Purpose To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. Design Comparative cohort study. Participants Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. Main Outcome Measures Phenotypic characteristics were assessed on color fundus photographs, short-wavelength autofluorescence (488-nm), and near-infrared autofluorescence (NIR-AF, 787-nm) images. Subfoveal thickness measurements were obtained from enhanced-depth imaging OCT. Generalized retinal function was determined with full-field electroretinogram (ffERG) testing, and lipofuscin accumulation was assessed by quantitative autofluorescence (qAF). Results All patients exhibited advanced disease features, including pigment migration in the macula and retinal vessel attenuation at an early age, and reported a symptomatic onset, on average, at 7.4 years (average for ABCA4 disease is 21.9 years, P < 0.0001). Deterioration of the macula was observed to begin with an intense, homogeneous signal on short-wavelength autofluorescence, which corresponds to an attenuated NIR-AF signal and progresses to a patchy, coalescing pattern of chorioretinal atrophy within the subsequent decade. Measurement of choroidal thickness revealed a more rapid thinning of choriocapillaris with age of Sattler’s layer compared with the rate in most other patients with ABCA4 disease (P < 0.001). Levels of qAF in the macula before atrophy were above both the 95% confidence intervals for healthy individuals and patients with Stargardt disease (STGD1) (>1000 qAF units). Severe attenuation of cone responses and notable decreases in rod responses were detected by ffERG. Sequencing of the ABCA4 gene revealed exclusively deleterious, null mutations, including stop codons; frameshift deletions; variants in canonical splice sites, which completely abolish splicing; and known deleterious missense alleles. Conclusions The ROC phenotype is a unique classification of ABCA4 disease, which is caused by deleterious null biallelic ABCA4 mutations and is characterized by the rapid deterioration of retinal pigment epithelium and photoreceptor layers in the macula and significant choroidal thinning within the first 2 decades of life.
Hyperreflective subretinal deposits may be a manifestation of advanced ABCA4 disease, particularly in regions susceptible to disease-related changes, such as lipofuscin accumulation.
IntroductionThe primary receptor for SARS-CoV-2 infection, angiotensin-converting enzyme-2 (ACE-2), is expressed in the gastrointestinal tract and liver parenchyma. The involvement of the gastrointestinal tract with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection has remained unclear. The following study retrospectively reviews gastrointestinal symptoms and liver function tests at the time of hospital admission to identify patient outcomes including prolonged hospital stay, the requirement for intensive care, and all-cause in-hospital 30-day mortality. MethodsA retrospective review of patient charts at the Woodhull Medical and Mental Health Center (WMC) was conducted at the time of hospital admission, using a pre-determined selection criterion. All adult patients, both inpatient and outpatient, were included from March 2020 till May 2020. A 95% confidence interval was used to estimate the odds ratio (OR) for patient outcomes. ResultsOf the 520 patients, gastrointestinal symptoms including nausea (OR = 0.375, p = 0.015), and nausea and vomiting in combination (OR = 0.400, p = 0.016) had an inverse protective relationship with all-cause inhospital 30-day mortality among COVID-19 patients. Gastrointestinal symptoms including diarrhea (OR = 1.008, p < 0.001), and nausea and vomiting (OR = 1.291, p = 0.043) had a mild impact on the length of hospital stay. ConclusionElevated liver transaminases including alanine transaminase (ALT) and aspartate transaminase (AST) at the time of hospital admission can predict critical care requirement and all-cause 30-day hospital mortality in patients with COVID-19 infection. Presence of gastrointestinal symptoms is associated with worsened outcomes.
Introduction: Double pylorus also termed double-channel pylorus is an endoscopic finding that refers to the presence of a double connection between the gastric antrum and the duodenal bulb. This connection is typically established through the presence of a gastroduodenal fistula. Despite that double pylorus is reported in the literature, its incidence is extremely low and accounts for less than 0.4% of upper endoscopic findings. Herein we report the case of 74 year-old Albanian man who was found to have a double pylorus in the setting of peptic ulcer disease. Case Description/Methods: A 74 year-old man with history of hypertension presented to the emergency room with a few week history of epigastric pain, nausea and vomiting. He denied NSAIDs intake. Vital signs were within normal range. Physical examination revealed epigastric tenderness. Laboratory tests were unremarkable. Abdominal CT scan showed inflammatory changes of the gastric antrum and proximal duodenum (panel A). Findings on upper endoscopy included erythema and edema of the gastric wall, a 7 mm cratered duodenal bulb ulcer in addition to a gastroduodenal fistula that connected the gastric antrum to the proximal duodenum consistent with a double pylorus (panel B). Routine staining of gastric biopsies identified Helicobacter Pylori (HP) organisms. The patient received high dose proton pump inhibitors and Helicobacter Pylori eradication regimen. His symptoms significantly improved and was successfully discharged home after few days of treatment initiation. He was advised to avoid Non-steroidal anti-inflammatory drugs and was scheduled for an outpatient follow-up to document eradication of HP. Discussion: Double pylorus was first described in 1969. It is twice as common in men compared to women. It can be congenital or acquired. Congenital cases are associated with gastric duplication, heterotrophic pancreatic tissue and pancreas divisum. Acquired double pylorus is usually secondary to systemic diseases, gastric malignancy, drugs or Helicobacter Pylori infection that lead to the formation of a fistulous tract between the gastric antrum and the proximal duodenum. Double pylorus can be asymptomatic or manifest as gastrointestinal bleeding or abdominal pain. Treatment includes acid suppression via proton pump inhibitors or H2-Receptor antagonists. Refractory and complicated cases require advanced endoscopic or surgical interventions.[3741] Figure 1. Panel A: CT scan of the abdomen showing inflammatory changes of the gastric antrum and proximal duodenum; Panel B: Upper endoscopy showing a gastroduodenal fistula connecting the gastric antrum to the proximal duodenum consistent with a double pylorus.
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