"An urgent need for transition of care programs for adolescents and young adults with neurogastroenterology and motility disorders".

Transition of Care for Adolescents and Young Adults (AYA) with Neurogastroenterology & Motility (NGM) Disorders.

Sex-dependent outcomes of recanalization-treated acute ischemic stroke patients at Shamir (Assaf Harofeh) medical center, Israel, 2011-2020.

BACKGROUND/OBJECTIVES: Sex-based differences in incidence, etiologies, severity and recanalization treatment outcomes of patients with acute ischemic stroke (AIS) have been studied extensively. We set out to determine if there were sex-based differences in outcomes among AIS patients who received recanalization treatments at Shamir (Assaf Harofeh) Medical Center (SMC), Israel, between 2011 and 2020. METHODS: This was a single-center, retrospective chart review. The primary analysis compared outcomes for men and women, overall and stratifying by disease severity. We compared also demographics, risk factors and workflow data. RESULTS: Eight hundred and eleven patients received recanalization treatment between 2011 and 2020: 472 (58.1%) men and 339 (41.8%) women. Mean age, NIHSS score and proportion with an NIHSS score ≥ 6 were higher for women. Cerebrovascular risk factors were more prevalent in women, particularly atrial fibrillation, except that current smoking was more prevalent in men. Six hundred and twenty patients (78.1%) were treated with TPA alone, 89 (11.2%) with TPA and endovascular treatment (EVT), and 85 (10.7%) with EVT alone. Fifty percent of patients were discharged home, 41% to a rehabilitation hospital or nursing home, and 9% did not survive. Twenty-four patients (3%) sustained symptomatic bleeds. Outcomes were worse in patients with NIHSS score ≥ 6. Outcomes did not differ by sex. CONCLUSIONS: While treated women presented with more severe AIS and more risk factors, we did not find significant sex-related differences in outcomes. Meticulous adherence to risk factor modification remains the best strategy to reduce stroke incidence, morbidity, and mortality in women and in men.

Estimating the X chromosome-mediated risk for developing Alzheimer's disease.

Parental lineage has been shown to increase the risk of Alzheimer's disease (AD) in the offspring, with greater risk attributed to maternal lineage. While 40 genes/loci have been linked to the risk of developing AD, none has been found on the X chromosome. We propose a new method to estimate the risk for developing AD mediated by the X chromosome in a subgroup of late-onset AD (LOAD) patients with amnestic mild cognitive impairment (aMCI) or early AD and unilateral ancestral history of AD or dementia, and pilot-test it on our clinic data. Records of patients aged 55-80 years presenting to our Memory Disorders Clinic with aMCI or early AD between May 2015 and September 2020, were reviewed, counting patients with a family history of AD or dementia and unilateral ancestral lineage. The X chromosome-attributable relative risk was estimated by calculating the following odds ratio (OR): (women with paternal lineage:women with maternal lineage)/(men with paternal lineage:men with maternal lineage). The proportion of genetic risk borne by the X chromosome is equal to (OR-1)/OR. 40 women aged 66.1 ± 5.1 years (mean ± standard deviation) and 31 men aged 68.1 ± 6.5 were identified. The OR was (18:22)/(6:25) = 3.4 (95% confidence interval 1.1-10.1; p = 0.027). The estimated proportion of genetic risk borne by the X chromosome in this population is 70% (95% CI 12-90%). This paper presents the first application of a new method. The numbers are small, the confidence intervals wide. The findings need to be replicated. The method may be generalizable to other diseases.

Clinical Characterization of Pediatric Gastroparesis Using a Four-hour Gastric Emptying Scintigraphy Standard.

OBJECTIVES: Four-hour gastric emptying scintigraphy (GES) is the recommended method to identify both adult and childhood gastroparesis (GP). Previous pediatric studies have, however, not used this standard. We sought to determine the characteristics and outcomes of children versus adolescents with GP using the 4-hour GES evaluation. METHODS: We performed a retrospective chart review of pediatric patients diagnosed with GP by 4-hour GES (>10% retention at 4 hours). Demographics, body mass index, GP-related symptoms, comorbidities, etiologies, therapies (eg, medications), healthcare utilization, and response to therapy were captured systematically. Symptoms were compared from the initial versus last gastroenterology visit. Outcomes were categorized as no improvement; improvement (resolution of at least 1 symptom while remaining on therapy); and complete resolution of symptoms. RESULTS: A total of 239 subjects (12.1 ±â€Š4.1 years [mean ±â€Šstandard deviation], 70% girls) were included. The identified characteristics of childhood GP were broad with idiopathic GP being the most common etiology. Outcomes over a median of 22 months (25%-75%: 9.0-45.5 months) were 34.8% no improvement, 34.8% some improvement, and 30.3% with complete symptom resolution. Compared to younger children, adolescents had a higher female predominance (P < 0.01) and were more likely to have nausea (P = 0.006). Girls were more likely to have abdominal pain (P = 0.001), nausea (P = 0.03), and a documented diagnosis of dysautonomia (P = 0.03). Boys were more likely to have regurgitation (P = 0.006), gastroesophageal reflux disease (P = 0.02), and rumination (P = 0.02). CONCLUSIONS: Using the 4-hour GES standard, childhood GP has broad clinical characteristics and outcomes. There are several significant age- and sex-based differences in childhood GP.

Very Early Onset of Inflammatory Bowel Disease in a Patient With Long-Segment Hirschsprung's Disease.

Hirschsprung's disease (HSCR) is a congenital defect caused by impaired development of the enteric nervous system. Inflammatory bowel disease has an increased prevalence in patients with HSCR. We describe the clinical course of a patient with long-segment HSCR who, at the age of 12 months, developed diffuse intestinal inflammation most clinically consistent with very early onset inflammatory bowel disease. We further explore previous studies that implicate the underlying neuroenteric abnormalities in HSCR as possible explanations for this patient's intestinal immune and inflammatory dysregulation.

Effect of colon transection on spontaneous and meal-induced high-amplitude--propagating contractions in children.

BACKGROUND: After Hirschsprung disease (HD) surgery, many children experience fecal incontinence caused by increased number of high-amplitude-propagating contractions (HAPCs) through the neorectum to the anal verge. The aim of this study was to determine whether children with HD have more HAPCs than children with colon transections for reasons other than HD. METHODS: We reviewed 500 colon manometries. Children (age 7.6 ±â€Š5.1 years, 275 boys) with functional constipation (n = 237, age 7.4 ±â€Š5.0 years, 126 boys) and chronic abdominal pain (n = 48, age 9.8 ±â€Š5.8 years, 25 boys) served as controls compared with subjects with HD (n = 56, age 6.9 ±â€Š4.1 years, 44 boys) and colon transection for other reasons (n = 24, age 6.1 ±â€Š5.8 years, 12 boys). We excluded 139 subjects without HAPCs. We documented HAPCs during 1-hour fasting and 1-hour postprandial. Results are in mean ±â€ŠSD. RESULTS: During fasting, HD subjects had more HAPCs (2.2 ±â€Š3.4/hour) versus functional constipation (0.8 ±â€Š2.2/hour, P = 0.0004) and chronic pain (0.5 ±â€Š1.1/hour, P = 0.001), but not more than colon transection (1.9 ±â€Š3.2/hour, P = 1.0). HD showed more postprandial HAPCs (4.0 ±â€Š5.4/hour) than functional constipation (1.5 ±â€Š2.5/hour, P < 0.0001) and chronic pain (0.9 ±â€Š1.6/hour, P < 0.0001), but not more than colon transection (2.4 ±â€Š3.0/hour, P = 0.6). There were more HAPCs fasting and postprandial after colon transection (1.9 ±â€Š3.2/hour and 2.4 ±â€Š3.0/hour) than functional constipation (0.8 ±â€Š2.2/hour, P = 0.3 and 1.5 ±â€Š2.5/hour, P = 1.0) and chronic pain (0.5 ±â€Š1.1/hour, P = 1.0 and 0.9 ±â€Š1.6, P = 1.0). HD subjects were divided by chief complaint: fecal incontinence or constipation. HD subjects with incontinence (n = 23) only had more HAPCs fasting (P = 0.01) and postprandial (P = 0.01) than HD subjects with constipation (n = 28) only. CONCLUSIONS: Increased HAPCs followed colon transection, regardless of a cause. HD subjects with incontinence had more HAPCs than subjects with colon transection for other reasons.