Laparoendoscopically assisted endoscopic small bowel polypectomy in a patient with Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a rare condition, requiring regular endoscopic or radiological diagnostic studies. Polyps are a potential source of dysplasia and malignancy. We present a case in which we used a new diagnostic and therapeutic approach to this pathology by performing a laparoscopically assisted endoscopic polypectomy. This approach is minimally invasive and can be repeated if necessary. It might also be adopted for diagnosis and treatment of other intestinal pathologies, such as vascular malformations in the small bowel

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review

International audience3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, “full moon” face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857–196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype

A Cross-Sectional Assessment of Parental Concerns in the Pediatric Surgery Department during the COVID-19 Pandemic

The COVID-19 pandemic has impacted various aspects of healthcare, including pediatric surgery. This study aimed to assess parental concerns and stress levels in pediatric surgery during the COVID-19 pandemic, identify factors associated with increased parental anxiety or concern, and provide recommendations for healthcare providers. A cross-sectional study was conducted in a tertiary pediatric hospital in Timisoara, Romania, involving 174 parents of pediatric patients requiring elective or emergency surgery, with a mean age of 37.6 (25–47) years, out of which 89.1% of respondents were women. Parental concerns were assessed using the Parental Concerns Questionnaire (PCQ), the Hospital Anxiety and Depression Scale (HADS), and the Perceived Stress Scale (PSS-10). Parents of children undergoing emergency surgery (n = 108) reported higher levels on the practical impact domain of the PCQ scale (3.4 vs. 2.2, p p = 0.002), and total PCQ score (9.5 vs. 7.7, p n = 66). Parents in the emergent surgery group also reported higher anxiety scores on the HADS questionnaire (7.9 vs. 6.5, p = 0.009) and higher perceived stress and total score on the PSS-10 survey (7.8 vs. 5.6, p = 0.046) (10.5 vs. 9.1, p = 0.047), respectively. A significantly higher proportion of parents in the emergent surgery group were concerned about restricted visitation policies (p = 0.013) and reported delaying or considering delaying their child’s surgery due to the pandemic (p = 0.036). The results demonstrate heightened concerns, anxiety, and stress among parents of children undergoing emergency surgery during the COVID-19 pandemic. Healthcare providers should address parental concerns, provide clear communication, and ensure adequate support for families. Recommendations include enhancing information about COVID-19 precautions, reassuring parents about personal protective equipment availability, and facilitating family support within visitation restrictions

MONOAMINE OXIDASE IS A SOURCE OF OXIDATIVE STRESS IN OBESE PATIENTS WITH CHRONIC INFLAMMATION

Obesity is an important preventable risk factor for morbidity and mortality from cardiometabolic disease. Oxidative stress (including in visceral adipose tissue) and chronic low-grade inflammation are the major underlying pathomechanisms. Monoamine oxidase (MAO) has recently emerged as an important source of cardiovascular oxidative stress. The present study was purported to evaluate the role of MAO as contributor to reactive oxygen species (ROS) production in white adipose tissue and vessels harvested from patients undergoing elective abdominal surgery. To this aim, visceral adipose tissue and mesenteric artery branches were isolated from obese patients with chronic inflammation and used for organ bath, ROS production, qRT-PCR and immune-histology (IH) studies. The human visceral adipose tissue and mesenteric artery branches contain mainly the MAO-A isoform, as shown by the qRT-PCR and IH experiments. A significant up-regulation of MAO-A, the impairment in vascular reactivity and increase in ROS production were found in obese vs non-obese patients. Incubation of the adipose tissue samples and vascular rings with the MAO-A inhibitor (clorgyline, 30 min) improved vascular reactivity and decreased ROS generation. In conclusion, MAO-A is the predominat isoform in human abdominal adipose and vascular tissues, is overexpressed in the setting of inflammation, and contribute to the endothelial dysfunctionThe accepted manuscript in pdf format is listed with the files at the bottom of this page. The presentation of the authors' names and (or) special characters in the title of the manuscript may differ slightly between what is listed on this page and what is listed in the pdf file of the accepted manuscript; that in the pdf file of the accepted manuscript is what was submitted by the author

Pulse Wave Velocity, a Predictor of Major Adverse Cardiovascular Events, and Its Correlation with the General Stress Level of Health Care Workers during the COVID-19 Pandemic

Background and Objectives: In the COVID-19 epidemiological context, the health care workers who were treating patients with COVID-19 were exposed daily to additional stress. Pulse wave velocity (PWV) is a predictive parameter for possible major adverse cardiovascular events. The present study aimed to evaluate the correlation between the general stress levels and PWVs of medical workers during the COVID-19 pandemic. Materials and Methods: The study group was heterogeneous in terms of the medical profession. PWV was measured using a TendioMed arteriograph. Assessment of stress level was performed using a general stress questionnaire with questions grouped on the areas that contribute to stress: lifestyle, environment, symptoms, job, relationships and personality. PWV measurements and stress assessment were performed both during the period with many patients with COVID-19 and during the period with few patients with COVID-19. Results: The stress levels and PWVs of subjects were higher in the period when they cared for patients with COVID-19 than in the period when they did not have patients with COVID-19. Conclusions: The study shows a positive correlation between the PWV of each subject and his/her stress score (the higher the stress score, the higher the PWV)

Cystic Echinococcosis in Hospitalized Children from Western Romania: A 25-Year Retrospective Study

Cystic echinococcosis (CE) is a cosmopolitan parasitic disease caused by Echinococcus granulosus. We aimed to assess the epidemiological aspects of the disease in hospitalized children from Western Romania, a well-known endemic area for CE. We retrospectively investigated the medical records of children hospitalized between 1998 and 2022. A total of 144 patients were included, and 58.3% were from rural areas. The number of cases increased with age, from 9% in the age group 3–5 years to 59.7% in the age group 11–17 years. The liver was more frequently affected (65.3%), and a significant association between gender and the affected organ was noted; liver cysts were more frequently diagnosed in girls, while lung cysts were recorded mostly in boys. Complications were more frequently reported in patients with pulmonary CE compared to hepatic CE (p = 0.04). Boys had more complications (16/23, 69.6%) compared to girls (7/23, 30.4%) (p = 0.03). A third of the children were hospitalized for more than 14 days, and multiple hospitalizations were recorded in 31.3% of the patients. This paper provides new insights into the epidemiologic features of cystic echinococcosis in children from Western Romania. Our findings indicate that exposure to the parasite starts in childhood, and the rate of hospitalization increases with age. Public health strategies should be implemented and permanently improved in order to lower the prevalence of CE in children

Combined Staged Surgery and Negative-Pressure Wound Therapy for Closure of a Giant Omphalocele

The management of giant omphaloceles had always been a point of interest for the pediatric surgeons. Many surgical techniques were proposed, but none of them succeeded to become the standard procedure in closing the congenital abdominal defect. We present a case of giant omphalocele in which we used staged surgical closure combined with a prosthetic patch, with negative-pressure therapy and, finally, definitive surgical closure. Even though a major complication occurred during the treatment, we were able to close the defect without any prosthetic material left in place

Static Plantar Pressure under Different Conditions in Children with Surgically Treated Unilateral Slipped Capital Femoral Epiphysis

Background: Slipped capital femoral epiphysis (SCFE) is the most common hip disease during infancy and adolescence. Our study aimed to analyze static plantar pressure in children with surgically treated unilateral SCFE. Methods: Twenty-two children with right SCFE with in situ fixation with one percutaneous screw were assessed by PoData plantar pressure analysis under three different conditions (open eyes, eyes closed, and head retroflexed). Results: The total foot loading was significantly higher on the unaffected limb compared with the affected one for all the three testing conditions (p p = 0.0068), left fifth metatarsal head (increased loading in head-retroflexed condition in comparison to eyes open, p = 0.0209), and left heel (lower loading in head-retroflexed condition in comparison to eyes open, p = 0.0293). Conclusion: Even after a successful surgical procedure, differences in foot loading can impact the postural static activities in different conditions (natural eyes-open, eyes-closed, or head-retroflexed posture)

Stress Dynamics in Families with Children with Neuropsychiatric Disorders during the COVID-19 Pandemic: A Three-Year Longitudinal Assessment

Background and Objectives: This study explores the impact of the COVID-19 pandemic on families with children diagnosed with neuropsychiatric disorders, focusing on stress dynamics and quality of life. Materials and Methods: A longitudinal survey was conducted over three years (2020–2022) involving 168 families. The survey included data on demographics, diagnosed conditions, access to therapies, mental well-being, and perceived challenges. Results: The study involved 62, 51, and 55 families in 2020, 2021, and 2022, respectively. ADHD emerged as the most prevalent condition, diagnosed in approximately 32% of the children. The pandemic significantly affected therapy access, with parents reporting a decrease from an average score of 8.1 in 2020 to 6.5 in 2022 (p = 0.029). Parents also reported increased feelings of being overwhelmed, peaking at 8.0 in 2021 before declining to 6.3 in 2022 (p = 0.017). Despite these challenges, there was a positive trend in family mental well-being, with scores increasing from 5.1 in 2020 to 6.7 in 2022 (p = 0.031). The Parental Stress Index (PSI) indicated decreasing trends in Emotional Stress and Parent–Child Communication Difficulties (p p p = 0.038), although depression scores did not show a significant change. Conclusions: The COVID-19 pandemic introduced notable challenges for families with neuropsychiatrically diagnosed children, particularly in therapy access and increased parental stress. However, the study also reveals a general improvement in family dynamics, mental well-being, and a decrease in behavioral challenges over time. The necessity of this study stems from the critical need to examine the impact of the COVID-19 pandemic on families with neuropsychiatrically diagnosed children, focusing on their resilience and adaptation in navigating therapy access, parental stress, and overall mental well-being