The Impact of Growth Hormone Therapy on Sleep-Related Health Outcomes in Children with Prader–Willi Syndrome: A Review and Clinical Analysis

This literature review of growth hormone (GH) therapy and sleep-related health outcomes in children diagnosed with Prader–Willi syndrome (PWS) assembles evidence for the consequences of sleep deprivation and poor sleep quality: difficulty concentrating and learning at school, behavioral problems, diminished quality of life, and growth impairment. Sleep-disordered breathing (SDB) is another factor that impacts a child’s well-being. We searched the electronic databases Medline PubMed Advanced Search Builder, Scopus, and Web of Science using MeSH terms and text words to retrieve articles on GH deficiency, recombinant human growth hormone (rhGH) therapy, sleep quality, SDB, and PWS in children. The censor date was April 2023. The initial search yielded 351 articles, 23 of which were analyzed for this review. The study findings suggest that while GH may have a role in regulating sleep, the relationship between GH treatment and sleep in patients with PWS is complex and influenced by GH dosage, patient age, and type and severity of respiratory disorders, among other factors. GH therapy can improve lung function, linear growth, and body composition in children with PWS; however, it can also trigger or worsen obstructive sleep apnea or hypoventilation in some. Long-term GH therapy may contribute to adenotonsillar hypertrophy and exacerbate sleep apnea in children with PWS. Finally, GH therapy can improve sleep quality in some patients but it can also cause or worsen SDB in others, leading to diminished sleep quality and overall quality of life. The current evidence suggests that the initial risk of worsening SDB may improve with long-term therapy. In conclusion, rhGH is the standard for managing patients with PWS. Nonetheless, its impact on respiratory function during sleep needs to be thoroughly evaluated. Polysomnography is advisable to assess the need for adenotonsillectomy before initiating rhGH therapy. Close monitoring of sleep disorders in patients with PWS receiving GH therapy is essential to ensure effective and safe treatment

Urinary free cortisol assessment by liquid chromatography tandem mass spectrometry: a case study of ion suppression due to unacquainted administration of piperacillin

Introduction: Liquid chromatography coupled to atmospheric pressure ionization tandem mass spectrometry (LC-ESI-MS/MS) is currently considered the reference method for quantitative determination of urinary free cortisol (UFC). One of the major drawbacks of this measurement is a particular form of matrix effect, conventionally known as ion suppression. Materials and methods: We describe here the case of a 66-year-old-patient referred to the daily service of general medicine for intravenous antibiotic administration due to a generalized Staphylococcus aureus infection and for routine 24 hours UFC monitoring in the setting of glucocorticoid replacement therapy. Results: The observation of 10-fold decrease of internal standard of cortisol signal led us to hypothesize the presence of an ion suppression effect due to a co-eluting endogenous compound. Screening analysis of tandem mass spectrometry (MS/MS) spectra of the interfering molecule, along with in vitro confirmation analyses, were suggestive of the presence of high concentration of piperacillin. The problem was then easily solved with minor modifications of the chromatographic technique. Conclusions: According to our findings, antibiotic therapy with piperacillin/tazobactam should be regarded as an important interference in UFC assessment, which may potentially affect detection capability, precision and accuracy of this measurement. This case report emphasizes that accurate anamnesis and standardization of all phases of urine collection are essential aspects for preventing potential interference in laboratory testing. \ua9 Croatian Society of Medical Biochemistry and Laboratory Medicine

Worldwide Interest in Vitamin D, Negative Effects on Kidneys, and Bone Density: Analysis of Google Trends Data

Background: Besides its role in calcium homeostasis and bone mineralization, vitamin D may also reduce the risk of cancer, cardiovascular and autoimmune diseases. Excessive vitamin D intake can lead to life-threatening hypercalcemia and toxicity, however. Here, we wanted to determine the relative search volume (RSV) of interest in vitamin D and its adverse biological effects (hypercalcemia, renal failure, kidney stones, bone density).Methods: We used data from Google Trends to assess changes in RSV trends across the world's regions. Data were extracted via the search terms "cholecalciferol", "ergocalciferol, "hypercalcemia", "acute renal failure", "kidney stones", and "bone density" from queries in English from 1 January 2004 to 1 October 2018 in the tool's related query database. Statistical analysis was performed using SPSS (R) 22.0 for Windows (IBM Inc., Armonk, NY, USA, 10504-1722).Results: There was a correlation between the RSV of cholecalciferol and ergocalciferol (Spearman's correlation) and the RSV of hypercalcemia, renal failure, kidney stones, and bone density. As measured by the change in RSV score, the trend for interest in kidney stones increased more rapidly than that for the other search terms. There was a positive correlation between the RSV score for cholecalciferol (or ergocalciferol) and renal failure and between the RSV score for cholecalciferol (or ergocalciferol) and kidney stones, whereas there was a negative correlation between cholecalciferol and hypercalcemia. The interest of ergocalciferol increased in parallel with the interest in bone density. The highest concentration of interest in cholecalciferol occurred in North America, Europe, India and Australia, whereas interest in ergocalciferol was greater in Central and South America, Spain, and Thailand. Interest in kidney stones was greater than cholecalciferol in North America, Brazil, India, and Australia, while interest in bone density was greater than cholecalciferol in North America, Brazil, Italy, Spain, South Africa, and Australia.Conclusions: In the pre-pandemic COVID-19 (COronaVIrus Disease 19) era, our preliminary results showed a positive correla-tion between global interest in cholecalciferol and kidney stones and renal failure, respectively. However, we found an unexpected negative correlation between global interest in cholecalciferol and hypercalcemia. Additionally, we found a positive correlation between global interest in ergocalciferol and bone density. These correlations can inform health interventions and education

Complex relationship between growth hormone and sleep in children: insights, discrepancies, and implications

Growth hormone (GH) is crucial to growth and development. GH secretion is regulated by a complex feedback system involving the pituitary gland, hypothalamus, and other organs, and predominantly occurs during deep sleep. Isolated and idiopathic growth hormone deficiency (GHD) is a condition characterized by GHD without any other signs or symptoms associated with a specific syndrome or disease. The aim of this narrative review was to evaluate the relationship between GH and sleep in children using published data. Various databases (Medline/PubMed, Scopus, and Web of Science) were systematically searched for relevant English language articles published up to April 2023. Search strategies included the terms ‘children/pediatric’, ‘growth hormone’, ‘growth hormone deficiency’ and ‘sleep’. Data were extracted by two independent reviewers; 185 papers were identified of which 58 were duplicates and 118 were excluded (unrelated n=83, syndromic/genetic GHD n=17, non-English n=13, abstract n=1, case report n=1). Overall, nine studies (six clinical studies, two case series, and one survey) were included. GHD appears to have an adverse effect on sleep in children, and GH therapy has only been shown to have a beneficial effect on sleep parameters in some individuals. Notably, identified data were limited, old/poor quality, and heterogenous/inconsistent. Further research of GHD in pediatric populations is necessary to improve the understanding of GHD impact on sleep and its underlying mechanisms, and to determine the specific impacts of GH therapy on sleep in children

Vitamin D and Osteogenesis Imperfecta in Pediatrics

Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited skeletal dysplasias characterized by bone fragility. The study of bone metabolism, in these disease, is problematic in terms of clinical and genetic variability. The aims of our study were to evaluate the importance of Vitamin D levels in OI bone metabolism, reviewing studies performed on this topic and providing advice reflecting our experience using vitamin D supplementation. A comprehensive review on all English-language articles was conducted in order to analyze the influence of vitamin D in OI bone metabolism in pediatric patients. Reviewing the studies, contradictory data were found on the relationship between 25OH vitamin D levels and bone parameters in OI, and in several studies the baseline levels of 25OH D were below the threshold value of 75 nmol/L. In conclusion, according to the literature and to our experience, we highlight the importance of adequate vitamin D supplementation in children with OI

The influence of growth hormone on pediatric body composition: A systematic review

Background: Growth hormone (GH) affects metabolism and regulates growth in childhood. The most prominent feature of GH deficiency (GHD) in children is diminished height velocity that eventually leads to short stature. In adult-onset GHD, lean body mass (LBM) is reduced, and visceral fat mass (FM) increased. Beneficial effects of GH treatment on body composition in adults with GHD, including an increase in muscle mass and a decrease in FM, are well established. Relatively few studies have investigated the effects of GH treatment on the body composition of pediatric patients with idiopathic or hypothalamic-pituitary disease-associated GH deficiency. This systematic review aimed to summarize available evidence relating to the effects of GH treatment on body composition in children with GHD. Methods: The PubMed, Science Direct, Cochrane Trials, and Embase databases, were searched with keywords including "GH", "body composition", "children", and "growth hormone" for English-language articles, published between January 1999 and March 2021. Two reviewers independently evaluated the search results and identified studies for inclusion based on the following criteria: participants had a confirmed diagnosis of GHD (as defined in each study); participants were pediatric patients who were receiving GH or had stopped GH treatment, regardless of whether they were pre- or post-pubertal; the intervention was recombinant human GH (rhGH; somatropin); and outcomes included changes in body composition during or after stopping GH therapy. Data extracted from each study included study quality, study sample characteristics, study interventions, and body composition. Data on fat-free mass and LBM were combined into a single category of LBM. Results: Sixteen studies reporting changes in body composition (i.e., FM and LBM) associated with GH treatment in children with GHD were identified and included in the review. Collectively, these studies demonstrated that FM decreased, and LBM increased in response to GH replacement therapy. Conclusion: Despite study limitations (i.e., potential effects of diet and physical activity were not considered), we concluded that a periodic body composition assessment is required to ensure that a satisfactory body composition is achieved during GH replacement therapy in children with GHD

Osteomielite crônica como uma armadilha ao diagnóstico na prática do dermatologista

In the clinical practice of Dermatology, it is not uncommon to encounter challenging situations that are difficult to characterize and may lead to misdiagnosis. Skin conditions with similar presentations are included here and, in this case, it is of utmost importance that the dermatologist combines information from the medical history,physical examination and complementary tests in order to exclude conditions with worse prognosis and that require more aggressive action than other benign conditions and/or with less negative impact.Na prática clínica da dermatologia não é incomum nos depararmos com situações desafiadoras, de difícil caracterização e que podem nos induzir ao erro diagnóstico. Quadros cutâneos com apresentações semelhantes entre si estão aqui inclusas e, neste caso, é de suma importância a atuação do médico dermatologista de forma a unir as informações da anamnese, exame físico e exames complementares, a fim de excluir condições de pior prognóstico e que requerem atuação mais agressiva de outras condições benignas e/ou com menor impacto negativo. Apresentamos abaixo uma dessas situações de desafio diagnóstico em que uma lesão cutânea secundária à osteomielite crônica foi inicialmente atribuída à causa inflamatória ou neoplásica

Síndrome de Graham-Little-Piccardi-Lassueur: relato de caso

Graham-Little-Piccardi-Lassueur syndrome is a rare variant of lichen planus pillar of unknown etiology. It is characterized by progressive scarring alopecia of the scalp, non-scarring alopecia of the axilla and pubis, and follicular lichenoid eruption. We report a classic case of a 74-year-old female patient with hair thinning in the right frontotemporal region, axillary and genital hypotrichosis and keratosis pilaris in the lumbar region and flanks.A Síndrome de Graham-Little-Piccardi-Lassueur é uma variante rara do líquen plano pilar cuja etiologia é desconhecida. É caracterizada pela tríade alopécia cicatricial progressiva de couro cabeludo, alopécia não cicatricial de axilas e púbis e erupção liquenóide folicular. Relatamos caso de paciente feminina de 74 anos com quadro clássico de rarefação pilosa em região frontotemporal direita, hipotricose axilar e genital e queratose pilar em região lombar e flancos