User:CopperKettle

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I live in Ekaterinburg, Russia. As of 2019, I'm a freelance translator specializing in biochem, biotech and pharma. My interests include psychiatry and neuroscience. And history of Russia.

Kettle info
en-3This user can contribute with an advanced level of English.
ruРусский — родной язык этого участника.
This user has a page on Wiktionary.
This user contributes to the Neuroscience WikiProject.
This user participates in WikiProject Russia.
This user is a Citizen of the World (Terra, ⊕).
This user believes that all men are created equal.
This user supports the United Nations.
 This user supports immigration and the right to travel freely upon the planet we share.
LJThis user maintains a LiveJournal  as @copperkettle78.
USSR
USSR
I was born in the USSR.
This user is against communism.
Yo-burg city
CopperKettle is there somewhere
This user listens to Frank Zappa.
This user enjoys the works of
Truman Capote.
This user enjoys the works of
Isaac Asimov.
KV This user enjoys
the works of
Kurt Vonnegut.

George Orwell taught this user everything they need to know about the government.
FreThis user is a Fremen.
This user has Keratoconus.
This user has an interest in diabetes.
This user is interested in Peak Oil Theory.

I love the music of Bob Dylan, Boris Grebenshikov (Aquarium), Frank Zappa, Chumbawamba, Umka and Beethoven's string quartets. I enjoy skiing and jogging, playing tennis.

My favourite authors are Solzhenitsyn, Updike, Pelevin, Dostoyevsky, Vonnegut.

I participate in the Folding@home project. My last.fm account is here.

My Wikimedia page.


P.S. Reelin' cookies: If you know a foreign language into which Reelin is not yet translated, start a stub - and I will give you a cookie.

Pages I've started (about 149 thus far)

In no particular order, but generally newest up:

Articles To Start

  • Argyrophilic grain disease as a standalone
  • Restricted mean survival time (RMST) - alternative to hazard ratio in medical statistics
  • CPL500036 or CPL'36, prospective PDE10A inhibitor for schizophrenia, with a Phase 3 trial permitted in October 2025
  • Mutations of the NAXD gene cause the rare disease early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2).
  • PEBEL1 encephalopathy, or NAXE deficiency
  • Treatment-induced neuropathy of diabetes (TIND)
  • CHAC1 gene implicated in keratoconus via ferroptosis
  • Delayed posthypoxic leukoencephalopathy - may present with catatonia; very interesting regarding the mechanisms
  • Houge-Janssens syndrome-2 - mutations of the PPP2R1A gene
  • ?miR-144-3p associated with depression; but the article miR-144 already exists; suppression of miR-144-3p might improve GABAergic tone and relieve depression (chinese study 2025)
  • Dimephosphone (димефосфон) - Russian brain "cure-all", anti-acidosis drug; I wonder how it works and does it really decrease lactic acidosis of the brain.
  • ??Bitemporal glucose hypometabolism
  • Soleus push-up exercise might improve metabolism (MT Hamilton 2022, PMID 36034224)
  • ?Tissue-based assay (TBA) - can be used to detect autoimmune causes of psychosis
  • ?NSAID-induced corneal melt - see a 2020 review
    • COX1 is implicated in keratoconus; COX1 has vasodilatory action and its ablation reduces capillary flux in the brain.
  • ??Radically open dialectical behavior therapy (RO DBT) - Thomas R. Lynch
  • ?Syndrome of irreversible lithium-effectuated neurotoxicity (SILENT syndrome)
  • ?Regional homogeneity, ReHo, a measure in MRI brain scanning associated w/ depression and other syndromes
  • ?Henry Southgate, UK anthologist, (1818–1888), a native of London
    • ?Many thoughts by many minds - an anthology by him
  • ?Gastric beriberi, gastrointestinal beriberi - rare presentation of Thiamine deficiency
  • ?Small intestinal fungal overgrowth, SIFO - could associate with Brain fog
  • ?D-lactic acidosis
  • ??Dissociative subtype of PTSD - elevated 24h urinary cortisol (likely not)?
  • ?Down syndrome regression disorder (DSRD) - interesting studies suggesting blood-brain barrier dysfunction and associated immune reactions as a possible mechanism
  • TANGO2 deficiency, or Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) - see TANGO2
  • Neuronal intranuclear inclusion disease
  • ?Argyrophilic grain disease as a standalone
  • Hana Videen - history of English; see The Wordhord: Daily Life in Old English
  • ??Postprandial endothelial dysfunction
    • Probably mitigated by glulisine
  • ?Connshing Syndrome
  • ?Primary pigmented nodular adrenocortical disease
  • ?Mild autonomous cortisol secretion (MACS) - milder than Cushing's
  • ??Capillary stalling - a phenomenon reported in Alzheimer's, diabetes;
  • ? as a standalone? - Thyroid-stimulating immunoglobulin in Graves' disease; a case of catatonia despite normal thyroid tests in a 26 yo woman.
  • ?As a standalone: Low-grade glioma
- See this Italian consensus document on low-grade gliomas.
- European recommendations on pediatric low-grade gliomas
  • As a standalone: ?Dysarthria-clumsy hand syndrome due to mini-stroke; discovered by C. Miller Fisher in 1969
  • ?Covert brain infarction - very interesting
  • ??Episodic future thinking, if this is a robust concept. Came across it in a paper about anorexia nervosa.
  • Auditory Continuous Performance Test (ACPT) - ""effectively differentiates healthy people from those with psychosis" (2024)
  • ?Protein lactylation - for instance, of SNAP91, which happens due to exercise and confers resilience to stress
  • Childhood-onset striatonigral degeneration discovered in 2016
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome - FLVCR2 gene; also known as Fowler syndrome, not to be confused with Fowler's syndrome
  • Cystathionine beta-synthase deficiency as a standalone?
  • Chromosome 9p deletion syndrome - OMIM 158170
  • Levoleucovorin as a standalone - a formulation mentioned by Richard Frye in his update in 2024; efficacy not studied yet
  • Non-ketotic hyperglycemic hemichorea (NHH), also known as diabetic striatopathy or chorea, hyperglycemia, basal ganglia (C-H-BG) syndrome
  • ?Central retinal vein equivalent - elevated in keratoconus
  • ?Cerebrovascular reactivity
  • ?Central retinal arteriolar equivalent
Changes in keratoconus; marker associated w/ arterial stiffness
  • Mitochondrial complex III deficiency
  • Bottom-of-Sulcus Dysplasia, cause of focal epilepsy
  • ?John Maltsberger, psychoanalyst, investigated suicide
  • ?Onconeural antibodies sometimes present with psychiatric symptoms
  • ?Translocator protein distribution volume (TSPO VT) - an index of gliosis
  • Global cortical atrophy scale, Pasquier scale, GCA scale
  • ??Salpêtrière Retardation Rating Scale
  • Intellectual developmental disorder-5
SYNGAP1 gene
CC-BY review, 2018, PMID 29402231
  • Cellular & Molecular Biology Letters journal
  • ??Nitric oxide synthase uncoupling
What's the role of L-arginine?
Review - CC-BY
Rather high impact factor
  • CHASERR - a lncRNA gene
Assoc w/neurodevelopmental disorder
Translate to Russian
  • ?Transdiagnostic Sleep and Circadian Rhythm Intervention, or TranS-C - reportedly reduces depression (study in 2024);
  • ??Respiratory muscle training, inspiratory muscle training
  • ??Si-based agent, Silicon-based agent
  • ?Methionine synthase reductase deficiency - psychiatric symptmos
"CblE type"
  • ?Holotranscobalamin, also HoloTC, presumably a good marker of B12 status
used in phrases like HoloTC assay
Also known as Non-ketotic hyperglycaemic seizures
  • ?Aperiodic activity - EEG activity associated with ECT efficacy etc.
  • ?Hypomyelinating disease as opposed to Demyelinating disease
Or Hypomyelinating leukodystrophies - see a 2020 review
  • SLC30A9 - variations traced back allegedly to Denisovans; mental illness
  • ??DOCKopathies - DOCK9 is associated w/keratoconus 7
  • ?Dystroglycanopathies
  • ??Multicystic encephalomalacia - present in Russian as Мультикистозная энцефаломаляция
  • ??? Typhoid psychosis
  • ?? Chemiluminescent Microparticle Immunoassay (CMIA)
  • ?Kristy Red-Horse of the North American Vascular Biology Organization
  • ??Natural autoantibodies - O.o Could be low in some cases of autism
  • ??Cystic Neutrophilic Granulomatous Mastitis
  • ??13q32 - related genes? KC, SZ
  • LNPK gene - developmental disorder, seizures (2018)
  • ?Cooking fuel, to cover effects on development?
PMID: 37419197 DOI: 10.1016/j.envres.2023.116528
- related to Orphan gene?
  • ??Subcallosal cingulate predicts effects of DBS in treatment resistant depression
  • Human Psychopharmacology: Clinical and Experimental published since 1986, IF 2
  • ??Massively parallel reporter assay (MPRA)
  • Resolvin D1 may treat depression
See Resolvin
  • Inherited glycosylphosphatidylinositol deficiencies
They include Mabry syndrome; their number is estimated at 19 or 21
  • ??Random dot matrix tasks - for example, in OCD
  • ?NRXN1 deletion syndrome
  • ?? Hot sause paradigm
  • Fecal lactoferrin for distinguishing between IBD and IBS
  • ?? Antibody-mediated psychosis, Autoimmune psychosis
Article in The Guardian, 2023
  • Short-chain-enoyl-CoA hydratase - ECHS1
    • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
  • ? Central vitamin B12 deficiency caused by antibodies to CD320, first announced in 2023
  • ?? Emotional reactivity
  • Augmented Depression Therapy (ADepT)
  • Пиріг і Батіг - гарний фолк-гурт, з мови
  • ? Zagociguat - investigational drug for MELAS, cognition in SZ
  • ?? Standalone for Intranasal insulin? Effects on epilepsy, on cognition, in Alz, etc.
  • ?? Standalone for Praxis-induced reflex seizures?
  • ?? Standalone for Eating epilepsy, a form of reflex epilepsy?
  • ? Standalone for Sunflower syndrome?
  • ? Standalone for Nonconvulsive status epilepticus?
Reviewed in PMID 28144933
Amazing case in PMID 8683509 (misdiagnosed as psychiatric for 10 years, then cured)
  • ?Non-motor seizures, such as Sensory seizures and Somatosensory seizures
  • ?Medium-chain triglyceride ketogenic diet, MCT ketogenic diet
-- as a standalone from Ketogenic diet
  • ?James Davies (author) - "Cracked: Why Psychiatry is Doing More Harm than Good"
  • ?Snaith-Hamilton-Pleasure-Scale, SHAPS
  • ??? Mitohormesis > as a standalone
  • ??Anti-basal ganglia autoantibodies, Anti-basal ganglia antibodies
  • ??Basal ganglia encephalitis
  • ?Exogenous insulin antibody syndrome (A 2018 review)
Or as part of Insulin autoimmune syndrome (exists)?
  • ??Hypoglycorrhachia
  • ?Cyclic Cushing’s syndrome - extra-rare?
  • ?Inspiratory muscle training, IMT, or Inspiratory muscle strength training, IMST
"In a group of healthy adults, those who practiced high-resistance IMST for 30 breaths a day for six weeks saw their systolic blood pressure—the first number in a reading—drop by 9 millimeters of mercury"
  • ??Adrenal hypertrophy in rodents, measured to assess stress in animal studies.
  • ?Three bags task - measures maternal supportiveness
  • Count Down (Shanna Swan book) - endocrine disruptors & sperm count
  • Spastic paraplegia 56 - gene: CYP2U1
Folate supplementation prevents cognitive decline in mouse model (curious)
Signs of putative folate deficiency in patients (see OMIM)
  • and Coefficient of fat absorption (72 h fecal collection)
Psychologist, author of books, Uni of Toronto
In some: "psychiatric abnormalities, including depression, bipolar disorder, hallucinations, aggressive behavior, and suicide attempts" (see OMIM)
  • ??Non-anemic iron deficiency, Isolated absolute iron deficiency
Might be assoc w/depression
(2021)(REVIEW)(CC-BY) Iron, neuro-bioavailability and depression in eJHaem (IF: 4)
  • Test of Detection of Cognitive Impairment in Alcoholism, TEDCA
  • Dextran sulfate sodium to induce colitis
  • Autosomal dominant intellectual developmental disorder 51
OMIM 617788
linked to autism
  • ??Jacqui Dillon
  • ?Corneal melting in pregnancy
CC-BY images
  • ?Causes of treatment-resistant epilepsy
  • ?Shankopathy or SHANKopathy (psychiatric disorders)
2021 review on Shankopathies in autism
  • PGAP2 - stress, mental retardation HPMRS type 3
Corrected with folinic acid: case report 2022
"miR483-5p/Pgap2 pathway regulates anxiety"
  • miR-483-5p plays a role in stress reduction
  • Serial dependence (psychology) is a phenomenon that biases the perception of features or objects systematically toward sensory input from the recent past (Fischer & Whitney, 2014).
  • Neurodevelopmental disorder with speech impairment and with or without seizures, NEDSIS
OMIM 620144, gene: CACNAC1I
This gene is assoc with both SZ and OCD
  • ?Stages of Objective Memory Impairment (SOMI) for dementia prediction in the elderly
  • ?Hyperorality
"common in early stage bvFTD, arising prior to cognitive and neuroanatomic changes" (Christopher Morrow et al., 2022)
  • Birk-Landau-Perez syndrome OMIM 617595
SLC30A9 gene
  • MEPAN syndrome - OMIM 617282
Ameliorated by lipoic acid, presumably
  • ?Prednisolone suppression test in depression
"prednisolone should provide a more valid test of the HPA axis in depression" (Juruena et al 2018)
  • Deciphering Developmental Disorders study
  • Viktor Mutt
Discovered galanin
as a standalone
As a separate page?
  • EDICT syndrome
mir-184, assoc w/keratoconus
  • ?Anterior polar cataract
Assoc w/keratoconus
In Glutathione defiency (transient, for instance, with acetaminophen)
  • ?erythrocyte glutathione reductase activation coefficient, EGRAC
Detection of Riboflavin deficiency
redox/inflammation
  • ?Minipuberty
  • Riboflavin-responsive diseases -
The list in this review
Into a separate article. Riboflavin as treatment
  • Labyrinthine aplasia, microtia, and microdontia syndrome - LAMM syndrome
FGF3 gene
  • ?SLC25-associated diseases (List)
CC-BY Review 2020
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
  • EARS2 gene, mitochondrial enzyme
Defects found in 2 patients with CFD
  • combined oxidative phosphorylation deficiency, subtype 12
  • combined oxidative phosphorylation deficiency 12
Blunted in schizophrenia, linked to arachidonic acid pathway
Obesity, inflammation
  • Developmental and epileptic encephalopathy 4
A form of Ohtahara syndrome?
OMIM 614671
  • Pontine tegmental cap dysplasia
OMIM 614688
  • Lopes-Maciel-Rodan syndrome
Huntingtin gene hypofunction
Write more
Autistic features
rare but curious
  • ?chronic unpredictable stress paradigm for depression studies
  • ?Preclinical Alzheimer Cognitive Composite
  • ZMYM4 gene
Could be assoc w/schizophrenia via rs72657988
  • ?Drinking in the dark - mouse model of binge drinking
  • ?Maternal immune activation
  • ??Primary antibody deficiencies
Assoc w/psych disorders in offsprings
  • Heyn-Sproul-Jackson syndrome
any link to folate metabolism?
Decreased in SZ, Bipolar
  • Intellectual developmental disorder with autism and macrocephaly
Gene CHD8
putative: inflammation triggered in blood by the cardio-lung-bypass machine
Investigated in ALZ's Disease, Parkinson's
  • Neurodevelopmental disorder with language delay and seizures
TIAM1 gene
  • ?Sociovirology, in measles - causing encephalitis
  • ?MAP4343, investigative antidepressant
Pregnenolone derivative; might be used in alcoholism
  • Sinking skin flap syndrome
  • SORCS3 - ADHD, other psych disorders
  • Collapsin response mediator protein 2 - ass w/psychosis
Lasosamide - induced psychosis case
CRMP2 and betaine? O_O
  • ?Maximal electroshock seizure (MES) test of antiepileptic drugs
  • Immunodeficiency, developmental delay, and hypohomocysteinemia
OMIM 617744
Gene - NRF2, related to keratoconus
  • ?Frontotemporal brain sagging syndrome
??CSF-venous fistula - source
  • ?Corneal leukoma
  • Metabolic epilepsy
2022 Review of numerous genes/causes: PMID 35328062 (CC-BY 4.0)
  • ? Primary Neurotransmitter disorders
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Gene: TYROBP
  • Swertiamarin
Putative neuroprotection in Parkinson's; counters inflammatory cytokine signaling
  • AMED syndrome - gene - ADH5
  • Lawrence F. Eng (-2004) - neuroscientist, discovered Glial fibrillary acidic protein
  • Developmental delay with or without intellectual impairment or behavioral abnormalities
OMIM 619575
gene - TAOK1
  • Quinolone-induced psychosis or fluoroquinolone-induced psychosis
Prompted by a report on a psych forum of depression/halluc. of a guy on cyprofloxacine
Example review (2020) in PubMed
Gene: WDR45
  • Parkinsonism-hyperpyrexia syndrome
On withdrawal of dopamine medication
CC-BY 2022 review in Cureus
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Gene: KDM6B, could be associated with CFD
  • Takenouchi-Kosaki syndrome
Mutations in CDC42 which affects dendritic spines
  • Pyridoxal phosphate-binding protein, PLPBP
Linked to Early-onset vitamin B6-dependent epilepsy (OMIM 617290)
  • Canalization (psychology)
Is it worth reading? (example article)
convert to standalone?
Muscarinic, for schizophrenia
  • malondialdehyde-lysine - MDALys
  • advanced lipoxidation end-products
Includes malondialdehyde, elevated in keratoconus serum
  • Carl Wilhelm Sem-Jacobsen
First to attempt DBS in Parkinson's
  • Chromosome 15q11.2 deletion syndrome
Autism and other manifestations; one of the genes: CYFIP1
Two OMIM numbers: 613444 and 611913
  • ??α-aminoadipic semialdehyde
Alpha-aminoadipic semialdehyde
of the book "Plague Cycle"
  • NMRAL1 gene, linked to SZ
  • ?Scleromalacia perforans in Rh. arthritis
  • SLC46A2
Possible target of methotrexate in psoriasis
  • ??standalone PTEN hamartoma tumor syndrome
  • ??Fox eye shield
  • ?Functional cognitive disorder
  • ?Myoedema with mounding of muscle in hypothyroidism
  • ?Infant head lag
  • Intellectual developmental disorder, autosomal dominant 53
Mutations in CAMKIIα
Autism spectrum
  • Antoine Lembert, Parisian surgeon, inventor of eponymous suture technique in 1826
  • ??Secretin stimulation test of pancreatic exocrine function
  • Hippocampal Splitter cell, also trajectory-dependent cell
  • Bachmann-Bupp syndrome
and ODC1 disorder - distinct?
  • ??Polly Murray, patients' advocate, prompted the discovery of Lyme disease
    • The Widening Circle, her book of 1996
  • Emraclidine, investigational drug for schizophrenia
  • Hermann Doose
see myoclonic astatic epilepsy, aka Doose syndrome
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
the RAC3 gene
  • Mitochondrial complex I deficiency
ACAD9
Gene: MRE11A
  • β cell expansion factor A, Beta cell expansion factor A, BefA
protein that might be useful in diabetes
  • PXDNL - possible association with reaction to antidepressants
  • ??Congenital NAD deficiency disorder
    • Might be too early to start it; see OMIM 617660 and 617661
  • ?Hypoketotic hypoglycemia
For instance, in deficiency of the mitochondrial folate transporter
  • ?Standalone for Quincke's sign - nailbed pulsation in aortic regurgitation
  • ??Electrical status epilepticus in sleep
  • Small-bowel diaphragm disease or NSAID-induced small bowel stricture
NSAID-induced
  • autosomal dominant intellectual developmental disorder-66
gene: ATP2B1
  • ??Prostaglandin-Associated Periorbital Syndrome
  • ??Maternal autoantibody-related autism spectrum disorder
  • Kleefstra syndrome-2, the gene is KMT2C
Mutations in the gene might be associated with BH4 deficiency in refractory depression, per Lisa Pan et al., 2020
  • ZNF544
Variants found in patients with refractory depression and BH4 deficiency by Lisa Pan et al., PMID 32128872
The same snp rs79258645 as in Lisa Pan et al is associated w/keratoconus Layal Fadi Abi Farraj, 2015
  • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Mutations in NR4A2
  • ??Phe loading test, Phenylalanine loading test (per guideline
  • ??Treatabolome, treatable metabolic derangements
  • ?Functional cognitive disorder
  • ?Masaya Segawa, see Segawa syndrome
  • International Parkinson and Movement Disorder Society
Exists in German Wikipedia
  • ??Desmopressin stimulation test
To distinguish Cushing's from Pseudo-Cushing's
Deficient serine transport into the brain
Disfunction in cerebral folate deficiency
Reviews: 2019 with mention of CFD
  • ?Vitamin B6–responsive seizure disorders
See, for instance, table 1 here or a similar table in this CC-BY review (2021)
  • Pyridoxamine 5'-phosphate oxidase deficiency
See Pyridoxine 5′-phosphate oxidase
Possible use in depression: review
  • ?Folate trap in folate metabolism
  • ?Oculomics - research of eye-based biomarkers of non-ophthalmological pathology
Schizophrenia in Translation: Why the Eye?
  • Hypomyelinating leukodystrophy 6, also known as Hypomyelination with atrophy of basal ganglia and cerebellum
Mutations in TUBB4A
Might be associated with cerebral folate deficiency
  • Pyridoxal phosphate-binding protein
accompanied by cerebral folate deficiency? Folinic acid helps, per PMID 31340680 (review)
  • Corneal endothelial dysfunction
  • Cone-rod dystrophy 7
  • ?m.8649_16084del, the second-most common mtDNA deletion in humans
  • ?Theta burst stimulation for depression
  • LAMM syndrome or Congenital deafness with labyrinthine aplasia, microtia, and microdontia
  • S-adenosylmethionine carrier, SLC25A26
  • Intrinsic factor deficiency - OMIM 261000
  • ??Peripheral nerve hyperexcitability
  • ?CASPR2-antibody encephalitis
  • Tatyana Gnedich, translated "Don Juan" while in Stalin's prison
  • ?Terminal ileitis
  • ?Branched-chain α-keto acid dehydrogenase kinase deficiency and autism
  • ?Long-chain fatty-acid oxidation disorders
  • ?Hypoketotic hypoglycaemia
    • for instance, in long-chain fatty-acid oxidation disorders
  • ?DDX3X syndrome, developmental delay
  • ??ERIraos, early detection of psychosis
  • Delta brush -- EEG pattern in neonates, esp. premature
    • ?Extreme delta brush - in anti-NMDAr encephalitis
  • Faciobrachial dystonic seizure in LGI1 encephalitis
  • LGI1-antibody encephalitis
  • ??Individual alpha peak frequency - in ADHD, prediction of treatment success
  • ??Cobalamin C deficiency -- is it the same as Methylmalonic acidemia?
  • ??Limbal stem cell deficiency, Corneal epithelial stem cell deficiency
  • ?Benign pancreatic hyperenzymemia, or Gullo syndrome
  • Macroamylasemia
  • Homocystinuria-megaloblastic anemia, cblG complementation type - mutations of methionine synthase
  • Beads task - The beads task (Phillips & Edwards, 1966) is an experimental task designed to examine individuals' reasoning style under ambiguous conditions.
  • Urrets-Zavalia syndrome
  • ?Washington Early Recognition Center Affectivity and Psychosis, or WERCAP, a screening test for schizophrenia
  • ?Adiponectin deficiency
  • Ventricular puncture
  • ??Yale Control Over Perceptual Experiences (COPE) Scales
  • ?Effort Expenditure for Reward Task (EffERT)
  • ?Multiple acyl–coenzyme A dehydrogenation deficiency, improved by riboflavin
  • ??Peters Delusion Inventory
  • ??Whisker trimming, Bilateral whisker trimming in model mice; neuroscience
  • ?RBMX2 - could be associated with rare familial bipolar disorder
  • ??16p11.2 deletion syndrome - assoc. w/ autism; lipid FAM57B gene may be infolved in psychiatric dysfunction
  • ??Allyn Walker, pedophilia researcher ("A Long, Dark Shadow: Minor-Attracted People and Their Pursuit of Dignity")
  • ???Stellage ganglion block as a standalone? Interesting.
  • ??Campana cell, Campana cells - retinal interneurons allegedly discovered in late 2021
  • ??Stanford neuromodulation therapy for depression
  • ?Biondi bodies -- (Biondi bodies (the “silver rings of Biondi”) are filamentous, ring-like or arc-like structures in the epithelium of the choroid plexus)
  • ?General alexithymia factor score - condensed Toronto Alexithymia Scale for autistic patients
  • ?Amylase awakening response - Changed in anxiety disorders
  • ?Epiplexus cell, Kolmer cell of the choroid plexus
  • ?Carnitine deficiency - has multiple causes
  • ??Food-dependent Cushing's syndrome as a separate article, linked to KDM1A?
  • ?Hyperamylasemia as a separate article, based on reviews?
  • NEDHSIL - severe autism, gene: MEF2C
  • ??Small dense LDL
  • mild non-BH4-deficient hyperphenylalaninemia - see DNAJC12
  • Poretti–Boltshauser syndrome, mutations of the LAMA1 gene
  • ??CIC-rearranged sarcoma, a subset of Ewing-like sarcomas
  • ??Dietary Inflammatory Index, or DII
  • ??Progressive Encephalomyelitis With Rigidity and Myoclonus, PERM syndrome
  • ?Familial hyperkalemic hypertension - mutations in CUL3
  • Anterior capsulotomy (psychosurgery), Anterior capsulotomy for OCD
  • Megalencephalic leukoencephalopathy with subcortical cysts-2A, HEPACAM gene
  • ?Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia 7 - assoc. w/keratoconus
  • ?Branched-chain ketoacid dehydrogenase kinase deficiency - see BCKDK; assoc. w/autism
  • ??Cerebral creatine deficiency syndromes -- assoc. with autism-s-d
  • ??Representational drift (in neuroscience)
  • ?Per2AS, noncoding gene of sleep/wake cycle in mice
  • Carol Donner author of The Magic Anatomy Book
  • ?Encephalitis with Anti-SOX1 Antibodies, Anti-SOX1 encephalitis
  • ??Ketamine bladder syndrome
  • ???Carbonyl stress - or is it covered in Reactive carbonyl species?
  • Traboulsi syndrome - corneal issues
  • ??Anticholinergic cognitive burden score, ACB score
  • ??Alpers-Huttenlocher syndrome - is the same as Alpers disease?
  • ??DDX3X-Related Neurodevelopmental Disorder
  • ??Presence hallucinations in Parkinson's
  • Metzincin, or Metzincin family of enzymes
  • Duplication 9p, 9p duplication syndrome
  • ADAMTSL family
  • ??Ewing-like sarcoma
  • ??CIC-DUX4 fusion sarcoma
  • Hypothyroid myopathy - Hoffman's syndrome in adults case
  • OGT-linked Congenital Disorder of Glycosylation (OGT-CDG) discovered in 2021
  • ??Monocyte-to-HDL-cholesterol ratio (MHR), elevated in keratoconus
  • ?Phenylalanine deficiency - iatrogenic condition resulting from strict Phe-restricted diet -- Case (2013)
  • ??BH4 loading test, not sure
  • ?Pterin-4-alpha-carbinolamine dehydratase deficiency, a form of BH4 deficiency
  • ?Miners' nystagmus - early 20th century
  • Protocadherin 19, PCDH19
  • Mitochondrial folate transporter or SLC25A32 - OMIM 138840,
  • ??pseudo-methylenetetrahydrofolate syndrome induced by folic acid overdose
  • ?Syndrome of Irreversible Lithium-Effectuated Neurotoxicity
  • ?Childhood Trauma Questionnaire
  • ??Large neutral amino acids relevant to BH4 deficiency, PKU
  • Seymour Kaufman (1924-2009), biochemist, discoverer of BH4
  • DNAJC12 deficiency - OMIM 617384
  • ?Phenylalanine loading test can be used to detect disorders of metabolism presenting BH4 without HPA
  • ?Masaya Segawa (1936-2014) - Segawa disease, GTP cyclohydrolase I deficiency
  • ??phenylalanine loading test
  • 5,10-Methenyltetrahydrofolate synthetase - deficiency of this reminds of CFD
  • Pierson syndrome
  • Howard Allen Pearson (-2016)
  • Newcastle Mitochondrial Disease Ratings Scale after the city
  • LIC syndrome -- NSMCE3 gene
  • Fried syndrome assoc. w/mutations in AP1S2 (a gene assoc with a case of Cerebral folate deficiency)
  • ?Reversal learning - тест на переучивание навыка
  • ?Spadin - Spadin is a synthetic peptide derived from sortilin which was shown to block TREK-1 with high affinity. Spadin antidepressant activity appears to be mediated through PI3K and Akt activation.
  • Riboflavin transporter deficiency or Riboflavin transporter deficiency neuronopathy
  • Thiamine-responsive basal ganglia disease (source) OMIM
  • NEDAMSS syndrome described in 2018
  • ?Bronchodilator reversibility test in COPD
  • ?The Wessler test in animals has been used extensively for over 40 years as a laboratory measure of in vivo hypercoagulability.
  • ?Intra-Extra Dimensional Set Shift - a take on the Wisconsin Card Test
  • ??Chorioretinal atrophy associated with Cerebral folate deficiency in one case report.
  • focal electrically administered seizure therapy, or FEAST
  • Separate Theta-burst stimulation or TBS
  • ?Reward positivity potential, or RewP
  • Pierson syndrome OMIM 60949
  • ?Familial temporal lobe epilepsy, esp. type 7 assoc with RELN
  • Harel-Yoon syndrome
  • ?Luft disease - the rarest yet the earliest to be described
  • CAD deficiency
  • Hydromethylthionine - used to treat dementia
  • ?Noncoring needle (Huber needle)
  • cblC type methylmalonic acidemia, CblC type methylmalonic acidemia
  • Tyrosine hydroxylase deficiency - associated (?) with cerebral folate deficiency? case report, case report
  • ???Folate-binding proteins assay
  • ??Unmetabolized folic acid might be harmful in excess
  • ?Methylcobalamin deficiency complementation group G OMIM 250940
    • also called Homocystinuria-megaloblastic anemia, cblG complementation type
    • Caused by mutations of Methionine synthase
  • ?Disorders of intracellular cobalamin metabolism
  • ?Uchida-Kraepelin test requires focused effort and attention
  • ?Autosomal dominant adult-onset demyelinating leukodystrophy - linked to Lamin B1 mutations, OMIM 169500
  • ?Lamin B1 deficiency - in rare cases, depression? (Lisa Pan)
  • Deep anterior lamellar keratoplasty
  • ?STXBP1 syndrome
  • ??Dysfunctional Attitude Scale
  • ?Red blood cell folate - an indicator of the folate status
  • Adaptinopathy such as the Pettigrew syndrome
  • Pyridoxamine 5′-phosphate oxidase (PNPO) deficiency
  • DNAJC12-deficient hyperphenylalaninemia
  • Glutamate formimidoyltransferase deficiency - elevated folates
  • MTHFD1 deficiency - rare; may cause cerebral folate deficiency
  • MTHFS deficiency - very rare, only two cases by 2019
  • GTP-cyclohydrolase deficiency - a single case of treatment-resistant depression
" is the second most common of the known inherited disorders of folate metabolism" 18 cases
  • ?Isotype control antibody, or simply Isotype control
  • Navajo neurohepatopathy (NNH; 256810)
extremely strange Luft's disease
  • ..and atrichoblasts

  • The disorder has received several names, including acute diffuse lymphocytic meningoencephalitis,2,3 acute reversible limbic encephalitis,4 acute juvenile female nonherpetic encephalitis,1 or juvenile acute nonherpetic encephalitis.

(see Felix Jacob Marchand)
see PMID 11739428 (high-prev. in CAH)
see a review of rests in CAH
(Cochet-Bonnet aesthesiometer )

Articles to expand and improve

  • Secondary predicate
  • Rickets - if "Magnesium-dependent vitamin-D-resistant rickets" is a real thing, add a mention.
  • Antiphospholipid syndrome - add info on psychiatric presentations (antibodies to annexins? Annexins are linked to p11, which is implicated in depression)

Articles to improve:

Would be great to translate:

  • Into Russian:
Endocrinology:
Ukrainian music:
Psychiatry etc.:
For depression/anxiety
  • P11 for its role in depression.
  • PON1 together with MTHFR affects 5-MTHF metabolism, may be protective in schizophrenia by increasing CSF 5-MTHF
Authors:
Studied DHPR defiency in 1975-2000 (2016 review)
  • Levodopa-induced Dyskinesia
Nitric oxide a culprit (NO also involved in autism?)
May be compounded by oxitocin deficiency, causing anxiety
Also improve: add info on falsely elevated free urine 24h cortisol
Curious 2023 meta-analysis
GABA breakdown inhibitor
Assoc with keratoconus
Metabolism changed in depression, other disorders

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First get HGNCID here, next populate using this tool here.

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I assert to be the same user as commons:User:CopperKettle --CopperKettle 14:03, 22 February 2007 (UTC)

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