Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome

Backgroundcardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications.Case presentationthe patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.Conclusionthis paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary

Elementi teorici per il disegno informatico.

IL testo affronta i temi di base del disegno informatico: i sistemi di proiezione parallela e prospettica, le diverse metodologie di modellazione (solida, di superfici e poligonale) e le tecniche di rendering

Cancer-related malnutrition management: A survey among Italian Oncology Units and Patients’ Associations

Attitudes toward cancer-related malnutrition vary considerably among oncologists and nutritional support is often not handled according to the available guidelines. The Italian Association of Medical Oncology (AIOM), Italian Society of Artificial Nutrition and Metabolism (SINPE), Italian Federation of Volunteer-based Cancer Organizations (FAVO), and Fondazione AIOM Working Group conducted a national web-based survey addressed to all Italian Oncology Units referees and Italian Cancer Patients Associations. The aim was to investigate the current management of malnutrition and views on nutritional care among oncologists and patients. One hundred and seventy-one (51.6%) of the 331 registered Italian Oncology Units and 75 (38.5%) of the 195 FAVO local communities participated in the survey. Nutritional assessment and support were integrated into patient care from diagnosis for 35% of Oncology Unit referees and 15% of FAVO associates. According to 42% of oncologists, nutritional assessment was carried out only after patients requested it, while it was not performed at all for 45% of FAVO associates. Almost 60% of patient affiliates were not aware of clinical referrals for home artificial nutrition management. However, for almost all responders, the evaluation of nutritional status was considered crucial in predicting tolerance to anticancer treatment. Although malnutrition was considered a limiting factor in oncology treatments by both oncologists and patients, nutritional care practices still appear largely inappropriate. Attitudes differ between oncologists and patients, the latter reporting a more dissatisfied picture. Improving nutritional care in oncology remains a challenging task

Comprehensive nutritional assessment in short bowel syndrome with chronic renal failure on teduglutide therapy: A case report

We report the case of a 62-y-old woman with short bowel syndrome (SBS) and chronic renal failure, successfully treated with teduglutide, who underwent comprehensive systematic nutritional assessment including bioelectrical impedance vectorial analysis (BIVA). The patient did not tolerate the attempt of gradual suspension of parenteral nutrition (PN), bumping into the worsening of nutritional status and renal function. She was declared eligible for teduglutide, a glucagonlike peptide 2 analog that stimulates structural and functional intestinal adaptation and increases nutrient and fluid absorption. To date, there is no standardized nutritional management protocol for PN-dependent SBS patients treated with teduglutide. We here report our first 1-y follow-up data. The patient underwent comprehensive systematic nutritional assessment initially every 2 wk, then monthly. It included handgrip strength (HGS), blood tests (particularly serum creatinine, estimated glomerular filtration rate, urea, electrolytes, micronutrients, serum albumin), fluid intake, urine output, quality-of-life (QoL) evaluation, and BIVA, which estimates fat-free mass (FFM) and measures phase angle (PhA) and hydration status. At treatment initiation, the patient was on PN 3 d/wk. After 3 mo, she was weaned off PN. At 1 y, weight and serum albumin were reduced (–7.5 kg and –0.6 g/dL, respectively); FFM, PhA, and HGS slightly decreased; hydration status and renal function were preserved; and QoL subtly improved. No relevant clinical complications or metabolic imbalances occurred. The inclusion of BIVA in the comprehensive systematic nutritional assessment of SBS patients treated with teduglutide could be proposed for appropriate and safe management, particularly in the presence of renal impairment

Bioelectrical impedance vector analysis-derived phase angle predicts survival in patients with systemic immunoglobulin light-chain amyloidosis

Background: The aim of the present prospective study (ClinicalTrials.gov Identifier: NCT02111538) was to assess the prognostic value of phase angle (PhA), derived from bioimpedance vectorial analysis (BIVA), in patients affected by systemic amyloid light-chain (AL) amyloidosis. Methods: One hundred-twenty seven consecutive newly diagnosed, treatment-naïve patients with histologically confirmed AL amyloidosis were enrolled. Nutritional assessment including BIVA-derived PhA was performed before treatment initiation. Results: PhA was associated with unintentional weight loss, caloric intake and the physical component of quality of life (QoL). After a median follow-up of 16.3 months (25th–75th percentile: 8.4–28.9 months), 49 (38.6%) subjects had died. At multivariable Cox proportional hazard analysis, PhA ≤4.3 independently predicted survival (HR = 2.26 [95%CI, 1.04–4.89]; p =.038]) after controlling for hydration status, haematologic response to treatment and modified Mayo Clinic cardiac stage. There was no effect modification of PhA on mortality by cardiac stage (P for interaction = 0.61). Conclusions: In AL amyloidosis, BIVA-derived PhA is associated with the common parameters implied in malnutrition assessment and QoL, and adjusted for hydration independently predicts survival. Due to its feasibility, BIVA should be systematically considered for the nutritional and clinical assessment of AL patients, in whom nutritional intervention trials are warranted

Influence of different lipid emulsions on specific immune cell functions in head and neck cancer patients receiving supplemental parenteral nutrition: An exploratory analysis

Objectives: The effect of diet on immune responses is an area of intense investigation. Dietary lipids have been shown to differently influence and fine-tune the reactivity of immune cell subsets, thus potentially affecting clinical outcomes. Patients with head and neck squamous cell carcinoma face malnutrition, due to swallowing impairment related to the tumor site or to treatment sequalae, and may need supplemental parenteral nutrition (SPN) in addition to oral feeding when enteral nutrition is not feasible. Additionally, immune depression is a well-known complication in these patients. Parenteral nutrition (PN) bags contain amino acids, minerals, electrolytes and mostly lipids that provide calories in a concentrated form and are enriched with essential fatty acids. The aim of this study was to investigate multiple parameters of the immune responses in a cohort of patients with head and neck squamous cell carcinoma undergoing supplemental PN with bags enriched in ω-3 or ω-9 and ω-6 fatty acids. Methods: To our knowledge, this was the first exploratory study to investigate the effects of two different PN lipid emulsions on specific immune cells function of patients with advanced head and neck squamous carcinoma. ω-3-enriched fish-oil-based- and ω-6- and ω-9-enriched olive-oil-basedSPN was administered to two groups of patients for 1 wk in the context of an observational multicentric study. Polychromatic flow cytometry was used to investigate multiple subsets of leukocytes, with a special focus on cellular populations endowed with antitumor activity. Results: Patients treated with olive-oil-based PN showed an increase in the function of the innate (natural killer cells and monocytes) and adaptive (both CD4 and CD8 cells) arms of the immune response. Conclusion: An increase in the function of the innate and adaptive arms of the immune response may favor antitumoral responses

Early intravenous administration of nutritional support (IVANS) in metastatic gastric cancer patients at nutritional risk, undergoing first-line chemotherapy: study protocol of a pragmatic, randomized, multicenter, clinical trial

Background: Malnutrition is common in cancer patients, particularly in those affected by gastrointestinal malignancies, and negatively affects treatment tolerance, survival, functional status, and quality of life (QoL). Nutritional support, including supplemental parenteral nutrition (SPN), has been recommended at the earliest opportunity in malnourished cancer patients. The limited available evidence on the efficacy of SPN in gastrointestinal cancer patients is positive, particularly with regards to QoL, body composition, and energy intake, but the evidence on survival is still scanty. Furthermore, studies regarding the early administration of SPN in combination with nutritional counseling from the beginning of first-line chemotherapy (CT) are lacking. We hypothesize that early systematic SPN in combination with nutritional counseling (NC), compared with NC alone, can benefit patients with previously untreated metastatic gastric cancer at nutritional risk undergoing first-line CT. Methods: The aim of this pragmatic, multicenter, randomized (1:1), parallel-group, open-label, controlled clinical trial is to evaluate the efficacy in terms of survival, weight maintenance, body composition, QoL and feasibility of cancer therapy of early systematic SNP. This is in combination with NC, compared with NC alone, in treatment-naïve metastatic gastric cancer patients at nutritional risk undergoing first-line CT. Discussion: Malnutrition in oncology remains an overlooked problem. Although the importance of SPN in gastrointestinal cancer patients has been acknowledged, no studies have yet evaluated the efficacy of early SPN in metastatic gastric patients undergoing CT. The present study, which guarantees the early provision of nutritional assessment and support to all the enrolled patients in accordance with the recent guidelines and recommendations, could represent one of the first proofs of the clinical effectiveness of early intensive nutritional support in cancer patients undergoing CT. This study could stimulate further large randomized trials in different cancer types, potentially resulting in the improvement of supportive care quality. Trial registration: This study is registered on ClinicalTrials.gov: NCT03949907