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European Journal of Endocrinology Jun 2024To assess whether clinical and imaging characteristics predict hormonal subtype, growth, and adrenalectomy for incidental adrenal cortical adenomas (ACA).
OBJECTIVE
To assess whether clinical and imaging characteristics predict hormonal subtype, growth, and adrenalectomy for incidental adrenal cortical adenomas (ACA).
DESIGN
Single center cohort study.
METHODS
Consecutive adult patients with incidental ACA diagnosed between 2000 and 2016.
RESULTS
Of 1516 patients with incidental ACA (median age 59 years, 62% women), 699 (46%) had nonfunctioning adenomas (NFA), 482 (31%) had mild autonomous cortisol secretion (MACS), 62 (4%) had primary aldosteronism (PA), 39 (3%) had Cushing syndrome (CS), 18 (1%) had PA and MACS (PA-MACS), and 226 (15%) had incomplete workup. Age, sex, tumor size, and tumor laterality, but not unenhanced computed tomography Hounsfield units (HU), were associated with hormonal subtypes. In a multivariable analysis, ≥1cm growth was associated with younger age (odds ratio per 5-year increase, OR=0.8, P=0.0047) and longer imaging follow-up (OR=1.2 per year, P<.0001). Adrenalectomy was performed in 355 (23%) patients, including 38% of MACS and 15% of NFA. Adrenalectomy for NFA and MACS was more common in younger patients (OR=0.79 per 5-year increase, P=0.002), larger initial tumor size (OR=2.3 per 1-cm increase, P<.0001), ≥1cm growth (OR=15.3, P<.0001), and higher post-dexamethasone cortisol (OR=6.6 for >5 vs <1.8 mcg/dL, P=0.002).
CONCLUSIONS
Age, sex, tumor size, and laterality were associated with ACA hormonal subtype and can guide diagnosis and management. Tumor growth was more common with younger age and longer follow-up. Unenhanced HU did not predict hormonal subtype or growth. Adrenalectomy for MACS and NFA was mainly performed in younger patients with larger tumor size, growth, and elevated post-dexamethasone cortisol.
PubMed: 38941271
DOI: 10.1093/ejendo/lvae078 -
European Journal of Endocrinology Jun 2024Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46, XY disorders caused by androgen receptor (AR) gene...
CONTEXT
Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46, XY disorders caused by androgen receptor (AR) gene variants. This large-sample study aimed to correlate the genotypes and phenotypes to the fertility of individuals.
METHODS
This was a cohort study that analyzed genetic and clinical characteristics of patients with AIS from a single center in China.
RESULTS
The 117 patients were divided into 53 with complete AIS (CAIS) and 64 with partial AIS (PAIS). At their first visit the median age was 1.83 years (0.92-4.17) and the EMS was 3.0 (2.0-6.0). At the last follow-up, 92% (49/53) of patients with CAIS maintained their female gender, and 94% (60/64) of patients with PAIS were raised as males. No gender anxiety was observed in this study. Eighty-eight AR variants were identified, with 31 (35%) being unreported. Moreover, 24% (21/88) occurred more than once. The variants that appeared most frequently were located at amino acid 841, including p.R841H(n=5) and p.R841C(n=2). Variants p.N706S, p.R856H, and p.A871V were each observed 4 times. In terms of inheritance, 83% of patients with parental verification inherited variants from their mothers. We also observed that the variants from one case were inherited from his maternal grandfather who had hypospadias.
CONCLUSION
Most children with PAIS were raised as males. The abundance of maternally inheritable variants and the presence of case of preserved fertility indicate the fertility potential in patients with AIS. Hence, we recommend a careful evaluation of gonadectomy when fertility preservation is being considered.
PubMed: 38938059
DOI: 10.1093/ejendo/lvae082 -
Thorax Jun 2024In adults and children with intellectual disability (ID), sleep -disordered breathing (SDB) is thought to be common. However, large epidemiological studies are lacking,... (Review)
Review
BACKGROUND
In adults and children with intellectual disability (ID), sleep -disordered breathing (SDB) is thought to be common. However, large epidemiological studies are lacking, and there are few studies on optimal methods of investigation and even fewer randomised, controlled intervention trials of treatment.
METHOD
Peer-reviewed publications from various databases were examined in line with search terms relevant to ID and SDB spanning the years 200-2024.
RESULTS
Findings suggest that, due to comorbid conditions, children and adults with ID may experience both an increased risk of SDB, as well as lower frequency of diagnosis. SDB can compromise the emotional, physical and mental health of individuals with ID. Appropriate treatment when tolerated leads to an improvement in health and well-being and several studies emphasized the importance of consistent follow-up of people with ID - something that is not universally occurring during childhood, in the transition to adulthood and during adulthood itself. As the most frequently occurring form of ID worldwide, we use Down syndrome as a specific example of how diagnosing and treating SDB can lead to improved outcomes.
CONCLUSIONS
This review highlights the importance of identifying SDB in this heterogenous population, recognising the multi-faceted, deleterious consequences of untreated SDB in people with ID, and presents some strategies that can be harnessed to improve diagnosis and management. Until further ID-specific research is available, we urge flexibility in the approach to people with ID and SDB based in guidelines and standard practice developed for the typically developing population.
PubMed: 38937106
DOI: 10.1136/thorax-2023-220032 -
Nutrients Jun 2024Irritable bowel syndrome (IBS) and vitamin D deficiency are common among children in Latin America. Previous studies show that improves IBS symptoms in adults. This...
Irritable bowel syndrome (IBS) and vitamin D deficiency are common among children in Latin America. Previous studies show that improves IBS symptoms in adults. This real-world, single-arm, open-label study conducted in Chile investigated the effects of 35624 (1 × 10 colony-forming units, 12 weeks) on gastrointestinal symptoms (adapted IBS severity scoring system [IBS-SSS]; adapted Questionnaire on Pediatric Gastrointestinal Symptoms [QPGS], and Bristol Stool Form Scale) in 64 children and adolescents (8-18 years) and explored the relationship with baseline vitamin D status. Improvements in all IBS-SSS domains and composite score were observed at week 6 and 12 ( < 0.0007 versus baseline), with 98.3% of participants experiencing numerical improvements in ≥3 domains. Clinically meaningful improvement was seen in 96.6% of participants. The distribution of IBS-SSS severity categories shifted from moderate/severe at baseline to mild/remission ( < 0.0001). Improvements were not maintained during the two-week washout. Low baseline serum vitamin D levels did not correlate to IBS severity or probiotic response. QPGS significantly decreased from baseline to week 6 ( = 0.0005) and 12 ( = 0.02). 35624 may improve IBS symptoms in children and adolescents, even those with vitamin D deficiency. A confirmatory randomized controlled trial and further exploration of probiotic response and vitamin D status are needed.
Topics: Humans; Irritable Bowel Syndrome; Adolescent; Child; Probiotics; Male; Female; Bifidobacterium longum; Chile; Treatment Outcome; Severity of Illness Index; Vitamin D; Vitamin D Deficiency
PubMed: 38931319
DOI: 10.3390/nu16121967 -
Nutrients Jun 2024Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age. Many women with PCOS have been found to have an unbalanced diet...
Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age. Many women with PCOS have been found to have an unbalanced diet and deficiencies in essential nutrients. This study aimed to assess the levels of folate and vitamin B12 (B12) and their relationship with metabolic factors in women with PCOS. Anthropometric, clinical, and genetic analyses were conducted to evaluate markers related to one-carbon metabolism in women with PCOS and in a control group. The PCOS group had a higher BMI and HOMA-IR (1.7 vs. 3.1; < 0.0001). HDL cholesterol levels were 23% lower and triglyceride levels were 74% higher in women with PCOS. Although there were no significant differences in folate and B12 levels between the PCOS and control groups, over 60% of women with PCOS had low B12 levels (<300 pg/mL) and high homocysteine levels. In addition, the MTHFR A1298C and C677T polymorphisms were not associated with PCOS. Moreover, erythrocyte folate levels were positively correlated with fasting glucose, triglycerides, and free androgen index, and negatively correlated with SHBG and LH levels. These results suggest that B vitamins may be associated with the metabolic phenotype in PCOS. This study emphasizes the potential link between folate, vitamin B12, and metabolic and hormonal outcomes in women with PCOS.
Topics: Humans; Female; Polycystic Ovary Syndrome; Vitamin B 12; Folic Acid; Adult; Chile; Young Adult; Triglycerides; Homocysteine; Body Mass Index; Blood Glucose; Methylenetetrahydrofolate Reductase (NADPH2); Insulin Resistance; Cholesterol, HDL; Case-Control Studies; Biomarkers
PubMed: 38931291
DOI: 10.3390/nu16121937 -
Brain Sciences May 2024A growing body of literature suggests a link between bowel syndromes (e.g., irritable bowel syndrome and inflammatory bowel disease), gut microbiome alterations, and... (Review)
Review
A growing body of literature suggests a link between bowel syndromes (e.g., irritable bowel syndrome and inflammatory bowel disease), gut microbiome alterations, and psychiatric disorders. This narrative review aims to explore the potential role of the gut microbiome in the pathogenesis and clinical presentation of obsessive-compulsive disorder (OCD) and to explore whether there is sufficient evidence to warrant considering gastrointestinal symptoms and their implication for the gut microbiome during the assessment and treatment of OCD. For this purpose, a PubMed search of studies focusing on OCD, gut microbiota, irritable bowel syndrome, and inflammatory bowel disease was conducted by two independent reviewers. While the current literature on gut microbiome and gastrointestinal issues in OCD remains limited, emerging evidence suggests gut microbiome alterations and high rates of bowel syndromes in this population. These findings emphasize the importance of incorporating comprehensive gastrointestinal assessments into the "global assessment of OCD". Such assessment should encompass various factors, including gastrointestinal physical comorbidities and symptoms, nutritional habits, bowel habits, fluid intake, exercise patterns, and potential microbiome dysfunctions and inflammation. Considering the treatment implications, interventions targeting gut health, such as probiotics and dietary modifications, may hold promise in improving symptoms in OCD patients with comorbid gastrointestinal problems. Further research in this area is warranted to better understand the interplay between gut health and OCD and to explore the effectiveness of targeted interventions in improving clinical outcomes.
PubMed: 38928539
DOI: 10.3390/brainsci14060539 -
Biomedicines May 2024Aortic dissection (AD) is a life-threatening acute aortic syndrome. There are limitations and challenges in the discovery and application of biomarkers and drug targets...
Aortic dissection (AD) is a life-threatening acute aortic syndrome. There are limitations and challenges in the discovery and application of biomarkers and drug targets for AD. Mendelian randomization (MR) analysis is a reliable analytical method to identify effective therapeutic targets. We aimed to identify novel therapeutic targets for AD and investigate their potential side-effects based on MR analysis. Data from protein quantitative trait loci (pQTLs) were used for MR analyses to identify potential therapeutic targets. We probed druggable proteins involved in the pathogenesis of aortic dissection from deCODE. In this study, a two-sample MR analysis was conducted, with druggable proteins as the exposure factor and data on genome-wide association studies (GWAS) of AD as the outcome. After conducting a two-sample MR, summary data-based Mendelian randomization (SMR) analysis and colocalization analysis were performed. A protein-protein interaction (PPI) network was also constructed to delve into the interactions between identified proteins. After MR analysis and the Steiger test, we identified five proteins as potential therapeutic targets for AD. SMR analysis and colocalization analysis also confirmed our findings. Finally, we identified ASPN (OR = 1.36, 95% CI: 1.20, 1.54, = 4.22 × 10) and SPOCK2 (OR = 0.57, 95% CI: 0.41, 0.78, = 4.52 × 10) as the core therapeutic targets. Through PPI network analysis, we identified six druggable targets, enabling the subsequent identification of six promising drugs from DrugBank for treating AD. This discovery of specific proteins as novel therapeutic targets represents a significant advancement in AD treatment. These findings provide more effective treatment options for AD.
PubMed: 38927411
DOI: 10.3390/biomedicines12061204 -
World Journal of Emergency Surgery :... Jun 2024Monitoring Intraabdominal Pressure (IAP) is essential in critical care, as elevated IAP can lead to severe complications, including Abdominal Compartment Syndrome (ACS)....
BACKGROUND
Monitoring Intraabdominal Pressure (IAP) is essential in critical care, as elevated IAP can lead to severe complications, including Abdominal Compartment Syndrome (ACS). Advances in technology, such as digital capsules, have opened new avenues for measuring IAP non-invasively. This study assesses the feasibility and effectiveness of using a capsular device for IAP measurement in an animal model.
METHOD
In our controlled experiment, we anesthetized pigs and simulated elevated IAP conditions by infusing CO2 into the peritoneal cavity. We compared IAP measurements obtained from three different methods: an intravesical catheter (IAP), a capsular device (IAP), and a direct peritoneal catheter (IAP). The data from these methods were analyzed to evaluate agreement and accuracy.
RESULTS
The capsular sensor (IAP) provided continuous and accurate detection of IAP over 144 h, with a total of 53,065,487 measurement triplets recorded. The correlation coefficient (R²) between IAP and IAP was excellent at 0.9241, demonstrating high agreement. Similarly, IAP and IAP showed strong correlation with an R² of 0.9168.
CONCLUSION
The use of capsular sensors for continuous and accurate assessment of IAP marks a significant advancement in the field of critical care monitoring. The high correlation between measurements from different locations and methods underscores the potential of capsular devices to transform clinical practices by providing reliable, non-invasive IAP monitoring.
Topics: Animals; Swine; Intra-Abdominal Hypertension; Feasibility Studies; Monitoring, Physiologic; Pressure; Abdominal Cavity; Reproducibility of Results; Disease Models, Animal
PubMed: 38926694
DOI: 10.1186/s13017-024-00553-8 -
BMC Pediatrics Jun 2024Guillain‒Barre syndrome (GBS) is an acute inflammatory peripheral neuropathy caused by autoimmunity. Gangliosides and sulfatides are important components of peripheral...
BACKGROUND
Guillain‒Barre syndrome (GBS) is an acute inflammatory peripheral neuropathy caused by autoimmunity. Gangliosides and sulfatides are important components of peripheral nerves. Anti-sulfatide antibody-mediated complement is associated with acute sensorimotor peripheral neuropathy in GBS, which is characterized by pain and paresthesias.
CASE PRESENTATION
The child was a 7-year-old girl with headache and abdominal pain, followed by limb numbness and pain. Cranial imaging showed ventricular dilatation, peripheral nerve function conduction examination showed polyradiculopathy, and cerebrospinal fluid tests showed normal cell counts but elevated protein levels, all of which led to the diagnosis of GBS. After treatment with intravenous immunoglobulin (400 mg/kg × 5 days), the symptoms did not improve, and muscle strength progressively worsened, accompanied by paroxysmal complexion flushing, heart rate fluctuation, hyperhidrosis, and a progressive increase in cerebrospinal fluid protein (up to 3780.1 mg/L). On the basis of these findings combined with serum anti-sulfatide IgM positivity, anti-sulfatide antibody-related GBS was considered, and treatment with low-dose prednisolone (1 mg/kg/d) led to symptom improvement.
CONCLUSIONS
Anti-sulfatide antibody-associated GBS is associated with small fiber peripheral neuropathy. The main manifestations are pain, paresthesias and autonomic dysfunction. In addition to the dysfunction of spinal nerve root absorption caused by increased cerebrospinal fluid protein, autonomic dysfunction may be involved in pain. When the therapeutic effect of immunoglobulin is not satisfactory, a low dose and short course of corticosteroids can be considered, and the prognosis is good.
Topics: Humans; Female; Child; Guillain-Barre Syndrome; Abdominal Pain; Headache; Sulfoglycosphingolipids; Autoantibodies; Prednisolone
PubMed: 38926645
DOI: 10.1186/s12887-023-04287-5 -
BMC Pediatrics Jun 2024Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin... (Review)
Review
BACKGROUND
Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system. However, serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns either. The featured imaging manifestations play an important role in diagnosing Menkes disease. To our knowledge, there are few reports on the systemic imaging manifestations of Menkes disease.
CASE PRESENTATION
A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient's hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital.
CONCLUSION
A comprehensive and intuitive understanding of the disease's imaging manifestations can help clinicians to identify the disease and avoid delays in care.
Topics: Humans; Menkes Kinky Hair Syndrome; Male; Infant; Magnetic Resonance Imaging; Brain; Whole Body Imaging; Bone and Bones
PubMed: 38926644
DOI: 10.1186/s12887-024-04885-x