Australasian Medical Journal
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Early infantile epileptic encephalopathy 3 - A rare disorder: Case report
Get PDFEarly infantile epileptic encephalopathy is a severe form of epileptic encephalopathies which is characterized by the onset of generalized or lateralized tonic spasms within 3 months of life. These spasms are not dependent on sleep cycle and can occur hundreds of times per day, which may lead to psychomotor impairment and death. EIEE may be caused by different etiologies. Structural brain abnormalities, metabolic disorders or genetic abnormalities in certain genes can lead to EIEE. Interictal ‘Suppresion Burst’ EEG pattern is characteristic of EIEE. We are reporting this infant who showed neurodevelopmental delay and severe psychomotor impairment. He received inj. ACTH therapy and oral steroids along with multiple anticonvulsants, which showed only marginal improvement. He was diagnosed as having Early Epileptic Encephalopathy-3, due to SLC25A22 gene, (also named ‘GC1’, MIM #609302, NM_024698), which encodes a mitochondrial glutamate carrier, responsible for an autosomal recessive form of neonatal epileptic encephalopathy, hence parents were studied for the gene defect, although they were asymptomatic. In both the parents, SLC25A22 gene was detected on exon 2 on chromosome11 in heterozygous form. Parents were counselled regarding poor prognosis of baby. At the age of 15 months of life, baby succumbed to death
Editor’s Note
Get PDFWe are pleased to bring you the ninth issue of 2022. Along with few original papers and case studies, for this issue we decided to acknowledge the contributions during this COVID-19 pandemi
Prevalence of Mood Disorders Amongst Dermatological Patients in a Tertiary Care Hospital
Get PDFObjectives: The prevalence of psychiatric conditions among dermatology clinic patients is quite high. This study aims to assess and measure the prevalence of anxiety and depression disorders, and to assess any significant association with clinical, social, and epidemiological variables.Methods: The study is a cross-sectional study conducted at King Abdulaziz Medical City, Jeddah, Saudi Arabia. Hospital Anxiety and Depression Scale (HADS) was used and delivered to patients attending the dermatology clinic from 2019 to 2020. .Results: Out of the total 305 patients, 135 (44.3%) were males and 170 (55.7%) were females. The mean age of this study’s participants was 37.13 ± 15.24. Almost sixteen percent of the patients’ anxiety score was abnormal, and 17.5% of the patients’ depression score was abnormal. Anxiety was significantly associated with both male gender (P= 0.008), and severity of the disease ( P
Management of phyllodes tumour (Arbuda): A case report
Get PDFBreast lumps of benign types are the commonest type of breast disease amongst 40 per cent of female population. The chances of the growth being malignant make patients apprehensive. Phyllodes tumour involving the stroma of the breast is a common among females of around 40 years of age. Acharya Sushruta has advised Chedana of Arbuda i.e. excision of tumour to avoid recurrence. Considering the chances of recurrence surgical treatment of phyllodes is successful if excision is clubbed with mastectomy of the surrounding breast tissue. A 65 years woman suffering from breast lump for 2 years was diagnosed with Phyllodes tumour clinically as well as with radiological aids. Malignancy was ruled out as per diagnostic criteria. Excision of the lump with 1cm margins was carried out as per surgery protocol. Biopsy report confirmed the diagnosis of benign phyllodes tumour. Patient has been stable since last one and a half year and recurrence has not been noticed. Thus, it can be concluded that an organised approach towards benign lesion like phyllodes tumour can help to alleviate anxiety and fear of patients
Clinical and Medical Research in Australasian Regionl
Get PDFThe studies included in this report summarizes novel insights, current developments, and observations that were specific to the region and provides an excellent opportunity to the diverse research groups all across the world to interpret the research trend and emerging medical science challenges in the Australasian region.
