Pineal cyst-related sleep disorders – a narrative review

The pineal gland is an endocrine gland, which is responsible for the human circadian rhythm, through the regulation of its hormone – melatonin. The most common pathology of a pineal gland is pineal cyst – its population incidence is estimated as 1-23%, depending on the publication. The most common symptoms of a pineal cyst include headache (87%), visual field defects (54%), nausea/vomiting (34%), and dizziness/vertigo (31%). Among the majority of patients with the asymptomatic pineal cyst, the wait-and-see strategy is proper.             According to the newest meta-analyze, the prevalence of sleep disturbances among patients with pineal cyst estimates to be 17%. The results of direct melatonin level measurements in pineal cysts remain unclear. The study focused on sleep disturbances in pediatric patients with pineal cysts and showed a significantly higher score on Sleep Disturbance Scale for Children (SDSC) in the domains of disorders of excessive sleepiness and disorders of initiating and maintaining sleep than the control groups. The impact of lesion on sleep quality correlated with its size.             The pineal cyst may be considered a rare, and potentially reversible, cause of sleep disorders. Nevertheless, according to the present reports (often opposite to each other), this thesis and the mechanism of its occurrence need to be further researched

Multidisciplinary approach for a severe head burn caused by high-voltage electrical shock - a case report

In modern reconstructive medicine, personalized bone substitutes provide therapeutic hope for patients with non-standard bone defects. The study aims to present a description of a case of using a personalized bone substitute material, taking into account the vascular connections formed after a previous skin transplant.  The 29-year-old patient was admitted to the plastic surgery department urgently after being electrocuted with high voltage. Due to extensive scalp burns, a skin graft was performed in the area of previously removed skin along with a charred skull bone vault.  After a few months, the patient was qualified for cranioplasty with the use of personalized bone substitutes. The necessity to make cuts around the vascular connections present in the transplanted tissue was the main difficulty in the for the operator.  The operation was successful and the recovery was uneventful. The patient was discharged home in good general and local condition.  The presented case illustrates the need to take into account creating vascular connections with the use of personalized bone substitutes in patients after skin transplants

Severe course of radiation-induced meningioma — a new insight in screening for patients after radiotherapy?

Meningiomas, being mostly benign tumours, are derived from the arachnoid cap cells. Their etiopathogenesis is based on various factors, including past radiation. The presented case of a 25-year-old patient, who developed a radiation-induced superior sagittal sinus meningioma based on his past head radiation distributed during acute lymphocytic leukaemia. The tumour’s clinical image presented at first as headache, nausea, and dizziness, computer tomography and subsequently MRI were performed. The imaging examination revealed a very extensive, contrast-enhanced tumour mass located centrally on both sides and within the superior sagittal sinus. With the most likely diagnosis of parasagittal meningioma, the patient was qualified for tumour excision. The surgery was performed successfully resulting in maximal safe subtotal resection. After the surgery, the patient developed complications including hydrocephalus, which resulted in 5-months long hospitalization. The presented case illustrated the need for increased clinical attention in patients threatened by radiation (including radiotherapy), focused on possible head lesions

Low serum 25-hydroxyvitamin d level does not adversely affect bone turnover in prepubertal children

Both vitamin D and insulin-like growth factor 1 (IGF-1) play essential roles in bone metabolism and may interact during prepubertal bone accrual. We investigated the association of low serum 25-hydroxyvitamin D (25(OH)D) (<20 ng/mL) with the circulating bone turnover markers, when compared to their interaction with IGF-1. Subjects and Methods: Serum 25(OH)D, IGF-I, P1NP (N-terminal propeptide of type I procollagen), and CTX-1 (C-terminal telopeptide of type I collagen) were measured, and the bone turnover index (BTI) was calculated in 128 healthy children, aged 9–11 years. Results: Mean 25(OH)D concentration was 21.9 ± 4.9 ng/mL, but in 30.5% of participants it was <20 ng/mL (<50 nmol/L). We observed a trend for higher P1NP (p < 0.05) and IGF-1 (p = 0.08), towards lower 25(OH)D in tertiles. Levels of P1NP in the lowest 25(OH)D tertile (<20 ng/mL) were the highest, while CTX and BTI remained unchanged. Additionally, 25(OH)D negatively correlated with IGF-1, while the correlation with P1NP was not significant. A strong positive correlation of IGF-1 with P1NP and BTI but weak with CTX was observed. Low 25(OH)D (<20 ng/mL) explained 15% of the IGF-1 variance and 6% of the P1NP variance. Conclusions: Low levels of 25(OH)D do not unfavorably alter bone turnover. It seems that serum 25(OH)D level may not be an adequate predictor of bone turnover in children

Proteogenomic insights into the biology and treatment of HPV-negative head and neck squamous cell carcinoma

We present a proteogenomic study of 108 human papilloma virus (HPV)-negative head and neck squamous cell carcinomas (HNSCCs). Proteomic analysis systematically catalogs HNSCC-associated proteins and phosphosites, prioritizes copy number drivers, and highlights an oncogenic role for RNA processing genes. Proteomic investigation of mutual exclusivity between FAT1 truncating mutations and 11q13.3 amplifications reveals dysregulated actin dynamics as a common functional consequence. Phosphoproteomics characterizes two modes of EGFR activation, suggesting a new strategy to stratify HNSCCs based on EGFR ligand abundance for effective treatment with inhibitory EGFR monoclonal antibodies. Widespread deletion of immune modulatory genes accounts for low immune infiltration in immune-cold tumors, whereas concordant upregulation of multiple immune checkpoint proteins may underlie resistance to anti-programmed cell death protein 1 monotherapy in immune-hot tumors. Multi-omic analysis identifies three molecular subtypes with high potential for treatment with CDK inhibitors, anti-EGFR antibody therapy, and immunotherapy, respectively. Altogether, proteogenomics provides a systematic framework to inform HNSCC biology and treatment.[Display omitted]•A systematic inventory of HNSCC-associated proteins, phosphosites, and pathways•Three multi-omic subtypes linked to targeted treatment approaches and immunotherapy•Widespread deletion of immune modulatory genes accounts for loss of immunogenicity•Two modes of EGFR activation inform response to anti-EGFR monoclonal antibodiesHuang et al. report a proteogenomic study on 108 HPV-negative head and neck squamous cell carcinomas (HNSCCs). In addition to creating a comprehensive resource for pathogenic insights, multi-omic analysis identifies therapeutic hypotheses that may inform more precise approaches to treatment