Night blindness in cystic fibrosis : the key role of vitamin A in the digestive system

Vitamin A is a fundamental micronutrient that regulates various cellular patterns. Vitamin A deficiency (VAT) is a worldwide problem and the primary cause of nocturnal blindness especially in low income countries. Cystic fibrosis (CF) is a known risk factor of VAD because of liposoluble vitamin malabsorption due to pancreatic insufficiency. We describe a case of a 9-year-old girl who experienced recurrent episodes of nocturnal blindness due to profound VAD. This little girl is paradigmatic for the explanation of the key role of the gut\u2013liver axis in vitamin A metabolism. She presents with meconium ileus at birth, requiring intestinal resection that led to a transient intestinal failure with parenteral nutrition need. In addition, she suffered from cholestatic liver disease due to CF and intestinal failure-associated liver disease. The interaction of pancreatic function, intestinal absorption and liver storage is fundamental for the correct metabolism of vitamin A

Management of Nonceliac Gluten Sensitivity by Gastroenterology Specialists : Data from an Italian Survey

Background and Aim. Nonceliac gluten sensitivity is syndrome characterized by symptoms disappearing after a gluten-free diet. Its existence is still argument of discussion among specialists. Our aim was to evaluate the knowledge about nonceliac gluten sensitivity among gastroenterology specialists. Methods. During October 2013 a questionnaire was sent through a medical newsletter to Italian gastroenterologists. Twelve questions investigated their knowledge on nonceliac gluten sensitivity, including their diagnostic and therapeutic approach. Results. A total of 212 gastroenterologists filled in the questionnaire. The 98.6% were aware of the existence of a syndrome called "nonceliac gluten sensitivity" and 77% believe in its existence. However, only 56% gave a correct definition of the term. The majority of specialists diagnosed gluten sensitive patients and the number of diagnoses was not statistically different from that of celiac disease. Moreover, a gluten-free diet was prescribed by 64% of the specialists and among them the 73% noted an increase of gluten sensitive patients attending their outpatient services. Conclusions. Our study indicated that most of the specialists recognize nonceliac gluten sensitivity and prescribe gluten-free diet, although 44% of the specialists are not able to give its correct definition; underlining the necessity of medical education on this topic is needed

Complex rearrangement involving 9p deletion and duplication in a syndromic patient : Genotype/phenotype correlation and review of the literature

We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3Mb terminal deletion associated with the inverted duplication of the adjacent 21,5Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of 9p deletion (genital disorders, midface hypoplasia, long philtrum) and of the 9p duplication (brachycephaly, down slanting palpebral fissures and bulbous nasal tip) are present. Interestingly, he does not show trigonocephaly that is the most prominent dysmorphism associated with the deletion of the short arm of chromosome 9. Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes

Paediatric Home Artificial Nutrition in Italy: Report from 2016 Survey on Behalf of Artificial Nutrition Network of Italian Society for Gastroenterology, Hepatology and Nutrition (SIGENP)

Home Artificial Nutrition (HAN) is a safe and efficacious technique that insures children's reintegration into the family, society and school. Epidemiological data on paediatric HAN in Italy are not available. Aim: to detect the prevalence and incidence of Home Parenteral Nutrition (HPN) and Home Enteral Nutrition (HEN), either via tube or mouth, in Italy in 2016. Materials and methods: a specific form was sent to all registered SIGENP members and investigators of local HAN centres, inviting them to provide the requested centre's data and demographics, underlying diseases and HAN characteristics of the patients. Results: we recorded 3403 Italian patients on HAN aged 0 to 19 years from 22 centres: 2277 HEN, 950 Oral Nutritional Supplements (ONS) and 179 HPN programs. The prevalence of HEN (205 pts/million inhabitants) and HPN (16 pts/million inhabitants) has dramatically increased in Italy in the last 9 years. Neurodisabling conditions were the first indication for HEN by tube or mouth while HPN is mainly requested in digestive disorders. Conclusions: HAN is a widespread and rapidly growing treatment in Italy, as well as in other European countries. Awareness of its extent and characteristics helps improving HAN service and patients' quality of life

Efficacy of Adalimumab as first-line “top-down” therapy in pediatric Crohn's Disease: 12 months of follow-up

Objectives and Study: Anti-tumour necrosis factor (TNF) agents are highly efficient in inducing and maintaining remission in pediatric Crohn's disease (CD). The question is who is the right patient and when is the right moment to introduce anti-TNF medication. Recent ECCO-ESPGHAN guidelines indicate a clear place of anti-TNF biologics in patients with positive predictors of poor outcome. The aim of our study was to evaluate the efficacy of adalimumab (ADA) as first-line therapy by comparing two НiffОrОnt stratОgiОsŚ χDχ “top Нown” in immunomoНulator anН anti-TNF naïve CD patients versus a “stОp up” stratОgy in patiОnts rОМОiving immunosupprОssivО agОnts (thiopurinО anН/or infliximabΨ before ADA. Method: Patients followed for CD at Necker hospital that started their ADA therapy between 2005 and 2017 were retrospectively reviewed. The beginning of the study (M0) was the date of first ADA injection. Enrolled patients were divided into 2 groups according to the treatment strategy. Group A was composed of patients naïve of immunosuppressors and anti TNF agents who started early ADA aftОr inНuМtion of rОmission, rОsulting in a “top Нown” stratОgy whilО group ψ was МomposОН by patiОnts who startОН χDχ aftОr a morО МlassiМal stratОgy (iО “stОp up” stratОgy using immunosuppressive agents then infliximab). For each patient were collected data at M0, M3, M6, M9 and M12 regarding the disease activity score (wPCDAI), auxological parameters, biological parameters (CRP, ESR, Albumin, ADA trough levels and antibodies anti-ADA). Results: 83 patients (43 boys) were enrolled in the study, 43,3% (n=36) in group A and 56,6% (n=47) in group B. Mean age at the start of ADA was 13.6 ± 2.6 years. At inclusion the 2 groups were comparable with a mean wPCDAi of 40.75 ± 14,8 in group A versus 45.6 ± 15,5 in group B. At 6 months, the 2 groups were in clinical remission with a median wPCDAI of 0 (0-12.5 IQR) in group A (n = 30) versus 0 (0-7.5 IQR) in group B (n=38) (p: 0.509). CRP level decreased from 15.5 (4.7-35.8 IQR) to 1.1 (0.5-5.6 IQR) in group A vs 17.1 (6.5-37.7 IQR) to 4,8 (0.7-6.1 IQR) in group B (p: 0.945 e p: 0.086). For the subgroup of patients who reached the 1 year follow up, there were no significant differences regarding the mean wPCDAI, CRP, ESR and serum allbumin between the 2 groups. Conclusion: ThО prОsОnt stuНy НОmonstratОs that thО “top Нown” stratОgy using Оarly χDχ monotherapy in disease course is as effective as a step-up strategy. Moreover, ADA monotherapy is as effective as combotherapy in maintaining clinical and biological remission at 1 year of follow-up in paediatric CD patients. Those results are very important to identify the best strategy in pediatric CD patients, where safety concerns are major

La notizia medico-scientifica e i media

In contrasto con la necessit\ue0 del pubblico di avere sempre pi\uf9 informazioni sulla salute, spesso la relazione giornalisti-scienziati non appare facile per la complessita del metodo scientifico e del suo gerg

Hyper IgE syndrome : a case report

Background and aims: The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash, and recurrent bacterial infections of the skin and lung. Methods: We report a case of a 13-year old boy from Sri-Lanka. The boy has been suffering from atopic dermatitis since first months of life, and from recurrent allergic asthma since the age of 2. Pustular lesions with a tendency toward formation of multiple abscesses appeared all from August 2011 and were always treated with antibiotic therapy. Results: In June 2012, the child was admitted to our department due to fever and abdominal pain that started 5 days prior to admission. Blood test results: PCR = 93,4 mg/L (normal value < 10 mg/L), Mycoplasma Pneumoniae serological Immunoglobulin (Ig) M positive, Ig E level = 10,428 UI/mL (normal value < 100 UI/mL). Mantoux test was negative. Chest X-ray showed a consolidation area, which looked like a pulmonary abscess. CT imaging confirmed the diagnosis. Clinical and radiological improvement was not achieved despite antibiotic treatment with ceftazidime and clarithromycin. The abscess was drained and Methicillin resistant (MRSA) Staphilococcus aureus was isolated. Considering the clinical features, IgE values and etiology of abscess, a diagnosis of Hyper-IgE syndrome was stated. Antibiotic therapy with vancomycin was started, and clinical condition improved. Identification of STAT3 mutation is still ongoing. Conclusion: complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences

Diagnosis of gluten related disorders : celiac disease, wheat allergy and non-celiac gluten sensitivity

Cereal crops and cereal consumption have had a vital role in Mankind's history. In the recent years gluten ingestion has been linked with a range of clinical disorders. Gluten-related disorders have gradually emerged as an epidemiologically relevant phenomenon with an estimated global prevalence around 5%. Celiac disease, wheat allergy and non-celiac gluten sensitivity represent different gluten-related disorders. Similar clinical manifestations can be observed in these disorders, yet there are peculiar pathogenetic pathways involved in their development. Celiac disease and wheat allergy have been extensively studied, while non-celiac gluten sensitivity is a relatively novel clinical entity, believed to be closely related to other gastrointestinal functional syndromes. The diagnosis of celiac disease and wheat allergy is based on a combination of findings from the patient's clinical history and specific tests, including serology and duodenal biopsies in case of celiac disease, or laboratory and functional assays for wheat allergy. On the other hand, non-celiac gluten sensitivity is still mainly a diagnosis of exclusion, in the absence of clear-cut diagnostic criteria. A multimodal pragmatic approach combining findings from the clinical history, symptoms, serological and histological tests is required in order to reach an accurate diagnosis. A thorough knowledge of the differences and overlap in clinical presentation among gluten-related disorders, and between them and other gastrointestinal disorders, will help clinicians in the process of differential diagnosis