COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center.
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ABSTRACT:
SUBMITTER: Tummolo A
PROVIDER: S-EPMC8464704 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of its unpredictable consequences in these patients. There is limited data in literature on evaluating the impact and the outcome of COVID-19 infection in these patients. This cross-sectional retrospective study on a large cohort of unvaccinated IMD patients, reviewed the incidence of COVID-19 infection, disease manifestation and outcome during the pandemic between November 2019 and July 2021. In this cohort of 1058 patients, 11.7% (n = 124) were infected with COVID-19. Their median age was 16 years (age range 2-42); 57% (n = 71) were males. Post-exposure positive test was noted in 78% (n = 97) patients, while 19% (n = 24) had symptomatic diagnosis and three patients tested positive during pre-hospital visits screening. Most patients, 68.5% (n = 85) had mild COVID-19 related symptoms such as fever, cough, headache and diarrhea while 13.7% (n = 17) patients had no symptoms. Of twenty-two patients (17.7%) who required hospitalization, 16 were adults with various intoxication and energy metabolism disorders, who developed IMD related complications such as metabolic acidosis, hyperammonemia, acute pancreatitis, hypoglycemia, rhabdomyolysis and thrombosis. Ten patients needed intensive care management. The cohort death rate was 2.4% (3 patients). Overall, the clinical course of COVID-19 infection in these IMD patients was relatively mild except for patients with intoxication and energy metabolism disorders who had high risk of developing acute metabolic decompensation with severe complications.
| S-EPMC9424117 | biostudies-literature
Project description:We retrospectively reviewed 488 fetuses who diagnosed with FGR and without structural malformation during a 10-year period. A total of 19 (3.9%) cases of chromosomal anomalies were detected, including 11 cases of numerical abnormalities, 5 of structural abnormalities, and 3 of mosaicism. We classified the cohort into cases diagnosed at ≤24, 25-28, 29-32, and > 32 weeks of gestation according to the onset gestations; isolated FGR, FGR with soft markers, and FGR with nonstructural anomalies according to different ultrasound findings; high and low-risk maternal serum screening (MSS) groups based on the MSS results. The results suggested that abnormal karyotypes were more frequently detected in cases diagnosed at ≤24 weeks (7.2%), cases with soft markers (5.2%), and cases with high-risk MSS (7.5%) than in other groups within each classification. Among cases with normal karyotype, additional 4.2% of clinically relevant aberrations were detected by SNP array. The incremental yields in cases diagnosed at ≤24 weeks (6.5%), cases with soft markers (9.5%), and cases with high-risk MSS (12.0%) were higher than those in other groups within each classification. We concluded that fetal chromosomal aberration is an important etiology for FGR without structural malformation, and plays an important role in pregnancies decision-making. SNP array improves the detection of genetic anomalies especially in fetuses diagnosed at ≤24 weeks, fetuses with soft makers, and fetuses with high risk of MSS.
2022-09-20 | GSE211577 | GEO
Project description:In the early months of the coronavirus disease 2019 (COVID-19) pandemic, our center reported a mortality rate of 34% in a cohort of 32 lung transplant recipients with COVID-19 between March and May 2020. Since then, there has been evolving knowledge in prevention and treatments of COVID-19. To evaluate the impact of these changes, we describe the clinical presentation, management, and outcomes of a more recent cohort of lung transplant recipients during the second surge and provide a comparison with our first cohort.MethodsWe conducted a retrospective cohort study that included all consecutive lung transplant recipients who tested positive for severe acute respiratory syndrome coronavirus 2 between November 2020 and February 28, 2021. We compared baseline demographics and major outcomes between the first- and second-surge cohorts.ResultsWe identified 47 lung transplant recipients (median age, 60; 51% female) who tested positive for severe acute respiratory syndrome coronavirus 2 between November 2020 and February 28, 2021. The current cohort had a higher proportion of patients with mild disease (34% versus 16%) and fewer patients with a history of obesity (4% versus 25%). Sixty-six percent (n = 31) required hospitalization and were treated with remdesivir (90%) and dexamethasone (84%). Among those hospitalized, 77% (n = 24) required supplemental oxygen, and 22% (n = 7) required invasive mechanical ventilation. The overall 90-d mortality decreased from 34% to 17% from the first cohort to the second (adjusted odds ratio, 0.26; 95% confidence interval, 0.08-0.85; P = 0.026).ConclusionsAlthough COVID-19-associated mortality rate in lung transplant recipients at our center has decreased over time, COVID-19 continues to be associated with significant morbidity and mortality.
| S-EPMC8966964 | biostudies-literature
Project description:Genome-wide DNA methylation analysis of COVID-19 severity using the Illumina HumanMethylationEPIC microarray platform to analyze over 850,000 methylation sites, comparing COVID-19 patients during and one year after infection, using whole blood tissue.
2022-02-23 | GSE197152 | GEO
Project description:BackgroundSince the beginning of the COVID-19 pandemic, MetabERN has been monitoring the SARS-CoV-2 infection rates within its metabolic community. To gather data on the total number of cases and the severity of symptoms among IMD patients one year into the pandemic, an online survey was distributed among all MetabERN healthcare providers (HCP). Epidemiological analysis was performed by integrating the survey's data with the MetabERN database.ResultsSurvey's respondents reported a total of 452 cases of COVID-19 among their IMD patients (213 paediatric and 239 adults). Considering the total number of patients followed by the respondents (n = 26,347), the registered prevalence of COVID-19 in the IMD population was of 1716 × 100,000. Italy emerged as the most affected country (25.4% of cases), followed by the United Kingdom (14.2% of cases). Most of the paediatric cases of COVID-19 displayed no or mild symptoms during the disease: 34% of HCP reported having asymptomatic patients in 75-100% of cases, while 37.5% reported mild symptoms in about a quarter of their patients. Similarly to paediatric cases, most adult IMD patients with COVID-19 were asymptomatic or had mild symptoms: about one third of respondents reported 75-100% asymptomatic patients and about 65% of HCP had between 0 and 50% of patients with mild symptoms. The majority of the respondents reported no deaths due to COVID-19 in adult and paediatric patients with IMDs.ConclusionsMost of MetabERN's IMD patients who got COVID-19 during the first year of the pandemic had mild symptoms and a positive outcome of the disease. However, fatal events were recorded in paediatric patients; this, together with the lack of information on the long-term effects of COVID-19 in IMDs, call for caution in the metabolic population.
| S-EPMC8894822 | biostudies-literature
Project description:BackgroundThis study aimed to evaluate the factors influencing final visual acuity in pediatric traumatic cataracts.MethodsData of patients who presented with traumatic cataracts were reviewed retrospectively. We evaluated age at trauma; gender, trauma type, cause, and zone; duration between the time of trauma and cataract surgery; surgical method used; time, location, and type of intraocular lens (IOL) implantation; initial and final best corrected visual acuity (BCVA); amblyopia rate; and complications.ResultsIn all, 61 eyes of 59 patients aged < 16 years with cataracts after trauma were included. The mean age of the children was 7.2 ± 3.9 years. Primary IOL implantation was performed in 70.9% of eyes. The BCVA was 0.7 LogMAR or better in 5.9% of the 49 eyes in which the visual acuity could be measured at the time of trauma and in 69.1% of 55 eyes in which it could be measured after treatment. Evaluation of factors potentially influencing the final visual acuity revealed that eyes that had undergone posterior capsulotomy (PC) and anterior vitrectomy (AV) during cataract surgery had significantly better final visual acuity compared with eyes that did not undergo these procedures.ConclusionsIn children with posttraumatic cataracts, final visual acuity was not affected by patient age and gender; trauma type, cause, and zone; duration between the time of trauma and cataract surgery; surgical method used; and time, location, and type of intraocular lens (IOL) implantation. Improvements in the final BCVA could be seen only by PC + AV combined with lens aspiration with or without IOL implantation. However, this approach of amblyopia treatment needs to be confirmed by more comprehensive and prospective studies.
| S-EPMC9063203 | biostudies-literature
Project description:IntroductionCoronavirus disease 2019 (COVID-19) pandemic, is a newly conducted respiratory disease caused by infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV2). The current study aims to estimate the neurological diseases which develop after COVID-19 infection.MethodThis is a single center retrospective case series conducted in seven months. the patients were collected in an out-patient clinic. Diagnosis of COVID-19 and the way of diagnosis is confirmed through either polymerase chain reaction (PCR) test for COVID-19 and/or typical findings on chest computed tomography scan (CT scan). Patients developed neurological symptoms after being infected with COVID-19. Symptoms have to be developed within less than 6 months of recovery, or developed during illness and persisted after recovery.ResultA total number of 59 patients infected with SARS-CoV2 were included. The majority of the patients had mild symptoms 32 (54%), 12 (20%) patients developed severe symptoms. Headache was the most common presenting symptom 27(46%) followed by fatigue in 8 (13.5%). The majority of the patients 55 (91.6%) presented with no focal signs. MRI was done for 27 (46%) patients without abnormal finding in 22 cases. Nearly 22 (37.3%) cases were diagnosed as recurrent episodes of migraine or new onset of migraine. All patients were managed according to the underlying pathology, only (28, 47.5%) patients were known to be completely recovered.ConclusionSARS-CoV2 can invade and cause inflammation in the central and peripheral nervous systems. It is responsible for many neurological problems. More studies are necessary to analyze the long term effect of the virus on the nervous system.
| S-EPMC8957714 | biostudies-literature
Project description:Amyloidosis of the gastrointestinal tract, with biopsy-proven disease, is rare. We reviewed a series of patients who presented with biopsy-proven gastrointestinal amyloidosis and report their clinical characteristics, treatments, and survival. This is a retrospective review of data prospectively collected from January 1998 to December 2011 in a tertiary referral center; 2,334 patients with all types of amyloidosis were evaluated during this period. Seventy-six patients (3.2%) had biopsy-proven amyloid involvement of the gastrointestinal tract. Their median age was 61 years (range, 34-79). Systemic amyloidosis with dominant gastrointestinal involvement was present in 60 (79%) patients, whereas the other 16 (21%) patients had amyloidosis localized to the gastrointestinal tract without evidence of an associated plasma cell dyscrasia or other organ involvement. Of the 60 systemic cases, 50 (83%) had immunoglobulin light-chain, five (8%) had familial lysozyme, three (5%) had wild-type transthyretin, and two (3%) had mutant transthyretin amyloidosis. The most frequent symptoms for all patients were weight loss in 33 (45%) and gastrointestinal bleeding in 27 (36%). Incidental identification of amyloidosis on routine endoscopic surveillance played a role in the diagnosis of seven patients with systemic immunoglobulin light-chain, and four patients with immunoglobulin light-chain localized to the gastrointestinal tract. Amyloid protein subtyping was performed in 12 of the cases of localized disease, and all had lambda light chain disease. Of the 50 patients with systemic immunoglobulin light-chain amyloidosis, 45 were treated with anti-plasma cell therapy. The median survival has not been reached for this group. For the 16 patients with localized gastrointestinal amyloidosis, supportive care was the mainstay of treatment; none received anti-plasma cell therapy. All 16 are alive at a median follow-up of 36 months (range, 1-143). Patients with biopsy-proven gastrointestinal amyloidosis often present with weight loss and bleeding. In localized cases, all that underwent typing were due to lambda light chain amyloidosis and none progressed to systemic disease during the period of follow-up. Most patients with systemic disease had immunoglobulin light-chain, and their tolerance of therapy and median survival were excellent. Although a rare manifestation of amyloidosis, staining for amyloid should be considered in patients undergoing gastrointestinal biopsy who have unexplained chronic gastrointestinal symptoms.
| S-EPMC3533676 | biostudies-literature
Project description: Not available
| S-EPMC9629883 | biostudies-literature
Project description:BackgroundGrowing consideration is emerging regarding the burden of persisting sequelae after SARS-CoV-2 infection. Out-patients exhibiting long Covid may benefit from ambulatory rehabilitation which is, to date, poorly documented.MethodsA longitudinal follow-up over a one-year period was conducted in two ambulatory rehabilitation structures in order to describe the characteristics of real-life patients referred with Covid-19 sequelae and their evolution over the course of rehabilitation.Results39 consecutive patients were included from April 1st, 2020 to April 1st, 2021. Patients were middle-aged (48 ± 15yr), without comorbidities, and mostly mild to moderate SARS-CoV-2 infection (25(64%) not requiring hospitalisation). Rehabilitation referral was considered with a median delay of 73[34-178] days after disease onset. Most prevalent symptoms were dyspnoea (n = 35(90%)) and fatigue (n = 30(77%)). Hyperventilation syndrome was highly frequent (n = 12(34%)). 29(74%) patients presented with prolonged functional sequelae, which was associated with younger age (43 ± 14 vs. 50 ± 10yr; p = 0.002), greater prevalence of hyperventilation syndrome (n = 12(41%) vs. 0(0%); p = 0.255) and poorer quality of life (VQ-11; 31 ± 10 vs. 23 ± 9; p = 0.030). Over the course of rehabilitation, exertional dyspnoea, 6-min walking distance, 3-min sit-to-stand test, hyperventilation syndrome prevalence and quality of life significantly improved.ConclusionHyperventilation is frequent in long Covid and may explain persistent dyspnoea as well as altered quality of life. Our data support screening of hyperventilation syndrome and functional impairment in mild Covid-19 out-patients as both of these components may improve with ambulatory rehabilitation.
| S-EPMC8511554 | biostudies-literature