ABSTRACT
Long QT Syndrome (LQTS), a disorder of the cardiac repolarization process with prolongation of the QT interval (QTc ≥0.46 seconds), is an ion-channelopathy. Mutations in either KCNQ1 or KCNE1 genes are susceptible to LQTS. Hence, screening of KCNQ1 and KCNE1 genes is taken up to evaluate the genetic correlation of these genes in Long QT patients of Indian origin. A total of 33 Long QT Syndrome patients and 100 healthy subjects were enrolled for the present study. PCR-SSCP protocol was utilised for screening of KCNQ1 and KCNE1 genes followed by In-silico and statistical analysis. The clinical profile of the Long QT syndrome patients in our study revealed a higher percentage of females with the mean age also being higher in females when compared to males. The two variations (S546S and IVS13+36A>G) in KCNQ1 and the S38G polymorphism in KCNE1 gene were identified and their association with Long QT syndrome is being reported for the first time in Indian population. S546S is located in the KCNQ1 C terminus close to this domain and IVS13+36A>G is located in the intronic region in close proximity to the coding region for C-terminal domain; these may therefore affect the functional protein through non-assembly. S38G leads to a substitution of serine to glycine at 38th amino acid position (S38G) in the transmembrane domain of KCNE1. Our study reports compound heterozygosity/genetic compound ofS546S and IVS13+36A>G of KCNQ1 gene. Haplotype frequencies and linkage disequilibrium analysis revealed a significant association between the three biomarkers. Compound heterozygosity of the polymorphisms influence downstream signalling and KCNQ1- KCNE1 interactions.
ABSTRACT
A 5 year old boy and a 10 year old girl presented with acute onset of psychotic disorder, which occurred one week after an upper respiratory infection. MRI images of brain were consistent with the diagnosis of acute disseminated encephalomyelitis (ADEM) in both cases. ADEM is one of the differential diagnoses to be considered when acute psychotic disorder occurs during childhood.
Subject(s)
Acute Disease , Anti-Inflammatory Agents/therapeutic use , Antipsychotic Agents/therapeutic use , Child , Child, Preschool , Diagnosis, Differential , Encephalomyelitis, Acute Disseminated/diagnosis , Female , Haloperidol/therapeutic use , Humans , Magnetic Resonance Imaging , Male , Methylprednisolone/therapeutic use , Neuroprotective Agents/therapeutic use , Psychotic Disorders/diagnosis , Risperidone/therapeutic useABSTRACT
A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.
Subject(s)
Bone Marrow Diseases/diagnosis , Child, Preschool , Diagnosis, Differential , Dyskeratosis Congenita/diagnosis , Fatal Outcome , Female , Humans , Intellectual Disability/diagnosis , Retinal Detachment/diagnosis , Retinitis Pigmentosa/diagnosis , SyndromeABSTRACT
A 6 year old girl was admitted with recurrent episodes of loss of consciousness. ECG showed prolonged QT interval and macroscopic T Wave alternans. Identification of this ECG pattern is important since it can lead to potentially lethal arrhythmias.
Subject(s)
Anti-Arrhythmia Agents/therapeutic use , Child , Electrocardiography , Female , Humans , Long QT Syndrome/complications , Propranolol/therapeutic use , Recurrence , Unconsciousness/etiologyABSTRACT
Aneurysm of the vein of Galen is a rare intracranial vascular malformation. It is known to have diverse manifestations and varying severity. Four cases with different modes of presentation and outcome are reported. A mortality of 50 per cent was encountered. Among the survivors, one had neurologic sequelae whereas the other had attained age-appropriate developmental milestones. The former was a rare case of spontaneous thrombosis of the aneurysm while the latter was a boy who underwent therapeutic embolization.