Hasil untuk "Diseases of the endocrine glands. Clinical endocrinology"

Emily Gossen-Perez, Minglan Li, Elizabeth Lewis-Hills et al.

Abstract Introduction The burden of type 2 and gestational diabetes in pregnancy is highest amongst those underserved by health systems, including Indigenous peoples, persons of colour, and ethnic minority groups. Continuous glucose monitoring (CGM) is an emerging technology that provides real time analyses of interstitial glycemia. Although the evidence of impact of CGM on glycemia monitoring in pregnancy and neonatal outcomes has been synthesised, the extent to which persons of colour, minority and Indigenous populations have been represented in this evidence base remains unclear. Objectives To describe (1) the extent to which Indigenous and/or not-white minority populations have been included in research of CGM as part of antenatal care for patients with diabetes in pregnancy. (2) The extent to which Indigenous and/or not-white minority populations have been included in research regarding acceptability or experience of CGM use in pregnancy. (3) Any specified methods to reduce barriers to Indigenous and minority people's participation within randomised clinical trials of CGM in management of diabetes in pregnancy. Methods Scoping review was conducted in accordance with the Joanna Briggs Institute (JBI) methodology for scoping reviews. A systematic search was undertaken across 2 databases, and abstracts and full texts reviewed by two independent reviewers. Data was extracted to summary tables. Findings From 1209 imported references we identified 28 studies assessing use of antenatal CGM on clinical outcomes and 11 studies assessing acceptability or satisfaction of CGM use in pregnancy. Ethnicity was reported in 15/28 studies of clinical outcomes and 3/11 studies addressing acceptability. Across 15 studies that reported ethnicity, there was low representation of persons of colour, ethnic minority, and Indigenous populations. Within randomised studies of antenatal CGM use we did not identify methodology that was described as specifically used to increase participation or retention of minority groups. Conclusion Ethnicity of participants in antenatal CGM research has not been consistently reported. In most studies where ethnicity is reported, there is under representation of persons of colour, ethnic minorities and Indigenous peoples. There exists a scientific, ethical and public health policy imperative to ensure that future research on antenatal CGM is designed to be both accessible and culturally acceptable to Indigenous, persons of colour and ethnic minority groups.

Alessandro Mangogna, Alessandro Mangogna, Giovanna Sabella et al.

Jinheng Xiao, Sen Yang, Qingyuan Zheng et al.

Conclusion: The main reasons for the inconsistency were attributed to the pathological type and sequencing method. More inconsistent results were detected in the PC group and the non-NGS group.

Danica Galešić Ljubanović

na (conference abstracts)

Sofia Llahana, Julia Anthony, Kyriakie Sarafoglou et al.

BackgroundAdrenal crisis is the leading cause of death in patients with adrenal insufficiency, and prevention requires immediate parenteral hydrocortisone administration. However, most patients do not receive their home emergency hydrocortisone injection. Our study aimed to investigate barriers and enablers to using emergency hydrocortisone injections in managing adrenal crises.MethodsThis mixed-methods observational study utilized an online survey distributed through two U.S.-based patient advocacy groups. A total of 688 respondents completed the survey, including 485 (70%) parents/caregivers of individuals with adrenal insufficiency and 203 (30%) adults with adrenal insufficiency. Qualitative free-text responses were analyzed using thematic content analysis, with subsequent quantification of identified barriers and enablers to administering parenteral hydrocortisone during adrenal crises.ResultsOver 60% of patients with adrenal insufficiency had required parenteral hydrocortisone for an adrenal crisis, yet fewer than 20% managed to self-inject. Thirteen barriers and nine enablers were identified across three thematic domains: device factors, external factors, and emotional factors. Key barriers included the complexity of the multi-step hydrocortisone injection process (81%), injection-related anxiety and lack of confidence (18%), challenges accessing the correct hydrocortisone formulation or equipment (38%), and inadequate support for managing adrenal crises (29%). Key enablers included the effectiveness of hydrocortisone (14%), the convenience of the combined powder-and-diluent hydrocortisone vial (36%), and patient education (4%). Notably, 97% of participants expressed a preference for a hydrocortisone autoinjector to enhance self-injection capabilities.ConclusionEffective adrenal crisis management requires comprehensive, evidence-based interventions across patient, healthcare, and societal levels. This should include the development of user-friendly hydrocortisone delivery devices, individualized patient education, healthcare system reforms, and public awareness.

Sangmo Hong, Kyungdo Han, Cheol-Young Park

Acromegaly is a rare endocrine disorder caused by excessive growth hormone secretion. Its low prevalence poses challenges in studying its long-term prognosis and systemic effects. To address this research gap, we conducted five studies using nationwide cohort data from the Korean National Health Insurance Database (NHID). This review consolidates the findings of these studies, which examined various long-term effects of acromegaly. The results demonstrated significant associations between acromegaly and increased mortality, a higher prevalence of mortality, cardiovascular outcomes, neurodegenerative diseases, depression, end-stage kidney disease, respiratory complications, specifically bronchiectasis, spine & hip fracture, and malignancy. These findings highlight the critical need for early diagnosis, comprehensive care, and long-term monitoring, and underscore the importance of a multidisciplinary approach in managing acromegaly.

Adisa Poljo, Jennifer M. Klasen, Marco von Strauss und Torney et al.

Abstract Background Teratomas are germ cell tumors composed of somatic tissues from up to three germ layers. Primary retroperitoneal teratomas usually develop during childhood and are uncommon in adults and in the retroperitoneal space. While there are only a few cases of retroperitoneal thyroid tissue, we report a unique case of a retroperitoneal papillary thyroid carcinoma. Case presentation A 41-year-old woman presented in our institution due to intermitted unspecific abdominal pain. Magnetic resonance imaging detected a multi-cystic solid retroperitoneal mass ventral to the psoas muscle and the left iliac artery. After surgical removal of the retroperitoneal mass, histology sections of the specimen indicated evidence of papillary thyroid carcinoma cells. A staging computed tomography scan of the body showed no further manifestations. To reduce the risk of recurrence, total thyroidectomy was performed followed by radioiodine therapy with lifelong hormone substitution. Conclusions Primary retroperitoneal teratoma with evidence of papillary thyroid carcinoma is a rare condition. Preoperative diagnosis is difficult due to its non-specific clinical manifestation and lack of specific radiologic findings. Histopathology analysis is necessary for diagnosis. Although surgery is considered the first line treatment, there is still discussion about the extent of resection and the need for total thyroidectomy with adjuvant radioiodine therapy.

Samuel R Miller, Shejil Kumar, Alexander Yuile et al.

Hypercalcaemia is a common complication seen in malignancy, frequently due to paraneoplastic parathyroid hormone-related peptide production or osteolytic bony metastases. We present a 58-year-old female with immunotherapy-mediated hypophysitis causing secondary cortisol deficiency resulting in severe glucocorticoid-responsive hypercalcaemia. Whilst hypophysitis is a well recognised adverse event in those receiving immunotherapy for advanced malignancy, it does not typically present with hypercalcaemia. The mechanism responsible for hypercalcaemia due to hypocortisolaemia has not been fully elucidated although hypotheses include the effects of volume depletion and thyroxine’s action on bone. Prompt treatment with glucocorticoids caused an improvement in the patient’s symptoms and corrected her hypercalcaemia which later returned after an attempted glucocorticoid wean. With the increasing uptake of immunotherapy, clinicians should be aware of this unusual presentation of immunotherapy-related hypophysitis and secondary hypocortisolaemia which can be life-threatening if the diagnosis is delayed.

Ariel Iván Ruiz-Parra

La menopausia fisiológica se define como el cese de las menstruaciones que ocurre por el agotamiento de folículos primordiales y la resistencia de las estructuras foliculares a la acción de las gonadotropinas. El término se aplica cuando se ha completado un año sin menstruaciones, por lo que es una fecha que se establece en forma retrospectiva. En este sentido, la postmenopausia es la expresión correcta para referirse a la situación de las mujeres que han sobrepasado este momento. En un estudio multicéntrico realizado en América Latina, se encontró que la mediana de edad de la menopausia fue de 48.6 años, con rango de 43.8 años en Asunción (Paraguay) a 53 años en Cartagena (Colombia).               Desde el punto de vista endocrinológico, la menopausia se caracteriza por un hipogonadismo-hipergonadotrópico. Sin embargo, la menopausia fisiológica no es la única causa de este estado hormonal, otras causas de insuficiencia ovárica primaria, que se pueden presentar incluso desde edades muy tempranas, también se caracterizan por hipogonadismo-hipergonadotrópico.  Tal es el caso de disgenesias gonadales, lesiones autoinmunes del ovario, efectos de radioterapia pélvica o de quimioterapia con agentes alquilantes, ooforectomía bilateral por indicaciones benignas o malignas, cistectomías repetidas, premutación en el gen FMR1 para X frágil, galactosemia no tratada, y menopausia precoz idiopática, entre otras.

Christine Hvolby Amanoal, Lene Kongsgaard Nielsen, Henrik Holm Thomsen

Iron metabolism and markers hereof are altered in anorexia nervosa (AN) but far from completely understood. We report a case of extreme hyperferritinemia in a patient with AN and discuss the possible mechanisms and current knowledge about the association between hyperferritinemia and AN. A 20-year-old woman with a history of AN presented with bradycardia, weariness, and malaise in addition to an incidentally very high ferritin level. The symptoms disappeared spontaneously after a short admission. There were no signs suggestive of systemic, hematological, or malignant disease causing the very high concentration of ferritin. Her body weight was in decline, leading up to admission, but did initially increase after discharge accompanied by declining ferritin concentration. However, a clear association between ferritin dynamics and weight changes or physical activity was not identified and neither were other causes of the hyperferritinemia. Around one in four patients with AN have increased ferritin concentrations. Our case represents the highest ferritin concentration reported in a patient with AN without other underlying causes or comorbidities.

Chiara Mele, Antonio De Tanti, Sergio Bagnato et al.

PurposeA potential involvement of thyrotropic axis in influencing the state of consciousness could be hypothesized. We aimed at investigating thyroid function tests as predictors of disorders of consciousness (DoC) and relating recovery in a large cohort of patients with DoC secondary to acquired brain injury (ABI).MethodsThis retrospective, multicenter, cohort study included 151 patients with DoC following ABI, consecutively admitted for a 6-month neurorehabilitation program. Data on etiology of brain injury, evolution of DoC, disability and rehabilitation assessments, and death during rehabilitation were collected at baseline and on discharge. Thyroid function tests (serum TSH, fT4 and fT3 levels) were assessed on admission in all patients and at final discharge in 50 patients.ResultsLower baseline TSH levels and greater TSH increments (ΔTSH) after neurorehabilitation predicted a favorable change in DoC independent of age, sex, BMI, etiology of brain injury and initial DoC subtype (TSH: OR=0.712, CI 95% 0.533-0.951, p=0.01; ΔTSH: OR=2.878, CI 95% 1.147-7.223, p=0.02). On the other hand, neither fT4 nor fT3 or their variations appeared to play any role on DoC changes after 6-months inpatient neurorehabilitation. A lower magnitude of ΔfT4 acted as a strong predictor of improved functional disability level (β=0.655, p=0.002) and cognitive functions (β=-0.671, p=0.003), implying that smaller changes in fT4 were associated with higher outcomes.ConclusionsSerum TSH levels assessed in the subacute post-ABI phase and its variation during neurorehabilitation could represent a potential biomarker of DoC evolution, while variations in fT4 levels seem to be associated with rehabilitation and cognitive functions. Further studies are needed to investigate the mechanisms underlying these associations.

Yanna Chi, Xinpei Wang, Jinzhu Jia et al.

ObjectiveThis study aimed to explore shared genetic etiology and the causality between smoking status and type 2 diabetes (T2D), cardiovascular diseases (CVDs), and related metabolic traits.MethodsUsing summary statistics from publicly available genome-wide association studies (GWASs), we estimated genetic correlations between smoking status and T2D, 6 major CVDs, and 8 related metabolic traits with linkage disequilibrium score regression (LDSC) analysis; identified shared genetic loci with large-scale genome-wide cross-trait meta-analysis; explored potential shared biological mechanisms with a series of post-GWAS analyses; and determined causality with Mendelian randomization (MR).ResultsWe found significant positive genetic associations with smoking status for T2D (Rg = 0.170, p = 9.39 × 10−22), coronary artery disease (CAD) (Rg = 0.234, p = 1.96 × 10−27), myocardial infarction (MI) (Rg = 0.226, p = 1.08 × 10−17), and heart failure (HF) (Rg = 0.276, p = 8.43 × 10−20). Cross-trait meta-analysis and transcriptome-wide association analysis of smoking status identified 210 loci (32 novel loci) and 354 gene–tissue pairs jointly associated with T2D, 63 loci (12 novel loci) and 37 gene–tissue pairs with CAD, 38 loci (6 novel loci) and 17 gene–tissue pairs with MI, and 28 loci (3 novel loci) and one gene–tissue pair with HF. The shared loci were enriched in the exo-/endocrine, cardiovascular, nervous, digestive, and genital systems. Furthermore, we observed that smoking status was causally related to a higher risk of T2D (β = 0.385, p = 3.31 × 10−3), CAD (β = 0.670, p = 7.86 × 10−11), MI (β = 0.725, p = 2.32 × 10−9), and HF (β = 0.520, p = 1.53 × 10−6).ConclusionsOur findings provide strong evidence on shared genetic etiology and causal associations between smoking status and T2D, CAD, MI, and HF, underscoring the potential shared biological mechanisms underlying the link between smoking and T2D and CVDs. This work opens up a new way of more effective and timely prevention of smoking-related T2D and CVDs.

Saud Alwatban, Saud Alwatban, Haifa Alfaraidi et al.

IntroductionDNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism.Case DescriptionWe report a case of homozygous DNAJC3 mutation in two siblings of a consanguineous family. A 3-year-old boy presented with short stature and a thyroid nodule. Laboratory findings confirmed hypothyroidism. Subsequently, levothyroxine was administered. Growth hormone (GH) stimulation test results were within the normal limits. His stature was exceedingly short (80.5 cm) (−3.79 SDS). The patient developed sensorineural hearing loss at age 6 years; his intellectual functioning was impaired. Recombinant Human Growth Hormine (rhGH) treatment was postponed until the age of 6.9 years due to a strong family history of diabetes. At age 9 years, he developed an ataxic gait. Brain magnetic resonance imaging (MRI) revealed neurodegeneration. The patient developed diabetes at the age of 11 years—5 years after the initiation of rhGH treatment. Tests for markers of autoimmune diabetes were negative. Lifestyle modification was introduced, but insulin therapy was eventually required. Whole-exome-sequencing (WES) revealed a homozygous DNAJC3 mutation, which explained his clinical presentation. MRI revealed a small, atrophic pancreas. At the age of 17, his final adult height was 143 cm (−4.7 SDS). His elder brother, who had the same mutation, had a similar history, except that he had milder ataxia and normal brain MRI finding at the age of 28 years.ConclusionWe propose that DNAJC3 mutation can be considered as a cause of maturity onset diabetes of the young. Patients with DNAJC3 mutations may possess a small atrophic pancreas.

Qiang Zeng, Lei Ou, Wei Wang et al.

The structurally-related peptides, gastrin and cholecystokinin (CCK), were originally discovered as humoral stimulants of gastric acid secretion and pancreatic enzyme release, respectively. With the aid of methodological advances in biochemistry, immunochemistry, and molecular biology in the past several decades, our concept of gastrin and CCK as simple gastrointestinal hormones has changed considerably. Extensive in vitro and in vivo studies have shown that gastrin and CCK play important roles in several cellular processes including maintenance of gastric mucosa and pancreatic islet integrity, neurogenesis, and neoplastic transformation. Indeed, gastrin and CCK, as well as their receptors, are expressed in a variety of tumor cell lines, animal models, and human samples, and might contribute to certain carcinogenesis. In this review, we will briefly introduce the gastrin and CCK system and highlight the effects of gastrin and CCK in the regulation of cell proliferation and apoptosis in both normal and abnormal conditions. The potential imaging and therapeutic use of these peptides and their derivatives are also summarized.

Melina Saban, Glenda Ernst, Maricel Recalde et al.

Introduction: the obstructive sleep apnea (OSA) is a pathology of high prevalence associated with overweight and obesity. The relationship between metabolic syndrome (MS) and OSA has not been reported in our environment. Materials and methods: retrospective study in adults selected for respiratory polygraphy and metabolic evaluation classified according to the presence of MS. Results: we included 302 patients. The prevalence of obesity was 66.88% and MS 62.58%. 19% had symptoms of daytime sleepiness and 48.3% showed 5 or more components of the STOP-BANG questionnaire. Patients with OSA were mostly male, older; body weight, waist and neck circumference compared to the group without OSA (57 vs 49 years, p<0.001; 93.89 vs 85kg, p<0.05; 108 vs. 100 cm, p<0.001 respectively). They showed higher values of triglycerides, systolic blood pressure, obesity and desaturation index (134 vs 99 mg/dl, p<0.001; 134 vs 128 mmHg, p<0.05; 69.2 vs. 52.3%, p<0.05 and 14.6 vs 2 ev/h, p<0.001 respectively). The amount of STOP-BANG components was higher in patients with OSA (5 vs 3; p<0.001). Conclusions: AOS and SM are frequently related and remain underdiagnosed. The use of validated questionnaires facilitates the identification of candidates for sleep studies. It is necessary to implement healthy habits management programs to prevent complications of both pathologies.

Heather C. M. Allaway, Madhusmita Misra, Emily A. Southmayd et al.

Purpose: Combined hormonal contraceptive therapy has been associated with negative bone mineral density outcomes that may be route-dependent [i.e., combined oral contraception (COC) vs. contraceptive vaginal ring (CVR)] and involve the hepatic growth hormone (GH)/insulin-like growth factor-I (IGF-I) axis. The objective of the pilot study was to assess the impact of route of contraceptive administration on IGF-I and procollagen type I N-terminal propeptide (PINP) responses to an IGF-I Generation Test. We hypothesized that the peak rise in IGF-I and PINP concentration and area under the curve (AUC) would be attenuated following COC, but not CVR, use.Methods: Healthy, premenopausal women not taking hormonal contraception were recruited. Women were enrolled in the control group (n = 8) or randomly assigned to COC (n = 8) or CVR (n = 8) for two contraceptive cycles. IGF-I Generation Tests were used as a probe to stimulate IGF-I release and were completed during the pre-intervention and intervention phases. Serum IGF-I and PINP were measured during both IGF-I Generation Tests. The study was registered at ClinicalTrials.gov (NCT02367833).Results: Compared to the pre-intervention phase, peak IGF-I concentration in response to the IGF-I Generation Test in the intervention phase was suppressed in the COC group (p &lt; 0.001), but not the CVR or Control groups (p &gt; 0.090). Additionally, compared to the pre-intervention phase, PINP AUC during the intervention phase was suppressed in both COC and CVR groups (p &lt; 0.001), while no difference was observed in the control group (p = 0.980).Conclusion: These data suggest that changes in recombinant human GH-stimulated hepatic IGF-I synthesis in response to combined hormonal contraception (CHC) use are dependent on route of CHC administration, while the influence on PINP is route-independent. Future research is needed to expand these results with larger randomized control trials in all age ranges of women who utilize hormonal contraception.Clinical Trial Registration:www.ClinicalTrials.gov registration NCT02367833.

Jie Zhang, Jie Zhang, Zhenrong Ma et al.

Objective: Studies suggest that matrix Gla protein (MGP) is associated with osteoporosis. However, the precise mechanism through which MGP regulates bone metabolism is not fully understood. The purpose of this study was to clarify the role of MGP in bone metabolism.Methods: The MGP gene in MG63 cell line was knocked down using shRNA. Cell Counting Kit-8 assay was used to detect the proliferation of MG63 cells. Moreover, the differentiation and mineralization of MG63 cells were measured through alkaline phosphatase staining and Alizarin Red S staining. Western blotting and quantitative reverse transcription-polymerase chain reaction were conducted to detect the protein and mRNA levels of components of the Wnt/β-catenin signaling pathway, such as Wnt3a, β-catenin, and Runx2. Transgenic (MGP+) mice were used to detect the effects of MGP in vivo.Results: The Cell Counting Kit-8 assay suggested that upregulated MGP could promote the proliferation of MG63 cells, whereas its downregulation inhibited proliferation. The alkaline phosphatase assay and Alizarin Red S staining showed that overexpressed MGP led to prominently upregulated differentiation and mineralization of MG63 cells. Conversely, knockdown of MGP decreased the levels of differentiation and mineralization. Western blotting and quantitative reverse transcription-polymerase chain reaction showed that overexpression of MGP upregulated Wnt3a, β-catenin, and Runx2. In contrast, knocking down MGP reduced their transcriptional levels. In vivo, overexpression of MGP inhibited the decrease in bone mineral density induced via ovariectomy in the femur, and significantly prevented bone volume fraction, trabecular number, BV/TV, and TbTh to decrease. In addition, it increased the levels of estradiol in sera.Conclusion: The findings of this study suggest that the promotion of osteoblast proliferation, differentiation, and mineralization by MGP may be a mechanism to prevent osteoporosis. Furthermore, the results show that MGP promoted the osteogenic effects via the Wnt/β-catenin signaling pathway.

Cresio Alves

Tiego A. Diniz, Fabricio E. Rossi, Loreana S. Silveira et al.

ABSTRACT Objectives To analyze the role of moderate-to-vigorous physical activity (MVPA) in mediating the relationship between central adiposity and immune and metabolic profile in postmenopausal women. Materials and methods Cross-sectional study comprising 49 postmenopausal women (aged 59.26 ± 8.32 years) without regular physical exercise practice. Body composition was measured by dual-energy X-ray absorptiometry. Fasting blood samples were collected for assessment of nonesterified fatty acids, tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), adiponectin, insulin and estimation of insulin resistance (HOMA-IR). Physical activity level was assessed with an accelerometer (Actigraph GTX3x) and reported as a percentage of time spent in sedentary behavior and MVPA. All analyses were performed using the software SPSS 17.0, with a significance level set at 5%. Results Sedentary women had a positive relationship between trunk fat and IL-6 (rho = 0.471; p = 0.020), and trunk fat and HOMA-IR (rho = 0.418; p = 0.042). Adiponectin and fat mass (%) were only positively correlated in physically active women (rho = 0.441; p = 0.027). Physically active women with normal trunk fat values presented a 14.7% lower chance of having increased HOMA-IR levels (β [95%CI] = 0.147 [0.027; 0.811]). Conclusions The practice of sufficient levels of MVPA was a protective factor against immunometabolic disorders in postmenopausal women.

G.V. Demidenko

The physiological and pathogenetic role of adipokine apelin, endogenous ligand of apelin (APJ or APLNR) receptors in the development of glucose metabolism disorders has been analyzed. Established correlations of apelin with components of carbohydrate metabolism confirm the effect on glucose metabolism manifestations. Ambiguous data about apelin level at insulin resistance syndrome, prediabetes, diabetes mellitus type 2, hypertension require further detailed study. The close association of apelin with development of diabetes mellitus type 2 and prediction of cardiovascular events in patients with metabolic syndrome has been found.