scholarly journals Williams syndrome (syndrome of idiopathic hypercalcemia)

2012 ◽  
Vol 93 (2) ◽  
pp. 337-339
Author(s):  
R A Fayzullina ◽  
N K Shoshina ◽  
R M Galimova ◽  
T B Moroz
Keyword(s):  
Body Weight ◽  
Williams Syndrome ◽  
Muscle Tone ◽  
Genetic Material ◽  
Careful Analysis ◽  
Psychomotor Development ◽  
Lim Kinase ◽  
Lim Kinase 1 ◽  
History Of ◽  
Unusual Shape

Williams syndrome was first described in 1961 by J.C.P. Williams et al. The population frequency is 1:7500-10 000 live births; the ratio of boys and girls is about 1:1. The nature of this genetic disease is the loss of genetic material (microdeletion) of the long arm of chromosome 7. During microdeletion the loss of elastin, LIM-kinase-1 and replication factor C2 (RFC) genes occurs, some of the «lost» genes have not yet been identified. A more rare form of the syndrome exhibits deletions on chromosomes 11 and 12 - 11q13-q14, and 22q. Presented was the authors’ clinical observation. A child was born from the second pregnancy (the first one ended in miscarriage at 12 weeks of the term), which had a physiological course, first childbirth was given at the term of 40 weeks, the newborns body weight at birth was 2600 g, body length 49 cm. At 1 year 8 months the baby’s height was 80 cm, body weight was 10 kg 800 g, head circumference - 50 cm, chest circumference - 51 cm. Multiple stigmas of dysembryogenesis were present. The head was irregularly shaped, the large fontanelle was closed. A marked face dysmorphism: a broad forehead, the unusual shape of the eyes with swelling around them, epicanthal fold, drooping full cheeks, the characteristic shape of the nose with a rounded blunt end and anteriorly open nostrils, a small pointed chin, a large open mouth, full lips, especially the lower one, progeny, small teeth, jagged, and affected by caries. The thorax was narrow, a depressed sternum in the form of a «сobbler’s chest». The muscle tone was moderately reduced. The psychomotor development at the level of a 8-9 months old. Cardiologist’s conclusion: a congenital heart defect, hypoplasia of the isthmus of the aortic arch. Conclusion of the geneticist: multiple stigmas of dysembryogenesis, a characteristic phenotype. Karyological analysis 46,XY - without karyotype abnormalities. Chromatography of the amino acids - without any pathology. Diagnosis: Williams syndrome. Diagnosis of Williams syndrome sometimes possesses known difficulties. The described clinical case illustrates the possibilities of diagnosing the syndrome, based primarily on a careful analysis of the medical history, of the clinical picture and physical examination.

Inefficient Search of Large-Scale Space in Williams Syndrome: Further Insights on the Role of LIMK1 Deletion in Deficits of Spatial Cognition

Perception ◽  
10.1068/p6050 ◽  
2009 ◽  
Vol 38 (5) ◽  
pp. 694-701 ◽  
Author(s):  
Alastair D Smith ◽  
Iain D Gilchrist ◽  
Bruce Hood ◽  
May Tassabehji ◽  
Annette Karmiloff-Smith
Keyword(s):  
Spatial Cognition ◽  
Williams Syndrome ◽  
Large Scale ◽  
Genetic Disorder ◽  
Search Space ◽  
Scale Space ◽  
Chromosome 7 ◽  
Small Scale ◽  
Lim Kinase ◽  
Lim Kinase 1

Williams syndrome (WS) is a genetic disorder associated with impairments of spatial cognition. This has primarily been studied in small-scale space, and rarely in large-scale environments. In order to fully characterise the spatial deficits in WS, and also to address claims that the deletion of LIM-kinase 1 (LIMK1) on chromosome 7 is responsible for those deficits, we report an automated large-scale search task for humans that places the participant egocentrically within the search space. Search locations were defined as lights and switches embedded in the floor, and participants attempted to locate a hidden target by pressing the switch at potential locations. We compared individuals with WS to patients with smaller deletions (including LIMK1) in the critical region on chromosome 7. Whilst partial-deletion participants performed efficiently on the task, participants with WS demonstrated inefficient search profiles: their search slopes were steeper and they made significantly more erroneous revisits to previously inspected locations. Our findings indicate that spatial deficits associated with WS also affect large-scale spatial processing and suggest that hemizygous deletion of LIMK1 is not sufficient to account for any of the spatial deficits associated with WS.

Architecture of the X Chromosome, Expression of LIM Kinase 1, and Recombination in the agnostic Mutants of Drosophila: A Model for Human Williams Syndrome

2004 ◽  
Vol 40 (6) ◽  
pp. 605-624 ◽  
Author(s):  
E. V. Savvateeva-Popova ◽  
A. I. Peresleni ◽  
L. M. Scharagina ◽  
A. V. Medvedeva ◽  
S. E. Korochkina ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
X Chromosome ◽  
Lim Kinase ◽  
Lim Kinase 1

Insulin Dosage Adjustments After Initiation of GLP-1 Receptor Agonists in Patients With Type 2 Diabetes

2021 ◽  
pp. 089719002199362
Author(s):  
Mandy Chen ◽  
Etty Vider ◽  
Roda Plakogiannis
Keyword(s):  
Type 2 Diabetes ◽  
Body Weight ◽  
Insulin Therapy ◽  
Basal Insulin ◽  
Insulin Dose ◽  
Retrospective Chart Review ◽  
Insulin Dosage ◽  
History Of ◽  
Bolus Insulin

Background: Combination of insulin and GLP-1RAs have shown reductions in the HbA1c, body weight, and the risk of hypoglycemia. To date, there are conflicting data regarding the effect of GLP-1RAs on insulin dosage(s). Objective: The objective of this study was to evaluate adjustments of insulin doses upon initiation of GLP-1RAs. Methods: This was a retrospective chart review of patients on insulin therapy initiated on GLP-1RAs at NYU Langone Health. Patients were included in the study if they were at least 18 years of age, history of type 2 diabetes, and were on concurrent basal or mixed insulin therapy. 45 patients met inclusion criteria and were included in the study analysis. The primary endpoint was the median change in overall basal insulin doses. Secondary endpoints included median changes in total basal, mixed, and bolus insulin doses, oral antidiabetic medications and GLP-1RA doses, HbA1c, body weight, fasting glucose, and creatinine clearance. Safety results included any adverse reactions to insulin and/or GLP-1RA. Results: In the per-protocol analysis, there was a significant reduction in overall total basal insulin doses from baseline to week 24 (50 units vs. 44 units, p < 0.05). There was a median reduction in patients receiving glargine (50 units vs. 44 units) and detemir (29 units vs. 21.5 units). Conclusions: Use of GLP-1RAs after 24 weeks resulted in a statistically significant reduction in overall total basal insulin dosages from baseline. The median HbA1C in our patient population was >8%. Consider a ≥10% reduction in the overall basal insulin dose upon initiation of GLP-1RA in patients with a HbA1C >8%.

scholarly journals The natural history of Canavan disease: 23 new cases and comparison with patients from literature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Annette Bley ◽  
Jonas Denecke ◽  
Alfried Kohlschütter ◽  
Gerhard Schön ◽  
Sandra Hischke ◽  
...  
Keyword(s):  
Severity Score ◽  
Canavan Disease ◽  
Psychomotor Development ◽  
Rank Test ◽  
First Year ◽  
Study Cohort ◽  
Pooled Data ◽  
Kaplan Meier ◽  
History Of ◽  
First Year Of Life

Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compared with data of CD patients reported in three prior large series. Kaplan Meier survival analysis including log rank test was performed for pooled data of 82 CD patients (study cohort and literature patients). Results Onset of symptoms was between 0 and 6 months. Psychomotor development of patients was limited to abilities that are usually gained within the first year of life. Macrocephaly became apparent between 4 and 18 months of age. Seizure frequency was highest towards the end of the first decade. Ethnic background was more diverse than in studies previously reported. A CD severity score with assessment of 11 symptoms and abilities was developed. Conclusions Early hallmarks of CD are severe psychomotor disability and macrocephaly that develop within the first 18 months of life. While rare in the first year of life, seizures increase in frequency over time in most patients. CD occurs more frequently outside Ashkenazi Jewish communities than previously reported. Concordance of phenotypes between siblings but not patients with identical ASPA mutations suggest the influence of yet unknown modifiers. A CD severity score may allow for assessment of CD disease severity both retrospectively and prospectively.

Camus's Absurd and the World of Melville's Confidence-Man

PMLA ◽  
1967 ◽  
Vol 82 (1) ◽  
pp. 14-27
Author(s):  
Leon F. Seltzer
Keyword(s):  
Careful Analysis ◽  
The Other ◽  
The Novel ◽  
The Past ◽  
The World ◽  
Critical Attention ◽  
Confidence Man ◽  
Ugly Duckling ◽  
History Of ◽  
The One

In recent years, The Confidence-Man: His Masquerade, a difficult work and for long an unjustly neglected one, has begun to command increasingly greater critical attention and esteem. As more than one contemporary writer has noted, the verdict of the late Richard Chase in 1949, that the novel represents Melville's “second best achievement,” has served to prompt many to undertake a second reading (or at least a first) of the book. Before this time, the novel had traditionally been the one Melville readers have shied away from—as overly discursive, too rambling altogether, on the one hand, or as an unfortunate outgrowth of the author's morbidity on the other. Elizabeth Foster, in the admirably comprehensive introduction to her valuable edition of The Confidence-Man (1954), systematically traces the history of the book's reputation and observes that even with the Melville renaissance of the twenties, the work stands as the last piece of the author's fiction to be redeemed. Only lately, she comments, has it ceased to be regarded as “the ugly duckling” of Melville's creations. But recognition does not imply agreement, and it should not be thought that in the past fifteen years critics have reached any sort of unanimity on the novel's content. Since Mr. Chase's study, which approached the puzzling work as a satire on the American spirit—or, more specifically, as an attack on the liberalism of the day—and which speculated upon the novel's controlling folk and mythic figures, other critics, by now ready to assume that the book repaid careful analysis, have read the work in a variety of ways. It has been treated, among other things, as a religious allegory, as a philosophic satire on optimism, and as a Shandian comedy. One critic has conveniently summarized the prevailing situation by remarking that “the literary, philosophical, and cultural materials in this book are fused in so enigmatic a fashion that its interpreters have differed as to what the book is really about.”

LIM kinase-1 in the cerebral ganglion of Drosophila with genetic disturbances of kynurenine balance

2008 ◽  
Vol 418 (1) ◽  
pp. 1-3 ◽  
Author(s):  
N. G. Lopatina ◽  
T. G. Zachepilo ◽  
E. V. Savvateeva-Popova
Keyword(s):  
Cerebral Ganglion ◽  
Lim Kinase ◽  
Lim Kinase 1

scholarly journals LIM kinase 1 serves an important role in the multidrug resistance of osteosarcoma cells

2017 ◽  
Author(s):  
Jian‑Zeng Yang ◽  
Li‑Hong Huang ◽  
Rui Chen ◽  
Ling‑Jie Meng ◽  
Yi‑Yao Gao ◽  
...  
Keyword(s):  
Multidrug Resistance ◽  
Osteosarcoma Cells ◽  
Lim Kinase ◽  
Lim Kinase 1

Williams Syndrome: Features in Late Childhood and Adolescence

PEDIATRICS ◽  
1987 ◽  
Vol 80 (1) ◽  
pp. 85-91
Author(s):  
Roberta A. Pagon ◽  
Forrest C. Bennett ◽  
Beverly LaVeck ◽  
Katherine B. Stewart ◽  
Jennifer Johnson
Keyword(s):  
Williams Syndrome ◽  
Motor Skills ◽  
Behavioral Characteristics ◽  
Childhood And Adolescence ◽  
Older Children ◽  
Performance Expectations ◽  
Reading Abilities ◽  
History Of ◽  
Overall Performance ◽  
Visual Motor

Nine children with the Williams syndrome were evaluated for physical, neurodevelopmental, and behavioral characteristics to record the natural history of this disorder. The study subjects, who ranged in age from 10 years to 20 years, generally showed lower than expected cognitive functioning with four of the nine functioning in the severely retarded range. However, all the children showed uneven developmental profiles, compared to measured IQ, with reading abilities exceeding the expected level and visual-motor skills deficient for overall performance expectations. All but one child had evidence of supravalvular aortic stenosis on echocardiography, but there was little morbidity from cardiovascular disease in this group of patients. Although all had grown at or below the fifth percentile in early childhood, seven now were above the fifth percentile for height. Personality attributes that characterize younger children with Williams syndrome persisted in this group of older children.

Abstract P178: Dairy Consumption and Risk of Becoming Overweight or Obese in Middle-Aged and Older Women.

Circulation ◽  
2014 ◽  
Vol 129 (suppl_1) ◽  
Author(s):  
Susanne Rautiainen ◽  
Lu Wang ◽  
I-Min Lee ◽  
JoAnn E Manson ◽  
Julie E Buring ◽  
...  
Keyword(s):  
Body Weight ◽  
Dairy Products ◽  
Smoking Status ◽  
Health Study ◽  
High Fat ◽  
Low Fat ◽  
Dairy Intake ◽  
Dairy Consumption ◽  
History Of

Background: Dairy products have been positively associated with weight loss and inversely associated with weight gain. However, limited number of studies has investigated the role of dairy consumption in the prevention of becoming overweight or obese. The aim of this study was to prospectively investigate how consumption of dairy products was associated with the risk of becoming overweight or obese among initially normal-weight women. Methods: We studied 19,180 women aged ≥45y from the Women’s Health Study free of cardiovascular disease (CVD), cancer, and diabetes with an initial body mass index (BMI) of 18.5-<25 kg/m 2 . Dairy intake was assessed through a 131-item food-frequency questionnaire. Total dairy intake was defined as the sum of servings per day of low-fat dairy products (skim/low-fat milk, sherbet, yogurt, and cottage/ricotta cheese) and high-fat dairy products (whole milk, cream, sour cream, ice cream, cream cheese, other cheese, and butter). Women self-reported body weight along with obesity-related risk factors on baseline and annual follow-up questionnaires. In multivariable-adjusted analyses, we included the following covariates: baseline age, randomization treatment, BMI, smoking status, vigorous exercise, postmenopausal status, postmenopausal hormone use, history of hypercholesterolemia, history of hypertension, multivitamin use, alcohol intake, total energy intake, and fruit and vegetable intake. Results: During a mean follow-up of 11.2y (216,979 person-years), 8,582 women became overweight or obese (BMI ≥25 kg/m 2 ). The multivariable-adjusted mean changes in body weight (95% confidence interval (CI)) during the follow-up were 3.9 (3.5-4.3), 3.9 (3.5-4.2), 3.8 (3.5-4.2), 3.7 (3.4-4.1), and 3.4 (3.0-3.7) lbs in quintiles 1-5 of total dairy consumption (P-trend: 0.01), respectively. In multivariable-adjusted analyses (Table 1) , women in the highest versus lowest quintile of had a rate ratio (RR) of 0.91 (0.84-0.98, P-trend: 0.16) of becoming overweight or obese. No associations were observed in highest quintiles of low-fat dairy and high-fat dairy intakes. Conclusion: Greater consumption of dairy products may be inversely ssociated with risk of becoming overweight or obese in women.

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