A 15-year-old boy presented as a direct referral for polysomnography for evaluation of snoring, unrefreshing sleep, and daytime sleepiness despite a self-reported average of 8 hours of sleep a night. The mother reported he snored intermittently, although there were no witnessed apneic episodes or fragmented sleep. He denied morning headaches. He reported that his sleep was generally unrefreshing and he would experience significant daytime sleepiness, especially after school or when doing his homework. However, his Epworth Sleepiness Scale score was only 3 of 24. He denied any symptoms consistent with a movement disorder, parasomnia, cataplexy, hypnogogic/hypnopompic hallucinations, sleep paralysis, circadian rhythm disorders, or insomnia. He reported a family history of sleep apnea in his grandfather.
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http://dx.doi.org/10.1016/j.chest.2016.09.007 | DOI Listing |
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Cureus
November 2024
General Medicine, Felix Hospital, Noida, IND.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare, autosomal recessive liver disorder characterized by intermittent episodes of cholestasis without progression to chronic liver disease or cirrhosis. Patients experience recurrent jaundice and severe pruritus, significantly impacting their quality of life. This case report presents a 15-year-old boy with a history of recurrent jaundice and pruritus.
View Article and Find Full Text PDFCureus
November 2024
Department of Cardiology, Aizawa Hospital, Matsumoto, JPN.
This case report describes a 15-year-old boy who presented with vasospastic angina (VSA). His symptoms included chest and back pain, nausea, and respiratory distress. After undergoing diagnostic tests, including coronary angiography and an acetylcholine provocation test, the patient was diagnosed with VSA.
View Article and Find Full Text PDFBMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
Background: Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life.
View Article and Find Full Text PDFJ Orthop Case Rep
December 2024
Department of Orthopaedics, Maharishi Markandeshwar Institute of Medical Sciences and Research (MMIMSR), Ambala, Haryana, India.
Introduction: Tuberculosis (TB) of the wrist joint is a rare presentation of extrapulmonary TB, accounting for about 1% of musculoskeletal TB cases. We present a case of wrist joint TB in a 15-year-old immunocompetent male patient.
Case Report: A 15-year-old boy presented with 6-month history of left wrist swelling and pain along with constitutional symptoms for 2 months.
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