Objective: To assess the follow-up of children diagnosed as having familial hypercholesterolemia (FH) in the nationwide DNA-based cascade screening program (the Netherlands).
Study Design: Questionnaires covering topics such as demographics, family history, physician consultation, and treatment were sent to parents of patients with FH (age 0-18 years), 18 months after diagnosis.
Results: We retrieved 207 questionnaires of patients aged 10.9 ± 4.2 years (mean ± SD) at diagnosis; 48% were boys, and the mean low-density lipoprotein cholesterol (LDL-C) level at diagnosis was 167 ± 51 mg/dL. Of these patients, 164 (79%) consulted a physician: a general practitioner (35%), lipid-clinic specialist (27%), pediatrician (21%), internist (11%), or another physician (6%). LDL-C level at diagnosis and a positive family history for cardiovascular disease were independent predictors for physician consultation. Of the patients who visited a physician, 62% reported to have received lifestyle advice, and 43 (26%) were prescribed statin treatment. Independent predictors for medication use were age, LDL-C level, and educational level of parents.
Conclusion: The follow-up of children with FH after diagnosis established through cascade screening is inadequate. Better education of patients, parents, and physicians, with a structured follow-up after screening, should improve control of LDL-C levels and hence cardiovascular risk in children with FH.
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http://dx.doi.org/10.1016/j.jpeds.2011.12.037 | DOI Listing |
Pediatr Surg Int
January 2025
Department of Pediatric Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa, Nagoya, Aichi, 466-8550, Japan.
Purpose: To analyze the frequency and predictive factors of the development of postoperative pectus excavatum and scoliosis in children who underwent surgery for cystic lung disease.
Methods: This study examined patients who underwent surgery for cystic lung disease (open and thoracoscopic) between July 2000 and December 2018 with a > 3-year follow-up period. Lesion size, surgical outcomes, and subsequent musculoskeletal complications were compared between the open surgery and thoracoscopic surgery groups.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Epilepsia
January 2025
National Center for Epilepsy, Division of Clinical Neuroscience, full member of European Reference Network EpiCARE, Oslo University Hospital, Oslo, Norway.
Objective: This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications.
Methods: The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy cases were identified through registry linkages facilitated by Norway's universal health care system and mandatory reporting to the Norwegian Patient Registry.
J Public Health Dent
January 2025
Dental Public Health, Centre for Host-Microbiome Interactions, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London, UK.
Objective: To evaluate the effect of childhood dental attendance pattern on self-rated oral health in middle adulthood among the British population.
Methods: Data from the 1970 British Cohort Study involving participants born in England, Scotland, and Wales were used. Self-rated oral health was assessed at age 46.
Urologia
January 2025
Department of Pediatric and Neonata Surgery, Sher-i-Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India.
Introduction: Laparoscopic Fowler Stephens orchidopexy, single stage or two-stage, is now routinely performed in non-palpable testis. We performed second stage orchidopexy as open inguinal approach and compared the outcome of this approach to two-staged laparoscopic orchidopexy.
Methods: We performed a prospective randomized interventional study of two different approaches for intra-abdominal testis.
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