3,490 results match your criteria: "Pediatric Clinic[Affiliation]"

Therapeutic Options for Crigler-Najjar Syndrome: A Scoping Review.

Int J Mol Sci

October 2024

Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.

Article Synopsis
  • Crigler-Najjar Syndrome (CNS) is a rare genetic disorder that leads to severe jaundice due to impaired processing of bilirubin, with two forms: CNS type 1 (more severe) and CNS type 2 (milder).
  • The management of CNS1 is aggressive, often requiring liver transplantation as the only definitive treatment, while CNS2 can be managed with medications like phenobarbital.
  • New therapies, including gene therapy and autologous hepatocyte transplantation, are emerging as potential alternatives to surgery, aiming to enhance treatment effectiveness and improve life quality for CNS patients.
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This review delves into the potential of manipulating the microbiome to enhance oral tolerance in food allergy, focusing on food allergen-specific immunotherapy (FA-AIT) and the use of adjuvants, with a significant emphasis on probiotics. FA-AIT, including oral (OIT), sublingual (SLIT), and epicutaneous (EPIT) immunotherapy, has shown efficacy in desensitizing patients and achieving sustained unresponsiveness (SU). However, the long-term effectiveness and safety of FA-AIT are still under investigation.

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A hydropneumothorax is an uncommon complication of pneumonia, particularly in pediatric patients, and typically arises secondary to conditions such as malignancies, esophageal-pleural fistula, thoracic trauma, or thoracocentesis. While pneumothorax is rarely reported in adults with COVID-19 and is even less common in children, isolated cases have been noted in those with Multisystem Inflammatory Syndrome in Children (MIS-C). A recent alert has also been issued about increased Group A Streptococcus (GAS) infections in Europe.

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Community-acquired pneumonia (CAP) is an acute infection of the lung parenchyma acquired outside the hospital or other healthcare settings, typically affecting previously healthy individuals. This intersociety consensus aims to provide evidence-based recommendations for the antibiotic treatment of mild to moderate CAP in previously healthy children in Italy.A systematic review was conducted to identify the most recent and relevant evidence.

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Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by the predisposition to develop tumors such as malignant peripheral nerve sheath tumors (MPNSTs) which represents the primary cause of death for NF1-affected patients. Regardless of the high incidence and mortality, the molecular mechanisms underneath MPNST growth and metastatic progression remain poorly understood. In this proof-of-concept study, we performed somatic whole-exome sequencing (WES) to profile the genomic alterations in four samples from a patient with NF1-associated MPNST, consisting of a benign plexiform neurofibroma, a primary MPNST, and metastases from lung and skin tissues.

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Congenital cytomegalovirus (cCMV) is the most common cause of congenital infection and the leading cause of non-genetic sensorineural hearing loss in childhood. While treatment trials have been conducted in symptomatic children, defining asymptomatic infection can be complex. We performed a scoping review to understand how infection severity is defined and treated globally, as well as the various indications for initiating treatment.

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Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in children with inflammatory bowel disease (IBD) has been reported only anecdotally. This study aimed at describing the clinical features and outcomes of children diagnosed with both IBD and HLH/MAS. Data on IBD and HLH/MAS characteristics, biochemical, microbiological and genetic assessments, treatments, and outcomes were collected from the Italian Pediatric IBD Registry and presented using descriptive statistics.

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The Multidimensional Condition of Systemic Cooling Poverty Affecting Children's Health Worldwide.

J Pediatr

January 2025

European Pediatric Association, Union of National European Pediatric Societies and Associations, Berlin, Germany; Department of Pediatrics, Cerrapasha University, Istanbul, Turkey; Turkish Pediatric Association, Istanbul, Turkey.

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Article Synopsis
  • Allergic rhinitis (AR) is common among children, prompting the Italian Society of Pediatric Allergology and Immunology to survey pediatricians about their management practices for AR.
  • The survey included input from 864 primary care pediatricians, revealing that they collectively manage over 81,000 children with AR, with a majority adhering to ARIA guidelines.
  • Findings show that 42% of children have mild AR while 58% have moderate to severe cases, with intranasal corticosteroids being the most frequently prescribed medication, alongside oral antihistamines and nasal lavages.
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  • Alström disease is a rare genetic disorder linked to mutations in the ALMS1 gene, causing diverse issues across multiple organ systems, including heart and sensory problems, but with significant variability between patients.
  • The case study focuses on a 4-month-old girl who showed symptoms like dilated cardiomyopathy and neurosensory deficits, prompting genetic testing that confirmed Alström syndrome.
  • The findings highlight the challenges in linking specific genetic mutations to clinical symptoms, underscoring the need for more research on phenotype-genotype relationships in Alström disease.
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Epidemiology of severe asthma in children: a systematic review and meta-analysis.

Eur Respir Rev

October 2024

Pediatric Unit, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.

Article Synopsis
  • Severe asthma affects a small percentage of children, leading to frequent symptoms and hospitalizations, but global data on its prevalence is limited.
  • This study performs a systematic review and meta-analysis of existing research to provide insights into the prevalence and regional variations of severe asthma in children, sourcing data from studies published since 2003.
  • The meta-analysis found that the prevalence of severe asthma in European children aged 5-18 is around 3%, highlighting the need for future research to establish incidence rates, standardize definitions, and explore related health issues and treatment options.
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  • Precocious puberty (PP) in girls is characterized by breast development before age 8, with a diagnostic procedure using GnRH stimulation to measure LH levels, traditionally with a cutoff of 15 IU/L, but many still showed lower levels.
  • The study aimed to establish a new lower LH threshold of 5 IU/L for earlier diagnosis of central precocious puberty (CPP) and assess other diagnostic parameters.
  • Results indicated that girls with higher LH levels and other indicators, like growth velocity, were more likely to have axis activation, leading to the new proposed LH threshold for better diagnostic accuracy.
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Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series.

J Child Neurol

January 2025

Pediatric Clinic, "Microcitemico - A. Cao" Pediatric Hospital, University of Cagliari, Cagliari, Italy.

Article Synopsis
  • - Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation that leads to issues like vascular and neurological abnormalities.
  • - Serious complications can include moyamoya syndrome, which causes the progressive narrowing of brain arteries, and renal artery stenosis, a common cause of high blood pressure in NF1 patients.
  • - The article reviews clinical cases of NF1 vasculopathy, focusing on diagnosis, management, and potential future strategies for screening and treatment options.
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Article Synopsis
  • The study looked at how serious Human Adenovirus (HAdV) infections are compared to other viral illnesses in kids with breathing problems in Italy.
  • They found that kids with HAdV showed more inflammation but didn't have worse breathing issues than those with other viruses.
  • The research highlights the need to identify HAdV early to avoid giving unnecessary antibiotics, since many kids might get treated for bacterial infections when they really have a virus.
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Article Synopsis
  • Juvenile Idiopathic Arthritis (JIA) encompasses various chronic inflammatory conditions that can lead to different health issues in children, notably growth retardation and delayed puberty.
  • Complications such as these are linked to the severity and duration of the disease, with reports indicating growth impairment in 8% to 41% of affected children, while data on puberty delays is limited.
  • Optimizing treatment for JIA, including the use of biological therapies, is crucial for improving growth outcomes and minimizing long-term health impacts, highlighting the need for early detection and preventive measures in affected children.
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Article Synopsis
  • A study in Yamagata, Japan, analyzed blood samples from different years (1976-2019) to understand the prevalence of enterovirus D68 (EV-D68), a virus that was uncommon in the 20th century.
  • The research found that neutralizing antibody positive rates in people under 20 years increased significantly over the years, suggesting rising exposure to EV-D68.
  • The study also indicated that while children show a gradual increase in seroprevalence, adults reach a high plateau, indicating consistent transmission of the virus among children even when it was rarely detected.
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Objectives: Patients with advanced cancer present various symptoms as their disease progresses. Among these, fatigue is a frequent symptom in patients with advanced cancer and is associated with decreased quality of life (QOL). However, there are few reports regarding its association with thiamine deficiency (TD).

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Pertussis Epidemiology in Children: The Role of Maternal Immunization.

Vaccines (Basel)

September 2024

Pediatric Clinic, Department of Medicine and Surgery, University of Parma, 43121 Parma, Italy.

In the last twelve months, a significant global increase in pertussis cases has been observed, particularly among infants under three months of age. This age group is at the highest risk for severe disease, hospitalization, and death. Maternal immunization with the Tdap vaccine during pregnancy has been recommended to protect newborns by transferring maternal antibodies transplacentally.

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Article Synopsis
  • Complementary feeding (CF) is the method of adding solid or liquid foods to an infant's diet when breast milk or formula no longer meets their nutritional needs, and pediatricians play a key role in educating families about this process.
  • An exploratory survey of 1,620 primary care pediatricians (PCPs) revealed that while many understood CF approaches like baby-led weaning, only a minority recommended these methods widely.
  • Most PCPs suggested starting CF between 4 to 6 months, but opinions on plant-based diets and the introduction of allergenic foods varied, indicating a need for better consensus and training among PCPs regarding CF.
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: Deoxyguanosine Kinase (DGUOK) deficiency is a very rare disorder characterized by liver dysfunction, neurological manifestations, and metabolic disorders secondary to severely reduced mitochondrial DNA content. These patients develop early-onset liver failure, and their liver transplantation (LT) indication remains debatable due to the possibility of neurological involvement. : We present the case of a 6-month-old female diagnosed with DGUOK deficiency who developed liver failure.

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Expanding the Spectrum of Autosomal Dominant -Related Disease: Case Report and Literature Review.

Genes (Basel)

September 2024

Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.

Article Synopsis
  • Developmental and epileptic encephalopathies (DEE) are disorders that can be caused by new mutations in a specific gene, leading to different symptoms, from severe conditions to milder ones like autism.
  • A case study of a six-year-old boy showed he had a new mutation in that gene, but he did not develop epilepsy and had a normal brain scan over five years.
  • This case helps us understand that not everyone with mutations in this gene will have serious problems, which is important for doctors to know when diagnosing developmental delays.
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: Kawasaki disease (KD) is a systemic vasculitis of medium arteries, particularly involving coronary arteries. Coronary artery lesions (CALs) is the most serious complication in the acute stage, potentially leading to ischemic cardiomyopathy, myocardial infarction and sudden death. Environmental factors and genetic background contribute to individual susceptibility to develop CALs.

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The present study aimed to investigate the effects of the ethanol extract (GPEE) on oxidative stress, inflammation, and metabolic markers in a rat model of streptozotocin-induced diabetes mellitus (DM). Phytochemical analysis using high-performance liquid chromatography coupled with mass spectrometry was performed to measure the total phenolic and flavonoid contents. In vitro antioxidant activity was evaluated through DPPH, FRAP, HO, and NO scavenging tests, and the in vivo effects of the GPEE were assessed in streptozotocin-induced DM rats.

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Background: Infantile haemangiomas (IHs) sometimes require treatment with propranolol. Sleep disturbances are the most frequently reported side effects. Monitoring adverse drug events necessitates repeated hospital visits, which can be challenging during a pandemic.

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The Role of Diet and Physical Activity in Obesity and Overweight in Children with Down Syndrome in Developed Countries.

Children (Basel)

August 2024

Pediatric Clinic, Department of Surgical Sciences, Dentistry, Pediatrics and Gynecology, University of Verona, 37126 Verona, Italy.

Down's syndrome (DS), or Trisomy 21, represents the most common chromosomal abnormality in live births, characterized by an extra chromosome 21. Children affected by Down's syndrome are more susceptible to the development of obesity and of becoming overweight compared with other children. Furthermore, they seem to present a more unfavorable lipid profile than the non-DS obese pediatric population.

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