SURVIVAL ANALYSIS OF PEDIATRIC WILMS TUMOR BASED ON RISK STRATIFICATION

Objective: This study aims to determine prognostic factors of WT patient in Adam Malik Hospital, Medan. Material & Methods: at Adam Malik Hospital, Medan. Univariate and multivariate Cox regression analyses were performed to determine independent prognostic factors for WT. The primary endpoint of this study were patients’ overall survival (OS) obtained by performing Kaplan-Meier analysis on significant variables. Results: From the univariate Cox regression analysis, gender was found to be the sole significant factor (HR = 0.218, p = 0.005) with males have a higher hazard ratio. The multivariate Cox regression analysis yielded age of diagnosis (HR = 13.860, p = 0.014) and incomplete tumor removals (HR = 0.056, p = 0.008). Kaplan-Meier analysis were performed on three significant variables mentioned before. Only gender yielded a significant Mantel-Cox log-rank score (p = 0.002) with male patients were found to have better survivability (which median survival 476 days compared to females’ 11 days). The survival of the boys was 45.45% while all of the girls did not survive until the cut-off. Conclusion: Three prognostic factors, including children’s gender, age of diagnosis, and tumor removal status, were confirmed to be prognostic factors for the overall survival of children with WT. Further studies covering broader demographic areas were suggested to confirm significant results.

Relationship between Breast Cancer Surgical Treatment and Psychiatric Symptomatology: Which Sociodemographic and Clinical Factors Could Influence It? A Preliminary Study

This study aimed to investigate psychiatric symptomatology in a sample of patients affected by breast cancer undergoing surgery, evaluating the potential mediators on perceived stress levels, depression and hopelessness. The study was conducted on eighty-five patients with breast cancer, admitted consecutively to the Breast Unit of the IRCCS Ospedale Policlinico San Martino, between May 2018 and December 2019. Sociodemographic (age of diagnosis, gender, marital and occupational status, educational level, having children) and clinical (type and side of surgery, previous breast surgery, neoadjuvant chemotherapy and axillary dissection) characteristics were investigated through a semi-structured interview. The following rating scales were administered: Beck Depression Inventory, Beck Hopelessness Scale, and Perceived Stress Scale. Our findings indicate that the presence of children and of a partner was associated with a lower total score on the clinical dimensions evaluated. Furthermore, we found demolitive surgery to be a mediator between perceived stress and hopelessness, while history of previous breast surgery was found to be a mediator between demolitive surgery and perceived stress. In conclusion, patients affected by breast cancer undergoing more complex and demolitive surgery or with history of previous breast surgery should be mostly monitored from a psychological and psychiatric point of view from the beginning of treatments to evaluate the first manifestations of psychiatric symptomatology.

Food Protein-Induced Enterocolitis Syndrome: Healthcare Utilization and Referral Patterns Among a Pediatric Cohort

BACKGROUND: Food protein–induced enterocolitis syndrome (FPIES) is a non-IgE mediated food allergy characterized by delayed, repetitive vomiting. FPIES has gained attention over the last few years and is becoming better recognized; however, there remains a lag in diagnosis. This study aimed to further explore this lag in diagnosis, as well as referral patterns and healthcare utilization, to determine areas for earlier recognition. METHODS: Data was obtained through retrospective chart reviews of pediatric FPIES patients at two hospital systems in New York. Charts were reviewed for age of symptom onset, age of diagnosis, FPIES episodes and healthcare visits prior to diagnosis, and reason/source of referral to allergy. A cohort of patients with IgE-mediated food allergy was reviewed for comparison. RESULTS: In total, 110 patients with FPIES were identified. The median length to diagnosis was 3 months, compared to 2 months in IgE-mediated food allergy (p < 0.05). Most referrals were from the pediatrician (68%) or gastroenterology (28%), none were from the ED. The most common reason for referral was concern of IgE-mediated allergy (51%), followed by FPIES (35%). CONCLUSION: This study demonstrates a lag in the diagnosis of FPIES and a lack of recognition of FPIES outside of the allergy community, as only one-third of the patients were considered to have FPIES prior to an allergy evaluation. Patients with profuse, repetitive vomiting 1- 4 hours after food ingestion, especially of common FPIES trigger foods, should be considered for diagnosis of FPIES, as these encounters provide an opportunity for early recognition.

Conservative Surgery in Endometrial Cancer

Endometrial cancer (EC) is the sixth most common female cancer worldwide. The median age of diagnosis is 65 years. However, 4% of women diagnosed with EC are younger than 40 years old, and 70% of these women are nulliparous. These data highlight the importance of preserving fertility in these patients, at a time when the average age of the first pregnancy is significantly delayed and is now firmly established at over 30 years of age. National Comprehensive Cancer Network (NCCN guidelines state that the primary treatment of endometrial endometrioid carcinoma, limited to the uterus, is a total hysterectomy, bilateral salpingo-oophorectomy and surgical staging. Fertility-sparing treatment is not the standard of care, and patients eligible for this treatment always have to undergo strict counselling. Nowadays, a combined approach consisting of hysteroscopic resection, followed by oral or intrauterine-released progestins, has been reported to be an effective fertility-sparing option. Hysteroscopic resection followed by progestins achieved a complete response rate of 95.3% with a recurrence rate of 14.1%. The pregnancy rate in women undergoing fertility-sparing treatment is 47.8%, but rises to 93.3% when only considering women who tried to conceive during the study period. The aim of the present review is to provide a literature overview reflecting the current state of fertility-sparing options for the management of EC, specific criteria for considering such options, their limits, the implications for reproductive outcomes and the latest research trends in this direction.

Clinical Presentations, Diagnosis, and Management for Pediatric Antral Web—A 20-Year Experience of a Referral Center

Background: Antral web is a rare cause of gastric outlet obstruction in children. The presentation is diverse, depending on the degree of obstruction. Unfortunately, the guidance of management is still lacking.Methods: This study retrospectively evaluated the presentations, management, and outcomes of the pediatric antral web based on a 20-year experience in a referral center.Results: A total of 23 cases were included. The median age of diagnosis was 10 months (interquartile range, IQR, 0.8–23 months). Main presentations comprised vomiting (83%) and upper gastrointestinal (UGI) bleeding (48%). Concurrent gastric ulcers were common (68%). A total of 13 cases (57%) underwent interventional treatment. The median duration from diagnosis to intervention (DtI) was 10 days, but five with longer DtI, ranged from 30 to 755 days. Among the 15 cases with concurrent gastric ulcers, 10 patients received intervention, immediately in six but delayed in four. Surgical treatments (N = 12) achieved a cure in 11, with one rescued by endoscopic treatment.Conclusions: Children who suffer from early gastric ulcers with outlet obstruction shall raise the suspicion of the antral web. Complete obstruction madates early intervention. Around half of the cases with adequate feeding and growth need no intervention. Recurrent obstructive symptoms or adjacent ulcers justify a switch from observation to intervention to avoid complications or growth faltering.

Efficacy of enzalutamide in patients with metastatic hormone-sensitive and castration-refractory prostate cancer: authors’ experience

Prostate cancer is one of the most common neoplasms in men. It currently ranks second in Russian Federation amongst male population in overall number of cases after only lung cancer and third in cancer mortality. Prostate cancer is rarely diagnosed in patients younger than 40 years old, with overage age of diagnosis being between 50 and 70 years. A lot of different new treatment options were developed in the last decade for patients with metastatic prostate cancer (mPC). Despite androgen-deprivation remaining the standard of therapy, it has been proven that the addition of cytotoxic and hormonal drugs of new generation improves overall survival of patients with castration-sensitive and castration-resistant metastatic disease. Recently, enzalutamide became the new standard of care not only in castration-resistant mPC, but also in the setting of metastatic castration-sensitive prostate cancer, due to the data acquired in two large randomized trials ARCHES and ENZAMET. This article provides clinical examples demonstrating the effectiveness of enzalutamide in various forms of prostate cancer. In the first clinical case enzalutamide was used in the treatment of castration-sensitive mPC. Currently, patient continues to receive this therapy with progression-free interval exceeding 11 months. In the second clinical case, enzalutamide has shown its efficacy in the setting of castration-resistant PC. Stable disease was achieved and as of right now patient has shown no signs of progression for 9 months, which is already a significantly better result in comparison with previous lines of treatment.

Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward

The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012–2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance.

Epidemiology and Clinical Features of Birt-Hogg-Dubé Syndrome: A Nationwide Population-Based Study in South Korea

Background Birt–Hogg–Dubé (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean Health Insurance Review and Assessment service. Results We found 26 patients with BHD syndrome from 2017 to 2019. The prevalence of BHD syndrome was 5.67 per 107 population, with no peak age. Among incidence cases, the median age of diagnosis was 51 years, with slightly more females than males (n = 15, 57.7%). Over half of the patients (n = 14, 53.8%) experienced pneumothorax, and 10 (38.5%) developed malignant neoplasm within the clinical course. Conclusions The prevalence of BHD syndrome in Korea is extremely low. However, affected patients manifest several comorbidities, including malignant neoplasm and repetitive pneumothorax.

Clinical, Immunological and Genetic Characterization of Patients With X-linked Agammaglobulinemia in Costa Rica

X-linked agammaglobulinemia is caused by mutations in the gene encoding Bruton tyrosine kinase. It produces an arrest in the maturation and differentiation of B cells with very low levels of all immunoglobulins isotypes. The aim of the study was to characterize the clinical, immunological and genetic defect in patients with XLA in Costa Rica. Sixteen cases were identified over a period of 30 years, a case every 2 years, approximately. Three patients were asymptomatic and diagnosis was made by family history. the average age of onset of symptoms was 1.46 years-old (0.08-6.1). Six patients (44%) had onset of symptoms before 1 year of age and 12 (81%) patients before 5 years of age. The average age of diagnosis was 3.63 years-old (0.17-13, SD 3.51 years-old the average time between the onset of symptoms and the diagnosis was 2.5 years (2.5 months to 12 years, SD 3 years). Initial reason to study the patients was recurrent infection, family history of XLA, arthritis and neutropenia. Four patients had pneumonia and two had suppurative lung disease. Nine patients had recurrent infection: acute otitis media, sinusitis, mastoiditis and recurrent diarrhea. Three patients presented with arthritis. Neutropenia as an isolated event was not identified in any case. All patients receive monthly IVIG and no deaths were reported. Three new likely pathogenic/pathogenic variants in BTK gene have been described in our population. This is the first report of XLA Costa Rican patients and their BTK mutations.