Solid versus liquid pulmonary micro-aspiration of reflux disease. Does it make a difference in determining the need for intervention?

Background: Pulmonary micro-aspiration (PMA) is a feared complication of gastroesophageal reflux disease (GORD). A novel scintigraphic test for GORD has been developed and validated. It can demonstrate contamination of the upper and lower airways by refluxate.

Somatic mosaicism in focal epilepsies.

Purpose Of Review: Over the past decade, it has become clear that brain somatic mosaicism is an important contributor to many focal epilepsies. The number of cases and the range of underlying pathologies with somatic mosaicism are rapidly increasing. This growth in somatic variant discovery is revealing dysfunction in distinct molecular pathways in different focal epilepsies.

Durability of radiofrequency ablation for long-segment and ultralong-segment Barrett's esophagus over 10 years.

Background: Long-term durability data for radiofrequency ablation (RFA) to prevent esophageal adenocarcinoma in long-segment (LSBE) and ultralong-segment Barrett's esophagus (ULSBE) is lacking. This study aimed to determine 10-year cancer progression, eradication, and complication rates in LSBE and ULSBE patients treated with RFA.

Methods: Single-surgeon prospective database of patients with LSBE (≥ 3 to < 8 cm) and ULSBE (≥ 8 cm) who underwent RFA (2001-2021) were retrospectively analyzed.

Recurrence in Paraesophageal Hernia: Patient Factors and Composite Surgical Repair in 862 Cases.

Background: Repair of giant paraesophageal hernia (PEH) is associated with a considerable hernia recurrence rate by objective measures. This study analyzed a large series of laparoscopic giant PEH repair to determine factors associated with anatomical recurrence.

Method: Data was extracted from a single-surgeon prospective database of laparoscopic repair of giant PEH from 1991 to 2021.

Trends in outcomes of 862 giant hiatus hernia repairs over 30 years.

Purpose: Laparoscopic giant hiatus hernia repair is technically difficult with ongoing debate regarding the most effective surgical technique. Repair of small hernia has been well described but data for giant hernia is variable. This study evaluated trends in outcomes of laparoscopic non-mesh repair of giant paraesophageal hernia (PEH) over 30 years.

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age.

ILAE Genetic Literacy Series: familial focal epilepsy syndromes.

There are a number of familial focal epilepsy syndromes, each with distinct clinical characteristics. Here, we review the epilepsy phenotypes and the genetic architecture of these syndromes. Using an illustrative clinical case, we describe the important steps in making a diagnosis and ordering appropriate genetic tests.

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDEP. Furthermore, variants in genes associated with Long QT syndrome (LQTS) have been identified in patients with SUDEP.

From dangerous branches to urban banyan: Facilitating aerial root growth of Ficus rubiginosa.

Large urban trees have many benefits. However, falling branches pose a serious hazard to both people and infrastructure. In several tree species, aerial roots grow down from branches to the ground.

Human generalized epilepsy: Increased somatosensory and striatothalamic connectivity.

Objective: To map functional MRI (fMRI) connectivity within and between the somatosensory cortex, putamen, and ventral thalamus in individuals from a family with a GABAergic deficit segregating with febrile seizures and genetic generalized epilepsy.

Methods: We studied 5 adults from a family with early-onset absence epilepsy and/or febrile seizures and a GABA receptor subunit gamma2 pathogenic variant () vs 5 age-matched controls. We infer differences between participants with the pathogenic variant and controls in resting-state fMRI connectivity within and between the somatosensory cortex, putamen, and ventral thalamus.

Ostracizing for a Reason: A Novel Source Paradigm for Examining the Nature and Consequences of Motivated Ostracism.

Ostracism, a complex social phenomenon, involves both targets (ostracized individuals) and sources (ostracizers). The current experiment redressed a gap in the ostracism literature by devising a novel, three-phase paradigm to investigate motivated ostracizing. In the current study, 83 females were assigned to one of four conditions during a Cyberball game: motivated sources chose to ostracize an obnoxious fellow player, induced sources ostracized a fellow player at the behest of the experimenter, targets were ostracized, and included participants received the ball proportionately.

Prediction of adherence and control in diabetes.

This study aims to predict adherence to diabetic treatment regimens and sustained diabetic control. During two clinic visits that were 2 months apart, 63 adult outpatients completed measures of diabetic history, current treatment, diabetic control, adherence, and self-efficacy about adherence to treatment. Results showed that self-efficacy was a significant predictor of later adherence to diabetes treatment even after past levels of adherence were taken into account.

Saccadic disorders caused by cooling the superior colliculus or the frontal eye field, or from combined lesions of both structures.

We used reversible cold lesions to explore the oculomotor consequences of separate and combined dysfunction of the superior colliculus (SC) and the frontal eye field (FEF). Two monkeys were trained to fixate visual targets. In one we measured visually driven saccades while cooling the right SC, first alone, then in combination with bilateral FEF ablation.

Disconnection of parietal and occipital access to the saccadic oculomotor system.

The experiment explored the networks through which signals arising from visual areas of cortex control saccadic eye movements. Electrical stimulation of the inferior parietal and the occipital cortex (here termed the "posterior eye fields") normally evokes saccadic eye movements. We replicated previous reports that these evoked eye movements ceased after large tectal ablations.

Targeting errors and reduced oculomotor range following ablations of the superior colliculus or pretectum/thalamus.

The physiology of the superior colliculus (SC) implicates it in the visual control of eye movements. In the primate, acute inactivation of the superior colliculus delays the onset of a visually guided saccade, slows its velocity, and shortens its amplitude. Previous research leaves uncertain whether other oculomotor disorders which sometimes follow ablation of this structure are due to tectal pathology, to neural damage surrounding the tectum, or to both causes.