scholarly journals Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Amelie S. Lotz-Havla ◽  
Katharina J. Weiß ◽  
Katharina A. Schiergens ◽  
Theresa Brunet ◽  
Jürgen Kohlhase ◽  
...  
Keyword(s):  
Infusion Pump ◽  
Multiple Organ ◽  
Target Range ◽  
Inherited Disorders ◽  
Intramuscular Injections ◽  
Organ Systems ◽  
Portable Pump ◽  
Syringe Driver ◽  
Total Homocysteine

Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone marrow. To date, the parenteral, generally intramuscular, lifelong administration of hydroxycobalamin (OHCbl) is the mainstay of therapy in these disorders. The dosage and frequency of OHCbl is titrated in each patient to the minimum effective dose in order to account for the painful injections. This may result in undertreatment, a possible risk factor for disease progression and disease-related complications. Results We describe parenteral administration of OHCbl using a subcutaneous catheter together with a portable infusion pump in a home therapy setting in four pediatric patients with remethylation disorders, two patients with cblC, one patient with cblG, and one patient with cblE deficiency, in whom intramuscular injections were not or no longer feasible. The placement of the subcutaneous catheters and handling of the infusion pump were readily accomplished and well accepted by the patients and their families. No adverse events occurred. The use of a small, portable syringe driver pump allowed for a most flexible administration of OHCbl in everyday life. The concentrations of total homocysteine levels were determined at regular patient visits and remained within the therapeutic target range. This approach allowed for the continuation of OHCbl therapy or the adjustment of therapy required to improve metabolic control in our patients. Conclusions Subcutaneous infusion using a subcutaneous catheter system and a portable pump for OHCbl administration in combined and isolated remethylation disorders is safe, acceptable, and effective. It decreases disease burden in preventing frequent single injections and providing patient independence. Thus, it may promote long-term adherence to therapy in patients and parents.

scholarly journals Neurological, neuropsychiatric and neurodevelopmental complications of COVID-19

2020 ◽  
pp. 000486742096147
Author(s):  
Christos Pantelis ◽  
Mahesh Jayaram ◽  
Anthony J Hannan ◽  
Robb Wesselingh ◽  
Jess Nithianantharajah ◽  
...  
Keyword(s):  
Organ Damage ◽  
Multiple Organ ◽  
Global Pandemic ◽  
Organ Systems ◽  
Future Challenges ◽  
The Central Nervous System ◽  
The Impact ◽  
Collaborative Efforts ◽  
The Brain

Although COVID-19 is predominantly a respiratory disease, it is known to affect multiple organ systems. In this article, we highlight the impact of SARS-CoV-2 (the coronavirus causing COVID-19) on the central nervous system as there is an urgent need to understand the longitudinal impacts of COVID-19 on brain function, behaviour and cognition. Furthermore, we address the possibility of intergenerational impacts of COVID-19 on the brain, potentially via both maternal and paternal routes. Evidence from preclinical models of earlier coronaviruses has shown direct viral infiltration across the blood–brain barrier and indirect secondary effects due to other organ pathology and inflammation. In the most severely ill patients with pneumonia requiring intensive care, there appears to be additional severe inflammatory response and associated thrombophilia with widespread organ damage, including the brain. Maternal viral (and other) infections during pregnancy can affect the offspring, with greater incidence of neurodevelopmental disorders, such as autism, schizophrenia and epilepsy. Available reports suggest possible vertical transmission of SARS-CoV-2, although longitudinal cohort studies of such offspring are needed. The impact of paternal infection on the offspring and intergenerational effects should also be considered. Research targeted at mechanistic insights into all aspects of pathogenesis, including neurological, neuropsychiatric and haematological systems alongside pulmonary pathology, will be critical in informing future therapeutic approaches. With these future challenges in mind, we highlight the importance of national and international collaborative efforts to gather the required clinical and preclinical data to effectively address the possible long-term sequelae of this global pandemic, particularly with respect to the brain and mental health.

scholarly journals HCMV Infection and Apoptosis: How Do Monocytes Survive HCMV Infection?

Viruses ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 533 ◽  
Author(s):  
Donna Collins-McMillen ◽  
Liudmila Chesnokova ◽  
Byeong-Jae Lee ◽  
Heather Fulkerson ◽  
Reynell Brooks ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cell Survival ◽  
Hcmv Infection ◽  
Viral Gene Expression ◽  
Multiple Organ ◽  
Viral Gene ◽  
Blood Monocytes ◽  
Induced Differentiation ◽  
Organ Systems

Human cytomegalovirus (HCMV) infection of peripheral blood monocytes plays a key role in the hematogenous dissemination of the virus to multiple organ systems following primary infection or reactivation of latent virus in the bone marrow. Monocytes have a short life span of 1–3 days in circulation; thus, HCMV must alter their survival and differentiation to utilize these cells and their differentiated counterparts—macrophages—for dissemination and long term viral persistence. Because monocytes are not initially permissive for viral gene expression and replication, HCMV must control host-derived factors early during infection to prevent apoptosis or programmed cell death prior to viral induced differentiation into naturally long-lived macrophages. This review provides a short overview of HCMV infection of monocytes and describes how HCMV has evolved to utilize host cell anti-apoptotic pathways to allow infected monocytes to bridge the 48–72 h viability gate so that differentiation into a long term stable mature cell can occur. Because viral gene expression is delayed in monocytes following initial infection and only occurs (begins around two to three weeks post infection in our model) following what appears to be complete differentiation into mature macrophages or dendritic cells, or both; virally-encoded anti-apoptotic gene products cannot initially control long term infected cell survival. Anti-apoptotic viral genes are discussed in the second section of this review and we argue they would play an important role in long term macrophage or dendritic cell survival following infection-induced differentiation.

scholarly journals The Role of MSC Therapy in Attenuating the Damaging Effects of the Cytokine Storm Induced by COVID-19 on the Heart and Cardiovascular System

2020 ◽  
Vol 7 ◽  
Author(s):  
Georgina M. Ellison-Hughes ◽  
Liam Colley ◽  
Katie A. O'Brien ◽  
Kirsty A. Roberts ◽  
Thomas A. Agbaedeng ◽  
...  
Keyword(s):  
Cardiovascular System ◽  
Cardiovascular Complications ◽  
Multiple Organ ◽  
Cytokine Storm ◽  
Cell Therapies ◽  
Tissue Repair And Regeneration ◽  
Global Pandemic ◽  
Organ Systems

The global pandemic of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19) has led to 47 m infected cases and 1. 2 m (2.6%) deaths. A hallmark of more severe cases of SARS-CoV-2 in patients with acute respiratory distress syndrome (ARDS) appears to be a virally-induced over-activation or unregulated response of the immune system, termed a “cytokine storm,” featuring elevated levels of pro-inflammatory cytokines such as IL-2, IL-6, IL-7, IL-22, CXCL10, and TNFα. Whilst the lungs are the primary site of infection for SARS-CoV-2, in more severe cases its effects can be detected in multiple organ systems. Indeed, many COVID-19 positive patients develop cardiovascular complications, such as myocardial injury, myocarditis, cardiac arrhythmia, and thromboembolism, which are associated with higher mortality. Drug and cell therapies targeting immunosuppression have been suggested to help combat the cytokine storm. In particular, mesenchymal stromal cells (MSCs), owing to their powerful immunomodulatory ability, have shown promise in early clinical studies to avoid, prevent or attenuate the cytokine storm. In this review, we will discuss the mechanistic underpinnings of the cytokine storm on the cardiovascular system, and how MSCs potentially attenuate the damage caused by the cytokine storm induced by COVID-19. We will also address how MSC transplantation could alleviate the long-term complications seen in some COVID-19 patients, such as improving tissue repair and regeneration.

scholarly journals Critical clinical situations in adult patients with Mucopolysaccharidosis (MPS)

2019 ◽  
Author(s):  
Karolina M Stepien ◽  
A. K. Gevorkyan ◽  
Christian J Hendriksz ◽  
T V Lobzhanidze ◽  
J Pérez-López ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
High Risk ◽  
Surgical Procedures ◽  
Postoperative Care ◽  
Multiple Organ ◽  
Adult Patients ◽  
Systems Management ◽  
Inherited Disorders ◽  
Organ Systems ◽  
Age Range

Abstract Background: Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this can result in a range of critical clinical situations in adult patients. Results: We discuss strategies to prepare for and manage critical clinical situations in adult patients with MPS, including supporting the multidisciplinary team, preoperative and airway assessments, surgical preparations, and postoperative care. We also present eight critical clinical cases (age range: 21–38 years) from four leading inherited metabolic disease centres in Europe to highlight challenges and practical solutions to optimise the care of adult patients with MPS. Critical clinical situations included surgical procedures, pregnancy and a thrombus in a port-a-cath. Conclusions: Individualised strategies to manage critical clinical situations need to be developed for each patient to compensate for the heterogeneous symptoms that may be present and the potential complications that may occur. These strategies should include input from the wider MDT, and be coordinated by metabolic specialists with expertise in the management of MPS disorders and surgery in adult patients with MPS.

scholarly journals Effect of chronic JUUL aerosol inhalation on inflammatory states of the brain, lung, heart and colon in mice

2021 ◽  
Author(s):  
Alex Moshensky ◽  
Cameron Brand ◽  
Hasan Alhaddad ◽  
John Shin ◽  
Jorge A. Masso-Silva ◽  
...  
Keyword(s):  
Gene Expression ◽  
Inflammatory Responses ◽  
Multiple Organ ◽  
Cardiac Inflammation ◽  
Aerosol Inhalation ◽  
Organ Systems ◽  
Inflammatory State ◽  
Reward Pathways ◽  
Systemic Health

AbstractWhile health effects of conventional tobacco are well defined, data on vaping devices, including the most popular e-cigarette JUUL, are less established. Prior acute e-cigarette studies demonstrated inflammatory and cardiopulmonary physiology changes while chronic studies demonstrated extra-pulmonary effects, including neurotransmitter alterations in reward pathways. In this study we investigated effects of chronic flavored JUUL aerosol inhalation on inflammatory markers in brain, lung, heart, and colon. JUUL induced upregulation of cytokine and chemokine gene expression and increased HMGB1 and RAGE in the nucleus accumbens. Inflammatory gene expression increased in colon, and cardiopulmonary inflammatory responses to acute lung injury with lipopolysaccharide were exacerbated in the heart. Flavor-dependent changes in several responses were also observed. Our findings raise concerns regarding long-term risks of e-cigarette use as neuroinflammation may contribute to behavioral changes and mood disorders, while gut inflammation has been tied to poor systemic health and cardiac inflammation to development of heart disease.One Sentence SummaryChronic, daily inhalation of pod-based e-cigarette aerosols alters the inflammatory state across multiple organ systems in mice.

scholarly journals Characterizing Long COVID: Deep Phenotype of a Complex Condition

2021 ◽  
Author(s):  
Rachel R Deer ◽  
Madeline A Rock ◽  
Nicole Vasilevsky ◽  
Leigh C Carmody ◽  
Halie M Rando ◽  
...  
Keyword(s):  
Meta Analysis ◽  
Clinical Manifestations ◽  
Analysis Data ◽  
Clinical Findings ◽  
Multiple Organ ◽  
Diverse Range ◽  
Human Phenotype ◽  
Organ Systems ◽  
Novel Coronavirus

Importance: Since late 2019, the novel coronavirus SARS-CoV-2 has given rise to a global pandemic and introduced many health challenges with economic, social, and political consequences. In addition to a complex acute presentation that can affect multiple organ systems, there is mounting evidence of various persistent long-term sequelae. The worldwide scientific community is characterizing a diverse range of seemingly common long-term outcomes associated with SARS-CoV-2 infection, but the underlying assumptions in these studies vary widely making comparisons difficult. Numerous publications describe the clinical manifestations of post-acute sequelae of SARS-CoV-2 infection (PASC or long COVID), but they are difficult to integrate because of heterogeneous methods and the lack of a standard for denoting the many phenotypic manifestations of long COVID. Observations: We identified 303 articles published before April 29, 2021, curated 59 relevant manuscripts that described clinical manifestations in 81 cohorts of individuals three weeks or more following acute COVID-19, and mapped 287 unique clinical findings to Human Phenotype Ontology (HPO) terms. Conclusions and Relevance: Patients and clinicians often use different terms to describe the same symptom or condition. Addressing the heterogeneous and inconsistent language used to describe the clinical manifestations of long COVID combined with the lack of standardized terminologies for long COVID will provide a necessary foundation for comparison and meta-analysis of different studies. Translating long COVID manifestations into computable HPO terms will improve the analysis, data capture, and classification of long COVID patients. If researchers, clinicians, and patients share a common language, then studies can be compared or pooled more effectively. Furthermore, mapping lay terminology to HPO for long COVID manifestations will help patients assist clinicians and researchers in creating phenotypic characterizations that are computationally accessible, which may improve the stratification and thereby diagnosis and treatment of long COVID.

scholarly journals Growing up with spina bifida: bridging the gaps in the transition of care from childhood to adulthood

2019 ◽  
Vol 47 (4) ◽  
pp. E16 ◽  
Author(s):  
Smruti K. Patel ◽  
Brittany Staarmann ◽  
Alexander Heilman ◽  
Allie Mains ◽  
Jason Woodward ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Transitional Care ◽  
Personal Communication ◽  
Multiple Organ ◽  
Permanent Disability ◽  
Term Survival ◽  
Surgical Interventions ◽  
Complex Needs ◽  
Organ Systems

Spina bifida is the most common nonchromosomal birth defect, resulting in permanent disability of multiple organ systems, yet compatible with long-term survival. Important advances across various disciplines have now improved survival among the spina bifida population. Although the majority of individuals living with spina bifida are now adults, there are few publications in the neurosurgical literature regarding the care of adults with spina bifida, associated medical conditions, surgical interventions, and long-term complications. The major goals for transitioning adult patients with spina bifida are preservation of function and promotion of independence as well as general overall health. Nevertheless, many gaps exist in our knowledge and understanding of the complex needs of this aging patient population. The goal of this paper was to provide a comprehensive updated review of the literature regarding the challenges and considerations involved in the transitional care to adulthood for patients with spina bifida. Unique to this review, the authors provide a first-hand personal communication and interview with an adult patient with spina bifida that discusses many of these challenges with transition.

Decreased oxygen exposure during transportation of newborns

2017 ◽  
Vol 103 (3) ◽  
pp. 269-271 ◽  
Author(s):  
Chayatat Ruangkit ◽  
Sasivimon Soonsawad ◽  
Thavatchai Tutchamnong ◽  
Buranee Swatesutipun
Keyword(s):  
Tissue Injury ◽  
Multiple Organ ◽  
Antioxidant Defences ◽  
Oxygen Exposure ◽  
Species Formation ◽  
Organ Systems ◽  
Improvement Programme ◽  
Excessive Oxygen

Oxygen is the most common treatment for newborns in need of respiratory support. However, oxygen can cause tissue injury through reactive oxygen species formation, especially in premature infants with reduced antioxidant defences, and may result in short-term and long-term toxic effects in multiple organ systems. Although most hospitals have the capability to tightly control oxygen delivery to hospitalised neonates, in many circumstances, the need is overlooked during infant transport. Lack of awareness of harm or appropriate medical equipment invariably results in excessive oxygen exposure. We developed a quality improvement programme to decrease oxygen exposure to newborns during their transportation, thus improving patient safety and quality of care.

scholarly journals A rare case of long-term paraesthesia diagnosed as a paraneoplastic syndrome by anti-SOX1 antibody determination

2019 ◽  
Vol 12 (7) ◽  
pp. e228916
Author(s):  
Oriol Mirallas ◽  
Nuria Rial ◽  
Berta Martín-Cullell ◽  
Jesus Recio-Iglesias
Keyword(s):  
Lung Cancer ◽  
Cervical Lymphadenopathy ◽  
Strength Loss ◽  
Malignant Tumour ◽  
Multiple Organ ◽  
Rare Presentation ◽  
Organ Systems ◽  
Myasthenic Syndrome ◽  
Chest X Ray

Paraneoplastic syndromes (PS) are a rare presentation of cancer, most commonly associated with small cell lung cancer (SCLC), breast cancer and haematologic malignancies. The diagnosis of PS is challenging because it could affect multiple organ systems and it may present before the tumour is visible by imaging. We report a malignant tumour diagnosed in a male patient who referred long-term paraesthesia and proximal muscle strength loss. After ruling out common causes of polyneuropathy, the anti-SOX1 antibody gave light to the diagnosis. A pulmonary opacity in the upper right lobe was observed in the chest X-ray and a pulmonary tumour was later confirmed by CT scan. The biopsy of the cervical lymphadenopathy determined an SCLC, which caused a PS called Lambert-Eaton myasthenic syndrome (LEMS). Our case raises awareness of a rare PS presentation, which can be diagnosed by specific antibodies, allowing early diagnosis and treatment of lung cancer.

Chorioamnionitis-Induced Immunological Changes and Neonatal Outcome

2017 ◽  
Vol 12 (03) ◽  
pp. 157-163
Author(s):  
Said Omar ◽  
Modupe Awonuga
Keyword(s):  
Neonatal Outcome ◽  
Multiple Organ ◽  
Antimicrobial Treatment ◽  
Innate Immune ◽  
Common Complication ◽  
Organ Systems ◽  
Adverse Neonatal Outcomes ◽  
Immunological Changes ◽  
Fetal Inflammatory Response

AbstractChorioamnionitis is inflammation of the fetal membranes (chorion and amnion) which could be of microbial or nonmicrobial etiology. It is a common complication of pregnancy with significant implications for both mother and infant. It represents a spectrum of diseases, which range from histological but subclinical chorioamnionitis to funisitis and chorionic vasculitis with multiorgan involvement in the fetus. Chorioamnionitis results in the activation of the fetal innate immune system known as the fetal inflammatory response syndrome (FIRS). FIRS with or without evidence of microbial presence initiates an inflammatory cascade that has been implicated in the mechanisms responsible for the fetal injury. Such injury can result in adverse neonatal outcomes involving multiple organ systems with high perinatal and long-term morbidity and mortality. While antimicrobial treatment of chorioamnionitis is beneficial to the mother, it is unclear whether the same holds true for the fetus as the damage may already be done by the production of proinflammatory cytokines. This article reviews the immunological changes and their consequences in neonates born to mothers with chorioamnionitis.

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