scholarly journals Diseases associated with mutations in the filamin A gene (FLNA)

2021 ◽  
Vol 66 (3) ◽  
pp. 20-26
Author(s):  
M. A. Zhestkova ◽  
E. A. Mamayeva ◽  
D. Yu. Ovsyannikov
Keyword(s):  
Central Nervous System ◽  
Congenital Heart ◽  
Multidisciplinary Approach ◽  
Heart Defects ◽  
Orphan Diseases ◽  
Filamin A ◽  
Gene Encoding ◽  
Cytoskeleton Protein ◽  
The Central Nervous System ◽  
Heart Abnormalities

The article presents literature review of the diseases associated with mutations in the FLNA gene encoding filamin A, which is a cytoskeleton protein with polymorphic functions. The mutations of this gene lead to the damage of the central nervous system (periventricular nodular heterotopy), respiratory organs (emphysema, interstitial lung disease), heart (congenital heart defects and minor heart abnormalities); the listed diseases can be diagnosed at different ages. The information presented in this review can be useful for clinical geneticists, specialists in rare (orphan) diseases, pediatricians, neonatologists, neurologists, epileptologists, pulmonologists, surgeons, cardiologists for timely diagnosis and improvement of medical care for patients requiring a multidisciplinary approach.

scholarly journals Expression of a Drosophila melanogaster acetylcholine receptor-related gene in the central nervous system.

1988 ◽  
Vol 8 (2) ◽  
pp. 778-785 ◽  
Author(s):  
S C Wadsworth ◽  
L S Rosenthal ◽  
K L Kammermeyer ◽  
M B Potter ◽  
D J Nelson
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Drosophila Melanogaster ◽  
Acetylcholine Receptor ◽  
Optic Lobe ◽  
Cdna Probe ◽  
Amino Acid Sequence Homology ◽  
Gene Encoding ◽  
Salivary Gland Polytene Chromosome ◽  
The Central Nervous System

We isolated Drosophila melanogaster genomic sequences with nucleotide and amino acid sequence homology to subunits of vertebrate acetylcholine receptor by hybridization with a Torpedo acetylcholine receptor subunit cDNA probe. Five introns are present in the portion of the Drosophila gene encoding the unprocessed protein and are positionally conserved relative to the human acetylcholine receptor alpha-subunit gene. The Drosophila genomic clone hybridized to salivary gland polytene chromosome 3L within region 64B and was termed AChR64B. A 3-kilobase poly(A)-containing transcript complementary to the AChR64B clone was readily detectable by RNA blot hybridizations during midembryogenesis, during metamorphosis, and in newly enclosed adults. AChR64B transcripts were localized to the cellular regions of the central nervous system during embryonic, larval, pupal, and adult stages of development. During metamorphosis, a temporal relationship between the morphogenesis of the optic lobe and expression of AChR64B transcripts was observed.

scholarly journals Cardiovascular Diseases Prediction Using Machine Learning Algorithms

2021 ◽  
Vol 12 (6) ◽  
pp. 1083-1088
Author(s):  
Rumana M Shaikh
Keyword(s):  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Heart Rhythm ◽  
Machine Learning Algorithms ◽  
Restricted Boltzmann Machines ◽  
Heart Attacks ◽  
Broad Variety ◽  
Heart Abnormalities

A broad variety of health conditions are involved in heart disease. Several illnesses and disorders come under the heart disease umbrella. Heart disease forms include: In arrhythmia, abnormality of the heart rhythm. Arteriosclerosis, Hardening of the arteries is atherosclerosis. Via cardiomyopathy, this disorder causes muscles in the heart to harden or grow weak. Defects of the congenital heart, heart abnormalities that are present at birth are congenital heart defects. Disease of the coronary arteries (CAD), the accumulation of plaque in the heart's arteries triggers CAD. It's called ischemic heart disease occasionally. Infections of the heart, bacteria, viruses, or parasites may trigger heart infections. Heart diseases namely arrhythmias, coronary heart disease, heart attacks, cardiomyopathy will be detect using the proposed algorithm in this paper. Here I compared three algorithms namely Restricted Boltzmann Machines, Deep Belief Networks and Convolutional Neural Networks for electrocardiogram (ECG) classification for heart disease.

scholarly journals Pregnancy in a Previously Conjoined Thoracopagus Twin with a Crisscross Heart

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Bassam H. Rimawi ◽  
Iris Krishna ◽  
Anurag Sahu ◽  
Martina L. Badell
Keyword(s):  
Twin Pregnancy ◽  
Congenital Heart ◽  
Multidisciplinary Approach ◽  
Heart Defects ◽  
Cardiac Abnormality ◽  
Term Pregnancy ◽  
Maternal Fetal Medicine ◽  
Fetal Medicine ◽  
Neonatal Complication ◽  
Cardiac Condition

Background. Crisscross heart (CCH) is a complex, rare, congenital, rotational, cardiac abnormality that accounts for <0.1% of congenital heart defects (CHD). CCH is characterized by the crossing of the inflow streams of the two ventricles due to an abnormal twisting of the heart. A case of maternal CCH has not been previously reported.Case. We report a case of a primigravida with a CCH, who was separated at birth from her thoracopagus conjoined twin. Pregnancy was managed by congenital cardiology, maternal-fetal medicine, anesthesiology, and obstetrics. She underwent a 39-week vaginal delivery without maternal or neonatal complication.Conclusion. A successful term pregnancy outcome was achieved in a patient with CCH using a multidisciplinary approach to address her cardiac condition.

CENTRAL NERVOUS SYSTEM COMPLICATIONS FOLLOWING BLALOCK-TAUSSIG OPERATION

PEDIATRICS ◽  
1967 ◽  
Vol 39 (1) ◽  
pp. 18-23
Author(s):  
Patricia M. Clarkson ◽  
Manuel R. Gomez ◽  
Robert B. Wallace ◽  
William H. Weidman
Keyword(s):  
Central Nervous System ◽  
Congenital Heart Disease ◽  
Nervous System ◽  
Heart Disease ◽  
Congenital Heart ◽  
Cyanotic Congenital Heart Disease ◽  
Arterial System ◽  
Neurologic Complications ◽  
The Central Nervous System ◽  
Low Incidence

Two cases of severe neurologic symptoms after a Blalock-Taussig anastomosis are presented in detail. The histories of 116 patients with cyanotic congenital heart disease who had such an anastomotic operation at the Mayo Clinic were reviewed. There was a low incidence (less than 1%) of postoperative neurologic complications in patients without evidence of focal dysfunction of the central nervous system prior to operation. The review suggested an increased incidence of complications in those patients with a cerebrovascular abnormality before surgery. It is likely that these complications are related to alterations in the vertebrobasilar arterial system associated with this procedure.

scholarly journals Contemporary methods of radiosurgery treatment with the Novalis linear accelerator system

2007 ◽  
Vol 23 (6) ◽  
pp. E3 ◽  
Author(s):  
Joseph C. T. Chen ◽  
Javad Rahimian ◽  
Michael R. Girvigian ◽  
Michael J. Miller
Keyword(s):  
Central Nervous System ◽  
Linear Accelerator ◽  
Multidisciplinary Approach ◽  
Vascular Diseases ◽  
Integrated Systems ◽  
Image Guided ◽  
Radiation Delivery ◽  
Extracranial Radiosurgery ◽  
The Central Nervous System ◽  
Accelerator System

✓ Radiosurgery has emerged as an indispensable component of the multidisciplinary approach to neoplastic, functional, and vascular diseases of the central nervous system. In recent years, a number of newly developed integrated systems have been introduced for radiosurgery and fractionated stereotactic radiotherapy treatments. These modern systems extend the flexibility of radiosurgical treatment in allowing the use of frameless image-guided radiation delivery as well as high-precision fractionated treatments. The Novalis linear accelerator system demonstrates adequate precision and reliability for cranial and extracranial radiosurgery, including functional treatments utilizing either frame-based or frameless image-guided methods.

scholarly journals PlexinA2 and semaphorin signaling during cardiac neural crest development

Development ◽  
2001 ◽  
Vol 128 (16) ◽  
pp. 3071-3080 ◽  
Author(s):  
Christopher B. Brown ◽  
Leonard Feiner ◽  
Min-Min Lu ◽  
Jun Li ◽  
Xiaokui Ma ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
Congenital Heart ◽  
Neural Crest Cells ◽  
Model Systems ◽  
Cardiac Neural Crest ◽  
Neural Crest Development ◽  
The Central Nervous System ◽  
Mouse Lines

Classic studies using avian model systems have demonstrated that cardiac neural crest cells are required for proper development of the cardiovascular system. Environmental influences that perturb neural crest development cause congenital heart defects in laboratory animals and in man. However, little progress has been made in determining molecular programs specifically regulating cardiac neural crest migration and function. Only recently have complex transgenic tools become available that confirm the presence of cardiac neural crest cells in the mammalian heart. These studies have relied upon the use of transgenic mouse lines and fate-mapping studies using Cre recombinase and neural crest-specific promoters. In this study, we use these techniques to demonstrate that PlexinA2 is expressed by migrating and postmigratory cardiac neural crest cells in the mouse. Plexins function as co-receptors for semaphorin signaling molecules and mediate axon pathfinding in the central nervous system. We demonstrate that PlexinA2-expressing cardiac neural crest cells are patterned abnormally in several mutant mouse lines with congenital heart disease including those lacking the secreted signaling molecule Semaphorin 3C. These data suggest a parallel between the function of semaphorin signaling in the central nervous system and in the patterning of cardiac neural crest in the periphery.

Expression of a Drosophila melanogaster acetylcholine receptor-related gene in the central nervous system

1988 ◽  
Vol 8 (2) ◽  
pp. 778-785
Author(s):  
S C Wadsworth ◽  
L S Rosenthal ◽  
K L Kammermeyer ◽  
M B Potter ◽  
D J Nelson
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Drosophila Melanogaster ◽  
Acetylcholine Receptor ◽  
Optic Lobe ◽  
Cdna Probe ◽  
Amino Acid Sequence Homology ◽  
Gene Encoding ◽  
Salivary Gland Polytene Chromosome ◽  
The Central Nervous System

We isolated Drosophila melanogaster genomic sequences with nucleotide and amino acid sequence homology to subunits of vertebrate acetylcholine receptor by hybridization with a Torpedo acetylcholine receptor subunit cDNA probe. Five introns are present in the portion of the Drosophila gene encoding the unprocessed protein and are positionally conserved relative to the human acetylcholine receptor alpha-subunit gene. The Drosophila genomic clone hybridized to salivary gland polytene chromosome 3L within region 64B and was termed AChR64B. A 3-kilobase poly(A)-containing transcript complementary to the AChR64B clone was readily detectable by RNA blot hybridizations during midembryogenesis, during metamorphosis, and in newly enclosed adults. AChR64B transcripts were localized to the cellular regions of the central nervous system during embryonic, larval, pupal, and adult stages of development. During metamorphosis, a temporal relationship between the morphogenesis of the optic lobe and expression of AChR64B transcripts was observed.

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