Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome.

Objective: Children with PTEN hamartoma tumor syndrome (PHTS) are at increased risk for developing thyroid abnormalities, including differentiated thyroid carcinoma (DTC). The Dutch PHTS guideline recommends ultrasound surveillance starting from age 18. Since the literature describes PHTS patients who developed DTC before age 18, the Dutch PHTS expertise centre has initiated annual ultrasound surveillance starting from age 12.

Facilitators and barriers to the transition from outpatient clinic visits to home-based check-ups for children being treated with growth hormone: a mixed-methods study.

Unlabelled: Although the coronavirus disease 2019 (COVID-19) pandemic accelerated the adoption and expansion of telemedicine worldwide, little is known about the transition to home-based care for children. This study aims to investigate the facilitators and barriers to the transition from outpatient clinic visits to home-based check-ups (HBCU), for children being treated with growth hormone. A mixed-methods study was performed at Amalia Children's Hospital (Radboud University Medical Centre, Nijmegen), consisting of questionnaires and semi-structured and focus group interviews.

Parental measurement of height in growth hormone-treated children in the hospital setting proves valid: an observational study - potential for replacement of outpatient clinic visits to the home setting.

Unlabelled: Reliable height measurement plays a pivotal role in evaluating the efficacy of costly growth hormone (GH) therapy in children. Currently, regularly outpatient clinic visits are needed to accurately measure height. The outpatient clinic visits are time-consuming for parents as well for health care professionals.

The Indirect Basophil Activation Test Is a Safe, Reliable, and Accessible Tool to Diagnose a Peanut Allergy in Children.

Background: The gold standard for the diagnosis of a peanut allergy is an oral food challenge (OFC), but it is a time-consuming, patient-unfriendly, and expensive test. The in vitro direct basophil activation test (BAT) for peanuts was shown to be a promising diagnostic tool for replacing the OFC.

Objective: To determine the diagnostic accuracy of the indirect (passive) BAT.

Two-year effects of the community-based overweight and obesity intervention program Gezond Onderweg! (GO!) in children and adolescents living in a low socioeconomic status and multi-ethnic district on Body Mass Index-Standard Deviation Score and quality of life.

Background: In most childhood obesity interventions, disadvantaged groups are underrepresented, and results are modest and not maintained. A long-term collaborative community-based approach is necessary to reach out to children from multi-ethnic backgrounds and achieve sustainable behavior change, resulting in sustained Body Mass Index-Standard Deviation Score (BMI-SDS) reductions. The objective is to determine the effects of GO! on BMI-SDS and Health-Related Quality of Life (HRQoL) for children and adolescents having overweight or obesity.

Cell Biological Responses after Shiga Toxin-1 Exposure to Primary Human Glomerular Microvascular Endothelial Cells from Pediatric and Adult Origin.

Hemolytic uremic syndrome (HUS) is characterized by a triad of symptoms consisting of hemolytic anemia, thrombocytopenia and acute renal failure. The most common form of HUS is caused by an infection with Shiga toxin (Stx) producing bacteria (STEC-HUS), and the kidneys are the major organs affected. The development of HUS after an infection with Stx occurs most frequently in children under the age of 5 years.

Raising the Cut-Off Level of Anti-Tissue Transglutaminase Antibodies to Detect Celiac Disease Reduces the Number of Small Bowel Biopsies in Children with Type 1 Diabetes: A Retrospective Study.

Objective: To study the optimal cut-off value for anti-tissue transglutaminase type 2 IgA antibodies (TG2A) in serum to select for diagnostic small bowel biopsies for celiac disease in children with type 1 diabetes mellitus.

Study Design: Children with type 1 diabetes mellitus with elevated TG2A titers and duodenal biopsies performed during the course of their diabetes treatment were included. Anti-endomysial antibodies were recorded if present.

[New test to detect food allergy: the basophil activation test].

Over recent decades the prevalence of food allergies and the allergy-related costs of care have increased considerably. The double-blind, placebo-controlled food challenge test is the gold standard for diagnosing food allergy. However, this test is not without risk and it is labour-intensive and expensive.

Corrigendum to "Benign course after acute high dose levothyroxine intoxication in a 3-year-old boy".

[This corrects the article DOI: 10.1297/cpe.26.

The Basophil Activation Test reduces the need for a food challenge test in children suspected of IgE-mediated cow's milk allergy.

Background: The gold standard for the diagnosis of cow's milk allergy is the Double-Blind Placebo-Controlled Food Challenge (DBPCFC) test. However, disadvantages of the DBPCFC are the potential risk of anaphylactic reactions, the time-consuming procedure and high costs.

Objective: The aim of this study was to determine the reliability of the Basophil Activation Test (BAT) both for the initial diagnosis of cow's milk allergy in children and for the determination of tolerance in children with cow's milk allergy.

Benign course after acute high dose levothyroxine intoxication in a 3-year-old boy.

Acute ingestion of thyroid hormone preparations is a common intoxication, with 181 cases in children <12 yr in 2009 in the Netherlands, but generally has a mild course. However, some reports show that even low dosages may cause serious events such as seizures, thyroid storm and coma. We report a 3 yr old boy case with an acute intoxication with high dose levothyroxine (0.

Frequent delay of coeliac disease diagnosis in symptomatic patients with type 1 diabetes mellitus: clinical and genetic characteristics.

Background: Patients with type 1 diabetes mellitus (T1DM) are more prone to develop other auto-immune diseases, including coeliac disease (CD). Paediatric patients with T1DM are screened for CD, whereas in adult T1DM patients screening programs for CD are not standardised. The aim of this study was to investigate clinical and genetic characteristics of patients with both diagnoses so as to lead to better detection of CD in adult patients with T1DM.

Probable association of tachyarrhythmia with nebulized albuterol in a child with previously subclinical wolff Parkinson white syndrome.

We present the case of a 2-year-old asthmatic boy with atrioventricular (AV)-reentry tachycardia following albuterol inhalation, who was later diagnosed with Wolff-Parkinson-White (WPW) syndrome. The Naranjo adverse drug reaction probability scale score for this adverse event was 7, indicating that the association between his AV-reentry tachycardia and inhalation of albuterol is probable. To our knowledge, this is the first case report that shows the potential arrhythmogenic effects of albuterol in a child with WPW syndrome.

Foreign adopted children are a source of methicillin-resistant Staphylococcus aureus transmission to countries with low prevalence.

We report a 13.0% prevalence rate of methicillin-resistant Staphylococcus aureus (MRSA) carriers in foreign adopted children, who are frequently hospitalized within the first year after arrival. Hospitalization in the country of origin and special need status are no significant risk factors for MRSA colonization.

Rapid enterovirus molecular testing in cerebrospinal fluid reduces length of hospitalization and duration of antibiotic therapy in children with aseptic meningitis.

We studied the potential benefits of introducing a rapid enterovirus molecular test in children with enterovirus meningitis. The 2 groups of pediatric patients were comparable with respect to clinical and laboratory data, but differed in availability of enterovirus test results. In the control group, the results were available within 3 to 7 days, whereas in the study group, rapid enterovirus molecular test results were available within 3 to 24 hours.

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein.

Objective: While in previous studies heterozygosity for an Insulin-Like Growth Factor 1 (IGF1) defect only modestly decreased height and head circumference, we recently reported on two siblings with severe short stature with a maternally transmitted heterozygous duplication of 4 nucleotides, resulting in a frame shift and a premature termination codon in the IGF1 gene. In this paper we describe the structural and functional characteristics of the putative truncated IGF-I protein.

Design: Two children, their mother and maternal grandfather carried the mutation.

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Context: Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space.

Objective: We evaluated several family members of a large consanguineous family with mental retardation, deafness, and ankylosis.

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

Context: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference.

Objective: The objective of the study was to investigate the clinical features of heterozygous carriers of a novel mutation in the IGF1 gene in comparison with noncarriers in a short family and to establish the effect of human GH treatment.

Cinacalcet for hyperparathyroidism in pregnancy and puerperium.

The efficacy and safety of various modes of medical treatment for primary hyperparathyroidism (PHPT) in pregnancy is largely unknown. This report describes two cases of PHPT in pregnancy that were temporarily treated with the calcimimetic cinacalcet. The first case was diagnosed in the 31st week of pregnancy.

[Acute caffeine intoxication after intake of 'herbal energy capsules'].

Two males, 15 and 17 years old respectively, presented at the Emergency Department complaining of cramping abdominal pain, nausea and vomiting after ingestion of energy capsules. Physical examination revealed sinus tachycardia and slight abdominal pain. Laboratory examination showed substantial hypokalaemia and mild hyperglycaemia.

[Persistent neonatal hypoglycaemia caused by arterial positioning of the umbilical venous catheter].

Two neonates, a girl born at 40 2/7 weeks weighing 4165 g and a boy born at 37 6/7 weeks weighing 4040 g, received umbilical venous catheters to help manage hypoglycaemia. The catheter was ineffective or only effective when high doses of glucose were used, due to what later appeared to be arterial positioning of the catheter. Both patients recovered without consequences.

[Serious side effects of frequently used antibiotics in childhood: biliary sludge or stones induced by ceftriaxone and thrombocytopenia induced by co-trimoxazole].

Two patients, a girl and a boy, both aged 8.5 years, presented with serious side effects caused by ceftriaxone and co-trimoxazole, respectively. The first patientwas treated with ceftriaxone (100 mg/kg/day with a body weight of 35.