Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.

Heterozygous TGFBR2 loss-of-function mutation is an extremely rare cause of very-early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for clinicians. Here, we described an interesting new case of Loeys-Dietz syndrome presenting severe, very early intestinal inflammation associated with dysmorphic features, aortic arch tortuosity joint hyper laxity and severe scoliosis. TGFBR2 Sanger sequencing revealed a missense mutation c.1583G>A (p.Arg528His). As endoscopy confirmed a severe colitis, we chose a classical IBD therapeutic approach. We finally obtained remission under Ustekinumab (90 mg/6 weeks).

Novel insights into glucocorticoid replacement therapy for pediatric and adult adrenal insufficiency.

Adrenal insufficiency is defined as impaired adrenocortical hormone synthesis. According to its source, the deficit is classified as primary (adrenal steroidogenesis impairment), secondary (pituitary adrenocorticotropic hormone deficit) or tertiary (hypothalamic corticotropin-releasing hormone deficit). The management of adrenal insufficiency resides primarily in physiological replacement of glucocorticoid secretion. Standard glucocorticoid therapy is shrouded in several controversies. Along the difficulties arising from the inability to accurately replicate the pulsatile circadian cortisol rhythm, come the uncertainties of dose adjustment and treatment monitoring (absence of reliable biomarkers). Furthermore, side effects of inadequate replacement significantly hinder the quality of life of patients. Therefore, transition to circadian hydrocortisone therapy gains prominence. Recent therapeutic advancements consist of oral hydrocortisone modified-release compounds (immediate, delayed and sustained absorption formulations) or continuous subcutaneous hydrocortisone infusion. In addition to illustrating the current knowledge on conventional glucocorticoid regimens, this review outlines the latest research outcomes. We also describe the management of pediatric patients and suggest a novel strategy for glucocorticoid replacement therapy in adults.

Tonsillar lymphoma masquerading as obstructive sleep apnea - pediatric case report.

The commonest cause of head and neck malignancy in pediatric patients is lymphoma. A particular case is the tonsillar lymphoma. Even though unilateral tonsillar enlargement represents an ominous sign for neoplasia, clinical manifestations vary and are non-specific. Therefore, a delayed diagnosis is performed which compromises optimal therapy and hinders the prognosis. We present the case of a 5-year-old boy who was initially diagnosed with obstructive sleep apnea, without reported systemic complaints. Asymmetric tonsillar hypertrophy created the premises for performing a tonsillectomy to rule out malignancy. The pathological evaluation of the resected tonsils revealed a malignant non-Hodgkin's lymphoma, with immunophenotypic features consistent with sporadic type Burkitt lymphoma. The aim of this paper is to emphasize the importance of the histopathological examination and of the immunohistochemistry testing for the prompt and accurate diagnosis of all asymmetric tonsillar hypertrophy in children undergoing tonsillectomy. Furthermore, immunohistochemical diagnosis is vital for establishing a personalized multi-agent chemotherapy regimen, which dramatically improves the survival rate. We recommend histopathological evaluation in all children with asymmetric tonsillar hypertrophy undergoing tonsillectomy for various reasons. Needless to say, it is better to be cautious and exclude the presence of tonsillar lymphoma, than to confront with the severe consequences of misdiagnosis.

Diagnostic techniques for organic foreign body aspiration in children ­ case reports.

Tracheobronchial foreign body aspiration represents a life-threatening condition especially in young children. It carries a great amount of mortality and morbidity through the possibility of obstructing the airway and thus resulting in acute respiratory failure. The diagnostic challenges are brought by the great variability of clinical presentation which sometimes only consists of subtle symptoms. For an optimal therapeutic outcome, only a high index of clinical suspicion can ensure a prompt treatment. The mainstay of both diagnostic and therapeutic algorithm resides in bronchoscopy. The article reports the multidisciplinary management of two young children with organic foreign body aspiration, outlining the importance of a step-wise diagnostic approach.

The role of FENO and spirometry in the evaluation of obstruction in pediatric asthma.

INTRODUCTION: The fractional exhaled nitric oxide concentration (FENO) is used as a noninvasive biomarker for asthmatic inflammation. The role in establishing an asthma diagnosis is still under research. Spirometry remains the main investigation for the diagnosis and monitoring of asthma. OBJECTIVES: The aim of the study was to assess the correlation between FENO level and the values of spirometric parameters defining airflow obstruction. MATERIALS AND METHODS: The longitudinal study included a group of 89 children admitted to the Pediatric Clinic of "Grigore Alexandrescu" Emergency Clinical Hospital for Children. The inclusion criteria were: (i) a previously known diagnosis of asthma, (ii) age range between 5 and 18 years old. All patients underwent pulmonary function testing and measurement of FENO. RESULTS: Significant correlations were identified between FENO and a part of spirometric parameters: MEF75 (p=0.007), MEF50 (p=0.0.28), MEF25 (p=0.011) and PEF (p=0.020), but not with FEV1 (p=0.090), nor FVC (p=0.308). However, multiple linear regression analysis revealed that spirometric parameters poorly predict FENO variation (R=0.062, p=0.82). In adition, binary logistic regression analysis (LR) showed that FENO can not be used as a reliable biomarker (p=0.169) for the estimation of the risk for obstructive dysfunction. CONCLUSION: The level of exhaled nitric oxide does not correlate with the values of spirometric values. More studies with a large number of patients are needed for establishing the role of FENO in the evaluation of airflow obstruction.

A Self Organizing Map approach to breast cancer detection.

Detection and characterization of cancer tumors in mammograms is vital in daily clinical practice. The problem of detecting possible cancer areas is very complex due, on one hand, to the diversity in shape of the ill tissue and on the other hand to the poorly defined border between the healthy and the cancerous zone. Even though it has been studied for many years, there are still remaining challenges and directions for future research such as developing better enhancement and segmentation algorithms. The performance of the Self Organizing Map (SOM) in detecting the cancer suspicious regions in digitized mammograms is revealed in this study. In order to achieve the best results we firstly apply the preprocessing algorithms proposed in section II of the study.