The Spectrum of Duodenal Histologic Findings in Patients With Trisomy 21: A Multicenter Study.

OBJECTIVES: Patients with Trisomy 21 (T21) commonly have gastrointestinal symptoms and diseases that prompt evaluation with esophagogastroduodenoscopy (EGD). Our objective is to characterize duodenal histological abnormalities in these patients when undergoing EGD. A secondary aim is to explore associations of histologic findings with different therapies. METHODS: Patients 30 years old or younger with T21 who underwent EGD from 2000 to 2020 at 6 hospitals were included in this retrospective cohort study. Duodenal biopsies were categorized based on reported histopathology findings as normal or abnormal. Abnormal pathology reports were reviewed and categorized into villous atrophy (VA) and duodenitis without VA. The VA group was further categorized based on the presence or absence of celiac disease (CD). RESULTS: We identified 836 patients with T21 who underwent EGD, 419 (50.1%) of whom had duodenal histologic abnormalities. At the time of the first (index) abnormal duodenal biopsy, 290 of 419 had VA and of those, 172 of 290 met CD diagnostic criteria, while 118 of 290 did not meet CD criteria (nonspecific VA). Among the patients with an abnormal biopsy, acid suppression at the time of the index biopsy was less common in patients with VA-CD compared to patients without VA or patients with nonspecific VA (12.2% vs 45.7% vs 44.9%). CONCLUSIONS: Half of the T21 patients in this cohort had abnormal duodenal biopsies including a subgroup with nonspecific VA. In this cohort, acid suppression use was more prevalent in patients with abnormalities other than CD.

The Significance and Clinical Outcome of Lymphocytic Duodenosis in Children: Mayo Clinic Experience and Systematic Review.

BACKGROUND: Lymphocytic duodenosis (LD) defined as increased intraepithelial lymphocytes >25 intraepithelial lymphocytes (IELs) per 100 epithelial cells with normal villous architecture is associated with many gastrointestinal (GI) disorders. We aim to assess the rate and outcome of LD in children and perform a systematic review. METHOD: We reviewed all children (<18 years) who underwent esophagogastroduodenoscopy (EGD) with duodenal biopsy between January 2000 and June 2019 to identify LD cases and control group. Demographics, clinical, and pathologic information were reviewed and recorded. A systematic review including our findings was performed. RESULTS: During the study period 12,744 children underwent an EGD with biopsies. Of those, we identified 426 children with LD (3%) and 474 controls. The median age in years was 10.7 and 12.6 and there were 254 (60%) and 278 (59%) girls in the LD and control group, respectively. The most common presenting symptoms in both groups were abdominal pain (52%), gastroesophageal acid reflux disease (18%), diarrhea (16%), and vomiting (12%). Diarrhea (21% vs 12%, P < 0.001) and constipation (2% vs 0.4%, P = 0.021) were statistically different between the LD and control group, respectively. Median follow-up (range) is 3.6 (0.0, 190.9) and 3.1 (0.0, 194.2) in the LD and control group, respectively. CD (5% vs 0%, P < 0.001), Crohn disease (9% vs 3%, P = 0.003) and Helicobacter pylori gastritis (3% vs 1%, P = 0.021) were more common in the LD group. CONCLUSIONS: The Rate of LD in children is similar to reported rate in adults. In the absence of Crohn disease, CD or H. Pylori, LD seems to be a benign and transient histologic finding in children.

Euglycemic Diabetic Ketoacidosis in a Patient With Urinary Tract Infection.

Diabetes Mellitus (DM) is a complex metabolic disease primarily associated with elevated blood glucose levels in the body. Diabetic ketoacidosis (DKA) is the most feared acute presentation of diabetes mellitus (DM) in both type 1 and type 2 diabetes mellitus. Furthermore, euglycemic diabetic ketoacidosis (EDKA) is a relatively rare complication of DM in which the blood glucose levels are usually less than 250 mg/dl with an elevated anion gap metabolic acidosis. It can be a diagnostic challenge due to normal blood glucose levels and often can be overlooked. Physicians should be aware of EDKA; prompt diagnosis and treatment are critical in the timely management of the condition to prevent complications. We present a case of EDKA in a 74-year-old female precipitated by a urinary tract infection which was identified and treated promptly with insulin and dextrose infusion. In addition to that, an important difference between British and American guidelines has been highlighted.

Effect of Esophagogastroduodenoscopy Volume and Gastric/Esophageal Pathology on the Rate of Lymphocytic Duodenosis Reporting in Children and Adolescents.

Background It is not clear if the increase in the number of esophagogastroduodenoscopies (EGDs) performed has any significant effect on the rate of lymphocytic duodenosis (LD) reporting in children and adolescents and whether it correlates with abnormal gastric and/or esophageal pathology." Methods We performed a single-center retrospective study using the Mayo Clinic electronic health record and pathology database. We reviewed all EGD procedures performed in children and adolescents (<18 years) between January 1, 2000, and December 31, 2018, and identified two groups, the LD group and matched age and sex control group (normal duodenal biopsies). We evaluated the correlation of LD rate with the yearly number of EGDs performed and the presence of abnormal gastric and/or esophageal pathology. Results Of 11,870 EGDs performed, we identified 338 (3%) individuals with LD and 390 (3%) randomly selected controls, with a mean (SD) age of 9.6 (5.3) and 11.7 (5.0) years, respectively. Based on logistic regression analysis, abnormal gastric histology was associated with the presence of LD when compared with controls (odds ratio, 2.85; 95% CI, 2.05-3.97; P < 0.001). The rate of LD-positive biopsies per year was highly correlated with the number of EGDs performed (ρ = 0.931; 95% CI, 0.826-0.974; P < 0.001). Conclusion The rate of LD reporting is correlated with the number of EGDs performed and is more likely seen in children and adolescents with abnormal gastric histology.

Acute thrombosis of a giant perimedullary arteriovenous fistula in a pediatric HHT patient.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder that results in arteriovenous malformations (AVMs) in the nose, mucocutaneous surfaces and visceral organs, including lung, brain, liver, bowel and rarely spinal cord. We describe a case of a young child with HHT who presented with acute paraparesis due to acute thrombosis of a spinal perimedullary arteriovenous fistula. Patient underwent coil embolization of spinal arteriovenous shunt with resolution of clinical symptoms. This case highlights the possibility of catastrophic complications in young children with HHT, the potential preventive role of screening for spinal AVMs in HHT and the importance of timely intervention.

Paradoxical increase in ambulatory SBP in coarctation of aorta a compared to essential hypertension.

BACKGROUND: The relationship between office vs. ambulatory blood pressure (BP) indices are well-studied in patients with essential hypertension and based on these data, it is known that the average 24-h ambulatory BP is typically lower than office BP. However, emerging data show that office SBP underestimates arterial afterload in patients with coarctation of aorta (COA), and a minimal increase in stroke volume during low-intensity exercise results in an exaggerated rise in SBP as compared to those with essential hypertension. We hypothesized that COA patients will have higher ambulatory SBP and a higher prevalence of masked hypertension compared to patients with essential hypertension. METHODS: Case-control study of 118 COA patients and 118 patients with essential hypertension matched by age, sex, BMI and office SBP. RESULTS: Although both groups had similar office SBP (132 ± 17 mmHg) by design, the COA group had paradoxical increases in 24-h ambulatory SBP (135 ± 14 vs. 126 ± 13; P < 0.001) and daytime ambulatory SBP (142 ± 16 vs. 130 ± 13; P < 0.001), and less nocturnal dipping (-3 ± 5 vs. -9 ± 4; P < 0.001). The COA group also had a higher prevalence of masked hypertension [36 (31%) vs 14 (12%); P < 0.001), and worse arterial function indices. CONCLUSION: These findings underscore the potential limitations of relying on office SBP for screening/monitoring of hypertension in COA and potential pitfalls in extrapolating essential hypertension guidelines recommendations to the treatment of COA. It also provides the rationale for further studies to determine if pharmacologic BP interventions guided by ambulatory BP data will improve clinical outcomes in the COA population.

Effect of Combined Ventricular-Arterial Stiffening on Exercise Hemodynamics in Adults With Repaired Coarctation of Aorta.

BACKGROUND: Patients with coarctation of aorta (COA) have arterial stiffening, and this is associated with impaired cardiac reserve and hypertensive systolic blood pressure (SBP) response during exercise. However, whether patients with COA have concomitant left ventricular (LV) stiffening and the potential impact of combined ventricular-arterial stiffening on exercise hemodynamics are unknown. METHODS: We studied 174 patients with repaired COA (aged 39 ± 11 years and male 103 [59%]) and 174 matched controls. Our study hypotheses are: (1) patients with COA have higher ventricular-arterial stiffness (end-systolic elastance [Ees] and arterial elastance [Ea]) as compared with controls; (2) ventricular-arterial stiffness was associated with LV stroke volume augmentation (ΔLVSV) and SBP augmentation (ΔSBP) during exercise among patients with COA. RESULTS: Despite similar systolic SBP, patients with COA had higher Ea (1.8 ± 0.4 vs 1.4 ± 0.4 mm Hg/mL, P < 0.001), higher Ees (2.41 ± 0.65 vs 2.17 ± 0.40 mm Hg/mL, P < 0.001), but similar Ea/Ees (0.87 ± 0.29 vs 0.83 ± 0.33, P = 0.2). ΔLVSV was 6.1 ± 1.4 mL/beat. Combined ventricular-arterial stiffness had a stronger correlation with ΔLVSV as compared with Ea alone (r = -0.53 vs r = -0.41, P = 0.006) and as compared with Ees alone (r = -0.53 vs r = -0.46, P = 0.02). ΔSBP was 48 ± 21 mm Hg. Combined ventricular-arterial stiffness had a stronger correlation with ΔSBP as compared with Ea alone (r = 0.57 vs r = 0.43, P < 0.001) and as compared with Ees alone (r = 0.57 vs r = -0.39, P < 0.001). CONCLUSION: Patients with COA had combined ventricular-arterial stiffening, and this was associated with impaired cardiac reserve and hypertensive SBP response during exercise. These findings provide foundation for further studies to determine whether drugs that reduce both ventricular and arterial stiffness will improve exercise capacity and hemodynamics in this unique population.

CONTEXTE: La coarctation de l'aorte (CA) s'accompagne d'une rigidification des artères, qui est à son tour associée à une altération de la réserve de force du cœur et à une augmentation de la pression artérielle systolique (PAS) à l'effort. On ne sait toutefois pas si la CA entraîne aussi une rigidification du ventricule gauche, et on ne connaît pas les répercussions possibles d'une rigidification ventriculaire et artérielle sur les paramètres hémodynamiques à l'effort. MÉTHODOLOGIE: Nous avons étudié 174 patients présentant une CA corrigée (âge : 39 ± 11 ans; hommes : 103 [59 %]) et 174 témoins appariés. Nos hypothèses étaient les suivantes : 1) la rigidité ventriculaire et artérielle (élastance télésystolique [ETS] et élastance artérielle [EA]) est plus importante chez les sujets présentant une CA que chez les sujets témoins; 2) la rigidité ventriculaire et artérielle est associée à une augmentation du volume d'éjection ventriculaire gauche (ΔVEVG) et à une augmentation de la pression artérielle systolique (ΔPAS) à l'effort chez les patients présentant une CA. RÉSULTATS: Malgré une PAS comparable, les patients présentant une CA avaient une EA plus élevée que les sujets témoins (1,8 ± 0,4 vs 1,4 ± 0,4 mmHg/ml, p < 0,001) et une ETS également plus élevée (2,41 ± 0,65 vs 2,17 ± 0,40 mmHg/ml, p < 0,001), mais un rapport EA/ETS similaire (0,87 ± 0,29 vs 0,83 ± 0,33, p = 0,2). La ΔVEVG était de 6,1 ± 1,4 ml/battement. La rigidité ventriculaire et artérielle mixte était plus fortement corrélée avec une ΔVEVG, comparativement à l'EA seule (r = -0,53 vs r = -0,41, p = 0,006) et à l'ETS seule (r = -0,53 vs r = -0,46, p = 0,02). La ΔPAS était de 48 ± 21 mmHg. La rigidité ventriculaire et artérielle mixte était plus fortement corrélée avec la ΔPAS, comparativement à l'EA seule (r = 0,57 vs r = 0,43, p < 0,001) et à l'ETS seule (r = 0,57 vs r = -0,39, p < 0,001). CONCLUSION: La CA s'accompagnait d'une rigidification ventriculaire et artérielle, elle-même associée à une altération de la réserve de force du cœur et à une augmentation de la PAS à l'effort. Ces résultats pourront servir de fondements à des études complémentaires visant à déterminer si un traitement qui réduit la rigidité ventriculaire et artérielle pourrait améliorer la capacité à l'effort et les paramètres hémodynamiques dans cette population particulière.

Recurrent sustained atrial arrhythmias and thromboembolism in Fontan patients with total cavopulmonary connection.

BACKGROUND: Total cavopulmonary connection (TCPC) is associated with a lower risk of incident atrial arrhythmias as compared to atriopulmonary Fontan, but the risk of recurrent atrial arrhythmias is unknown in this population. The purpose of this study was to determine the incidence and risk factors for recurrent atrial arrhythmias and thromboembolic complications in patients with TCPC. METHODS: This is a retrospective multicenter study conducted by the Alliance for Adult Research in Congenital Cardiology (AARCC), 2000-2018. The inclusion criteria were TCPC patients (age > 15 years) with prior history of atrial arrhythmia. RESULTS: A total of 103 patients (age 26 ± 7 years; male 58 [56%]) met inclusion criteria. The mean age at initial arrhythmia diagnosis was 13 ± 5 years, and atrial arrhythmias were classified as atrial flutter/tachycardia in 85 (83%) and atrial fibrillation in 18 (17%). The median duration of follow-up from the first episode of atrial arrhythmia was 14.9 (12.1-17.3) years, and during this period 64 (62%) patients had recurrent atrial arrhythmias (atrial flutter/tachycardia 51 [80%] and atrial fibrillation 13 [20%]) with annual incidence of 4.4%. Older age was a risk factor for arrhythmia recurrence while the use of a class III anti-arrhythmic drug was associated with a lower risk of recurrent arrhythmias. The incidence of thromboembolic complication was 0.6% per year, and the cumulative incidence was 4% and 7% at 5 and 10 years respectively from the time of first atrial arrhythmia diagnosis. There were no identifiable risk factors for thromboembolic complications in this cohort. CONCLUSIONS: Although TCPC provides superior flow dynamics and lower risk of incident atrial arrhythmias, there is a significant risk of recurrent arrhythmias among TCPC patients with a prior history of atrial arrhythmias. These patients may require more intensive arrhythmia surveillance as compared to other TCPC patients.

Secondary Postpartum Hemorrhage Presenting With Bombay Blood Group: A Case Report.

Bombay blood group is a rare blood group. Due to its rarity and limitations for transfusions, it is often challenging to manage individuals with Bombay groups in emergencies. Here, we present a case of a 26-year-old woman with the Bombay blood group who had premature rupture of membranes at the 39th week of pregnancy while delivering a male child vaginally. The patient suffered from postpartum hemorrhage due to retention of the placenta and needed an immediate blood transfusion. During the antenatal screening, she was noted to have the O-positive blood group. Cross-matching of her blood was incompatible with O-positive blood and was identified as the Bombay blood group after having tested for anti-H antibodies. The patient underwent transfusion by identifying individuals with the O-positive Bombay blood group. As a result of this, we emphasize the diagnosis and identification of the individuals with the Bombay blood group and make blood available especially in medical emergencies.