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Cytogenetic studies carried out in a boy with multiple congenital anomalies showed a partial deletion of the long arm of chromosome 18. The child later developed an extraskeletal Ewing's sarcoma. The possible association of the tumour with 18q- syndrome is discussed. [ABSTRACT FROM PUBLISHER]

Little is known about genetic predisposition to relapse. Previous studies have linked cognitive and psychopathological (mainly schizophrenia and bipolar disorder) polygenic risk scores (PRS) with clinical manifestations of the disease. This study aims to explore the potential role of PRS from major mental disorders and cognition on schizophrenia relapse. 114 patients recruited in the 2EPs Project were included (56 patients who had not experienced relapse after 3 years of enrollment and 58 patients who relapsed during the 3-year follow-up). PRS for schizophrenia (PRS-SZ), bipolar disorder (PRS-BD), education attainment (PRS-EA) and cognitive performance (PRS-CP) were used to assess the genetic risk of schizophrenia relapse.Patients with higher PRS-EA, showed both a lower risk (OR=0.29, 95% CI [0.11-0.73]) and a later onset of relapse (30.96± 1.74 vs. 23.12± 1.14 months, p=0.007. Our study provides evidence that the genetic burden of neurocognitive function is a potentially predictors of relapse that could be incorporated into future risk prediction models. Moreover, appropriate treatments for cognitive symptoms appear to be important for improving the long-term clinical outcome of relapse., Competing Interests: Conflict of interest A. Ibáñez has received research support from or served as speaker or advisor for Janssen-Cilag, Lundbeck and Otsuka. A. Gonzalez-Pinto has received grants and served as consultant, advisor or CME speaker for the following entities: Janssen-Cilag, Lundbeck, Otsuka, Pfizer, Sanofi-Aventis, Exeltis, the Spanish Ministry of Science and Innovation (CIBERSAM), the Ministry of Science (Carlos III Institute), and the Basque Government, J. Saiz-Ruiz has been as speaker for and on the advisory boards of Adamed, Lundbeck, Servier, Medtronic, Casen Recordati, Neurofarmagen, Otsuka, Indivior, Lilly, Schwabe, Janssen and Pfizer, outside the submitted work. M. Bernardo has been a consultant for, received grant/research support and honoraria from, and been on the speakers/advisory board of ABBiotics, Adamed, Angelini, Casen Recordati, Janssen-Cilag, Menarini, Rovi and Takeda, Pilar A. Saiz has been a consultant to and/or has received honoraria or grants from Adamed, CIBERSAM, European Comission, Government of the Principality of Asturias, Instituto de Salud Carlos III, Janssen-Cilag, Lundbeck, Otsuka, Pfizer, Plan Nacional Sobre Drogas and Servier. R. Rodriguez-Jimenez has been a consultant for, spoken in activities of, or received  grants from: Instituto de Salud Carlos III,  Fondo de Investigación Sanitaria (FIS), Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid Regional Government (S2010/ BMD-2422 AGES; S2017/BMD-3740), JanssenCilag, Lundbeck, Otsuka, Pfizer, Ferrer, Juste, Takeda, Exeltis, Casen-Recordati, Angelini. The rest of the authors reported no biomedical financial interests or potential conflicts of interest., (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)

Objective: To find the characteristics of paediatric referrals to the referral hospital., Design: An epidemiological study of a crossover type., Setting: Two paediatric clinics at an urban Health Centre., Patients and Other Participants: A consecutive sample of 384 referrals during 1992., Measurements and Main Results: 3.94% of patients were referred. Nursing babies were the most commonly referred group. The commonest diagnostic groups were: congenital anomalies (25.5%), Neurology and sense organs (24%) and Respiratory Pathology (15.9%). The clinics to which patients were most commonly referred were: Traumatology (25.5%), Ophthalmology (21.4%) and ENT (21.4%). 80.6% of the Traumatology referrals were for congenital anomalies. 72.9% were referred for confirmation of the diagnosis. 56.8% came from on-demand consultations and 43.2% from appointments. 84.6% were of a normal character. In 27.3% there was a written report from the specialist., Conclusions: Congenital anomalies made by the most frequently referred diagnostic group; and Traumatology the most consulted specialty. There was a low instance of referral at the patient's own request. There was a high number of patients referred from among patients with appointments. There was scant information from the specialist to the Paediatrician.

Objective: To assess the scheduled Paediatrics programme through the health problems cared for and the characteristics of care, evolution and follow-up., Design: Descriptive study of a crossover type., Setting: Two Paediatrics clinics in the "Soria Norte" Health Centre., Patients: A non-probabilistic consecutive sample of 143 children under 10 during 1992., Main Results: Average age was 3.69 +/- 2.97 years old. The commonest diagnostic groups were: Groups XVI (26.9%), III (18%), IX (9.6%), V and X (both 8.4%). 83% of the children were not following a procedure, 23% were being monitored by a specialist at the same time and 8% were referred. 36% of those with problems were following a treatment and 51% evolved for the better., Conclusions: The commonest problems are those which are badly defined and endocrine-metabolic ones. The problems where procedures were observed and the patients who followed through some treatment both made up low percentages. It is therefore important both to watch out for problems and to follow procedures more strictly.

Background: The diet of school aged children constitutes one of the basic pillars on which the health of an individual may be placed. The influence of the parents in dietary habits of children is absolute. The aim of the present study was to analyze what hygienic-cultural aspects of the familial environment are most linked to the diet of school children., Methods: A study of non paired cases and controls was carried out in 48 children of 6-7 years of age (cases) with maximum consumption of cold meats and minimum consumption of vegetables and lettuce (universe = 131 children) versus a double control group of 34 children with inverse dietary patterns and 83 children who did not fulfill inclusion criteria of cases. Personal cleanliness and washing habits, attitudes towards television viewing, parental consumption of cigarettes and alcohol and sex education were also analyzed., Results: Multivariant analysis identified a smoking father as a risk factor of worse diet (OR = 3.3, p = 0.016), with sex education received at home being associated with a decrease of 70% in the probability of having a bad diet (OR = 0.3, p = 0.016) on using the restricted control group. The smoker father was the only circumstance associated to bad diet on including the remaining children of the universe as controls (OR = 2.6, p = 0.018)., Conclusions: The diet of school children seems to be related with the global attitude of the family with regard to health. Smoking habit of the father may represent a negative marker of food preferences with regard to quality of diet.

Objective: To assess the results of check-ups carried out on children when putting into practice the Programme for Healthy Children and various screenings., Design: Crossover, descriptive study of the check-ups of healthy children carried out over a year (January to December, 1991)., Setting: Primary Care: the Pediatric Clinics of Soria Norte Health Centre, Soria., Patients: All the children who had one or more check-ups during the study period., Measurements and Main Results: The check-ups identified 0.78 problems per child. The greatest number of problems were found in the 15 day check-up, due to perinatal pathologies, followed by those at ages 3 and 6. The number of problems/number of check-ups relationship is 0.79 in children under 2 and 1.42 in those over 2. The problems occurring most often correspond to groups XV1, X1V and X11 (WONCA CIPSAP 11 Code). Groups V and V1 problems occurred most often at the ages when specific screenings were carried out., Conclusions: A high percentage of problems are found when checking healthy children, although many of them have very little clinical implication. The introduction of screening procedures at these check-ups assists the early identification of illnesses among this sector of the population.

Objective: To evaluate compliance with dietetic treatment and its influence on levels of cholesterol and lipoproteins in hypercholesterolaemia in young children, over a period of two years., Design: A descriptive longitudinal study., Setting: Two paediatric clinics at the "Soria Norte" Health Centre., Patients: 47 patients between 3 and 10 years old, with overall cholesterol levels > 185 mg/dl and C-LDL > 110 mg/dl., Measurements and Main Results: 51% of the children correctly followed the dietetic advice given and at the 6 months follow-up showed an overall decrease in cholesterol and C-LDL. This decrease was less significant at a year from the start of the treatment., Conclusions: Diet is an efficacious treatment of hypercholesterolaemia in children. However, it is difficult to maintain over a long period.

Objective: To discover the paediatric demand at a child health clinic (CHC) and its hourly spread. Based on this, to see if the attendance of paediatricians is justified during the hours covered by the CHC. To evaluate, too, whether consumers properly use the CHC., Design: Descriptive, crossover, non-random study., Setting: Primary Care., Participants: All children under 14 attended at Soria's urban Primary Care centre between 31 January and 31 March, 1991, by the paediatricians and general practitioners., Measurements and Main Results: Paediatricians attended 49.8% of the consultations, which covered 17.7% of the weekly opening-time. Nine per cent of children were breast-fed. The most common reasons for attending were: temperature (48%) and cough (20%). The most common diagnoses were tonsillitis (29.4%), Acute Respiratory Infection (16%) and otitis (12.3%). Emergency treatment was given in 4.5% of cases. Prescriptions were given for 94.7% of cases and 1.6% were referred to hospital., Conclusions: Paediatric demand is to a high degree occasioned by infectious, respiratory and ENT conditions. The proportion of referrals to hospital and the application of treatment in the Primary Care centre indicate insufficient use by the consumer. On the basis of the present study, we are unable to determine whether the presence of paediatricians is justified or not.