scholarly journals Delayed Speech and Language in Bardet - Biedl Syndrome

2020 ◽  
pp. 1-2
Author(s):  
Aravinda H R ◽  
◽  
Mohitha Bopaiah ◽  
Keyword(s):  
Genetic Heterogeneity ◽  
Genetic Disorder ◽  
Clinical Spectrum ◽  
Systematic Evaluation ◽  
Many Body ◽  
Speech And Language ◽  
Bardet Biedl Syndrome ◽  
Many Body Systems ◽  
Human Genetic Disorder

Bardet-Biedl Syndrome (BBS) is a human genetic disorder that produces many effects and affects many body systems. The wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. This article includes a case of Bardet- Biedl syndrome in a 2 years 11 months old girl from Hubli, a town in north Karnataka region of India. A detailed speech, language and hearing profile based on systematic evaluation have been highlighted in the present study

Bardet-Bidel Syndrome: A Case Report

2013 ◽  
Vol 12 (3) ◽  
pp. 67-69
Author(s):  
Kamal Hossain ◽  
Md Badruddoza
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Dystrophy ◽  
Learning Difficulties ◽  
Clinical Findings ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Characteristic Features ◽  
Human Genetic Disorder ◽  
And Function

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

scholarly journals Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Tieneka M. Baker ◽  
Erica L. Sturm ◽  
Clesson E. Turner ◽  
Scott M. Petersen
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Bardet Biedl Syndrome ◽  
Variable Expression ◽  
Snp Microarray ◽  
Significant Family History ◽  
First Case ◽  
Novel Approach ◽  
Human Genetic Disorder ◽  
Echogenic Kidneys

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.

Prenatal diagnosis of Bardet-Biedl syndrome: a multidisciplinary approach

2021 ◽  
Vol 14 (1) ◽  
pp. e238445
Author(s):  
Daniela Vila Real ◽  
Rosete Nogueira ◽  
Joaquim Sá ◽  
Cristina Godinho
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Genetic Disorder ◽  
Early Adulthood ◽  
Autosomal Recessive Inheritance ◽  
Bardet Biedl Syndrome ◽  
Incurable Disease ◽  
Whole Exome ◽  
History Of ◽  
Human Genetic Disorder

Bardet-Biedl syndrome (BBS) is a rare ciliopathic human genetic disorder with mainly an autosomal recessive inheritance. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in the absence of family history or consanguinity. We present a prenatal case without a family history of inherited diseases or consanguinity. Mid-trimester ultrasound revealed hyperechogenic kidneys and postaxial polydactyly putting us on track of BBS. The fetopathology supported this diagnosis and the whole-exome sequencing confirmed the hypothesis. Our case illustrates how high-resolution obstetric scan, detailed observation of fetal features and application of gene sequencing technology contribute to elucidate the aetiology of rare, yet disabling and incurable disease, with the particular setting of negative family history.

REGULAR STRUCTURE OF LOW-LYING STATES FOR ATOMIC NUCLEI UNDER RANDOM INTERACTIONS

2008 ◽  
Vol 17 (supp01) ◽  
pp. 304-317
Author(s):  
Y. M. ZHAO
Keyword(s):  
Ground State ◽  
Collective Motion ◽  
Regular Structure ◽  
Positive Parity ◽  
Many Body ◽  
Random Interactions ◽  
Atomic Nuclei ◽  
Many Body Systems

In this paper we review regularities of low-lying states for many-body systems, in particular, atomic nuclei, under random interactions. We shall discuss the famous problem of spin zero ground state dominance, positive parity dominance, collective motion, odd-even staggering, average energies, etc., in the presence of random interactions.

scholarly journals Emergence of a Renormalized 1/N Expansion in Quenched Critical Many-Body Systems

2021 ◽  
Vol 126 (11) ◽  
Author(s):  
Benjamin Geiger ◽  
Juan Diego Urbina ◽  
Klaus Richter
Keyword(s):  
Many Body ◽  
Many Body Systems

scholarly journals Continuous Phase Transition without Gap Closing in Non-Hermitian Quantum Many-Body Systems

2020 ◽  
Vol 125 (26) ◽  
Author(s):  
Norifumi Matsumoto ◽  
Kohei Kawabata ◽  
Yuto Ashida ◽  
Shunsuke Furukawa ◽  
Masahito Ueda
Keyword(s):  
Phase Transition ◽  
Continuous Phase ◽  
Many Body ◽  
Continuous Phase Transition ◽  
Many Body Systems ◽  
Gap Closing

scholarly journals Universal relations for ultracold reactive molecules

2020 ◽  
Vol 6 (51) ◽  
pp. eabd4699
Author(s):  
Mingyuan He ◽  
Chenwei Lv ◽  
Hai-Qing Lin ◽  
Qi Zhou
Keyword(s):  
Critical Role ◽  
Interaction Strength ◽  
Quantum Correlations ◽  
Polar Molecules ◽  
Many Body ◽  
Density Correlation ◽  
Ultracold Polar Molecules ◽  
Unexplored Area ◽  
Many Body Systems

The realization of ultracold polar molecules in laboratories has pushed physics and chemistry to new realms. In particular, these polar molecules offer scientists unprecedented opportunities to explore chemical reactions in the ultracold regime where quantum effects become profound. However, a key question about how two-body losses depend on quantum correlations in interacting many-body systems remains open so far. Here, we present a number of universal relations that directly connect two-body losses to other physical observables, including the momentum distribution and density correlation functions. These relations, which are valid for arbitrary microscopic parameters, such as the particle number, the temperature, and the interaction strength, unfold the critical role of contacts, a fundamental quantity of dilute quantum systems, in determining the reaction rate of quantum reactive molecules in a many-body environment. Our work opens the door to an unexplored area intertwining quantum chemistry; atomic, molecular, and optical physics; and condensed matter physics.

scholarly journals Epidemic growth and Griffiths effects on an emergent network of excited atoms

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
T. M. Wintermantel ◽  
M. Buchhold ◽  
S. Shevate ◽  
M. Morgado ◽  
Y. Wang ◽  
...  
Keyword(s):  
Complex Systems ◽  
Power Laws ◽  
Excitation Density ◽  
Griffiths Phase ◽  
Many Body ◽  
Excited Atoms ◽  
Equilibrium Dynamics ◽  
Many Body Systems ◽  
Excitation Number ◽  
Non Equilibrium

AbstractWhether it be physical, biological or social processes, complex systems exhibit dynamics that are exceedingly difficult to understand or predict from underlying principles. Here we report a striking correspondence between the excitation dynamics of a laser driven gas of Rydberg atoms and the spreading of diseases, which in turn opens up a controllable platform for studying non-equilibrium dynamics on complex networks. The competition between facilitated excitation and spontaneous decay results in sub-exponential growth of the excitation number, which is empirically observed in real epidemics. Based on this we develop a quantitative microscopic susceptible-infected-susceptible model which links the growth and final excitation density to the dynamics of an emergent heterogeneous network and rare active region effects associated to an extended Griffiths phase. This provides physical insights into the nature of non-equilibrium criticality in driven many-body systems and the mechanisms leading to non-universal power-laws in the dynamics of complex systems.

scholarly journals Probing phase transitions of holographic entanglement entropy with fixed area states

2020 ◽  
Vol 2020 (12) ◽  
Author(s):  
Donald Marolf ◽  
Shannon Wang ◽  
Zhencheng Wang
Keyword(s):  
Phase Transitions ◽  
Entanglement Entropy ◽  
Many Body ◽  
Btz Black Hole ◽  
Holographic Entanglement Entropy ◽  
Volume Limit ◽  
Cutoff Dependence ◽  
Diagonal Approximation ◽  
Fixed Area ◽  
Many Body Systems

Abstract Recent results suggest that new corrections to holographic entanglement entropy should arise near phase transitions of the associated Ryu-Takayanagi (RT) surface. We study such corrections by decomposing the bulk state into fixed-area states and conjecturing that a certain ‘diagonal approximation’ will hold. In terms of the bulk Newton constant G, this yields a correction of order O(G−1/2) near such transitions, which is in particular larger than generic corrections from the entanglement of bulk quantum fields. However, the correction becomes exponentially suppressed away from the transition. The net effect is to make the entanglement a smooth function of all parameters, turning the RT ‘phase transition’ into a crossover already at this level of analysis.We illustrate this effect with explicit calculations (again assuming our diagonal approximation) for boundary regions given by a pair of disconnected intervals on the boundary of the AdS3 vacuum and for a single interval on the boundary of the BTZ black hole. In a natural large-volume limit where our diagonal approximation clearly holds, this second example verifies that our results agree with general predictions made by Murthy and Srednicki in the context of chaotic many-body systems. As a further check on our conjectured diagonal approximation, we show that it also reproduces the O(G−1/2) correction found Penington et al. for an analogous quantum RT transition. Our explicit computations also illustrate the cutoff-dependence of fluctuations in RT-areas.

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