Indian Journal of Genetics and Molecular Research

Introduction: Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism. The classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features. There are only 200 cases reported worldwide. Aim: To report 3 cases from the same family and the index patient having a classical presentation. Case: Eldest female and two males, who display congenital ichthyosis, whose parents have no such symptoms. Both males complained of diffuse scales all over the body with mild erythema and severe itching, since birth, no history of blisters was present. Nails, teeth, hair and sweating were normal. They had itching all over the body with accentuation over flexural areas. The youngest has neurological as well as psychiatric problems as Bipolar disorder. Discussion: Mental retardation is common, depressive episodes are a common sequlae, however clear bipolar illness is not reported. Some behavioral phenotypes of ADHD have been reported in the literature . Seizures are commonly reported, however our index patient did not have any history. Most studies on icthyosis give a similar picture as above cases.

Currently, there is no curative therapy for Duchenne muscular dystrophy (DMD), but several clinical trials are in progress. It is important to confirm diagnosis using molecular biology techniques. We discuss the molecular approach to diagnosis, limitations of various diagnostic methods and relevance in the light of various emerging therapies. Methods: We retrospectively studied 35 children, aged 3 to 18 years, with clinical phenotype of DMD and study of the dystrophin gene. Results and conclusion: 34 of the 35 children had a confirmed genetic diagnosis. One patient with negative genetic analysis had undergone muscle biopsy and immunohistochemistry for confirmation. New emerging therapies and clinical trials in this field demand an accurate diagnosis, especially when therapy is targeted towards specific mutations. In cases with no specific mutations, final diagnosis needs to be confirmed as well as other dystrophies ruled out in order to guide prognosis, preventive strategies, and family counselling.

Candida is a commensal & present in moist region of the human body. It also acts as an opportunistic pathogen that is prevalent in immunocompromised patients such as in case of HIV, hepatitis B, Cancer or also in diabetic patients. In COVID19 era, it also causes no. of cases in COVID19 patients due immunosuppression. It also known by name i.e. white fungus. The numbers of cases mainly increase in patients who are hospitalized due to the COVID19, because in hospital there are number of resistance organisms which are present in hospital environment.C. auris is reported in India but also in all over the world. Rise of antifungal resistance in Candida also become a big problem for public health sector. Due to this, Candida acquired resistance against azole, polynes & echinocandins. This resistance mechanism increased due to over expression of genes such as SNQ2, TPO3, ABC1, ERG11, ERG2, ERG3, ERG5, ERG6 which gain in function through mutation in the transcription that leads to alteration in gene expression that cause increase in drug efflux pumps, increased concentration of lanosterol 14α-demethylase & point alteration in which ergosterol content decreased in cells. Diagnosis can be done by multiplex PCR technique, to know the gene which responsible for antifungal drugresistance in that particular Candida specie.