Background/objective: Decisions to use open surgery or radiotherapy in pediatric patients with familial neoplastic syndromes must consider not only the symptomatic benefits of treatment, but also future limitations these treatments may impose. Specifically, open surgical resection of noncurable tumors may preclude or encumber future lesion resections, while radiotherapy has detrimental effects on pediatric cognitive development and increases the risk of future malignancy development. We provide the first report of using a novel 3.0-mm diffusing laser tip with laser-induced thermal therapy (LiTT) to treat a pediatric patient with neurofibromatosis type 1 (NF-1).
Methods: A 12-year-old boy with NF-1 presented with a progressively enlarging lesion in the right midbrain. A stereotactic biopsy was performed, followed by LiTT with a novel 3.0-mm laser applicator.
Results: MRI 1 week after LiTT showed stable gross total ablation of the lesion with reduction in fluid-attenuated inversion recovery signal. The patient remained neurologically intact 6 months after his procedure, and follow-up MRI showed no evidence of recurrence.
Conclusion: LiTT is a powerful adjunct to conventional open surgical and radiotherapy modalities in the treatment of patients with familial neoplastic syndromes or incurable lesions. The novel laser applicator tip described expands the treatment scope of this technique.
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http://dx.doi.org/10.1159/000368907 | DOI Listing |
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
BMC Psychol
January 2025
Department of Obstetrics, The Juliane Marie Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Background: Reduced well-being and depressive episodes frequently complicate pregnancy and can result in serious adverse outcomes for both mother and infant if left untreated. This study aimed to assess the psychometric validity of the 5-item World Health Organization index (WHO-5), and to evaluate if the WHO-5 index can serve as a proxy for two items of core depressive symptoms from the Major Depression Inventory (MDI), identified as MDI-2. Additionally, the paper aimed to assess well-being and detect risk factors of reduced well-being using the WHO-5 index.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Background: Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death. In severe cases of HoFH, clinical signs and symptoms cannot be controlled well by non-surgical treatments, liver transplantation (LT) currently represents the viable option.
Method: To assess the clinical efficacy, prognosis, and optimal timing of LT for HoFH, a retrospective analysis was conducted on the preoperative, surgical conditions, and postoperative follow-up of children who received an LT for HoFH at the Beijing Friendship Hospital over the period from December 2014 to August 2022.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
BMC Psychiatry
January 2025
The First Hospital of Jilin University, Changchun, Jilin Province, China.
Purpose: Breast cancer, as a stressful event, profoundly impacts the entire family, especially patients and their spouses. This study used a dyadic analysis approach to explore the dyadic effects of illness perception on the fear of cancer recurrence (FCR) and whether maladaptive cognitive-emotional regulation strategies acted as a mediator in breast cancer patient-spouse dyads.
Methods: This was a cross-sectional study, and 202 dyads of breast cancer patients and their spouses were enrolled.
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