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1.
BMC Pediatr ; 20(1): 262, 2020 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-32471401

RESUMEN

BACKGROUND: Concerns have recently been raised about reported incidents of intestinal obstruction following ingestion of Superabsorbent polymer (SAP) beads. Texas Poison Centers reported 110 cases of superabsorbent polymer bead ingestions between 2011 and 2016 (Pediatr Emerg Care 35:426-7, 2019). Furthermore, cases of related auditory complications following the placement of SAP beads into the external auditory canal have also been reported. Here, we report the first case of significant airway damage secondary to the ingestion of a SAP bead (Orbeez), which was aspirated and then overlooked. Further, we hypothesized that the capability of the bead to expand in size once exposed to water from the respiratory mucous may contribute to airway damage. CASE PRESENTATION: A 3-year-old boy presented to our hospital with persistent cough and recurrent hospitalizations to the general ward and intensive care unit. The boy was diagnosed with focal lung bronchiectasis in the left lower lobe, which occurred after the patient aspirated an Orbeez bead before a year. The bead was removed using flexible bronchoscopy and a retrieval basket. CONCLUSION: Orbeez beads are commonly ingested by young children resulting in gastrointestinal obstruction. The beads can easily be aspirated by children and overlooked by their caregivers and physicians for long periods of time due to their small size. The bead can cause significant airway damage after multiplying in size when coming into contact with respiratory mucus which consists of 95% water.


Asunto(s)
Cuerpos Extraños , Obstrucción Intestinal , Broncoscopía , Niño , Preescolar , Cuerpos Extraños/complicaciones , Cuerpos Extraños/diagnóstico , Humanos , Pulmón , Masculino , Polímeros , Texas
2.
Cureus ; 15(5): e39344, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37351244

RESUMEN

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive inherited heterogeneous respiratory disorder. The diagnosis of PCD is challenging and necessitates a multi-test diagnostic approach because there are no gold standard diagnostic tests available to confirm PCD. However, rapid advancement in understanding the molecular genetic basis of PCD has greatly improved PCD diagnosis. Studies have reported that PCD may increase the risk of rheumatoid arthritis, congenital heart disease, severe esophageal diseases, and others. Therefore, the present study aimed to assess the risk of type 1 diabetes mellitus (T1DM) in a genetically confirmed PCD patient. In this case study, an 11-year-old girl with autosinopulmonary infections and her younger brother were diagnosed with PCD. The patient's DNA was extracted for next-generation exome sequencing. Our analysis of the exome sequencing data revealed the PCD-causing genetic variant p.Glu286del in the RSPH9 gene on chromosome 6p21.1. In addition, the biochemical findings at the time of patient's admission showed elevated glutamic acid decarboxylase antibodies, HbA1c, and ketone levels, with impaired glucose tolerance, which indicated the presence of T1DM. In conclusion, the clinical features, biochemical reports, and genetic testing confirmed PCD in this patient and the possible association between PCD and T1DM.

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