Cureus最新文献

ELOVL6 is a key microsomal enzyme that catalyzes the elongation of C16 saturated and monounsaturated fatty acids into C18 species and plays a pivotal role in lipid homeostasis. Although ELOVL6 is recognized as a downstream target of sterol regulatory element-binding proteins (SREBPs), the promoter architecture and the functional contribution of individual sterol regulatory elements (SREs) within the human ELOVL6 gene remain poorly characterized. In this study, we investigated the transcriptional regulation of human ELOVL6 in response to free fatty acids, focusing on SREBP-mediated mechanisms. A 1.6 kb genomic region encompassing the human ELOVL6 promoter and first intron was cloned, and two putative SREs, designated SRE1 and SRE2, were identified. Using human hepatoma Huh7 cells, we found that palmitic acid (PA), but not oleic acid (OA), induced a transient upregulation of ELOVL6 mRNA expression at 24 h, which diminished by 48 h. Electrophoretic mobility shift assays and chromatin immunoprecipitation analyses demonstrated specific binding of SREBP to both SRE1 and SRE2, with enhanced recruitment following PA stimulation. Luciferase reporter assays revealed that site-directed mutagenesis of either SRE significantly reduced basal promoter activity, while simultaneous disruption of both elements resulted in profound suppression, indicating that both elements are essential for fatty acid-responsive transcription. Consistent with these findings, PA stimulation caused a rapid but transient accumulation of nuclear SREBP, peaking at 4 h and declining thereafter, suggesting that the short nuclear half-life of active SREBP contributes to the transient induction of ELOVL6. Collectively, these results delineate the cis-regulatory framework of the human ELOVL6 gene and demonstrate that SRE1 and SRE2 cooperatively mediate SREBP-dependent, fatty acid-responsive transcription. This tightly regulated and transient activation of ELOVL6 may represent an adaptive mechanism to acute lipid-derived stress, the dysregulation of which could contribute to metabolic disorders and cancer-associated lipid remodeling.

Hyperammonemia outside the neonatal period is a time-critical emergency and may reveal a late-onset urea cycle disorder, including ornithine transcarbamylase deficiency (OTCD), which can be particularly challenging to recognize in females. We report the case of an 11-month-old female who presented with seizures and transient focal neurological deficits in the context of recurrent vomiting and acute hepatic dysfunction, with respiratory alkalosis and marked hyperammonemia accompanied by biochemical features compatible with a proximal urea cycle defect. Brain imaging showed stroke-like changes that were not consistent with a vascular territory, supporting a metabolic mechanism rather than primary ischemia. In a resource-limited setting where standard nitrogen-scavenging therapy and extracorporeal ammonia removal were not accessible, prompt catabolic control using strict protein restriction and high-calorie hydration was associated with biochemical recovery and clinical improvement, although mild residual weakness remained. This report highlights that early suspicion and immediate supportive management can be lifesaving when advanced diagnostics and targeted therapies are unavailable.

Indwelling urinary catheter (IDC) insertion is routine in obstetric practice and is considered low risk. Inadvertent ureteric catheterisation is rare and has been reported only in a few patients with complex backgrounds, mainly neurogenic bladder. This report describes a case of iatrogenic ureteric injury secondary to IDC insertion in an otherwise well woman, who was later found to have an undiagnosed duplex renal collecting system. Interestingly, an antenatal ultrasound in this case detected a fetal duplex renal collecting system. The case describes a woman in her thirties in spontaneous labour who had an IDC inserted due to concurrent epidural analgesia. She was noted to have minimal urine output after IDC insertion. She required an emergency caesarean section for a prolonged second stage and fetal tachycardia, and the bladder was noted to be oedematous and high during entry. Further imaging with computerized tomography following the caesarean section demonstrated the duplex collecting system with evidence of ureteric rupture of the lower pole moiety. The IDC was seen to be malpositioned, passing into the left ureter. The patient then required emergency cystoscopy with stent insertion. This case highlights a rare but serious complication related to routine IDC insertion. Consideration of maternal imaging when fetal renal anomalies are detected may be useful in diagnosing maternal duplex systems; however, current evidence does not support this practice.

Distal ureteral calculi measuring ≤5 mm are generally expected to pass spontaneously and are commonly managed conservatively. However, persistent obstruction may occur and can result in renal impairment. A 31-year-old previously healthy male presented with lower abdominal discomfort, dysuria, and penile pain. Initial noncontrast computed tomography (CT) revealed a 4 mm calculus at the left ureterovesical junction without hydronephrosis. He was discharged with conservative management, including nonsteroidal anti-inflammatory drugs (NSAIDs), oral cefixime 400 mg daily, hydration advice, and follow-up instructions. Ten days later, he re-presented with severe flank pain and reduced urine output. Laboratory evaluation demonstrated elevated serum creatinine consistent with acute kidney injury (AKI). Repeat CT showed the persistent distal ureteral stone with new hydronephrosis and periureteric fat stranding. The patient underwent urgent placement of a double-J ureteral stent, resulting in rapid clinical improvement and normalization of renal function within four days. Although small distal ureteral stones are often considered low risk, this case demonstrates that even a 4 mm calculus may lead to persistent obstruction and postrenal AKI. Clinicians should remain cautious for complications in patients with ongoing symptoms and consider timely reassessment and repeat imaging when clinical deterioration occurs.

[This corrects the article DOI: 10.7759/cureus.101847.].

The interpregnancy interval, also known as pregnancy spacing, is one of the key factors influencing physical, mental, and reproductive health outcomes of women. According to the WHO, the minimum time interval between a live birth and succeeding conception is 24 months to minimize maternal and neonatal problems. Regardless of that, according to worldwide estimates, about 35-40% of pregnancies take place in intervals of less than 24 months, especially in low- and middle-income countries. This review employed a systematic search of PubMed and Google Scholar databases for peer-reviewed literature published between 2010 and 2025, using keywords related to interpregnancy intervals and maternal outcomes. Studies were included if they provided quantitative data on maternal morbidity and were excluded if they focused exclusively on neonatal outcomes or lacked clear diagnostic criteria. The lack of knowledge and negative attitudes toward pregnancy spacing remain key contributors to closely spaced pregnancies. This review explores what women know and how they feel about space during pregnancy and determines its effect on the health of women. Based on the available literature, short periods of interpregnancy (less than 18 months) are linked to the risk of maternal anemia, postpartum complications, and postpartum depression, with rates increased by 30-45%, 20-25%, and 15-20%, respectively. On the other hand, women who are well-informed and optimistic about pregnancy spacing record increased contraceptive use (ranging 50% and above) and improved maternal health markers (6-7 on clinical scales). The knowledge/attitude/pregnancy spacing interaction is critical to producing successful health promotion interventions. Optimal birth spacing can be strengthened by enhancing the quality of education, counseling, and engagement of healthcare providers, which can result in better health and well-being for women.

This report details the long-term follow-up of a patient previously reported from our centre with recurrent acute pancreatitis and episodic jaundice in the setting of three rare anatomic variants: gallbladder agenesis, ansa pancreatica, and a santorinicele. The index report described progressive main pancreatic duct dilatation and endoscopic findings consistent with intraductal papillary mucinous neoplasm (IPMN) despite non-diagnostic cross-sectional imaging. We now present the subsequent clinical course, including elective pancreaticoduodenectomy, definitive histopathology, and surveillance outcomes. Histopathology demonstrated a 30 mm grade 2 pancreatic colloid carcinoma arising in association with an intestinal-type IPMN involving both main and branch ducts (pT2N1). This occurred despite the absence of a discrete mass or guideline-defined high-risk features on cross-sectional imaging. The postoperative course was complicated, and later remnant duct dilatation raised concern for a late pancreaticojejunostomy stricture. The patient's symptoms subsequently improved, and duct calibre decreased on surveillance imaging, with computed tomography (CT) imaging in February 2025 confirming no recurrence of malignancy. This longitudinal case demonstrates that guideline-negative cross-sectional imaging does not exclude invasive carcinoma in suspected IPMN, particularly when pancreatitis and ductal variants confound interpretation. It supports individualised management, multidisciplinary assessment, and timely consideration of resection in selected patients.

This report describes a patient with a mixed cerebral small vessel disease (CSVD) phenotype in whom approximately 11 years of longitudinal neuroimaging and clinical follow-up enabled an integrated assessment of (1) the temporal and spatial relationships between cerebral microbleeds (CMBs) and intracerebral hemorrhage (ICH), (2) the dynamic evolution of the mixed CMB distribution, and (3) the association between CMB progression and epileptic seizures. From an early stage, CMBs were present in both lobar and deep regions. Over time, their distribution expanded from lobar to deep and subsequently to infratentorial regions, and the locations of symptomatic ICH shifted in parallel. In both lobar and deep regions, ICH occurred within areas showing new CMB formation, clustering, or morphological changes. Notably, in the left parieto-occipital region, an ICH developed in very close spatial proximity to dynamically changing CMBs, strongly suggesting continuity between microvascular injury reflected by evolving CMBs and subsequent macrohemorrhage. Epileptic seizures were not fully explained by single ICH events or cross-sectional CMB burden alone. Instead, seizures tended to occur during a phase of rapid emergence and increase of lobar CMBs, and no seizure recurrence was observed after the CMB count reached a plateau. These findings raise the possibility that dynamic CMB activity may reflect an active phase of cortical small vessel injury and may be associated with seizure susceptibility. After stabilization of blood pressure and daily routines following institutionalization, new CMB formation decreased, recurrence of epileptic seizures and ICH events was suppressed, and basic activities of daily living were largely preserved. Although this is a single-case observation and cannot be generalized, long-term longitudinal imaging suggests that mixed CSVD phenotype may be better understood as a dynamic spectrum disorder. In addition to quantitative CMB burden, qualitative and temporal CMB dynamics may represent imaging markers of disease activity and may be temporally associated with ICH and epileptic seizures in selected patients.

Background: Fibroids are the most common tumors of the uterus and female genital tract. There are several treatment modalities for fibroids, spanning from watchful waiting, medical management, and surgical management, of which surgery continues to be the mainstay of treatment. It has been observed that in a few rare cases, what are presumed to be fibroids preoperatively can reveal malignancy in histopathology, the consequences of which can be grave.

Objective: The primary objective of this study was to estimate the prevalence of unexpected uterine malignancy in women undergoing surgery for uterine fibroids. The secondary objective was to study the clinical characteristics of patients with such unexpected uterine malignancy detected on histopathology.

Methods: We conducted an observational study including all patients who underwent myomectomy or hysterectomy, by any route, for uterine fibroid at the Department of Obstetrics and Gynecology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi. Any case with preoperative diagnosis of endometrial hyperplasia with atypia or any suspected malignancy was excluded. Data were collected over a period of three years from gynecologic operation theatre records, histopathology reports, and patient files. The prevalence of unexpected uterine malignancy was estimated overall.

Results: A total of 436 women underwent surgery for uterine fibroids in our study; among them, three cases of unexpected malignancy and two cases of smooth muscle tumours of uncertain malignant potential (STUMP) were identified, thus making the prevalence of 0.68% for unexpected uterine malignancy in fibroids.

Conclusion: The absolute risk of unexpected malignancy in women with fibroids is low, but the difficulty in preoperative diagnosis remains a challenge. Hence, patients should be counselled preoperatively about the likelihood of such a finding in the final histopathology.

Internal herniation through a defect in the falciform ligament of the liver is an exceptionally rare occurrence with a risk of small-bowel obstruction that can result in strangulation and bowel necrosis if diagnosis is delayed. Because of its infrequency, available evidence is limited to isolated case reports and small descriptive studies, and optimal diagnostic and operative strategies remain poorly defined. A systematic search of PubMed/MEDLINE, Embase and Cochrane Library was performed to identify English-language articles published over the past 10 years reporting cases of internal herniation through the falciform ligament. Titles and abstracts were screened using predefined inclusion and exclusion criteria, followed by full-text review. Data were extracted regarding patient demographics, presentation, imaging findings, operative management and outcomes. A qualitative synthesis was undertaken in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Seven studies met the inclusion criteria, all of which were single-patient case reports or imaging-focused descriptions. Patients typically presentations varied but included acute abdominal pain and symptoms of small-bowel obstruction, and both congenital and iatrogenic falciform ligament defects were implicated. Computed tomography frequently demonstrated closed-loop bowel positioned anterior to the liver, beak-like tapering at the site of constriction and abnormal displacement of the round ligament. All patients underwent urgent surgical intervention. Management consisted of reduction of the herniated viscus with division or closure of the falciform ligament defect, with bowel resection required when ischemia was present. Both open and laparoscopic approaches were reported, and short-term postoperative outcomes were generally favourable. Internal herniation through the falciform ligament is a rare but potentially serious surgical emergency that should be considered in cases of unexplained proximal small-bowel obstruction. Recognition of characteristic computed tomography findings may facilitate earlier diagnosis and intervention. Prompt operative exploration remains the cornerstone of management, with ligament division or closure and selective bowel resection based on intraoperative viability.