Pediatric non-Hodgkin lymphoma as a rare cause of spinal cord injury: When lymphoma hides in the canal.

Key Clinical Message: Spinal cord compression from non-Hodgkin lymphoma (NHL) should be considered as a potential diagnosis in cases of acute signs of myelopathy in pediatric patients. Abstract: Spinal cord compression in pediatric non-Hodgkin lymphoma (NHL) is a rare presentation with potential diagnostic challenges. We report on two pediatric patients with NHL who exhibited myelopathy signs as initial presentation. Considering NHL as a differential diagnosis in pediatric patients presenting with spinal cord compression is crucial for optimizing the outcome of these patients.

Does Basal Morning Luteinizing Hormone (bLH) Predict Central Precocious Puberty (CPP) in Girls?

Background and Objectives: bLH is considered an excellent biochemical predictor of CPP. However, its utilization in clinical practice shows some uncertainties. This study aims to evaluate the diagnostic power of bLH and propose a diagnostic algorithm for CPP. Materials and Methods: We conducted a monocentric cohort retrospective study evaluating all females referred for suspicion of CPP between 1 January 2017 and 31 December 2020 who underwent a GnRH test. Auxological, hormonal, and instrumental data were collected, including pelvic ultrasonography and bone age (BA) assessment. Simple linear regression, t-test, and ROC tests were utilized to study the diagnostic value of basal hormone levels. Two hundred thirteen girls were included in the study. They were subdivided into two groups according to the results of the GnRH test: Group 1, with LH peak > 5 IU/L (pubertal) and 79 patients (37%), and Group 2, with an LH peak ≤ 5 IU/L (prepubertal) and 134 patients (63%). Results: The ROC curve showed that bLH level > 1.5 Ul/L best predicts a pubertal response to the GnRH test (AUC 0.8821, accuracy 82%), with low sensitivity (34%). The multivariate analysis found that bLH > 0.5 IU/L, basal FSH (bFSH) > 3.5 IU/L, bLH/bFSH ratio > 0.16, BA advancement > 1.7 years, uterine volume > 3.6 mL, longitudinal uterine diameter > 41 mm, and the presence of endometrial rhyme were significantly associated with a pubertal response at the GnRH test. An algorithm based on these features was created, and its application would reduce the number of GnRH tests by 34%. Overall, 96.2% of Group 1 patients reached the LH peak at the 30th minute of the GnRH test, supporting the hypothesis that the GnRH test duration could be reduced to 30 min. Conclusions: Morning bLH > 1.5 IU/L could be carefully used as a diagnostic predictor of CPP. The GnRH test, even reduced to 30 min, could be reserved for girls who show low intermediate morning bLH and specific clinical signs of pubertal development.

Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center.

Testicular adrenal rest tumors (TARTs) are a common complication in male patients with congenital adrenal hyperplasia (CAH). The aim of our cross-sectional cohort study is to estimate the frequency of TARTs with the correlation of genotype and disease control on tumor development. Thirty-five male patients, aged 14-26 years, were included in the study, all followed by the same center of pediatric endocrinology in Bologna. We studied genotypes, hormonal profiles at different time intervals and testicular ultrasound. A logistic regression model with multivariant analysis was developed for the statistical analysis. TARTs were detected in 31.4% of the cases, 90.9% of them had a classic form with salt wasting, while 9.1% had a non-classic form. Additionally, a significant correlation between the incidence of TARTs and severity of genotype was detected. Patients with TARTs had markedly worse metabolic control on average (p = 0.027), reflected by high ACTH, 17OH progesterone, and overall delta4-androstenedione. In conclusion, a screening tool is mandatory, especially (but not exclusively) in patients with the most severe forms of CAH and poor endocrine control of the disease.

Exploring key-stakeholder perceptions on non-communicable disease care during the COVID-19 pandemic in Kenya.

Introduction: over one third of total Disability-Adjusted-Life-Years lost in Kenya are due to non-communicable diseases (NCD). In response, the Government declared significant commitment towards improving NCD care. The COVID-19 pandemic increased the burden on the already overstretched health systems in Kenya. The aims of this study are to assess whether health care providers perceived NCD care to be optimal during the pandemic and explore how to improve responses to future emergencies. Methods: this cross-sectional online survey included healthcare personnel with non-clinical roles (public health workers and policy-makers) and those delivering health care (doctors and nurses). Respondents were recruited between May and September 2021 by random sampling, completed by snowball sampling. Results: among 236 participants (42% in clinical, 58% in non-clinical roles) there was an overall consensus between respondents on NCD care being disrupted and compromised during the pandemic in Kenya. Detracted supplies, funding, and technical resources affected the continuity of NCDs' response, despite government efforts. Respondents agreed that the enhanced personnel capacity and competencies to manage COVID-19 patients were positive, but noted a lack of guidance for redirecting care for chronic diseases, and advocated for digital innovation as a solution. Conclusion: this paper explores the perceptions of key stakeholders involved in the management of NCDs in Kenya to improve planning for future emergency responses. Gaps were identified in health system response and preparedness capacity during the pandemic including the perceived need to strengthen NCD services, with solutions offered to guide resilience efforts to protect the health system from disruption.

An Online Survey of the Perceptions of Clinical and Non-Clinical Professionals on Healthcare for Non-Communicable Diseases and COVID-19 Measures During the Pandemic in Malaysia.

Objectives: This study assesses the opinions of health professionals in Malaysia on the disruption of non-communicable disease (NCD) services during the COVID-19 pandemic from March 2020 to January 2022. Methods: We conducted a cross-sectional online survey with 191 non-clinical public health workers and clinical health service workers in Malaysia from November 2021 to January 2022. Participants were recruited by the Malaysian Ministry of Health using major networks including key experts and practitioners. Secondary respondents were subsequently enrolled through snowballing. Results: The most notable issues raised by the survey participants relate to NCD service disruption, the redirection of NCD care resources, and NCD care being overburdened post-pandemic. Respondents also reported accounts of resilience and prompt reaction from the healthcare system, as well as calls for innovation. Conclusion: Most respondents perceived that the challenges arising from COVID-19 were mostly managed well by the healthcare system, which was able to provide the necessary services to NCD patients during this health emergency. However, the study identifies gaps in the health system response and preparedness capacity, and highlights solutions for strengthening NCD services.

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.

Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disease. The administration of pyridoxine, the natural cofactor of CBS, may reduce total plasma Hcy. Patient phenotype is classified on pyridoxine responsivity in two groups: pyridoxine-responsive and non-responsive patients. Ectopia lentis, bone deformities, developmental delay, and thromboembolism are the classic signs and symptoms of the disease. Early diagnosis and treatment impact patients' natural history. Therapy aims to lower promptly and maintain Hcy concentrations below 100 µmol/L. Depending on the patient's phenotype, the treatment goals could be obtained by the administration of pyridoxine and/or betaine associated with a methionine-restricted diet. CBSD could be diagnosed in the early days of life by expanded newborn screening (ENS), however, the risk of false negative results is not negligible. In Emilia-Romagna (Italy), during the first 10 years of screening experience, only three cases of CBSD identified have been diagnosed, all in the last two years (incidence 1:118,000 live births). We present the cases and a comprehensive review of the literature to emphasize the role of ENS for early diagnosis of CBSD and its potential pitfalls, reiterating the need for a more effective method to screen for CBSD.

Can GH Therapy Worsen a Clinically Silent Chiari Malformation? A Case Report and Systematic Literature Review.

BACKGROUND: The link between the effects of recombinant human growth hormone (rhGH) therapy in patients with growth hormone deficiency (GHD) and Chiari malformation type I (CM-1) is controversial. SUMMARY: We report the case of a patient with an unusual association of GHD due to ectopic posterior pituitary and CM-1. Our patient developed a headache and worsening of CM-1 after the initiation of rhGH therapy. Following an atlo-occipital decompression surgery, the patient was able to resume therapy with a marked growth improvement. Based on this observation, we provide a systematic review of the current literature about these two pathologies. KEY MESSAGES: A careful follow-up of all patients with CM-1 treated with GH is mandatory, paying particular attention to the appearance of any neurological signs and symptoms.

Triage Grading and Correct Diagnosis Are Critical for the Emergency Treatment of Anaphylaxis.

Introduction: Anaphylaxis is one of the most frequent and misdiagnosed emergencies in the pediatric emergency department (PED). We aimed to assess which factors play a major role for a correct diagnosis and an appropriate therapy. Methods: We reviewed the records of children discharged with a diagnosis of anaphylaxis or an allergic reaction over 11 years from 3 hospitals in the Bologna city area. Results: One hundred and sixteen cases matched the criteria (0.03% of the total admittances) and were divided according to the patients' symptoms at arrival: active acute patients [AP], n = 50, or non-acute patients ([NAP], n = 66). At the patients' discharge, anaphylaxis was diagnosed in 39 patients (33.6%). Some features seemed to favor a correct diagnosis: active symptoms at arrival (AP vs. NAP, p < 0.01), high-priority triage code (p < 0.01), and upper airway involvement (p < 0.01). Only 14 patients (12.1%), all in the AP group, received epinephrine, that was more likely administered to patients recognized to have anaphylaxis (p < 0.01) and with cardiovascular, respiratory, or persistent gastrointestinal symptoms (p < 0.02), as confirmed by logistic regression analysis. Conclusions: Anaphylaxis is still under-recognized and under-treated. Correct triage coding and a proper diagnosis seem to foster an appropriate treatment. Physicians often prefer third-line interventions. Specific training for nurses and physicians might improve the management of this disease.

Non-Cystic Fibrosis Bronchiectasis in Pediatric Age: A Case Series in a Metropolitan Area of Northern Italy.

Non-cystic fibrosis bronchiectasis is an emergent disease characterized by endobronchial suppuration, dilated airways with neutrophilic inflammation and chronic wet cough due to recurrent lower airway infections. A regular clinical follow-up and adequate management of exacerbations are essential to reduce symptoms and the worsening of lung injury. We report a retrospective study comprising 15 children and adolescents with NCFB followed in our hospital center of pediatric pulmonology. We retrospectively analyzed the main comorbidities associated with the presence of NCFB, the radiological aspect associated with the different etiologies and the therapeutic approach used. We also emphasized the importance of an effective preventive strategy to reduce and prevent pulmonary exacerbations.

Social Determinants of Health and Distance Learning in Italy in the Era of the SARS-CoV-2 Pandemic.

Objectives: To investigate the experiences by distance learning (DL) method during the first wave of the SARS-CoV-2 pandemic in Italy, and to search for correlations with purported experiences and respective levels of social determinants of health (SDH). Study design and methods: Cross-sectional online survey, investigating various SDH and parents' attitude towards DL, proposed 6 months after the beginning of the pandemic to a sample population of parents with school-aged children throughout Italy. Results: A total of 3791 questionnaires were analyzed. Non-Italian parents complained more frequently of difficulties in providing support to their children in DL due to poor digital skills (p = 0.01), lack of good-quality digital equipment (p = 0.01), problems with the Italian language (p < 0.001), and a lower level of education (p < 0.001). When parents lived apart, greater difficulties in concentration in children using DL (p = 0.05) and a lower parental capacity to support DL (p = 0.002) were reported. Adequate digital structures appeared related to living in owned compared to rented property, higher levels of parental education, and better familial financial situations. Conclusions: Students from families with financial difficulties and low levels of parental education, or even those living in houses for rent or having separated parents, may be disadvantaged in an educational context since the introduction of DL.

Sleep disorders reveal distress among children and adolescents during the Covid-19 first wave: results of a large web-based Italian survey.

BACKGROUND: Measures to contain the Covid-19 pandemic led to significant lifestyle changes for children and adolescents mainly related to the closure of schools and recreational activities, reduced social interaction, and increased family concerns. METHODS: A cross-sectional online survey of 78 questions investigating social determinants of health, mood changes, symptoms of anxiety, increase in sleep disorders and unusual repetitive movements was offered to parents living in Italy with children ≤18 years; including families of children with disabilities, autism spectrum disorders, chronic diseases, and specific learning disabilities. The survey was conducted on the Qualtrics platform 6 months after the beginning of the pandemic and distributed in hospitals and paediatricians' waiting rooms as well as through social networks. The primary outcomes were the increase in sleep disorders among children and adolescents. Possible risk factors were investigated through multivariable regression. RESULTS: Six thousand two hundred ten volunteer parents responded to the questions concerning mood changes, sleep disorders and unusual repetitive movements, and were included in the present study. The majority were female (91.8%) and Italian (97.0%). 72.7% answered that their children had become more nervous, worried, or sad (80.2% in children with learning disabilities); 77.6% reported feelings of loneliness and 69.3% more difficulties in children falling asleep, 30.2% in staying asleep, and 18.7% an increase in nightmares and/or sleep terrors. Statistical analysis identified socioeconomic status, parent's job loss, food insecurity, family attitude toward the pandemic, and children's mood swing, feelings of loneliness, or missing outdoor activities, as major risk factors for sleep disorders. CONCLUSION: The first Covid-19 lockdown impacted children's and adolescents' health through an increase in sleep disorders. In the following phases of the pandemic, this evidence may be useful to investigate and treat these disorders as well as make decisions about containment health policies concerning this age group.

Parents' Perception of Food Insecurity and of Its Effects on Their Children in Italy Six Months after the COVID-19 Pandemic Outbreak.

The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) pandemic and subsequent containment measures are causing an increase in food insecurity (FI) worldwide, with direct consequences on children's nutrition. We aimed to investigate the effects of the lockdown imposed in Italy on FI and changes in eating habits and body weight in the pediatric population 6 months after the beginning of the pandemic through a cross-sectional online survey proposed to parents of children <18 and living in Italy. Among 5811 respondents, most of whom were Italian, living in Northern Italy, and with a wealthy household economy, 8.3% reported that their families were at risk of FI before the appearance of SARS-CoV-2 and, alarmingly, this percentage increased to 16.2% after the pandemic began, with households from Southern Italy being more at risk. Moreover, 27.3% of the parents reported that their children were eating more; an increase in "junk food" consumption was also found; 31.8% of the respondents declared an increase in children's weight; weight loss prevailed among adolescents. Since the SARS-CoV-2 pandemic is again requiring restrictions, our findings might serve as a warning to politicians to promote healthy lifestyles and provide assistance to the groups in need.