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Genes Nov 2023Knowledge of circadian rhythm clock gene expression outside the suprachiasmatic nucleus is increasing. The purpose of this study was to determine whether expression of...
Knowledge of circadian rhythm clock gene expression outside the suprachiasmatic nucleus is increasing. The purpose of this study was to determine whether expression of circadian clock genes differed within or among the bovine stress axis tissues (e.g., amygdala, hypothalamus, pituitary, adrenal cortex, and adrenal medulla). Tissues were obtained at an abattoir from eight mature nonpregnant Brahman cows that had been maintained in the same pasture and nutritional conditions. Sample tissues were stored in RNase-free sterile cryovials at -80 °C until the total RNA was extracted, quantified, assessed, and sequenced (NovaSeq 6000 system; paired-end 150 bp cycles). The trimmed reads were then mapped to a () reference genome (Umd3.1). Further analysis used the edgeR package. Raw gene count tables were read into RStudio, and low-expression genes were filtered out using the criteria of three minimum reads per gene in at least five samples. Normalization factors were then calculated using the trimmed mean of M values method to produce normalized gene counts within each sample tissue. The normalized gene counts important for a circadian rhythm were analyzed within and between each tissue of the stress axis using the GLM and CORR procedures of the Statistical Analysis System (SAS). The relative expression profiles of circadian clock genes differed ( < 0.01) within each tissue, with neuronal PAS domain protein 2 () having greater expression in the amygdala ( < 0.01) and period circadian regulator () having greater expression in all other tissues ( < 0.01). The expression among tissues also differed ( < 0.01) for individual circadian clock genes, with circadian locomotor output cycles protein kaput () expression being greater within the adrenal tissues and nuclear receptor subfamily 1 group D member 1 () expression being greater within the other tissues ( < 0.01). Overall, the results indicate that within each tissue, the various circadian clock genes were differentially expressed, in addition to being differentially expressed among the stress tissues of mature Brahman cows. Future use of these findings may assist in improving livestock husbandry and welfare by understanding interactions of the environment, stress responsiveness, and peripheral circadian rhythms.
Topics: Female; Cattle; Animals; Circadian Clocks; Period Circadian Proteins; Circadian Rhythm; Hypothalamus; Adrenal Glands
PubMed: 38003025
DOI: 10.3390/genes14112082 -
Archivos Argentinos de Pediatria Apr 2024Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those...
Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.
Topics: Humans; Male; Child; Pheochromocytoma; Argentina; Paraganglioma; Adrenal Gland Neoplasms; Hypertension; Hospitals
PubMed: 37999372
DOI: 10.5546/aap.2023-10099.eng -
Cureus Oct 2023Pheochromocytomas are rare tumors that arise from the sympathetic ganglia or adrenal medulla and secrete catecholamines that are known for the classic triad of...
Pheochromocytomas are rare tumors that arise from the sympathetic ganglia or adrenal medulla and secrete catecholamines that are known for the classic triad of headaches, profuse sweating, and paroxysmal hypertension. However, there have been instances of asymptomatic patients found to have a pheochromocytoma. Adrenal incidentalomas are accidentally discovered through radiologic imaging, and subsequent testing can confirm a pheochromocytoma. Here, we present a case of a 67-year-old female found to have an adrenal incidentaloma on kidney ultrasound (US) after presenting to the emergency room (ER) due to nausea. She had minimally elevated creatinine at the ER. At her follow-up with her primary care provider (PCP), a kidney US was ordered and showed a probable right suprarenal mass. Further abdominal computed tomography (CT) and abdominal magnetic resonance imaging (MRI) showed that the mass was indeed adrenal, but its etiology is considered indeterminant. Although asymptomatic, further biochemical tests showed elevated serum and urine metanephrines and normetanephrines. Together, these findings revealed that the adrenal mass was likely a silent pheochromocytoma. She underwent a successful right adrenalectomy with pathology confirming pheochromocytoma. This case adds to the literature on the existence of silent pheochromocytomas and highlights the importance of following up on any abnormal findings with a PCP. This patient, although asymptomatic from her pheochromocytoma, needed surgery to prevent possible pheochromocytoma crises, which could cause cardiovascular complications and even death.
PubMed: 37954727
DOI: 10.7759/cureus.46915 -
Endocrine Journal Jan 2024Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that secrete catecholamines and arise from the adrenal medulla or extra-adrenal sympathetic ganglia. These... (Review)
Review
Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that secrete catecholamines and arise from the adrenal medulla or extra-adrenal sympathetic ganglia. These tumors secrete adrenaline and noradrenaline, but paragangliomas usually produce only noradrenaline because of the lack of phenylethanolamine N-methyltransferase (PNMT) expression. Composite paragangliomas, which are complex tumors consisting of multiple types of neuroblastic cells, are extremely rare. We present the case of a 46-year-old woman with an atypical catecholamine profile who was preoperatively diagnosed with pheochromocytoma. However, postoperative pathology revealed that the patient had an extra-adrenal paraganglioma accompanied by a ganglioneuroma, which led to the diagnosis of a composite tumor. Interestingly, PNMT is expressed in both paragangliomas and ganglioneuromas. In addition, we reviewed reported composite paragangliomas and compared their clinical features with those of composite pheochromocytomas. We also discuss various aspects of the etiology of composite paragangliomas and the mechanism by which PNMT is expressed in tumors.
Topics: Female; Humans; Middle Aged; Catecholamines; Pheochromocytoma; Ganglioneuroma; Phenylethanolamine N-Methyltransferase; Paraganglioma; Adrenal Gland Neoplasms; Norepinephrine
PubMed: 37952980
DOI: 10.1507/endocrj.EJ23-0271 -
Therapeutic Advances in Endocrinology... 2023This article aims to review current concepts in diagnosing and managing pheochromocytoma and paraganglioma (PPGL). Personalized genetic testing is vital, as 40-60% of... (Review)
Review
This article aims to review current concepts in diagnosing and managing pheochromocytoma and paraganglioma (PPGL). Personalized genetic testing is vital, as 40-60% of tumors are linked to a known mutation. Tumor DNA should be sampled first. Next-generation sequencing is the best and most cost-effective choice and also helps with the expansion of current knowledge. Recent advancements have also led to the increased incorporation of regulatory RNA, metabolome markers, and the NETest in PPGL workup. PPGL presentation is highly volatile and nonspecific due to its multifactorial etiology. Symptoms mainly derive from catecholamine (CMN) excess or mass effect, primarily affecting the cardiovascular system. However, paroxysmal nature, hypertension, and the classic triad are no longer perceived as telltale signs. Identifying high-risk subjects and diagnosing patients at the correct time by using appropriate personalized methods are essential. Free plasma/urine catecholamine metabolites must be first-line examinations using liquid chromatography with tandem mass spectrometry as the gold standard analytical method. Reference intervals should be personalized according to demographics and comorbidity. The same applies to result interpretation. Threefold increase from the upper limit is highly suggestive of PPGL. Computed tomography (CT) is preferred for pheochromocytoma due to better cost-effectiveness and spatial resolution. Unenhanced attenuation of >10HU in non-contrast CT is indicative. The choice of extra-adrenal tumor imaging is based on location. Functional imaging with positron emission tomography/computed tomography and radionuclide administration improves diagnostic accuracy, especially in extra-adrenal/malignant or familial cases. Surgery is the mainstay treatment when feasible. Preoperative α-adrenergic blockade reduces surgical morbidity. Aggressive metastatic PPGL benefits from systemic chemotherapy, while milder cases can be managed with radionuclides. Short-term postoperative follow-up evaluates the adequacy of resection. Long-term follow-up assesses the risk of recurrence or metastasis. Asymptomatic carriers and their families can benefit from surveillance, with intervals depending on the specific gene mutation. Trials primarily focusing on targeted therapy and radionuclides are currently active. A multidisciplinary approach, correct timing, and personalization are key for successful PPGL management.
PubMed: 37916027
DOI: 10.1177/20420188231207544 -
JCEM Case Reports May 2023Pheochromocytomas are rare catecholamine-secreting neuroendocrine tumors of the adrenal medulla chromaffin cells, usually associated with features of catecholamine...
Pheochromocytomas are rare catecholamine-secreting neuroendocrine tumors of the adrenal medulla chromaffin cells, usually associated with features of catecholamine excess. Clinically and biochemically silent pheochromocytoma without adrenergic symptoms or elevated catecholamine concentrations are rare. A 71-year-old female presented with acute right flank pain with abdominal computed tomography (CT) scan revealing a hemorrhagic right adrenal mass. She had no preceding adrenergic symptoms, and normal serum electrolytes, on a background of well-controlled hypertension on amlodipine monotherapy. After conservative management and discharge, an outpatient CT adrenal scan confirmed an 88 × 64 mm right adrenal mass demonstrating intense avidity (maximum standardized uptake value, 20.2) on fluorodeoxyglucose F 18-positron emission tomography (FDG-PET)/CT scan. Biochemical screening supported a nonfunctional adrenal lesion with normal-range plasma normetanephrines and metanephrines. She underwent a right adrenalectomy for presumed nonfunctioning adrenocortical cancer; however, histopathology demonstrated a 120-mm pheochromocytoma. Succinate dehydrogenase subunit B (SDHB) and fumarate hydratase (FH) staining were retained; however, weakly positive 2SC staining raised concerns for FH-deficient pheochromocytoma. Germline DNA sequencing was negative for pathogenic RET, VHL, SDHB, SDHD, or FH variants. Tumor cells stained positive for tyrosine hydroxylase and negative for dopamine β hydroxylase. Four months postoperatively, progress FDG-PET/CT scan demonstrated no focal avidity. Massive biochemically silent pheochromocytomas are exceedingly rare, and we discuss various mechanisms that may predispose patients to this phenomenon.
PubMed: 37908587
DOI: 10.1210/jcemcr/luad061 -
JCEM Case Reports May 2023Pheochromocytomas are neuroendocrine tumors that arise from chromaffin cells in the adrenal medulla. Giant pheochromocytomas commonly measure greater than 7 to 10 cm,...
Pheochromocytomas are neuroendocrine tumors that arise from chromaffin cells in the adrenal medulla. Giant pheochromocytomas commonly measure greater than 7 to 10 cm, and their incidence and presentation is not well known. We present a case of a 62-year-old female with a giant 15.9 cm cystic pheochromocytoma. The patient was medically managed with oral phenoxybenzamine solution dose 4 times greater than average and was treated with a radical left nephrectomy and adrenalectomy. This case offers insight into the clinical presentation of giant pheochromocytomas and the unique challenges they present both medically and surgically.
PubMed: 37908578
DOI: 10.1210/jcemcr/luad065 -
Cureus Sep 2023We report a rare case of a solitary paraganglioma arising from the small bowel mesentery, found in a 70-year-old female who presented with abdominal pain. Paragangliomas...
We report a rare case of a solitary paraganglioma arising from the small bowel mesentery, found in a 70-year-old female who presented with abdominal pain. Paragangliomas are rare neuroendocrine, neural crest-derived tumors, most commonly found in the adrenal medulla. While extra-adrenal paragangliomas arise from diverse locations, mesenteric origins are extremely rare. Our comprehensive review shows 35 previously documented cases and updates the epidemiology, clinical features, and outcomes of mesenteric paragangliomas.
PubMed: 37868495
DOI: 10.7759/cureus.45685 -
Annals of Cardiac Anaesthesia 2023Pheochromocytomas are catecholamine-secreting tumours arising mostly from the adrenal medulla. With the advancement in surgical and anaesthetic techniques, the incidence...
Pheochromocytomas are catecholamine-secreting tumours arising mostly from the adrenal medulla. With the advancement in surgical and anaesthetic techniques, the incidence of severe morbidity and mortality associated with surgery is low. However, concurrent coronary artery disease and pheochromocytoma continue to be a challenge due to the risk of adverse cardiovascular events. We describe the successful management of pheochromocytoma excision in a patient with coronary artery disease.
Topics: Humans; Pheochromocytoma; Coronary Artery Disease; Adrenalectomy; Adrenal Gland Neoplasms; Anesthesia; Laparoscopy
PubMed: 37861585
DOI: 10.4103/aca.aca_14_23 -
Pflugers Archiv : European Journal of... Jan 2024
Topics: Calcium; Chromaffin Cells; Adrenal Glands; Adrenal Medulla; Catecholamines
PubMed: 37843577
DOI: 10.1007/s00424-023-02867-z