-
World Journal of Clinical Cases Jun 2024As research on diabetes continues to advance, more complex classifications of this disease have emerged, revealing the existence of special types of diabetes, and many...
BACKGROUND
As research on diabetes continues to advance, more complex classifications of this disease have emerged, revealing the existence of special types of diabetes, and many of these patients are prone to misdiagnosis and underdiagnosis, leading to treatment delays and increased health care costs. The purpose of this study was to identify four causes of secondary diabetes.
CASE SUMMARY
Secondary diabetes can be caused by various factors, some of which are often overlooked. These factors include genetic defects, autoimmune disorders, and diabetes induced by tumours. This paper describes four types of secondary diabetes caused by Williams-Beuren syndrome, Prader-Willi syndrome, pituitary adenoma, and IgG4-related diseases. These cases deviate significantly from the typical progression of the disease due to their low incidence and rarity, often leading to their neglect in clinical practice. In comparison to regular diabetes patients, the four individuals described here exhibited distinct characteristics. Standard hypoglycaemic treatments failed to effectively control the disease. Subsequently, a series of examinations and follow-up history confirmed the diagnosis and underlying cause of diabetes. Upon addressing the primary condition, such as excising a pituitary adenoma, providing glucocorticoid supplementation, and implementing symptomatic treatments, all patients experienced a considerable decrease in blood glucose levels, which were subsequently maintained within a stable range. Furthermore, other accompanying symptoms improved.
CONCLUSION
Rare diseases causing secondary diabetes are often not considered in the diagnosis of diabetes. Therefore, it is crucial to conduct genetic tests, antibody detection and other appropriate diagnostic measures when necessary to facilitate early diagnosis and intervention through proactive and efficient management of the underlying condition, ultimately improving patient outcomes.
PubMed: 38899290
DOI: 10.12998/wjcc.v12.i16.2813 -
Frontiers in Endocrinology 2024Post-operative CSF leak is the major source of morbidity following transsphenoidal approaches (TSA) and expanded endonasal approaches (EEA) to lesions of the sella...
AIMS
Post-operative CSF leak is the major source of morbidity following transsphenoidal approaches (TSA) and expanded endonasal approaches (EEA) to lesions of the sella turcica and the ventral skull base. There are conflicting reports in the literature as to whether obesity (BMI ≥30) is a risk factor for this complication. We aimed to evaluate data collected as part of prospective multi-centre cohort study to address this question.
METHODS
The CRANIAL (CSF Rhinorrhoea After Endonasal Intervention to the Skull Base) study database was reviewed and patients were divided into obese and non-obese cohorts. Data on patient demographics, underlying pathology, intra-operative findings and skull base repair techniques were analysed.
RESULTS
TSA were performed on 726 patients, of whom 210 were obese and 516 were non-obese. The rate of post-operative CSF leak in the obese cohort was 11/210 (5%), compared to 17/516 (3%) in the non-obese cohort, which was not statistically significant (χ 1.520, p=0.217). EEA were performed on 140 patients, of whom 28 were obese and 112 were non-obese. The rate of post-operative CSF leak in the obese cohort was 2/28 (7%), which was identical to the rate observed in the non-obese cohort 8/112 (7%) Fisher's Exact Test, p=1.000). These results persisted following adjustment for inter-institutional variation and baseline risk of post-operative CSF leak.
CONCLUSION
CSF leak rates following TSA and EEA, in association with modern skull base repair techniques, were found to be low in both obese and non-obese patients. However, due to the low rate of post-operative CSF leak, we were unable to fully exclude a small contributory effect of obesity to the risk of this complication.
Topics: Humans; Obesity; Female; Male; Skull Base; Cerebrospinal Fluid Leak; Middle Aged; Prospective Studies; Postoperative Complications; Adult; Aged; Endoscopy; Cerebrospinal Fluid Rhinorrhea; Risk Factors; Cohort Studies; Young Adult
PubMed: 38899009
DOI: 10.3389/fendo.2024.1353494 -
World Journal of Clinical Cases Jun 2024Salivary gland tumors are relatively rare. Most minor salivary gland tumors are malignant with benign tumors accounting for 18% of the tumors. Pleomorphic adenoma (PA)...
BACKGROUND
Salivary gland tumors are relatively rare. Most minor salivary gland tumors are malignant with benign tumors accounting for 18% of the tumors. Pleomorphic adenoma (PA) is the most common salivary gland tumor. Lip PA is uncommon with 9.8% occurring in the upper lip. We are adding on the knowledge of the rare upper lip PA (benign mixed tumor).
CASE SUMMARY
We report an upper lip PA (benign mixed tumor) in a 28-year-old man. His complaint was a painless swelling on the upper lip. A painless, non-tender, well-circumscribed, slightly mobile, sessile, nodular, and rubbery (in consistency) tumor measuring 5.0 cm x 2.0 cm was noted on the left side of his upper lip. The overlying skin was not fixed and of normal color. There was no ulceration, and palpation did not elicit pain or bleeding. There was no history of trauma. Blunt dissection was used to completely excise the nodular, whitish, and encapsulated tumor. Microscopy showed a well-circumscribed and partly encapsulated biphasic lesion, with large lobules of myxo-chondroid stroma and intervening cellular nodules of basaloid cells, well-formed tubules containing eosinic secretion, and nests of myoepithelial cells. A diagnosis of PA (benign mixed tumor) was confirmed.
CONCLUSION
Blunt dissection is indicated to preserve the cosmesis and function of the upper lip.
PubMed: 38898865
DOI: 10.12998/wjcc.v12.i17.3138 -
Ear, Nose, & Throat Journal Jun 2024To analyze the etiology, diagnosis, and treatment of unexplained conductive hearing loss (UCHL) with intact tympanic membrane. A systematic review was conducted based... (Review)
Review
To analyze the etiology, diagnosis, and treatment of unexplained conductive hearing loss (UCHL) with intact tympanic membrane. A systematic review was conducted based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 642 articles were retrieved from databases such as PubMed, Embase, Web of Science, and Cochrane. Fifty-four research articles and 21 case reports were screened out according to the inclusion and exclusion criteria for analysis of the etiology of UCHL. Seven research articles with UCHL who underwent exploratory tympanotomy were selected for data extraction and analysis of clinical characteristics. UCHL is a common manifestation of various diseases, including congenital ossicular anomalies (COA), otosclerosis (OTS), congenital middle ear cholesteatoma (CMEC), oval window atresia, superior semicircular-canal dehiscence, congenital stapedial footplate fixation, middle ear osteoma or adenoma, congenital ossification of stapedial tendon, and so on. A total of 522 patients were included in the 7 articles; among whom OTS showed a tendency to increase with age. The main symptoms were hearing loss, followed by tinnitus, dizziness, ear fullness, ear pain, facial paralysis. A total of 87.5% to 93.0% patients with COA manifested as nonprogressive deafness that occurred since childhood, with tinnitus incidence of 15.6% to 30.2%, and 86.4% to 96.4% patients with OTS presented with progressive hearing loss, with tinnitus incidence of 60.1% to 90.9%. The diagnosis positive rate of high-resolution computed tomography (HRCT) was 33.8% to 87.1%, and CMEC was higher than that of COA (83.3%-100% vs 28.6%-64%). All the articles reported good hearing recovery. The most common surgical complications included taste abnormalities, tinnitus, and dizziness. UCHL presents with similar clinical manifestations and poses challenges in preoperative diagnosis. Exploratory tympanotomy is the primary method for diagnosis and treatment, with good prognosis after removing the lesion and reconstructing hearing during the operation. Children can also safely undergo the surgery.
PubMed: 38895947
DOI: 10.1177/01455613241262129 -
Journal of Clinical Medicine May 2024: Endoscopic papillectomy (EP) is the preferred treatment for ampullary tumors because it has fewer side effects than surgical removal. This study retrospectively...
: Endoscopic papillectomy (EP) is the preferred treatment for ampullary tumors because it has fewer side effects than surgical removal. This study retrospectively compared a new anchoring EP method (A-EP) with the conventional (C-EP) approach. : Ninety-nine patients who underwent EP at a single medical institution between 2009 and 2021 were retrospectively reviewed. In all patients, the indications for EP were pathological adenoma with <10 mm of biliary invasion and a tumor diameter <30 mm on endoscopic ultrasonography. The exclusion criteria were antiplatelet/anticoagulant use, previous upper GI surgery, or prior biliary/pancreatic endoscopic therapy. One expert endoscopist performed the two types of EPs, A-EP and C-EP. : Sixty-two patients underwent A-EP, and 37 underwent C-EP. There were no significant differences in baseline characteristics, such as sex, age, tumor size, and ductal invasion on endoscopic ultrasound. The A-EP group had higher en bloc resection rates (95.2% vs. 78.4%, = 0.010). Although the difference was not statistically significant, it tended towards fewer incidences of pancreatitis ( = 0.081) and duct stricture ( = 0.081). The recurrence rate was lower in the A-EP group (8.1% vs. 37.8%, = 0.000). There were no significant differences between the two groups regarding the follow-up period (A-EP vs. C-EP, 725 vs. 1045 days, = 0.109) or the days of recurrence (A-EP vs. C-EP, 341 vs. 562 days, = 0.551). : A-EP showed better outcomes than C-EP in terms of en bloc resection and recurrence rates, providing evidence for the efficacy of this novel EP method.
PubMed: 38892937
DOI: 10.3390/jcm13113226 -
Journal of Clinical Medicine May 2024The one-person technique (OPT) for colonoscope insertion is recommended by professional societies and regarded as standard practice. However, the two-person technique...
The one-person technique (OPT) for colonoscope insertion is recommended by professional societies and regarded as standard practice. However, the two-person technique (TPT) has shown several advantages over the OPT. The aim of this study was to evaluate the performance of the TPT compared to the OPT. In this prospective study, consecutive individuals presenting for outpatient colonoscopy were randomized to undergo colonoscopy by OPT or by TPT. The colonoscopies were performed by six endoscopists, two of whom were beginners, two with intermediate skills, and two who were experts. The primary endpoints were quality indicators for colonoscopy, including adenoma detection rate, cecal intubation rate, cecal insertion time, and total colonoscopy time. A secondary outcome was procedure tolerability, as assessed by both the patients and the endoscopists. Two hundred and four subjects (117 males, mean age 54.3) were randomized to either one- ( = 102) or two-person ( = 102) colonoscopy. The adenoma detection rate was 30.4% in OPT group and 34.3% in TPT group. ( = 0.55). No significant differences between the two groups were found in terms of cecal intubation rate (98/102 vs. 98/102), insertion time (411 vs. 381 s), and total examination time (1426 vs. 1296 s). However, patients receiving the TPT had lower pain scores than patients receiving the OPT. Endoscopist fatigue measured with the FACIT-F was also significantly lower in the TPT group. The two-person colonoscopy method was not shown to be technically or clinically inferior. Rather, the TPT can improve patient tolerance and reduce endoscopist fatigue.
PubMed: 38892851
DOI: 10.3390/jcm13113140 -
Animals : An Open Access Journal From... Jun 2024Primary hyperthyroidism is a rarely diagnosed endocrinopathy in equids and there have been no previous reports of structural and functional cardiac changes associated...
Primary hyperthyroidism is a rarely diagnosed endocrinopathy in equids and there have been no previous reports of structural and functional cardiac changes associated with hyperthyroidism in these species. This case report investigates a 20-year-old mule gelding that presented for a three-month history of thin body condition despite polyphagia, with a heart murmur and elevated free and total thyroid hormone concentrations. On presentation, physical exam revealed a body condition score of two out of nine, persistent tachycardia, pansystolic heart murmur and firm bilateral ventral proximal cervical masses. Bloodwork confirmed markedly elevated free T4, total T4 and T3 concentrations. Echocardiogram demonstrated left ventricular concentric hypertrophy with increased ventricular and atrial systolic function. Bilateral thyroidectomy was performed under standing sedation without complications. Histopathology demonstrated adenocarcinoma of the left thyroid gland and multiple adenomas with osseous metaplasia within the right thyroid. The mule was supplemented with levothyroxine sodium two weeks post-op after a thyroid panel demonstrated undetectable concentrations. Polyphagia resolved following surgery and the mule began gaining weight. Echocardiographic changes improved but did not resolve at two years post-operative. Continued bi-annual follow up and monitoring of thyroid levels was recommended. This case represents the first documentation of hemodynamically relevant cardiac remodeling in an equid associated with primary hyperthyroidism.
PubMed: 38891707
DOI: 10.3390/ani14111660 -
Cells May 2024The dysregulation of gene expression is one of the key molecular features of colorectal cancer (CRC) development. This study aimed to investigate whether such...
BACKGROUND
The dysregulation of gene expression is one of the key molecular features of colorectal cancer (CRC) development. This study aimed to investigate whether such dysregulation is reflected in rectal swab specimens of CRC patients and to evaluate its potential as a non-invasive approach for screening.
METHODS
We compared the expression level of 14 CRC-associated genes in tumor and adjacent non-tumor tissue of CRC patients and examined the correlation of their levels in tissue with paired rectal swab specimens. The level of these 14 genes in rectal swab specimens was compared among patients with CRC or polyp and control subjects, and the diagnostic potential of each dysregulated gene and the gene panel were evaluated.
RESULTS
The expression of , , , , , , , , , and was significantly higher in CRC, and there was a significant correlation in the levels of most of them between the CRC and rectal swab specimens. In the training study, we showed that , , and levels were significantly higher in the rectal swab specimens of the CRC patients. Such result was confirmed in the validation study. A panel of these four genes was developed, and ROC analysis showed that this four-gene panel could identify CRC patients with an AUC value of 0.83 and identify overall polyp and precancerous adenoma patients with AUC values of 0.6522 and 0.7322, respectively. Finally, the predictive study showed that the four-gene panel demonstrated sensitivities of 63.6%, 76.9% and 88.9% in identifying overall polyp, precancerous adenoma and CRC patients, respectively, whereas the specificity for normal subjects was 72.2%.
CONCLUSION
The expression of CRC-associated genes in rectal swab specimens reflects the dysregulation status in colorectal tissue, and the four-gene panel is a potential non-invasive biomarker for early precancerous adenoma and CRC screening.
Topics: Humans; Early Detection of Cancer; Biomarkers, Tumor; Male; Colorectal Neoplasms; Female; Middle Aged; Rectum; Aged; Gene Expression Regulation, Neoplastic
PubMed: 38891062
DOI: 10.3390/cells13110930 -
Acta Neurochirurgica Jun 2024Invasion of the CS is one of the limiting factors for total resection for PitNet tumors with cure rates less than 30%. Extended approaches may be considered in selective...
BACKGROUND
Invasion of the CS is one of the limiting factors for total resection for PitNet tumors with cure rates less than 30%. Extended approaches may be considered in selective and well-studied cases of secreting adenomas.
METHOD
We describe the key steps of the endoscopic transcavernous approach for functional pituitary adenomas with a video illustration. The surgical anatomy is described along with the advantages and limitations of this approach.
CONCLUSION
A detailed knowledge of CS anatomy and familiarity with this surgical approach acquired in the laboratory is essential. Proper instrumentation is critical to decrease the risks of vascular injury.
Topics: Humans; Pituitary Neoplasms; Adenoma; Neuroendoscopy; Cavernous Sinus; Endoscopy; Neurosurgical Procedures
PubMed: 38890156
DOI: 10.1007/s00701-024-06168-x -
Clinical and Translational Medicine Jun 2024Sporadic parathyroid adenoma (PA) is the most common cause of hyperparathyroidism, yet the mechanisms involved in its pathogenesis remain incompletely understood.
BACKGROUND
Sporadic parathyroid adenoma (PA) is the most common cause of hyperparathyroidism, yet the mechanisms involved in its pathogenesis remain incompletely understood.
METHODS
Surgically removed PA samples, along with normal parathyroid gland (PG) tissues that were incidentally dissected during total thyroidectomy, were analysed using single-cell RNA-sequencing with the 10× Genomics Chromium Droplet platform and Cell Ranger software. Gene set variation analysis was conducted to characterise hallmark pathway gene signatures, and single-cell regulatory network inference and clustering were utilised to analyse transcription factor regulons. Immunohistochemistry and immunofluorescence were performed to validate cellular components of PA tissues. siRNA knockdown and gene overexpression, alongside quantitative polymerase chain reaction, Western blotting and cell proliferation assays, were conducted for functional investigations.
RESULTS
There was a pervasive increase in gene transcription in PA cells (PACs) compared with PG cells. This is associated with high expression of histone-lysine N-methyltransferase 2A (KMT2A). High KMT2A levels potentially contribute to promoting PAC proliferation through upregulation of the proto-oncogene CCND2, which is mediated by the transcription factors signal transducer and activator of transcription 3 (STAT3) and GATA binding protein 3 (GATA3). PA tissues are heavily infiltrated with myeloid cells, while fibroblasts, endothelial cells and macrophages in PA tissues are commonly enriched with proinflammatory gene signatures relative to their counterparts in PG tissues.
CONCLUSIONS
We revealed the previously underappreciated involvement of the KMT2A‒STAT3/GATA3‒CCND2 axis and chronic inflammation in the pathogenesis of PA. These findings underscore the therapeutic promise of KMT2A inhibition and anti-inflammatory strategies, highlighting the need for future investigations to translate these molecular insights into practical applications.
HIGHLIGHTS
Single-cell RNA-sequencing reveals a transcriptome catalogue comparing sporadic parathyroid adenomas (PAs) with normal parathyroid glands. PA cells show a pervasive increase in gene expression linked to KMT2A upregulation. KMT2A-mediated STAT3 and GATA3 upregulation is key to promoting PA cell proliferation via cyclin D2. PAs exhibit a proinflammatory microenvironment, suggesting a potential role of chronic inflammation in PA pathogenesis.
Topics: Humans; Parathyroid Neoplasms; Adenoma; Inflammation; Histone-Lysine N-Methyltransferase; Myeloid-Lymphoid Leukemia Protein; Proto-Oncogene Mas; Cell Proliferation
PubMed: 38888967
DOI: 10.1002/ctm2.1734