Infant Formulas With Postbiotics: An Updated Systematic Review.

Objectives: Infant formulas (IF) with postbiotics, defined as inanimate microorganisms and/or their components that confer a health benefit on the host, are available. We systematically updated evidence on the safety and health effects of administering iF with postbiotics (with or without other modifications) compared with standard IF.

Methods: The Cochrane Library, MEDLINE, and EMBASE databases were searched to December 2021.

Post-zygotic diploidization of triploidy in human is possible? - a case of triploid partial molar pregnancy resulting in a premature live-born diploid female infant.

Objective: During the treatment of our patient we found that reports covering possible complications and their treatment are very scarce. Due to advancement in ultrasound diagnosis most of molar pregnancies are terminated in first trimester of pregnancy. There is the gap in knowledge concerning pregnancy complications in case of partial mole discovered in advanced pregnancy.

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours. BWS results mainly from epigenetic changes at chromosome 11p15.5; however, heterozygous pathogenic variants on the maternal CDKN1C allele are observed in 5-8% of sporadic BWS cases.

Effects of prenatal and/or postnatal supplementation with iron, PUFA or folic acid on neurodevelopment: update.

Neurodevelopment has been linked, among other factors, to maternal and early infant diets. The objective of this review, which is part of the NUTRIMENTHE research project 'The effect of diet on the mental performance of children' (www.nutrimenthe.

Association between early life (prenatal and postnatal) antibiotic administration and coeliac disease: a systematic review.

Objective: Whether prenatal or postnatal exposure to antibiotics is associated with an increased risk of coeliac disease (CD) is unclear. We systematically reviewed studies on the association between early life antibiotic exposure and the risk of CD or CD autoimmunity.

Design: Systematic review of observational studies.

Systematic review with meta-analysis: Lactobacillus rhamnosus GG for treating acute gastroenteritis in children - a 2019 update.

Background: Recently, evidence from a large randomised controlled trial (RCT) negated efficacy of Lactobacillus rhamnosus GG for treating acute gastroenteritis in children.

Aim: To review RCTs in which L rhamnosus GG was used to treat acute gastroenteritis in children.

Methods: The Cochrane Library, MEDLINE, and EMBASE databases were searched from May 2013 (end of last search) to January 2019.

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders.

Background: Mapping the breakpoints in de novo balanced chromosomal translocations (BCT) in symptomatic individuals provides a unique opportunity to identify in an unbiased way the likely causative genetic defect and thus find novel human disease candidate genes. Our aim was to fine-map breakpoints of de novo BCTs in a case series of nine patients.

Methods: Shallow whole-genome mate pair sequencing (SGMPS) together with long-range PCR and Sanger sequencing.

Infant formulae supplemented with prebiotics: Are they better than unsupplemented formulae? An updated systematic review.

In 2011, the Committee on Nutrition of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition systematically reviewed published evidence related to the safety and health effects of the administration of formulae supplemented with pro- and/or prebiotics compared with unsupplemented formulae. We updated evidence on the effects of the administration of prebiotic-supplemented infant formulae (IF) compared with unsupplemented IF. Five databases were searched up to March 2017 for randomised controlled trials.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype.

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and Silver-Russell syndrome (SRS) associated with growth retardation. In a small group of patients with BWS and SRS, copy number variations (CNVs) involving the 11p15.

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Background: Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incidence of congenital heart disease, hypertrophic cardiomyopathy, and increased risk of both benign and malignant tumors.

Fermented infant formulas without live bacteria: a systematic review.

Unlabelled: Fermented formulas, i.e., those fermented with lactic acid-producing bacteria during the production process and not containing significant amounts of viable bacteria in the final product, are widely available in many countries.

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature.

Introduction: The adrenocortical rest tumours are the very rare entity in the pediatric population. They are usually found along the gonadal descent paths (celiac axis, the broad ligamen, the adnexa of the testes or the spermatic cord). They have been also described to occur at rare ectopic sites like intracranial locations, placenta, kidney, pancreas and liver.

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.

Background: Hearing loss is one of the most common symptoms of mitochondrial disorders. However, audiological phenotypes associated with different molecular defects in mtDNA are not yet well characterized.

Material And Methods: A large cohort of 1499 nonconsanguineous patients aged 5-40 years with hearing loss of unknown etiology was screened for mutations in mtDNA.

No effect of proton pump inhibitors on crying and irritability in infants: systematic review of randomized controlled trials.

Proton pump inhibitors are increasingly being used to treat infants with crying and/or irritability based on the assumption that these symptoms are attributable to gastroesophageal reflux. However, the data from a systematic review of randomized controlled trials do not support the use of proton pump inhibitors to decrease infant crying and irritability.

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of developmental delay and congenital anomalies, including characteristic facial, cardiac, and ectodermal abnormalities. It is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. In, however, approximately 10%-30% of individuals with a clinical diagnosis of CFCS, no mutation of the causative gene is found.

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.

Background: The prevalence of isolated hearing loss (HL) associated with the m.3243A>G mutation is unknown. The aim of this study was to assess the frequency and heteroplasmy level of the m.

Effects of prenatal and/or postnatal (maternal and/or child) folic acid supplementation on the mental performance of children.

It has been suggested that a deficiency in folic acid during early, critical central nervous system development may result in persistent cognitive and behavioral effects. The purpose of this systematic review was to evaluate evidence regarding whether folic acid supplementation during pregnancy and early life influences mental performance outcomes in children. The following electronic databases were searched through December 2009 for studies relevant to mental performance and folic acid: MEDLINE, EMBASE and The Cochrane Library; additional references were obtained from reviewed articles.

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment.

Hearing impairment (HI) is the most common sensory handicap. Congenital HI often has a genetic basis, whereas the etiology of nonsyndromic postlingual HI (npHI) usually remains unidentified. Our purpose was to test whether the MTHFR C677T (rs1801133) polymorphism affecting folate metabolism is associated with the occurrence or severity of npHI.

The risk factors of ketoacidosis in children with newly diagnosed type 1 diabetes mellitus.

Background And Aims: Diabetic ketoacidosis (DKA) is still a severe complication associated with significant morbidity and mortality. The aim of this study was to determine the predictors of DKA in children with newly diagnosed type 1 diabetes mellitus (T1DM).

Material And Methods: The study group consisted of new-onset type 1 diabetic patients admitted to our hospital between January 2006 and March 2008.

Acute hypoxic hepatopathy: diabetic ketoacidosis complication in an infant newly diagnosed with type 1 diabetes mellitus.

Aim Of The Study: Case presentation of hepatic dysfunction after severe ketoacidosis in an infant newly diagnosed with type 1 diabetes mellitus.

Material And Methods: A 10-month old Caucasian boy has been admitted to the hospital with pH 6.85, body temperature of 39.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound.