International Journal of Applied and Basic Medical Research最新文献

Objective: The objective of the study was to study the safety and efficacy of subtenon injection of mitomycin C (MMC) versus sponge application of MMC during trabeculectomy.

Materials and methods: Thirty-seven patients having primary glaucoma warranting trabeculectomy were enrolled in the study and their forty eyes were alternately allocated into either of the two groups: subtenon injection (ST) of 0.1 mL of 0.01% of MMC or sponge application (SP) of 0.02% of MMC and were operated by a single surgeon and followed for 3 months. The outcome was analyzed primarily based on reduction in intraocular pressure (IOP) and bleb morphology.

Results: Similar outcome in terms of complete success (ST - 90% and SP - 85%), qualified success (ST - 5% and SP - 5%), and failure rate (ST - 5% and SP - 10%) was seen at the end of 3 months. The absolute reduction in IOP from the baseline was -10.00 ± 3.67 mmHg (-41.2% ± 12.30) in ST versus -8.90 ± 5.56 mmHg (-35.9% ± 16.1) in the SP group at the end of 3 months. At the end of 3 months, blebs in the ST group had low-to-medium height and in the SP group had low height. Blebs in both the groups were diffuse with mild vascularity. Antiglaucoma medications required postoperatively were 0.20 ± 0.62 versus 0.40 ± 1.10 in the ST and SP group, respectively. The duration of surgery was 19.85 ± 0.75 min in the ST group versus 22.50 ± 0.51 min in the SP group.

Conclusion: Subtenon injection of MMC is as efficacious and safe as the conventional sponge application technique.

Objectives: Ultra-short heart rate variability (HRV) metrics represent autonomic tone parameters derived using small epochs of interbeat interval data. These measures have risen in popularity with the advent of wearable devices that can capture interbeat interval data using electrocardiography (ECG) or photoplethysmography. Autonomic neuropathy in diabetes mellitus (DM) is well established, wherein 5-min HRV is conventionally used. Ultra-short measures have the potential to serve as markers of reduced autonomic tone in this patient population.

Methods: Data of patients with Type I and Type II DM who had presented to our laboratory for autonomic neuropathy assessment were chosen for analysis. One-minute and 2-min epochs were chosen from 5 min of ECG data using standard software. Time domain, frequency domain, and nonlinear measures were computed from 1 to 2 min epochs, and reliability was compared with measures derived from 5-min HRV using intraclass correlation coefficients (ICCs).

Results: Data of 131 subjects (79 males, 52 females; mean age = 53.3 ± 12.16 years) were analyzed. All ultra-short HRV measures derived from 1 min to 2 min data showed good to excellent reliability (median ICC values ranging from 0.83 to 0.94) when compared with 5-min metrics. The notable exception was very low frequency (VLF) power, which showed poor reliability (median ICC = 0.43).

Conclusions: Ultra-short HRV metrics derived from 1 to 2 min epochs of ECG data can be reliably used as predictors of autonomic tone in patients with DM. VLF power is poorly reproducible in these small epochs, probably due to variability in respiratory rates. Our findings have implications for ultra-short HRV estimation using short epochs of ECG data.

Background: Thermal threshold testing (TTT) is a simple non-invasive approach for diagnosing diabetic neuropathy earlier. Conventionally the TTT is done in all four limbs and at least 6 trials are done to obtain the mean threshold, which is time consuming.

Aim: We propose to assess the validity and reliability of reduced number of trials of TTT in the lower limbs.

Materials and methods: After obtaining ethics approval from the Institute Ethics Committee, 100 patients with type 2 Diabetes Mellitus of both gender between the ages of 35 to 65 years attending medicine OPD were recruited. Neuropathy assessment was done using Temperature threshold testing. At least 6 trials were performed for each site and the mean threshold obtained. The mean of 5 trials, 4 trials and 3 trials were noted for the comparison.

Results: On comparing hot tests of 3 trials with 6 trials had a sensitivity and specificity of 88.7% and 96.6 %. In cold threshold testing, 4 trials and 3 trials showed similar results of sensitivity of 77.8%, specificity of 98.8%. The measures of agreement between the hot trials 6 vs 5 had Kappa value of 0.953, 6vs 4 showed a Kappa value of 0.862 and 6 vs 3 showed Kappa value of 0.819.

Conclusion: Hot threshold tests of lower limb are more sensitive than cold thresholds. The 4 trial test is a reliable test and can be performed over 6 trial tests. When time is a factor, three trials are sufficient to diagnose small fibre neuropathy.

Giant basal-cell carcinoma (BCC) is a rare subtype of BCC which is characterized by aggressive biological behavior with extensive local invasion, frequent metastasis, and poor prognosis. It arises almost exclusively on hair-bearing skin. It has been rarely reported on sole. Various pathogenic factors such as arsenic exposure, ionizing radiation, repeated trauma, and hereditary syndromes have been implicated. A combination of optical coherence tomography and reflectance confocal microscopy can provide useful information for both depth and horizontal extension of tumor and could be used before surgery to explore subclinical extension. Wide local excision of the lesion with histologically confirmed negative margins for the reconstruction of the defect, followed by adjuvant chemoradiation gives a better outcome compared to radiotherapy or chemotherapy alone. Chemotherapy with cisplatin-based treatment is the most common regimen. We report a case of giant BCC on the sole in an elderly male. After excision, the defect was treated with skin grafting.

Background: Fabry disease is an under-recognized X-linked lysosomal storage disorder characterized by the accumulation of trihexosylceramides in multifarious tissues, leading to end-organ damage, including progressive renal failure. Antecedent screening studies worldwide have shown inconsistent prevalence in the hemodialysis population. We conducted this study to screen for Fabry disease in patients undergoing dialysis at a tertiary care hospital.

Materials and methods: All patients undergoing dialysis were screened with a gal assay using dried blood spots (DBS) on filter paper using the fluorescence method. Patients with positive DBS test results were further tested for underlying mutations.

Results: A total of 112 patients (64.3% males and 35.7% females) on dialysis were screened. Nineteen patients (13 males and 6 females) were found to have low enzyme activity on DBS. Further mutation analysis confirmed that one female patient had Fabry disease. The mutation detected was a heterozygous missense variation in exon 7 of the GLA gene, which resulted in the amino acid substitution of histidine for arginine at codon 363 (p.Arg363His). Subsequent screening of the family members revealed that the son of the patient was asymptomatic and carried the same genotypic mutation. Genetic counseling was performed, and enzyme replacement therapy was offered to both patients.

Conclusions: Fabry disease remains underdiagnosed, especially in high-risk populations such as those undergoing dialysis. DBS is a convenient and effective screening tool for Fabry disease. Facilities should be augmented for similar screening studies in the dialysis population.

Background: Aerobic glycolysis has recently demonstrated promising potential in mitigating the effects of ischemia-reperfusion (IR) injury. Scutellarin (Scu) possesses various cardioprotective properties that warrant investigation. To mimic IR injury in vitro, this study employed hypoxia/reoxygenation (H/R) injury.

Methods and results: First, we conducted an assessment of the protective properties of Scu against HR in H9c2 cells, encompassing inflammation damage, apoptosis injury, and oxidative stress. Then, we verified the effects of Scu on the Warburg effect in H9c2 cells during HR injury. The findings indicated that Scu augmented aerobic glycolysis by upregulating p-PKM2/PKM2 levels. Following, we built a panel of six long noncoding RNAs and seventeen microRNAs that were reported to mediate the Warburg effect. Based on the results, miR-34c-5p was selected for further experiments. Then, we observed Scu could mitigate the HR-induced elevation of miR-34c-5p. Upregulation of miR-34c-5p could weaken the beneficial impacts of Scu in cellular viability, inflammatory damage, oxidative stress, and the facilitation of the Warburg effect. Subsequently, our investigation revealed a decrease in both ALDOA mRNA and protein levels following HR injury, which could be restored by Scu administration. Downregulation of ALDOA or Mimic of miR-34c-5p could reduce these effects induced by Scu.

Conclusions: Scu provides cardioprotective effects against IR injury by upregulating the Warburg effect via miR-34c-5p/ALDOA.

A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence in situ hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.