Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339642PMC
http://dx.doi.org/10.21037/qims-20-943DOI Listing

Publication Analysis

Top Keywords

10-year-old girl
4
girl joubert
4
joubert syndrome
4
syndrome chronic
4
chronic kidney
4
kidney disease
4
disease complications
4
10-year-old
1
joubert
1
syndrome
1

Similar Publications

"Innovative multidisciplinary care in pediatric magnet aspiration: A case report".

Int J Surg Case Rep

January 2025

Department of Pediatric Surgery, The University of Child Health Sciences and The Children's Hospital, Lahore, Lahore - Kasur Rd, Nishtar Town, Lahore, Punjab, Pakistan 54000.

Introduction: Foreign body (FB) inhalation is a potentially life-threatening condition in children. Magnets, being rare, aspirated objects, pose significant threat due to their physical and magnetic properties.

Case Presentation: A 10-year-old girl with a history of magnet aspiration went into respiratory distress due to dislodgement of magnet to opposite main bronchus following failed attempt of removal via Rigid Bronchoscopy.

View Article and Find Full Text PDF

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.

View Article and Find Full Text PDF

This study presents two cases of central sleep apnea syndrome in children, highlighting the utility of assessing ventilatory control stability, particularly loop gain and central chemosensitivity in treatment decision-making. In the first case, elevated loop gain for oxygen correlated with periodic breathing, leading to successful treatment with supplemental oxygen in a 13 year-old boy with Prader-Willi-like syndrome. Conversely, in the second case, dealing with a 10 year-old girl with tumor in the brainstem-spinal cord junction, reduced loop gain prompted treatment with nocturnal non-invasive ventilation.

View Article and Find Full Text PDF

Aseptic Meningitis and White Matter Disease in Childhood-Onset Neuropsychiatric Lupus.

Case Rep Rheumatol

December 2024

Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, King's Park, Hong Kong.

We reported a 10-year-old girl who had an atypical demyelinating disease as the presentation of her neuropsychiatric lupus. The patient had a 4-year history of systemic lupus erythematosus which had been on remission until she presented with fever and headache at the age of 10 years. Physical examination showed meningism.

View Article and Find Full Text PDF

Lateral humeral condyle fractures are common in children, but concomitant elbow dislocation is rare. This case report involves a 10-year-old girl with an ipsilateral distal both-bone forearm fracture and a lateral humeral condyle fracture accompanied by a posterolateral elbow dislocation. Closed reduction of the elbow was performed in the emergency department without delay, and the patient was operated on as soon as possible.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!