Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder

We were interested in elucidating the non-neurologic health of patients with autosomal recessive SLC13A5 Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neurologic impairment, including seizures, as well as motor and cognitive dysfunction. Additionally, most patients lack tooth enamel (amelogenesis imperfecta). However, patients have not had their overall health and growth described in detail. Here we characterized the non-neurologic health of 15 patients with medical records uploaded to Ciitizen, a cloud-based patient medical records portal. Ciitizen used a query method for data extraction. Overall, the patients’ records suggested a moderate number of gastrointestinal issues related to feeding, reflux, vomiting and weight gain and a diverse number of respiratory complaints. Other organ systems had single or no abnormal diagnoses, including liver, renal and cardiac. Growth parameters were mostly in the normal range during early life, with a trend toward slower growth in the few adolescent patients with data available. The gastrointestinal and pulmonary issues may at least partially be explained by the severity of the neurologic disorder. More data are needed to clarify if growth is impacted during adolescence and if adult patients develop or are protected from non-neurologic disorders.

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Reported Neurologic Disorders Following Live Measles Vaccine

PEDIATRICS ◽

10.1542/peds.41.5.997 ◽

1968 ◽

Vol 41 (5) ◽

pp. 997-1001

Author(s):

Philip R. Nader ◽

Robert J. Warren

Keyword(s):

Herpes Simplex ◽

Active Surveillance ◽

Communicable Disease ◽

Temporal Association ◽

Measles Vaccine ◽

Neurologic Disorder ◽

Serologic Response ◽

Neurologic Disorders ◽

Measles Vaccination

In the 26 months from January 1965 through February 1967, 23 instances of neurologic disorder following measles vaccination were reported to the National Communicable Disease Center. Analysis of data for individual cases reveals that one was probably caused by herpes simplex and three (possibly four) patients had no serologic response to vaccination. In no case was it possible to determine whether the illness was actually vaccine induced or whether the temporal association with vaccine inoculation was merely coincidental. That 23 known cases of encephalitis have been reported indicates the need for active surveillance of all suspect cases. However, it is obvious that the risk of encephalitis is much greater after the natural disease than after vaccination.

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Comparison of Word Embeddings for Extraction from Medical Records

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph16224360 ◽

2019 ◽

Vol 16 (22) ◽

pp. 4360

Author(s):

Aleksei Dudchenko ◽

Georgy Kopanitsa

Keyword(s):

Neural Network ◽

Medical Records ◽

Data Extraction ◽

Russian Language ◽

Machine Learning Algorithms ◽

Supervised Machine Learning ◽

Network Architectures ◽

Medical Texts ◽

Convolutional Network ◽

Personalized Health

This paper is an extension of the work originally presented in the 16th International Conference on Wearable, Micro and Nano Technologies for Personalized Health. Despite using electronic medical records, free narrative text is still widely used for medical records. To make data from texts available for decision support systems, supervised machine learning algorithms might be successfully applied. In this work, we developed and compared a prototype of a medical data extraction system based on different artificial neural network architectures to process free medical texts in the Russian language. Three classifiers were applied to extract entities from snippets of text. Multi-layer perceptron (MLP) and convolutional neural network (CNN) classifiers showed similar results to all three embedding models. MLP exceeded convolutional network on pipelines that used the embedding model trained on medical records with preliminary lemmatization. Nevertheless, the highest F-score was achieved by CNN. CNN slightly exceeded MLP when the biggest word2vec model was applied (F-score 0.9763).

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Functional neurologic disorders

Neurology Clinical Practice ◽

10.1212/cpj.0000000000000949 ◽

2020 ◽

pp. 10.1212/CPJ.0000000000000949

Author(s):

Mary A. O'Neal ◽

Gaston C. Baslet ◽

Ginger R. Polich ◽

Geoffrey S. Raynor ◽

Barbara A. Dworetzky

Keyword(s):

Best Practices ◽

Academic Programs ◽

Diagnosis And Treatment ◽

Comprehensive Model ◽

Model Of Care ◽

Neurologic Disorder ◽

Neurologic Disorders ◽

Number Of Patients

Neurologists are commonly consulted for patients with a functional neurologic disorder. Best practices as to their diagnosis and treatment have been established and multiple academic centers have programs in place for their treatment. However, given the number of patients suffering from this condition, a comprehensive model of care that can be broadly implemented needs to be developed and applied beyond specialized academic programs.

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Method for developing national quality indicators based on manual data extraction from medical records

BMJ Quality & Safety ◽

10.1136/bmjqs-2012-001170 ◽

2012 ◽

Vol 22 (2) ◽

pp. 155-162 ◽

Cited By ~ 13

Author(s):

Melanie Couralet ◽

Henri Leleu ◽

Frederic Capuano ◽

Leah Marcotte ◽

Gérard Nitenberg ◽

...

Keyword(s):

Quality Indicators ◽

Medical Records ◽

Data Extraction ◽

National Quality

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Exploring why patients with cancer consult GPs: a 1-year data extraction

BJGP Open ◽

10.3399/bjgpopen19x101663 ◽

2019 ◽

Vol 3 (4) ◽

pp. bjgpopen19X101663 ◽

Cited By ~ 1

Author(s):

Heidi Lidal Fidjeland ◽

Ingvild Vistad ◽

Svein Gjelstad ◽

Mette Brekke

Keyword(s):

Electronic Medical Records ◽

Medical Records ◽

Data Extraction ◽

Survival Rates ◽

Main Diagnosis ◽

Consultation Rate ◽

Patients With Cancer ◽

Explorative Study ◽

The Mean

BackgroundSurvival rates of patients with cancer are increasing owing to improvements in diagnostics and therapies. The traditional hospital-based follow-up model faces challenges because of the consequent increasing workload, and it has been suggested that selected patients with cancer could be followed up by GPs.The hypothesis of the study was that, regardless of the hospital-based follow-up care, GPs see their patients with cancer both for cancer-related problems as well as for other reasons. Thus, a formalised follow-up by GPs would not mean too large a change in GPs’ workloads.AimTo explore to what extent patients with cancer consult their GPs, and for what reasons.Design & settingA 1-year explorative study was undertaken, based on data from 91 Norwegian GPs from 2016–2017.MethodThe data were electronically extracted from GPs' electronic medical records (EMR).ResultsData were collected from 91 GPs. There were 11 074 consultations in total, generated by 1932 patients with cancer. The mean consultation rate was higher among the patients with cancer compared with Norwegian patients in general. In one-third of the consultations, cancer was the main diagnosis. Apart from cancer, cardiovascular and musculoskeletal diagnoses were common. Patients with cancer who had multiple diagnoses or psychological diagnoses did not consult their GP significantly more often than patients with cancer without such comorbidity.ConclusionThis study confirms that patients with cancer consult their GP more often than other patients, both for cancer-related reasons and for various comorbidities. A formalised follow-up by GPs would probably be feasible, and GPs should prepare for this responsibility.

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Depression in Neurological Disorders

10.1093/med/9780190603342.003.0007 ◽

2018 ◽

Author(s):

Andres M. Kanner

Keyword(s):

Neurological Disorders ◽

Clinical Characteristics ◽

Psychiatric Comorbidity ◽

Response To Treatment ◽

Prevalence Rates ◽

Comorbid Depression ◽

Neurologic Disorder ◽

Complex Relation ◽

Neurologic Disorders ◽

The Impact

Depression is a common psychiatric comorbidity in the major neurologic disorders (e.g, stroke, epilepsy, migraine, Alzheimer’s dementia, multiple sclerosis, and Parkinson’s disease), with average prevalence rates of 25% to 40%. The relation between depression and several of these neurologic disorders is bidirectional, that is not only are patients with these neurologic conditions at greater risk of developing depression, but patients with depression are at greater risk of developing these neurologic disorders. Furthermore, the presence of comorbid depression has been associated with a worse course of the neurologic disorder and a higher risk of failure to respond to the neurologic therapies. This chapter reviews the epidemiologic and clinical characteristics of depression in the major neurologic disorder and describes the impact it has on the course of the neurologic condition and response to treatment. Finally, it identifies those neurologic disorders in with a bidirectional relation has been identified and suggests potential pathogenic mechanisms that may be operant in their complex relation.

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Predictors of early growth failure in preterm, very low birth weight infants during hospitalization

Paediatrica Indonesiana ◽

10.14238/pi59.1.2019.44-50 ◽

2019 ◽

Vol 59 (1) ◽

pp. 44-50

Author(s):

Noviyani Leksomono ◽

Retno Sutomo ◽

Ekawaty Lutfia Haksari

Keyword(s):

Birth Weight ◽

Low Birth Weight ◽

Respiratory Distress ◽

Gestational Age ◽

Medical Records ◽

Very Low Birth Weight ◽

Growth Parameters ◽

Growth Failure ◽

Early Growth ◽

Vlbw Infants

Background Preterm, very low birth weight (VLBW) infants experience intrauterine nutritional deficits and perinatal comorbidities that may impair early growth parameters. Early growth failure has detrimental effects on later growth and neurodevelopment in childhood. Objective To analyze predictors of early growth failure in preterm, VLBW infants and differences in early growth parameters between small-for-gestational age (SGA) and appropriate-for-gestational age (AGA) infants. Methods This retrospective cohort study was conducted at Dr. Sardjito Hospital, Yogyakarta from 2011 to 2016. Subjects were preterm infants, with birth weights of 1,000-1,499 g. Twins, those who died during hospitalization, were discharged against medical advice, or had incomplete medical records were excluded. Adequate intrauterine growth was determined by the Lubchenco table criteria. Growth parameters and perinatal comorbidities were collected from medical records. Growth failure was defined as discharge weight less than 10th percentile of the Fenton growth curve. Bivariate and multivariate analysis were used to analyze potential predictive factors of early growth failure. Results Of 646 preterm, VLBW infants during the study period, 398 were excluded. Respiratory distress and SGA were predictors of early growth failure (AOR 6.94; 95%CI 2.93 to 16.42 and AOR 34.44; 95%CI 7.79 to 152.4, respectively). Mean weight velocities in SGA and AGA infants were not significantly different [16.5 (SD 5.9) and 17.5 (SD 5.3) g/kg/day, respectively; (P=0.25)]. Median time to regain, time to reach full feeding, and time to reach 120 kcal/kg/day were also not significantly different between SGA and AGA infants. Conclusions SGA and respiratory distress are predictors of early growth failure in preterm, VLBW infants during hospitalization. The SGA infants grow slower than AGA infants.

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Medication Used in Neurologic Disorders Associated and/or Concomitant with Cerebral Arachnoid Cysts in Children

Revista de Chimie ◽

10.37358/rc.18.1.6048 ◽

2018 ◽

Vol 69 (1) ◽

pp. 80-85

Author(s):

Eva Maria Cojocaru ◽

Victorita Stefanescu ◽

Ariela Elena Banu ◽

Aurel Nechita

Keyword(s):

Case Series ◽

Arachnoid Cysts ◽

Migraine Treatment ◽

Family Structures ◽

Neurologic Disorder ◽

Male Predominance ◽

Neurologic Disorders ◽

Different Types ◽

Cerebral Cysts ◽

First Time

Arachnoid cerebral cysts can create great anxiety to families of the affected child. In children prospective studies of arachnoid cerebral cyst series are focused on the surgical treatment and no medication associated tot this pathology was analysed until yet. We want to show how medication for neurological disorders found in children which have had also arachnoid cysts was used, and that not only surgery is the first line treatment in all types of arachnoid cysts.There are not extensive studies yet for the different contexts which are involving arachnoid cerebral cystsin children. This study was made for the first time in the cabinet of neurology from the Children Clinic Emergency Hospital Sfantul Ioan Galati in a 111 case series under clinic-imagistic surveillance and EEG between 2014-2017. A male predominance is seen as also a prevalence at the ages of 6-10 years of age and 2-5 years of age. Treatment were of different types due to the neurologic disorder which the children have had ( antiepileptic, neurotrophic, antiiinflammatory, nonsteroid and steroid and migraine treatment) after the international guidelines in use.The formulation of a diagnosis of epilepsy must be done with great responsibility because of many parioxistic nonepileptic events, where can exist associated arachnoid cysts, but we can have particulary family structures , because of the parents working places , so the waiting of the next paroxistic events and observing of the child is a wise attitude.But arachnoid cerebral cysts can be considered cerebral structural marker in some of the analysed cases.

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Screening for Depression in Neurologic Disorders

Screening for Depression in Clinical Practice ◽

10.1093/oso/9780195380194.003.0015 ◽

2009 ◽

Author(s):

Andres M. Kanner

Keyword(s):

Multiple Sclerosis ◽

Parkinson’S Disease ◽

Parkinson's Disease ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Depressive Disorders ◽

Screening Instruments ◽

Neurologic Disorder ◽

Neurologic Disorders ◽

Implementation Studies

Depression appears to be particularly common in several neurologic disorders, including epilepsy, stroke, dementias, Parkinson’s disease, Huntington’s disease, and multiple sclerosis. There is some evidence that the ‘‘depression’’ associated with each neurologic disorder is distinct in symptoms and course. This suggests it may be useful to have depression scales validated for each neurologic disorder, yet most instruments appear to yield comparable acceptable sensitivities and specificities. However, head-to-head comparisons of scales and implementation studies are needed to resolve this issue. Depressive disorders are a common psychiatric comorbidity of neurologic disorders, including epilepsy, stroke, dementias, Parkinson’s disease (PD), essential tremor, Huntington’s disease, migraines and multiple sclerosis (MS), to name the principal ones. It is typically assumed that depressive disorders are a complication of these neurologic disorders. However, data published in the past 15 years have suggested a bidirectional relation between depression and stroke, epilepsy, dementia, and PD. In other words, not only are patients with these neurologic conditions at greater risk of developing depression, but patients with depression are at greater risk of developing one of these disorders. Early identification of comorbid depressive disorders is of the essence given their negative impact on quality of life and the course and response to treatment of most of these neurologic disorders. Unfortunately, depression often goes unrecognized and hence untreated. Clearly the use of screening instruments by neurologists may help remedy this problem. Several caveats need to be considered, however. First, the clinical presentation of comorbid depressive disorders may differ in several ways from that of primary depression, such as in cases of depression in epilepsy. Second, several somatic and cognitive symptoms are common in primary depression and most neurologic disorders (ie, fatigue, poor concentration, and slow thinking). Thus, a higher score may be a reflection of such symptoms and not of a depressive episode per se. Third, most of the available screening instruments for depression were developed for primary mood disorders and hence may yield false-positive or -negative findings.

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