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JCEM Case Reports Jun 2024In this report we present a case of a 14-year-old girl with type 1 diabetes mellitus (T1DM) who experienced glycemic instability and multiple hormonal deficits,...
In this report we present a case of a 14-year-old girl with type 1 diabetes mellitus (T1DM) who experienced glycemic instability and multiple hormonal deficits, including diabetes insipidus, central hypothyroidism, and central adrenal insufficiency. Brain and sellar magnetic resonance imaging revealed a mass in the suprasellar region, which was confirmed to be a pituitary abscess through transsphenoidal biopsy. T1DM is a chronic systemic disease that can lead to suboptimal glycemic control and increased susceptibility to infections. Pituitary abscess is a rare and serious infection that can manifest with nonspecific signs and symptoms, as well as pituitary hormonal deficiencies. Currently, after a 6-year follow-up the pituitary hormone deficiencies have resolved apart from persistent partial diabetes insipidus. Through a review of the current literature, we discuss the clinical characteristics of pituitary abscess, the challenges in diagnosing it, and speculate on the potential clinical and pathophysiological relationship between this uncommon infection and T1DM in our patient.
PubMed: 38832005
DOI: 10.1210/jcemcr/luae057 -
JCEM Case Reports Jun 2024Osilodrostat is an 11β-hydroxylase inhibitor used in the treatment of adult patients with Cushing disease. Prolonged adrenal insufficiency (AI) after osilodrostat use...
Osilodrostat is an 11β-hydroxylase inhibitor used in the treatment of adult patients with Cushing disease. Prolonged adrenal insufficiency (AI) after osilodrostat use is a rare but significant adverse effect. We present the case of a 41-year-old woman treated with osilodrostat for persistent hypercortisolism following pituitary surgery and Gamma Knife radiosurgery. After 11 months of osilodrostat therapy, she reported AI symptoms, and biochemical testing revealed low serum cortisol following cosyntropin stimulation as well as high plasma adrenocorticotropic hormone (ACTH). The patient was started on physiologic replacement dose of hydrocortisone, which was discontinued 23 months after last osilodrostat exposure when laboratory testing revealed recovery of endogenous cortisol production. The mechanism responsible for the prolonged AI noted with osilodrostat use is unclear and unexpected, given the short half-life of the drug. Although prolonged AI after osilodrostat use is not well understood, providers should be aware of this potential adverse effect and have a low threshold to test for AI in patients reporting AI-related symptoms.
PubMed: 38832004
DOI: 10.1210/jcemcr/luae088 -
Journal of CME 2024Entrustable Professional Activities (EPAs) are an important tool to support individualisation of medical training in a competency-based setting and are increasingly...
Entrustable Professional Activities (EPAs) are an important tool to support individualisation of medical training in a competency-based setting and are increasingly implemented in the clinical speciality training for endocrinologist. This study aims to assess interrater agreement and factors that potentially impact EPA scores. Five known factors that affect entrustment decisions in health profesions training (capability, integrity, reliability, humility, agency) were used in this study. A case-vignette study using standardised written cases. Case vignettes ( = 6) on the topics thyroid disease, pituitary disease, adrenal disease, calcium and bone disorders, diabetes mellitus, and gonadal disorders were written by two endocrinologists and a medical education expert and assessed by endocrinologists experienced in the supervision of residents in training. Primary outcome is the inter-rater agreement of entrustment decisions for endocrine EPAs among raters. Secondary outcomes included the dichotomous interrater agreement (entrusted vs. non-entrusted), and an exploration of factors that impact decision-making. The study protocol was registered and approved by the Ethical Review Board of the Netherlands Association for Medical Education (NVMO-ERB # 2020.2.5). Nine endocrinologists from six different academic regions participated. Overall, the Fleiss Kappa measure of agreement for the EPA level was 0.11 (95% CI: 0.03-0.22) and for the entrustment decision 0.24 (95% CI 0.11-0.37). Of the five features that impacted the entrustment decision, capability was ranked as the most important by a majority of raters (56%-67%) in every case. There is a considerable discrepancy between the EPA levels assigned by different raters. These findings emphasise the need to base entrustment decisions on multiple observations, made by a team of supervisors and enriched with factors other than direct medical competence.
PubMed: 38831939
DOI: 10.1080/28338073.2024.2360137 -
Brain & Spine 2024Technical advances and the increasing role of interdisciplinary decision-making may warrant formal definitions of expertise in surgical neuro-oncology.
INTRODUCTION
Technical advances and the increasing role of interdisciplinary decision-making may warrant formal definitions of expertise in surgical neuro-oncology.
RESEARCH QUESTION
The EANS Neuro-oncology Section felt that a survey detailing the European neurosurgical perspective on the concept of expertise in surgical neuro-oncology might be helpful.
MATERIAL AND METHODS
The EANS Neuro-oncology Section panel developed an online survey asking questions regarding criteria for expertise in neuro-oncological surgery and sent it to all individual EANS members.
RESULTS
Our questionnaire was completed by 251 respondents (consultants: 80.1%) from 42 countries. 67.7% would accept a lifetime caseload of >200 cases and 86.7% an annual caseload of >50 as evidence of neuro-oncological surgical expertise. A majority felt that surgeons who do not treat children (56.2%), do not have experience with spinal fusion (78.1%) or peripheral nerve tumors (71.7%) may still be considered experts. Majorities believed that expertise requires the use of skull-base approaches (85.8%), intraoperative monitoring (83.4%), awake craniotomies (77.3%), and neuro-endoscopy (75.5%) as well as continuing education of at least 1/year (100.0%), a research background (80.0%) and teaching activities (78.7%), and formal interdisciplinary collaborations (e.g., tumor board: 93.0%). Academic vs. non-academic affiliation, career position, years of neurosurgical experience, country of practice, and primary clinical interest had a minor influence on the respondents' opinions.
DISCUSSION AND CONCLUSION
Opinions among neurosurgeons regarding the characteristics and features of expertise in neuro-oncology vary surprisingly little. Large majorities favoring certain thresholds and qualitative criteria suggest a consensus definition might be possible.
PubMed: 38831935
DOI: 10.1016/j.bas.2024.102822 -
Scientific Reports Jun 2024With the rapid development of imaging technology and comprehensive treatment in modern medicine, the early diagnosis rate of breast cancer is constantly improving, and...
With the rapid development of imaging technology and comprehensive treatment in modern medicine, the early diagnosis rate of breast cancer is constantly improving, and the prognosis is also improving; As breast cancer patients survive longer, the risk of developing second primary cancers increases. Since both breast and thyroid are Hormone receptor sensitive organs, which are regulated by hypothalamus pituitary target gland endocrine axis, changes in body endocrine status may lead to the occurrence of these two diseases in succession or simultaneously. This study extracted clinical data and survival outcomes of breast cancer patients registered in the Surveillance, Epidemiology and End Results (SEER) database between 2010 and 2019. After matching the case and controls with propensity scores, the selected patients were randomly split into training and test datasets at a ratio of 7:3. Univariate and multivariate COX proportional regression analysis is used to determine independent risk factors for secondary thyroid cancer and construct a column chart prediction model. Age, ethnicity, whether radiotherapy, tumor primary location, N stage, M stage were identified by Cox regression as independent factors affecting secondary thyroid cancer in patients with breast cancer patients, and a risk factor nomogram was established to predict patients' 3 and 5 year survival probabilities. The AUC values for 3 and 5 years in the training set were 0.713, 0.707, and the c-index was 0.693 (95% CI 0.67144, 0.71456), and the AUC values for 3 and 5 years in the validation set were 0.681, 0.681, and the c-index was 0.673 (95% CI 0.64164, 0.70436), respectively.
Topics: Humans; Female; Breast Neoplasms; SEER Program; Middle Aged; Risk Factors; Thyroid Neoplasms; Neoplasms, Second Primary; Propensity Score; Aged; Adult; Nomograms; Prognosis; Proportional Hazards Models
PubMed: 38830880
DOI: 10.1038/s41598-024-59209-x -
International Journal of Endocrinology 2024Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary. Because the...
OBJECTIVE
Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary. Because the etiology and clinical cognition of PSIS remain elusive, we analyzed the clinical features of PSIS in Chinese patients.
METHODS
A retrospective analysis was conducted on the clinical presentation, laboratory data, imaging examination, and management of 24 PSIS inpatients from our center over 10 years.
RESULTS
Among the 24 PSIS patients, there were 22 males (91.7%) and 2 females (8.3%). Growth hormone deficiency was present in all 24 cases (100%), hypogonadism in 24 cases (100%), secondary adrenal insufficiency in 22 cases (91.2%), and hypothyroidism in 21 cases (87.5%). 20 cases (83.3%) of PSIS patients exhibited deficiencies in four anterior pituitary hormones, 3 cases (12.5%) exhibited deficiencies in three anterior pituitary hormones, and 1 case (4.2%) exhibited deficiencies in two anterior pituitary hormones, with none exhibiting deficiencies in posterior pituitary hormones. Among the 24 PSIS patients, 12 had a history of growth hormone therapy before admission, and 12 had no such history. Additionally, 19 cases (79.2%) with PSIS were complicated by dyslipidemia, 15 cases (62.5%) were complicated by nonalcoholic fatty liver disease, and 9 cases (37.5%) were complicated by hyperuricemia.
CONCLUSIONS
PSIS often presents with growth retardation and hypogonadotropic hypogonadism, but in some cases, short stature is not exhibited. PSIS is prone to complications such as dyslipidemia, nonalcoholic fatty liver disease, and hyperuricemia, increasing the risk of cardiovascular and cerebrovascular diseases. In clinical practice, the diagnostic ability of PSIS should be improved, and pituitary function and complications should be evaluated in a timely manner to avoid delayed treatment.
PubMed: 38828392
DOI: 10.1155/2024/2493083 -
Oncology Research 2024Approximately 30%-40% of growth hormone-secreting pituitary adenomas (GHPAs) harbor somatic activating mutations in (α subunit of stimulatory G protein). Mutations in...
Approximately 30%-40% of growth hormone-secreting pituitary adenomas (GHPAs) harbor somatic activating mutations in (α subunit of stimulatory G protein). Mutations in are associated with clinical features of smaller and less invasive tumors. However, the role of mutations in the invasiveness of GHPAs is unclear. mutations were detected in GHPAs using a standard polymerase chain reaction (PCR) sequencing procedure. The expression of mutation-associated maternally expressed gene 3 () was evaluated with RT-qPCR. was manipulated in GH3 cells using a lentiviral expression system. Cell invasion ability was measured using a Transwell assay, and epithelial-mesenchymal transition (EMT)-associated proteins were quantified by immunofluorescence and western blotting. Finally, a tumor cell xenograft mouse model was used to verify the effect of on tumor growth and invasiveness. The invasiveness of GHPAs was significantly decreased in mice with mutated compared with that in mice with wild-type . Consistently, the invasiveness of mutant -expressing GH3 cells decreased. is uniquely expressed at high levels in GHPAs harboring mutated . Accordingly, upregulation inhibited tumor cell invasion, and conversely, downregulation increased tumor cell invasion. Mechanistically, mutations inhibit EMT in GHPAs. in mutated cells prevented cell invasion through the inactivation of the Wnt/β-catenin signaling pathway, which was further validated . Our data suggest that mutations may suppress cell invasion in GHPAs by regulating EMT through the activation of the signaling pathway.
Topics: GTP-Binding Protein alpha Subunits, Gs; Animals; Humans; Growth Hormone-Secreting Pituitary Adenoma; Mice; Mutation; Chromogranins; Neoplasm Invasiveness; Epithelial-Mesenchymal Transition; RNA, Long Noncoding; Female; Male; Cell Line, Tumor; Adenoma; Middle Aged; Adult; Cell Proliferation; Xenograft Model Antitumor Assays; Wnt Signaling Pathway; Gene Expression Regulation, Neoplastic
PubMed: 38827318
DOI: 10.32604/or.2024.046007 -
Brain Research Bulletin Aug 2024Subiculum is a pivotal output component of the hippocampal formation, a structure often overlooked in neuroscientific research. Here, this review aims to explore the... (Review)
Review
Subiculum is a pivotal output component of the hippocampal formation, a structure often overlooked in neuroscientific research. Here, this review aims to explore the role of the subiculum in various brain disorders, shedding light on its significance within the functional-neuroanatomical perspective on neurological diseases. The subiculum's involvement in multiple brain disorders was thoroughly examined. In Alzheimer's disease, subiculum alterations precede cognitive decline, while in epilepsy, the subiculum plays a critical role in seizure initiation. Stress involves the subiculum's impact on the hypothalamic-pituitary-adrenocortical axis. Moreover, the subiculum exhibits structural and functional changes in anxiety, schizophrenia, and Parkinson's disease, contributing to cognitive deficits. Bipolar disorder is linked to subiculum structural abnormalities, while autism spectrum disorder reveals an alteration of inward deformation in the subiculum. Lastly, frontotemporal dementia shows volumetric differences in the subiculum, emphasizing its contribution to the disorder's complexity. Taken together, this review consolidates existing knowledge on the subiculum's role in brain disorders, and may facilitate future research, diagnostic strategies, and therapeutic interventions for various neurological conditions.
Topics: Humans; Hippocampus; Brain Diseases; Alzheimer Disease
PubMed: 38825254
DOI: 10.1016/j.brainresbull.2024.110993 -
Genome Medicine May 2024Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant...
BACKGROUND
Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS).
METHODS
The International Mouse Phenotyping Consortium (IMPC) is an effort to establish gene function by knocking-out all genes in the mouse genome and generating corresponding phenotype data. We used mouse embryonic imaging data generated by the Deciphering Mechanisms of Developmental Disorders (DMDD) project to screen 209 embryonic lethal and sub-viable knockout mouse lines for pituitary malformations.
RESULTS
Of the 209 knockout mouse lines, we identified 51 that have embryonic pituitary malformations. These genes not only represent new candidates for CH, but also reveal new molecular pathways not previously associated with pituitary organogenesis. We used this list of candidate genes to mine whole exome sequencing data of a cohort of patients with CH, and we identified variants in two unrelated cases for two genes, MORC2 and SETD5, with CH and other syndromic features.
CONCLUSIONS
The screening and analysis of IMPC phenotyping data provide proof-of-principle that recessive lethal mouse mutants generated by the knockout mouse project are an excellent source of candidate genes for congenital hypopituitarism in children.
Topics: Hypopituitarism; Animals; Humans; Pituitary Gland; Mice, Knockout; Mice; Phenotype; Female; Male; Disease Models, Animal; Exome Sequencing; Septo-Optic Dysplasia
PubMed: 38822427
DOI: 10.1186/s13073-024-01347-y -
World Journal of Surgical Oncology Jun 2024Delayed epistaxis after endoscopic transnasal pituitary tumor resection (ETPTR) is a critical complication, tending to cause aspiration or hemorrhagic shock. This study...
BACKGROUND
Delayed epistaxis after endoscopic transnasal pituitary tumor resection (ETPTR) is a critical complication, tending to cause aspiration or hemorrhagic shock. This study assessed clinical characteristics, risk factors, and provide treatment and prevention advice of this complication.
METHODS
This was a retrospective monocentric analysis of 862 patients who underwent ETPTR. Statistical analyses of clinical data revealed the incidence, sources and onset time of delayed epistaxis. Univariate analysis and binary logistic regression were used to identify risk factors.
RESULTS
The incidence of delayed epistaxis was 2.78% (24/862), with an average onset time of 20.71 ± 7.39 days. The bleeding sources were: posterior nasal septal artery branch of sphenopalatine artery (12/24), multiple inflammatory mucosae (8/24), sphenopalatine artery trunk (3/24) and sphenoid sinus bone (1/24). Univariate analysis and binary logistic regression analysis confirmed that hypertension, nasal septum deviation, chronic rhinosinusitis and growth hormone pituitary tumor subtype were independent risk factors for delayed epistaxis. Sex, age, history of diabetes, tumor size, tumor invasion and operation time were not associated with delayed epistaxis. All patients with delayed epistaxis were successfully managed through endoscopic transnasal hemostasis without recurrence.
CONCLUSIONS
Delayed epistaxis after ETPTR tends to have specific onset periods and risk factors. Prevention of these characteristics may reduce the occurrence of delayed epistaxis. Endoscopic transnasal hemostasis is recommended as the preferred treatment for delayed epistaxis.
Topics: Humans; Epistaxis; Male; Female; Retrospective Studies; Middle Aged; Pituitary Neoplasms; Risk Factors; Adult; Aged; Follow-Up Studies; Prognosis; Incidence; Endoscopy; Postoperative Complications; Young Adult; Time Factors; Adolescent; Natural Orifice Endoscopic Surgery
PubMed: 38822349
DOI: 10.1186/s12957-024-03428-z