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Journal of Personalized Medicine Oct 2023Mast cell activation syndrome (MCAS) is an immune disease with an estimated prevalence of 17%. Mast cell chemical mediators lead to heterogeneous multisystemic...
Mast cell activation syndrome (MCAS) is an immune disease with an estimated prevalence of 17%. Mast cell chemical mediators lead to heterogeneous multisystemic inflammatory and allergic manifestations. This syndrome is associated with various neurologic and psychiatric disorders, including headache, dysautonomia, depression, generalized anxiety disorder, and many others. Although MCAS is common, it is rarely recognized, and thus, patients can suffer for decades. The syndrome is caused by aberrant mast cell reactivity due to the mutation of the controller gene. A case series is presented herein including eight patients with significant neuropsychiatric disorders that were often refractory to standard medical therapeutics. Five patients had depression, five had generalized anxiety disorder, and four had panic disorder. Other psychiatric disorders included attention-deficit hyperactivity disorder, obsessive compulsive disorder, phobias, and bipolar disorder. All eight patients were subsequently diagnosed with mast cell activation syndrome; six had comorbid autonomic disorders, the most common being postural orthostatic tachycardia syndrome; and four had hypermobile Ehlers-Danlos syndrome. All patients experienced significant improvements regarding neuropsychiatric and multisystemic symptoms after mast-cell-directed therapy. In neuropsychiatric patients who have systemic symptoms and syndromes, it is important to consider the presence of an underlying or comorbid MCAS.
PubMed: 38003876
DOI: 10.3390/jpm13111562 -
African Journal of Thoracic and... 2019Advances in critical care medicine have led to reduced mortality but increased morbidity. Post-intensive care unit syndrome (PICS) develops after critical illness and... (Review)
Review
Advances in critical care medicine have led to reduced mortality but increased morbidity. Post-intensive care unit syndrome (PICS) develops after critical illness and presents as cognitive, physical and/or psychosocial impairments. PICS is prevalent in 10 - 36% of patients after discharge from paediatric intensive care unit. Multiple risk factors are associated with PICS, but there is no single causal factor. Factors range from clinical illnesses to intensive care intervention. The care plan should be aimed at prevention, early identification and post-ICU management of PICS by a multidisciplinary team.
PubMed: 34286263
DOI: 10.7196/AJTCCM.2019.v25i4.027 -
Lasers in Surgery and Medicine Feb 2017Gynecologist and plastic surgeons pioneered the application of lasers in medicine and surgery almost 5 decades ago, initially used to treat cervical and vaginal... (Review)
Review
Gynecologist and plastic surgeons pioneered the application of lasers in medicine and surgery almost 5 decades ago, initially used to treat cervical and vaginal pathologies. Ever since, energy-based devices have been deployed to treat pelvic pathologies and improve fertility. Recent technological developments triggered an unprecedented wave of publications, assessing the efficacy of fractional laser, and radiofrequency on the vaginal wall in reversing natural aging processes. Studies have shown that a certain degree of thermal energy deposited on the vaginal wall stimulates proliferation of the glycogen-enriched epithelium, neovascularization, and collagen formation in the lamina propria, and improves natural lubrication and control of urination. This review aimed to review such data and to guide future research. A unique assembly of experts from around the globe, compiled and edited this manuscript based on a thorough literature review and personal experience. Lasers Surg. Med. 49:137-159, 2017. © 2017 Wiley Periodicals, Inc.
Topics: Female; Female Urogenital Diseases; Humans; Laser Therapy; Menopause; Syndrome
PubMed: 28220946
DOI: 10.1002/lsm.22637 -
Clinical Diabetes and Endocrinology Nov 2020Nelson's syndrome is a well-described complication following bilateral adrenalectomy for management of Cushing's disease. There is no consensus on optimal management of...
BACKGROUND
Nelson's syndrome is a well-described complication following bilateral adrenalectomy for management of Cushing's disease. There is no consensus on optimal management of Nelson's syndrome, characterized by the triad of pituitary corticotroph adenoma growth, elevated serum adrenocorticotropic hormone, and skin hyperpigmentation. Medical therapy with a variety of drug classes have been studied. One potentially promising drug already approved for Cushing's disease is pasireotide, a somatostatin analog with affinity for multiple somatostatin receptors, including subtype 5, the most highly expressed receptor on corticotroph tumors.
CASE PRESENTATION
A 24-year-old female was diagnosed with Cushing's disease with initial ACTH levels around 700-800 pg/mL. She underwent transsphenoidal surgery without remission, followed by bilateral adrenalectomy. Over the subsequent 3 years, the patient developed skin hyperpigmentation, recurrent elevations of ACTH, and tumor recurrence requiring two additional transsphenoidal surgeries. After her third transsphenoidal resection, ACTH normalized, no residual tumor was seen on radiology, and the patient's skin hyperpigmentation improved. She then had an uncomplicated full-term pregnancy, during which ACTH levels remained within normal limits. One month after delivery, ACTH levels began rising to a peak at 5,935 pg/mL. Imaging revealed two new bilateral pituitary adenomas, measuring 14 mm on the left, and 7 mm on the right. She was then started on pasireotide. After two months of therapy, ACTH decreased to 609 pg/mL, and repeat pituitary MRI showed interval decrease in size of both pituitary adenomas to 13 mm on the left and 6 mm on the right.
CONCLUSION
We report the protracted course of a young female with several recurrences of Nelson's syndrome following bilateral adrenalectomy and multiple transsphenoidal surgeries, who ultimately responded to pasireotide. Unique features of her case not described previously are the response to pasireotide in a radiotherapy-naive patient, as well as the rapid radiologic response to therapy. Her history illustrates the unresolved challenges of Nelson's syndrome and the continued need for additional studies to identify optimal management.
PubMed: 33292741
DOI: 10.1186/s40842-020-00110-7 -
Journal of Cardiovascular Development... Jul 2016For more than a decade, stem cell therapy has been the focus of intensive efforts for the treatment of adult heart disease, and now has promise for treating the... (Review)
Review
For more than a decade, stem cell therapy has been the focus of intensive efforts for the treatment of adult heart disease, and now has promise for treating the pediatric population. On the basis of encouraging results in the adult field, the application of stem cell-based strategies in children with congenital heart disease (CHD) opens a new therapy paradigm. To date, the safety and efficacy of stem cell-based products to promote cardiac repair and recovery in dilated cardiomyopathy and structural heart disease in infants have been primarily demonstrated in scattered clinical case reports, and supported by a few relevant pre-clinical models. Recently the TICAP trial has shown the safety and feasibility of intracoronary infusion of autologous cardiosphere-derived cells in children with hypoplastic left heart syndrome. A focus on preemptive cardiac regeneration in the pediatric setting may offer new insights as to the timing of surgery, location of cell-based delivery, and type of cell-based regeneration that could further inform acquired cardiac disease applications. Here, we review the current knowledge on the field of stem cell therapy and tissue engineering in children with CHD, and discuss the gaps and future perspectives on cell-based strategies to treat patients with CHD.
PubMed: 29367570
DOI: 10.3390/jcdd3030024 -
Life (Basel, Switzerland) Nov 2014Although changes to visual acuity in spaceflight have been observed in some astronauts since the early days of the space program, the impact to the crew was considered... (Review)
Review
Although changes to visual acuity in spaceflight have been observed in some astronauts since the early days of the space program, the impact to the crew was considered minor. Since that time, missions to the International Space Station have extended the typical duration of time spent in microgravity from a few days or weeks to many months. This has been accompanied by the emergence of a variety of ophthalmic pathologies in a significant proportion of long-duration crewmembers, including globe flattening, choroidal folding, optic disc edema, and optic nerve kinking, among others. The clinical findings of affected astronauts are reminiscent of terrestrial pathologies such as idiopathic intracranial hypertension that are characterized by high intracranial pressure. As a result, NASA has placed an emphasis on determining the relevant factors and their interactions that are responsible for detrimental ophthalmic response to space. This article will describe the Visual Impairment and Intracranial Pressure syndrome, link it to key factors in physiological adaptation to the microgravity environment, particularly a cephalad shifting of bodily fluids, and discuss the implications for ocular biomechanics and physiological function in long-duration spaceflight.
PubMed: 25387162
DOI: 10.3390/life4040621 -
Frontiers in Endocrinology 2021Cushing's disease is a syndromic pathological condition caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas (ACTHomas) mediated by... (Review)
Review
Cushing's disease is a syndromic pathological condition caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas (ACTHomas) mediated by hypercortisolemia. It may have a severe clinical course, including infection, psychiatric disorders, hypercoagulability, and metabolic abnormalities, despite the generally small, nonaggressive nature of the tumors. Up to 20% of ACTHomas show aggressive behavior, which is related to poor surgical outcomes, postsurgical recurrence, serious clinical course, and high mortality. Although several gene variants have been identified in both germline and somatic changes in Cushing's disease, the pathophysiology of aggressive ACTHomas is poorly understood. In this review, we focused on the aggressiveness of ACTHomas, its pathology, the current status of medical therapy, and future prospects. Crooke's cell adenoma (CCA), Nelson syndrome, and corticotroph pituitary carcinoma are representative refractory pituitary tumors that secrete superphysiological ACTH. Although clinically asymptomatic, silent corticotroph adenoma is an aggressive ACTH-producing pituitary adenoma. In this review, we summarize the current understanding of the pathophysiology of aggressive ACTHomas, including these tumors, from a molecular point of view based on genetic, pathological, and experimental evidence. The treatment of aggressive ACTHomas is clinically challenging and usually resistant to standard treatment, including surgery, radiotherapy, and established medical therapy (e.g., pasireotide and cabergoline). Temozolomide is the most prescribed pharmaceutical treatment for these tumors. Reports have shown that several treatments for patients with refractory ACTHomas include chemotherapy, such as cyclohexyl-chloroethyl-nitrosourea combined with 5-fluorouracil, or targeted therapies against several molecules including vascular endothelial growth factor receptor, cytotoxic T lymphocyte antigen 4, programmed cell death protein 1 (PD-1), and ligand for PD-1. Genetic and experimental evidence indicates that some possible therapeutic candidates are expected, such as epidermal growth factor receptor tyrosine kinase inhibitor, cyclin-dependent kinase inhibitor, and BRAF inhibitor. The development of novel treatment options for aggressive ACTHomas is an emerging task.
Topics: ACTH-Secreting Pituitary Adenoma; Adenoma; Adrenocorticotropic Hormone; Carcinoma; Dopamine Agonists; Humans; Ketoconazole; Ligands; Nelson Syndrome; Pathology, Molecular; Pituitary ACTH Hypersecretion; Pituitary Neoplasms; Receptors, Somatostatin; Reproducibility of Results; Steroids; Syndrome; Temozolomide; Vascular Endothelial Growth Factor A
PubMed: 34220707
DOI: 10.3389/fendo.2021.650791 -
Indian Journal of Ophthalmology Sep 2020Ocular manifestations of Sweet syndrome, or acute febrile neutrophilic dermatosis, are usually limited to the anterior segment. We report the case of a patient with...
Ocular manifestations of Sweet syndrome, or acute febrile neutrophilic dermatosis, are usually limited to the anterior segment. We report the case of a patient with bilateral panuveitis and retinal vasculitis associated with Sweet syndrome. A 45-year-old Asian female with an undiagnosed febrile illness with rash presented with bilateral panuveitis with haemorrhagic occlusive retinal vasculitis. Skin biopsy confirmed Sweet Syndrome. Intraocular inflammation resolved with a combination of topical and systemic corticosteroids as well as intravenous cyclophosphamide, with resulting permanent severe right visual impairment. Although an uncommon condition, Sweet syndrome should be considered in any febrile patient with skin lesions and uveitis.
Topics: Biopsy; Female; Humans; Middle Aged; Panuveitis; Retinal Vasculitis; Skin; Sweet Syndrome
PubMed: 32823459
DOI: 10.4103/ijo.IJO_1667_19 -
World Journal of Psychiatry Feb 2024This editorial addresses catatonia, a complex neuropsychiatric syndrome characterised by a spectrum of psychomotor disturbances. The editorial seeks to clarify the...
This editorial addresses catatonia, a complex neuropsychiatric syndrome characterised by a spectrum of psychomotor disturbances. The editorial seeks to clarify the ambiguous aspects of catatonia, integrating recent research findings, including global studies and diagnostic advancements. It discusses catatonia's clinical manifestations, prevalence, and associated psychiatric and medical conditions, with particular emphasis on its frequent co-occurrence with schizophrenia and mood disorders. The prevalence of catatonia, which varies across psychiatric populations, is illustrated by a significant study conducted in Nelson Mandela Bay, South Africa. This study provides valuable insights into the effectiveness of the Bush-Francis Screening Instrument compared to the Diagnostic and Statistical Manual 5 criteria in diagnosing catatonia. The editorial evaluates treatment approaches, primarily focusing on benzodiazepines and electroconvulsive therapy, and discusses emerging therapeutic strategies. It underscores the importance of robust diagnostic frameworks and early intervention in managing catatonia, as recommended by the latest evidence-based consensus guideline. Furthermore, it suggests future research directions, particularly in exploring the neurobiological and genetic factors of catatonia, to enhance our understanding and improve treatment outcomes. This editorial succinctly aims to demystify catatonia and provide valuable insights for clinicians and researchers in mental health care.
PubMed: 38464767
DOI: 10.5498/wjp.v14.i2.210 -
Asian Journal of Surgery Mar 2022
Meta-Analysis
Topics: Adrenalectomy; Humans; Nelson Syndrome; Pituitary Neoplasms; Radiosurgery
PubMed: 35031183
DOI: 10.1016/j.asjsur.2021.12.051