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Background: Mucormycosis is a life-threatening infection of the paranasal sinuses and nasal cavities that can easily spread to the orbit and the brain. It is caused by fungi of the family Mucoraceae. We present a case series of 61 patients diagnosed and treated for rhinocerebral mucormycosis (RCM) at a single tertiary health care center. Methods: After obtaining ethical clearance, all patient files with a final diagnosis of RCM were thoroughly analyzed in departmental records and a master chart was prepared. The study evaluated the etiology, clinical spectrum, diagnosis, management, complications, and outcome at 3 months of RCM cases. Results: About 93.4% of the RCM cases were diabetic and an equal number had a past history of COVID infection. About 85.2% had received steroids for the treatment of coronavirus disease 2019 infection. The most common presentation of RCM was temporal lobe abscess (25.7%) followed by frontal lobe abscess (16.6%). At 3 months post-diagnosis, mortality in our study was 42.6%. About 26.2 % of the RCM cases had no disease, 23% had a static disease, and 8.2% had progressive disease at the end of 3 months. Conclusion: We report the largest single-center case series of RCM, comprising 61 patients. This case series underscores the importance of the early diagnosis and prompt treatment for a better prognosis for this dreadful disease. The three pillars of treatment for RCM cases include reversal of the immunosuppressive state, administration of antifungal drugs, and extensive surgical debridement. In spite of all this, mortality remains high.
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BACKGROUND: Degenerated disc disease (DDD) is a common disorder responsible for increased morbidity in a productive age group. Its etiology is multifactorial and genetic factors have been predominantly implicated. Disc prolapse results due to tear in the annulus, which is a fibrous structure composed largely of type I collagen. Functional polymorphism at the Sp1 site of the collagen I alpha 1 (COL1A1) gene has shown a positive association with DDD in Dutch and Greek populations. The purpose of this study was to assess COL1A1 Sp1 gene polymorphism in the Indian population. MATERIALS AND METHODS: Fifty clinically and radiologically proven patients with disc prolapse requiring surgery were included as cases and 50 healthy, age-matched volunteers served as controls. After isolating DNA from their blood sample, genotyping for COL1A1 polymorphism (rs1800012) was performed and identified as GG, GT, and TT. RESULTS: The mean age and body mass index in cases and controls were similar. 76% of the patients were males. The most common site of disc degeneration was L4-L5 (36%), followed by L5-S1 (34%). Homozygous-GG, heterozygous GT, and homozygous TT genotypes were seen in 38 (76%), 10 (20%) and 2 (4%) cases respectively, controls had similar percentage of genotypes as well. The alleles in cases and the control group showed no significant difference (P = 0.6744) and followed the Hardy-Weinberg Equilibrium in the study population. CONCLUSION: The COL1A1 (rs1800012) is in Hardy-Weinberg equilibrium in the present subset of Indian population. But taken as a single factor, it was not found to be associated with DDD in this preliminary study. Disc degeneration is multifactorial and also anticipated to be a result of multiple genes involvement and gene-gene interaction.
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Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6(th)-8(th) ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.