A deterministic walk on the randomly oriented Manhattan lattice

Consider a randomly-oriented two dimensional Manhattan lattice where each horizontal line and each vertical line is assigned, once and for all, a random direction by flipping independent and identically distributed coins. A deterministic walk is then started at the origin and at each step moves diagonally to the nearest vertex in the direction of the horizontal and vertical lines of the present location. This definition can be generalized, in a natural way, to larger dimensions, but we mainly focus on the two dimensional case. In this context the process localizes on two vertices at all large times, almost surely. We also provide estimates for the tail of the length of paths, when the walk is defined on the two dimensional lattice. In particular, the probability of the path to be larger than $n$ decays sub-exponentially in $n$. It is easy to show that higher dimensional paths may not localize on two vertices but will still eventually become periodic, and are therefore bounded.Comment: 18 pages, 12 figure

Mutations in Thyroid Hormone Beta Receptor Gene Identified in Children with Clinical Resistance to Thyroid Hormones

Introduction: Patients with resistance to thyroid hormones(RTH) show different clinical features. Several mutations have been identified in them.Objective:To describe patients followed up since 2006 with RTH suspicion evaluated for mutations in thyroid hormone beta receptor(THRß)gene.Methods:Children were followed up in our Endocrinology Department.Patient 1:10-yr-old boy with elevated T3, T4 and free T4, normal TSH in routine thyroid testing requested for overweight. Patient 2:0.7-yr- old boy with Down syndrome and elevated T3, T4 and free T4, normal TSH.Patient 3:Boy with abnormal results on neonatal screening, with elevated T3, T4, free T4 and TSH.Patient 4:4.7?yr-old girl with elevated T3, T4 and free T4, normal TSH in routine thyroid testing requested for low weight.Patient 5: 1-yr- old boy with elevated T3, T4 and free T4, normal TSH in routine thyroid testing requested for low weight.Patient 6:Boy with congenital hypothyroidism diagnosed by screening with elevated T3, T4, free T4 and TSH.Clinical manifestations:Patients 1, 4 and 5 showed palpitations, tachycardia.Familial antecedents: Patient 3 has two brothers with similar RTH profile. Patient 4 had a sister who died at 3 months of age and mother with confirmed RTH. Patient 6 had an aunt with RTH profile.Thyroid ultrasound. All patients had normal gland size except patient 6 who had an hypoplastic gland. Patient 4 showed goiter at follow up.Treatment:Patient 1 received metimazol; patients 1,4 and 5 beta blockers and patient 6 levothyroxine.Molecular biology analysis: genomic DNA was isolated from blood cells and the exons 7-10 of the THRß gene, including the flanking intronic regions were amplified by PCR. DNA sequences from each amplified fragment were performed with the Taq polymerase-based chain terminator method and using the specific forward and reverse THRß primers. Results.Direct sequence analysis revealed a novel missense mutation in exon 10 in patient 3, c.1329G>T transvertion that results in a p.K443N substitution and two known missense mutations: c.1357C>A, p.P453T (Patient 1)in exon 10 and c.949G>A, p.A317T (Patient 4) in exon 9.Conclusion:THRß gene mutations were found in half of the patients with RTH, including a new mutation.Although goiter is a common feature in RTH, only one patient presented it.These findings support the importance of searching THRßgene mutations in suspected individuals to achieve an adequate follow-up and treatment in patients with RHT.Fil: Gonzáles, Viviana. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Balbi, Viviana A.. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Morin, Analía. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Reinoso, Andrea. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Vitale, Laura. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Ricci, Jaime. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Espósito, Mariela. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Martín, Rodrigo. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Tournier, Andrea L.. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Adrover, Ezequiela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Molina, Maricel Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Rivolta, Carina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaXXVIII Congreso Latinoamericano de Endocrinología PediátricaFlorianópolisBrasilSociedad Latinoamericana de Endocrinología Pediátric

Nocturnal but not Diurnal Hypertension Is Associated to Insulin Resistance Markers in Subjects with Normal or Mildly Elevated Office Blood Pressure

Objective: The aim was to evaluate the relationships among insulin resistance markers and nocturnal and diurnal hypertension in normotensive or mildly untreated hypertensive adults. Methods: The study was performed in both female and male adults referred to the Cardiometabolic Unit of the Hospital San Martín, La Plata, Argentina, in order to perform an ambulatory blood pressure measurement (ABPM) for the evaluation of a possible hypertensive disorder. The population was stratified according to their ABPM in: 1-presence or absence of diurnal hypertension and 2-presence or absence of nocturnal hypertension; both conditions were analyzed separately. Fasting plasma insulin (FPI), homeostasis model assessment of insulin resistance (HOMA-IR), and triglycerides (TG)/high-density lipoprotein cholesterol (HDL-C) ratio were used as surrogate markers of insulin resistance and compared among subjects with vs. without diurnal or nocturnal hypertension. Results: One hundred and five patients, 55 women, 47 (11) years old, and 50 men, 44 (16) years old, were included. Diurnal and nocturnal hypertension were found in 60% and 64% of the sample, respectively. There were no significant differences among the levels of insulin resistance markers between individuals with or without diurnal hypertension. In contrast, individuals with nocturnal hypertension were more insulin resistant irrespectively of whether they were evaluated using FPI (P = 0.016), HOMA-IR (P = 0.019), or TG/HDL-C ratio (P = 0.011); FPI differences remained significant after adjustment for sex, age, and obesity indicators (P = 0.032). Conclusions: Nocturnal but not diurnal hypertension was related to higher levels of 3 insulin resistance markers in normotensive and untreated mildly hypertensive adults; this relationship seems partially independent of obesity.Facultad de Ciencias Médica

Nocturnal but not Diurnal Hypertension Is Associated to Insulin Resistance Markers in Subjects with Normal or Mildly Elevated Office Blood Pressure

Objective: The aim was to evaluate the relationships among insulin resistance markers and nocturnal and diurnal hypertension in normotensive or mildly untreated hypertensive adults. Methods: The study was performed in both female and male adults referred to the Cardiometabolic Unit of the Hospital San Martín, La Plata, Argentina, in order to perform an ambulatory blood pressure measurement (ABPM) for the evaluation of a possible hypertensive disorder. The population was stratified according to their ABPM in: 1-presence or absence of diurnal hypertension and 2-presence or absence of nocturnal hypertension; both conditions were analyzed separately. Fasting plasma insulin (FPI), homeostasis model assessment of insulin resistance (HOMA-IR), and triglycerides (TG)/high-density lipoprotein cholesterol (HDL-C) ratio were used as surrogate markers of insulin resistance and compared among subjects with vs. without diurnal or nocturnal hypertension. Results: One hundred and five patients, 55 women, 47 (11) years old, and 50 men, 44 (16) years old, were included. Diurnal and nocturnal hypertension were found in 60% and 64% of the sample, respectively. There were no significant differences among the levels of insulin resistance markers between individuals with or without diurnal hypertension. In contrast, individuals with nocturnal hypertension were more insulin resistant irrespectively of whether they were evaluated using FPI (P = 0.016), HOMA-IR (P = 0.019), or TG/HDL-C ratio (P = 0.011); FPI differences remained significant after adjustment for sex, age, and obesity indicators (P = 0.032). Conclusions: Nocturnal but not diurnal hypertension was related to higher levels of 3 insulin resistance markers in normotensive and untreated mildly hypertensive adults; this relationship seems partially independent of obesity.Facultad de Ciencias Médica

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy

Nocturnal but not Diurnal Hypertension Is Associated to Insulin Resistance Markers in Subjects with Normal or Mildly Elevated Office Blood Pressure

Objective: The aim was to evaluate the relationships among insulin resistance markers and nocturnal and diurnal hypertension in normotensive or mildly untreated hypertensive adults. Methods: The study was performed in both female and male adults referred to the Cardiometabolic Unit of the Hospital San Martín, La Plata, Argentina, in order to perform an ambulatory blood pressure measurement (ABPM) for the evaluation of a possible hypertensive disorder. The population was stratified according to their ABPM in: 1-presence or absence of diurnal hypertension and 2-presence or absence of nocturnal hypertension; both conditions were analyzed separately. Fasting plasma insulin (FPI), homeostasis model assessment of insulin resistance (HOMA-IR), and triglycerides (TG)/high-density lipoprotein cholesterol (HDL-C) ratio were used as surrogate markers of insulin resistance and compared among subjects with vs. without diurnal or nocturnal hypertension. Results: One hundred and five patients, 55 women, 47 (11) years old, and 50 men, 44 (16) years old, were included. Diurnal and nocturnal hypertension were found in 60% and 64% of the sample, respectively. There were no significant differences among the levels of insulin resistance markers between individuals with or without diurnal hypertension. In contrast, individuals with nocturnal hypertension were more insulin resistant irrespectively of whether they were evaluated using FPI (P = 0.016), HOMA-IR (P = 0.019), or TG/HDL-C ratio (P = 0.011); FPI differences remained significant after adjustment for sex, age, and obesity indicators (P = 0.032). Conclusions: Nocturnal but not diurnal hypertension was related to higher levels of 3 insulin resistance markers in normotensive and untreated mildly hypertensive adults; this relationship seems partially independent of obesity.Facultad de Ciencias Médica

Adaptive enhancement in diffusion MRI through propagator sharpening

In this short note we consider a method of enhancing diffusion MRI data based on analytically deblurring the ensemble average propagator. Because of the Fourier relationship between the normalized signal and the propagator, this technique can be applied in a straightforward manner to a large class of models. In the case of diffusion tensor imaging, a commonly used ‘ad hoc’ min \u3cbr/\u3emin\u3cbr/\u3e-normalization sharpening method is shown to be closely related to this deblurring approach. The main goal of this manuscript is to give a formal description of the method for (generalized) diffusion tensor imaging and higher order apparent diffusion coefficient-based models. We also show how the method can be made adaptive to the data, and present the effect of our proposed enhancement on scalar maps and tractography output

Short-Term Evaluation of the Impact of a Fortified Food Aid Program on the Micronutrient Nutritional Status of Argentinian Pregnant Women

We studied the impact of a food supplementation program (Plan Mas Vida (PMV)) on the micronutrient nutritional condition of pregnant women from low-income families 1 year after its implementation. The food program provided supplementary diet (wheat and maize—fortified flour, rice or sugar, and fortified soup). We performed a prospective, nonexperimental, cross-sectional study in the province of Buenos Aires, Argentina, evaluating pregnant women at baseline (n = 164) and 1 year after PMV implementation (n = 108). Biochemical tests (hemogram, ferritin, vitamin A, zinc, and folic acid), anthropometric assessments (weight and height), and dietary surveys (24 h recall) were performed at the two study points. One year after PMV implementation, no significant changes in anthropometric values were observed. Folic acid deficiency and the risk of vitamin A deficiency (retinol, 20–30 μg/dl) decreased significantly (35.8 to 6.1 % and 64 to 41 %, respectively; p < 0.000). Anemia and prevalence of iron and zinc deficiency values did not change. Diet survey results showed that although nutrient intake increased significantly, it was still below recommendations. Implementation of the PMV and of the government nutritional strategies had a high impact on the prevalence of folic acid deficiency. We also observed a decrease in the risk of vitamin A deficiency, and no impact on iron and zinc nutritional status. Adherence to the specific fortified food (soup) was not good and intra-family dilution and distribution of food was high.Facultad de Ciencias Médica