Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians. Over the last 20 years, culture-independent analysis, including next-generation sequencing, has paired with culture-based microbiology, offering deeper insight into CF lung and gut microbiota. The aim of this review is to analyse the features of gut microbiota in patients with CF and its possible role in the progression of the disease, establishing the basis for a potential role in microbe-based therapies. The literature analysis showed that the gut environment in CF patients has unique features due to the characteristics of the disease, such as decreased bicarbonate secretion, increased luminal viscosity, and an acidic small intestinal environment, which, due to the treatment, includes regular antibiotic use or a high-energy and fat-dense diet. As a result, the gut microbial composition appears altered, with reduced richness and diversity. Moreover, the population of pro-inflammatory bacteria is higher, while immunomodulatory genera, such as Bacteroides and Bifidobacterium, are scarcer. The imbalanced gut microbial population has a potential role in the development of systemic inflammation and may influence clinical outcomes, such as respiratory exacerbations, spirometry results, and overall growth. Although a better understanding of the pathophysiology behind the gut–lung axis is needed, these findings support the rationale for considering gut microbiota manipulation as a possible intervention to regulate the severity and progression of the disease.
In the last 20 years, gut microbiota in patients with cystic fibrosis (CF) has become an object of interest. It was shown that these patients had gut dysbiosis and this could explain not only the intestinal manifestations of the disease but also part of those involving the respiratory tract. The acquisition of previously unknown information about the importance of some bacteria, i.e., those partially or totally disappeared in the gut of CF patients, in the regulation of the activity and function of the gut and the lung was the base to suggest the use of probiotics in CF patients. The main aim of this paper is to discuss the biological basis for probiotic administration to CF patients and which results could be expected. Literature analysis showed that CF intestinal dysbiosis depends on the same genetic mutations that condition the clinical picture of the diseases and is aggravated by a series of therapeutic interventions, such as dietary modifications, the use of antibiotics, and the administration of antacids. All this translates into a significant worsening of the structure and function of organs, including the lung and intestine, already deeply penalized by the genetic alterations of CF. Probiotics can intervene on dysbiosis, reducing the negative effects derived from it. However, the available data cannot be considered sufficient to indicate that these bacteria are essential elements of CF therapy. Further studies that take into account the still unsolved aspects on how to use probiotics are absolutely necessary.
Background: Childhood asymmetry labium majus enlargement (CALME) is an uncommon, benign condition that occurs in pre- and early pubertal girls and is characterized by a painless, fluctuating, non-tender labial swelling with normal overlying skin. Recognition of this benign condition is essential. Differentiation with several other diseases that mimic CALME and require different diagnostic and therapeutic approaches is mandatory. Two cases of CALME are described in this report. Differential diagnoses and therapeutic approaches are highlighted. Case presentation: The first case was an 11-year-old Caucasian girl referred to our hospital for the evaluation of right labium majus, which showed a palpable, painless, soft, non-tender, non-erythematous enlargement measuring approximately 2 cm with indistinct borders. Ultrasound showed a mass 23 × 18 × 12 mm in diameter. Surgical excision of the mass was performed and in the histopathological evaluation, the tissue specimens were composed of haphazardly arranged vascular channels, adipose tissue and nervous elements that were components of the vulvar soft tissue and were compatible with the diagnosis of CALME. Case 2 was a 6-year-old Caucasian girl who presented a post-traumatic painless mass of left labium majus swelling that progressively increased in volume. Ultrasound study evidenced an ill-defined heterogeneous echotexture mass 26 × 15 × 10 mm in diameter and magnetic resonance imaging confirmed these findings. Histopathological examination was performed after bioptic sampling evidencing normal constituents of vulvar soft tissue, including fibroblast, collagen, adipose tissue, blood vessels and nerves compatible with CALME. Conclusions: CALME is a particular clinical condition that occurs mainly in pre-pubertal girls and has a benign course but poses numerous problems in differential diagnosis that can be solved only with careful clinical observation and with a careful use of radiological imaging techniques. Our cases, in agreement with recent literature, suggest that radical excision is not recommended and that surgical biopsy should be taken into consideration only in cases of doubt.
Introduction: Phylloides tumours (PTs) are rare fibroepithelial neoplasms that account for 0.3–0.9% of all breast tumours. These tumours typically occur in women aged 30–70 years. The occurrence of these tumours in older children and adolescents poses particular diagnostic and therapeutic problems. However, early diagnosis is mandatory because although most of the cases of PTs in children are benign, the borderline and malignant cases with potential negative outcomes cannot be excluded. Case presentation: A 12-year-old girl presented at the Paediatric Emergency Department for hyperaemia and warmth of the left breast that occurred a few days prior without fever. The girl experienced menarche 8 months previously. She experienced no previous trauma and she had no family history of breast cancer. On physical examination, the left breast was painful, enlarged and tender. The overlying skin was erythematous and warm. A breast ultrasonography (US) revealed a large mass with features of an abscess, including a hyperechoic wall, scattered internal echoes and hypoechoic peripheral lacunae of apparent colliquative nature. After 4 days of unsuccessful antibiotic therapy, surgical drainage was performed due to the suspicion of a mammary abscess. At the surgical incision site, the lesion was not-well circumscribed and lacked a capsule. In addition, purulent material was not detected. Histological examination revealed that the tissue alterations were compatible with benign PT. With this diagnosis, the girl underwent definitive surgical removal of the lesion. The postoperative period passed without negative events. An US performed 6 months later revealed that no new mass was present at this time, suggesting no recurrence of the tumour. Conclusion: This case shows that in the presence of a clinical picture suggesting the inflammation of the breast in adolescent females, PT should be considered as a possible diagnosis and US-guided core biopsy should be considered to confirm this suspicion. Thereafter, when surgical excision is performed, particular attention must be paid to both the preservation of all the normal breast parenchyma and future aesthetic problems.