Several research papers from Amrita’s Department of Pediatric Genetics gained international attention recently. The papers focus the original work carried out by Dr. Sheela Nampoothiri, Professor and Head at the Department of Pediatric Genetics at Amrita School of Medicine. Dr. Sheela is considered as one of the few experts in India able to treat genetic disorders.
The studies were conducted in collaboration with international hospitals and institutes. The papers include descriptions and discussions of various case scenarios of rare genetic disorders and syndromes, its diagnosis and treatment. “Meticulous evaluation of children presenting with genetic disorders is the key factor culminating in exact diagnosis which gives an opportunity for the family to seek prenatal diagnosis in future pregnancies,” stated Dr. Sheela.
Highlighted below are a few of her important works.
The American Journal of Human Genetics published a paper titled Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. The paper cited NFIX gene as the candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, and osteopenia. This new gene has been detected in a case series of 19 patients around the globe and one patient is from the pediatric genetics department of AIMS.
Human Mutation, the official journal of Human Genome Variation Society published a paper titled Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-sulfotransferase 1 Encoding CHST14 Gene. Published in Wiley Online Library, the study was conducted in association with Ghent University Hospital and University Hospital of Sart-Tilman at Belgium, which also states regarding identification of this novel responsible gene.
Another paper was published in the American Journal of Medical Genetics titled Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features. This is a very rare skeletal dysplasia and this gene is responsible for autosomal recessive type of Larsen syndrome. This mutation has been detected only in 24 patients till now.
The International Journal of Dermatology published a paper titled An Indian family with Sjogren-Larsson syndrome caused by a novel ALDH3A2 mutation. The paper reported the case of two Indian sisters who suffered from Sjogren-Larsson syndrome, a rare hereditary disorder. “This is the first reported case of mutation-proven Sjogren-Larsson syndrome in an Asian country other than Japan,” says Dr. Sheela.
The official journal of the Society for Inherited Metabolic Disorders published a paper titled Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA which describe the rare mutations associated with PKU in India.
The Journal of Pediatric Dermatology published yet another paper titled Nevus Comedonicus Syndrome—Nevus Comedonicus Associated with Ipsilateral Polysyndactyly and Bilateral Oligodontia.
Wednesday, February 23, 2011
New Department For Rheumatology And Clinical Immunology Inaugurated At Amrita
Prof. Sita Naik, Member Board of Governors, Medical Council of India, inaugurates the new department for rheumatology and clinical immunology; national frontrunners in rheumatology and clinical immunology speaks at the inaugural conference
A new department for rheumatology and clinical immunology was inaugurated at the Amrita Institute of Medical Sciences on February 20, 2011. The department offers comprehensive adult and pediatric arthritis care including biologic therapy.
‘There are more than 10 lakh patients with various rheumatological complaints in the state of Kerala. Ours is the first academic department in rheumatology set in the state to offer adequate evaluation and appropriate treatment facilities to such patients,’ informed Dr. Padmanabha Shenoy, Head of the Department of Rheumatology and Clinical Immunology at Amrita.
Prof. Sita Naik, Member Board of Governors, Medical Council of India and former Head of the Department of Clinical Immunology and Dean at SGPGI was at Amrita for the inauguration.
‘Nationally, there has been a recognition within the medical community that rheumatology is a specialty which is needed at both ends ‘the adult and the pediatric. A large spectrum of rheumatic diseases affect the prime productive years of a person’s life.’
‘Because of the chronic nature, the crippling effects and the social non-acceptance of the disease, a large number of specialists are definitely required for meeting challenges. Therefore, it is wonderful that this specialty is taking root in many institutes.’
She also congratulated the Amrita management for taking steps to set up a department which will give total care to patients with rheumatological diseases.
Swami Poornamritananda Puri blessed the occasion. ‘Selfish people lose the support of nature. When we turn selfless and serve the world with love and compassion immense strength comes to us. This is the best place to show your love and compassion to the really suffering ones.’
‘It is really a proud moment for us to start yet another specialty area,’ stated Dr. Prem Nair, the Medical Director. ‘In a tertiary care facility, there is always a need for specializations and developing a referral approach to disease entities.’
The department will begin offering services such as rheumatoid arthritis clinic and SLE clinic in addition to regular medical management of arthritis patients. The unit is also in the process of establishing a state of the art autoimmune disease laboratory.
Renowned clinicians and faculty in field of Rheumatology and Clinical Immunology spoke at the inaugural conference. The conference addressed various aspects of arthritis and other rheumatological diseases in adults and children.
‘Listen to your patients carefully because arthritis is only a symptom and can occur due to many causes,’ stated Dr. Amita Aggarwal, Professor at the Department of Clinical Immunology and Rheumatology, SGPGI, Lucknow. She spoke on polyarthritis and spondyloarthropathy, the common rheumatological problems diagnosed.
The diagnosis and treatment aspects of arthritis in children were discussed by Dr. Sathish Kumar, Consultant Pediatric Rheumatologist at CMC Vellore. The rheumatology faculty at Amrita, Dr. Padmanabha Shenoy and Dr. Suma Balan also spoke on the occasion.
The function was well attended by over 150 physicians from many parts of the state.
Thursday, February 10, 2011
AHEAD 2011 At Amrita
The seventh Amrita Head and Neck Oncology teaching program (AHEAD ‘ 2011) was organized at Amrita’s health sciences campus from February 4th to 6th 2011.
The CME was organized by Amrita’s Head and Neck Institute in association with the Foundation for Head and Neck Oncology ‘ India.
This annual event disseminates the latest medical information on various abnormalities and diseases invading the head and neck region, particularly head and neck tumors. Around 100 delegates including distinguished speakers and faculty from all over the country participated.
‘This annual teaching program is specially meant for postgraduate trainees from various clinical disciplines such as ENT, surgical oncology, maxillofacial surgery, radiation and medical oncology,’ stated the organizers.
This time, the three-day seminar included didactic short lecture series on topics including the management of paranasal sinus tumors, management of anterior skull base neoplasms, diagnosis and management of salivary gland tumors, management of advanced carcinoma of the larynx, management of thyroid carcinoma, management of oropharyngeal carcinoma and so on.
Other significant lectures included prosthetic rehabilitative measures in head and neck, voice rehabilitation following laryngectomy, anesthesia in head and neck surgery, role of nuclear medicine in management of thyroid tumors, significance of plastic surgery in head and neck reconstruction etc.
Apart from Amrita faculty, experienced head and neck surgeons around the country including Dr. Anil D’ Cruz from Tata Memorial Hospital, Mumbai, Dr. Nampoothiri from Medical College, Calicut, Dr. Moni Abraham Kuriakose from Narayana Hrudayalaya, Bangalore, Dr. P. Arun from Tata Medical Center Cancer Hospital, Kolkata joined the teaching sessions. Live surgical demonstrations of parotidectomy, thyroidectomy, laryngectomy, neck dissection, and maxillectomy followed
Congratulations to the organizers of AHEAD whose strenuous effort is behind organizing the informative teaching sessions for the benefit of budding young specialists.
Friday, February 05, 2011
The Department of Gynecology Achieves Another Milestone
Dr. Radhamany K., Professor and Head at the Department of Gynecology successfully led a team to perform a two and half hour surgery that removed a non-cancerous tumour from the uterus of a 41-year old woman. What was unusual about the operation was that the tumor weighed 5.3 kg.
“This is possibly the largest fibroid removed off late in the gynecology department,” stated Dr. Radhamony. “There is a changing trend of increasing incidence of myomas in the perimenopausal age group, probably corresponding with delayed menopause and increased active reproductive period,” she added.
This tumor was removed along with the uterus.
Dr. Radhamany explained further.
The patient came to us with complaints of abdominal distension, progressive in nature, associated with loss of weight and appetite. Investigations revealed a 28 x 28 cm subserous fibroid arising from the fundus.
In view of the large size of the fibroid, she was planned for total abdominal hysterectomy.
Part of the obstetrics and gynecology team at the Amrita School of Medicine, Dr. Radhamany was assisted by Drs .Smitha Joy and Harikrishnan.U.
Wednesday, February 02, 2011
Study Shows Benefits of Integrated Amrita Meditation Technique (IAM Technique)
IAM—Integrated Amrita Meditation Technique lowers stress hormones, according to a study recently published in the 2011 volume of the international journal Evidence-Based Complementary & Alternative Medicine (eCAM), published by the Hindawi Publishing Corporation.
The five-year study, titled “The Effect of Meditation on Psycho-Physiological Variables,” examines the effect of IAM Technique on various psychological, physiological and biochemical parameters.
According to the study, practitioners of IAM Technique experience a reduction in stress-hormone adrenaline within 48 hours of beginning the practice. This reduction was shown to sustain in IAM Technique practitioners throughout the eight-month monitoring period accounted for by the study. The study also showed a decline in stress-hormone cortisol following eight months of practice.
Other physiological results documented by the study include a significant decrease in the heart and respiratory rate of practitioners, as well as significant increase in IgA levels, which are associated with immunological benefits. Through the study’s psychological-evaluation component, a major change was also recorded in the attitude of practitioners towards ‘stressful events.’
This study was conducted by Ms. Vandana Balakrishnan (research scholar at the Department of Physiology), under the guidance of Dr. Harish Kumar, Head of the Department of Endocrinology; Prof. L. Saraswathy (HOD); and Prof. G.K. Suseeladevi of the Department of Physiology and Prof. K.R. Sundaram, HOD, Department of Biostatistics at AIMS.
The results of the study have given rise to further research, including a study on the effect of IAM Technique on relieving stress amongst cancer patients undergoing treatment, as well as the impact of the technique in relieving hypertension.
IAM Technique is taught free of charge throughout the world by representatives of the Mata Amritanandamayi Math (MAM), the non-governmental organization of renowned humanitarian and spiritual leader Sri Mata Amritanandamayi Devi (Amma). It comprises a combination of yogic postures, breathing practices and mental-concentration exercises. MAM has been teaching the technique to the public since 2003. In 2008, at the request of the Indian government, MAM began teaching IAM Technique on a widespread scale to India’s military and paramilitary soldiers. The technique is also being taught in schools and colleges throughout India, as well as to employees of businesses corporations, including Infosys, BSNL and IIM.
News Courtesy: Amma International Media Relations, Amritapuri
Friday, January 14, 2011
Discussing The Global Effects of Climate Change
How do we improve the deteriorating global environmental conditions affecting human health?
What are the measures to be adopted to protect our health from climate change?
Does the change in climate contribute significantly to boost vector-borne diseases?
Answers to all these questions and other such facts were presented by Dr. K. Leelamoni, Professor and HOD, and Dr. K. N. Panicker, Professor Emeritus, at the Department of Community Medicine in their invited lectures at the National Workshop on “Climate Change and Health.”
“Definitely, climate change is a threat to community well being,” emphasized Dr. Leelamoni.
Her paper titled Climate change and future threats to Public Health –Need for Community Health related adaptation underlined the need of an interdisciplinary and intersectoral partnership from local to international level that seek to improve health through rapid deployment of mitigations strategies to stabilize climate change and development.
Currently, Dr. Leelamoni serves as Professor and Head at the Department of Community Medicine. She is the chief coordinator of Quit Tobacco India International Project at Amrita. She has various publications in national and international journals to her credit. She has also worked in the community medicine dept of different govt. medical colleges of Kerala.
“Climatic changes are likely to lengthen the transmission seasons of important vector-borne diseases," stated Dr. K. N. Panicker.
Dr. Panicker’s paper was titled Adaptive strategies for vector control in tropics in relation to changing climatic conditions.
Climate change could significantly affect vector borne diseases in humans.
The paper pointed out that malaria transmitted by Anopheles mosquitoes, is strongly influenced by climate. It kills almost 1 million people every year.
Currently working as Emeritus Professor at the Department of Community Medicine, Dr. Panicker was a WHO Consultant to Geneva. He was in the service of the Indian Council of Medical Research in the Grade of Dy. Director- General and as the Director of the world famous Shertallai Filariasis Project besides working as a visiting professor in the medical universities of Japan, Netherlands, Malaysia, and Ethiopia.