Benign infantile familial convulsions

Five infants, three girls and two boys, first had convulsions between the ages of 4 and 6 months. Although the aetiology of the attacks was unknown, all the infants had a family history of similar convulsions occurring at the same age and having a benign outcome. The attacks, which always occurred in a cluster, were promptly controlled, in four cases with phenobarbital and in one case with valproate. Seizures were partial with secondary generalization and were characterized by head and eye deviation (not always the same side in each attack) diffuse hypertonia and then bilateral limb jerks. The interictal EEG was normal. The ictal EEG showed diffuse discharge with onset in the central-occipital region. Laboratory, radiological and neurological findings were normal. A history in at least one paternal relative (the father in four cases) of similar seizures, occurring at the same age suggested a genetic predisposition. No seizures or EEG anomalies were observed during the follow up.     

Psychological Effects of Vertical Banded Gastroplasty on Pathologically Obese Patients

For a period of 2 years the authors have examined on 16 pathologically obese patients the psychological effects of the weight loss resulting from vertical banded gastroplasty. At the time of surgery the patients' average age was 41 years. The patients' average weight of 125.9 kg (range 110-150 kg) decreased after surgery to 89 kg, showing a decrease of 36.9 kg (range 20-69 kg). The postoperative compliance has been good despite the fact that the remaining gastric capacity allows for the ingestion of only 50-70 ml of food. Psychological results, obtained through consultations, semi-structured interviews and a series of tests, brought to light remarkable changes directly proportional to the weight loss achieved. Psychic well-being, self-esteem, and improvements in the interpersonal relations within the family and work environments represent in summary the positive results of the weight loss achieved by patients with no other possibility (voluntary) to keep their food intake under control (which we termed ‘food addiction’). The patients abandon their depressive traits and achieve a degree of confidence that preserves them from stress and anxiety. Patients improve their social mobility, and for many the sexual relations with the partner become more frequent and intense. The weight loss plays an indispensable role within itself but additionally is associated with a general normalization of all physical parameters. Also, it starts an avalanche of positive events which break the vicious cycle: aesthetic inadequacy-anxiety/depression-food-excess weight.     

Weight Gain in a Sample of Patients Affected by Overweight/Obesity with and without a Psychiatric Diagnosis during the Covid-19 Lockdown

The present study aimed at identifying psychological and psychosocial variables that might predict weight gain during the COVID-19 lockdown in patients affected by overweight/obesity with and without a psychiatric diagnosis. An online survey was administered between 25 April and 10 May 2020, to investigate participants’ changes in dietary habits during the lockdown period. 110 participants were recruited and allocated to two groups, 63 patients had no psychiatric diagnosis; there were 47 patients with psychiatric diagnosis. ANOVA analyses compared the groups with respect to psychological distress levels, risk perception, social support, emotion regulation, and eating behaviors. For each group, a binary logistic regression analysis was conducted, including the factors that were found to significantly differ between groups. Weight gain during lockdown was reported by 31 of the participants affected by overweight/obesity without a psychiatric diagnosis and by 31 patients with a psychiatric diagnosis. Weight gain predictors were stress and low depression for patients without a psychiatric diagnosis and binge eating behaviors for patients with a psychiatric diagnosis. Of patients without a psychiatric diagnosis, 60% reported much more frequent night eating episodes. The risk of night eating syndrome in persons affected by overweight/obesity with no psychiatric diagnosis should be further investigated to inform the development of tailored medical, psychological, and psychosocial interventions.     

Relative Validity of an Italian EPIC Food Frequency Questionnaire for Dietary Factors in Children and Adolescents. A Rizzoli Orthopedic Institute Study

Dietary factors play a major role in the development of non-communicable diseases, however little is known regarding the impact of nutrition on rare diseases like sarcomas. This Rizzoli Orthopedic Institute study aimed to evaluate the relative validity of a Food Frequency Questionnaire (FFQ) to measure the consumption of foods in comparison with a 3-days diary diet in a healthy Italian student population aged between 12 and 17 years. An extended version (including food groups for children) of the semi-quantitative FFQ used in the European Prospective Investigation into Cancer and Nutrition (EPIC) was administered. The validity of the FFQ was assessed by comparing the intakes from the FFQ against the 3-day diary method. 254 Italian subjects were included in the analyses: 128 females; 126 males; 116 from High Secondary School (14–17 years); 138 from Low Secondary School (12–13 years). Mean and median intakes are overall higher in the FFQs than in the food diaries. Spearman correlations adjusted for within-person variability were highest for legumes, vegetables and coffee/tea (>0.5), followed by potatoes, meat, fruits, breakfast cereals, biscuits and candies, and milk/yoghurts (>0.4). Moderate correlations were found for alcoholic drinks, soft drinks, juices, and grains (>0.3). For some food groups, such as fish, potatoes, and bread, correlations tend to become higher when stratifying the analyses for age group. These results demonstrate that the adapted EPIC COS FFQ validated in Italian adults is also appropriate and well understood by Italian children and adolescents.     

Urinary excretion of glycosaminoglycans in patients with isolated nocturnal enuresis or combined with diurnal incontinence

OBJECTIVE: To determine variations in the amount of glycosaminoglycans (GAGs) excreted by patients with nocturnal enuresis and/or diurnal incontinence. PATIENTS, SUBJECTS AND METHODS: The study included 27 patients (aged 5-15 years) with nocturnal enuresis and/or diurnal incontinence, and 27 healthy age-matched children. Their urinary GAG excretion was assessed over 24 h using the sodium tetraborate-carbazole method. RESULTS: Patients with nocturnal enuresis and/or diurnal incontinence had higher mean values of urinary GAG excretion than age-matched controls. There were significant differences in GAG excretion between those with nocturnal enuresis and diurnal incontinence and those with nocturnal enuresis alone. CONCLUSIONS: GAG excretion in patients with nocturnal enuresis and/or diurnal incontinence was significantly higher than in normal children, suggesting that measuring urinary GAGs may be useful in evaluating physiopathological conditions of the bladder wall, and hence in monitoring potential damage in the bladder mucosa.     

Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome

AIMS: To evaluate the effect of the administration of growth hormone on stature, body weight, and body composition in children aged between 4 and 10 years with Prader-Willi syndrome. METHODS: Height, weight, and skinfold thickness were recorded in 25 children using standard anthropometric techniques at recruitment, and six months later, shortly before the start of daily subcutaneous injections of growth hormone. Body composition was assessed via a measurement of total body water using stable isotopes. Measurements were repeated at the end of the six months of growth hormone administration. Measurements of height, weight, and skinfold thickness were expressed as standard deviation scores (SDSs). RESULTS: There was a significant reduction in the percentage of body fat after growth hormone treatment; height velocity doubled during treatment; body weight did not change significantly when expressed as an SDS. Skinfold thickness at both the triceps and subscapular site decreased in absolute terms and when expressed as an SDS. CONCLUSIONS: These results indicate sufficient potential benefit to justify a more prolonged trial of growth hormone treatment and an exploration of different dosage regimens in children with Prader-Willi syndrome.     

Public attitudes regarding willingness to participate in medical research studies

The recruitment of adequate numbers of people to participate in medical research studies is an ongoing problem for biomedical researchers. Although the general public has come to expect and demand that the biomedical community develop new, safe and effective approaches to the prevention and treatment of diseases, that same public is not aware of the important role that public participation plays in the development of medical advances. Much is known about willingness to participate in research studies from the perspectives of patients, survivors, and those at-risk for getting a particular disease. However, little is known about the attitudes and willingness of the general public to participate in medical research. Yet, it is this population that comprises the potential pool of participants for future treatment and prevention studies. In order to examine public attitudes toward and support for medical research, a random digit dial telephone survey was conducted with 489 persons in southwestern Pennsylvania. The survey measured the respondent's stated willingness to take part in a medical research study and the factors associated with willingness to participate. These included the respondent's health status, demographic characteristics, attitudes and beliefs about participation and their knowledge about the conduct of medical research. The results of the study indicate that 46% of those surveyed said that they would be willing to take part in a medical research study focusing on a new treatment for a specific disease that was of concern to them, 25% stated that they would not be willing and 29% stated that they were undecided regarding participation. However, under certain circumstances, such as having cancer, over half of those who were undecided said they would be willing to participate. The characteristics of those willing to participate in a medical research study differ from those not willing. Determinants of willingness include: having a relative or friend who has an illness, being middle aged (between 35-64 years old), prior experience with participation in a medical research study, having a favorable attitude toward the use of human subjects in medical research and beliefs that diverse types of persons participate in clinical trials. Those respondents who were undecided about joining a clinical trial, also have different characteristics than those who are not willing. The determinants of being undecided in contrast to not willing include: having at least a college degree, having a favorable or neutral attitude toward the use of humans in medical research and, believing that the well-being of participants is the primary concern of researchers. The findings of this study have both public policy and practice implications. From a policy perspective, medical research designed to develop new treatments for disease requires an evidenced-based approach for decision making. Such an approach can only succeed if adequate numbers of individuals are willing to participate in these studies. From a practice perspective, the current study suggests that opportunities exist to increase participation by targeting recruitment efforts not only toward the willing but also toward those who are undecided about participation in medical research studies. This would involve tailoring the content of communications to meet the specific characteristics and concerns of each of these two groups of individuals.     

Modifications of Intestinal Permeability Test Induced by Biliopancreatic Diversion: Preliminary Results

Background: Biliopancreatic Diversion (BPD), excluding the jejunum and part of the ileum from the transit of the food, reduces the absorptive intestinal area available to 250 cm of the distal ileum. The Intestinal Permeability Test (IPT) with Lactulose/Mannitol is performed to assess the intestinal mucosa function. The aim of this study was to investigate the effect of intestinal anatomical modifications induced by BPD on IPT in a group of severely obese patients. Methods: Group A: 18 severely obese subjects who underwent BPD; the IPT was performed before (T_o) and 8.2 ± 0.9 days after BPD (T₁). Group B: nine subjects of Group A; IPT was repeated 96.1 ± 12.7 days (T₂) and 180.4 ± 19.7 days (T₃) after BPD, respectively. IPT was expressed as the %Lactulose/%Mannitol ratio in the urine collected during 5 h after oral administration (normal %L/%M < 0.04). Results: Data from Group A (paired Student's t-test) exhibited significantly higher values in T₁ with respect to T₀ for %L/%M (p < 0.05) and for %L (p < 0.05), and significantly lower values in T₁ with respect to T₀ (p < 0.001) for %M. In the Group B analysis of Variance from T₀-T₁-T₂-T₃ resulted statistically significant (p < 0.05) for %L/%M and %M. Conclusions: The reduction of intestinal absorption surface induced by BPD causes a significative increase of the Lactulose/Mannitol IPT values, showing an intestinal mucosa function impairment. The IPT values improve progressively at 3 and 6 months after this surgical procedure.     

Oxygen-induced retinopathy in the newborn rat: effects of hyperbarism and topical administration of timolol maleate

Background: Lesions resembling those of human retinopathy of prematurity can be provoked in newborn Wistar rats by exposure to an FiO₂ of 80% for the first 5 days of life followed by 5 days recovery under room-air conditions. Methods: We evaluated the effects of moderate hyperbarism (+60.75 kPa, i.e. 455 mmHg or 0.6 atm) and topical administration of 0.25% timolol maleate on oxygen-induced retinopathy (OIR) in this experimental model. Results: OIR (including neovascularization in most cases) was observed in 100% of the retinas of normobaric oxygen-reared ratlings that did not receive timolol. OIR was less frequent in oxygen-reared ratlings treated with hyperbarism (60%) or timolol (65%). Hyperbaric oxygen supplementation combined with timolol treatment during both the hyperoxic and room-air phases reduced the incidence of OIR to 30%. There was no sign of vasoproliferation in any of the retinas from the latter three groups. Conclusions: The highly significant protective effects of hyperbarism and timolol observed in this study are not fully understood. We speculate that vasoconstriction induced by the hyperbarism reduces the amount of oxygen that reaches the retina from the choroid during O₂ supplementation, while an increased ocular perfusion pressure caused by timolol-induced reduction of the intraocular pressure might decrease the stimulus to vasoproliferation that normally occurs with room-air recovery.