Search

Afin de comprendre le syndrome d'immunodéficience humaine acquise et son traitement, il est important de connaître la structure des virus de l'immunodéficience humaine et leurs mécanismes de réplication dans les cellules infectées, particulièrement les phases cibles des antirétroviraux. La notion de variabilité, qui permet à ces virus d'échapper à l'immunité et aux thérapeutiques antirétrovirales, est tout aussi capitale. In order to understand acquired human immunodeficiency syndrome and its treatment, it is important to know the structure of human immunodeficiency viruses and their replication mechanisms in infected cells, particularly the target phases of antiretroviral drugs. Equally important is the concept of variability, which allows these viruses to evade immunity and antiretroviral therapy. [ABSTRACT FROM AUTHOR]

Objective To evaluate the effect of 25 (OH) vitamin D supplementation on blood pressure (BP) variability in hypertensive women in the pre-menopausal and post-menopausal periods. Materials and methods 881 hypertensive women prospectively followed for an interventional study between January 2016 and September 2017, in specialized consultation at the department of internal medicine at the Blida University Hospital (Algeria). Four hundred and thiry nine premenopausal women (group I) and 442 menopausal women (group II). The initial serum 25 (OH) D level for each group was determined by the enzyme immunoassay. In groups I and II, we identified 2 subgroups, A: insufficiency (vit D between 29 and 20 ng/ml) and B: deficiency (vit D less than 20 ng/L). Antihypertensive therapy was supplemented with an additional 200000 IU/month cholecalciferol for the two B subgroups. The variability in BP was calculated as the ratio of mean systolic and diastolic BP during daytime and nighttime, with performing ambulatory BP measurement at baseline, 3, 6, and 12 months of follow-up. Results At inclusion, the level of 25 (OH) D was lower ( P < 0.05) in subgroups IB (19.3 ± 8.5 ng/ml) and IIB (18.2 ± 9, 5 ng/ml) compared to subgroups IA (28.1 ± 10.7 ng/ml) and IIA (25.2 ± 10.1 ng/ml). After supplementation, the level of 25 (OH) D increased in subgroup IB (38.3 ± 11.9 ng/ml) and in subgroup IIB (37.3 ± 10, 5 ng/ml) and became higher ( P < 0.001) than in subgroups IA and IIA. Between subgroups IA and IB, at inclusion, there is no difference ( P > 0.05) in the SBP and DBP variability during the day and at night. After treatment, the variability of the SBP at night became lower ( P < 0.02) in group IB compared to group IA. In subgroup IIB, daytime variability indices were higher ( P = 0.04) at inclusion than in group IIA. After treatment, the variability of SBP during the day decreased but remained the highest ( P < 0.05) in subgroup IIB (14.8 ± 10.8 mmHg) compared to subgroup IB (12.0 ± 8.1 mmHg), as well as to subgroups IIA (10.9 ± 9.8 mmHg) and IA (10 ± 8.1 mmHg). We found a significant correlation of cholecalciferol with the variability of SBP during the day. Conclusions Vitamin D deficiency appears to be a factor of BP variability. Although the variability of the postmenopausal group remains higher than that of the other groups, the correction of the level of 25 (OH) D by the supply of cholecalciferol 200000 IU per month leads to a reduction in the variability of BP in the studied hypertensive women could help to prevent morbimortal complications. [ABSTRACT FROM AUTHOR]

The Acheulean of the southern Iberian Peninsula is markedly similar to the north African Acheulean. However, the characteristics of the stone tool assemblages are heterogeneous and represent complex cultural phenomena. From MIS 15, the lithic assemblages in fluvial (Guadiana, Guadalquivir and Guadalete rivers), fluvio-lacustrine (Solana del Zamborino) and karstic (Cueva del Ángel, Bolomor, Cueva Negra del río Quípar, Cueva Horá and Santa Ana) contexts exhibit analogies and technical differences representative of a phenomenon of multiplicity. Contributing to this phenomenon is the perception of technological stasis or conservatism of the Acheulean technocomplex and the different technical responses articulated by hominins to achieve equivalent results. These equivalences generate the uniformity that allows us to recognise typologies of large cutting tools (LCTs) regardless of the lithic materials used or the organisational structures of the operational sequences. These diversified typologies include handaxes, picks, and cleavers, which maintain a consistent presence despite innovations such as the Levallois flaking method. In some cases, the presence of cleavers and spheroids affects the range of represented typologies. Beneath the uniformity of the handaxes, lie organisational differences in the operational sequences. The changes and differences in the use of flakes to shape handaxes, the representation of cleavers and diversification of shaped-tool typologies all suggest differential cultural behaviours linked in part to divergent contexts. These aspects indicate that this multiplicity is related to diffusion, adaptation and cultural changes produced at the margins of the conservatism of this technocomplex. Observed changes could indicate inter-group cultural replacements, most of which retained a similar techno-typological diversity to that seen in the north African Acheulean until MIS 5. Cyclical climate change during the Middle Pleistocene affected the Strait of Gibraltar, regulating its function and conditioning the circulation of hominins and affecting cultural interactions between southern Iberian groups. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: The present observational study reports the results of a multi-institutional dummy-run designed to estimate the consistency of interobserver variability in clinical target volume delineation in two different cases of soft-tissue sarcomas in which postoperative and preoperative radiotherapy were prescribed, respectively. The purpose of this work was to quantify interobserver variability in routine clinical practice. Patients and methods: Two different cases of soft-tissues sarcomas were chosen: a case of postoperative and a case of preoperative radiation therapy. Participating centres were requested to delineate clinical target volumes according to their experience in both cases. Descriptive statistic was calculated for each variable (volume, diameters) separately for two cases. Box-whiskers plots were used for presentation of clinical target volume. A Shapiro-Wilk's test was performed to evaluate the departures from normality distribution for each variable. The comparison between relative variations of diameters was evaluated using the Student's t test. Results: Several variations affecting both volumes and diameters were observed. Main variations were observed in the craniocaudal and laterolateral diameters. Each case showed similar dispersion, indicating a lack of reproducibility in volumes definition. Conclusions: This observational study highlighted that, in the absence of specific instructions or guidelines, the interobserver variability can be significant both in postoperative and preoperative radiotherapy of soft-tissue sarcomas. [Copyright &y& Elsevier]

Résumé: La place des industries paléolithiques chinoises par rapport à celles des autres régions de l’Ancien Monde est depuis longtemps un objet de controverse. Les analyses typologiques ont permis aux préhistoriens chinois de montrer l’existence d’une variabilité entre les industries lithiques de différentes régions de la Chine en termes de traditions techniques et de structures. Mais cette reconnaissance, basée sur des caractères morphologiques, n’est pas à même de définir systématiquement les modes de production existant sur chaque site. Envisager ces questions nécessite un recours à de nouvelles méthodes. Ainsi le matériel lithique provenant de 8 sites chinois datés d’environ 300 000ans à 50 000ans est ici sélectionné et analysé au moyen d’une analyse technologique et d’une nouvelle approche d’analyse structurale des nucléus. Cette étude présente principalement les résultats de l’analyse des modes de débitage, et montre que les modes de débitage de cette période en Chine se caractérisent essentiellement par la présence des système C (débitage simple) et E (discoïde) et que le concept Levallois est absent des systèmes techniques de production lithique chinois (les industries chinoises ayant livré le concept Levallois sont Shuidonggou et Jinsitai, mais elles sont datées du Paléolithique supérieur récent). Les industries lithiques chinoises entre 300 000ans et 50 000ans témoignent d’une unité à l’échelle du continent et d’une différence marquée par rapport aux autres régions du monde. Donc une évolution stable et continue, mais indépendante ou isolée des autres continents est constatée pour cette période. En outre, malgré cette apparente homogénéité, une réelle variabilité existe également entre ces différents sites chinois. [ABSTRACT FROM AUTHOR]

Summary: Introduction: The purpose on this work was to analyze the interest to use a walkway GAITRite® to assess the progress of stroke patients who received treatment with botulinum toxin in the lower limb. Methods: Ten healthy subjects and 21 patients were registered on the system during eight walking test at free velocity. They were tested one week before and then six weeks after the injection. The spatiotemporal parameters were measured, gait variability and asymmetry of the locomotor pattern calculated. Conclusion: This protocol allow us to distinguish patients from control subjects on all parameters measured. Toxin injections affect walking velocity, time support, asymmetry and variability between the two members. No differences were observed on the step length and swing time. [ABSTRACT FROM AUTHOR]

Abstract: In the 1990s, the variability of responses to human immunodeficiency virus (HIV) could only be tracked by phenotypic criteria such as the number of CD4T lymphocytes, the occurrence of opportunistic infection, the disease free survival without treatment. In 1996, the viral load is the leading phenotype for genetic studies. Ever since, thanks to a better understanding of the HIV infection pathophysiology, numerous studies helped to highlight the influence of genetic variability on inter-individual response to this virus. Among the genes having an impact, we can quote the following examples: CCR5, HLA-B and HLA-C genes. Practical applications of genetics in clinical medicine include search for HLA-B*57:01 before abacavir introduction. Recently, an eradicating treatment for HIV disease after bone marrow transplantation with a donor homozygote for a CCR5 gene non-functional variant (CCR5Δ32) has been reported. Interest in genetics of chronic viral infection is not specific to HIV. It has also been used on other viral diseases and it has gained a major place on the management of diseases. [Copyright &y& Elsevier]

Abstract: We report the 2 cases of schizophrenic patients with clozapine treatment and particularly, we underlined a reduced variability and low short-term variability, whereas biophysical ultrasound score, Dopplers and perception of fetal movements were acceptable and comfortable concerning the fetal vitality. Our aim is to show the limits of the analyzed fetal heart rate under clozapine. So, we may change our observation of fetus in chronic suffering that is usually mainly made with an informatics analysis of pregnants under clozapine. [Copyright &y& Elsevier]

Abstract: In the current state of the debate about the Paleolithic in Europe the analysis of the transitional periods is one of the principal subjects. The accumulation of variable elements in time can determine a change in the technical systems from a more or less wide transitional phase. This paper will analyze the records of the North Plateau of the Iberian Peninsula for its chronology and/or for its technology as they are candidates for representing a transitional phase between the technological Modes 2 and 3 and will relate to the European context. This analysis will focus on support in the need to separate technological phenomena, transitions and the variability determined by the different spaces of occupation, the utilization of raw materials with unequal qualities and the functions of the site. [Copyright &y& Elsevier]

Copyright of European Review of Applied Psychology is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: The variability of one of the oldest known proboscideans, Numidotherium koholense from the Lower Eocene of El Kohol, Algeria, is here examined. The biometrical study of the jugal teeth shows that the population is homogeneous and corresponds to a single species. The important variations of the skull''s shape are interpreted as resulting from sexual dimorphism. The dental variability is analysed and discussed from an evolutionary perspective regarding the adaptative radiation of the proboscidean order at the beginning of the Tertiary. [Copyright &y& Elsevier]

Abstract: Aim: The aim of our study was to make evident the huge variability in lymph node dissection practice. Material and methods: Therefore a retrospective study was conducted on 330 patients assessed for cervical, axillary or groin dissections. In each case the authors collected the primary diagnosis and clinical stage indicating lymph node clearance, identity of the surgeon and the pathologist, surgical technique including skin incision and landmarks of tissue removal, size of the clearance, and number of lymph nodes removed. Correlations between diagnosis, surgeon''s or pathologist''s identity, size of the clearance and number of nodes were analyzed using non-parametric tests. Results: Standardized procedures as axillary dissections occurred few differences between surgeons. In groin or cervical dissections statistical differences were made evident with great technical variability. There was a positive correlation between size of the piece of lymphadenectomy and number of lymph nodes removed. Conclusion: Standardized procedures as axillary dissections provide few variations. Cervical and especially groin dissections should be harmonized, published and taught harmoniously in schools of surgery. So the expression “regional lymph node clearance” would mean. [Copyright &y& Elsevier]

Abstract: Based on the lithical material from Umm el Tlel VI 3 a’ level, the goal of this study is to show the importance and the potentiality of the technological approach, in general, and of studies about central Syria, in particular. First, description of the archaeological and scientific context will be made, following by the technological study. This one results in a differing production in space and time, with at least three distinct “chaînes opératoires”. [Copyright &y& Elsevier]

Résumé: La colchicine est surtout prescrite dans le traitement de la crise de goutte mais son indication a été étendue à d''autres maladies inflammatoires, comme la fièvre méditerranéenne familiale. Trois protéines jouent un rôle majeur dans sa pharmacocinétique : son récepteur, la tubuline, qui conditionne sa demi-vie d''élimination sanguine, le CYP3A4 intestinal et hépatique qui joue un rôle essentiel dans la biotransformation de la colchicine et la P-glycoprotéine, pompe de détoxication cellulaire qui régule sa distribution tissulaire et son élimination biliaire et rénale. La détermination de ses concentrations plasmatiques par radio-immunologie a permis de définir ses paramètres pharmacocinétiques. Son absorption par voie orale est très variable (de 24 à 88 % de la dose administrée), sa distribution est très importante (7 l/kg) alors que la liaison à l''albumine est modérée ; son élimination est principalement hépatique et sa demi-vie d''élimination varie de 20 à 40 heures. Lors de son administration réitérée, le niveau d''équilibre est atteint en huit jours avec des concentrations variant de 0,3 à 2,5 ng/ml pour des posologies de l''ordre de 1 mg/j. L''étude des relations pharmacocinétique–pharmacodynamique montre que les effets de la colchicine ne sont pas corrélés aux concentrations plasmatiques mais à celles du compartiment intraleucocytaire. L''apparition d''effets secondaires n''est pas rare, notamment lorsqu''elle est associée à des médicaments capables d''interagir avec le CYP3A4 et/ou la P-glycoprotéine, provoquant alors une diminution de la clairance hépatique et/ou rénale. Le suivi thérapeutique de la colchicine lors de ces circonstances permet de prévenir l''apparition de ces effets toxiques. [Copyright &y& Elsevier]

Abstract: Anthracotheres of late Middle Miocene and Late Miocene age have been described from several localities in northern Africa, all of them currently assigned to the genus Libycosaurus Bonarelli, although in several previous works they were assigned to Merycopotamus Falconer and Cautley, a considerably younger and specialised form from the Indian subcontinent which has quite different dental and cranial morphology. Three species of Libycosaurus have been named, but there has been some doubt about the morphometric variation within the various species, with some authors such as Gaziry (1987) placing the fossils from Sahabi (Latest Miocene, Libya) and Beglia (end Middle Miocene to basal Late Miocene, Tunisia) into the same species despite marked size differences, and others (Ducrocq et al., 2001) creating a species for a restricted sample of small specimens from Nementcha (Late Middle Miocene, Algeria), but which overlaps with the range of size variation of Beglia fossils. The aim of this paper is to examine the available samples in greater depth in order to understand the morphometric variation in these anthracotheres. It is confirmed that the Beglia sample is quite variable (Black, 1972), both morphologically and metrically, but it is concluded that it nevertheless belongs to a single species, because specimens from some of the localities within the Beglia Formation (e.g. Loc. 17 in the lower levels at Beglia) span the entire range of variation (Pickford, 1994). The sample from Nementcha cannot be distinguished from the Beglia sample on any consistent metric or morphological basis, but in general the specimens fall at the low end of the range of variation of the Beglia sample. It is thus likely that L. algeriensis is a synonym of L. anisae. The Sahabi and Chad samples (L. petrocchii), in contrast, fall above the known range of variation of the Beglia material in almost all metric features, but are close to it morphologically, and they are considered to represent a species distinct from the Beglia sample. [Copyright &y& Elsevier]

Copyright of EMC-Podologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of IBS, Immuno-analyse & Biologie Specialisee is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction. – The variability of the normal ground reaction force (F(z)) is a restrictive factor for the clinical analyse of kinetics parameters recorded during walking.Objective. – The aim of this study is the decrease of the inter-individual variability of the normal ground reaction force: F(z).Material and method. – The method tested consists in imposing a similar speed to the subjects during walking tests, then to class foot according to their function: loading or propulsive foot. A group of seven young adults walk at spontaneous speed (VSpon) for the first walking test then at similar speed (Vsim=>NFr·√ of g·li; where NFr is the Froud’s number, g is the gravitational acceleration and li is the length of the lower limb) for the second walking test. Two forces platforms register the F(z) of two consecutive steps. The normal ground reaction force and the mean coefficient of variability are retained to test for speed (VSim and VSpon) and functional classification effects.Results. – The CoV of F(z) decreases from 13% to 8% when the subjects walk at similar speed rather than at spontaneously chosen speed. The variability decreases by 1–1.5% when the data are classified according to functional criterion. The inter-individual variability of the F(z) significantly reduces when the tests are performed at similar speed and when the loading or propulsive factors are used for functional classification.Conclusion. – The coupling of the methods described must permit to the clinician to constitute a data base which, tainted of less variability, should make easier the detection of pathology affecting the ground reaction force. [Copyright &y& Elsevier]

Objective. – To assess the effect of age and speed on the variability of ground reaction forces (GRF) and stride parameters of gait in normal children.Material and method. – Forty-seven children aged 4–10 years were split into three age groups. Each child walked at three constant speeds on a treadmill. Thirty consecutive steps of each leg were recorded. For each child, the mean parameters of the 30 steps were calculated. The mean parameter of each child was taken to calculate the mean parameters of the group. The variability was evaluated by the coefficient of variation (CV). The influence of both age and speed on the variability was examined with a to-way analysis of variance.Results. – The cross effect of age and speed on the variability was not significant. The variability of the parameters decreased significantly with age between 4 and 8 years. The variability of vertical forces increased significantly with speed (between 2.7 and 4.5 km/h), while the variability of antero-posterior forces, the stride and the stance decreased between 2.7 and 3.6 km/h. However, the variability of double stance was not influenced by walking speed between 2.7 and 4.5 km/h. Except the time of production of the vertical force of propulsion (Tz3), the variability of temporal vertical parameters decreased significantly with speed between 2.7 and 4.5 km/h and the variability of temporal antero-posterior parameters decreased significantly between 2.7 and 3.6 km/h.Discussion–conclusion. – The variability of the GRF and spatio-temporal parameters in children was influenced by age between 4 and 8 years old and by speed between 2.7 and 3.6 km/h. Moreover, the effect of age on the GRF persists up to 8 years. The variabilities of the time of production of the antero-posterior force of propulsion (Ty2) and stance duration were lower than the variabilities of the others parameters. These two variables could be the most reliable parameters when assessing gait in children aged 4–10 years, walking at speeds between 2.7 and 4.5 km/h. [Copyright &y& Elsevier]

Ultrasonography Doppler in the assessment of arterial peripheral circulation.Purpose. – The ultrasonography-Doppler study of peripheral arterial circulation requires measurements of arterial area and arterial blood flow. The aim of this study was to assess their variabilities, intra- and interobserver.Methods. – We studied brachial arterial circulation of 13 volunteers. Two experimented investigators carried out the examinations. Arterial blood pressure measurements were obtained at the level of the brachial artery of the left arm by means of a semi automated oscillometric device. The brachial artery was approached by ultrasound scan in semi-decubitus position, the arm in exterior rotation and abduction. Brachial artery cross-sectional areas were obtained by a transversal view with a depth of 4–15-cm upstream the antecubital fossa of the forearm. Cross sectional areas were measured at end diastole (SD) and end systole (SS). We measured maximal systolic and diastolic velocities (Vmax and Vmin), mean velocity (Vmoy) and velocity integral (ITV) of the blood flow. We deduced brachial output (D), resistance and pulsatility index (IR, IP), cross-sectional compliance coefficient (C).Results. – Intra- and interoperator variability as assessed by the Bland–Altman approach was acceptable SS, SD, ITV, D, Vmax , Vmoy, Vmin C, IR, and IP, in regard with values of variation coefficient, biais, and concordance limits.Conclusion. – Conventional B-mode ultrasonography may offer a reliable method for arterial peripheral circulation evaluation. [Copyright &y& Elsevier]

Introduction La variabilité de la marche représente les fluctuations des paramètres spatiotemporels (PST) d’un pas à l’autre. C’est un indicateur sensible des déficits moteurs et de contrôle de l’équilibre dynamique. Le Gait Variability Index (Gouelle et al., 2013), dérivé de neuf PST, a été proposé pour améliorer la quantification de la variabilité de la marche. L’objectif est d’étudier l’index chez des patients cérébrolésés, à vitesse spontanée, puis rapide. Matériel et méthodes Vingt-neuf patients patients cérébrolésés (âge = 65 à 80 ans) et 29 sujets contrôles ont été enregistrés sur un tapis GAITRite ® , à vitesse spontanée, puis rapide. L’évaluation clinique de l’équilibre était réalisée par la Berg Balance Scale et le Rivermead Mobility Index. Résultats Aucune différence n’était retrouvée entre les conditions de marche spontanée et rapide chez les sujets contrôles (GVI : 87,9 ± 11,6 vs. 89,4 ± 12,8). À l’inverse, 20 patients cérébrolésés ont montré une variabilité moindre (GVI plus grand) à vitesse rapide, avec pour 14 d’entre eux une amélioration de la la symétrie spatiale et/ou temporelle de leur marche. Seuls 3 patients ont présenté à la fois une détérioration de la variabilité et de la symétrie à vitesse rapide. Aucune relation n’a été identifiée avec les tests cliniques. Discussion–conclusion Nos résultats montrent que, contrairement à une idée communément admise, la marche rapide n’influence pas négativement la stabilité dynamique du patient cérébrolésé, en accord avec les études montrant que la vitesse confortable de marche n’est pas une vitesse lente. Il semble que lors de l’examen, nombre de patients portent davantage leur attention à la qualité de leur marche au détriment de l’efficience. [ABSTRACT FROM AUTHOR]

Summary: Objective: To analyse the inter-trial variability of the GT3X over a range of physical activity intensities. Methods: Eight GT3X were assessed during two trials. Repeated measured Anova [trial x condition (rest, sit-stand, 4, 6, 8 and 10km/h)], intra-class correlation coefficients (ICC) and the Bland-Altman method were performed. Results: High ICC values were found. Differences between trials were found in sit-stand in all axes and at 4km/h in Y, X-axis and VM. Conclusion: GT3X presented good trial reliability, although results suggested that is not a good monitor to assess sedentary behaviour or physical activity levels in sedentary population. [ABSTRACT FROM AUTHOR]

Abstract: Seasonal flu is caused by influenza viruses A and B. These enveloped viruses have a genome made up of seven or eight RNA fragments. The different subtypes are determined by the nature of the two surface glycoproteins HA and NA. Seasonal flu is an epidemic wintertime illness occurring in temperate climate zones. Its epidemiology is linked to the great variability of the virus in time, necessitating an alert system that detects dominating circulating variants each year and that determines the vaccination composition. Clinical flu symptoms are not sufficiently specific to allow for diagnosis with virological tests. This is especially true during non-epidemic periods as well as in subjects older than 65 and younger than five. Children are especially vulnerable to influenza virus infections. Hospitalization occurs more frequently, the younger the child. In children younger than two years, the infection can be pauci-symptomatic and is sometimes detected from non-respiratory symptoms such as lethargy, convulsions, and dizziness. In all cases of respiratory syndrome compatible with influenza virus infection in hospitalized subjects, virological flu diagnosis is of utmost interest. Several tools are available to allow for direct viral detection in respiratory specimens: cell culture isolation, antigenic detection, RNA molecular detection. Choice of method is based on the characteristics of the test: sensibility, specificity, speed and ease of realization, and cost. [Copyright &y& Elsevier]

Abstract: Most congenital defects of the hand have a genetic basis, mostly monogenic, especially when they are bilateral. The recent progresses of molecular genetics together with the comprehension of the molecular mechanisms of development have led to identify a growing number of genes whose mutations are implicated in the genesis of hand malformations. When isolated, the mode of inheritance is often autosomal dominant with intrafamilial variability. The hand malformation may be the first manifestation of a more complex syndrome, the other symptoms appearing later in life. Children must be referred to a pediatric and/or genetic clinic in order to perform complementary investigations. [Copyright &y& Elsevier]