Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.

PURPOSE: This study aims to describe the ocular manifestations, treatment, and prognosis of OPMD patients registered in the national Israel OPMD(IsrOPMD) registry. METHODS: Data was prospectively collected from patients referred to the IsrOPMD registry from January 2022 to March 2023. This included patient demographics, medical and ocular history, eye exams, eyelid evaluations, visual field exams, and orthoptic evaluations. RESULTS: 30 patients (15 males, mean age 53 years) were treated in the ocular OPMD clinic, predominantly of Bukhari descent (86.6%). The mean visual acuity was 0.06 logMAR. Twenty-one patients (70%) had eye movement problem, mostly in horizontal gaze. 6(20%) patients' complaint about diplopia. Ptosis surgery was performed in 21(70%) patients, with 17(56.7%) patients underwent frontalis sling surgery and 4(13.3%) patients undergoing levator advancement. The mean Margin reflex distance (MRD1) improved post-surgery (2.28 mm vs. 1.58 mm), but 11(36.6%) patients required more than one ptosis surgery. CONCLUSIONS: The study contributes valuable insights into the ocular aspects of OPMD. It reveals that OPMD patients often experience a range of ocular symptoms, such as ptosis, abnormalities in eye movements, strabismus, and potentially diplopia, which can significantly impact their quality of life. The findings underscore the importance of regular ophthalmological follow-up for these patients to address these symptoms effectively. The study is significant in contributing to the limited but growing knowledge about the ocular manifestations of OPMD and the management of these symptoms to improve the quality of life for patients suffering from this condition.

Ribosome subunits are upregulated in brain samples of a subgroup of individuals with schizophrenia: A systematic gene expression meta-analysis.

One of the new theories accounting for the underlying pathophysiology of schizophrenia is excitation/inhibition imbalance. Interestingly, perturbation in protein synthesis machinery as well as oxidative stress can lead to excitation/inhibition imbalance. We thus performed a systematic meta-analysis of the expression of 79 ribosome subunit genes and two oxidative-stress related genes, HIF1A and NQO1, in brain samples of individuals with schizophrenia vs. healthy controls. We integrated 12 gene expression datasets, following the PRISMA guidelines (overall 511 samples, 253 schizophrenia and 258 controls). Five ribosome subunit genes were significantly upregulated in a subgroup of the patients with schizophrenia, while 24 (30%) showed a tendency for upregulation. HIF1A and NQO1 were also found to be significantly upregulated. Moreover, HIF1A and NQO1 showed positive correlation with the expression of the upregulated ribosome subunit genes. Our results, together with previous findings, suggest a possible role for altered mRNA translation in the pathogenesis of schizophrenia, in association with markers of increased oxidative stress in a subgroup of patients. Further studies should define whether the upregulation of ribosome subunits result in altered mRNA translation, which proteins are modulated and how it characterizes a subgroup of the patients with schizophrenia.

Coexistence of malignancies in pemphigus vulgaris.

Pemphigus vulgaris (PV) is a rare autoimmune intraepidermal bullous disease. PV has a major effect on morbidity as well as quality of life. There is sparse literature regarding the association between pemphigus vulgaris (PV) and comorbid malignancies. In this study we aimed to assess the risk of malignancy in a cohort of patients with PV and characterize PV-associated malignancies. Data were collected from two tertiary referral centers between the years 2008 and 2019 and compared with the national cancer registry. Of 164 patients with PV, 19 were diagnosed with malignancy: seven prior to PV diagnosis and 12 after. All cancers, solid and hematological, displayed higher incidences compared to the general population (p <0.001). In conclusion, we demonstrated higher rates of malignancies among patients with PV than in the general population. These observations suggest the need for careful assessment and follow up of patients with PV, given the possibility of associated malignancies.

Carboxyhemoglobin Does Not Predict the Need of Mechanical Ventilation and Prognosis during COPD Exacerbation.

Background: Carboxyhemoglobin (COHb) is a complex formed by the binding of carbon monoxide to hemoglobin in blood. Higher COHb levels have been associated with poor prognosis in a variety of pulmonary disorders. However, little is known regarding the prognostic significance of COHb among individuals with chronic obstructive pulmonary disease (COPD) exacerbation. Methods: In a retrospective study, we evaluated associations of venous COHb levels on hospital admission with the need for invasive mechanical ventilation, in-hospital mortality, and rehospitalization, among 300 patients hospitalized for COPD exacerbation in internal medical wards. Results: Rates of in-hospital death and 1-year recurrent hospitalizations were 11.0% and 59.6%, respectively. COHb levels were not significantly associated with in-hospital mortality (OR = 0.82, P=0.25, 95% CI 0.59-1.15) or with 1-year rehospitalizations (OR = 0.91, P=0.18, 95% CI 0.79-1.04). The mean COHb level did not differ significantly between patients who needed invasive mechanical ventilation and those who were not invasively mechanically ventilated during the current hospitalization (2.01 ± 1.42% vs. 2.19 ± 1.68%, P=0.49). Conclusions: Among patients hospitalized with COPD exacerbation in internal medicine wards, COHb levels on admission were not associated with invasive mechanical ventilation treatment, rehospitalizations, or mortality.

The impact of COVID-19 pandemic lockdown on the incidence and outcome of complicated appendicitis.

BACKGROUND: Patient attendance at emergency departments (EDs) during the COVID-19 pandemic outbreak has decreased dramatically under the "stay at home" and "lockdown" restrictions. By contrast, a notable rise in severity of various surgical conditions was observed, suggesting that the restrictions coupled with fear from medical facilities might negatively impact non-COVID-19 diseases. This study aims to assess the incidence and outcome of complicated appendicitis (CA) cases during that period. METHODS: A retrospective study comparing the rate and severity of acute appendicitis (AA) cases during the COVID-19 initial outbreak in Israel during March and April of 2020 (P20) to the corresponding period in 2019 (P19) was conducted. Patient data included demographics, pre-ED status, surgical data, and postoperative outcomes. RESULTS: Overall, 123 patients were diagnosed with acute appendicitis, 60 patients during P20 were compared to 63 patients in P19. The rate of complicated appendicitis cases was significantly higher during the COVID-19 Lockdown with 43.3% (26 patients) vs. 20.6% (13 patients), respectively (p < 0.01). The average delay in ED presentation between P20 and P19 was 3.4 vs. 2 days (p = 0.03). The length of stay was 2.6 days in P20 vs. 2.3 days in P19 (p = 0.4), and the readmission rate was 12% (7 patients) vs. 4.8% (3 patients), p = 0.17, respectively. Logistic regression demonstrated that a delay in ED presentation was a significant risk factor for complicated appendicitis (OR 1.139, CI 1.011-1.284). CONCLUSION: The effect of the COVID-19 initial outbreak and Lockdown coupled with hesitation to come to medical facilities appears to have discouraged patients with acute appendicitis from presenting to the ED as complaints began, causing a delay in diagnosis and treatment, which might have led to a higher rate of complicated appendicitis cases and a heavier burden on health care systems.

Nontuberculous Mycobacterial Pulmonary Infection Among Lung Transplant Recipients.

OBJECTIVES: Data are limited regarding the clinical significance of nontuberculous mycobacteria pulmonary infections among lung transplant recipients. We investigated the incidence and characteristics of pulmonary nontuberculous mycobacteria infection in ourlung transplant patient population. MATERIALS AND METHODS: We obtaineddata of the patients who underwent lung transplant in our center from January 1997 to March 2019. RESULTS: Of 690 patients, nontuberculous mycobacteria were identified in 58 patients (8.4%) over a median follow-up of 3 years. Types of species were as follows: Mycobacterium simiae (n = 24), avium complex (n = 12), abscessus (n = 9), fortuitum (n = 6), chelonae (n = 2), szulgai (n = 1), kansasii (n = 1), lentiflavum (n = 1), and undefined mycobacteria (n = 2). When we compared infections in the early versus late period posttransplant (before and after 6 months), infections with Mycobacterium simiae (16 vs 8 incidents) and Mycobacterium fortuitum (5 vs 1 incident) were more often observed within the early period, whereas most Mycobacterium abscessus (7 vs 1 incident) and Mycobacterium avium complex (9 vs 3 incidents) were observed in the later period. The median forced expiratory volume in 1 second overtime did not differ significantly between patients with and without nontuberculous mycobacteria infection (P = .29). Nontuberculous mycobacteria acquisition was significantly associated with decreased survival (relative risk of 2.41, 95% CI, 1.70-3.43; P ⟨ .001). CONCLUSIONS: The nontuberculous mycobacteria species isolated varied according to the time elapsed since transplant. Among lung transplant recipients, nontuberculous mycobacteria infection was associated with increased mortality but not with lung dysfunction.