International Journal of Applied and Basic Medical Research最新文献

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: 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.

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.

Background: Pregnancy is the state of carrying a developing embryo or fetus within a female body. Once pregnancy is established, a range of endocrinological events appear in its maintenance, finally helping in the successful pregnancy. The complications which are usually observed in pregnancy are gestational diabetes, preeclampsia, preterm labor, and spontaneous pregnancy loss or miscarriage, while 10%-15% of clinically recognized pregnancies terminate into spontaneous miscarriage. Thus, many attempts have been made by different researchers for the diagnosis of high-risk pregnancy on altered protein pattern using placental villous tissue or follicular fluid, but these are difficult to obtain and results of different studies are not constant.

Aim: This study was designed to identify the association (if any) among serum protein(s) electrophoretic pattern and different serum hormones in normal pregnant women (controls) and gestational age-matched women with spontaneous pregnancy loss (cases).

Materials and methods: This study was carried out for 1½ year from October 2018 to March 2020 and included 120 participants (60 normal pregnant women and 60 women with spontaneous pregnancy loss) between 20 and 45 years of age with no mean age difference. The electrophoresis of serum was carried out using slab gel electrophoretic unit and serum thyroid-stimulating hormone (TSH), total tri-iodothyronine (TT₃), total thyroxine (TT₄), prolactin, and beta human chorionic gonadotropin (β-hCG) levels were analyzed using TSOSH AIA analyzer at Adesh University, Bathinda.

Results: Significant variations in the expression of proteins with molecular weight around ~150 kDa, ~50 kDa, and ~25 kDa were observed in normal pregnant women and women with spontaneous pregnancy loss. However, the protein band of ~50 kDa was found to be highly expressed in the serum of 1^st and 2^nd trimester women experiencing spontaneous pregnancy loss. Therefore, selected protein band of ~50 kDa was further processed by ECI-mass spectrophotometry QUAD time of flight and 365 different proteins were found, out of these; 34 proteins were found to be unidentified protein products (Verified using NCBI data base). Further, TT₃, total proteins, β-hCG, and prolactin level were found to be low, whereas, TSH was found to be high in women experiencing spontaneous pregnancy loss. However, difference in the level of β-hCG in the 1^st trimester and TT₄ among normal pregnant women and women with spontaneous pregnancy loss was observed to be statistically insignificant.

Conclusion: This study indicated that the evaluation of serum protein variations along with hormonal profile may provide valuable information about high-risk pregnancy. Moreover, the differential expression of proteins in women w

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.

Dentinogenic ghost cell tumor (DGCT), a variant of the calcifying odontogenic cyst, is considered to be a benign epithelial and mesenchymal neoplasm containing aberrant epithelial keratinization, ghost cells, and spherical calcifications. While there can be peripheral and central variants of this entity, the extraosseous type is rarer and usually innocuous in its clinical presentation. The aim of this article is to report a case of peripheral DGCT on the maxillary anterior region in a 14-year-old female evolving for 5 years and to emphasize the importance of histopathologic examination of gingival growths to avoid diagnostic pitfalls. A compilation of all reported cases in the English literature till date with details on the site, size, age sex, symptoms radiographic features, treatment follow-up, and recurrences has been attempted for better understanding of the biologic nature of this rare neoplasm.

Rare coagulation disorders pose significant diagnostic challenges emphasizing the importance of clinical vigilance and meticulous hemostatic workup for accurate diagnosis and timely management. We present two cases of exceptionally uncommon coagulopathies - isolated factor V deficiency (F5D) and combined factor V and VIII deficiency (F5F8D). Case 1 features a 24-year-old woman incidentally diagnosed with severe F5D during routine preoperative evaluation for an ovarian cyst. Despite the absence of any reported bleeding manifestations, a timely and accurate diagnosis was rendered. Perioperative management with fresh frozen plasma and postoperative monitoring ensured favorable surgical outcomes. Case 2 features a 10-year-old male presenting with prolonged gum bleeding. Following systematic hemostatic workup, a diagnosis of F5F8D was rendered, thereby guiding optimal therapeutic interventions. We herein aim to contribute valuable insights into the understanding of coagulation physiology and the diagnostic intricacies and management strategies of rare coagulation disorders.

Background and objectives: Acute pancreatitis (AP) scores need a battery of tests that are not helpful at an early stage. Can a single test predict Complicated Acute Pancreatitis (CAP) which includes moderate and severe AP, local complications, and need for intensive care unit (ICU).

Methodology: 30 patients of AP. D-dimer, C-reactive protein levels done within 3 days of AP onset. APACHE II, Ranson's score, CT severity index were done. Inhospital disease course for development of organ failure and need for ICU care was followed daily.

Results: D-dimer in CAP was 2732 ng/L (MAP 567 ng/L), in abnormal computed tomography (CT) was 1916 ng/L (normal CT 363 ng/L), and in organ failure was 4776 ng/L (776.5 ng/L absent organ failure). D-dimer increases as the severity of organ failure increases (P = 0.04). D-dimer in ICU patients was significantly elevated (P = 0.021). D-dimer correlates with APACHE II score well, with an increase in predictive mortality rate (P = 0.01). On receiver operator characteristics, D-dimer >933.5 ng/L predicts CAP, >827.5 ng/L predicts positive CT findings (local complications), and >1060.5 ng/L predicts the development of organ failure.

Conclusion: Coagulopathy and microthrombi play a significant role in early pathogenesis. D-dimer test acts at the level of this core pathogenesis, even before the complications set in. D-dimer within 72 h of AP correlates well with the CT findings after 72 h. This is the first study that correlates D-dimer levels with CT scores, ICU requirement. D-dimer can guide primary care physicians in selecting AP patients for referral to a higher center in a resource-limited setting.

Filariasis is a major public health concern in tropical and subtropical countries like India with Wuchereria bancrofti accounting for 90% of lymphatic filariasis. Rarely observed are extra lymphatic manifestations caused by interaction of immune system with microfilaria and their diffusible products. Among various organs involved, splenic involvement is a rare extra lymphatic manifestation of filariasis and can masquerade clinicoradiologically as metastasis when associated with a known malignancy or as a primary malignancy like lymphoma. Hereby, we present an unusual case of coincidence of splenic filariasis with pancreatic solid pseudopapillary epithelial neoplasm in a 20-year-old woman associated with peripheral blood eosinophilia.