Cyber social proof and hazard: Investigating the impact of social media on pediatric burn incidents - Analysis and comprehensive literature review.

Investigating the growing concern of pediatric burn injuries caused by social media challenges. Adolescents, seeking fame or succumbing to peer pressure, engage in risky behaviors, recording and sharing them online. The study presents two case reports detailing severe burn injuries resulting from such challenges, highlighting the physical and psychological toll on affected children and their families. In Case report 1, a 14-year-old suffered severe burns attempting a TikTok challenge involving igniting a soaked t-shirt. The patient's critical condition necessitated intensive care, surgical procedures, and skin grafts, accompanied by complications like anemia and sepsis. Case report 2 features a 9-year-old who sustained extensive burns while attempting another social media challenge. Treatment included escharolysis, skin grafts, and surgeries, with complications managed during the recovery process. A literature review explores social media-generated burn injuries, revealing their physical and psychological impact. The influence of social proof and peer pressure on adolescents' behavior in the digital age is discussed. The pandemic's effect on mental health is considered, emphasizing the vulnerability of adolescents to such challenges. In conclusion, the paper highlights the rising incidence of teen burn injuries linked to social media challenges. Urgent measures are needed to restrict the promotion of risky behaviors on social platforms. Alongside state-of-the-art burn treatments, comprehensive psychological care is essential for young patients and their families to cope with trauma. Increased content monitoring and the dissemination of prevention materials are recommended to mitigate the occurrence of such incidents.

Multi-campaign ship and aircraft observations of marine cloud condensation nuclei and droplet concentrations.

In-situ marine cloud droplet number concentrations (CDNCs), cloud condensation nuclei (CCN), and CCN proxies, based on particle sizes and optical properties, are accumulated from seven field campaigns: ACTIVATE; NAAMES; CAMP2EX; ORACLES; SOCRATES; MARCUS; and CAPRICORN2. Each campaign involves aircraft measurements, ship-based measurements, or both. Measurements collected over the North and Central Atlantic, Indo-Pacific, and Southern Oceans, represent a range of clean to polluted conditions in various climate regimes. With the extensive range of environmental conditions sampled, this data collection is ideal for testing satellite remote detection methods of CDNC and CCN in marine environments. Remote measurement methods are vital to expanding the available data in these difficult-to-reach regions of the Earth and improving our understanding of aerosol-cloud interactions. The data collection includes particle composition and continental tracers to identify potential contributing CCN sources. Several of these campaigns include High Spectral Resolution Lidar (HSRL) and polarimetric imaging measurements and retrievals that will be the basis for the next generation of space-based remote sensors and, thus, can be utilized as satellite surrogates.

Imprinted Gene Expression and Function of the Dopa Decarboxylase Gene in the Developing Heart.

Dopa decarboxylase (DDC) synthesizes serotonin in the developing mouse heart where it is encoded by Ddc_exon1a, a tissue-specific paternally expressed imprinted gene. Ddc_exon1a shares an imprinting control region (ICR) with the imprinted, maternally expressed (outside of the central nervous system) Grb10 gene on mouse chromosome 11, but little else is known about the tissue-specific imprinted expression of Ddc_exon1a. Fluorescent immunostaining localizes DDC to the developing myocardium in the pre-natal mouse heart, in a region susceptible to abnormal development and implicated in congenital heart defects in human. Ddc_exon1a and Grb10 are not co-expressed in heart nor in brain where Grb10 is also paternally expressed, despite sharing an ICR, indicating they are mechanistically linked by their shared ICR but not by Grb10 gene expression. Evidence from a Ddc_exon1a gene knockout mouse model suggests that it mediates the growth of the developing myocardium and a thinning of the myocardium is observed in a small number of mutant mice examined, with changes in gene expression detected by microarray analysis. Comparative studies in the human developing heart reveal a paternal expression bias with polymorphic imprinting patterns between individual human hearts at DDC_EXON1a, a finding consistent with other imprinted genes in human.

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.

Osteocytes are master regulators of the skeleton. We mapped the transcriptome of osteocytes from different skeletal sites, across age and sexes in mice to reveal genes and molecular programs that control this complex cellular-network. We define an osteocyte transcriptome signature of 1239 genes that distinguishes osteocytes from other cells. 77% have no previously known role in the skeleton and are enriched for genes regulating neuronal network formation, suggesting this programme is important in osteocyte communication. We evaluated 19 skeletal parameters in 733 knockout mouse lines and reveal 26 osteocyte transcriptome signature genes that control bone structure and function. We showed osteocyte transcriptome signature genes are enriched for human orthologs that cause monogenic skeletal disorders (P = 2.4 × 10-22) and are associated with the polygenic diseases osteoporosis (P = 1.8 × 10-13) and osteoarthritis (P = 1.6 × 10-7). Thus, we reveal the molecular landscape that regulates osteocyte network formation and function and establish the importance of osteocytes in human skeletal disease.

Aerosol generation related to respiratory interventions and the effectiveness of a personal ventilation hood.

OBJECTIVE: To quantify aerosol generation from respiratory interventions and the effectiveness of their removal by a personal ventilation hood. DESIGN AND SETTING: Determination of the aerosol particle generation (in a single, healthy volunteer in a clean room) associated with breathing, speaking, wet coughing, oxygen (O2) 15 L/min via face mask, O2 60 L/min via nasal prongs, bilevel non-invasive positive-pressure ventilation (BiPAP) and nebulisation with O2 10 L/min. INTERVENTIONS: Aerosol generation was measured with two particle sizer and counter devices, focusing on aerosols 0.5-5 µm (human-generated aerosols), with and without the hood. An increase from baseline of less than 0.3 particles per mL was considered a low level of generation. MAIN OUTCOME MEASURES: Comparisons of aerosol generation between different respiratory interventions. Effectiveness of aerosol reduction by a personal ventilation hood. RESULTS: Results for the 0.5-5 µm aerosol range. Quiet breathing and talking demonstrated very low increase in aerosols (< 0.1 particles/mL). Aerosol generation was low for wet coughing (0.1 particles/mL), O2 15 L/min via face mask (0.18 particles/mL), and high flow nasal O2 60 L/min (0.24 particles/mL). Non-invasive ventilation generated moderate aerosols (29.7 particles/mL) and nebulisation very high aerosols (1086 particles/mL); the personal ventilation hood reduced the aerosol counts by 98% to 0.5 particles/mL and 8.9 particles/mL respectively. CONCLUSIONS: In this human volunteer study, the administration of O2 15 L/min by face mask and 60 L/min nasal therapy did not increase aerosol generation beyond low levels. Non-invasive ventilation caused moderate aerosol generation and nebulisation therapy very high aerosol generation. The personal ventilation hood reduced the aerosol counts by at least 98%.

Characterization of aerosols over the Great Barrier Reef: The influence of transported continental sources.

The rapid environmental changes in Australia prompt a more thorough investigation of the influence of transportation, local emissions, and optical-chemical properties on aerosol production across the region. A month-long intensive measurement campaign was conducted during spring 2016 at Mission Beach, a remote coastal site west of the Great Barrier Reef (GBR) on the north-east coast of Australia. One aerosol pollution episode was investigated in early October. This event was governed by meteorological conditions and characterized by the increase in black carbon (BC) mass concentration (averaged value of 0.35 ±â€¯0.20 µg m-3). Under the influence of the continental transportation, a new layer of nucleation-mode aerosols with an initial size diameter of 20 nm was observed and aerosol number concentrations reached the peak of 6733 cm-3 at a diameter of 29 nm. The averaged aerosol extinction coefficient at the height of 2 km was 150 Mm-1, with a small depolarized ratio (3.5-5%). Simultaneously, the boundary layer height presented a fall-rise trend in the presence of these enhanced aerosol concentrations and became stable in a later stage of the episode. We did not observe clear boundary layer height diurnal variations from the LiDAR observations or from the Weather Research and Forecasting (WRF) model outputs, except in an earlier stage of the aerosol episode for the former. Although the sea breeze may have been responsible for these particles, on the balance of available data, we suggest that the aerosol properties at the GBR surface during this period are more likely influenced by regional transportation of continental sources, including biomass-burning aerosols.

Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below.

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

BACKGROUND: Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH2 receptor. This pathway is involved in the coupled processes of bone formation and resorption. The skeletal features of HCS include acro-osteolysis of the digits and osteoporosis commonly affecting vertebrae and long bones. Fractures are a prominent feature and are associated with significant morbidity. There is no specific treatment, but with both acro-osteolysis and generalized osteoporosis, it is possible that anti-resorptive treatment might be of benefit. However, to date only a few case reports have evaluated the effectiveness of bisphosphonate treatment. METHODS: We describe the clinical features, treatment regimens and response to bisphosphonate treatment in 7 newly described patients aged 6-39 with HCS, and pooled the data with that from 8 previously published cases (a total of 17 courses of treatment in 15 individuals). RESULTS: The mean lumbar spine bone mineral density (BMD) z-score before treatment was - 2.9 (SD 1.2). In 14 courses of treatment (82%), there was an increase in BMD with bisphosphonate treatment, but the impact (in terms of change in spinal BMD z-score) appeared to be less with advancing age (p = 0.01). There was no evidence that acro-osteolysis was prevented. CONCLUSIONS: Although individual response is variable and age-related, the data support a role for bisphosphonates in preventing or treating spinal osteoporosis in HCS, but bone loss from the lumbar spine may be rapid after cessation.

Comment on: "A case report of a complete degloving injury of the penile skin".

INTRODUCTION: We recently published an article in the International Journal of Surgical Case Reports titled: "Scrotal dartos-fascio-myo-cutaneous flap for penis elongation after catastrophic iatrogenic skin shaft sub-amputation: A case of recovery using an extremely adaptable flap". PRESENTATION OF CASE: We propose a comment on a recent article titled "A case report of a complete degloving injury of the penile skin" by Helena Aineskog and Frederik Huss that we read with great interest. DISCUSSION: Genitalia are linked to self-esteem and male sexual identity, especially among young men, who sometimes require a surgical procedure to acquire more confidence. Various techniques are available for pe-nile skin covering, such as skin grafts or cutaneous flaps. The skin of the scrotum seems to be the most suitable tissue to be used to reconstruct the skin covering of the shaft as it is the most similar. CONCLUSION: Scrotal flap is a single stage procedure that is easy and safe to perform.

Scrotal dartos-fascio-myo-cutaneous flaps for penis elongation after catastrophic iatrogenic skin shaft sub-amputation: A case of recovery using an extremely adaptable flap.

INTRODUCTION: Genitalia are linked to self-esteem and male sexual identity, especially among young men, who sometimes require a surgical procedure to acquire more confidence. Among the surgical procedures requested for aesthetical purposes, circumcision is one of the most popular. Although it can be considered to be a simple surgical practice, it may cause severe complications such as penile skin necrosis. PRESENTATION OF CASE: We report a case of a catastrophic situation after a circumcision performed on a 27-year-old HIV positive man resulted in a drastic reduction in the length of the penile shaft due to extensive skin loss; this was subsequently restored using dartos-fascio-myo-cutaneous flaps. Primary healing occurred in 10days. No infection, dehiscence or flap ischemia were reported. Donor site morbidity was minimal. An adequate aesthetical appearance and satisfactory functional results were obtained. DISCUSSION AND CONCLUSION: Various techniques are available for penile skin covering, such as skin grafts or cutaneous flaps. The skin of the scrotum seems to be the most suitable tissue to be used to reconstruct the skin covering of the shaft as it is the most similar. Dartos-fascio-myo-cutaneous flap is a single stage procedure that is easy and safe to perform. It can provide satisfactory cosmetic and functional results, offering a large amount of tissue, with minimal donor site morbidity.

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, cleft palate, microtia, and abnormal pulmonary function. First reported in three siblings it was assumed to be an autosomal recessive condition. However, subsequent publication reported a further five simplex occurrences and a living patient with a heterozygous mutation in the SF3B4 gene. Exome sequencing was performed on four fetuses with this disorder, including one of the originally described affected siblings. We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. © 2016 Wiley Periodicals, Inc.

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.

Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic kidneys with associated vesicoureteral reflux. Renal function has been impaired since birth and deteriorated progressively to end-stage renal disease (ESRD) by the age of two and a half years, when peritoneal dialysis was initiated and only recently renal transplantation was performed. Additional congenital abnormalities and multisystem involvement in HJCYS further complicated management, and he developed refractory anemia. Molecular diagnosis was confirmed by identification of a truncating mutation in exon 34 of NOTCH2. Although, renal abnormalities are considered an integral part of the HJCYS, published reports on ESRD are scarce. In those few published cases, where ESRD was recognized, renal failure developed either in late adolescence or adulthood. This is the first report of early ESRD occurring in a child. Patients with HJCYS may need chronic renal replacement therapy even in early childhood. The management of these children can be challenging given the multisystemic manifestations of HJCYS.

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.

Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of copy number variants (CNVs) of unclear prognosis that cause parental anxiety. Methods. All prenatal samples fulfilling our criteria for karyotype analysis (n = 342) were tested by chromosomal microarray and only CNVs of established deletion/duplication syndrome regions and any other CNV >3 Mb were detected and reported. A retrospective full-resolution analysis of 249 of these samples was carried out to ascertain the performance of this testing strategy. Results. Using our prenatal analysis, 23/342 (6.7%) samples were found to be abnormal. Of the remaining samples, 249 were anonymized and reanalyzed at full-resolution; a further 46 CNVs were detected in 44 of these cases (17.7%). None of these additional CNVs were of clear clinical significance. Conclusion. This prenatal chromosomal microarray strategy detected all CNVs of clear prognostic value and did not miss any CNVs of clear clinical significance. This strategy avoided both the problems associated with interpreting CNVs of uncertain prognosis and the parental anxiety that are a result of such findings.

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles syndrome (MNS; MIM309350) and Hajdu-Cheney Syndrome (HCS; MIM102500). Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. With the recent discovery that HCS is caused by mutations in NOTCH2, DNA from the both cases was examined and both were found to have truncating mutations in exon 34 of NOTCH2. The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.

Uniparental disomy (UPD) for chromosome 14 is associated with well-recognized phenotypes, depending on the parent of origin. Studies in mouse models and human patients have implicated the involvement of the distal region of the long arm of chromosome 14 in the distinctive phenotypes. This involvement is supported by the identification of an imprinting cluster at chromosome 14q32, encompassing the differentially methylated regions (DMRs), IG-DMR and MEG3-DMR, as well as the maternally expressed genes GTL2, DIO3, and RTL1 and the paternally expressed genes DLK1, RTL1as, and MEG8. Here we report on a preterm female infant with distal segmental paternal UPD14 (upd(14)pat) of 14q32-14q32.33, which resulted in thoracic deformity secondary to rib abnormalities ("coat-hanger" rib sign), polyhydramnios, and other congenital abnormalities characteristically described in cases of complete upd(14)pat. Microsatellite investigation demonstrated UPD of markers D14S250 and D14S1010, encompassing a approximately 3.5 Mb region of distal 14q and involving the imprinting cluster. This case provided insight into the etiology of the phenotypic effects of upd(14)pat, prompting methylation analysis of the GTL2 promoter and the DMR between GTL2 and DLK1. We compare the physical findings seen in this case with those of patients with other causes of abnormal methylation of 14q32, which consistently result in certain distinct clinical features, regardless of the cytogenetic and molecular etiology.

Chondrodysplasia punctata: a clinical diagnostic and radiological review.

Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.

Contribution of first- versus second-generation products to secondary organic aerosols formed in the oxidation of biogenic hydrocarbons.

Biogenic hydrocarbons emitted by vegetation are important contributors to secondary organic aerosol (SOA), but the aerosol formation mechanisms are incompletely understood. In this study, the formation of aerosols and gas-phase products from the ozonolysis and photooxidation of a series of biogenic hydrocarbons (isoprene, 8 monoterpenes, 4 sesquiterpenes, and 3 oxygenated terpenes) are examined. By comparing aerosol growth (measured by Differential Mobility Analyzers, DMAs) and gas-phase concentrations (monitored by a Proton Transfer Reaction Mass Spectrometer, PTR-MS), we study the general mechanisms of SOA formation. Aerosol growth data are presented in terms of a "growth curve", a plot of aerosol mass formed versus the amount of hydrocarbon reacted. From the shapes of the growth curves, it is found that all the hydrocarbons studied can be classified into two groups based entirely on the number of double bonds of the hydrocarbon, regardless of the reaction systems (ozonolysis or photooxidation) and the types of hydrocarbons studied: compounds with only one double bond and compounds with more than one double bond. For compounds with only one double bond, the first oxidation step is rate-limiting, and aerosols are formed mainly from low volatility first-generation oxidation products; whereas for compounds with more than one double bond, the second oxidation step may also be rate-limiting and second-generation products contribute substantially to SOA growth. This behavior is characterized by a vertical section in the growth curve, in which continued aerosol growth is observed even after all the parent hydrocarbon is consumed.

Effect of a cancer chemotherapy prescription form on prescription completeness.

Completeness of physicians' orders for cancer chemotherapy was compared before and after implementation of a preprinted form for these orders. When an oncology pharmacy service (OPS) in which pharmacy prepared all drugs for cancer chemotherapy was implemented in 1985 at an 879-bed teaching hospital, the pharmacists began educational sessions for house-staff physicians on writing orders for cancer chemotherapy. Pharmacists assessed the effectiveness of these sessions by comparing completeness of orders written before implementation of the OPS with orders during a four-week period starting two months after implementation. Orders were checked for nine components: patient's diagnosis, height, weight, and body surface area and drug regimen, dose, dosage, frequency, and route. Inclusion of the same components was assessed after implementation of a form that physicians were required to use for prescribing all antineoplastic agents. During the baseline period, orders for 143 patients were evaluated. Only two prescription components, dose and route, were present is more than 90% of the orders. Educational intervention led to some improvement in order completeness, but only dose and route appeared in at least 90% of the 87 orders evaluated. The components necessary to verify physicians' calculations for body surface area and dose--height, weight, and dosage--were absent in 29 of the orders, and a pharmacist spent 420 minutes clarifying them. After the order form was implemented, orders for 77 patients were reviewed. Compliance exceeded 90% for eight of the nine components, and 12 medication errors were prevented by the form. A pharmacist spent 70 minutes clarifying five orders.(ABSTRACT TRUNCATED AT 250 WORDS)