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1.
Gastroenterol. hepatol. (Ed. impr.) ; 47(2): 149-157, feb. 2024. tab
Article Es | IBECS | ID: ibc-230518

Objetivos La incidencia de la esofagitis eosinofílica (EEo) está aumentando en algunas regiones del mundo. Estudios retrospectivos han encontrado asociación inversa con la infección por Helicobacter pylori (H. pylori). Un estudio prospectivo reciente ha cuestionado esta relación. Por lo que buscamos evaluar esta relación en pacientes mexicanos. Pacientes y métodos Evaluamos pacientes adultos sin erradicación previa de la infección por H. pylori. Los casos se definieron por la presencia de síntomas esofágicos y > 15 eosinófilos/campo de alto poder (CAP) en biopsias de esófago. Los controles, por la presencia de < 15 eosinófilos/CAP. La infección por H. pylori se estableció por histología. Los pacientes fueron pareados por edad y género, asignando cuatro controles por caso. Resultados Se incluyeron 190 pacientes: 38 casos y 152 controles. Los casos tuvieron mayor frecuencia de atopia, disfagia, impactación alimentaria, eosinofilia periférica y anormalidades endoscópicas de EEo. La prevalencia de la infección por H. pylori fue de 63,6%. Los casos tuvieron prevalencia significativamente menor que los controles (36,8 vs. 70,4%, odds ratio (OR) 0,21, intervalo de confianza (IC) 95% 0,08-0,69, p = 0,001). Los pacientes atópicos tuvieron menor prevalencia en comparación con aquellos sin atopia: 13,1 vs. 50,5% (OR 0,20, IC 95% 0,06-0,69, p < 0,001), particularmente con rinitis alérgica y alergia alimentaria. Conclusiones Observamos una relación inversa entre la infección por H. pylori y EEo así como con atopia. Se necesitan estudios en modelos experimentales de EEo que clarifiquen el papel del H. pylori en esta interacción, así como estudios robustos que incluyan otros factores que puedan influir en esta relación (socioeconómicos, culturales, microbiota, etc.) (AU)


Background The incidence of eosinophilic esophagitis (EoE) is increasing in some regions of the world. Retrospective studies have found an inverse association with Helicobacter pylori infection (H. pylori). A recent prospective study has questioned this relationship. We aimed to evaluate this relationship in Mexican patients. Patients and methods We evaluated adult patients without prior eradication of H. pylori. Cases were defined by the presence of esophageal symptoms and >15 eosinophils/high power field (HPF) in the esophageal biopsy. Controls were defined by the presence of <15 eosinophils/HPF in esophageal biopsy. H. pylori infection was defined by histology. Patients were matched by age and gender assigning four controls per case. Results We included 190 patients: 38 cases and 152 controls. Cases had higher frequency of atopy, dysphagia, food impaction, peripheral eosinophilia, and endoscopic EoE abnormalities. The overall prevalence of H. pylori was 63.6%. Cases had significantly lower prevalence of H. pylori than controls (36.8% vs. 70.4%, OR 0.21 95% CI 0.08–0.69, p = 0.001). Atopic patients had lower prevalence of H. pylori than non-atopic: 13.1% vs. 50.5% (OR 0.20, 95% CI 0.06–0.69, p < 0.001), particularly allergic rhinitis and food allergy. Conclusions We observed an inverse relationship between H. pylori and EoE as well as atopy. Studies in experimental models of EoE that clarify the role of H. pylori in this interaction are required, as well as robust studies that include other factors (socioeconomic, cultural, microbiota, etc.) in order to clarify this relationship (AU)


Humans , Male , Female , Adolescent , Young Adult , Adult , Middle Aged , Aged , Eosinophilic Esophagitis/microbiology , Eosinophilic Esophagitis/diagnosis , Helicobacter Infections/complications , Helicobacter Infections/diagnosis , Helicobacter Infections/epidemiology , Eosinophilic Esophagitis/epidemiology , Retrospective Studies , Gastritis , Incidence , Mexico/epidemiology
2.
Gastroenterol Hepatol ; 47(2): 149-157, 2024 Feb.
Article En, Es | MEDLINE | ID: mdl-36963464

BACKGROUND: The incidence of eosinophilic esophagitis (EoE) is increasing in some regions of the world. Retrospective studies have found an inverse association with Helicobacter pylori infection (H. pylori). A recent prospective study has questioned this relationship. We aimed to evaluate this relationship in Mexican patients. PATIENTS AND METHODS: We evaluated adult patients without prior eradication of H. pylori. Cases were defined by the presence of esophageal symptoms and >15 eosinophils/high power field (HPF) in the esophageal biopsy. Controls were defined by the presence of <15 eosinophils/HPF in esophageal biopsy. H. pylori infection was defined by histology. Patients were matched by age and gender assigning four controls per case. RESULTS: We included 190 patients: 38 cases and 152 controls. Cases had higher frequency of atopy, dysphagia, food impaction, peripheral eosinophilia, and endoscopic EoE abnormalities. The overall prevalence of H. pylori was 63.6%. Cases had significantly lower prevalence of H. pylori than controls (36.8% vs. 70.4%, OR 0.21 95% CI 0.08-0.69, p = 0.001). Atopic patients had lower prevalence of H. pylori than non-atopic: 13.1% vs. 50.5% (OR 0.20, 95% CI 0.06-0.69, p < 0.001), particularly allergic rhinitis and food allergy. CONCLUSIONS: We observed an inverse relationship between H. pylori and EoE as well as atopy. Studies in experimental models of EoE that clarify the role of H. pylori in this interaction are required, as well as robust studies that include other factors (socioeconomic, cultural, microbiota, etc.) in order to clarify this relationship.


Enteritis , Eosinophilia , Eosinophilic Esophagitis , Gastritis , Helicobacter Infections , Helicobacter pylori , Hypersensitivity, Immediate , Adult , Humans , Eosinophilic Esophagitis/complications , Eosinophilic Esophagitis/epidemiology , Eosinophilic Esophagitis/diagnosis , Retrospective Studies , Helicobacter Infections/complications , Helicobacter Infections/epidemiology , Helicobacter Infections/diagnosis , Hypersensitivity, Immediate/complications
3.
Surg Obes Relat Dis ; 20(2): 202-212, 2024 Feb.
Article En | MEDLINE | ID: mdl-37845131

Type 2 diabetes (T2D) is a chronic metabolic disorder that affects millions of individuals associated with an increased risk of mortality and macrovascular complications. We aimed to synthesize the benefit of metabolic surgery (MS) on macrovascular outcomes in adult patients with T2D.We included both cohort studies and randomized controlled trials (RCTs) that evaluated MS added to medical therapy compared with medical therapy alone in the treatment of adult patients with T2D. Studies must have evaluated the incidence of any macrovascular complication of the disease for a period of at least 6 months. We performed our search using PubMed, Scopus, EMBASE, Web of Science, and COCHRANE Central database which was performed from inception date until March 2022. The trial protocol was previously registered at PROSPERO (CRD42021243739). A total of 6338 references were screened throughout the selection process from which 16 studies involving 179,246 participants fulfilled inclusion criteria. MS reduced the risk of any cardiovascular event by 44% (relative risk .56 [95% CI, .42-.75]; P = < .001), myocardial infarction by 54% (.46 [95% CI, .26-.83]; P = .009), coronary artery disease by 40% (.60 [95% CI, .42-.85]; P = .004) and heart failure by 71% (.29 [95% CI, .14-.61]; P = .001). It also provided a risk reduction of stroke by 29% (.71 [95% CI, .51-.99]; P = .04) and 38% (.62 [95% CI, .46-.85]; P = .001) for cerebrovascular events. On mortality, MS yields a risk reduction of 55% (.45 [95% CI, .36-.57]; P <.001) in overall mortality and 69% in cardiovascular mortality (relative risk .31 [95% CI, .22-.42]; P < .001). Peripheral vascular disease risk was also reduced. MS in adult patients with T2D can reduce the risk of mortality and of any macrovascular outcomes. However, there is a need for the planning of randomized clinical trials to further analyze and confirm the results.


Bariatric Surgery , Diabetes Mellitus, Type 2 , Myocardial Infarction , Adult , Humans , Cohort Studies , Myocardial Infarction/complications , Myocardial Infarction/prevention & control
4.
Hum Vaccin Immunother ; 19(3): 2271760, 2023 12 15.
Article En | MEDLINE | ID: mdl-37936434

The bacille Calmette-Guérin (BCG) vaccine is administered in many countries as part of their vaccination schedules. Epidemiologic studies have suggested a possible benefit of this vaccine in the context of the COVID-19 pandemic and other respiratory infections. We aimed to assess the safety of this intervention in BCG-primed adults. Adult health care workers (n = 451) received a single intradermal application of the BCG vaccine (Tokyo 172 strain) in the deltoid region of the right arm. Follow-up (30 days) calls and clinical inspections were guided using a standardized data sheet to assess local and systemic reactions. Early local reactions were common at 24 h and 7 days, such as erythema (74.9%, 69.2%), induration (55.7%, 59%), a papule (53.4%, 47.7%), and edema (48.3%, 38.1). Local symptoms (pruritus 44.8%, heat 16.2%, and pain 34.8%) were less frequent at day 7. Late expected reactions (14 and 30 days) included the formation of crusts (39.6% and 63.9%), a pustule (36.6% and 17%), or ulcers (28.8% and 17.7%). Severe reactions were limited to subcutaneous abscesses (2%) and lymphadenitis (<1%).


COVID-19 , Exanthema , Adult , Humans , Immunization, Secondary , COVID-19/prevention & control , BCG Vaccine , Pandemics/prevention & control
5.
Int J Clin Pract ; 2023: 9928582, 2023.
Article En | MEDLINE | ID: mdl-37876724

Aim: To evaluate retinal vascular perfusion and density by optical coherence tomography angiography (OCTA) before, during, and after hypoglycemia in individuals with diabetes mellitus with or without diabetic retinopathy (DR). Methods: A focused clinical history was performed, followed by an ophthalmological examination to document retinopathy status. OCTA was performed at baseline, at hypoglycemia, and at glucose normalization. Eye tracking and eye alignment devices on the platform were used to obtain a macular thickness cube (512 × 128) and vascular perfusion and density protocols of 3 × 3 mm. Retinal vascular reactivity was analyzed with superficial plexus vascular perfusion and density protocols on OCTA. Results: Fifty-two participants encompassing 97 eyes fulfilled the eligibility criteria. Their mean age was 42.9 ± 15.1 years (range, 22 to 65), and 20 (38.2%) were men. We found a statistically significant difference in vascular perfusion and density when comparing all groups at baseline. The controls had higher vascular perfusion and density values than the cases. Vascular perfusion and density were significantly reduced in all groups during the hypoglycemia episode, except for vascular density in DR cases. Conclusion: Acute hypoglycemia significantly alters the retinal vascularity in DM patients with and without DR, suggesting that repeated episodes of acute hypoglycemia could exacerbate retinopathy in the long term.


Diabetic Retinopathy , Hypoglycemia , Insulins , Male , Humans , Adult , Middle Aged , Female , Microvascular Density , Retinal Vessels/diagnostic imaging , Fluorescein Angiography/methods , Diabetic Retinopathy/diagnosis , Perfusion , Hypoglycemia/chemically induced
6.
World J Gastroenterol ; 29(28): 4405-4415, 2023 Jul 28.
Article En | MEDLINE | ID: mdl-37576704

Post-acute pancreatitis diabetes (PAPD) is the second most common type of diabetes below type 2 diabetes mellitus. Due to the boom in research on this entity carried out during the last decade, its recognition has increased. However, much of the medical community still does not recognize it as a medium and long-term complication of acute pancreatitis (AP). Recent prospective cohort studies show that its incidence is about 23% globally and 34.5% in patients with severe AP. With the overall increase in the incidence of AP this complication will be certainly seen more frequently. Due to its high morbidity, mortality and difficult control, early detection and treatment are essential. However, its risk factors and pathophysiological mechanisms are not clearly defined. Its diagnosis should be made excluding pre-existing diabetes and applying the criteria of the American Diabetes Association after 90 d of resolution of one or more AP episodes. This review will show the evidence published so far on the incidence and prevalence, risk factors, possible pathophysiological mechanisms, clinical outcomes, clinical characteristics and preventive and corrective management of PAPD. Some important gaps needing to be clarified in forthcoming studies will also be discussed.


Diabetes Mellitus, Type 2 , Pancreatitis , Humans , Pancreatitis/complications , Pancreatitis/diagnosis , Pancreatitis/epidemiology , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/epidemiology , Acute Disease , Risk Factors
7.
Surg Obes Relat Dis ; 19(8): 916-927, 2023 08.
Article En | MEDLINE | ID: mdl-37169666

BACKGROUND: Microvascular diabetes complications impair patients' health-related quality of life. Bariatric surgery (BS) emerged as a compelling treatment that demonstrated to have beneficial effects on patients with diabetes and obesity. OBJECTIVE: We aimed to synthesize the benefit of bariatric surgery on microvascular outcomes in adult patients with type 2 diabetes. SETTING: 2011-2021. METHODS: We included both cohort studies and randomized trials that evaluated bariatric surgery added to medical therapy compared with medical therapy alone in the treatment of adult patients with type 2 diabetes. Studies must have evaluated the incidence of any microvascular complication of the disease for a period of at least 6 months. We performed our search using PubMed, Scopus, EMBASE, Web of Science, and COCHRANE Central database which was performed from inception date until March 2021. PROSPERO (CRD42021243739). RESULTS: A total of 25 studies (160,072 participants) were included. Pooled analysis revealed bariatric surgery to reduce the incidence of any stage of retinopathy by 71% (odds ratio [OR] .29; 95% confidence interval [CI] .10-.91), nephropathy incidence by 59% (OR .41; 95% CI 17-96), and hemodialysis/end-stage renal disease by 69% (OR .31 95% CI .20-.48). Neuropathy incidence revealed no difference between groups (OR .11; 95% CI .01-1.37). Bariatric surgery increased the odds of albuminuria regression by 15.15 (95% CI 5.96-38.52); higher odds of retinopathy regression were not observed (OR 3.73; 95% CI .29-47.71). There were no statistically significant differences between groups regarding the change in surrogate outcomes. CONCLUSIONS: Bariatric surgery in adult patients with diabetes reduced the odds of any stage of retinopathy, hemodialysis/end-stage renal disease, and nephropathy composite outcome. However, its effect on many individual outcomes, both surrogates, and clinically significant, remains uncertain.


Bariatric Surgery , Diabetes Mellitus, Type 2 , Kidney Failure, Chronic , Retinal Diseases , Adult , Humans , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/surgery , Quality of Life
8.
Endocrine ; 81(2): 231-245, 2023 08.
Article En | MEDLINE | ID: mdl-37247046

PURPOSE: This systematic review aimed to evaluate the benefits and harms of fibrate therapy, alone or in combination with statins, in adult patients with type 2 diabetes (T2D). METHODS: A comprehensive search was conducted in six databases, from inception to January 27, 2022. Clinical trials that compared fibrate therapy with other lipid-lowering interventions or placebo were included. Outcomes of interest comprised cardiovascular (CV) events, complications of T2D, metabolic profile, and adverse events. Random-effects meta-analyses were performed to estimate mean differences (MD) and risk ratios (RR), alongside 95% confidence intervals (CI). RESULTS: A total of 25 studies were included, six comparing fibrates against statins, 11 against placebo, and eight evaluating the combination of fibrates with statins. Overall risk of bias was rated as moderate, and most outcomes rendered low confidence per GRADE approach. Fibrates showed reduction of serum triglycerides (TGs) (MD -17.81, CI -33.92 to -1.69) and a marginal increase of high-density lipoprotein cholesterol (HDL-c) (MD: 1.60, CI 0.29 to 2.90) in adults with T2D, but no differences were found in CV events when compared to statin therapy (RR 0.99, CI 0.76 to 1.09). When used in combination with statins, no major differences were exhibited regarding lipid profile and CV outcomes. Adverse events were comparable between fibrate and statin monotherapies (e.g., RR of 1.03 for rhabdomyolysis, and 0.90 for gastrointestinal events). CONCLUSIONS: Fibrate therapy in patients with T2D results in a marginal improvement of TGs and HDL-c but without reducing the risk of CV events and mortality. Their use should be reserved for very specific scenarios after a deliberative dialogue between patients and clinicians regarding their benefits and harms.


Cardiovascular Diseases , Diabetes Mellitus, Type 2 , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Adult , Humans , Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects , Fibric Acids/adverse effects , Diabetes Mellitus, Type 2/drug therapy , Cholesterol, HDL , Triglycerides , Cardiovascular Diseases/etiology , Cardiovascular Diseases/prevention & control
9.
BMC Public Health ; 23(1): 922, 2023 05 19.
Article En | MEDLINE | ID: mdl-37208632

BACKGROUND: During the COVID-19 pandemic, face-to-face delivery of education in schools across Wales was disrupted with repeated school closures to limit risk of infection. Evidence describing the incidence of infection amongst school staff during times when schools were open is limited. A previous research study found infection rates were higher in English primary school settings when compared with secondary. An Italian study suggested teachers weren't at greater risk of infection in comparison to the general population. The aim of this study was to identify whether educational staff had higher incidence rates than their counterparts in the general population in Wales, and secondly whether incidence rates amongst staff differed between primary and secondary school settings and by teacher age. METHODS: We performed a retrospective observational cohort study using the national case detection and contact tracing system implemented during the COVID pandemic. Age stratified person-day COVID-19 incidence rates amongst teaching staff linked to primary or secondary schools in Wales were calculated for the autumn and summer terms during 2020-2021. RESULTS: The observed pooled COVID-19 incidence rates for staff across both terms was 23.30 per 100,000 person days (95% CI: 22.31-24.33). By comparison, the rate in the general population aged 19-65, was 21.68 per 100,000 person days (95%: CI 21.53-21.84). Incidence among teaching staff was highest in the two youngest age groups (< 25 years and 25-29 years). When compared to the age matched general population, incidence was higher in the autumn term amongst primary school teachers aged ≤ 39 years, and in the summer term higher only in the primary school teachers aged < 25 years. CONCLUSION: The data were consistent with an elevated risk of COVID-19 amongst younger teaching staff in primary schools when compared to the general population, however differences in case ascertainment couldn't be excluded as a possible reason for this. Rate differences by age group in teaching staff mirrored those in the general population. The risk in older teachers (≥ 50 years) in both settings was the same or lower than in the general population. Amongst all age groups of teachers maintaining the key risk mitigations within periods of COVID transmission remain important.


COVID-19 , SARS-CoV-2 , Humans , Aged , Incidence , Pandemics , Retrospective Studies , COVID-19/epidemiology , Schools
10.
Rev Esp Enferm Dig ; 115(5): 283-284, 2023 05.
Article En | MEDLINE | ID: mdl-36719344

Pyogenic granuloma is a benign vascular lesion that is most frequently found in the epidermis or mucosa of the oral cavity. Its finding in the ileum is rare, there are only a few case reports. In most reported cases, diagnosis is made with capsule endoscopy or double-balloon enteroscopy. We present a case of a lesion in the ileum, approximately 15 cm from the ileocecal valve, documented by colonoscopy.


Granuloma, Pyogenic , Ileocecal Valve , Humans , Ileocecal Valve/diagnostic imaging , Granuloma, Pyogenic/diagnostic imaging , Colonoscopy , Ileum/diagnostic imaging , Ileum/pathology , Intubation, Intratracheal
11.
Rev Esp Enferm Dig ; 115(3): 149, 2023 03.
Article En | MEDLINE | ID: mdl-35899703

The major function of platelets is to contribute to hemostasis. If an impairment in their production and/or function occurs, abnormal bleeding can develop. An 18-year-old male presented to our hospital after four episodes of hematemesis. His medical history was relevant for Glanzmann thrombasthenia diagnosed during early childhood. On initial examination, he appeared pale and with normal blood pressure. His complete blood count included a hemoglobin concentration of 11.0 g/dL, additional laboratory tests were within the normal ranges. The initial approach consisted of a high dose of proton pump inhibitors. Hours later, esophagogastroduodenoscopy revealed diffuse oozing bleeding from gastric mucosa with no other visible lesions such as peptic ulcers or varices.


Peptic Ulcer , Thrombasthenia , Male , Humans , Child, Preschool , Adolescent , Thrombasthenia/complications , Thrombasthenia/diagnosis , Gastrointestinal Hemorrhage/etiology , Gastrointestinal Hemorrhage/diagnosis , Hematemesis/etiology , Acute Disease
12.
Rev Esp Enferm Dig ; 115(1): 52-53, 2023 01.
Article En | MEDLINE | ID: mdl-35748465

Primary pancreatic lymphoma is one of the rare primary pancreatic tumors with a low incidence compared to adenocarcinoma, which is the most frequent. Currently there are diagnostic tools such as percutaneous biopsy and endoscopic ultrasound to reach its diagnosis. Primary lymphoma of the pancreas has defined therapeutic targets as well as a better prognosis compared to other tumors.


Adenocarcinoma , Lymphoma , Pancreatic Neoplasms , Humans , Pancreatic Neoplasms/pathology , Adenocarcinoma/diagnostic imaging , Adenocarcinoma/pathology , Lymphoma/diagnostic imaging , Pancreas/pathology , Pancreatic Neoplasms
13.
Rev Esp Enferm Dig ; 115(4): 192-193, 2023 04.
Article En | MEDLINE | ID: mdl-35469416

A 61-year-old man with a history of progressive dysphagia in the last three years and current COVID-19 diagnosis, presented to our emergency department with sudden dyspnea and loss of consciousness. Initial examination revealed a respiratory rate of 30 bpm with an oxygen saturation of 94% with room air. A venous blood gas exam showed acute hypercapnic respiratory failure; therefore, he was intubated and admitted to the medical intensive care unit.


COVID-19 , Esophageal Achalasia , Respiratory Insufficiency , Male , Humans , Middle Aged , COVID-19/complications , COVID-19 Testing , Respiratory Insufficiency/etiology , Respiratory Insufficiency/diagnosis , Hospitalization
14.
J Eur Acad Dermatol Venereol ; 37(2): 340-347, 2023 Feb.
Article En | MEDLINE | ID: mdl-36184894

BACKGROUND: Psoriasis is strongly associated with insulin resistance (IR). Lipid profile disturbances and upregulation of enzymes crucial for fatty acid oxidation have been reported in patients with psoriasis. Mitochondrial ß-oxidation is altered in patients with IR. Common mitochondrial dysfunction may be involved in the origin of both diseases. OBJECTIVE: This study aimed to evaluate mitochondrial ß-oxidation, intermediary metabolism, and mitochondrial content in psoriatic patients with or without IR and compare them to healthy controls. METHODS: The participants were divided into three groups: (1) psoriasis and IR (n = 26); (2) psoriasis without IR (n = 17); and (3) healthy controls (n = 17). Quantification of amino acids and acylcarnitines (AC) by tandem mass spectrometry, determination of urinary organic acids by gas chromatography/mass spectrometry (GC/MS), and mitochondrial DNA quantification were performed in all groups. RESULTS: When comparisons were made between the two psoriatic groups, no differences were found between: C5DC + C6OH, C16:1, Met/Leu, Met/Phe, C16:1/C16, and C5DC + C6OH/C4DC + C5OH ratios. Nine analytes were different: phenylalanine, Cit/Phe, and Cit/Tyr ratios, C0, C3, C5, C6DC, C16, and C18:1OH. There were no correlations between psoriasis area and severity index (PASI), body mass index (BMI) and duration of disease with ACs. A higher proportion of patients with psoriasis showed increased urine levels of uric acid and hippuric acid (p = 0.01). The mtDNA content was significantly higher in cases than in controls, with no differences between IR and non-IR psoriatic patients. CONCLUSIONS: Psoriasis patients with and without IR have a different acylcarnitine profile reflecting impaired ß-oxidation. A distinctive profile of acylcarnitines suggests an involvement of mitochondrial function associated with an increase in stearoyl CoA desaturase (SCD) activity in psoriatic patients with and without IR.


Insulin Resistance , Psoriasis , Humans , Amino Acids , Mitochondria
18.
Cureus ; 15(12): e50367, 2023 Dec.
Article En | MEDLINE | ID: mdl-38213379

This case report presents a detailed exploration of an adult-onset 22q11 deletion syndrome, a rare genetic disorder typically diagnosed in children. The report highlights the diagnostic challenges posed by this atypical presentation, emphasizing the need for clinicians to consider such conditions in differential diagnoses, especially in adults. This case is remarkable for its late onset and mild symptoms, which significantly deviated from the common pediatric presentation, including hypocalcemia due to hypoparathyroidism and a fenestrated atrial septal defect without significant hemodynamic implications. The importance of recognizing the broad phenotypic variability of the syndrome and the implications for clinical practice are discussed, providing insights into the genetic and phenotypic diversity of the condition. In conclusion, this case illuminates the diverse clinical spectrum of adult-onset 22q11 deletion syndrome, emphasizing its relevance to clinical practice.

20.
Int J Endocrinol ; 2022: 7860272, 2022.
Article En | MEDLINE | ID: mdl-36457351

Background: The short cosyntropin test is widely used for adrenal insufficiency screening and diagnosis. Lower cosyntropin doses may have greater sensitivity vs. the standard dose in detecting adrenal dysfunction. Obesity and overweight are increasing, impacting the clinical presentation of some diseases. Currently more than 50% of the subjects diagnosed with autoimmune adrenal insufficiency have a BMI greater than 25, and hence individuals living with overweight and obesity are more frequently requiring evaluation of the adrenal cortical function. Fixed-dose cosyntropin stimulation may not be appropriate for individuals with obesity. Objective: The primary objective was to compare cortisol response to a weight-adapted cosyntropin dose vs. a fixed low dose (1 µg) and a more physiologically fixed dose (10 µg). Methods: Twenty individuals with obesity and 20 age-matched healthy controls underwent in a randomized sequence at least one-week apart, to the The short cosyntropin test with three different doses, 0.2 µg/kg of body weight, 1 or 10 µg fixed dose stimuli. The assessment and data analysis were blinded to the individual and the investigator. Results: Cortisol response was reduced in the group with obesity with the 1 µg fixed dose stimuli at 30 minutes (median, IQR) 649.6 µg, 567.3-738.4 µg for the control group vs. 568.6 µg, 528.4-623.13 µg, p=0.04; there was a lower cortisol peak at 60' in all the three evaluated doses, with a dose-dependent trend. A weight-adapted cosyntropin dose of 0.2 µg in obesity produces a similar response to the one observed in individuals without obesity. The 1 µg ACTH test falls short on stimulating the cortisol adrenal response in individuals with obesity.

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