Chromosome structural alteration an unusual abnormality characterizing human neoplasia

Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder. The present review has focused on the ring chromosome associated with oncology malignancies

Materials and Methods: By reviewing the web-based search for all English scientific peer review articles published, was initiated using Medline/PubMed, Mitelman database [http:/cgap.nci.nih.gov/Chromosomes/Mitelman], and other pertinent references on websites about ring chromosomes in Oncology. The software program as End Note was used to handle the proper references for instruction to author. Karyotype descriptions were cited according to ISCN

Conclusion: Ring chromosomes are rare chromosomal aberrations, almost many times are of de novo origin, presenting a different phenotype regarding the loss of genetic material. The karyotype represents the main analysis for detection of ring chromosomes, but other molecular technics are necessary for complete characterization. The information of this review article adds to the spectrum of both morphology and genetic rearrangements in the field of oncology malignancies

comparison of buccal midazolam and intravenous diazepam for the acute treatment of seizures in children

The purpose of the present study is to compare efficacy and safety of buccal midazolam with intravenous diazepam in control of seizures in Iranian children. This is a randomized clinical trial. 92 patients with acute seizures, ranging from 6 months to 14 years were randomly assigned to receive either buccal midazolam [32 cases] or intravenous diazepam [60 cases] at the emergency department of a children's hospital. The primary outcome of this study was cessation of visible seizure activity within 5 minutes from administration of the first dosage. The second dosage was used in case the seizure remained uncontrolled 5 minutes after the first one. In the midazolam group, 22 [68.8%] patients were relieved from seizures in 10 minutes. Meanwhile, diazepam controlled the episodes of 42 [70%] patients within 10 minutes. The difference was, however, not statistically significant [P=0.9]. The mean time required to control the convulsive episodes after administration of medications was not statistically significant [P=0.09]. No significant side effects were observed in either group. Nevertheless, the risk of respiratory failure in intravenous diazepam is greater than in buccal midazolam. Buccal midazolam is as effective as and safer than intravenous diazepam in control of seizures

Hereditary spastic paraplegia: from gene to clinic

Hereditary Spastic Paraplegia [HSP] is a degenerative disease of genetic origin affecting the corticospinal tracts in the spinal cord. There are three forms of inheritance: Autosomal dominant HSP, Autosomal receive HSP and X-linked HSP. This disease is characterized by progressive spasticity of leg muscles with varying degrees of stiffness and weakness of other muscle groups. In this review, we will discuss the latest findings on the pathophysiology of axonal degeneration and all the responsible genetic defects in HSP

effect of the ketogenic diet on the growth and biochemical parameters of the children with resistant epilepsy

The aim of this study was to evaluate the effect of the ketogenic diet on the growth parameters of the children with resistant epilepsy. A total of 36 children with resistant epilepsy who were 2 to 7 year old were put on the ketogenic diet. Their growth and biochemical parameters were studied at the beginning of the study and after 3 months. Weight decreased in all patients. Serum levels of hemoglobin, calcium, and blood sugar decreased significantly but remained in the normal range. Creatinine did not change, but BUN showed a significant increase. We can lower the complications of ketogenic diets by using more unsaturated fat, more water, and more minerals

[Genetics of cerebral palsy]

Cerebral palsy [CP] has been defined as a group of disorders of the development of movement and posture, causing activity limitation, that are attributed to non progressive disturbances that occurred in the developing fetus or infant. It is the most prevalent chronic childhood motor disability and is one of the most disabling and costly chronic disorder of children and adults. Prenatal risk factors have been identified in 70-80% of term infants who develop CP, with intrapartum complications such as asphyxia, infections or trauma playing a role only in 10-20% of these infants. There are multiple lines of evidence that strongly point toward genetic factors in CP. This would include familial data, specific identified genetic factors, twin studies, parental age studies, and the high rate of occurrence of multiple minor dysmorphic features in the CP population. Like most medical conditions, CP exhibit complex inheritance. The best model of the inheritance of cerebral palsy is "multi factorial inheritance". This model implies etiologic and genetic heterogeneity with complex interactions with environmental influences. A summary of major categories of prenatal/genetic etiologies in CP would include [1] prematurity [2] primary genetic disorders and syndromes [3] inborn error of metabolism [4] heritable thrombophilias and [5] cerebral dysgenesis and teratogenic influences. In this article we will have a brief discussion of the known genetic influences on the origin of cerebral palsy

[Genetics of infantile nervous system channelopathies]

Channelopathies may present in infantile and childhood periods as paroxysmal disorders with different manifestations in neurologic, cardiac and neuromuscular system. These channelopathies include genes encoding voltage-gated channels specific for sodium [SCN1A, SCN2A, SCN1B, SCN9A] and potassium [KCNQ2, KCNQ3] which account for a variety of epilepsy phenotypes ranging from mild, such as Benign familial neonatal seizures [BFNS] to severe, such as Dravet syndrome [severe myoclonic epilepsy of infancy, SMEI] and the rare and unusual syndrome. Paroxysmal extreme pain disorder [PEPD]. Ligand-gated channels involved include the GABAA receptor in a variety of epilepsy phenotypes and the human glycine receptor. Mutations in five genes encoding subunits of this receptor and accessory molecules underlie hyperekplexia or stiff baby syndrome. In this article we have a brief review of these channelopathies and we hope that our readers acquire new concepts of these old diseases, not only for genetic counseling but to allow the specific treatment

[Hearing evaluation in children with meningitis by auditory brainstem response and otoacoustic emissions]

Meningitis is one of the most important causes of sensorineural hearing loss in childhood. Because of the critical situation of patients, proper attention is not usually paid to hearing assessment in meningitis. By early detection and medical intervention at proper time, the retadation of lingual development can be avoided. The hearing function of 40 children with meningitis was evaluated at 24-72 hours after diagnosis [acute period] and 24 hours before discharging from hospital [recovery period] with auditory brainstem responses [ABR]. All patients 7-14 days after discharge underwent thorough investigation by detecting otoacoustic emissions test [OAE]. Using the ABR test, during the acute period, 35 [87.5%] patients had normal hearing and in 5 [12.5%] patients severe to profound sensorineural hearing loss was detected. The same results were obtained during recovery period. OAE test showed normal hearing in 37 [92.5%] patients and impaired cochlear function in 3 [7.5%] patients. Early detection of hearing loss in the acute and recovery period of meningitis can be made by ABR and OAE tests