Monday, April 10, 2006

Teaching the deaf children to dance

Sandip Soparrkar, dance teacher, teaches deaf children of "Behara Sangh" in Nepal to dance, along with Sarah Giri, wife of former prime-minister of Nepal. The children perform at the entire show, titled "Welcome To The World Of Silence", to be put up in Nepal in May 15 and later to tour India and Europe.

http://cities.expressindia.com/fullstory.php?newsid=177127
Sarah's children - Nepali Times

Thursday, January 05, 2006

Physically-challenged boy tops Senior Secondary Exam

Physically-challenged boy tops Senior Secondary Exam - Deccan Herald - Internet Edition

I just love to read and share these kinds of stories where people are not restricted by their limitations and dare to dream beyond and achieve. Way to go Akshit.

DH News Service Jaipur:
A physically-challenged boy from Kuchaman city in Rajasthan has made his family proud by topping the Senior Secondary Examination in the Commerce category. Akshit Kheralka was declared the topper by the Rajasthan Board of Secondary Education in Ajmer on Saturday. He secured 90.92 per cent marks.

It was a double pleasure for Akshit and Noble Senior Secondary School, as his classmate Abhishek Jain stood second in the examination for Commerce. But for Akshit, it was indeed a great moment that will go a long way in boosting his morale and achieving his aim of becoming a management expert in the future.

Akshit was born without properly formed hands but he never let this handicap obstruct his progress. He never went to coaching centres for tuitions but achieved the first position with regular studies, his father Chetan Kheralka, a salt merchant said. He told Deccan Herald that one should never feel inferior whatever the disability.

What makes Akshit's success special is that he wrote the exam with his half-formed hand. He said he cannot write with great speed but was given some extra time that helped him perform better. Nearly 34,000 students had appeared for the examination. The chairman of Rajasthan Board of Secondary Education, Dr Bimal Prasad Agrawal said had he opted for another ‘writer’, he would not have been able to secure the first position.

Akshit had secured 9th position in the VIIIth Board examination and secured 89 per cent marks in the Secondary examination. His proud parents said, “We have always told him not to let his disability dishearten him.

Tuesday, February 22, 2005

NF2 Genetic viewpoint links

Some links to research works related to NF2 from Genetics point of view:

(If you know of links that can be put up here, please suggest. You can leave them as comments)

Study: ringing in ears could be linked to eyes

Neurofibromatosis: A New Model for Merlin Localization and Function

Posted February 11, 2005

Wallace Ip, Ph.D., University of Cincinnati College of Medicine, Ohio

NF2, an inherited disorder that affects 1 in 40,000 individuals, is characterized by the formation of bilateral schwannoma of the 8th cranial nerve and predisposition to other nervous system tumors. NF2 is caused by mutations in a tumor suppressor gene called merlin, a member of a family of proteins that bind to the structural support network in cells (known as the cytoskeleton). Recent work by Dr. Wallace Ip at the University of Cincinnati College of Medicine, a recipient of an FY02 NFRP Idea Award, provides new insight into merlin localization and function. Dr. Ip's group demonstrated that most merlin within cells is attached to specialized areas of the cell membrane called lipid rafts. His data also suggest that merlin activation is accompanied by dissociation of merlin-containing lipid rafts from the cytoskeleton. Merlin is the first tumor suppressor to be localized to lipid rafts, which contain a high concentration of signaling molecules that regulate cell growth. These findings suggest that the ability of merlin to disrupt growth-promoting signaling pathways originating from the cell membrane may be dependent on its association with the rafts. Future studies will examine whether mutant merlin proteins modeled after mutations known in NF2 patients are defective in lipid raft targeting and whether forced localization of the mutant proteins to lipid rafts can restore normal function. Dr. Ip's research may provide explanations for the loss of function associated with some merlin mutations and ultimately help investigators develop new therapeutics for the affected individuals.

Publications:

Stickney JT, Bacon WC, Rojas M, et al. 2004. Activation of the tumor suppressor merlin modulates its interaction with lipid rafts. Cancer Research 64:2717-2724.

Wednesday, February 16, 2005

Seventh medical opinion saved eye of 3-year-old

• Six hospitals make faulty diagnosis of Ramamurthy’s eye disease — mistakes Embryonal Rhabdomyosarcoma for incurable tumour.
• With little money to remove Ramamurthy’s eye, the helpless parents wait to see their only child breathe his last.
• A free medical camp at Basaveshwaranagar breathes new life into the parents — not just that the tumour could be removed, but the boy could see as well.
• After three months of suffering and endless hospital visits, the boy is promised cure and that with a few locally available drugs.
• Ramamurthy’s treatment is on. A philanthropist comes forward to sponsor the complete treatment expenses — around Rs 3 lakh.

From The Times of India; dtd 16 Feb 2005; Bangalore edition

Bangalore: Seeking a second opinion on matters of health is nothing new. But in the case of three-year-old Ramamurthy, it was the seventh round of opinion that saved his eye.
Six hospitals, including three premier hospitals for ophthalmology and oncology, had made faulty diagnosis of a rare kind of eye cancer — Embryonal Rhabdomyosarcoma or EB — suggesting the only way to save the little boy was removing his eye. But after three months of suffering and endless hospital visits, he is finally promised cure, and that with a few locally available drugs.
Ramamurthy, the only child of a gardener from Jalahalli, developed some irritation in his right eye last December. Before his illiterate parents could realise what had happened, the boy’s eye ball had swollen up into the size of a cricket ball with the cornea grossly popping out. Within a fortnight, he turned blind.
Doctors across six hospitals saw a malignant tumour in the eye and recommended removing Ramamurthy’s eye to save his life. But after almost a month of endless hospital visits, his helpless parents decided to return home. “If Ramu had to be saved, his eye had to be removed, but mobilising funds to remove his eye was an impossible task. It was as if we were waiting to see our only child breathe his last,’’ Ramamurthy’s father recalled.
In fact, it was a free surgical and medical camp organised by the Bhagwan Mahaveer Jain Hospital at Basaveshwaranagar that breathed new life into Ramamurthy and his parents. At the camp, doctors declared that the tumour could be removed and the boy will regain his sight.
Diagnosing it as EB, a type of cancer that occurs in less than three per cent of cancer cases among children, doctors established that the tumour would be highly responsive to chemotherapy and radiotherapy with excellent prognosis rate.
Ramamurthy’s treatment is on. Philanthropist Mohan Lal Ranka has offered to sponsor the expenses which amount to about Rs 3 lakh. “Right diagnosis of a rare disease may still be a challenge, but there is dire need for doctors to work up cases. The boy would have lost his eye for nothing. Worse, the boy would have lost his life as the parents helplessly let the tumour grow without treatment,” said hospital CEO Dr Kishore Murthy.


(Will post link shortly)

NF2 Research: Honing the Proteome

Honing the Proteome
by Eric Schoch

As many as 150,000 Americans, and countless thousands more people around the world, struggle with neurofibromatosis, which causes tumors to grow on nerve tissue. It's the most common disease caused by the mutation of a single gene and can leave people disfigured, in pain, blind, deaf, or struggling with malignancies.

Except for surgery to remove threatening tumors, there is no treatment, there is no cure.

Wade Clapp, associate professor of pediatrics and of microbiology and immunology, and his colleagues at the Indiana University School of Medicine are working to change that. One of their areas of focus is the mast cell, an immune system component that appears to stimulate the growth of the tumors by secreting protein messengers.

Read on

Monday, January 31, 2005

Neurofibramatosis Type 2 (NF2) – A Short Note

What is NF2
NF2 is a rare genetic condition with a prevalence of 1 in 40,000 people. [ 1 ]

Technical Stuff
NF2 is caused by a defect in the NF2 gene on chromosome 22. This gene is responsible for producing a protein call merlin or schwannomin.

Merlin is expressed in nerve cells, specifically called schwann cells. Schwann cells wrap around the axons of nerve cells. Merlin is responsible for control of growth of these schwann cells. Under the condition of NF2, Merlin is absent or mutated. So, merlin will not be effective in controlling the growth of schwann cells, which results in tumours. Merlin is also required in other cells for
controlled growth, absence of Merlin thus means, potential for tumours in other parts of the body [ 2 ]

How does one get NF2? [ 3 ]
Through one of the following ways:
1) Gene mutation
2) Hereditary: There is a 50% probability of a child inheriting NF2 from a parent who has an NF2 gene, either in dominant or carrier form

Effects of NF2
One of the typical effects of NF2 is "Acoustic Neuromas" (AN) or "Schwannomas"[ 4 ], which is the uncontrolled growth of Schwann cells of the seventh and eighth cranial nerves (CN VII and VIII) (typically both right and left sides of the brain). CN VIII is responsible for transmission of sound-induced nerve impulses between the inner ear and the brainstem, and transmission of balance information. CN VII is the facial nerve responsible for the movement of half the face on the same side as the nerve Symptoms produced by AN include:
  • Hearing loss
  • Ringing in the ear (tinnitus)
  • Imbalance
  • Dizziness (vertigo)
  • Facial weakness
  • Facial numbness or pain
  • Discomfort (feeling of fullness/pressure) in or around the ear
Tumours in other places in brain and the body (spinal cord) are also possible. Typically, NF2 tumours are benign tumours.

Treatment options [ 5 ]
In the words of a neurosurgeon, "NF2 and its forme fruste are indeed a challenging problem for any neurosurgeon and it is also an extremely difficult proposition of balancing the conservative versus operative management of different problems for any patient. The best approach is to deal with the lesions that are causing problems that hamper normal living. Although the problems may never be sorted out completely, a balance has to be maintained between treatment (which may be aggressive at times) and quality of life and productivity."

Options available today:
1. Open Surgical Treatment
2. Variety of Radiatition treatments: Stereotactic radiation therapy/surgery – SRT/SRS,
Fractionated radiosurgery - FRS, cyberknife surgery, gamma knife surgery [ 6 ]

Meanwhile, research continues to offer genetic treatment for NF2 [ 7 ]. Technology also keeps advancing in general surgery and radiation treatments. [ 8 ]

Disclaimer: I do not claim ownership of this note. This note is a short introduction about NF2 with pieces taken from various sources and sewn together for a quick overview. I have acknowledged sources I have used.

References
[ 1 ] What is NF http://www.nf.org/what_is_nf
[ 2 ] NF2 Video http://www.ygyh.org/nf/cause.htm
[ 3 ] Genetics of NF2 http://www.nf.org/what_is_nf/genetics_nf2.htm
[ 4 ] About Acoustic Neuroma http://www.cksociety.org/PatientInfo/MedicalConditions/acoustic_neuroma.asp
[ 5 ] Managing NF2 http://www.nf.org/what_is_nf/managing_nf2.htm
[ 6 ] http://www.cksociety.org/PatientInfo/MedicalConditions/acoustic_neuroma.asp#stereotactic
[ 7 ] RAS treatments for NF http://www.nf2crew.org/maruta.htm
[ 8 ] Recent Milestone Research Papers
http://www.nf.org/recent_papers/milestone_papers_post1990.htm
[ 9 ] NF2 Support Group on the web http://www.nf2crew.org
[ 10 ] Several Good Links http://www.nf2crew.org/links.php

Friday, January 28, 2005

So Far So Near

So Near Yet So Far
So Far Yet So Near
You are Far away and I need you every moment
You are Near every Moment and I forget about you
What would I do with you
What would I do without you

I need you with me every moment
To help me, support me
To Understand me, Love me
And be myself

I have my pains
I will go through them myself
I will resolve the mysteries myself
But I need you with me

How do I live without you
How do I live with you

-gulshan

First Written: May 2004