RESUMO
Autism spectrum disorder (ASD), a neurodevelopmental disorder with a prevalence of 1 in 68 children, commonly presents with comorbid conditions which include sleep disorders. Sleep disorders reported in ASD include, among others, increased bedtime resistance, insomnia, parasomnia, sleep disordered breathing, morning rise problems, and daytime sleepiness. Polysomnography studies show that children with ASD have altered sleep architecture including shorter total sleep time and longer sleep latency than typically developing peers. Sleep-related problems have been shown to affect overall autism scores, social skills decits, stereotypic behavior, and cognitive performance. Additionally, problematic sleep in children with ASD has been associated with higher levels of parental stress. Underlying causes specically related to sleep disorders are not fully known. Gastrointestinal (GI) disorders are commonly associated with sleep problems in these patients. Children with ASD and GI symptoms have been found to have a higher prevalence of sleep disturbances compared with typically developing peers who do not have GI symptoms. Treatment approaches to children with sleep disorders are varied and range from lifestyle modications and behavioral interventions to drug therapies and surgical interventions. Physicians should take into account GI disorders as possible underlying causes of sleep-related problems in children with ASD. Therapeutic interventions should begin with less invasive methods before progressing to more invasive options such as pharmacotherapy and should be based on medical indications in order to provide effective care while minimizing potential adverse health effects. Evidence-based studies concerning GI and sleep disorders in children with ASD are limited and further studies are warranted.
Assuntos
Transtorno Autístico/epidemiologia , Transtorno Autístico/terapia , Gastroenteropatias/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/terapia , Criança , Comorbidade , Humanos , Prevalência , Comportamento de Redução do RiscoRESUMO
Small for gestational age (SGA) births are a significant clinical and public health issue. The objective of this review was to summarize maternal biological and socio-demographic factors and preventive strategies used to reduce the risk of SGA births. A literature search encompassing data from the last 15 years was conducted using electronic databases MEDLINE/PubMed, Google Scholar and Scopus to review risk factors and preventive strategies for SGA. Current evidence shows that primiparity, previous stillbirths, maternal age ≤24 and ≥35 years, single motherhood, low socio-economic status, smoking and cannabis use during pregnancy confer a significant risk of SGA births. Studies on alcohol consumption during pregnancy and SGA birth weight are inconclusive. Beneficial and preventive factors include the "Mediterranean diet" and dietary intake of vegetables. Periconceptional folic acid supplementation, maternal 25-hydroxyvitamin D, zinc and iron levels are partly associated with birth weight. No significant associations between COVID-19 vaccinations and birthweight are reported. A midwifery-led model based on early and extensive prenatal care reduces the risk of SGA births in women with low socio-economic status. Major preventive measures relate to the awareness of modifiable and non-modifiable risk factors of SGA, leading to changes in parents' lifestyles. These data support that education, monitoring during pregnancy, and implementing preventive strategies are as important as biological determinants in risk reduction of SGA births.
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The increase in allergy prevalence observed in recent decades may be a consequence of early intestinal dysbiosis. The intestinal microbiota is formed in the first 1000 days of life, when it is particularly sensitive to various factors, such as the composition of the mother's microbiota, type of delivery, infant's diet, number of siblings, contact with animals, and antibiotic therapy. Breastfeeding and vaginal birth favorably affect the formation of an infant's intestinal microbiota and protect against allergy development. The intestinal microbiota of these infants is characterized by an early dominance of Bifidobacterium, which may have a significant impact on the development of immune tolerance. Bifidobacterium breve is a species commonly isolated from the intestines of healthy breastfed infants and from human milk. This review outlines the most important environmental factors affecting microbiota formation and the importance of Bifidobacterium species (with a particular emphasis on Bifidobacterium breve) in microbiota modulation towards anti-allergic processes. In addition, we present the concept, which assumes that infant formulas containing specific probiotic Bifidobacterium breve strains and prebiotic oligosaccharides may be useful in allergy management in non-breastfed infants.
Assuntos
Bifidobacterium breve , Microbioma Gastrointestinal , Hipersensibilidade/etiologia , Hipersensibilidade/terapia , Oligossacarídeos , Prebióticos , Aleitamento Materno , Disbiose , Feminino , Humanos , Hipersensibilidade/prevenção & controle , Lactente , Recém-Nascido , MasculinoRESUMO
Aim: The plasma homeostasis of both free and esterified carnitines is mostly regulated by renal tubular reabsorption, which may be disturbed in low birth weight children. The aim of study was to check whether disturbances in excretion of l-carnitine (LC) and its main ester, acetyl-carnitine (ALC), may be the result of renal dysfunction in low birth weight children (LBW).Methods: This study included 59 LBW children (2165 g [1490-2440]) and 22 children with normal birth weight as a reference group (3500 g [3275-3650]). Subjects were divided into three groups: 0-3 months, 4-12 months and over 1 year at the time of testing. Urinary levels of carnitine were measured spectrophotometrically.Results: The urine excretion of Free LC, Free LC/cr, Total LC and Total LC/cr. Were significantly higher in 0-3 and 4-12-month old LBW infants study groups when compared to the reference groups. We found statistically significant higher urine excretion of ALC and ALC/cr. in all age groups of LBW infants compared to the reference group. There was a negative correlation between birth weight and free LC/cr. (r= -0.3, p < .05), Total LC/cr. (r= -0.34, p < .05), and ALC/cr. (r= -39, p < .05), and in the children >12-month-old strong negative correlation between eGFR and free LC/cr. (r= -0.6, p < .05), Total LC/cr. (r= -0.61, p < .05), ALC/cr. (r= -0.61, p < .05.)Conclusion: Higher urine excretion of both LC and ALC and its negative correlation with birth weight and eGFR may reflect some degree of renal dysfunction in LBW infants.
Assuntos
Acetilcarnitina , Carnitina , Peso ao Nascer , Criança , Suscetibilidade a Doenças , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , RimRESUMO
PURPOSE: We aimed at evaluating urinary levels of procollagen III aminoterminal propeptide (PIIINP) and ß-catenin and the relationship between these markers and clinical and laboratory variables in children with a solitary functioning kidney (SFK). PATIENTS AND METHODS: The study group consisted of 98 (M/F: 62/36) children with an SFK with a median age of 8 years. An age-matched control group contained 54 healthy peers. Urinary levels of procollagen III aminoterminal propeptide and ß-catenin were measured using a commercially available immunoassay kit. RESULTS: The urinary values of PIIINP (UPIIINP) were significantly increased in patients with SFK versus controls (p < 0.01). Our analysis revealed no significant differences in urinary ß-catenin levels between the SFK patients and control subjects (p > 0.05). Only urinary PIIINP levels were correlated to renal function tests, such as serum creatinine, urea, uric acid, and estimated glomerular filtration rate (p<0.05). CONCLUSIONS: An increased urinary level of PIIINP may indicate early kidney impairment in children with SFK. Urinary ß-catenin does not seem to play any important role as a marker of renal function in children with SFK. Further long-term studies are required in order to evaluate the clinical usefulness of these markers and their predictive value of chronic kidney disease (CKD) progression.
Assuntos
Fragmentos de Peptídeos/urina , Pró-Colágeno/urina , Rim Único/fisiopatologia , Rim Único/urina , beta Catenina/urina , Adolescente , Biomarcadores/urina , Criança , Creatinina/sangue , Feminino , Taxa de Filtração Glomerular , Humanos , Masculino , Curva ROC , Ureia/sangue , Ácido Úrico/sangueRESUMO
Breast cancer (BC) is the most frequent malignancy in both pre- and postmenopausal women. However, it is exceedingly rare in very young patients, and especially in adolescents. Herein, we report a case of an 18-year-old female diagnosed with invasive BC. The proband had been found to be negative for BC in close family members. A common BC genetic screening test for the Polish population did not detect any known founder mutations in the BRCA1 gene. Further evaluation identified a p.Ile157Thr (I157T) mutation in the CHEK2 gene, a p.Ala1991Val (A1991V) variant of unknown significance in the BRCA2 gene, p.Lys751Gln (K751Q) variant in the XPD (ERCC2) gene, and a homozygous p.Glu1008Ter (E1008*) mutation in the NOD2 gene. No other mutation had been found by next generation sequencing in major BC high-risk susceptibility genes BRCA1, BRCA2, as well as 92 other genes. To date, all these found alterations have been considered as low to moderate risk factors in the general population and moderate risk factors in younger women (<35 years of age). There are no previous articles relating low and moderate risk gene mutations to very young onset (below 20 years) BC with a fatal outcome. In our patient, a possible cumulative or synergistic risk effect for these 4 alterations, and a mutation in the NOD2 gene in particular, of which both presumably healthy parents were found to be carriers, is suggested.
Assuntos
Neoplasias da Mama/genética , Predisposição Genética para Doença , Insuficiência de Múltiplos Órgãos/etiologia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Proteína BRCA2 , Neoplasias da Mama/complicações , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/patologia , Quinase do Ponto de Checagem 2 , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Evolução Fatal , Feminino , Triagem de Portadores Genéticos , Heterozigoto , Humanos , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/secundário , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/secundário , Masculino , Mutação , Proteína Adaptadora de Sinalização NOD2/genética , Pais , Taxoides/uso terapêutico , Proteína Grupo D do Xeroderma Pigmentoso/genéticaRESUMO
Central venous catheterization is commonly performed in clinical practice. Traditional procedural technique is based on anatomical landmarks, but is associated with a high risk of failure and complications. To decrease their incidence European and American societies recommend application of ultrasonography. Preliminary ultrasonographic examination allows for assessment of local anatomical relations as well as vessel morphology (diameter, patency), while real-time ultrasonography increases chances of successful needle insertion. This paper presents the most common venous access sites and procedure techniques.
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Cateterismo Venoso Central/métodos , Ultrassonografia de Intervenção/métodos , Veia Axilar/diagnóstico por imagem , Cateterismo Periférico/métodos , Veia Femoral/diagnóstico por imagem , Humanos , Veias Jugulares/diagnóstico por imagem , Veia Subclávia/diagnóstico por imagemRESUMO
Autism spectrum disorder (ASD) is a genetically determined neurodevelopmental brain disorder presenting with restricted, repetitive patterns of behaviors, interests, and activities, or persistent deficits in social communication and social interaction. ASD is characterized by many different clinical endophenotypes and is potentially linked with certain comorbidities. According to current recommendations, children with ASD are at risk of having alimentary tract disorders - mainly, they are at a greater risk of general gastrointestinal (GI) concerns, constipation, diarrhea, and abdominal pain. GI symptoms may overlap with ASD core symptoms through different mechanisms. These mechanisms include multilevel pathways in the gut-brain axis contributing to alterations in behavior and cognition. Shared pathogenetic factors and pathophysiological mechanisms possibly linking ASD and GI disturbances, as shown by most recent studies, include intestinal inflammation with or without autoimmunity, immunoglobulin E-mediated and/or cell-mediated GI food allergies as well as gluten-related disorders (celiac disease, wheat allergy, non-celiac gluten sensitivity), visceral hypersensitivity linked with functional abdominal pain, and dysautonomia linked with GI dysmotility and gastroesophageal reflux. Dysregulation of the gut microbiome has also been shown to be involved in modulating GI functions with the ability to affect intestinal permeability, mucosal immune function, and intestinal motility and sensitivity. Metabolic activity of the microbiome and dietary components are currently suspected to be associated with alterations in behavior and cognition also in patients with other neurodegenerative diseases. All the above-listed GI factors may contribute to brain dysfunction and neuroinflammation depending upon an individual patient's genetic vulnerability. Due to a possible clinical endophenotype presenting as comorbidity of ASD and GI disorders, we propose treating this situation as an "overlap syndrome". Practical use of the concept of an overlap syndrome of ASD and GI disorders may help in identifying those children with ASD who suffer from an alimentary tract disease. Unexplained worsening of nonverbal behaviors (agitation, anxiety, aggression, self-injury, sleep deprivation) should alert professionals about this possibility. This may shorten the time to diagnosis and treatment commencement, and thereby alleviate both GI and ASD symptoms through reducing pain, stress, or discomfort. Furthermore, this may also protect children against unnecessary dietary experiments and restrictions that have no medical indications. A personalized approach to each patient is necessary. Our understanding of ASDs has come a long way, but further studies and more systematic research are warranted.
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OBJECTIVE: Evaluation of the respiratory response to proton pump inhibitors (PPI) in children with obstructive sleep apnea syndrome (OSAS) and gastroesophageal reflux disease (GERD). METHODS: Of 131 children diagnosed with OSAS (Apnea Hypopnea Index, AHI >1/h), 37 children (6.9 years; 28.24%) with GERD symptoms (>3 times/week) were included. Overnight polysomnography with 24h pH-metry was performed before and after 4-8 weeks of PPI treatment (omeprazole once a day, 1mg/kg). RESULTS: Of 37 children, 21 were diagnosed with acid GERD where pre- and post-treatment reflux indexes were 14.09±1.47 vs. 7.73±1.36; (p<0.001). The number of obstructive apneas and hypopneas decreased after PPI treatment, resulting in an AHI reduction from 13.08±3.11/h to 8.22±2.52/h; (p<0.01). Respiratory response to PPI ranged from complete resolution of OSA (three children with mild OSA; AHI<5/h; 10.31years; 14.29%) to lack of significant AHI change (six children with severe OSA; AHI>10/h; 3.62 years; 28.57%). Post-treatment AHI was predicted by pre-treatment reflux index (adjusted R(2)=0.487; p<0.001). CONCLUSIONS: Reduction of obstructive respiratory events following short-term PPI treatment in children with both GERD and OSAS may suggest a causal relationship between apnea and reflux in some children. Questionnaire screening for GERD in children with OSAS may be of benefit.