Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.

OBJECTIVE: To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature. METHODS: A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al. RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId). CONCLUSIONS: Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.

Gray matter heterotopia: clinical and neuroimaging report on 22 children.

OBJECTIVE: To investigate the clinical characteristics and neuroimaging features of childhood presenting with gray matter heterotopia observed in a single tertiary Pediatric Department in Catania and compare the data with those reported in the literature. METHODS: A retrospectively review of the history, clinical findings, electrophysiological features and magnetic resonance images of 22 children presenting with gray matter heterotopia observed from January 2010 to January 2020. RESULTS: Among the 22 children included in the study, 17 presented with periventricular heterotopia (PVNH), two with Subcortical Band Heterotopia (SBH), and three with other subcortical heterotopia (SUBH). In the affected children, the ages at first diagnosis ranged from 3 months to 16 years with a mean age of 8.2 years (± 5.4); twelve (54.5%) suffered by developmental delay and intellectual deficit; eleven children (50%) complained of epileptic seizures, mostly focal to bilateral tonic-clonic seizure. In addition, in the periventricular heterotopia group (PVNH), cerebral and systemic malformations were reported in twelve (70%) and in ten (58%) children, respectively, out of seventeen. In the SBH plus SUBH group, epileptic seizures were recorded in 3 (60%) out of 5 children, cerebral malformations in one child and systemic malformations in two children. CONCLUSIONS: Heterotopic gray matter malformations include a group of disorders that manifest with a variety of neurological implications, such as cognitive impairment and epilepsy, and often related with epilepsy, other cerebral malformations and systemic anomalies.

Additional constraints in adsorption-desorption kinetics.

In this work, the adsorption-desorption kinetic in the framework of the lattice gas model is analyzed. The transition probabilities are written as an expansion of the occupation configurations. Due to that, the detail balance principle determine half of the adsorption A{i} and desorption D{i} coefficients, consequently, different functional relations between them are proposed. Introducing additional constrains, it is demonstrated that when those coefficients are linearly related through a parameter gamma , there are values of lateral interaction V , that lead to anomalous behavior in the adsorption isotherms, the sticking coefficient and the thermal programmed desorption spectra. Diagrams for the allowed values of V and gamma are also shown. Alternatively, a more reliable formulation for the adsorption desorption kinetic based on the transition state theory is introduced. In such way the equilibrium and non equilibrium observables do not present anomalous or inconsistent behavior.

Ageing, lifestyle modifications, and cardiovascular disease in developing countries.

Developing countries face the double menace of still prevalent infectious diseases and increasing cardiovascular disease (CVD) with epidemic proportions in the near future, linked to demographic changes (expansion and ageing), and to urbanisation and lifestyle modifications. It is estimated that the elderly population will increase globally (over 80% during the next 25 years), with a large share of this rise in the developing world because of expanding populations. Increasing longevity prolongs the time exposure to risk factors, resulting in a greater probability of CVD. As a paradox, increased longevity due to improved social and economical conditions associated with lifestyle changes in the direction of a rich diet and sedentary habits in the last century, is one of the main contributors to the incremental trend in CVD. The variable increase rate of CVD in different nations may reflect different stages of "epidemiological transition" and it is probable that the relatively slow changes seen in developing populations through the epidemiological transition may occur at an accelerated pace in individuals migrating from nations in need to affluent societies (i.e. Hispanics to the USA, Africans to Europe). Because of restrained economic conditions in the developing world, the greatest gains in controlling the CVD epidemic lies in its prevention. Healthy foods should be widely available and affordable, and healthy dietary practices such as increased consumption of fresh fruits and vegetables, reduced consumption of saturated fat, salt, and simple sugars, may be promoted in all populations. Specific strategies for smoking and overweight control may be regulation of marketed tobacco and unhealthy fast food and promotion of an active lifestyle. Greater longevity and economic progress are accompanied by an increasing burden of CVD and other chronic diseases with an important decrease in quality of life, which should question the benefit of these additional years without quality.

Structures of solid and liquid during melting and solidification of indium.

During melting and solidification of polycrystalline indium the structures of the solid and liquid phases were investigated by X-ray diffractometry (XRD) in 1g conditions. The experiments showed that melting is immediately preceded and accompanied by an abnormal increase of vacancy concentration in the solid that enhances the diffusion. At the melting point (T(M)) the lattice planes facing the first formed liquid appear to be [002] and [101]; that is, those planes allocating first and second neighbors around a given atom, with shell radii very close to the mean distance of nearest neighbors in liquid as obtained from the radial distribution function (RDF). On this basis some types of solid-liquid interface (sharp or diffuse) are discussed; the possibility of a sudden texture change in the solid is also considered. On the other hand, the evolution of RDF curve of liquid indium, cooled down through T(M), shows that there are correlations between the structure of the liquid and of the forming solid during solidification. To avoid convective motions in the liquid and to achieve the best experimental conditions, we discuss the possibility of repeating the measurements in microgravity (microg) using thin oxide films as containers. This technique was already successfully tested by one of the investigators in the experiment ES 311 A-B carried out during the mission SPACELAB-1.

Theoretical continuous equation derived from the microscopic dynamics for growing interfaces in quenched media

We present an analytical continuous equation for the Tang and Leschhorn model [Phys. Rev. A 45, R8309 (1992)] derived from their microscopic rules using a regularization procedure. As well in this approach, the nonlinear term (nablah)(2) arises naturally from the microscopic dynamics even if the continuous equation is not the Kardar-Parisi-Zhang equation [Phys. Rev. Lett. 56, 889 (1986)] with quenched noise (QKPZ). Our equation is similar to a QKPZ equation but with multiplicative quenched and thermal noise. The numerical integration of our equation reproduces all the scaling exponents of the directed percolation depinning model.

[Wilson's disease]. / Morbo di Wilson.

Wilson's disease is a rare inherited metabolic disorder usually characterized by liver and/or neurological degeneration. Unlike most genetically transmitted diseases, it rapidly responds to pharmacological treatment in case of early diagnosis and treatment. Often, however, as this disease presents with aspecific symptoms, patients are wrongly diagnosed as psychiatric cases or as having generic chronic liver disease and the true cause of symptoms is only discovered at a much later stage. The authors give a detailed review of the literature with the aim of presenting the most recent research on the main aspects of this disease and offering a practical and simple approach to early diagnosis.

[Insulin resistance in patients with Graves' disease and reduced glucose tolerance. The normalization of fasting insulin secretion in parallel with the restoration of thyroid function]. / Resistenza insulinica in pazienti con malattia di Graves e ridotta tolleranza al glucosio. Normalizzazione della secrezione insulinica a digiuno parallela al riequilibrio della funzione tiroidea.

In order to investigate the nature of impaired glucose tolerance (IGT) in 3 young patients with Graves' disease we have studied their insulin secretion fasting and in response to oral glucose by means of measurement of serum C-peptide. Fasting levels of serum C-peptide of these patients were beyond the range of 15 age-matched normal subjects; the C-peptide/glucose ratio was also significantly higher (p less than 0.001) in the patients than in the controls. Following glucose ingestion serum levels of C-peptide resulted high in the range of normals, with a mean C-peptide/glucose ratio greater than in the controls, but without reaching of statistical significance. To investigate whether the anomaly in fasting insulin secretion of these patients had any correlation with their hyperthyroidism, afterwards we surveyed fasting concentrations of serum C-peptide in parallel with progressive variations of serum free thyroxine and triiodothyronine (FT4 and FT3) and thyrotrophin (TSH) during antithyrotoxic treatment with methimazole. The data of 23 tests on serum FT3 and FT4 levels, carried out during 16-18 months, resulted in significant correlation with contemporaneous measurements of fasting serum C-peptide (p less than 0.001). No significant correlation was found between serum TSH and fasting C-peptide levels. The results suggest that IGT of the patients in this study is not dependent on lacking insulin secretion, but on mild insulin resistance. Such glucose metabolic anomaly appears to be in clear correlation with the degree of hyperthyroidism, even if its pathogenesis remains to be further investigated.

[Correlation between thyroid hypofunction and the presence of circulating antithyroid microsomal antibodies. A phenomenon in the aged, prevalent in women]. / Correlazione tra ipofunzione tiroidea e presenza in circolo di anticorpi antitiroidei microsomiali. Fenomeno della terza età, prevalente nel sesso femminile.

The authors evaluated the existence of serum thyroid microsomal antibodies (anti-TMS) and their correlation, if any, with thyroid function in a group of 120 consecutive patients, who seemed clinically worthy to be studied from that point of view, even if they were lacking of a previous laboratory framing. Present study shows a consistent prevalence (81.8%) of anti-TMS concentrations were not related with any hormone parameter of thyroid function. Instead, the prevalence of anti-TMS positive subjects get to 69% in the 39 over-65 aged patients (32 women) of survey, with a concordance between high anti-TMS concentration and hypothyroidism of 87.5% in the subgroup. In these elderly patients circulating anti-TMS and serum TSH were found directly correlated (p less than 0.001), whereas serum FT4 was found in inverse correlation with the same antibodies (p less than 0.01). The consistent share of hypothyroid-aging patients, although mild or subclinical but clearly related with immunological phenomena, cannot be overlooked.

[Behavior of blood ferritin in acute myocardial infarct]. / Comportamento della ferritinemia nell'infarto miocardico acuto.

Ferritin (F) is an iron-protein (molecular weight 445.000) present in various organs including the heart. Using the immunoenzymatic method (Ferrizyme Abbott), ferritinemia (Fe) was determined daily in 28 patients with acute myocardial infarction (AMI). A significant rise was revealed, already evident in the first few days 8-9 after with Fe gradually returns to baseline levels. The results have shown that this pattern is not evident in patients with angina, heart failure, valve defects, pericarditis or cor pulmonale and may thus be considered a reliable, if not early, marker of myocardial cytolysis. In those cases studied no correlations were observed between CPK and Fe peak or between these and clinical intensity of AMI.

Serum potassium levels, red-blood-cell potassium and alterations of the repolarization phase of electrocardiography in old subjects.

Seventeen elderly patients are described, who showed minor changes in the e.c.g. recovery phase. Serum potassium levels appeared to be normal, but red-blood-cell potassium was found to be more or less markedly reduced. Restoration of the latter to normal values, which followed treatment with potassium salts was also associated with normalization of the e.c.g. pattern. These observations demonstrate that electrolyte disorders, and particularly hypokalaemia, may determine 'minor' alterations of repolarization much more frequently than is usually thought, and that determination of serum potassium levels is not a reliable tool for detecting potassium depletion, which is more accurately reflected by red-blood-cell potassium concentration.