scholarly journals Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series

2021 ◽  
Vol 12 ◽  
Author(s):  
Zhenchu Tang ◽  
Shan Gao ◽  
Miao He ◽  
Qihua Chen ◽  
Jia Fang ◽  
...  
Keyword(s):  
Late Onset ◽  
Case Series ◽  
Outcome Data ◽  
Exercise Intolerance ◽  
Lipid Storage Myopathy ◽  
Genetic Characteristics ◽  
Pathogenic Variants ◽  
Clinical Presentations ◽  
High Level ◽  
Almost All

Background: Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by ETFDH mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical presentations and genetic characteristics of five LO-MADD patients.Methods: From 2018 to 2021, we collected clinical and genetic data on five patients diagnosed with LO-MADD at our hospital and retrospectively analyzed their clinical characteristics, laboratory examination, electromyography, muscle biopsy, genetic analysis, and outcome data.Results: This study included three males and two females with mean onset age of 37.8 years. Fluctuating exercise intolerance was the most common presentation. Serum creatine kinase (CK) levels were significantly elevated in all patients, and plasma acylcarnitine profiles revealed an increase in long-chain acylcarnitine species in three cases. The urinary organic acid study revealed a high level of hydroxyglutaric acid in all patients. Electrophysiology demonstrated myogenic impairment. Muscle biopsies revealed lipid storage myopathy. Molecular analysis identified nine mutations (three novels and six reported) in ETFDH. Exercise intolerance and muscle weakness were dramatically improved in all patients treated with riboflavin (100 mg) daily following diagnosis.Conclusions: LO-MADD is caused by ETFDH variants and responds well to riboflavin. Three novel ETFDH pathogenic variants were identified, expanding their spectrum in the Chinese population and facilitating future interpretation and analysis of ETFDH mutations.

scholarly journals Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Yiming Zheng ◽  
Yawen Zhao ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Elderly Patient ◽  
Muscle Weakness ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Lipid Storage ◽  
Exercise Intolerance ◽  
Lipid Storage Myopathy ◽  
Case Presentation ◽  
Acylcarnitine Profile ◽  
Progressive Weakness

Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions MADD should be considered when evaluating elderly patients with subacute muscle weakness.

scholarly journals Laparoscopic Anterior 180° Partial Fundoplication - Indian Perspective

2021 ◽  
Vol 7 (3) ◽  
pp. 22-29
Author(s):  
Dr. Biswabasu Das ◽  
◽  
Dr. Sandeep Sahu ◽  
Dr. Radhakrishna Y ◽  
Bibhabasu Das ◽  
...  
Keyword(s):  
Adverse Effects ◽  
Clinical Outcome ◽  
Tertiary Care ◽  
Case Series ◽  
Outcome Data ◽  
High Rate ◽  
Partial Fundoplication ◽  
Tertiary Care Centers ◽  
Almost All

Aim: To evaluate Laparoscopic anterior 180° partial fundoplication for its good long-term relief forsymptoms of gastroesophageal reflux disease and association with adverse effects. Methods:Study design: Prospectively evaluated case series. Settings: Tertiary care centers Patients: Theclinical outcomes were determined for all patients who had undergone a laparoscopic anterior partialfundoplication by us between January 1, 2013 to March 31, 2021. Interventions: Clinical outcome,complications, and follow-up after laparoscopic anterior 180° partial fundoplication was obtainedusing a structured questionnaire. Results and Discussion: 228 procedures were performed. Theoutcome at 0 to 8 years (mean, 4 years) follow-up was determined for 195 patients. 1 death waslinked to the laparoscopic procedure and 2 patients died during follow-up due to unrelated causes.For 186 patients (95%) with clinical outcome data at late follow-up, gastroesophageal refluxsymptoms were significantly improved following surgery and were well controlled in 9 patients(4.5%). In a subset of 85 patients with more than 5 years of follow-up, relief of heartburn was foundin 59 patients (69%). Incidence and severity of heartburn were reduced after surgery in 22 patients(26%), decreased dyspepsia in 80 patients (94%). Normal belching was preserved in 84 patients(99%) and almost all patients were able to eat normally. Conclusion: Laparoscopic anterior 180°partial fundoplication is an effective procedure for the surgical treatment of gastroesophageal refluxand is associated with a high rate of patient satisfaction at late follow-up. Compared to Nissen'sfundoplication it is as good as control of recurrent reflux as well as reduced adverse effects. Thepatient goes home in 3-4 days. Hence we recommend it as the procedure of choice for refluxsymptoms.

DFT Benchmark Study of the O--O Bond Dissociation Energy in Peroxides Validated with High-Level Ab-Initio Calculations

2019 ◽  
Author(s):  
Danilo Carmona ◽  
Pablo Jaque ◽  
Esteban Vöhringer-Martinez
Keyword(s):  
Reference Value ◽  
Basis Set ◽  
Basis Sets ◽  
Mean Deviation ◽  
Bond Dissociation ◽  
Dissociation Energies ◽  
The Mean ◽  
Experimental Values ◽  
High Level ◽  
Almost All

<div><div><div><p>Peroxides play a central role in many chemical and biological pro- cesses such as the Fenton reaction. The relevance of these compounds lies in the low stability of the O–O bond which upon dissociation results in radical species able to initiate various chemical or biological processes. In this work, a set of 64 DFT functional-basis set combinations has been validated in terms of their capability to describe bond dissociation energies (BDE) for the O–O bond in a database of 14 ROOH peroxides for which experimental values ofBDE are available. Moreover, the electronic contributions to the BDE were obtained for four of the peroxides and the anion H2O2− at the CBS limit at CCSD(T) level with Dunning’s basis sets up to triple–ζ quality provid- ing a reference value for the hydrogen peroxide anion as a model. Almost all the functionals considered here yielded mean absolute deviations around 5.0 kcal mol−1. The smallest values were observed for the ωB97 family and the Minnesota M11 functional with a marked basis set dependence. Despite the mean deviation, order relations among BDE experimental values of peroxides were also considered. The ωB97 family was able to reproduce the relations correctly whereas other functionals presented a marked dependence on the chemical nature of the R group. Interestingly, M11 functional did not show a very good agreement with the established order despite its good performance in the mean error. The obtained results support the use of similar validation strategies for proper prediction of BDE or other molecular properties by DF Tmethods in subsequent related studies.</p></div></div></div>

Epidemiology and Antifungal Susceptibility in Patients with Candidemia in a University Hospital, Thailand

2020 ◽  
Vol 103 (10) ◽  
pp. 1048-1056
Keyword(s):  
Antifungal Susceptibility ◽  
Underlying Disease ◽  
Outcome Data ◽  
Adult Patients ◽  
Antifungal Treatment ◽  
University Hospital ◽  
Fluconazole Resistance ◽  
Fluconazole Therapy ◽  
Fluconazole Resistant ◽  
High Level

Background: Candidemia is the most common nosocomial invasive fungal infection that causes high mortality. Emergence of drug-resistant Candida is reported worldwide but there are few studies in Thailand. Objective: To determine the epidemiology, antifungal susceptibility of Candida, and outcomes among adult patients with candidemia. Materials and Methods: A prospective, observational study in adult patients with candidemia was conducted in 2015 at a university hospital. Demographic, microbiological, and outcome data were recorded. Results: Fifty-two patients with candidemia were identified, of whom 76.9% had an underlying disease and 69.2% had risks for candidemia. Sixty-four percent of candidemia patients contracted non-albicans Candida and 36% had Candida albicans. C. tropicalis was the most common non-albicans Candida species isolated (35%), followed by C. parapsilosis (19%), and C. glabrata (10%). Fluconazole resistance was found in 12.5% of C. albicans and in 11.1% of C. parapsilosis isolates. Reduced fluconazole susceptibility or high-level fluconazole resistance was found in 68.7% of C. tropicalis isolates. All except C. parapsilosis had excellent susceptibility to echinocandins. Seventy-three percent (38/52) of patients received antifungal treatment, of whom, 78.9% received empiric fluconazole therapy, and 89.7% were started on antifungal treatment 24 hours after the isolation of Candida. The overall mortality rate was 51.9%. Conclusion: Fluconazole-resistant Candida became more prevalent particularly in C. tropicalis, which was the predominant species among non-albicans Candida causing candidemia. Empiric treatment with either amphotericin B or echinocandins would be appropriate in high-risk patients with suspected candidemia. Trial registration: Thai Clinical Trials Registry, TCTR20150605001 Keywords: Candida, Fluconazole, Resistant, Thailand

Methyl mercury in the dutch rhine delta

1994 ◽  
Vol 30 (10) ◽  
pp. 213-219 ◽  
Author(s):  
Hendrik Pieters ◽  
Victor Geuke
Keyword(s):  
Suspended Matter ◽  
Methyl Mercury ◽  
Mercury Contamination ◽  
Benthic Organisms ◽  
Considerable Decrease ◽  
Continuous Sedimentation ◽  
Highly Correlated ◽  
High Level ◽  
Almost All

Samples of yellow eel from various locations in the Dutch Rhine area have been analyzed for trend monitoring of mercury since 1977. In the western Rhine delta mercury levels in eels have hardly changed since the seventies, whereas in the eastern part of the Dutch Rhine area a considerable decrease of mercury concentrations in eel has occurred. Because of continuous sedimentation of contaminated suspended matter transported from upstream regions, accumulation rates and concentrations of mercury in eel in the western Rhine delta remained at a relatively high level. Analyses of methyl mercury in biota have been performed to elucidate the role of methyl mercury in the mercury contamination of the Dutch Rhine ecosystem. Low percentages of methyl mercury were observed in zooplankton (3 to 35%). In benthic organisms (mussels) percentages of methyl mercury ranged from 30 to 57%, while in fish species and liver of aquatic top predator birds almost all the mercury was present in the form of methyl mercury (&gt; 80%). During the period 1970-1990 mercury concentrations of suspended matter in the eastern Rhine delta have drastically decreased. These concentrations seemed to be highly correlated with mercury concentrations of eel (R = 0.84). The consequences of this relation are discussed.

Case Series With Late-Onset Psychosis Hospitalized in a Geriatric Psychiatry Unit in Turkey: Experience in 9 Years

2003 ◽  
Vol 15 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Yesne Alici-Evcimen ◽  
Turan Ertan ◽  
Engin Eker
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Case Series ◽  
Geriatric Psychiatry ◽  
Delusional Disorder ◽  
Early Onset Schizophrenia ◽  
Treatment Results ◽  
Thought Insertion ◽  
Psychiatry Department ◽  
Paranoid Psychosis

In this article we report the first series of Turkish inpatients with late-onset psychosis, and describe our 9-year experience at the only inpatient geriatric psychiatry department in Turkey. Among 420 patients hospitalized between 1993 and 2002, 27 were psychotic. In this group, eight patients were diagnosed as having late-onset schizophrenia (LOS) and six very-late-onset schizophrenia-like psychosis (VLOSLP). Five patients had early-onset schizophrenia and eight had delusional disorder. Females were more frequently seen in the group with LOS and the group with VLOSLP. Except for one patient with LOS, all patients with VLOSLP and LOS had paranoid psychosis. Nihilistic delusions, delusions of poverty or guilt, thought withdrawal, thought insertion, and thought broadcasting were not seen in any of the patients. Additionally, none of the LOS or VLOSLP patients showed erotomanic delusions. Grandiose and mystic delusions were not seen in those with VLOSLP. Treatment results and antipsychotic dosages at discharge were similar to those in previous reports from other cultures.

scholarly journals Characteristics and Outcomes Among Hospitalized COVID-19-Positive Patients in a Nonurban Environment

2021 ◽  
Author(s):  
Robert P Lennon ◽  
Theodore J Demetriou ◽  
M Fahad Khalid ◽  
Lauren Jodi Van Scoy ◽  
Erin L Miller ◽  
...  
Keyword(s):  
New York ◽  
Medical Center ◽  
Academic Medical Center ◽  
Military Medicine ◽  
Case Series ◽  
Outcome Data ◽  
Urban Environments ◽  
Urban Setting ◽  
Published Data ◽  
Retrospective Case

ABSTRACT Introduction Virtually all hospitalized coronavirus disease-2019 (COVID-19) outcome data come from urban environments. The extent to which these findings are generalizable to other settings is unknown. Coronavirus disease-2019 data from large, urban settings may be particularly difficult to apply in military medicine, where practice environments are often semi-urban, rural, or austere. The purpose of this study is compare presenting characteristics and outcomes of U.S. patients with COVID-19 in a nonurban setting to similar patients in an urban setting. Materials and Methods This is a retrospective case series of adults with laboratory-confirmed COVID-19 infection who were admitted to Hershey Medical Center (HMC), a 548-bed tertiary academic medical center in central Pennsylvania serving semi-urban and rural populations, from March 23, 2020, to April 20, 2020 (the first month of COVID-19 admissions at HMC). Patients and outcomes of this cohort were compared to published data on a cohort of similar patients from the New York City (NYC) area. Results The cohorts had similar age, gender, comorbidities, need for intensive care or mechanical ventilation, and most vital sign and laboratory studies. The NYC’s cohort had shorter hospital stays (4.1 versus 7.2 days, P &lt; .001) but more African American patients (23% versus 12%, P = .02) and higher prevalence of abnormal alanine (&gt;60U/L; 39.0% versus 5.9%, P &lt; .001) and aspartate (&gt;40U/L; 58.4% versus 42.4%, P = .012) aminotransferase, oxygen saturation &lt;90% (20.4% versus 7.2%, P = .004), and mortality (21% versus 1.4%, P &lt; .001). Conclusions Hospitalists in nonurban environments would be prudent to use caution when considering the generalizability of results from dissimilar regions. Further investigation is needed to explore the possibility of reproducible causative systemic elements that may help improve COVID-19-related outcomes. Broader reports of these relationships across many settings will offer military medical planners greater ability to consider outcomes most relevant to their unique settings when considering COVID-19 planning.

Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yiming Lin ◽  
Weifeng Zhang ◽  
Zhixu Chen ◽  
Chunmei Lin ◽  
Weihua Lin ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Genetic Analysis ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
False Negative ◽  
Tandem Mass ◽  
Lipid Storage Myopathy ◽  
Molecular Features

Abstract Objectives Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid and choline metabolism. Late-onset MADD is caused by ETFDH mutations and is the most common lipid storage myopathy in China. However, few patients with MADD have been identified through newborn screening (NBS). This study assessed the acylcarnitine profiles and molecular features of patients with MADD identified through NBS. Methods From January 2014 to June 2020, 479,786 newborns screened via tandem mass spectrometry were recruited for this study. Newborns with elevated levels of multiple acylcarnitines were recalled, those who tested positive in the reassessment were referred for genetic analysis. Results Of 479,786 newborns screened, six were diagnosed with MADD. The MADD incidence in the Chinese population was estimated to be 1:79,964. Initial NBS revealed five patients with typical elevations in the levels of multiple acylcarnitines; however, in one patient, acylcarnitine levels were in the normal reference range during recall. Notably, one patient only exhibited a mildly increased isovalerylcarnitine (C5) level at NBS. The patient with an atypical acylcarnitine profile was diagnosed with MADD by targeted gene sequencing. Six distinct ETFDH missense variants were identified, with the most common variant being c.250G>A (p.A84T), with an allelic frequency of 58.35 (7/12). Conclusions These findings revealed that it is easy for patients with MADD to go unidentified, as they may have atypical acylcarnitine profiles at NBS and the recall stage, indicating the value of genetic analysis for confirming suspected inherited metabolic disorders in the NBS program. Therefore, false-negative (FN) results may be reduced by combining tandem mass spectrometry (MS/MS) with genetic testing in NBS for MADD.

scholarly journals Should we care about Plasmodium vivax and HIV co-infection? A systematic review and a cases series from the Brazilian Amazon

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Paola López Del-Tejo ◽  
Nadia Cubas-Vega ◽  
Cecilia Caraballo-Guerra ◽  
Bernardo Maia da Silva ◽  
Jefferson da Silva Valente ◽  
...  
Keyword(s):  
Systematic Review ◽  
Plasmodium Vivax ◽  
Vivax Malaria ◽  
Tertiary Care ◽  
Case Series ◽  
Brazilian Amazon ◽  
Outcome Data ◽  
Malaria Episode ◽  
Tertiary Care Centre ◽  
Cross Sectional

Abstract Background Malaria and HIV are two important public health issues. However, evidence on HIV-Plasmodium vivax co-infection (HIV/PvCo) is scarce, with most of the available information related to Plasmodium falciparum on the African continent. It is unclear whether HIV can change the clinical course of vivax malaria and increase the risk of complications. In this study, a systematic review of HIV/PvCo studies was performed, and recent cases from the Brazilian Amazon were included. Methods Medical records from a tertiary care centre in the Western Brazilian Amazon (2009–2018) were reviewed to identify HIV/PvCo hospitalized patients. Demographic, clinical and laboratory characteristics and outcomes are reported. Also, a systematic review of published studies on HIV/PvCo was conducted. Metadata, number of HIV/PvCo cases, demographic, clinical, and outcome data were extracted. Results A total of 1,048 vivax malaria patients were hospitalized in the 10-year period; 21 (2.0%) were HIV/PvCo cases, of which 9 (42.9%) had AIDS-defining illnesses. This was the first malaria episode in 11 (52.4%) patients. Seven (33.3%) patients were unaware of their HIV status and were diagnosed on hospitalization. Severe malaria was diagnosed in 5 (23.8%) patients. One patient died. The systematic review search provided 17 articles (12 cross-sectional or longitudinal studies and 5 case report studies). A higher prevalence of studies involved cases in African and Asian countries (35.3 and 29.4%, respectively), and the prevalence of reported co-infections ranged from 0.1 to 60%. Conclusion Reports of HIV/PvCo are scarce in the literature, with only a few studies describing clinical and laboratory outcomes. Systematic screening for both co-infections is not routinely performed, and therefore the real prevalence of HIV/PvCo is unknown. This study showed a low prevalence of HIV/PvCo despite the high prevalence of malaria and HIV locally. Even though relatively small, this is the largest case series to describe HIV/PvCo.

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