Abstract Background: CAH is a common genetic disorder usually diagnosed in early childhood. However, when it is detected in adulthood, different approach and treatment strategies need to be undergone as their needs are generally different from those of children with CAH. Case presentation: A 49-year-old male with a past medical history of recurrent urinary tract infections was admitted to the hospital with sepsis and was treated with antibiotics. CT abdomen during admission showed an incidental finding of markedly enlarged bilateral adrenal hyperplasia with an 8x5.5x5.8 cm left adrenal mass, as well as two ovaries and a uterus. Upon further history, the patient said he knew that he was born with abnormal genitalia and had a prolonged stay in the hospital immediately after birth and had surgery of his genitals at the age of six months. He was always told by his family that he is a female, although he never felt it, and he continued to identify himself as a male throughout his life. He only had one menstrual period at the age of thirteen. He participates in sexual activities as a male but was never able to have a normal sex life. He also gave a history of salt cravings, where he consumes dry salt. He was not taking any home medications. On examination, the patient had a male voice, a beard, male body hair distribution, no breast. The genital exam revealed labia majora, no labia minora. The rest of his examination was unremarkable. Work up for CAH revealed normal range plasma metanephrines and DHEA. But ACTH, androstenedione, 17-OH progesterone were all elevated (90.4 pg/ml, 2737 ng/dl, and 24191 ng/dl respectively) and levels were all higher after Cosyntropin stimulation test. He was found to have primary adrenal insufficiency with a maximum cortisol level of 13.3 mcg/dl after the stimulation test. He was started on oral Hydrocortisone and was closely followed by endocrine after discharge where long-term treatment plans were discussed and our patient decided that he wants to continue his life as a male, and was evaluated by Urology as well as OBGYN for left adrenalectomy and hysterectomy with bilateral Salpingo-Oophorectomy that was successfully performed a month later. Pathology of his left adrenals showed adrenocortical hyperplasia without evidence of malignancy. Patient was educated about lifelong corticosteroid treatment and that he would need to start testosterone replacement therapy to keep his male characteristics. Conclusion: When children with CAH lose follow up and don’t receive treatment early in life, they can develop gender dysphoria, and their approach as adults become more challenging and it needs a multidisciplinary team to treat, address their needs and detect complications of prolonged adrenal stimulation. Additional research to the natural history and optimal interventions is needed to improve outcomes as these cases are not encountered frequently in clinical practice.
Objectives Providing psychosocial support to pediatric patients and their families at the end of life represents one of the most challenging yet vital aspects of healthcare practice. Despite the presence of grief and loss training in many pediatric healthcare professionals' educational backgrounds, opportunities for practical training experience in delivering end-of-life care remain limited. This study explored the use of simulation-based training to enhance the self-reported knowledge, skills, and comfort levels of child life specialists in providing psychosocial care during end-of-life situations. Methods Forty-three child life specialists participated in the simulation-based training, which was combined with traditional didactic instruction, and the associated research study. Pre- and post-training surveys were used to assess impact of the training on child life specialists' self-reported knowledge of end-of-life care and comfort in providing this care. Results A statistically significant increase was seen in all measured aspects of self-reported knowledge and comfort in providing end-of-life care following the training. Significance of results Simulation combined with traditional instruction methods provides an effective way to train healthcare professionals in providing high-stakes psychosocial care while protecting patients and families from the added strain of trainees and excess staff presence during sensitive times.
ImportanceFeeding difficulties are highly prevalent among children diagnosed with autism and can significantly affect family well-being. Parental mealtime practices play a critical role in shaping children's eating behaviors, yet their interaction in children diagnosed with autism remains insufficiently understood.ObjectiveTo examine the associations between children's feeding behaviors and parental mealtime practices in children diagnosed with autism and to compare these practices with those of typically developing (TD) children.DesignCross-sectional comparative study.SettingPediatric clinic.ParticipantsA total of 187 parents of children aged 2-7 years participated (97 children diagnosed with autism, 90 TD).Outcomes and MeasuresAutism traits were assessed using the Childhood Autism Rating Scale, feeding behaviors using the Brief Autism Mealtime Behavior Inventory, and parental mealtime practices using the Parent Mealtime Action Scale (PMAS).ResultsCaregivers of children diagnosed with autism reported significantly different mealtime practices compared with caregivers of TD children. After controlling for child age and BMI, significant group differences were observed for the PMAS subscales Positive Persuasion (p < .001), Daily Fruit and Vegetable Availability (p < .001), and Special Meals (p < .001). Higher levels of autistic traits were associated with greater food refusal (r = 0.42, p < .001), autism-related mealtime behaviors (r = 0.30, p = .003), and greater caregiver use of Special Meals (r = 0.38, p < .001).Conclusions and RelevanceAutism traits are associated with feeding difficulties, and parental practices differ between children diagnosed with autism and TD groups. Understanding these relationships is essential for developing family-centered, occupation-based interventions to improve mealtime participation.
Abstract Brain tumors are now responsible for more deaths each year than any other childhood cancer. Current studies aim to discover key molecular drivers that can explain prognosis and serve as targets for new therapeutic approaches, reducing morbidity. In this study, we performed LC-MS/MS proteomics on a cohort of 28 primary diffuse astrocytoma formalin-fixed paraffin embedded samples (WHO Grades II-IV) from patients at Nationwide Children’s Hospital with a median follow-up time of 2.3 (0.6–20.2) years. Ingenuity Pathway Analysis was used to analyze the proteomic data after using both age and grade as covariates and only including proteins with p-values less than 0.05. The upregulation of a well-known oncogenic pathway, the Protein Kinase A signaling pathway, was significantly associated with greater risk of progression and death (P=5.5E-07 and P=4.6E-04). Integrin signaling, a pathway commonly suppressed in cancer, was similarly downregulated in those with greater risk of progression and death (P=3.3E-04 and P=1.7E-07). A global upstream analysis of the proteomic data also predicted activation of the oncogene MYCN in those who performed poorly, supporting previous studies. When comparing grade II (n=10) to grade III (n=8) and IV (n=10) primary tumors, the pathway most upregulated in higher histopathological grades was EIF2 Signaling (P=4.9E-49). This pathway has previously been associated with resistance in adult glioblastoma. These pathways, and the proteins detected within, may provide novel means by which to better understand and treat pediatric diffuse gliomas. Ongoing studies are in progress to understand how these pathways drive aggressiveness and differ from adult astrocytomas.
Introduction Parenting with mental illness is associated with parenting difficulties and increased mental health problems in children. Family focused interventions improve child outcomes by 40%. However, such services are not available at present in Sri Lanka. Objectives To assess the challenges faced and perceived needs of parents with mental illness in Sri Lanka. Methods A cross sectional descriptive study was carried out in the adult psychiatry follow-up clinics in a Teaching Hospital in Sri Lanka. A specifically designed questionnaire was used to collect socio-demographic details, difficulties with parenting and perceived care needs. Results Of 385 parents, 67.3% believed their mental illness impacted their parenting. Perceived impact on parenting was higher in younger parents (p<0.01), when the children were younger (p<0.01), had more children under 5 years (p<0.01) and when there was no social support (p<0.01). 67.8% of parents believed their illness impacted their children, with higher impact perceived in parents with children less than 5 years of age (p<0.05) and those with no social support (p<0.01). Although 36.4% had concerns about their children’s emotions or behaviour, only 16.4% were willing to discuss these with their doctor. The parental concerns were significantly higher where the parent was employed (p<0.01), had a longer duration of illness (p<0.01) and when the youngest child was more than 12 years (p<0.01) Conclusions Mental illness in parents had a substantial impact on parenting and their children but professionals help was rarely sought. Services aimed at the specific needs of these parents should be developed. Disclosure No significant relationships.
Introduction The prevalence of childhood overweight and obesity has increased substantially in recent decades. Physical activity is a key component in improving metabolic and overall health in children with obesity. The Swedish Physical Activity on Prescription (PAP) is an established method for promoting physical activity, yet knowledge regarding its applicability and acceptability in paediatric populations is scarce. This study explored children's and parents' experiences of PAP, including perceived barriers, facilitators, and any changes in physical activity behaviour. Methods Twenty-two children and parents were purposively recruited from a previous intervention study at paediatric and rehabilitation clinics in Region Västra Götaland, Sweden. Semi-structured, in-depth interviews were conducted at locations chosen by participants, audio-recorded, and transcribed verbatim. Data were analysed using inductive qualitative content analysis, including coding, categorisation, and development of an overarching theme. Researcher triangulation was applied throughout the analytical process to strengthen credibility. Results The analysis resulted in the main theme Physical activity on prescription spanning healthcare and everyday life, supported by five categories, each with three to five sub-categories. The category The clinical encounter describes the overall experience of PAP as part of a larger whole; Finding "your thing" addresses activity selection as a process with several factors influencing the choice, and Fitting activities into everyday life concerns adoption of activities, engaging the family, and strategies to sustain activities. The category Motivation through monitoring and follow-up describes three different types of follow-up important for motivation: a digital diary, healthcare contacts, and wearing a accelerometer waistband. The last category, Changes beyond physical activity, captures experiences of development in both activity, behaviour, health and emotion. Discussion The findings suggest that children with obesity and their parents experience PAP as a supportive, person-centred, intervention extending across healthcare, everyday life, and organised sports. The intervention was perceived as combining conversational guidance with shared responsibility, with engagement facilitated by fun, tailored activities aligned with family routines, while financial and practical barriers could limit participation. Overall, the findings suggest that individually adapted, family-inclusive PAP is a feasible and acceptable strategy in Swedish paediatric obesity care, with potential broader benefits for children's health and well-being.
Abstract PURPOSE: To report our experience with different craniopharyngioma management strategies done for 246 patients in a single institution during a period of 14 years. METHODS: The medical records of all children with the diagnosis of craniopharyngioma treated at Children's Cancer Hospital Egypt (CCHE-57357) during the period from July 2007 to December 2021 were retrospectively reviewed. RESULTS : our registry included 246 pediatric craniopharyngiomawith median age of 7.4 years old. The main strategies of management after initial surgery were follow up, radiotherapy or administration of intracystic interferone post ommaya insertion. The number of cases in each group were 92, 147,and three respectively. Three patients were not operated upon because of heavily calcified lesions, two of them received radiotherapy while the third was kept under follow up. Overall gross or near total total excision was achieved in 31.2 % , subtotal resection was the case in 42.1% while Ommaya insertion and biopsy was done in 21.1 % of cases. Total number of patients received radiotherapy initially or on progression was 195 patients( 78.9%). The five-year overall survival was 88% (95% CI 82.9 – 93.1) while 5- year progression free survival (PFS) was 49.2% (95% CI 41.2—57.2). The five-year PFS rates for patients in the follow up group versus radiotherapy group were 25.2% and 68.7% respectively (P< 0.0001). Beta catenin was positive in 76.4% of cases that were available for testing (123/161). CONCLUSION: management of craniopharyngioma should be individualized with the main objective is the quality of life. Conservative surgery which entails gross total safe resection whenever possible or lesser extent of resection followed by radiotherapy is the main strategy followed in our institution.
The presence of numerous scientific contributions in the program is certainly demonstrative of the fact that research in the field of paleopathology and anthropology has not stopped since the beginning of Covid-19. Furthermore, the same emergency that we are still partially feeling, has pushed our community scientific research to question itself more intensely in connection to the epidemic relationship and measures that repeatedly led to profound transformations in the societies of the past from different points of view: demographic, economic, social and the history buried under the bioarchaeological strata is today more capable than ever to show this connection. It can do this by bringing to light the paleodemographic data that is obtained from the study of human remains. Today we will listen to many paleopathological stories and among these I am very happy to also present ours. Twenty years ago, the University of Insubria started a collaboration with the Archaeological Superintendence of Lombardy for the study of osteological remains found mostly during emergency archaeology recoveries. These experiences led us to reach those bioarchaeological sites again with the aim of extracting all those cemetery layers that remained there because they were not subjected at that time by building reclamation interventions. Returning to those sites that in the past brought to light fragmentary anthropological data means allowing oneself the possibility of obtaining new palaeodemographic and palaeopathological data which are decisive for reconstructing the demographic and epidemiological history of the populations of the past. These new interventions led us to create an operational model that immediately intended to underline the importance of an evident continuity between the archaeological recovery and the anthropological study of the finds through the setting up of physical anthropology and paleopathology laboratories directly on the sites of the finds. All this in harmony with the final design of the projects or the museumization of bioarchaeological sites in their complexity aimed at enhancing cultural tourist routes in the area. In this regard, I would like to thank the community foundation of Varese and the Cariplo foundation for supporting our current initiatives. These include the project financed by the emblematic provincial tender and which has as its final objective the enhancement of three bioarchaeological sites in Valcuvia: the medieval sites of San Biagio in Cittiglio, Sant’Agostino in Caravate, and the modern crypt of the church of the Convent of Azzio. Today, our Research Centre works in Piedmont in different sites in the province of Vercelli and Alessandria. Aware of the importance of a physical anthropological approach in the field, our young Centre goes beyond the continental borders to reach Eritrea, the ancient city of Adulis, because it is in dissecting the taphonomic events and the funeral actions that will make it possible to identify the funerary ritual adopted by the ancient populations. The operational model of paleopathological research, which gradually enriches itself thanks to the multidisciplinary nature of the interventions and thanks to the individual experiences in the field, is thus continuously transferred and adapted to other anthropological contexts that retain potential both in terms of investigative and enhancement of the bioarchaeological heritage. Through the musealization of the sites it is also possible to acquire an attractive force towards all those potentially bioarchaeological areas but which today are in conditions of neglect because they are marginal with respect to the conventionally understood cultural tourist good. And we all know how important it is to transfer the study data even outside the academic context because making this aspect of archaeology, the truly human one, usable too, cannot fail to arouse a strong awareness of our past. We also know how much more we will have to work, following in the footsteps of the professors who started this path, to ensure that the disciplines of paleopathology and physical anthropology arrive within all those degree courses still discovered today by these teachings to heal an important lack: knowing the human past from a physical and pathological point of view allows us to understand the evolutionary path of some pathologies, especially those of infectious nature. If my title of the speech “Paleopathology and osteoarchaeology in the province of Varese” does not respond to what is being said today, it is because my feeling about paleopathology and osteoarchaeology in the province of Varese is understood as that of carrying out research, what I could feel everywhere, through the operational model, the enthusiasm for paleopathological research and of course the people I am lucky enough to work with. Studying the relics of saints and blesseds has sometimes made it possible to discover aspects of their lives that are not documented in historical and literary sources. In some cases, it has also allowed research data to be compared with legends. The authors illustrate the case study of Blessed Egidio da Laurenzana. In 1917, on the occasion of the celebrations marking the 500th anniversary of the death of Blessed Egidio da Laurenzana (1443-1515), the reliquary containing his remains was opened for examination and to allow their state of conservation to be assessed. Bernardino di Bello (this was his secular name) entered the local Franciscan monastery when he was 30 years old. His saintly vocation was immediately clear as he had a marked sense of ascetic and contemplative spirituality, and naturally embraced a life punctuated by ecstasy and prayer. However, according to legend, as well as the accounts of his brothers in the order, he was also plagued by the continuous presence of the devil, who would physically attack him as he prayed at night. The last of these terrible attacks took place in church on Christmas night 1517, when the devil breathed fire on him, burning his left hand, and poured boiling lamp oil over him. He sustained terrible burns, and despite the attentive care of a noblewoman named Donna Lucrezia Trara, a procurator for the friars, who dressed his wounds, he died on January 10th, 1518 after experiencing great suffering. Egidio immediately became a figure of worship in Laurenzana, a small Italian town in the Province of Potenza. His beatification was confirmed in 1880. The examination of the mummy, by the Anthropology Unit of the G. d’Annunzio di Chieti University of Pescara, revealed that its condition had deteriorated since its previous inspection in 1940. Therefore, before the restoration work could begin, various procedures, including microscopic, microanalytical and radiological studies, had to be carried out. These analyses provided some interesting clues about the blessed’s general state of health (stones, arthritis, cleft lip), but above all regarding the causes of his death. Macroscopically, burn marks were found on the bones of the left shoulder girdle, the base of the skull and the anterior aspect of the bodies of the first thoracic vertebrae. The radiological studies revealed signs of bone necrosis on the left scapula, in the form of hypodense subcircular-shaped areas at whose periphery there were found micro-areas of thickening around areas of necrosis. Finally, scanning electron microscopy and microanalytical analyses of ectopic lamellar bone present on the scapula revealed the presence, on one of its surfaces, of tightly woven textile fibres containing traces of aluminum and copper; the appearance of the other surface was similar to that of skin. The micromorphological characteristics support the hypothesis that these fibers may be the remains of a dressing. Overall, the results of the analyses indicate that he suffered very serious burns, compatible with third degree lesions, which were treated with bandages impregnated with a therapeutic ointment. The extent and severity of the lesions were such that Blessed Egidio died two weeks after sustaining them. The medieval deserted village of Geridu, near Sorso, in the North of Sardinia, is mentioned in historical sources since the XIIth century and reached its maximum development during the XIVth century, when its population was about 1500 people. The village had been deserted before 1427, as the sources suggest, for several reasons, such as fiscal pressure, wars and pestilence. The village’s cemetery, near the church of Saint Andrews, was excavated in 1997-1998. The archaeologists dug 26 burials and discovered an hypogeic structure, most ancient, used in XIVth century as an ossuary. More than 90 cm of human remains were found, including some portions of skeletons in anatomical connection in the most ancient part of the ossuary. Therefore, archaeologists hypothesized the use of the structure also as a primary burial place for some individuals, especially for non-adults. In fact, the high presence of all subadult bones, found in the most ancient part of the ossuary, can suggest that some children were buried directly in the ossuary. Based on pottery found in ossuary’s obliteration the structure was closed definitively in the XVth century. The aim of the anthropological study was to determine the bioarchaeology of Geridu from the commingled bones from the ossuary. The osteological study focused on adults remains from the most recent part of the ossuary, separated from the first period of use by a layer of lime, and on several portion in connection found in the US 2812, the most ancient stratigraphical unit. Therefore, 180 commingled bones and 36 parts of individuals in connection has been analyzed. The paleopathological aspect seems to be very interesting; it confirms the results of individuals’ study from the cemetery burials, in addition to providing new data. The sample contained two cases of DISH, Diffuse Idiopatic Skeletal Hyperostosis, already found in Geridu, several bones affected by infectious diseases, such as a femur with pathological traces of osteomyelitis and a tibia with a probable case of Sclerosing osteomyelitis of Garré. Furthermore, a probable case of Osteosarcoma has been found, is an adult femur with extensive lithic lesions that have completely altered the proximal bone profile. For a better diagnosis the bones with traces of pathological lesions were analyzed with XR and Spiral CT scan by a team of Radiology from the University Hospital (A.O.U.) of Sassari. Despite the impossibility to complete a differential analysis, due to the absence of the rest of the skeleton, the hypotheses advanced seem to be confirmed by a CT scan. The study, even if incomplete, shows that important information can also be obtained from contexts such as ossuaries, which give a general picture on the state of health of past populations.
Background Developmental delay refers to children who experience significant variation in the achievement of expected milestones for their actual or adjusted age. Delays may occur in the areas of motor function, speech and language, cognitive, play, and social skills. Caregivers of these children feel stressed and limit their participation in society. This study was designed to assess the parental stress experienced by caregivers, their social participation, and the coping strategies they adopt. Methodology An observational study was carried out on 100 caregivers of children with developmental delay who were enrolled in a rural rehabilitation center. Caregivers were interviewed and assessed for stress, coping strategies, and social participation using specific questionnaires. Results and conclusions The mean age of the caregivers was 32.9 ± 7.76 years, and mainly women (64%). The age of the children ranged from 8 months to 18 years, and most were boys (57%). The proportion of total parental stress was 34%, with the "dysfunctional interaction" subscale at 63%, "parental distress" at 49%, and the "difficult child" subscale at 4%. Only 35% of the participants had no participation restriction, and a significant association between parental distress and social participation was noted (P = 0.004). Though the caregivers used all forms of coping strategies, caregivers with stress used the "avoidant emotional" strategy more compared to those without stress (mean score: 2 ± 0.41 vs 1.65 ± 0.34; P < 0.0001). Caregivers without stress mainly adopted the "problem-focused" coping strategy (mean score: 3.19 ± 0.54 vs 2.86 ± 0.62; P < 0.0001).
Objective Despite growing global recognition that nutrition literacy in childhood is a cornerstone of healthy eating and long-term wellbeing, evidence from Chinese primary school settings-particularly from inland, rapidly urbanizing regions-remains scarce. This study aimed to assess the nutrition literacy level of 4th-5th graders in chongqing, china, and to identify its key influencing factors, thereby sounding a wake-up call for school-based health promotion that holds relevance beyond the local context. Methods A multistage stratified cluster sampling method was used to conduct a cross-sectional online survey of 1,420 elementary school students in grades 4 and 5 in Chongqing, China. The questionnaire consisted of three sections: demographic characteristics, dietary behaviors, and nutrition literacy levels (Cronbach's α = 0.752). Participants were divided into high- and low-scoring groups based on the median nutritional literacy (NL) score. Multiple linear regression analysis was used to identify factors associated with nutrition literacy scores. Results The mean nutrition literacy score was 65.47 ± 9.79. In multivariable analysis, older age, female sex, minority ethnicity, urban residence, and higher caregiver educational attainment were independently associated with higher nutrition literacy scores (all P < 0.05). Keeping meal records (β = 4.18, 95% CI: 2.84-5.51) and participating in meal preparation (β = 2.07, 95% CI: 1.03-3.12) were also positively associated with nutrition literacy, whereas a meal duration of 31-45 min was negatively associated with nutrition literacy compared with <15 min (β = -3.39, 95% CI: -5.36 to -1.42). Conclusion Nutrition literacy among 4th-5th grade students in Chongqing was generally low and was associated with both sociodemographic characteristics and dietary behaviors. The findings highlight the importance of strengthening nutrition education and promoting practical food-related activities among school-aged children, with particular attention to children from socioeconomically disadvantaged backgrounds.
