Kims Bibi Hospital

Dyslipidemia is a known risk factor for cardiovascular (CV) diseases. Low-density lipoprotein cholesterol is considered the primary target in dyslipidemia management. Recently, interest has grown in the roles of lipoprotein(a), remnant cholesterol, and non-high-density lipoprotein cholesterol as alternative, reliable goals. These markers are advantageous as they are easily estimated, do not require fasting, and provide dependable parameters for predicting atherosclerotic CV disease risk. Evolving data on these parameters in Indian women may help assess CV risk in this population.

Abstract Background Perianal fistulas affect one-third patients with Crohn’s disease with limited therapeutic options. There is dearth of literature on safety and efficacy of bone marrow-derived mesenchymal stromal cells in this population. Methods An open-label, phase I/II, single-arm study was conducted involving local administration of human allogeneic bone marrow-derived mesenchymal stromal cells in perianal fistula of patients with Crohn’s disease refractory to standard therapies. Clinical severity and biomarkers were assessed at baseline and periodically till 104 weeks, and MRI at 24 and 104 weeks. Primary and secondary objectives were to assess safety and efficacy respectively. Fistula remission was complete closure of fistula openings with <2cm perianal collection on MRI, and fistula response was decrease in drainage by ≥50%. Change in perianal disease activity index, quality-of-life and Van Assche index on MRI over time was assessed using mixed-effect linear regression model. Results Ten patients (male:8, mean age:27.4±12.0years) were recruited. Self-resolving procedure-related adverse events occurred in three patients, with no follow-up adverse events. In intention to treat analysis at week 24, two patients (20%) achieved fistula remission and seven (70%) had fistula response. At week 52, two (20%) patients were in remission and seven (70%) maintained response. At 104 weeks, two (20%) patients maintained response and one (10%) was in remission. Statistically significant decrease in perianal disease activity index(P=0.008), Van Assche Index(P=0.008) and improvement in quality-of-life(P=0.001) were observed over time. Conclusion Allogeneic BMSCs are safe and effective for the treatment of PF in CD with significant improvement in clinical severity and radiological healing.

A 3-year-old boy, firstborn to nonconsanguineous parents, presented with motor development delay and floppiness of bilateral lower limbs since birth. No significant family history presented at time of check-up. He could stand with support, eat with a spoon without spillage, and speak in two-word sentences. There was no history suggestive of cranial nerve impairment. Examination revealed normal head circumference, dry, scaly skin lesions on the trunk, distal weakness with sluggish deep tendon reflexes in bilateral lower limbs, and a high stepping gait. Nerve conduction studies revealed demyelinating polyneuropathy. Brain stem-evoked response audiometry testing revealed auditory neuropathy. Clinical exome sequencing revealed a known pathogenic variant of 3325C > T in the SH3TC2 gene suggestive of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with a novel variant of 2218C > T in the FLG gene. We have reviewed the available literature for reported associations of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris. This is probably the first reported association of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with bilateral hearing loss.

Coronavirus disease-2019 (COVID-19) infection, caused by severe acute respiratory syndrome coronavirus 2, is primarily a respiratory illness. The sequelae have been observed affecting multiple organ systems, adding to the morbidity and mortality of the disease. It has also been shown to have adverse effects on lipid profile in some case studies. Acute pancreatitis (AP) post-COVID-19 infection has been described previously. Hypertriglyceridemia (HTG) is a well-described cause of AP. Here, we report patients presenting with post-COVID-19 infection with HTG causing AP.