scholarly journals Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns

Life ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1244
Author(s):  
Inn-Chi Lee
Keyword(s):  
Premature Death ◽  
Critical Issue ◽  
Organ System ◽  
Step Process ◽  
Seizure Disorders ◽  
Presenting Symptoms ◽  
Developmental Regression ◽  
Neurometabolic Disorders ◽  
Neurological Channelopathies

Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a critical issue as early onset seizures can mimic the presentation of neurometabolic disorders. Seizures in channelopathies can either be focal or generalized, and range in severity from benign to epileptic encephalopathies that may lead to developmental regression and eventually premature death. The presenting symptoms of channelopathies are challenging for clinicians to decipher, such that an extensive diagnostic survey through a precise step-by-step process is vital. Early diagnosis of a newborn’s disease, either as a channelopathy or neurometabolic disorder, is important for the long-term neurodevelopment of the child.

Medical Screening and Management of Eating Disorders in Adolescents

2010 ◽  
pp. 266-291
Author(s):  
Debra K. Katzman ◽  
Nuray O. Kanbur ◽  
Cathleen M. Steinegger
Keyword(s):  
Eating Disorders ◽  
Laboratory Testing ◽  
Organ System ◽  
Medical Complications ◽  
Nutritional Rehabilitation ◽  
Medical Assessment ◽  
Presenting Symptoms ◽  
Weight Restoration ◽  
Experienced Team

Eating disorders (EDs) in adolescents are serious illnesses that affect many aspects of their lives. The medical assessment includes a thorough history, physical exam, and targeted laboratory testing. EDs can cause serious medical complications in every organ system. Clinicians should be aware of medical conditions that may cause similar presenting symptoms and also be able to identify any medical complications that develop as consequence of the ED. Acute and long-term medical complications have been identified in adolescents with EDs. Medical management focuses on nutritional rehabilitation, weight restoration, and the prevention or reversal of medical complications. Treatment may occur in a variety of settings, but should be delivered by an interdisciplinary, experienced team and include the adolescent’s family.

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

2021 ◽  
pp. 088307382110065
Author(s):  
Jaehyung Lim ◽  
Brian J. Shayota ◽  
Erica Lay ◽  
Sarah H. Elsea ◽  
Mir Reza Bekheirnia ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Mitochondrial Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Restriction Pattern ◽  
Spastic Diplegia ◽  
Ethylmalonic Encephalopathy ◽  
Developmental Regression ◽  
Downstream Effects ◽  
Cystic Changes

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.

scholarly journals On the mod resc Model and the Evolution of Wolbachia Compatibility Types

Genetics ◽  
2001 ◽  
Vol 159 (4) ◽  
pp. 1415-1422 ◽  
Author(s):  
Sylvain Charlat ◽  
Claire Calmet ◽  
Hervé Merçot
Keyword(s):  
Cytoplasmic Incompatibility ◽  
Natural Populations ◽  
Evolutionary Process ◽  
Embryonic Mortality ◽  
Step Process ◽  
Zygote Development ◽  
Specific Manner

Abstract Cytoplasmic incompatibility (CI) is induced by the endocellular bacterium Wolbachia. It results in an embryonic mortality occurring when infected males mate with uninfected females. The mechanism involved is currently unknown, but the mod resc model allows interpretation of all observations made so far. It postulates the existence of two bacterial functions: modification (mod) and rescue (resc). The mod function acts in the males' germline, before Wolbachia are shed from maturing sperm. If sperm is affected by mod, zygote development will fail unless resc is expressed in the egg. Interestingly, CI is also observed in crosses between infected males and infected females when the two partners bear different Wolbachia strains, demonstrating that mod and resc interact in a specific manner: Two Wolbachia strains are compatible with each other only if they harbor the same compatibility type. Here we focus on the evolutionary process involved in the emergence of new compatibility types from ancestral ones. We argue that new compatibility types are likely to evolve under a wider range of conditions than previously thought, through a two-step process. First, new mod variants can arise by mutation and spread by drift. This is possible because mod is expressed in males and Wolbachia is transmitted by females. Second, once such a mod variant achieves a certain frequency, it can create the conditions for the deterministic invasion of a new resc variant, allowing the invasion of a new mod resc pair. Furthermore, we show that a stable polymorphism might be maintained in natural populations, allowing the long-term existence of “suicidal” Wolbachia strains.

scholarly journals Adrenal Insufficiency - Aetiology, Diagnosis and Treatment

2015 ◽  
Vol 3 (1) ◽  
pp. 36-47
Author(s):  
Nazma Akter ◽  
Nazmul Kabir Qureshi
Keyword(s):  
Quality Of Life ◽  
Adrenal Insufficiency ◽  
Presenting Symptoms ◽  
Life Saving ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Term Management

Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis. Adrenal insufficiency, first codified in 1855 by Thomas Addison, remains relevant in 2014 because of its lethal nature. Though, it is a rare disease but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia and weight loss are nonspecific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain. The diagnosis is adequately established by the 250 ?g ACTH (adrenocorticotropic hormone) stimulation test in most cases. Glucocorticoids provide life saving treatment but long-term quality of life is impaired, perhaps because therapy is not given in a physiologic way. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. It may be useful in pubertal girls, but not in adults. Monitoring of glucocorticoid-replacement is difficult due to lack of objective methods of assessment and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist. DOI: http://dx.doi.org/10.3329/dmcj.v3i1.22238 Delta Med Col J. Jan 2015; 3(1): 36-47

scholarly journals A limited review of over diagnosis methods and long-term effects in breast cancer screening

2011 ◽  
pp. 143-147
Author(s):  
Dongfeng Wu ◽  
Adriana Pérez
Keyword(s):  
Breast Cancer ◽  
Cancer Screening ◽  
Early Detection ◽  
Breast Cancer Screening ◽  
Screening Program ◽  
Critical Issue ◽  
Long Term Effects ◽  
Screening Programs ◽  
Probability Modeling

Breast cancer screening programs have been effective in detecting tumors prior to symptoms. Recently, there has been concern over the issue of over-diagnosis, that is, diagnosis of a breast cancer that does not manifest prior to death. Estimates for over-diagnosis vary, ranging from 7 to 52%. This variability may be due partially to issues associated with bias and/or incorrect inferences associated with the lack of probability modeling. A critical issue is how to evaluate the long-term effects due to continued screening. Participants in a periodic screening program can be classified into four mutually exclusive groups depending on whether individuals are diagnosed and whether their symptoms appear prior to death: True-earlydetection; No-early-detection; Over-diagnosis; and Not-sonecessary. All initially superficially healthy people will eventually fall into one of these four categories. This manuscript reviews the major methodologies associated with the over-diagnosis and long-term effects of breast cancer screening.

Long-term structural monitoring of multi-story RC structures, based on data extracted from ambient noise and earthquake vibrations

2021 ◽  
Author(s):  
Alexandru Tiganescu ◽  
Bogdan Grecu ◽  
Iolanda-Gabriela Craifaleanu ◽  
Dragos Toma-Danila ◽  
Stefan-Florin Balan
Keyword(s):  
Monitoring System ◽  
Ambient Noise ◽  
Critical Issue ◽  
Seismic Events ◽  
Noise Sources ◽  
Rc Structures ◽  
Infrastructure Monitoring ◽  
Human Operators ◽  
The Impact

<p>The impact of natural hazards on structures and infrastructures is a critical issue that needs to be properly addressed by both public and private entities. To better cope with seismic hazard and to mitigate the risk, long-term multi-sensor infrastructure monitoring represents a useful tool for acquiring information on their condition and vulnerability. However, the current increasing data volume collected using sensors is not suitable to be processed with classical standalone methods. Thus, automatic algorithms and decision-making frameworks should be developed to use this data, with minimum intervention from human operators. A case-study for the application of advanced methods is focused on the headquarters of the Institute for Atomic Physics, a 11-story reinforced concrete building, located near Bucharest, Romania. The instrumentation scheme consists of accelerometers installed at the basement, at an intermediate floor and at the top of the structure. The data were continuously recorded, starting with December 2013. More than 80 seismic events with moment magnitude, M<sub>W</sub>, larger than 3.8 were recorded during the monitoring period. The current study covers the long-term evolution and variation of dynamic parameters (one value per hour), based on both ambient noise sources and small and medium magnitude seismic events. The seasonal variation of these parameters will be determined, as well as their daily variation and the differences between values obtained from ambient noise and from earthquake-induced vibrations. Other atmospheric parameters (e.g. temperature, precipitation, wind speed) will be considered in future studies. The goal of the PREVENT project, in the framework of which the research is performed, is to collect multi-disciplinary data and to integrate them into a complex monitoring system. The current study achieved the first step, focusing on data from the seismic sensors and setting up the premises for a multi-sensor, multi-parameter, more reliable infrastructure monitoring system.  </p>

Early and late outcomes of surgical repair of double-chambered right ventricle: a single-centre experience

2020 ◽  
Vol 30 (3) ◽  
pp. 409-412
Author(s):  
Murat Surucu ◽  
İlkay Erdoğan ◽  
Birgül Varan ◽  
Murat Özkan ◽  
N. Kürşad Tokel ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Right Ventricle ◽  
Septal Defect ◽  
Surgical Intervention ◽  
Systolic Pressure ◽  
Presenting Symptoms ◽  
Long Term Follow Up ◽  
The Right

AbstractObjective:Double-chambered right ventricle is characterised by division of the outlet portion of the right ventricle by hypertrophy of the septoparietal trabeculations into two parts. We aim to report our experiences regarding the presenting symptoms of double-chambered right ventricle, long-term prognosis, including the recurrence rate and incidence of arrhythmias after surgery.Methods:We retrospectively investigated 89 consecutive patients who were diagnosed to have double-chambered right ventricle and underwent a surgical intervention from 1995 to 2016. The data obtained by echocardiography, cardiac catheterisation, and surgical findings as well as post-operative follow-up, surgical approaches, post-operative morbidity, mortality, and cardiac events were evaluated.Results:Median age at the time of diagnosis was 2 months and mean age at the time of operation was 5.3 years. Concomitant cardiac anomalies were as follows: perimembranous ventricular septal defect (78 patients), atrial septal defect (9 patients), discrete subaortic membrane (32 patients), right aortic arch (3 patients), aortic valve prolapse and/or mild aortic regurgitation (14 patients), and left superior caval vein (2 patients). The mean follow-up period was 4.86 ± 4.6 years. In these patients, mean systolic pressure gradient in the right ventricle by echocardiography before, immediately, and long-term after surgical intervention was 66.3, 11.8, and 10.4 mmHg, respectively. There were no deaths during the long-term follow-up period. Surgical reinterventions were performed for residual ventricular septal defect (2), residual pulmonary stenosis (1), and severe tricuspid insufficiency (1).Conclusion:The surgical outcomes and prognosis of double-chambered right ventricle are favourable, recurrence and fatal arrhythmias are unlikely in long-term follow-up.

I did NOT feel like this at all before the accident: do men and women report different health and life consequences of a road traffic injury?

2018 ◽  
Vol 25 (4) ◽  
pp. 307-312 ◽  
Author(s):  
Marie Hasselberg ◽  
Marie Kirsebom ◽  
Josefin Bäckström ◽  
Hans-Yngve Berg ◽  
Ritva Rissanen
Keyword(s):  
Everyday Life ◽  
Road Traffic ◽  
Premature Death ◽  
Road Traffic Injury ◽  
Psychological Consequences ◽  
Men And Women ◽  
Traffic Injury ◽  
Physical Consequences ◽  
A Minor

BackgroundWorldwide, injuries represent one of the leading causes of mortality, and nearly one-quarter of all injuries are road traffic related. In many high-income countries, the burden of road traffic injuries (RTIs) has shifted from premature death to injury and disability with long-term consequences; therefore, it is important to assess the full burden of an RTI on individual lives.ObjectiveTo describe how men and women with minor and moderate injuries reported the consequences of an RTI on their health and lives.MethodsThe study was designed as an explorative qualitative study, in which the answers to an open-ended question concerning the life and health consequences following injury were analysed using systematic text condensation.ParticipantsA total of 692 respondents with a minor or a moderate injury were included.ResultsThe respondents reported the consequences of the crash on their health and lives according to four categories: physical consequences, psychological consequences, everyday life consequences and financial consequences. The results show that medically classified minor and moderate injuries have detrimental long-term health and life consequences. Although men and women report some similar consequences, there are substantial differences in their reported psychological and everyday life consequences following an injury. Women report travel anxiety and PTSD-like symptoms, being life altering for them compared with men, for whom these types of reports were missing.ConclusionThese differences emphasise the importance of considering gender-specific physical and psychological consequences following an RTI.

Synthesis of three-dimensional mesoporous Cu–Al layered double hydroxide/g-C3N4 nanocomposites on Ni-foam for enhanced supercapacitors with excellent long-term cycling stability

2018 ◽  
Vol 47 (13) ◽  
pp. 4455-4466 ◽  
Author(s):  
Surya Prasad Adhikari ◽  
Ganesh Prasad Awasthi ◽  
Kyung-Suk Kim ◽  
Chan Hee Park ◽  
Cheol Sang Kim
Keyword(s):  
Layered Double Hydroxide ◽  
Three Dimensional ◽  
Cycling Stability ◽  
Ni Foam ◽  
Step Process ◽  
Double Hydroxide

In this study, a novel composite of Cu–Al layered double hydroxide (LDH) nanosheets and g-C3N4-covered Ni-foam was fabricated via a simple and facile two-step process.

Use of Computerized Tomography in Abdominal Pain

2018 ◽  
Vol 84 (6) ◽  
pp. 1091-1096 ◽  
Author(s):  
Astha Bhatt ◽  
Xihua Yang ◽  
Nihaal Karnik ◽  
Anne Sill ◽  
Gopal Kowdley
Keyword(s):  
Abdominal Pain ◽  
Incidental Findings ◽  
Acute Abdominal Pain ◽  
Imaging Modality ◽  
Fold Increase ◽  
The United States ◽  
Presenting Symptoms ◽  
Left Flank Pain ◽  
Level Of Agreement

Annually, approximately 70 million computed tomography (CT) scans are performed in emergency department (ED) settings in the United States of America. From 1995 to 2007, there has been a 5.9-fold increase in the use of CTscans nationally. The radiation risks and high costs associated with CTscans underscore the fact that the imaging modality, although necessary, carries a myriad of long-term risks to both patients and providers. For the workup of abdominal pain, most algorithms include the use of CTscan as an early step. To understand better the use of CTscans in our ED, we performed a retrospective review of patients presenting to the ED with abdominal pain. Two main questions were addressed: 1) what were the reasons for scans and how often did the scans reveal pathology related to the presenting symptoms, 2) how often were incidental findings identified. Our results showed that among patients presenting with abdominal pain to the ED, 50 per cent of the scans were normal, about 20 per cent of the patients had findings correlating with acute abdominal pain, whereas the rest (30%) had incidental findings that may have led to further outpatient studies or long standing abdominal pain. Most patients who presented to the ED had nonspecific abdominal pain i.e. 64.4 per cent. There was a low agreement between the presenting quadrant of pain and final pathological diagnosis (9.5–33.3% concordance), with left flank pain presentation having the highest level of agreement with the final pathologic diagnosis.

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