Monday, July 20, 2009


O.E. Blinnikova, Cand. Sc. (Med.),geneticist; N.A. Dyomina, geneticist, Honored Physician of R.S.F.S.R. INTRODUCTION Treatment of congenital pathology, in particular, of the group of monogenic diseases has definite restrictions due to the stability of the altered hereditary cell apparatus. As yet, no effective therapy methods have beeen developed to treat the majority of inherited illnesses. Different types of symptomatic therapy, surgical correction of developmental defects and rehabilitation methods are used most frequently. In osteogenesis imperfecta the use of a highly efficient set of somatotropic hormone, calcitrine, vitamin D and its active metabolites, phosphorus preparations as well as antioxidants combined with orthopedic operations is indicated (2). Patients suffering from hereditary pathology that is manifested as oligophrenia are administered stimulating therapy, sets of vitamins and microelements.Pathogenetic approaches to the treatment include dietetic therapy in inherited metabolic defects, that is, exclusion or restriction of those substances contained in the food the concentracion of which in blood is too high. According to the Genetics Division of the Pediatrics and Children's Surgery Institute, a stabilization or significant improvement in the course of the main desease as a result of symptomatic and pathogenetic treatment was observed in 67.9% of children with rickets-like hereditary diseases; in 58.4% with hereditary diseases of the connective tissue, and in 58.8% with phenylketonuria. Complete absence of any effect was observed in 5.2%, 7.9% and 41.2%, respectively (2). Progress in the field of the genetic therapy of hereditary illnesses is accelerating, yet prospects of its wide application are not predictable for the years to come (1). In this connection, new approaches of pathogenetic therapy appear to be of utmost importance. MATERIAL AND STUDY METHODS The method of treatment with amino acid compounds developed by A.P. Khokhlov and co-authors is used to correct motor, mental and speech subnormality. Amino acid compounds act at the cellular level eliminating excess calcium, normalizing the transmembranic transport of sodium and potassium ions, increasing the GABA level, stimulating neuron repolarisation and changing the dopamine level. The above-mentioned drugs have a potent nootropic effect, they reduce spasticity, exert an antispasmodic, sedative and diuretic effect, eliminate extrapyramidal symptoms and decrease aggression. The method of treating with amino acid compounds was tested on a group of patients with inherited disorders.20 patients suffering from hereditary syndromic pathology from 14 families, including four pairs of sibs, have been treated with amino acid drugs. Their age varied between 2 and 13 years. In 8 cases the diagnosis had been made before the patients were admitted to the Primavera Medica Center, and in 10 cases it was made by ourselves. The range of nosologic manifestations covered the following syndromes: Sotos syndrome (2 patients) Tel-Hashomer syndrome (2) Williams syndrome (1) Cohen syndrome (2) Seckel syndrome (1) fragile X-chromosome syndrome (2) X-attached mental retardation (2) Stickler syndrome (1) incontinentia pigmenti /Bloch-Sulzberger syndrome/ (1) Rubinstein-Taybi syndrome (2) congenital hypothyreosis (1) tuberous sclerosis (1) as well as a syndrome with unclear aetiology Rett syndrome The main objective in patients with X-attached mental retardation, fragile X-chromosome syndrome, inborn hypothyreosis, Cohen and Williams syndromes was to correct mental deficiency, speech retardation and attentional disorders; this group of patients lacked any neurological symptoms. Clinical manifestations of another group of patients were, besides oligophrenia, different degrees of coordination disturbances, muscular tonicity changes, epileptic seizures and other neurological manifestations. TO READ FULL ARTICLE GO TO LINK Source: PRIMAVERA MEDIKA


The MacDonald Family said...

Rajni - I've been following your blog and came across this article that I'm very intrigued by, however, I'm unable to read the link you gave - can you give a hyperlink so I can connect right to it? I'm the mom to a 4 year old rett angel. You can check out our blog at Thanks.

Rajni Khajuria said...

Dear Bridge,

Thanks for following my blog and I have gone through your blog also. It is really very interesting. Your angels are very beautiful. God bless all.

Bridge, Please click on the title of the topic and you will be on the site of the article.

I hope it will work, try it and let me know.

God Bless you,

Love, Hugs, Prayers,