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Tetralogy of Fallot.

Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve abnormalities of the heart. It is the most common cyanotic heart defect, and the most common cause of blue baby syndrome.

As such, by definition, it involves four heart malformations which present together:

  • Pulmonary Infundibular Stenosis: A narrowing of the right ventricular outflow tract. It can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
  • Overriding aorta: Aorta is situated above the ventricular septal defect and connected to both the right and the left ventricle.
  • Ventricular septal defect (VSD): A hole between the two bottom chambers (ventricles) of the heart.
  • Right ventricular hypertrophy: The right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen by chest X-ray. 

Signs and symptoms: Tetralogy of Fallot results in low oxygenation of blood due to the mixing of oxygenated and deoxygenated blood in the left ventricle via the ventricular septal defect (VSD) and preferential flow of the mixed blood from both ventricles through the aorta because of the obstruction to flow through the pulmonary valve. This is known as a right-to-left shunt. The primary symptom is low blood oxygen saturation with or without cyanosis from birth or developing in the first year of life. Other symptoms include a heart murmur which may range from almost imperceptible to very loud, difficulty in feeding, failure to gain weight, retarded growth and physical development, dyspnea on exertion, clubbing of the fingers and toes, and polycythemia. Digital clubbing or watch-glass nails with cyanotic nail beds is common in adults with tetralogy of Fallot (2nd picture).

Stanford scientists reveal complexity in the brain’s wiring diagram

When Joanna Mattis started her doctoral project she expected to map how two regions of the brain connect. Instead, she got a surprise. It turns out the wiring diagram shifts depending on how you flip the switch.

"There’s a lot of excitement about being able to make a map of the brain with the idea that if we could figure out how it is all connected we could understand how it works," Mattis said. "It turns out it’s so much more dynamic than that."

Mattis is a co-first author on a paper describing the work published August 27 in the Journal of Neuroscience. Julia Brill, then a postdoctoral scholar, was the other co-first author.

Mattis had been a graduate student in the lab of Karl Deisseroth, professor of bioengineering and of psychiatry and behavioral sciences, where she helped work on a new technique called optogenetics. That technique allows neuroscientists to selectively turn parts of the brain on and off to see what happens. She wanted to use optogenetics to understand the wiring of a part of the brain involved in spatial memory – it’s what makes a mental map of your surroundings as you explore a new city, for example.

Scientists already knew that when an animal explores habitats, two parts of the brain are involved in the initial exploring phase and then in solidifying a map of the environment – the hippocampus and the septum.

When an animal is exploring an environment, the neurons in the hippocampus fire slow signals to the septum, essentially telling the septum that it’s busy acquiring information. Once the animal is done exploring, those same cells fire off intense signals letting the septum know that it’s now locking that information into memory. The scientists call this phase consolidation. The septum uses that information to then turn around and regulate other signals going into the hippocampus.

"I wanted to study the hippocampus because on the one hand so much was already known – there was already this baseline of knowledge to work off of. But then the question of how the hippocampus and septum communicate hadn’t been accessible before optogenetics," Mattis said.

Neurons in the hippocampus were known to fire in a rhythmic pattern, which is a particular expertise of John Huguenard, a professor of neurology. Mattis obtained an interdisciplinary fellowship through Stanford Bio-X, which allowed her to combine the Deisseroth lab’s expertise in optogenetics with the rhythmic brain network expertise of Julia Brill from the Huguenard lab.

Mattis and Brill used optogenetics to prompt neurons of the hippocampus to mimic either the slow firing characteristic of information acquisition or the rapid firing characteristic of consolidation. When they mimicked the slow firing they saw a quick reaction by cells in the septum. When they mimicked the fast consolidation firing, they saw a much slower response by completely different cells in the septum.

Same set of wires – different outcome. That’s like turning on different lights depending on how hard you flip the switch. “This illustrates how complex the brain is,” Mattis said.

Most scientific papers answer a question: What does this protein do? How does this part of the brain work? By contrast, this paper raised a whole new set of questions, Mattis said. They more or less understand the faster reaction, but what is causing the slower reaction? How widespread is this phenomenon in the brain?

"The other big picture thing that we opened up but didn’t answer is: How can you then tie this back to the circuit overall and learning memory?" Mattis said. "Those would be exciting things to follow up on for future projects."

Some Clinical Studies join Zoloft to Birth Defects on Wbmedic

Some Clinical Studies join Zoloft to Birth Defects

Some Clinical Studies join Zoloft to Birth Defects, As of late there have been a few clinical studies that have joined Zoloft to conception imperfections and different complexities if taken by ladies who are pregnant. Youngsters destined to moms who had taken Zoloft or different antidepressants…

http://goo.gl/yEdDX1 read more at http://wbmedic.com/some-clinical-studies-join-zoloft-birth-defects/
Easy Tips to Reshape Nose Cartilage without Surgery

Easy Tips to Reshape Nose Cartilage without Surgery

Nose Cartilage is tough, flexible connective tissue that forms the tip of the nose.

It includes the lateral nasal cartilages, the lesser alar cartilages, the greater alar cartilages, and the septal cartilage. Cartilage is a strong, translucent, elastic tissue that is present in several parts of the body and has no nerves or blood vessels running through it. The tissue in the nose is composed of…

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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

PubMed: Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Eur J Hum Genet. 2014 Oct 22;

Authors: Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D

Abstract
Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We also present a literature overview of reported patients with compound heterozygous or homozygous pathogenic MYBPC3 mutations and describe their clinical characteristics. All four children presented with feeding difficulties, failure to thrive, and dyspnea. They died from cardiac failure before age 13 weeks. Features of left ventricular noncompaction were diagnosed in three patients. In the fourth, hypertrabeculation was not a clear feature, but could not be excluded. All of them had septal defects. Two patients were compound heterozygotes for the pathogenic c.2373dup p.(Trp792fs) and c.2827C>T p.(Arg943*) mutations, and two were homozygous for the c.2373dup and c.2827C>T mutations. All patients with biallelic truncating pathogenic mutations in MYBPC3 reported so far (n=21) were diagnosed with severe cardiomyopathy and/or died within the first few months of life. In 62% (13/21), septal defects or a patent ductus arteriosus accompanied cardiomyopathy. In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients.European Journal of Human Genetics advance online publication, 22 October 2014; doi:10.1038/ejhg.2014.211.

PMID: 25335496 [PubMed - as supplied by publisher] http://dlvr.it/7J0MwJ

ASD Repair and Tricuspid repair with Ring implantation

Hey everyone, well who knows who is actually reading this…

Today I had a wonderful day. Today I turned 25, old balls. As I was putting lines up to the table from the heart-lung machine, everyone in the OR room starting singing Happy Birthday to me, even my favorite DR, DR Tutuska. I couldn’t stop smiling, I fell so loved. These people I work with really are my family. I love the, so much.

So andways, I assisted Dr. Tut on a ASD Repair (Atrial Septal Defect). I have only done 2 int he 4 years I have been at the hospital. One was a 60 YR old and the other was on a newborn, that was very interesting and I am thankful to be in that case.

We started by opening the chest, opening the pericardium, started cannulation. Once we were cannulated we checked all the lines to make sure there were no bubbles in any of the cannulas that could go to the brain and give them an embolism. 

Once on pump we opened the biggest right atrium, then bam, biggest defect I have ever seen, the hole was the size of an easter egg. Once we check all the coronaries and looked at the Tricuspid valve which was fine but we ringed the valve to just reinforce the valve. Fixing the defect was amazing we used a pericardial patch in the shape of a teardrop. We used 4-0 prolene to stitch in it. It really looked beautiful. Then we ringed the Tricuspid valve, we have to make sure that there was nothing impeding the Bundle of hiss because we didn’t want the patient to go into complete heart block, and end up with a pacemaker.

What a great day, got to do a wonderful case with my favorite DR. great Birthday overall. Very Fulfilling! 

image

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* Not my patient I worked on

Facts and findings about truncus arteriosus top centers:

Truncus arteriosus is a rare congenital heart defect with severe complications. In this disease,  instead of two separate blood vessels connecting the heart to the rest of the body’s organs, only a single vessel arises. This leads to mixing of oxygen-rich and oxygen-depleted blood, causing serious complications.  Normally the embryonic heart has a single blood vessel which later on divides into two (the aorta and pulmonary artery). Due to single blood vessel pure (oxygen rich) and impure (reduced level of oxygen) blood get mixed, circulate in both body and lungs.  Types of truncus arteriosus besides that described above include ventricular septal defect (VSD), a hole in the muscular wall of two pumping chambers of heart (right and left ventricles). Due to this problem, a much greater amount of blood flows through pulmonary artery causing damage to lungs and congestive heart failure. 

The condition is diagnosed before birth through sonography and soon after the birth of child. The signs and symptoms are observed during the earlier days of birth such as cyanosis (blue color of skin), excessive sweating, feeding problem, rapid breathing and heart rate. The root cause of having this problem is not known yet, but it can be linked with chromosomal disorders similar to rare conditions such as DiGeorge syndrome or 22q 11 deletion syndrome. 

If the infant has been identified with any type of truncus arteriosus he or she should be treated immediately, through surgery. According to a survey report most of the children who had gone through the surgical procedure at an early stage should recover and grow normally like others but they need continuous follow up process till their adulthood due to having greater risk of leaky valve, arrhythmias and other cardiac issues. According to a research published in “The Journal of Thoracic and Cardiovascular Surgery” related to the technique for correcting type 1 and 2 of truncus arteriosus without using extra cardiac conduits (artificially placed tube), the results show that this technique is functional and effective for infants with type 1 and 2 defect when conducted in their first year of life.

CurityMD’s expert listing includes 50 centers with expertise, including The top center is currently The Children’s Hospital of Philadelphia, which houses a diverse team of experienced clinicians, support members, encompasses an unusual team of cardiologists, surgeons, anthesiologists and intensive care specialist staff with skillful training in pediatric cardiology.  Some of the reasons their their team ranks at the top of CurityMD’s expert algorithm are as follows:

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Children’s Hospital of Philadelphia (CHOP) Truncus Program Overview:

  • Research encompassing both academic, translational, and heavily clinical research. 
  • The team has experience with a large number of Truncus cases
  • More than 850 cardiothoracic surgeries, including 550 open heart and more than 1,200 cardiac catheterizations per year
  • CHOP has one of the world’s most advanced cardiac operative and imaging centers
  • Special Delivery Unit exclusively for pregnancies complicated by congenital conditions adjacent to the Cardiac Care  Intensive Care Unit eliminates risk of newborn inter-hospital transport
  • Over 25 Truncus Repairs performed in last 5 years with a survival rate of 96%
  • Has evaluated more than 600 patients with a 22q11.2 deletion
  • Multi-disciplinary team that is trained in CHD including nurses, respiratory therapists, social workers, psychologists and child life specialists

Learn more:  

  • Other hospitals with extensive experience in Truncus include 
  • Boston Children Hospital, who also played a pioneering role in interventional catheterization
  • The Benioff Children’s Hospital at the University of California in San Francisco
  • The Children’s Hospital of Chicago

For a complete list of experienced hospitals ranked by CurityMD’s clinical expertise algorithm, click here

 

Publication date: Available online 18 October 2014
Source:Leukemia Research
Author(s): H. Alizadeh , H. Jaafar , P. Rajnics , M.I. Khan , B. Kajtár
BackgroundTo report on the outcome of pregnancy in patients with chronic myeloid leukemia who were on tyrosine kinase inhibitor treatment.Patients and methodsWe report the result of 22 pregnancies in 14 patients (9 female and 5 male) who conceived or their partner conceived whilst being on tyrosine kinase inhibitors for their CML.ResultsAll pregnancies except one were uneventful. 25 newborns were born and except in one case where small atrial septal defect was diagnosed, all infants were healthy and showed normal development after birthConclusionThis small series does indicate that parents can most likely expect an uneventful outcome to a pregnancy despite exposure of either partner to TKIs. There is no consensus or guideline regarding the best practice in case of pregnancy. More reports of similar nature would certainly be beneficial to practitioners and patients alike. As such it is still recommended to practice effective contraception during the period of TKI treatment.

via ScienceDirect Publication: Leukemia Research

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