Hypertensive pneumothorax with cystic lesions: Pleuropulmonary blastoma in an infant.

Pleuropulmonary blastoma (PPB) is a rare primitive malignant lung cancer that occurs in pediatric age. Its main differential diagnosis is congenital cystic pulmonary malformation (CPAM). A 30-day-old infant with respiratory failure obtained a chest x-ray and a computed tomography scan (CT) which revealed hypertensive pneumothorax with multifocal bilateral cysts. After thoracic drainage, the patient underwent multiple thoracoscopic pulmonary resections. The first histological diagnosis was of type 2 CPAM. During the radiological follow-up, an increase in the number and dimension of the lesions was detected. Thus, a histological revision was performed, leading to the diagnosis of type I PPB, at nine months. The patient subsequently underwent chemotherapy. At the five-year follow-up appointment, chest magnetic resonance (MR) and CT scans showed a dimensional increase in size of the lesions, with the risk of recurrent pneumothorax. An upper right lobectomy and wedge resection of the residual cysts were performed. Control MR scans showed normalization of the lung parenchyma and the patient showed substantial clinical improvement.

Why Do So Many People with Type 2 Diabetes Who Take Insulin Have Lipohypertrophy? Fate or Educational Deficiencies?

INTRODUCTION: Cutaneous lipohypertrophy (LH) is a thickened, "rubbery" lesion in the subcutaneous tissue following multiple injections performed at the same site, i.e., an incorrect injection technique. It is widespread, averaging 47% of insulin patients worldwide, and has severe direct and indirect consequences. Direct consequences consist mainly of poor metabolic control and frequent hypoglycemic events (HYPOs), and indirect ones of markedly increased healthcare costs related to hospital access due to acute events and long-term disease complications. This observation also holds for Italy, despite the National Health System organization expecting every patient with diabetes to undergo a series of visits by different care team members, each performing a specific treatment/education task. Indeed, the recent literature points to poor awareness of LH relevance and metabolic consequences among doctors from general and diabetic hospital wards, with educational deficiencies on correct injection practice in nurses too. The aim was to establish if, to what extent, and by whom they had received training on correct insulin injection techniques, and how many initially received notions had persisted over time. METHODS: We investigated the possible causes of such a failure from the point of view of 1160 insulin-requiring subjects with type 2 diabetes (T2DM), reporting for the first time to specialized diabetic structures through a validated questionnaire and, in the same patients, we searched for LH by inspection/palpation according to international guidelines, further confirmed by ultrasound scans. We then analyzed differences in education and injecting behavior between subjects classified as LH+ or LH- depending on the presence or absence of LH lesions. RESULTS: We documented significant educational gaps, with 50% of patients failing to refer to healthcare professionals and relying on their peers with diabetes, thought to be more experienced in 15% of the cases. Seventy-five percent of LH- patients received education from healthcare providers, while 90% of LH+ learned from another patient or could not remember how they knew, and 68% of LH+ versus 52% of LH- (p < 0.01) patients had failed to receive training on injection techniques by healthcare providers. All of this enabled the most disabling features of diabetes from the very beginning of the disease history. CONCLUSIONS: This study documents, from the patients' point of view, that educational gaps are significant and that, even in initially trained subjects, education on correct injection techniques has a fleeting effect if not regularly recalled. Therefore, to rehabilitate LH+ patients as soon as possible and prevent LH- patients from inadvertently slipping into the other group, there is an urgent need to educate doctors and nurses repeatedly on the importance of correctly injecting insulin to improve patients' knowledge and skills.

The impact of adiposity indices on lung function in children with respiratory allergic diseases.

INTRODUCTION: The effect of obesity on lung function in children stratified by asthma status is not fully elucidated. We evaluated the impact of adiposity indices, including Body Mass Index (BMI) and estimated fat mass (eFT), on lung changes in asthmatic and non-asthmatic children with rhinitis. PATIENTS AND METHODS: We performed a retrospective review of 400 pediatric patients, classified into an asthma group (n = 200) and a no-asthma group (n = 200). According to the BMI z-score all subjects were classified into normal-weight patients (NW; -2 ≤ BMI z-score <1) and overweight patients/patients with obesity (OW/OB; BMI z-score ≥1). Lung function parameters were measured by spirometry. BMI and eFM were considered as adiposity indices. RESULTS: Excess weight/obesity was present in 37 % of patients. The OW/OB group showed higher basal forced expiratory vital capacity (FVC) and lower forced expiratory volume in 1 s (FEV1), FEV1/FVC ratio compared to the NW group (p ≤ 0.01). FVC and FEV1 were correlated with the BMI z-score, and FEV1/FVC with eFT (p ≤ 0.01). No differences were noted between the NW and the OW/OB groups in terms of respiratory parameters except for FVC (p < 0.01). In the OW/OB group, asthma patients were significantly different based on FEV1, FEV1/FVC, and forced expiratory flow at 25-75 % of FVC (FEF25/75) (p < 0.01). The BMI z-score was correlated with FVC and FEV1 in both the no-asthma and asthma groups (p ≤ 0.01 and p ≤ 0.05, respectively), while eFM was correlated with FEV1/FVC (p = 0.007) in the asthma group only. CONCLUSION: Obesity seems to have a significant impact on lung function in children with respiratory allergic diseases. BMI and eFM may be used to evaluate the impact of adiposity on lung function.

Immunonutrition and SARS-CoV-2 Infection in Children with Obesity.

Since the beginning of the SARS-CoV-2 pandemic, there has been much discussion about the role of diet and antiviral immunity in the context of SARS-CoV-2 infection. Intake levels of vitamins D, C, B12, and iron have been demonstrated to be correlated with lower COVID-19 incidence and mortality. Obesity has been demonstrated to be an independent risk for the severity of COVID-19 infection in adults and also in children. This may be due to different mechanisms, mainly including the gut dysbiosis status observed in obese children. Moreover, the existence of a gut-lung axis added new knowledge to on the potential mechanisms by which diet and dietary substances may affect immune function. The aim of this narrative review is to address the intricate inter-relationship between COVID-19, immune function, and obesity-related inflammation and to describe the role of nutrients and dietary patterns in enhancing the immune system. Two ways to fight against COVID-19 disease exist: one with an antiviral response through immune system boosting and another with antioxidants with an anti-inflammatory effect. In the current pandemic situation, the intake of a varied and balanced diet, rich in micronutrients and bioactive compounds including fibers, should be recommended. However, clinical studies conducted on children affected by SARS-CoV-2 infection and comorbidity are warranted.

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly.

Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including pituitary and brain malformations. Case Presentation. A five-year-old girl came to medical attention following a mild cervical trauma with onset of cervical pain. On clinical examination at birth, postaxial polydactyly type B of the left hand was observed and removed at 10 months of age. A cervical radiography was performed, and a suspicion of craniocervical junction malformation was made. A magnetic resonance imaging of the cervical spine was made, showing an ectopic posterior pituitary, associated with dysmorphism of the craniocervical junction. The anthropometric parameters were pubertal Tanner stage 1, weight 16 kg (z-score: -1.09), height 107 cm (z-score: -0.76), and BMI 14 kg/m2 (z-score: -0.92). Normal hormonal assessment was detected. Genetic analysis via next generation sequencing showed a novel de novo heterozygous variant (c.277 G > T, p.Glu93 ∗ ) in exon 3 of BMP4. Discussion. We described a novel mutation in BMP4, resulting in ectopic posterior pituitary with normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. It is important to monitor patient's growth and puberty and to screen the onset of symptoms related to the deficiency of one or more anterior as well as posterior pituitary hormones.

The Economic Burden of Insulin Injection-Induced Lipohypertophy. Role of Education: The ISTERP-3 Study.

INTRODUCTION: The history of insulin-induced skin lipohypertrophy (LH) runs parallel to that of insulin's 100 years, and an average of 47% of insulin-treated patients still suffer from it today. The metabolic and economic effects of LH are significant, with hypoglycemia being the most striking. The objective of the study was to perform a 52-week follow-up of 713 insulin-treated patients with type 2 diabetes (T2DM) and LH to detect any differences in the occurrence of hypoglycemic events (HYPOs) and related healthcare costs as well as in LH rates and injection habits between an intensive education intervention group (IG) and control group (CG) provided with a single educational session at the starting point. METHODS: All participants were trained in accurately self-monitoring blood glucose and recording all HYPOs for 6 months, which allowed baseline recordings before they were randomized into the IG, comprising 395 insulin-treated subjects undergoing repeated, structured multimodal education on correct injection techniques as a longstanding behavioral rehabilitation strategy, and the CG, comprising 318 subjects receiving the same structured, multimodal educational session, but only initially. RESULTS: Changes in LH rate and size and in performance were large in the IG and only slight and transient in the CG. A striking difference in the rate of decrease of HYPOs was also apparent between groups. Indeed, estimated costs of health interventions for severe and symptomatic HYPOs, which were on the order of €70,000 and €9300, respectively, in the two groups at baseline decreased by 5.9 times and 13.7 times, respectively, at the end of follow-up in the IG and by only approximately half in the CG. Full details of the changes occurring as a result of intensive education are provided in the text. CONCLUSIONS: The effect of only initial education in the CG was not significant, thus providing evidence of the virtual worthlessness of a single training session on injection techniques, typical of worldwide daily clinical practice, and easily explaining the extremely high prevalence of LH in insulin-treated patients. Conversely, highly positive effects on LH prevalence and size as well as costs expected from decreased HYPO rate were obtained in the IG. To our knowledge, ours is the first 18-month randomized trial in the field. If our experimental model were to be used as an effective, longstanding behavioral rehabilitation strategy and therefore adapted to real-world settings universally, LH prevalence and costs related to their clinical consequences would be drastically reduced. However, only with a strong, relentless commitment of universities, scientific societies, and patient associations can we achieve this ambitious goal, which would provide great institutional savings and improved quality of life for people with diabetes.

Pediatric Obesity-Related Asthma: The Role of Nutrition and Nutrients in Prevention and Treatment.

Childhood obesity rates have dramatically risen in numerous countries worldwide. Obesity is likely a factor in increased asthma risk, which is already one of the most widespread chronic respiratory pathologies. The pathogenic mechanism of asthma risk has still not yet been fully elucidated. Moreover, the role of obesity-related inflammation and pulmonary overreaction to environmental triggers, which ultimately result in asthma-like symptoms, and the importance of dietary characteristics is well recognized. Diet is an important adjustable element in the asthma development. Food-specific composition of the diet, in particular fat, sugar, and low-quality nutrients, is likely to promote the chronic inflammatory state seen in asthmatic patients with obesity. An unbalanced diet or supplementation as a way to control asthma more efficiently has been described. A personalized dietary intervention may improve respiratory symptoms and signs and therapeutic response. In this narrative review, we presented and discussed more recent literature on asthma associated with obesity among children, focusing on the risk of asthma among children with obesity, asthma as a result of obesity focusing on the role of adipose tissue as a mediator of systemic and local airway inflammation implicated in asthma regulation, and the impact of nutrition and nutrients in the development and treatment of asthma. Appropriate early nutritional intervention could possibly be critical in preventing and managing asthma associated with obesity among children.

The Durability of an Intensive, Structured Education-Based Rehabilitation Protocol for Best Insulin Injection Practice: The ISTERP-2 Study.

INTRODUCTION: Studies on the durability of an intensive, structured education protocol on best insulin injection practice are missing for people with type 2 diabetes mellitus (T2DM). The aim of this study was to assess the durability of an intensive, structured education-based rehabilitation protocol on best insulin injection practice in well-trained subjects from our previous intensive, multimedia intervention study registered as the ISTERP-1 study. A total of 158 subjects with T2DM from the well-trained group of the 6-month-long ISTERP-1 study, all of whom had successfully attained lower glucose levels compared to baseline levels with lower daily insulin doses and with less frequent and severe hypoglycemic episodes, participated in the present investigation involving an additional 6-month follow-up period, called the ISTERP-2 study. METHODS: Participants were randomized into an intervention group and a control group, depending on whether they were provided or not provided with further education refresher courses for 6 months. At the end of the 6 months, the two groups were compared in terms of injection habits, daily insulin dose requirement, number of severe or symptomatic hypoglycemic events, and glycated hemoglobin (HbA1c) levels. RESULTS: Despite being virtually superimposable at baseline, the two groups behaved quite differently during the follow-up. The within-group analysis of observed parameters showed that the subjects in the intervention group maintained and even improved the good behavioral results learned during the ISTERP-1 study by further reducing both the rate of injection technique errors (p < 0.001) and size of lipohypertrophic lesions at injection sites (p < 0.02). Conversely, those in the control group progressively abandoned best practice, except for the use of ice-cold insulin and, consequently, had significantly higher HbA1c levels and daily insulin dose requirements at the end of the follow-up than at baseline (p < 0.05). In addition, as expected from all the above, the rate of hypoglycemic episodes also decreased in the intervention group (p < 0.05), resulting in a significant difference between groups after 6 months (p < 0.02). CONCLUSION: Our data provide evidence that intensive, structured education refresher courses have no outstanding durability, so that repeated refresher courses, at least at 6-month intervals, are needed to have positive effects on people with T2DM, contributing not only to prevention but also to long-term rehabilitation. TRIAL REGISTRATION: Trial Registration no. 118 bis/15.04.2018.

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene.

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents' DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder.

Waist Circumference and Healthy Lifestyle Preferences/Knowledge Monitoring in a Preschool Obesity Prevention Program.

Weight and body mass index (BMI) changes appear to be poor measures for assessing the success of most pediatric obesity prevention programs (POPP). The aim of this study is to evaluate the effectiveness of the preschool-age prevention program (3P) in improving and maintaining overtime preschoolers' knowledge/preferences about healthy nutrition and physical activity (PA), and the relationship between acquired healthy behaviors and anthropometrics including waist circumference (WC). Twenty-five preschoolers underwent a 24-month healthy lifestyle multi-component pilot intervention followed by a one-year wash-out period; 25 age-matched served as controls. Anthropometric/behavioral data were monitored. After the 2-year study and wash-out, the rates of children overweight and with obesity decreased only in the intervention group, where, also, normal-weight children with visceral obesity attained WC normal values (p = 0.048). While mean values of BMI Z-scores remained unchanged in both the intervention and control groups, WC (values and percentiles) showed a significant reduction only in the intervention group. Children's adherence to the Mediterranean diet remained acceptable among the entire sample. Although daily sweet beverage consumption remained unchanged in both groups, knowledge/preferences improved significantly more in the intervention group. In conclusion, WC may be more sensitive than BMI for monitoring preschoolers in POPP and reflects healthy behavioral changes acquired during the intervention.

Large single cutaneous metastasis of colon adenocarcinoma mimicking a squamous cell carcinoma of the skin: A case report.

INTRODUCTION: Metastases represent one of the most outstanding characteristics of malignant neoplasms and are relatively rare in the skin, in spite of the great extension of the cutaneous organs. Development of cutaneous metastases from colon cancer is a rare event, usually occurring in widely disseminated disease and commonly leading to a poor prognosis. As to location, cutaneous metastases often favor areas close to the primary malignancy, such as lung cancer and skin metastases on the trunk. However, remote sites as the scalp may be also involved. CASE PRESENTATION: We present the case of a 92-year-old female patient with a massive single nodular skin lesion on her left supraclavicular area, that came back positive for cutaneous metastasis of colon adenocarcinoma. DISCUSSION: Cutaneous metastasis of colorectal cancer a rare event (2.3%-6%) that usually occur two years after the detection or resection of the primary tumor. It seldom occurs before the identification of the primary tumor and involvement of secondary organs, such as the liver. There are few cases reported with only cutaneous metastases. CONCLUSION: In conclusion, dermatological evaluation of patients who are undergoing screening or who have already been diagnosed with cancer is extremely important.

Limberg fasciocutaneous transposition flap for the coverage of an exposed hip implant in a patient affected by ewing sarcoma.

INTRODUCTION: Hemipelvectomy with immediate reconstruction with prosthetic devices for the surgical treatment of malignant tumors is an invasive procedure with many possible complications such as wound breakdown, seroma, hematoma and infection.The treatment of an exposed hip implant in these cluster of patient is extremely challenging and the literature shows how negative pressure wound therapy and myocutaneous, both pedicled and free, flaps are workhorses in these situations. CASE REPORT: In this paper we report a successful coverage of exposed prosthetic hip implant with a local fasciocutaneous flap in a patient in which any other kind of reconstruction was not feasible. DISCUSSION: Fasciocutaneous flaps can be considered as an easily performed and minimally invasive surgical procedure, particularly reliable even in patients in poor general conditions, with preservation of future flap options.

Combined epigastric hernia repair and mini-abdominoplasty. Case report.

The objectives of abdominal hernia repair are to restore the structural integrity of the abdominal wall. Current techniques include primary closure, staged repair and the use of prosthetic materials. Techniques for mini-abdominoplasty include the use of the transverse lower abdominal incision and the resection of excess skin. We report a case of epigastric hernia repair through a transverse lower abdominal incision with the resection of excess of skin. Our purpose is to evaluate the results of the procedure by incorporating these aspects into an epigastric hernia repair, we found out that the procedures are made safer and the results are improved. Proper indication and details of the technique are described.

Cystic nephroma: report of a case and review of the literature.

Cystic nephroma is a rare benign cystic renal tumor, which has been only recently recognized as an exclusively adult histological entity. We present a case of cystic nephroma, together with clinical, radiological, histopathological and immunohistochemical findings. The histopathological differential diagnosis and immunohistochemical features that are potentially useful for refining this tumor are discussed.