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1.
Ned Tijdschr Geneeskd ; 1632019 03 14.
Article in Dutch | MEDLINE | ID: mdl-30945820

ABSTRACT

BACKGROUND: Non-celiac gluten sensitivity (NCGS) is a diagnosis that is increasingly being reported. Psychiatric symptoms can be a rare but serious manifestation of this new clinical entity. CASE REPORT: A 13-year-old girl consulted the paediatrician with abdominal pain, diarrhoea, bloating, and compulsive thoughts and fears; these disappeared on a gluten-free diet. Celiac disease and wheat allergy were excluded. Double-blind placebo-controlled gluten challenge confirmed the diagnosis NCGS. CONCLUSION: Consider a diagnosis of NCGS in patients with psychiatric symptoms in combination with abdominal symptoms.


Subject(s)
Abdominal Pain/complications , Celiac Disease/complications , Diet, Gluten-Free/methods , Fear/psychology , Glutens/adverse effects , Mental Disorders/etiology , Adolescent , Celiac Disease/diagnosis , Celiac Disease/diet therapy , Female , Humans
2.
Eur J Pediatr ; 177(7): 1063-1070, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29717359

ABSTRACT

Serious and fatal complications after button battery ingestion are increasing worldwide. The aim of this study is to describe serious complications after battery ingestion in children in the Netherlands.All pediatric gastroenterologists in the Netherlands performing upper endoscopies were asked to report all serious complications after battery ingestion in children (0-18 years) between 2008 and 2016 retrospectively.Sixteen serious complications were reported: death after massive bleeding through esophageal-aortal fistula (n = 1), esophageal-tracheal fistula (n = 5), stenosis after (suspected) perforation and mediastinitis (n = 5), (suspected) perforation and mediastinitis (n = 3), vocal cord paralysis (n = 1), and required reintubation for dyspnea and stridor (n = 1). The median time interval between ingestion and presentation was 5 (IQR 2-258) h. All children were ≤ 5 (median 1.4; IQR 0.9-2.1) years. Vomiting (31.3%), swallowing/feeding problems (31.3%), and fever (31.3%) were the most common presenting symptoms; however, 18.8% of the patients were asymptomatic (n = 1 missing). All batteries were button batteries (75% ≥ 20 mm; 18.8% < 20 mm; n = 1 missing). The batteries were removed by esophagogastroduodenoscopy (50%) and rigid endoscopy (37.5%) or surgically (12.5%). CONCLUSION: Sixteen serious complications occurred after small and large button batteries ingestion between 2008 and 2016 in both symptomatic and asymptomatic children in the Netherlands. Therefore, immediate intervention after (suspected) button battery ingestion is required. What is Known: • Button battery ingestion may result in serious and fatal complications. • Serious and fatal complications after button battery ingestion are increasing worldwide. What is New: • Sixteen serious complications after button battery ingestion occurred during 2008-2016 in children in the Netherlands. • Serious complications were also caused by small batteries (< 20 mm) in the Netherlands and also occurred in asymptomatic Dutch children.


Subject(s)
Electric Power Supplies/adverse effects , Esophagus/injuries , Foreign Bodies/complications , Child, Preschool , Eating , Endoscopy/statistics & numerical data , Foreign Bodies/mortality , Humans , Infant , Netherlands , Survival Rate
3.
Eur J Hum Genet ; 15(5): 548-55, 2007 May.
Article in English | MEDLINE | ID: mdl-17342151

ABSTRACT

Ring chromosomes are rare cytogenetic findings and are associated at phenotypic level with mental retardation and congenital abnormalities. Features specific for ring chromosome syndromes often overlap with the features of terminal deletions for the corresponding chromosomes. Here, we report a case of a ring chromosome 14 which was identified by conventional cytogenetics and shown to have a terminal deletion and an additional inverted duplication with a triplication by using large insert clone and oligo array-comparative genomic hybridization (array-CGH), fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA). The combination of an inverted duplication with a terminal deletion in a ring chromosome is of special interest for the described syndromes of chromosome 14. The presented findings might explain partly overlapping clinical features described in terminal deletion, duplication and ring chromosome 14 cases, as these rearrangements can be easily overlooked when performing GTG-banding only. Furthermore, we suggest that ring chromosome formation can act as an alternative chromosome rescue next to telomere healing and capture, particularly for acrocentric chromosomes. To our knowledge, this is the first time an inverted duplication with a terminal deletion in a ring chromosome is identified and characterized using high-resolution molecular karyotyping. Systematic evaluation of ring chromosomes by array-CGH might be especially useful in distinguishing cases with a duplication/deletion from those with a deletion only.


Subject(s)
Abnormalities, Multiple/diagnosis , Chromosome Aberrations , Chromosomes, Human, Pair 14/genetics , Intellectual Disability/diagnosis , Oligonucleotide Array Sequence Analysis/methods , Ring Chromosomes , Abnormalities, Multiple/genetics , Child , Female , Gene Duplication , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability/genetics , Sequence Deletion
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