A 72-year-old female with symptomatic cholelithiasis was posted for laparoscopic cholecystectomy. She had been previously posted for the same surgery at a different center, but the surgery was not performed due to failed intubation. On airway examination, reduced thyromental distance, prominent incisors, and retrognathia were observed.
View Article and Find Full Text PDFBackground: Certain anthropometric measurements that are practically obtainable explain the variability in the spread of spinal anesthesia. These are useful for quick assessment of the spread of spinal anesthesia to avoid the risk of high block and also the inadequate level of block.
Aims: The study aims to evaluate the effect of hip/shoulder-width ratio (HSR) on the sensory level of spinal anesthesia.
Tuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either or genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis.
View Article and Find Full Text PDFBackground: Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer that senses specific cell growth conditions to control mTORC1 signalling.
Methods: In the present study 98 TSC patients were tested for variants in TSC1 and TSC2 genes and 14 novel missense variations were identified.
Autism is a complex neurodevelopmental disorder, which has captured the attention of not only pediatricians but also the parents. From the symptoms until the final diagnosis, parents undergo a diagnostic odyssey that involves a battery of tests without much yield. This has led to an increase in the referrals to the clinical geneticists to rule out the possible genetic etiology that can have implications for the parents for future pregnancy.
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