Publications by authors named "C Pani"
Background: Plerixafor is used for patients at risk of Stem cell mobilization failure based on clinical factors or low peripheral blood CD34 count. It is also added upfront to any mobilization irrespective of risk factor, but the cost-effectiveness of the approach is an issue. Data on plerixafor in different settings of autologous hematopoietic stem cell (HSC) collection from India are scant.
View Article and Find Full Text PDFThe molecular landscape of tumors has been traditionally established using a biopsy or resection specimens. These modalities result in sampling bias that offer only a single snapshot of tumor heterogeneity. Over the last decade intensive research towards alleviating such a bias and obtaining an integral yet accurate portrait of the tumors, evolved to the use of established molecular and genetic analysis using blood and several other body fluids, such as urine, saliva, and pleural effusions as liquid biopsies.
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- Spinocerebellar Ataxia 38 (SCA38) is linked to a mutation in the ELOVL5 gene, leading to low levels of serum docosahexaenoic acid (DHA), but DHA supplementation has shown short-term benefits.* -
- A 2-year study with nine SCA38 patients evaluated the long-term effects of daily 600 mg DHA, showing sustained improvement in clinical symptoms and increased cerebellar metabolism without any side effects.* -
- The findings suggest that long-term DHA supplementation is a viable treatment option for individuals with SCA38.*
Article Synopsis
- Spinocerebellar ataxia 38 (SCA38) is linked to mutations in the ELOVL5 gene, leading to reduced levels of docosahexaenoic acid (DHA), a crucial fatty acid, which negatively impacts patients' health.* -
- A study involving 10 SCA38 patients showed that after 16 weeks of DHA supplementation, clinical improvements were significantly greater compared to a placebo group, and continued benefits were observed after 40 weeks of treatment.* -
- The research indicated that DHA is a safe and effective treatment for SCA38, resulting in improved clinical symptoms and brain function without any reported side effects.*
Purpose: Jeune syndrome (JS, also described as asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Significant life-threatening cervical spine abnormalities can be typical.
Method: Here we describe the case of a male infant of Sardinian origin, who developed respiratory distress and feeding difficulties from the first months, correlated with muscle\skeletal dysmorphism prevalent on chest.