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1.
J Clin Exp Hepatol ; 15(1): 102378, 2025.
Article in English | MEDLINE | ID: mdl-39268479

ABSTRACT

Background: The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease, is increasing globally. Noninvasive methods, such as bioelectrical impedance analysis (BIA), which measures body composition, including visceral fat, are gaining interest in evaluating MASLD patients. Our study aimed to identify factors associated with significant liver fibrosis, compare noninvasive scores, and highlight the importance of visceral fat measurement using BIA. Methods: MASLD patients seen in our out-patient department underwent comprehensive evaluations, including liver stiffness using transient elastography, body composition analysis using BIA, and metabolic measurements. Significant fibrosis was defined as a liver stiffness measurement of ≥8.2 kPa. Using multivariate analysis, we identified factors associated with significant liver fibrosis and compared four noninvasive scores with a novel diabetes-visceral fat 15 (DVF15) score. Results: We analyzed data from 609 MASLD patients seen between February 2022 and March 2023. The median age was 43 years (81% male). Among these, 78 (13%) had significant fibrosis. Patients with significant fibrosis had higher rates of type 2 diabetes (41% vs 21%, P < 0.001) and elevated levels of aspartate aminotransferase, alanine aminotransferase, hemoglobin A1c, Fibosis-4, aspartate-aminotransferase-to platelet-ratio index, and NAFLD fibrosis scores. They also exhibited higher visceral and subcutaneous fat. Binary logistic regression revealed type 2 diabetes and a visceral fat level of >15% as associated with significant liver fibrosis. Additionally, the DVF15 score, combining these factors, showed a modest area under the receiver operating characteristic curve of 0.664 (P < 0.001). Conclusion: Our study identified diabetes and high visceral fat as factors associated with significant liver fibrosis in MASLD patients. We recommend that visceral fat measurement using BIA be an essential part of MASLD evaluation. The presence of either diabetes or a visceral fat level of >15% should prompt clinicians to check for significant fibrosis in MASLD patients. Further research is warranted to validate our findings and evaluate the utility of the DVF15 score in larger cohorts and diverse populations.

2.
Ann Hematol ; 2024 Sep 12.
Article in English | MEDLINE | ID: mdl-39264433

ABSTRACT

Response to BH3 mimetics in multiple myeloma (MM) correlates with CCND1-rearrangement or expression of anti-apoptotic molecules, particularly Bcl-2 and Mcl-1. Our study investigates the relationship between cytogenetic abnormalities (CGAs) and intracellular Bcl-2 and Mcl-1 expression in myeloma plasma cells (MPCs) using flow cytometry (FCM). We measured median fluorescence intensity (MFI) of Bcl-2 and Mcl-1 in 163 bone marrow samples (143 MM, 20 controls) across various cell types. Both Bcl-2MFI and Mcl-1MFI were significantly higher in MPCs compared to other cells, with Bcl-2 MFI exceeding Mcl-1 MFI in MPCs. Bcl-2 expression peaked in CCND1-rearranged cases, while Mcl-1 expression was highest in cases with 1q21 gain/amplification. Notably, 65-74% of cases with other CGAs exhibited moderate to strong Bcl-2 or Mcl-1 expression, indicating potential utility of BH3 mimetics in this group, while 25% showed dim to absent expression of one or both markers, suggesting potential futility in these patients. Our study highlights FCM's potential for rapid Bcl-2 and Mcl-1 quantification, surpassing traditional methods. We propose that direct measurement of Bcl-2 and Mcl-1 expression in PCs by FCM, combined with cytogenetic characterization, could improve therapeutic decision-making regarding the use of BH3 mimetics in MM, potentially enhancing outcomes and overcoming resistance.

3.
Acta Neurol Belg ; 2024 Sep 26.
Article in English | MEDLINE | ID: mdl-39322926

ABSTRACT

BACKGROUND: In leprosy, peripheral nerve involvement is well-documented, cranial nerve impairment in leprosy is less frequently reported, often through isolated case reports. This review aims to elucidate the pattern and spectrum of cranial nerve involvement in leprosy patients, enhancing understanding about pathogenesis and management. METHODS: Adhering to PRISMA guidelines, we conducted a systematic review of case reports and series documenting cranial nerve involvement in leprosy. Searches were performed across PubMed, Scopus, Embase, and Google Scholar up to February 2, 2024, without language restrictions. RESULTS: We identified 40 documents reporting on 49 patients, with a mean age of 41.3 years and a predominance of male patients (87.6%). Cranial nerve involvement included the trigeminal nerve (28.6%), facial nerve (38.8%), and instances of multiple cranial nerve palsies (10.2%). Magnetic resonance imaging findings indicated nerve T2/FLAIR hyperintensity/enhancements. Neuroimaging abnormalities extended up to brain stem. Approximately 30% of patients experienced lepra reactions, with 51% showing improvement following treatment. Following mutidrug therapy (MDT), neuroimaging abnormalities were vanished. CONCLUSION: Cranial nerve involvement in leprosy primarily affects the trigeminal and facial nerves, with multiple cranial nerves also being implicated. Exaggerated inflammation during lepra reaction involve nerve trunks and/or brainstem nuclei.

4.
Radiol Case Rep ; 19(11): 4794-4803, 2024 Nov.
Article in English | MEDLINE | ID: mdl-39228958

ABSTRACT

Cobblestone lissencephaly (C-LIS) (TYPE II) is a rare and severe neuronal migration disorder characterized by a smooth brain surface with overmigrated neurons and abnormal formation of cerebral convolutions or gyri during fetal development, resulting in a cobblestone appearance. C-LIS is associated with eye anomalies and muscular dystrophy. This case report presents a detailed clinical and neuroimaging analysis of a patient diagnosed with cobblestone lissencephaly (Type II). It reviews pertinent literature to enhance our understanding of this complex condition. We report a case of a 6-year-old female child with cobblestone lissencephaly (C-LIS) (Type II) severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) revealed a characteristic cobblestone appearance on the brain surface, indicative of abnormal neuronal migration. In addition to the classic findings of Type II Cobblestone lissencephaly, the patient displayed ventriculomegaly and cerebellar hypoplasia, contributing to the overall neurological impairment observed. The literature review highlights the genetic basis of cobblestone lissencephaly, emphasizing the involvement of genes associated with glycosylation processes and basement membrane integrity. Neuroimaging findings, including MRI and computed tomography scans, are crucial for accurate diagnosis and prognostication. Early identification of cobblestone lissencephaly allows for appropriate counseling and management strategies. However, the prognosis remains guarded, and interventions primarily focus on supportive care and seizure management. This case report contributes to the knowledge of cobblestone lissencephaly, shedding light on the clinical spectrum and neuroimaging features associated with this rare disorder. To clarify the underlying genetic mechanisms and possible therapeutic pathways for better patient outcomes, more investigation is necessary.

5.
Cureus ; 16(7): e65423, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39184775

ABSTRACT

Morphea, a form of localized scleroderma, can significantly affect individuals by causing skin tightening and discoloration. We describe the case of a 22-year-old woman who presented with progressive skin changes and discomfort in her right gluteal region following a history of an intramuscular injection in the right gluteal region. Clinical examination suggested morphea, prompting us to conduct an MRI to better understand the extent and nature of her condition. The MRI results revealed thickening of the skin layers and signs of inflammation, helping us differentiate between active inflammation and fibrosis. This case illustrates how MRI can provide crucial insights for managing morphea effectively.

6.
Biol Trace Elem Res ; 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-38995436

ABSTRACT

This cross-sectional study aimed to assess serum trace element (TE) concentrations, TNF-α gene expression, protein levels in schizophrenia (SZ) patients, and their correlation with disease severity measured by Positive and Negative Syndrome Scale (PANSS) scores. Forty SZ cases and 40 healthy controls aged 18-60 were recruited. Forty (n = 40) cases who meet ICD-10 criteria for SZ and 40 (n = 40) healthy individuals (controls) between 18 and 60 years of age were recruited in the study. Sandwich enzyme-linked immunosorbent assay (ELISA) and RT-qPCR (quantitative real-time PCR) were used to estimate pro-inflammatory cytokine TNF-α protein and gene expression. Inductively coupled plasma-optical emission spectroscopy (ICP-OES) and graphite furnace atomic absorption spectroscopy (GFAAS) were used to assess serum levels of trace elements (TEs): Fe, Zn, Cu, Mg, and Se. Compared to healthy controls, cases had significantly higher levels of TNF-α protein, as well as Fe, Cu, and Se (p < 0.05). Cu correlated positively with TNF-α protein level (rho = 0.234; p = 0.048) and gene expression (rho = 0.333; p = 0.041) and with PANSS negative (rho = 0.531), general (rho = 0.643), and total (rho = 0.541) scores. Additionally, Zn negatively correlated with serum Mg (rho = - 0.426, p < 0.01) and positively with serum Se (rho = 0.343, p < 0.05). In conclusion, elevated Cu levels could potentially contribute to the development of SZ. Elevated Cu levels in cases and their correlation with the TNF-α gene and protein and PANSS score indicate Cu's potential role in exacerbating SZ severity through inflammatory cytokines. This suggests the involvement of metals and cytokines in the pathophysiology of SZ.

7.
Article in English | MEDLINE | ID: mdl-38975676

ABSTRACT

ABSTRACT: BCR∷ABL1 translocation and JAK2V617F mutations are canonical variants of myeloproliferative neoplasms (MPNs). Traditionally considered mutually exclusive, they may rarely coexist. We report the clinicopathological profile and treatment outcomes of four MPN patients with coexistence of these disease-defining genetic variants. Both mutations were detected simultaneously in three patients who did not harbor tell-tale signs of CML and were evaluated for both BCR∷ABL1 and JAK2V617F based on clues from hemogram, peripheral-blood and bone-marrow examination. All were treated with imatinib and hydroxyurea and attained major molecular response after 2-7 months. In another patient, JAK2V617F was detected 15 years after the diagnosis of CML at the time of evaluation of loss of hematological and molecular response. She was treated with dasatinib but no hematologic or molecular response was attained after 6 months despite good compliance. In conclusion, BCR∷ABL1 and JAK2V617F may rarely coexist in MPN with variable temporal evolution, clinicopathological profile, and treatment response.

8.
Metabol Open ; 23: 100298, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39045138

ABSTRACT

Background: 25-hydroxy vitamin-D (25(OH)D) deficiency is prevalent worldwide including India. Earlier some cross-sectional studies have discussed 25(OH)D deficiency and its prevalence. The correlation of 25(OH)D with seasonal variation has been reported rarely in India. To determine the 25(OH)D levels and seasonal changes of 25(OH)D status at a tertiary care hospital in North-western India. Materials and methods: 25(OH)D assessments performed in laboratories between 2018 and 2020 was acquired using hospital records. A total of 11,428 assays of serum 25(OH)D were analyzed in the study. Subjects were divided into three groups based on the International Endocrine Society's recommendation for serum 25(OH)D level. The 25(OH)D deficiency <20 ng/ml, insufficiency 20-29 ng/mL and sufficiency ≥30 ng/mL was defined. The months have been separated into the following seasons to analyze seasonal trends: Summer/monsoon (April-September), and winter/spring (October-March). Results: The median 25(OH)D was 17.2 ng/mL. We observed the prevalence of 60 %, 24.1 % & 15.9 % of 25(OH)D deficiency, 25(OH)D insufficiency, and sufficiency respectively in the total number of individuals tested. 56 % male and 63 % females were 25(OH)D deficient. Notably, the lowest median 25(OH)D value was found in the 21-30 age group (14.8 ng/mL). A significant difference in 25(OH)D levels between the summer (18.7 ng/mL) and winter (15.8 ng/mL) seasons has been noticed. Discussion: Current study revealing that 25(OH)D deficiency is common in all age groups and genders, according to our findings. Surprisingly, the lowest levels were reported in young adults. Seasonal variation has an impact on 25(OH)D status, however in all seasons 25(OH)D levels are lower than reference intervals. These findings suggest that the criteria for determining the state of 25(OH)D insufficiency and deficiency in the Indian population should be reconsidered.

10.
Indian J Clin Biochem ; 39(3): 429-437, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39005867

ABSTRACT

Neuropsychiatric disorders are mainly concerned with the behavioural, emotional and cognition symptoms that may be due to disturbed cerebral functions or extracerebral disease. Klotho protein is an antiaging protein that is mostly associated with cognitive changes in these disorders and thus this meta-analysis is conducted in order to find Klotho proteins association with these disorders. We searched related topics in pubmed, by using the key word i.e. Klotho and related disorder from neuropsychiatry e.g. Klotho levels and schizophrenia, Klotho levels and parkinsonism etc. Total 82 studies were found till 9th February 2021 after extensive search and 10 studies were selected for further analysis. The meta-analysis of studies was performed using the Random effect model. The forest plot represented each study in the meta-analysis, so as to make the comparison of SMD value across studies. The meta-analysis outcome demonstrated that overall schizophrenia had higher klotho levels as compared with bipolar disorder, psychosocial stress, parkinsonism, multiple sclerosis, depression, Alzheimer's disease, and healthy controls, followed by MS. The meta-analysis also found that bipolar disorder and Alzheimer's disease were associated with low klotho levels as compared to schizophrenia. The results indicate a significant association of the klotho levels and schizophrenia. Further studies are needed to characterize the potential biological roles of klotho levels in psychiatric disorders.

11.
Radiol Case Rep ; 19(9): 3732-3739, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38983278

ABSTRACT

Ovarian lymphangiomas are rare benign neoplasms characterized by the proliferation of lymphatic vessels within the ovarian tissue. While lymphangiomas can manifest in various anatomical locations, their occurrence within the ovaries is exceptionally uncommon, posing diagnostic and therapeutic challenges for clinicians. The aetiology of ovarian lymphangiomas remains elusive, with theories suggesting congenital malformations, lymphatic obstruction, or acquired lymphatic proliferation as potential contributing factors. The clinical presentation of ovarian lymphangiomas often includes nonspecific symptoms such as abdominal pain, swelling, or discomfort, leading to difficulties in early detection and diagnosis. Radiological imaging, particularly Ultrasound, CT (computed tomography) and MRI (magnetic resonance imaging), plays a crucial role in identifying these lesions and guiding subsequent management strategies. Despite their generally benign nature, ovarian lymphangiomas can attain significant sizes, causing complications such as torsion, rupture, or compression of adjacent structures. Surgical intervention, typically in cystectomy or oophorectomy, is frequently pursued to alleviate symptoms and prevent potential complications. This paper aims to comprehensively review the existing literature on ovarian lymphangiomas, addressing their clinical presentation, diagnostic challenges, and management strategies. By synthesizing available data, we seek to enhance our understanding of this rare entity, providing valuable insights for clinicians encountering similar cases. Improved awareness and knowledge of ovarian lymphangiomas are essential for timely diagnosis and optimal patient outcomes.

12.
Cureus ; 16(6): e62111, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38993436

ABSTRACT

BACKGROUND: Endometrial cancer (EC) is the most common gynecological malignancy. Accurate preoperative staging is essential for guiding treatment. The depth of myometrial invasion is a key prognostic factor. This prospective study aimed to evaluate the added benefit of diffusion-weighted imaging (DWI) compared to T2-weighted imaging (T2WI) and dynamic contrast-enhanced MRI (DCE-MRI) for the preoperative assessment of myometrial invasion in EC. AIM AND OBJECTIVES: The aim of this prospective study was to evaluate the added benefit of DWI in the preoperative assessment of myometrial invasion in EC, in comparison with T2WI and DCE-MRI. The objectives were to assess the imaging characteristics of endometrial carcinoma on T2WI, DCE, and DW MR, to assess the depth of myometrial invasion and overall stage in EC patients, to compare the diagnostic performance of DCE-MRI with that of DW-MRI combined with T2WI, to describe how MR imaging findings can be combined with tumor histologic features and grading to guide treatment planning, and to evaluate the pitfalls and limitations of DCE and DW MR in the assessment of EC. MATERIALS AND METHODS: Thirty-one patients with histologically confirmed EC underwent preoperative pelvic MRI on a 1.5T scanner. T2WI, DWI (b-values 0, 1000 s/mm2), and DCE-MRI were performed. Two radiologists independently assessed myometrial invasion on T2WI, T2WI + DWI, and T2WI + DCE-MRI. Histopathology after hysterectomy was the reference standard. Diagnostic accuracy, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for each MRI protocol, with separate analyses for superficial (<50%) and deep (≥50%) myometrial invasions. RESULTS: The accuracy for assessing superficial invasion was 61.3% for T2WI, 87.1% for T2WI + DWI, and 87.1% for T2WI + DCE-MRI. For deep invasion, accuracy was 64.5% for T2WI, 90.3% for T2WI + DWI, and 90.3% for T2WI + DCE-MRI. Sensitivity, specificity, PPV, and NPV for T2WI + DWI and T2WI + DCE-MRI were high and comparable (88.9-91.7%) for both superficial and deep invasions. T2WI had markedly lower sensitivity and specificity. The differences between T2WI and the functional MRI protocols were statistically significant (p < 0.01). CONCLUSION: DWI and DCE-MRI significantly improve the diagnostic performance of MRI for the preoperative assessment of myometrial invasion depth in EC compared to T2WI alone. DWI + T2WI and DCE-MRI + T2WI demonstrate comparable high accuracy. DWI may be preferable since it is faster and avoids contrast administration.

13.
Mol Biol Rep ; 51(1): 877, 2024 Jul 31.
Article in English | MEDLINE | ID: mdl-39083093

ABSTRACT

BACKGROUND: Ten-eleven translocases (TETs) are enzymes responsible for demethylation processes, playing a crucial role in maintaining the body's methylation balance. Dysregulation of TET expression can lead to abnormal methylation levels. Isocitrate dehydrogenases (IDH) are upstream genes involved in Kreb cycle responsible for production of α-ketoglutarate (α-KG). α-KG and vitamin C are cofactors of TET3 enzyme. There is limited data on the relationship between TET3 and its cofactor Vitamin C in head and neck carcinoma (H&NC). METHODS AND RESULTS: In this study, we have investigated the expression of the TET3 gene along with IDH1/2 genes involved in the Krebs cycle in the peripheral blood of 32 H&NC patients compared to 32 healthy controls. We estimated serum levels of TET3 protein and vitamin C and 5-hydroxymethylcytosine (5-hmC) percentage in DNA isolated from EDTA blood samples. Our findings revealed that TET3 and IDH1/2 were downregulated in H&NC patients compared to healthy controls. Serum levels of TET3 and Vitamin C were low in H&NC patients compared to healthy controls. Diminished levels of percentage 5-hmC were detected in EDTA blood samples of H&NC patients compared to controls. Spearman correlation analysis revealed a significant positive correlation between TET3 levels, vitamin C levels and 5-hmC percentage. CONCLUSION: The low levels of Vitamin C are believed to contribute to decreased activity of the TET3 gene and less conversion of 5-methylcytosine (5-mC) to 5-hmC. Dietary supplementation of Vitamin C may increase TET3 activity.


Subject(s)
5-Methylcytosine , Ascorbic Acid , DNA Methylation , Dioxygenases , Epigenesis, Genetic , Head and Neck Neoplasms , Isocitrate Dehydrogenase , Humans , 5-Methylcytosine/analogs & derivatives , 5-Methylcytosine/metabolism , Dioxygenases/genetics , Dioxygenases/metabolism , Male , Epigenesis, Genetic/genetics , Female , Isocitrate Dehydrogenase/genetics , Isocitrate Dehydrogenase/metabolism , Middle Aged , Head and Neck Neoplasms/genetics , Head and Neck Neoplasms/blood , DNA Methylation/genetics , Ascorbic Acid/metabolism , Ascorbic Acid/blood , Adult , Proto-Oncogene Proteins/genetics , Proto-Oncogene Proteins/metabolism , Gene Expression Regulation, Neoplastic , Down-Regulation/genetics , Aged , Case-Control Studies
14.
J Biotechnol ; 393: 17-30, 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39025368

ABSTRACT

Ricinoleic acid (RA) from castor oil was employed in biotransformation of peach-flavoured γ-decalactone (GDL), using a Candida parapsilosis strain (MTCC13027) which was isolated from waste of pineapple crown base. Using four variables-pH, cell density, amount of RA, and temperature-the biotransformation parameters were optimized using RSM and BBD. Under optimized conditions (pH 6, 10 % of microbial cells, 10 g/L RA at 28°C), the conversion was maximum and resulted to 80 % (+)-GDL (4.4 g/L/120 h) yield in shake flask (500 mL). Furthermore, optimization was achieved by adjusting the aeration and agitation parameters in a 3 L bioreactor, which were then replicated in a 10 L bioreactor to accurately determine the amount of (+)-GDL. In bioreactor condition, 4.7 g/L (>85 %) of (+)-GDL is produced with 20 % and 40 % dissolved oxygen (1.0 vvm) at 150 rpm in 72 h and 66 h, respectively. Further, a new Al-Mg-Ca-Si composite column-chromatography method is developed to purify enantiospecific (+)-GDL (99.9 %). This (+)-GDL is 100 % nature-identical as validated through 14C-radio-carbon dating. Thorough chemical investigation of enantiospecific (+)-GDL is authenticated for its use as flavour. This bioflavour has been developed through a cost-effective biotechnological process in response to the demand from the food industry on commercial scale.


Subject(s)
Bioreactors , Candida parapsilosis , Castor Oil , Lactones , Ricinoleic Acids , Ricinoleic Acids/metabolism , Ricinoleic Acids/chemistry , Bioreactors/microbiology , Castor Oil/chemistry , Castor Oil/metabolism , Candida parapsilosis/metabolism , Lactones/metabolism , Lactones/chemistry , Flavoring Agents/metabolism , Flavoring Agents/chemistry , Biotransformation
15.
Nutr Neurosci ; : 1-10, 2024 Jun 19.
Article in English | MEDLINE | ID: mdl-38896552

ABSTRACT

AIM: Vitamin D is involved in several processes related to the development of neuronal and non-neuronal cells. There is a possible link between maternal vitamin D status in pregnancy and delayed neurocognitive development in the offspring. The aim of the study was to explore the association of maternal and cord blood vitamin D levels with infants' neurodevelopment at 6 and 9 months of age. METHODOLOGY: A cohort study was conducted in western Rajasthan, India. Maternal and cord blood samples were collected at the time of delivery. Serum 25(OH)-vitamin D levels were measured in both. Infant neurodevelopment was assessed at 6 and 9 months of age in six domains namely cognitive, receptive language, expressive language, fine motor, gross motor and social-emotional using the Bayley Scale of Infant Development- III (BSID-III). RESULTS: A total of 175 mother-child pairs were enrolled. Among the mothers taking part in this study, 7.3% had deficient and 59.09% had insufficient levels of serum 25(OH) vitamin D during the third trimester of their pregnancy. Maternal and cord blood serum 25-OH vitamin D levels were 18.86 ± 8.53 ng/mL and 17.39 ± 8.87 ng/mL, respectively, and there was a significant correlation (r = 0.9778, p = 0.000) between levels of vitamin D. Based on the repeated measures ANOVA, post hoc Tukey's HSD test, maternal vitamin D levels had a significant relationship (p = 0.047) to the cognitive development of infants at 6 months of age. Furthermore, cord serum vitamin D levels showed a significant association (p = 0.023 and p = 0.010) with the social-emotional development of the infant at the age of 6 and 9 months. CONCLUSION: Maternal and cord serum 25-OH vitamin D deficiency was significantly associated with the cognitive and social-emotional development of infants.

16.
Cureus ; 16(5): e59552, 2024 May.
Article in English | MEDLINE | ID: mdl-38832171

ABSTRACT

Zinner syndrome (ZS) is a highly uncommon congenital or developmental urogenital anomaly characterized by the triumvirate of unilateral renal agenesis or dysplasia, ipsilateral ejaculatory duct obstruction, and ipsilateral seminal vesicle cyst. We present three cases of ZS in a 21-year-old male, a 20-year-old male, and a 24-year-old male. The diagnostic evaluation revealed unilateral renal agenesis associated with hypertrophy of the ipsilateral seminal vesicle with cystic changes on investigation by ultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI). The patients underwent surgical management, resulting in symptom resolution and enhanced quality of life. This case report highlights the diagnostic challenges, management options, and long-term outcomes for patients with ZS.

17.
Growth Factors ; 42(2): 84-100, 2024 05.
Article in English | MEDLINE | ID: mdl-38889447

ABSTRACT

N-acetylgalactosaminyltransferases (GALNTs) are a polypeptide responsible for aberrant glycosylation in breast cancer (BC), but the mechanism is unclear. In this study, expression levels of GALNT6, GALNT14, and Gal-3 were assessed in BC, and their association with GDF-15, ß-catenin, stemness (SOX2 and OCT4), and drug resistance marker (ABCC5) was evaluated. Gene expression of GALNT6, GALNT14, Gal-3, GDF-15, OCT4, SOX2, ABCC5, and ß-catenin in tumor and adjacent non-tumor tissues (n = 30) was determined. The same was compared with GEO-microarray datasets. A significant increase in the expression of candidate genes was observed in BC tumor compared to adjacent non-tumor tissue; and in pre-therapeutic patients compared to post-therapeutic. GALNT6, GALNT14, Gal-3, and GDF-15 showed positive association with ß-catenin, SOX2, OCT4, and ABCC5 and were significantly associated with poor Overall Survival. Our findings were also validated via in silico analysis. Our study suggests that GALNT6, GALNT14, and Gal-3 in association with GDF-15 promote stemness and intrinsic drug resistance in BC, possibly by ß-catenin signaling pathway.


Subject(s)
Breast Neoplasms , Drug Resistance, Neoplasm , Growth Differentiation Factor 15 , N-Acetylgalactosaminyltransferases , Polypeptide N-acetylgalactosaminyltransferase , beta Catenin , Humans , N-Acetylgalactosaminyltransferases/genetics , N-Acetylgalactosaminyltransferases/metabolism , Breast Neoplasms/metabolism , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Breast Neoplasms/drug therapy , Female , beta Catenin/metabolism , beta Catenin/genetics , Growth Differentiation Factor 15/metabolism , Growth Differentiation Factor 15/genetics , Neoplastic Stem Cells/metabolism , Middle Aged , Gene Expression Regulation, Neoplastic , Cell Line, Tumor
18.
Mol Biol Rep ; 51(1): 691, 2024 May 25.
Article in English | MEDLINE | ID: mdl-38796671

ABSTRACT

BACKGROUND: Altered glycosylation plays a role in carcinogenesis. GALNT14 promotes cancer stem-like properties and drug resistance. GDF-15 is known to induces drug resistance and stemness markers for maintenance of breast cancer (BC) stem-like cell state. Currently there is lack of data on association of GDF-15 and GALNTs. In this study, the expression and interaction of GALNT14 and GDF-15 with stemness (OCT4 and SOX2) and drug resistance (ABCC5) markers were evaluated in BC. METHODS: We investigated tumour tissue from 30 BC patients and adjacent non-tumour tissues. Expression of serum GALNT14 from BC patients and matched healthy controls was evaluated. Expression of GALNT14, GDF-15, OCT4, SOX2, ABCC5, and ß-catenin in BC tissue was determined by RT-PCR. Knockdown of GALNT14 and GDF-15 in the MCF-7 cell line was done through siRNA, gene expression and protein expression of ß-catenin by western blot were determined. RESULTS: A significant increase in the expression of GALNT14, GDF-15, OCT4, SOX2, ABCC5, and ß-catenin was observed in BC tumour tissues compared to adjacent non-tumour tissues. The serum level of GALNT14 was significantly high in BC patients (80.7 ± 65.3 pg/ml) compared to healthy controls (12.2 ± 9.12 pg/ml) (p < 0.000). To further analyse the signalling pathway involved in BC stemness and drug resistance, GALNT14 and GDF-15 were knocked down in the MCF-7 cell line, and it was observed that after knockdown, the expression level of OCT4, SOX2, ABCC5, and ß-catenin was decreased, and co-knockdown with GALNT14 and GDF-15 further decreased the expression of genes. CONCLUSION: It can be concluded that GALNT14, in association with GDF-15, promotes stemness and intrinsic drug resistance in BC, possibly through the ß-catenin signalling pathway.


Subject(s)
Breast Neoplasms , Drug Resistance, Neoplasm , Growth Differentiation Factor 15 , N-Acetylgalactosaminyltransferases , Neoplastic Stem Cells , beta Catenin , Humans , Breast Neoplasms/genetics , Breast Neoplasms/metabolism , Female , N-Acetylgalactosaminyltransferases/genetics , N-Acetylgalactosaminyltransferases/metabolism , Drug Resistance, Neoplasm/genetics , beta Catenin/metabolism , beta Catenin/genetics , Growth Differentiation Factor 15/genetics , Growth Differentiation Factor 15/metabolism , MCF-7 Cells , Middle Aged , Neoplastic Stem Cells/metabolism , Gene Expression Regulation, Neoplastic , Adult , SOXB1 Transcription Factors/metabolism , SOXB1 Transcription Factors/genetics , Signal Transduction , Wnt Signaling Pathway/genetics , Octamer Transcription Factor-3/metabolism , Octamer Transcription Factor-3/genetics , Multidrug Resistance-Associated Proteins/genetics , Multidrug Resistance-Associated Proteins/metabolism , Cell Line, Tumor , Aged
19.
Environ Monit Assess ; 196(5): 491, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38691183

ABSTRACT

This study explores the dual applications of a greenly synthesized ZnO@CTAB nanocomposite for the efficient remediation of Rhodamine B (RhB) and lead (Pb). The synthesis method involves a sustainable approach, emphasizing environmentally friendly practices. FT-IR, XRD, FESEM, zeta potential, and particle size analyzer (PSA), BET, and UV-VIS were used to physically characterize the zinc oxide and CTAB nanocomposite (ZnO@CTAB). The size and crystalline index of ZnO@CTAB are 77.941 nm and 63.56% respectively. The Zeta potential of ZnO@CTAB is about - 22.4 mV. The pore diameter of the ZnO@CTAB was 3.216 nm, and its total surface area was 97.42 m2/g. The mechanism of adsorption was investigated through pHZPC measurements. The nanocomposite's adsorption performance was systematically investigated through batch adsorption experiments. At pH 2, adsorbent dose of 0.025 g, and temperature 50 °C, ZnO@CTAB removed the most RhB, while at pH 6, adsorbent dose of 0.11 g, and temperature 60 °C, ZnO@CTAB removed the most Pb. With an adsorption efficiency of 214.59 mg/g and 128.86 mg/g for RhB and Pb, the Langmuir isotherm model outperforms the Freundlich isotherm model in terms of adsorption. The pseudo-2nd-order model with an R2 of 0.99 for both RhB and Pb offers a more convincing explanation of adsorption than the pseudo-1st-order model. The results demonstrated rapid adsorption kinetics and high adsorption capacities for RhB and Pb. Furthermore, there was minimal deterioration and a high reusability of ZnO@CTAB till 4 cycles were observed.


Subject(s)
Lead , Nanocomposites , Rhodamines , Water Pollutants, Chemical , Zinc Oxide , Lead/chemistry , Zinc Oxide/chemistry , Rhodamines/chemistry , Nanocomposites/chemistry , Water Pollutants, Chemical/chemistry , Adsorption , Cetrimonium/chemistry , Environmental Restoration and Remediation/methods , Green Chemistry Technology , Nanostructures/chemistry
20.
Cureus ; 16(4): e58092, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38738008

ABSTRACT

Wilson's disease (WD), alternatively termed hepatolenticular degeneration, represents a rare autosomal recessive disorder typified by disrupted copper metabolism, culminating in copper accumulation across various organs. WD commonly manifests with early-onset liver cirrhosis, with notable involvement of the central nervous system, particularly impacting the midbrain and basal ganglia. This case report delineates the clinical presentation of an early adolescent female with WD, accentuating classical magnetic resonance imaging (MRI) findings. These MRI findings, which include the "face of a giant panda sign" and the "Face of a miniature panda sign," are pivotal for expeditious diagnosis. Recognition of these classical signs underscores the indispensable role of MRI in elucidating the neurological dimensions of WD.

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