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Episodic Ataxia, Type 2

Q: What is the main cause of Episodic Ataxia, Type 2?

Episodic Ataxia, Type 2 is a rare genetic disorder caused by mutations in the CACNA1A gene. These mutations lead to dysfunction in the calcium channels of nerve cells, resulting in the recurrent episodes of uncoordinated muscle movements and balance difficulties that characterize the condition.

Q: What are the common symptoms of Episodic Ataxia, Type 2?

The primary symptoms of Episodic Ataxia, Type 2 include sudden onset of vertigo, nystagmus (rapid, uncontrolled eye movements), and ataxia (loss of muscle coordination) that can last from minutes to hours. These episodes can be triggered by stress, fatigue, or sudden movements.

Episodic Ataxia, Type 2 is a rare genetic disorder characterized by recurrent episodes of uncoordinated muscle movments and balance difficulties.
Caused by mutations in the CACNA1A gene, this condition can lead to sudden onset of vertigo, nystagmus, and ataxia lasting minutes to hours.
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Most cited protocols related to «Episodic Ataxia, Type 2»

Validating Revised Neuropsychological Questionnaire

The retained items for the revised questionnaire were again subjected to a
PCA to confirm that the underlying factor structure remained the same.
Preliminary validity and utility analyses were also performed. This involved
comparing the internal consistency of the original questionnaire
subsections,^{10 (link)}assessed using data from 450 patients, with the internal consistency of the
revised questionnaire. Adequate internal consistency infers that all the
items on the questionnaire that make up a composite score reflect the same
underlying construct. Internal consistency was calculated using Cronbach’s
α, where values range from 0-1, with higher scores reflecting higher
internal consistency.^{17 (link)}T tests were performed to compare the subsections from the
original CBI with the revised version. The diagnostic value of the revised
questionnaire was also assessed by investigating the distribution of
behavioural deficits in the four neurodegenerative diseases. Behavioural
profiles were created using data from the original 450 patients, but
excluding the questions that had been removed. These were then compared with
behavioural profiles drawn up using the original questionnaire.^{10 (link)}

Wear H.J., Wedderburn C.J., Mioshi E., Williams-Gray C.H., Mason S.L., Barker R.A, & Hodges J.R. (2008). The Cambridge Behavioural Inventory revised. Dementia & Neuropsychologia, 2(2), 102-107.

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Publication 2008

Diagnosis Episodic Ataxia, Type 2 Neurodegenerative Disorders Patients

Quantification of Cytosolic and Nuclear Peptide Uptake

The cell lines used for CAPA were HeLa cell lines, generated by Chenoweth and co-workers, that stably expresses HaloTag exclusively in the cytosol or nucleus.^{22 (link)} Cells were seeded in a 96-well plate the day before the experiment at density of 4 × 10⁴ cells per well. The day of the experiment the media was aspirated, and 100 μL of Opti-MEM was added to the cells. Peptide stocks in DMSO were diluted in filtered water and serial dilutions of the peptides were performed in a separate 96-well plate, ensuring the final DMSO concentration was kept consistent and below 1%. 25 μL of peptide solution was added to each well and the plate was incubated for 4 hr at 37 °C with 5% CO₂. The contents of the wells were aspirated off and wells were washed using fresh Opti-MEM for 15 mins. The wash was aspirated off and the cells were chased using 5 μM ct-TAMRA for 15 mins, except for the No-ct-TAMRA control wells which were incubated with Opti-MEM alone. The contents of the wells were aspirated and washed with fresh Opti-MEM for 30 mins. After aspiration, cells were rinsed once with PBS. The cells were then trypsinized, resuspended in PBS and analyzed using a benchtop flow cytometer (Guava EasyCyte, EMD Millipore). For the experiment that varied temperature, two identical 96-well plates were prepared, and one was incubated at 37 °C with 5% CO₂ for 4 h, the other at 4 °C for 4 h. For the experiments that varied the presence of serum, two identical plates were prepared, one with DMEM and the other with DMEM + 10% FBS. For the time-course experiments, five identical plates were prepared and incubated at 37 °C with 5% CO₂. After 30m, 2h, 4 h, 8h and 2 4 h of incubation, one plate was removed from the incubator and analyzed as described above.

Peraro L., Deprey K.L., Moser M.K., Zou Z., Ball H.L., Levine B, & Kritzer J.A. (2018). Cell Penetration Profiling Using the Chloroalkane Penetration Assay. Journal of the American Chemical Society, 140(36), 11360-11369.

Publication 2018

Cell Lines Cell Nucleus Cells Cytosol Episodic Ataxia, Type 2 HaloTag HeLa Cells Peptides Psidium guajava Serum Sulfoxide, Dimethyl Technique, Dilution Workers

Epidemiology and Outcomes of COVID-19-Associated Pulmonary Aspergillosis

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Publication 2021

Adult Biological Evolution COVID 19 Diagnosis Episodic Ataxia, Type 2 Infection Invasive Fungal Infections Lung Patients SARS-CoV-2 X-Rays, Diagnostic

Mental Health of Adolescents in Norwegian Residential Youth Care

All residents between the ages of 12 and 23 years in RYC in Norway were invited to participate in the study (see Fig. 1). Unaccompanied minors without asylum in Norway and youths on acute placement were considered to be in such a high state of crisis that data collection should not be prioritized and were therefore excluded from the study. Youths with insufficient proficiency in Norwegian to be interviewed were also excluded. Eighty-six RYC institutions with 601 eligible youths were included. For 201 of these, the parents or youths did not consent to participate in the study, giving a total sample of 400 youths and response rate of 67 % (see Fig. 1). Table 1 shows the characteristics of the sample, consisting of 230 girls (mean age = 16.9; SD = 1.2) and 170 boys (mean age = 16.5; SD = 1.5). Of the 86 participating institutions, only 18 % had routines for regular visits from health-care workers at the institution. Regarding help for mental health problems, 86.5 % of the youths reported having ever received help from mental health services, while 37.8 % reported having received help within the last 3 months.Fig. 1

Inclusion flowchart. CAPA Child and Adolescent Assessment Interview, CBCL Child Behaviour Checklist, primary contact child’s individual primary contact at the institution. *The category “not able to contact” was used if institutional staff did not respond to repeated approaches about participation over a period of several months. **There were no significant differences between participating and non-participating RYC institutions with regard to geography and ownership

Table 1

Sample characteristics of the adolescents participating in the study

Characteristics	n	%	M	SD	Range
Gender
Male	170
Female	230
Age
Male			16.5 years	1.5 years	12.2–19.3
Female			16.9 years	1.2 years	13.5–20.2
Ethnic origin
Norwegian	307	78.5
1st generation immigrant	54	13.8
2nd generation immigrant	23	5.9
Unaccompanied minor with asylum in Norway	7	1.8
Number of placement in the total sample	364		3.34	2.4	1–25
Number of placements (by decision of the child welfare system)
1	69	19
2	96	26.4
3–5	150	41.2
>5	49	13.4
Age at first placement in the total sample	392		12.5 years	3.9 years	0–17
Age at first placement (by decision of the child welfare system)
0–2 years	18	4.6
3–5 years	15	3.9
6–12 years	98	25
13–16 years	233	59.4
16–23 years	28	7.1
Placement in RYC
Voluntary	171	43.6
Involuntary	221	56.43
Daytime activities
School	272	69.2
Work	15	3.8
Work praxis	30	7.5
Neither school or work	70	19.5
Parental problems
Mother chronic illness	85	22.8
Mother mental illness	136	36
Mother drug use	36	9.6
Father chronic illness	64	17.9
Father mental illness	67	19.0
Father drug use	43	11.8

Total samples are indicated in bold

Jozefiak T., Kayed N.S., Rimehaug T., Wormdal A.K., Brubakk A.M, & Wichstrøm L. (2015). Prevalence and comorbidity of mental disorders among adolescents living in residential youth care. European Child & Adolescent Psychiatry, 25(1), 33-47.

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Publication 2015

Adolescent Boys Child Child Welfare Drugs, Non-Prescription Episodic Ataxia, Type 2 Health Personnel Mental Health Mental Health Services Mothers Parent Respiratory Diaphragm Woman Youth

Differential Diagnosis of Vestibular Paroxysm

The leading symptom of VP is recurrent spontaneous attacks of vertigo. The diagnosis is generally straightforward because of the characteristic brief duration (from seconds up to one minute), the frequently recurring attacks of vertigo and the response to a treatment with carbamazepine or oxcarbazepine. There are only a few other disorders which may present with this leading symptom:

•

Menière’s disease: duration of the attacks from 20 min to 12 hours, low- to medium-frequency sensorineural hearing loss (>30 dB, <2000 Hz) [28 (link)].

•

Tumarkin’s otolithic crisis (“vestibular drop attacks”). These sudden falls are usually not accompanied by vertigo and occur most often in patients with known Menière’s disease, typically while standing, whereas in VP the attacks occur in any body positions.

•

Paroxysmal brainstem attacks with vertigo, dysarthria or ataxia (after stroke or in MS) may be difficult to distinguish, as they also respond to low doses of sodium-channel blockers. It was shown that they may be caused by a brainstem lesion due to MS plaques or lacunar infarctions [27 (link)], which also leads to ephaptic discharges of neighboring fibers of the brainstem paths. In such cases the use of MRI with thin brainstem slices is useful for establishing the diagnosis.

•

Vestibular migraine [26 (link)]: officially the duration of the attacks is 5 min to 72 hours, current or previous history of migraine, most attacks being accompanied by other migrainous symptoms. In vestibular migraine, short spells of vertigo may be induced by changes of head or body position when patients are motion sensitive during an episode of vestibular migraine.

•

Vertebrobasilar transient ischemic attacks: vertigo frequently occurs in isolation in this condition [33 (link)].

•

Panic attacks: according to DSM-5, the diagnostic criteria for a panic attack include a discrete period of intense fear or discomfort, in which four (or more) of the following symptoms develop abruptly and reach a peak within minutes: feeling dizzy, unsteady, lightheaded, or faint; nausea or abdominal distress; palpitations, and/or accelerated heart rate; sweating; trembling or shaking; sensations of shortness of breath or being smothered; feeling of choking; chest pain or discomfort; de-realization or depersonalization; fear of losing control or going insane; sense of impending death; paresthesias; chills or hot flashes. Panic attacks are often longer than typical attacks of VP. It may be helpful to ask the patient which of the symptoms come first to differentiate between the two.

•

Perilymph fistula: The cardinal symptoms of perilymph fistula (and superior canal dehiscence syndrome) are attacks of vertigo caused by changes in pressure, for example, by coughing, pressing, sneezing, lifting, or loud noises and accompanied by illusory movements of the environment (oscillopsia) and instability of posture and gait with or without hearing disorders. The attacks, which can last seconds to days, may also occur during changes in the position of the head (e.g., when bending over) and when experiencing significant changes in altitude (e.g., mountain tours, flights) [6 ].

•

Episodic ataxia type 2: the duration of the attacks varies from several minutes to hours and more than 90% of the patients have cerebellar signs, in particular gaze-evoked nystagmus and downbeat nystagmus [20, 40 (link)]. The onset of manifestations after the age of 20 is unusual. The much rarer episodic ataxia type 1 is another differential diagnosis. It is characterized by recurrent attacks of ataxia, dizziness and visual blurring, provoked by abrupt postural changes, emotion, vestibular stimulation and lasting minutes. These patients also have neuromyotonia, i.e. continuous spontaneous muscle fiber activity [19 (link)].

•

Epilepsy with vestibular aura: Vestibular auras can manifest with short attacks of vertigo and nystagmus. Vestibular aura with additional symptoms, so-called non-isolated vestibular aura, is much more prevalent than isolated vestibular aura, which is rare. Vestibular aura is primarily associated with temporal lobe seizures. Isolated vestibular aura spells often last only a few seconds, but longer spells are also reported [41 (link)].

Other differential diagnoses are characterized by recurrent attacks of vertigo that are induced by certain maneuvers. These differential diagnoses include BPPV, central positional vertigo/nystagmus, “rotational vertebral artery occlusion syndrome” (RVAOS), orthostatic hypotension, or rarely cysts or tumors in the cerebello-pontine angle [1, 24 (link)]. In BPPV the attacks are induced by changes of head or body position relative to gravity, and the diagnosis can be proven by the diagnostic positional maneuvers. However, if they are negative, VP remains an important differential diagnosis. In central positional/positioning nystagmus the positioning maneuvers induce a similar nystagmus in different head positions [9 (link)]. In RVAOS the attacks are induced by rotation of the head either to the right or left, and diagnosis is proven by angiography. Similar to VP the symptoms are also caused by an excitation of the peripheral vestibular system [38 (link)]. In orthostatic hypotension the symptoms occur when the patient stands up and may be associated with vertigo and downbeat nystagmus; the key to this diagnosis is measurement of supine and orthostatic blood pressure [11 (link)].

Strupp M., Lopez-Escamez J.A., Kim J.S., Straumann D., Jen J.C., Carey J., Bisdorff A, & Brandt T. (2017). Vestibular paroxysmia: Diagnostic criteria. Journal of Vestibular Research, 26(5-6), 409-415.

Publication 2016

Abdomen Angiography Ataxia Benign Paroxysmal Positional Vertigo Blood Pressure Brain Stem Carbamazepine Cerebellum Cerebrovascular Accident Chest Pain Chills Cyst Dental Occlusion Depersonalization Diagnosis Differential Diagnosis Drop Attack Dysarthria Dyspnea Emotions Epilepsy Epilepsy, Temporal Lobe Episodic Ataxia, Type 1 Episodic Ataxia, Type 2 Fear Fibrosis Fistula Gravity Head Hot Flashes Hypotension, Orthostatic Illusions Infarction, Lacunar Isaacs' Syndrome Migraine Disorders Movement Muscle Tissue Nausea Neoplasm Metastasis Otoconia Oxcarbazepine Panic Attacks Paresthesia Pathologic Nystagmus Patients Perilymph Pontine Tumors Positional Nystagmus Positional Vertigo Pressure Rate, Heart Senile Plaques Sensorineural Hearing Loss Sodium Channel Blockers Superior Semicircular Canal Dehiscence Syncope Transient Ischemic Attack Vertebral artery syndrome Vertigo Vestibular Labyrinth Vestibular System

Most recents protocols related to «Episodic Ataxia, Type 2»

Phycobiliprotein Biosynthesis in Spirulina

Escherichia coli BL21 (DE3) for transformation was obtained from Tsingke Biotechnology (China). Expression vectors pACYCDuet-1 and pETDuet-1 were procured from Novagen (Germany).
Phycocyanin genes consists of pcA and pcB (DQ406671.1), and allophycocyanin genes include apcA and apcB (HQ828097.1). These genes were cloned from A. platensis FACHB314.
The genes related to synthesize phycocyanobilin (PCB) include heme oxygenase gene ho (WP_006617685.1) and phycocyanobilin-ferredoxin oxidoreductase gene pcyA (WP_006621708.1). The chromophore lyase genes include cpcU (AMW31400), cpcS (AMW26792.1), cpcT (AMW27064.1), cpcE (AHA14838.1), and cpcF (AHA14838.1) were cloned from A. platensis. FACHB314 to catalyze the binding of phycocyanobilin (PCB) to phycocyanin and allophycocyanin.

Shang M.H., Sun J.F., Bi Y., Xu X.T, & Zang X.N. (2023). Fluorescence and antioxidant activity of heterologous expression of phycocyanin and allophycocyanin from Arthrospira platensis. Frontiers in Nutrition, 10, 1127422.

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Publication 2023

allophycocyanin Catalysis Choroid Plexus Carcinoma Cloning Vectors Episodic Ataxia, Type 2 Escherichia coli Ferredoxin Genes Heme Oxygenase (Decyclizing) Lyase Oxidoreductase Phycocyanin phycocyanobilin

Corticosteroid Duration and CAPA Risk

All statistical analyses were conducted with JMP 16 software (SAS Corporation, Cary, North Carolina). Baseline characteristics and health outcomes were compared between corticosteroid duration groups using the χ², Fisher exact, or Wilcoxon rank-sum tests as appropriate. Steroid duration was assessed as an independent predictor of CAPA using logistic regression. First, univariate logistic regression was used to identify which baseline characteristics were associated with CAPA at a threshold of P < .2. Significant univariate covariates were then entered as covariates in a multivariate logistic regression model to generate adjusted odds ratios (ORs) and 95% confidence intervals (CIs). Covariates that achieved P < .05 were considered significant independent predictors of CAPA in the final model. CAPA was also assessed as an independent predictor of mortality using a multivariate logistic regression model that included the following variates: age, steroid duration, salvage therapies for ARDS, PaO₂/FiO₂ ratio, SOFA score, secondary infection, and duration of ventilation. Additional analyses were conducted to examine the relationship between corticosteroid duration as a continuous variable and CAPA risk. Median total steroid duration was calculated for those who did and did not develop CAPA and was compared between CAPA groups using the Wilcoxon rank-sum test. The duration of steroids that most accurately predicted CAPA was assessed using a logistic regression model with CAPA as the dependent variable and steroid duration as the independent variable to generate the area under the receiver operating characteristic (ROC) curve (AUC). The cutoff was determined by the duration with the highest positive likelihood ratio (ie, sensitivity – [1-specificity]).
The study was approved by the University of Texas Health Science Center at San Antonio institutional review board and the University Health research department (HSC20200207EX).

Shah M., Reveles K., Moote R., Hand E., Kellogg III D., Attridge R.L., Maselli D.J, & Gutierrez G.C. (2023). Risk of Coronavirus Disease 2019–Associated Pulmonary Aspergillosis Based on Corticosteroid Duration in Intensive Care Patients. Open Forum Infectious Diseases, 10(3), ofad062.

Publication 2023

Adrenal Cortex Hormones Episodic Ataxia, Type 2 Ethics Committees, Research Hypersensitivity Respiratory Distress Syndrome, Adult Salvage Therapy Secondary Infections Steroids

DRAGON-Data: Curating Neuropsychiatric Genetics

Fifteen studies from the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University (https://www.cardiff.ac.uk/mrc-centre-neuropsychiatric-genetics-genomics) were included in this project. A summary of the studies can be found in Table 1. Each study had its own approved research ethics, and ethical approval for the curation and development of DRAGON-Data was obtained from Cardiff University's School of Medicine Research Ethics Committee (approval reference 19/72). The studies included participants who were adults with psychiatric disorders, children (defined as up to age 18 years) with neurodevelopmental disorders, children of parents with psychiatric disorders and both children and adult carriers of rare neurodevelopmental risk copy number variants (ND-CNVs).

Table 1

Studies included in DRAGON-Data

Study	Reference	Main diagnosis	Principal investigator(s)	Genotyping platform	Number genotyped (after quality control)	Psychiatric instruments used	Diagnostic criteria included	Number phenotyped (harmonised)
BDRN	^{24 (link)}	Bipolar disorder	N. Craddock, I. Jones, L. Jones	Affymetrix5OmniExpressPsychChip	480680351102	SCAN	ICD-10, DSM-IV	6000
Bulgarian Trios
Case–control data	^{25 (link)}	Psychosis and mood disorders	G. Kirov	OmniExpress	806	SCAN	DSM-IV	305
Family data^a	^{26 (link)}	Probands with psychosis and mood disorders and their families	G. Kirov	Affymetrix6	2119	SCAN	DSM-IV	3084
CLOZUK	^{27 (link),28 (link)}	Treatment-resistant schizophrenia	J. T. R. Walters, M. Owen, M. O'Donovan	OmniExpress	13 743	None (anonymised samples)	None (anonymised samples)	16 405
Cardiff COGS	^{29 (link)}	Schizophrenia, psychosis or bipolar disorder	J. T. R. Walters, M. Owen	OmniExpress	997	SCAN	ICD-10, DSM-IV	1301
DEFINE	^{30 (link)}	Confirmed ND-CNV carrier	J. Hall, D. Linden, M.B.M. van den Bree, M. Owen	PsychChip	971 (number inclusive of ECHO and IMAGINE)	SCIDPAS-ADD	DSM-IV	125
ECHO IMAGINE	^{31 (link),32 (link)}	Confirmed ND-CNV carrier	M.B.M. van den Bree, J.Hall, D. Linden, M. Owen	PsychChip		CAPA	DSM-IV	963
EPAD^a	^{33 (link)}	Major depressive disorder (at least one affected parent and their child)	F. Rice, A. Thapar	PsychChip	615	CAPA and SCAN	DSM-IV	674
F-Series^a	^{34 (link)}	Psychosis and mood disorders	M. Owen	OmniExpress	749	SCAN	ICD-10, DSM-IV	1022
DeCC/DeNt	^{35 (link)}	Major depressive disorder	N. Craddock, L. Jones, C. Lewis, M. Owen	610 Quad	1346	SCAN	DSM-IV	1504
NCMH	^{36 (link)}	Any developmental or mental disorder	I. Jones (and others)	PsychChip	3352	SCAN (N = 465)CAPS-5PAS-ADD	For those with SCAN interviews: ICD-10, DSM-IV, DSM-5	16 311
PTSD Registry	^{37 (link)}	PTSD	J. Bisson, N. Roberts	PsychChip	325	SCIDCAPS	DSM-5	325
SAGE^a	^{38 (link)}	ADHD	A. Thapar, M. O'Donovan, M.J. Owen, K. Langley, J. Martin	HumanHap550PsychChip	2073^a	CAPA	ICD-10, DSM-IV	1132
Sib-Pairs	^{39 (link)}	Schizophrenia	M. Owen	OmniExpress	918	SCAN	ICD-10, DSM-IV	918

BDRN, Bipolar Disorder Research Network; SCAN, Schedules for Clinical Assessment in Neuropsychiatry; COGS, Cardiff Cognition in Schizophrenia; DEFINE, Defining Endophenotypes From Integrated Neurosciences; ND-CNV, Neurodevelopmental Copy Number Variant; SCID, Structured Clinical Interview for DSM-IV; PAS-ADD, The Psychiatric Assessment Schedule for Adult with Developmental Disability; ECHO, Experiences of Children with copy number variants; IMAGINE, Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment; CAPA, Child and Adolescent Psychiatric Assessment; EPAD, Early Prediction of Adolescent Depression; DeCC/DeNt, Depression Case Control / Depression Network; NCMH, National Centre for Mental Health; CAPS-5, Clinician Administered PTSD Scale for DSM-5; PTSD, post-traumatic stress disorder; SAGE, Study of ADHD, Genes and Environment; ADHD, attention-deficit hyperactivity disorder.

Includes family data and/or (trios).

Lynham A.J., Knott S., Underwood J.F., Hubbard L., Agha S.S., Bisson J.I., van den Bree M.B., Chawner S.J., Craddock N., O'Donovan M., Jones I.R., Kirov G., Langley K., Martin J., Rice F., Roberts N.P., Thapar A., Anney R., Owen M.J., Hall J., Pardiñas A.F, & Walters J.T. (2023). DRAGON-Data: a platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts. BJPsych Open, 9(2), e32.

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Publication 2023

Adolescent Adult Bipolar Disorder Child Cognition Copy Number Polymorphism Developmental Disabilities Disorder, Attention Deficit-Hyperactivity ECHO protocol Episodic Ataxia, Type 2 Ethics Committees, Research Genes Genome Inclusion Bodies Intellectual Disability Major Depressive Disorder Melancholia Mental Disorders Mental Health Mood Mood Disorders Neurodevelopmental Disorders Oryza sativa Parent Pharmaceutical Preparations Post-Traumatic Stress Disorder Psychotic Disorders Radionuclide Imaging Respiratory Diaphragm Schizophrenia SCID Mice Tilia TRIO protein, human

Diagnosing Pulmonary Aspergillosis in COVID-19

For the diagnosis of pulmonary aspergillosis associated with SARS-CoV-2 infection (CAPA), the modified ECMM/ISHAM 2020 consensus (*) criteria were applied [1 (link)]:
Proven CAPA: IPA confirmed by the histological specimen (lung biopsy or autopsy) or direct lung or tracheobronchial microscopy.
Probable CAPA: Compatible clinical and imaging findings (pulmonary infiltrate or nodules preferably documented by chest CT or cavitating infiltrate), with microbiological isolation of Aspergillus in BAL, or galactomannan (GM) in BAL >1, or GM in serum >0.5 or positive PCR in serum (not available in this study), or positive PCR in BAL (<36 cycles) (not available in this study).
Possible CAPA: Compatible clinical and imaging findings, with microbiological isolation of Aspergillus in respiratory specimens other than BAL: TBA, sputum. Possible pulmonary CAPA requires pulmonary infiltrates, well-circumscribed lesions(s) or nodules, preferably documented by chest CT, or cavitating infiltrate, which is not attributed to another cause. In patients with bilateral, ground-glass opacities or other COVID-19 related findings, significant radiological changes as previously mentioned and confirmed by an expert radiologist were required to be considered possible CAPA. The ECMM/ISHAM 2020 consensus includes non-bronchoscopic lavage as a diagnostic tool (*). Non-bronchoscopic lavage was not performed in this study In this series, these were replaced (only in patients with SARS-CoV-2 infection) with non-bronchoscopic samples: TBA, sputum.
Probable Traqueobronquitis: The presence of tracheobronchial ulceration, nodule, pseudomembrane, plaque, or eschar seen on a bronchoscopic analysis together with visualization of hyphae or isolation of Aspergillus spp. in culture.
Colonization was considered in patients with no radiological findings or unchanged with respect to those attributed to COVID-19.
In case of belonging to more than one group, they were prioritized as follows: In patients with SARS-CoV-2 infection, the modified ECMM/ISHAM 2020 consensus was always applied. In patients without SARS-CoV-2 infection, the EORTC/MSG criteria were taken into account first, then the AspICU criteria and finally the Bulpa criteria.
A separate analysis was performed according to IPA. PPP-IPA integrated the diagnoses of proven, probable/putative, and possible IPA, regardless of the criteria used; in this case, the remaining patients included in the series were considered colonized. PP-IPA integrated only the diagnoses of proven and probable IPA; in this case, the diagnoses of possible IPA were analyzed together with the colonized patients.

Fortún J., Mateos M., de la Pedrosa E.G., Soriano C., Pestaña D., Palacios J., López J, & Moreno S. (2023). Invasive Pulmonary Aspergillosis in Patients with and without SARS-CoV-2 Infection. Journal of Fungi, 9(2), 130.

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Publication 2023

Aspergillus Autopsy Biopsy Bronchopulmonary Aspergillosis Bronchoscopes Chest COVID 19 Dental Plaque Diagnosis Episodic Ataxia, Type 2 galactomannan Hyphae isolation Lung Microscopy Patients Radiologist Respiratory Rate Serum Sputum Ulcer Vision X-Rays, Diagnostic

Diagnosis Criteria for Invasive Pulmonary Aspergillosis

For the diagnosis of IPA in patients without SARS-CoV-2 infection, the recently modified EORTC/MSG criteria (in immunocompromised patients) [13 (link)], the AspICU definitions for probable/putative IPA, in ICU patients [14 (link)], and the Bulpa criteria, in patients with chronic obstructive pulmonary disorder (COPD) [15 (link)] were considered. Proven IPA in these patients was like proven CAPA.
For the diagnosis of probable IPA, according to the EORTC/MSG criteria [13 (link)], the presence of at least one of the following four patterns of CT was required: dense, well-circumscribed lesions(s) with or without a halo sign, air crescent sign cavity, wedge-shaped and segmental or having a lobar consolidation, in combination with Aspergillus spp. isolation in respiratory samples, or a positive GM in serum or BAL, or a positive direct test (cytology, direct microscopy).
For the AspICU criteria [14 (link)], the following combination was required for the diagnosis of putative/probable IPA: (1) microbiological criteria: isolation of Aspergillus spp. in the lower respiratory tract, or serum positive GM (>0.5, repeated), or positive GM in BAL (>1.0); (2) compatible signs and symptoms (one of the following): (a) fever refractory to at least 3 days of appropriate antibiotic therapy, (b) recrudescent fever after a period of defervescence of at least 48 h while still on antibiotics, without other apparent causes, (c) pleuritic chest pain or rub, (d) dyspnea, (e) hemoptysis, or (f) worsening respiratory insufficiency despite appropriate antibiotic therapy and respiratory support; and (3) abnormal medical imaging by portable chest X-ray or CT scan of the lungs.
For the diagnosis of IPA in COPD patients, the following criteria were used [15 (link)]:
Probable IPA: GOLD (stage III or IV) with recent exacerbation of dyspnea, suggestive chest imaging, and one of the following: (1) positive culture and/or microscopy for Aspergillus from the lower respiratory tract (LRT); (2) positive serum antibody test for A. fumigatus (including precipitins); (3) two consecutive positive serum GM tests.
Possible IPA: like probable IPA but without positive Aspergillus culture or microscopy from LRT or serology.

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Publication 2023

Air crescent sign Antibiotics Aspergillus Chest Chest Pain Chronic Obstructive Airway Disease COVID 19 Cytological Techniques Dental Caries Diagnosis Dyspnea Episodic Ataxia, Type 2 Fever Gold Hemoptysis Immunoglobulins Induced Hyperthermia isolation Lung Microscopy Patients Pleurisy Precipitins Recrudescence Respiratory Insufficiency Respiratory Rate Respiratory System Serum Therapeutics X-Ray Computed Tomography

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CAPA 6506 is a laboratory equipment product offered by Perstorp. It is designed for use in various scientific and analytical applications. The core function of CAPA 6506 is to perform precise and accurate measurements, but a detailed description cannot be provided while maintaining an unbiased and factual approach.

Chloroform by Merck Group

Sourced in United States, Germany, United Kingdom, India, Italy, Spain, France, Canada, Switzerland, China, Australia, Brazil, Poland, Ireland, Sao Tome and Principe, Chile, Japan, Belgium, Portugal, Netherlands, Macao, Singapore, Sweden, Czechia, Cameroon, Austria, Pakistan, Indonesia, Israel, Malaysia, Norway, Mexico, Hungary, New Zealand, Argentina

Chloroform is a colorless, volatile liquid with a characteristic sweet odor. It is a commonly used solvent in a variety of laboratory applications, including extraction, purification, and sample preparation processes. Chloroform has a high density and is immiscible with water, making it a useful solvent for a range of organic compounds.

Pcl capa 6500 by Perstorp

Sourced in Sweden

PCL CAPA 6500 is a laboratory equipment product manufactured by Perstorp. It is designed for specific technical applications, but I do not have detailed and unbiased information about its core function to present without interpretation or extrapolation.

Software by FlowJo

Sourced in United States, Germany, Canada, United Kingdom, Belgium, France, Italy, China

FlowJo is a software application designed for the analysis of flow cytometry data. It provides a comprehensive suite of tools for the visualization, gating, and analysis of single-cell flow cytometry data, enabling researchers to gain insights into complex biological systems.

Sas statistical software by SAS Institute

Sourced in United States, Austria, Japan, Cameroon

SAS statistical software is a comprehensive data analysis and visualization tool. It provides a wide range of statistical procedures and analytical capabilities for managing, analyzing, and presenting data. The software is designed to handle large and complex datasets, allowing users to perform advanced statistical modeling, regression analysis, and data mining tasks. The core function of the SAS statistical software is to enable users to extract insights and make data-driven decisions.

Tin 2 2 ethylhexanoate by Merck Group

Sourced in United States, Germany, France, Mexico, Japan

Tin(II) 2-ethylhexanoate is a metal-organic compound with the chemical formula Sn(C8H15O2)2. It is a clear, viscous liquid used as a catalyst and stabilizer in various industrial applications.

What is the main cause of Episodic Ataxia, Type 2?

What are the common symptoms of Episodic Ataxia, Type 2?

How can PubCompare.ai assist researchers studying Episodic Ataxia, Type 2?

PubCompare.ai's AI-driven protocol optimization can help researchers studying Episodic Ataxia, Type 2 in several ways. The platform allows you to screen protocol literature more efficiently, leveraging AI to pinpoint critical insights. This can help you identify the most effective protocols related to Episodic Ataxia, Type 2 for your specific research goals. The platform's AI-driven analysis can also highlight key differences in protocol effectiveness, enabling you to choose the best option for reproducibility and accuracy in your studies.

Are there different types or variations of Episodic Ataxia, Type 2?

Yes, while Episodic Ataxia, Type 2 is the most common form of the condition, there are other variations or subtypes. For example, Episodic Ataxia, Type 1 is a distinct genetic disorder characterized by brief episodes of ataxia and muscle stiffness. Researchers may need to consider these different types when designing and optimizing their studies on Episodic Ataxia.

How can PubCompare.ai help streamline the research process for Episodic Ataxia, Type 2?

PubCompare.ai's innovative tools can help streamline the research process for Episodic Ataxia, Type 2 in several ways. The platfrom's AI-powered comparisons can enable researchers to quickly identify the optimal protocols and products for their EA2 studies, enhancing accuracy and reproducibility. By leveraging the latest advancements in EA2 research from litereture, preprints and patents, PubCompare.ai can help researchers stay at the forefront of the field and make more informed decisions about their experimental approaches.

More about "Episodic Ataxia, Type 2"

Episodic Ataxia Type 2 (EA2) is a rare hereditary disorder characterized by recurrent episodes of uncoordinated muscle movements, balance difficulties, and vertigo.
This condition is caused by mutations in the CACNA1A gene, which plays a critical role in the proper functioning of nerve cells.
During episodes, individuals with EA2 may experience sudden onset of symptoms like nystagmus (involuntary eye movements), ataxia (lack of muscle coordination), and dizziness.
These episodes can last from minutes to hours, often triggered by stress, fatigue, or other environmental factors.
Researchers studying EA2 utilize a variety of tools and techniques to optimize their research protocols and workflows.
This includes leveraging AI-driven protocol optimization from platforms like PubCompare.ai, which helps identify the latest advancements and optimal approaches from published literature, preprints, and patents.
Other relevant tools and software that may be used in EA2 research include CAPA 6500, CAPA 6800, CAPA 6400, PCL, CAPA 6506, Chloroform, PCL CAPA 6500, FlowJo software, and SAS statistical software.
Tin(II) 2-ethylhexanoate may also be utilized in certain experimental procedures.
By combining these advanced tools and techniques, researchers can streamline their workflow, enhance accuracy, and gain deeper insights into the underlying mechanisms and potential treatments for this rare and debilitating genetic disorder.