surrogate groups. The offspring from both CS and VD groups were reared by surrogate dams until weaning, and weaned male offspring from both groups were randomly assigned to receive normal diet (ND) or high-fat/high-fructose diet (HFF) ad libitum for 39 weeks...
February 12, 2024: Pediatric Research
https://read.qxmd.com/read/38345890/late-diagnosis-of-the-x-linked-mct8-deficiency-allan-herndon-dudley-syndrome-in-a-teenage-girl-with-primary-ovarian-insufficiency
#30
Swetha Sriram, Nabiha Shahid, Diana Mysliwiec D, Uta Lichter-Konecki, Svetlana A Yatsenko, Luigi R Garibaldi
OBJECTIVES: To report an unusual case of MCT8 deficiency (Allan-Herndon-Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities. CASE PRESENTATION: A girl with profound developmental delay, epilepsy, primary amenorrhea, elevated T3, low T4 and free T4 levels was diagnosed with MCT8-deficiency at age 17 years, during evaluation for primary ovarian insufficiency (POI)...
February 13, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38344501/landau-kleffner-syndrome-attention-deficit-hyperactivity-disorder-adhd-and-viral-autoimmune-encephalitis-challenges-in-the-diagnosis-and-management-of-a-six-year-old-boy
#31
Lujain Althagafi, Rahaf Al Fuhayd, Fatimah K Almeathem, Razan A Almeshal, Lma J Al-Amri, Wessal A Mustafa
In this case, we discuss the difficulties and challenges faced when diagnosing and treating a six-year-old boy presenting with abnormal behaviors and difficulty in concentration and inattentiveness, followed by regression of expressive language. These symptoms were then followed by hyperactivity, bouts of anger, and difficulty sleeping. The patient was seen by a psychiatrist, and he was diagnosed with attention-deficit/hyperactivity disorder (ADHD) initially and treated with little to no improvement...
January 2024: Curēus
https://read.qxmd.com/read/38330918/nonalcoholic-fatty-liver-disease-and-continuous-metabolic-syndrome-in-adolescents-with-overweight-obesity
#32
JOURNAL ARTICLE
Sofia Ferreira, Joana Mendes, Daniela Couto, Dário Ferreira, Carla Rêgo
INTRODUCTION: Nonalcoholic fatty liver disease is the leading cause of pediatric chronic liver disease. Although nonalcoholic fatty liver disease is closely associated with obesity, its relationship with metabolic syndrome in children is not fully understood. The main aim of this study was to evaluate the association between nonalcoholic fatty liver disease and a combination of cardiometabolic risk factors in adolescents with overweight/obesity, using a pediatric metabolic syndrome score (PsiMS) to predict metabolic syndrome...
March 1, 2024: Acta Médica Portuguesa
https://read.qxmd.com/read/38321079/current-and-future-state-of-pharmacological-management-of-pediatric-obesity
#33
REVIEW
Claudia K Fox, Aaron S Kelly, Jessica L Reilly, Nicole Theis-Mahon, Sarah J Raatz
Pediatric obesity is a highly prevalent chronic disease, which has traditionally been treated with lifestyle therapy alone. Yet for many youth, lifestyle intervention as a monotherapy is often insufficient for achieving clinically significant and durable BMI reduction. While metabolic/bariatric surgery achieves robust and long-lasting outcomes, it is neither widely accessible nor wanted by most pediatric patients and families. In the past 3 years, this treatment gap between lifestyle therapy and metabolic/bariatric surgery has been filled with a number of landmark clinical trials examining the safety and efficacy of anti-obesity medication (AOM) for use in children and adolescents...
February 6, 2024: International Journal of Obesity
https://read.qxmd.com/read/38318985/performance-of-mid-upper-arm-circumference-to-identify-adolescents-with-obesity-and-metabolic-syndrome-nhanes-2011-2018-analysis
#34
JOURNAL ARTICLE
Beshada Rago Jima, Binyam Girma Sisay, Ilili Feyesa, Hamid Yimam Hassen
BACKGROUND: Mid-upper arm circumference (MUAC) was recommended for screening of adolescents with obesity, although its diagnostic performance with respect to high-precision assessment of body composition remains unknown. OBJECTIVE: To evaluate the diagnostic performance of MUAC in identifying obesity and metabolic syndrome in U.S. adolescents. METHODS: A cross-sectional study was conducted using National Health and Nutrition Examination Survey (NHANES) data (2011-2018) of adolescents aged 12-19...
February 6, 2024: Pediatric Obesity
https://read.qxmd.com/read/38296838/neonatal-hemophagocytic-lymphohistiocytosis-a-meta-analysis-of-205-cases
#35
JOURNAL ARTICLE
Lincoln A Kranz, Wyatt S Hahn, Whitney S Thompson, Roland Hentz, Nathan L Kobrinsky, Paul Galardy, Jacob R Greenmyer
BACKGROUND: Neonatal hemophagocytic lymphohistiocytosis (nHLH), defined as HLH that presents in the first month of life, is clinically devastating. There have been few large descriptive studies of nHLH. OBJECTIVES: The objective of this study was to perform a meta-analysis of published cases of nHLH. METHODS: A comprehensive literature database search was performed. Cases of HLH were eligible for inclusion if clinical analysis was performed at age ≤30 days...
April 2024: Pediatric Blood & Cancer
https://read.qxmd.com/read/38291763/resistance-to-thyroid-hormone-and-non-functioning-pituitary-microadenoma-in-a-13-year-old-boy-with-a-mutation-in-thrb
#36
JOURNAL ARTICLE
Jiyeon Kim, Eu Seon Noh, Min-Sun Kim, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho
Resistance to thyroid hormone (RTH) is a rare syndrome characterized by elevated serum free iodothyronines levels and non-suppressed thyroid stimulating hormones (TSH). The most common cause of RTH is heterozygous pathogenic mutations in thyroid hormone receptor β gene (THRB). Because of the similarities in biochemical profiles, differential diagnosis between RTHβ and TSH-secreting pituitary adenoma (TSHoma) is important, and accurate RTHβ diagnosis is essential to prevent inappropriate treatment...
January 28, 2024: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/38291759/idiopathic-ketotic-hypoglycemia-in-children-an-update
#37
JOURNAL ARTICLE
Kotb Abbass Metwalley, Hekma Saad Farghaly
Idiopathic ketotic hypoglycemia (IKH ) is defined as bouts of hypoglycemia with increased blood or urine ketones that occur in certain children after prolonged fasting or during illness .IKH is divided into physiological IKH which most frequently observed in normal children with inter current acute illness and pathological IKH which are seen in children who lack counter-regulatory hormones or in children with some metabolic disease or Silver-Russell syndrome .The typical patient is a young child between the ages of 10 months and 6 years...
January 29, 2024: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/38291758/orbital-apex-syndrome-in-pediatric-thyroid-eye-disease-a-case-report-and-literature-review
#38
JOURNAL ARTICLE
Hyun Ji Jang, Ha Young Jo
Thyroid eye disease is an autoimmune disorder with clinical manifestations including lid retraction, proptosis, decreased visual acuity, and strabismus, and an incidence rate of 0.79 to 6.5 cases per 100,000 children. While reports are rare, the symptoms of thyroid eye disease in children have been found to be similar to those in adults, although typically milder. A 17-year-old girl presented with diplopia and hypoesthesia of the left forehead. Other clinical symptoms included mildly reduced visual acuity, restricted ocular movement, ptosis, and lid edema of the left eye...
January 29, 2024: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/38265882/pediatric-cholestatic-diseases-common-and-unique-pathogenic-mechanisms
#39
REVIEW
Harry Sutton, Saul J Karpen, Binita M Kamath
Cholestasis is the predominate feature of many pediatric hepatobiliary diseases. The physiologic flow of bile requires multiple complex processes working in concert. Bile acid (BA) synthesis and excretion, the formation and flow of bile, and the enterohepatic reuptake of BAs all function to maintain the circulation of BAs, a key molecule in lipid digestion, metabolic and cellular signaling, and, as discussed in the review, a crucial mediator in the pathogenesis of cholestasis. Disruption of one or several of these steps can result in the accumulation of toxic BAs in bile ducts and hepatocytes leading to inflammation, fibrosis, and, over time, biliary and hepatic cirrhosis...
January 24, 2024: Annual Review of Pathology
https://read.qxmd.com/read/38264809/-expert-consensus-on-diagnosis-and-management-of-mccune-albright-syndrome-in-children-2023
#40
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
February 2, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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