Search
Search Results
-
Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?
BackgroundAtypical hemolytic uremic syndrome (aHUS) is a rare, mostly complement-mediated thrombotic microangiopathy. The majority of patients are...
-
Diagnosing and tracing the pathogens of infantile infectious diarrhea by amplicon sequencing
BackgroundMetagenomic methods have been widely applied to study the relationship between gut microbiota and human health. To test whether metagenomic...
-
Microbiome of the first stool after birth and infantile colic
BackgroundRecent studies have shown a diverse microbiome in the first stool after birth. The clinical significance of the microbiome of the first...
-
Dynamic change, influencing factors, and clinical impact of cellular components in human breast milk
BackgroundNumerous cellular components have been well demonstrated in human breast milk. However, little is known about their dynamic change,...
-
-
Cost-effectiveness of miglustat versus symptomatic therapy of Niemann–Pick disease type C
BackgroundNiemann–Pick disease type C (NP-C) is a progressive neurodegenerative disorder with early infantile (< 2 years), late infantile...
-
The C-terminal proline-rich repeats of Enteropathogenic E. coli effector EspF are sufficient for the depletion of tight junction membrane proteins and interactions with early and recycling endosomes
BackgroundEnteropathogenic E. coli (EPEC) causes acute infantile diarrhea accounting for significant morbidity and mortality in develo**...
-
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene
BackgroundCerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 ...
-
The efficacy of the prenatal administration of Lactobacillus reuteri LR92 DSM 26866 on the prevention of infantile colic: a randomized control trial
Infantile colic is a functional gastrointestinal disease of the infancy that its cause has not yet been properly identified. It leads to severe...
-
Very-early-onset inflammatory bowel disease versus late-onset inflammatory bowel disease in relation to clinical phenotype: A cross-sectional study
BackgroundInflammatory bowel disease (IBD) is a chronic condition and children are affected by the disease’s burden and therapeutic interventions for...
-
A rare immunological disease, caspase 8 deficiency: case report and literature review
BackgroundCaspase-8 is a molecule in the FAS pathway that initiates apoptosis. One of the rarest autoimmune lymphoproliferative syndromes is...
-
Impact of cisplatin administration on cerebellar cortical structure and locomotor activity of infantile and juvenile albino rats: the role of oxidative stress
The central neurotoxicity of cisplatin (CisPt) has always raised questions especially during development, but few studies are available. Hence, this...
-
Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report
BackgroundMicrocephaly, epilepsy, and diabetes syndrome (MEDS) is a rare syndromic form of monogenic diabetes caused by bi-allelic loss of function...
-
Molecular prevalence of intestinal parasites infections in children with diarrhea in Franceville, Southeast of Gabon
BackgroundPediatric diarrhea caused by a range of pathogens, including intestinal parasites, is one of main causes of death among children under 5...
-
A cross-sectional study on stool- and gastrointestinal-related outcomes of Mexican infants consuming different formulae
BackgroundImmaturities present at birth, such as in the gut microbiome and digestive, nervous, and immune system, resolve with time. Nevertheless,...
-
Multicenter registry of pediatric inflammatory bowel disease from a develo** country
BackgroundDespite the rising incidence of pediatric inflammatory bowel disease (PIBD) globally, multicenter collaborative studies of PIBD children...
-
A novel TMTC2-NTRK3 fusion in undifferentiated high-grade pleomorphic sarcoma
Undifferentiated high-grade pleomorphic sarcoma (UHPS) is a rare soft tissue sarcoma (STS) originated from mesenchyme. UHPS is mostly advanced,...
-
A Post-Marketing Surveillance Study of Nusinersen for Spinal Muscular Atrophy in Routine Medical Practice in China: Interim Results
IntroductionSpinal muscular atrophy (SMA) is a rare, autosomal recessive, neuromuscular disease that leads to progressive muscular weakness and...
-
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
BackgroundInfantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 ( LARS1 , OMIM *151,350) deficiency, is a...
