Weaning practices in phenylketonuria vary between health professionals in Europe.

BACKGROUND: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. METHODS: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. RESULTS: Weaning started at 17-26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. CONCLUSIONS: Weaning strategies vary throughout European PKU centres. There is evidence to suggest that different infant weaning strategies may influence longer term adherence to the PKU diet or acceptance of Phe-free L-amino acid supplements; rendering prospective long-term studies important. It is essential to identify an effective weaning strategy that reduces caregiver burden but is associated with acceptable dietary adherence and optimal infant feeding development.

Early feeding practices in infants with phenylketonuria across Europe.

BACKGROUND: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. METHODS: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. RESULTS: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%. DISCUSSION: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development.

Effect of personalized dietary intervention on nutritional, metabolic and vascular indices in patients with chronic kidney disease.

OBJECTIVE: Patients with chronic kidney disease (CKD) present a markedly increased cardiovascular (CV) morbidity and mortality since the early stages of the disease and a high prevalence of malnutrition, inflammation, and accelerated atherosclerosis. Personalized nutritional intervention, with of a low-protein diet (LPD), since the early stages of CKD should be able to achieve significant metabolic improvements. In our study we have verified the effects of a personalized dietary intervention in patients in the CKD stages 3/4 KDOQI on nutritional, metabolic and vascular indices. PATIENTS AND METHODS: We have evaluated renal function, lipid profile, mineral metabolism, inflammatory indices, and acid-base balance of 16 patients with CKD (stages 3/4 KDOQI). Assessment of nutritional status, body composition, bone mineral density and muscle mass, using body mass index (BMI), handgrip strength, bioelectrical impedance analysis (BIA), and dual energy X-ray absorptiometry (DEXA) was performed. Vascular indices and endothelial dysfunction such as carotid intima-media thickness (cIMT) and the brachial artery flow-mediated dilation (baFMD) were also analyzed. RESULTS: After dietary interventions, we observed a significant increase in plasma bicarbonate (p = 0.004) and vitamin D levels (p = 0.03) and a concomitant significant reduction of phosphorus concentration (p = 0.001) and C-reactive protein (CRP) (p = 0.01). CONCLUSIONS: Nutritional intervention potentially plays a major role in reducing the progression of CKD and systemic complications of predialysis patients. A low-protein diet (LPD) ensuring vegetable protein intake and a reduced amount of specific micronutrients should be recommended to stage 3/4 CKD patients in order to ameliorate metabolic profile, renal outcome, and reduce cardiovascular risk factors.

Glutamine supplementation favors weight loss in nondieting obese female patients. A pilot study.

Glutamine supplementation improves insulin sensitivity in critically ill patients, and prevents obesity in animals fed a high-fat diet. We hypothesized that glutamine supplementation favors weight loss in humans. Obese and overweight female patients (n=6) were enrolled in a pilot, cross-over study. After recording anthropometric (that is, body weight, waist circumference) and metabolic (that is, glycemia, insulinemia, homeostatic model of insulin resistance (HOMA-IR)) characteristics, patients were randomly assigned to 4-week supplementation with glutamine or isonitrogenous protein supplement (0.5 g/KgBW/day). During supplementation, patients did not change their dietary habits nor lifestyle. At the end, anthropometric and metabolic features were assessed, and after 2 weeks of washout, patients were switched to the other supplement for 4 weeks. Body weight and waist circumference significantly declined only after glutamine supplementation (85.0±10.4 Kg vs 82.2±10.1 Kg, and 102.7±2.0 cm vs 98.9±2.9 cm, respectively; P=0.01). Insulinemia and HOMA-IR declined by 20% after glutamine, but not significantly so. This pilot study shows that glutamine is safe and effective in favoring weight loss and possibly enhancing glucose metabolism.

[Splenic pseudoaneurysms following acute pancreatitis]. / Gli pseudoaneurismi splenici conseguenti a pancreatite acuta.

Splenic artery pseudoaneurysms are the most common of visceral artery pseudoaneurysms. Splenic pseudoaneurysms appear to have developed as a consequence of inflammatory processes adjacent to the splenic artery, particularly acute pancreatitis and chronic pancreatitis with associated pseudocysts. They are often asymptomatic and picked up on abdominal examination for ultrasound or CT scanning for other conditions. Complications include rupture with retroperitoneal hemorrhage or intraperitoneal hemorrhage. Two cases of splenic pseudoaneurysms, following acute pancreatitis, are reported between the years 1987 and 1996.

[Treatment of parastomal colostomy hernia]. / Il trattamento delle ernie pericolostomali.

BACKGROUND: Parastomal hernias are the most common cause of in patients surgically with stomy reoperation treated. METHODS: Treatment of parastomal hernias has been faced through two kind of technics: the first one consisted in the translocation of colostomy, the second one was placing around the colostomic hole a marlex mesh which was inserted at muscular structure level. From January 1993 to May 1997 we treated 8 patients affected by paracolostomic hernia associated to laparocele. The laparocele was treated according Rives' technique with the prosthesis positioned in the properitoneal site. The parastomal hernia was treated with translocation of the colostomy in 3 cases; in the other patients a plastic surgery of the colostomic orifice was made using polypropylene little bandages in properitoneal site. RESULTS: In the postoperative period the complications concerned a single case of skin parcellar necrosis, that healed spontaneously with medications and a case of prolonged serous secretion the mean follow-up was 2 years from the wound. CONCLUSIONS: In our experience the use of marlex mesh may be effective in treatment of parastomal hernia only a patient treated with translocation of the stoma showed a recurrence of parastomal hernia. The positioning of the prosthesis at properitoneal level is subject to a lower incidence of recurrent parastomal hernia.

[Adenocarcinoma of the cecal appendix]. / L'adenocarcinoma dell'appendice cecale.

The authors report one rare case of primary adenocarcinoma of the vermiform appendix. The patient, an 83 year old female, presented with a non-pathognomonic symptomatology; diagnosis was made postoperatively. Surgery consisted of appendicectomy. The patient, due to her poor general condition, died three days after surgery for cardiocirculatory complications. In the light of the very rare case published in the literature, some diagnostic, anatomic-clinical, therapeutic and prognostic aspects of this rare tumor are discussed.

[Complications after total thyroidectomy in thyroid carcinoma]. / Complicanze post-tiroidectomia totale per carcinoma della tiroide.

Authors report the postoperative complication rate in 52 patients who had undergone total thyroidectomy for cancer between 1984 to 1989. Total thyroidectomy has been performed in 9.8% of patients surgically treated for nodular thyroid pathology. Patients age average 49 years in a range 16-75; they were 49 women and 3 men. In 50% of cases we found papillary cancer, follicular in 40%, medullary 4% and anaplastic 6%. We shared postoperative complications in two mean groups: 1) aspecific complications as cardiocirculatory failure, respiratory failure, wound infections or collections, granulomas, keloids; 2) surgery related complications such as hypocalcemia, dysphagia, recurrent++ paralyses. The first group, we noticed just one case of respiratory mechanical failure due to severe tracheomalacia that required a temporary tracheostomy performed at the end of surgical procedure; we did not notice any death due to cardio-circulatory or respiratory failure, nor did we notice any postoperative hemorrhage; one patient presented a wound seroma, two patients presented granulomas due to subcutaneous stitches, and three developed papulous drug-induced erythema. The second group, eight patients developed a transient hypocalcemia beginning on the second postoperative day, without relevant tetanic crisis, well treated by calcium administration; only two of these patients developed permanent hypoparathyroidism. In 3 cases we had to perform exeresis of a laryngeal inferior nerve involved by the cancer, while in 5 more cases we noticed a transient monolateral paralysis that disappeared in 2 or 3 months. Three patients presented dysphagia before intervention and healed post-surgery.(ABSTRACT TRUNCATED AT 250 WORDS)

[Prognostic factors in neoplasms of the upper 2/3 of the stomach compared to the lower 1/3. Our experience]. / Fattori di prognosi nelle neoplasie dei 2/3 superiori dello stomaco rispetto a quelle del 1/3 inferiore. Nostra esperienza.

The choice of the type of surgical treatment used in gastric cancer, in cases where it is possible to operate in relation to the extent of cancer, raises the question of whether the surgeon should perform a total exeresis of the organ, even in cases where the tumour is located in the 3rd distal of the stomach. A retrospective study was carried out on patients admitted to the Surgical Department of the University of Perugia between January 1963 and December 1988. Having rejected 123 cases because of incomplete data or insufficient follow-up, 1.140 cases were selected from a total of 1.263 patients. The sites of neoplasia were as follows: terminal esophagus: 1.76% of cases; cardia: 6.67%; fornix of the stomach: 9.37%; the body of the stomach and lesser curvature: 23.65%; body of the stomach (other portions): 10.07%; angulus: 3.63%; gastric antrum: 37.82%, pylorus: 4.45%; the remaining 2.58% showed a diffuse form involving two or more the above parts. The subdivision of the cases into stages, using the TNM classification, revealed the following groupings: 7.04% of patients were first observed at stage I, 20.70% at stage II, 42.04% at stage III and 30.20% at stage IV. From the above figures it is evident that radical surgical was indicated only in some of the patients observed. The prognostic factors examined in the comparative study of different tumour sites were: age, sex, macroscopic and histological tumour type, size, infiltration of neoplasia through gastric wall coat, lymph node and/or systemic diffusion.(ABSTRACT TRUNCATED AT 250 WORDS)

[Enamel mineralization in rats subjected to an excess fluoride diet: SEM study]. / Mineralizzazione dello smalto in ratti sottoposti a dieta iperfluorica: studio al MES.

Aim of our present work is to investigate with the SEM the process of enamel mineralization in the lower incisors of albino rats submitted for 21 days (a single amelogenetic cycle) to an hyperfluoric diet (five folds more than the normal). Our observations were performed on specimens fractured 8, 12 and 16 mm from the cervical loop transversally along the major axis of the incisor. It was demonstrated that the three different phases of enamel maturation were slower, so that, when the incisor erupted, mineralization was not completed and localized areas of demineralization were present. The authors are of the opinion that all morphological changes are dependent on the effect of fluoride on ameloblasts, either during their secretory or modulatory phases. On the basis of our results attention is pointed on the possible lesions of the enamel dependent from an unwary fluoride administration, particularly when decidual teeth are still present.

[Our experience with early gastric cancer]. / La nostra esperienza in tema di early gastric cancer.

Gastric cancer has always required surgical therapy since in the majority of cases at the moment of treatment symptoms are already at an advances stage. Over the past years many advances have been made in the early diagnosis of many forms of neoplasia, but the rate of progress has been much slower with regard to gastric cancer. Only the preventive and regular use of gastroscopy will allow the disease to be diagnosed at a non-advanced stage. The term early gastric cancer is used to describe a carcinoma which only infiltrates the mucosa, or the mucosa and submucosa, irrespective of lymph node or other metastases. The present study was based on a retrospective analysis of cases of stomach cancer observed in the Surgical Department of the University of Perugia from January 1963 to December 1988. A total of 1,263 patients were affected by cancer of the stomach during the above period. One hundred and twenty-three cases were not included because of incomplete data or insufficient follow-up. A total of 1,140 patients were therefore included in the study; of these only 99 cases were affected by early gastric cancer. Age, sex, earlier gastric diseases, life styles, familial occurrence of disease, and symptomatology were among the different parameters evaluated. In addition, the site of disease, diagnostic methods, pre- and post-operative staging, intramural diffusion of the disease and surgical treatment were taken into account. In older cases the 5-year survival rate was calculated, whereas in more recent cases statistical methods, based on accumulated data, were used to estimate survival rates.(ABSTRACT TRUNCATED AT 250 WORDS)

[Use of synthetic resin cases for the scanning electron microscopic study of the kidney tubule system]. / L'uso di stampi con resine sintetiche per lo studio al M.E.S. del sistema tubulare del rene.

Aim of our present work was to investigate a new method to study the three-dimensional arrangement, the length and the diameter of the different parts of the renal tubules. The ureter was cannulated after blocking the urinary flow with a binding of the ureter itself at its intermediate third, and injected in it against flow a synthetic resin (Mercox) normally used for vascular corrosion casts. It was demonstrated that the binding maintained only for 24 hours is adequate for morphological studies of the urinary tracts from papillar ducts until the Henle's loop. On the contrary the binding maintained for 7 days induced marked changes in the tubular architecture similar to the first anatomo-pathological changes of the nephrosclerosis following a chronic obstructive nephropathy.

[Afferent loop syndrome as an epiphenomenon of neoplasms of the gastric stump]. / La sindrome dell'ansa afferente come epifenomeno della neoplasia del moncone gastrico.

A clinical case is the basis for a report on the possibility that afferent loop syndrome might present as an epiphenomenon in gastric stump cancer. Stress is laid above all on the rarity of the syndrome and on the clinical and diagnostic difficulties of demonstrating it. The possibility that it might be a pointer to a pathology of greater clinical importance is pointed out.