ALCOHOLISM-RELATED DIAGNOSES


The circumstances of the alcoholic are not good, and require "escaping from his own insane premises, which are continually reinforced by the surrounding society." https://en.wikipedia.org/wiki/Pharmakon_(philosophy) [2339]

SAMHSA (Substance Abuse and Mental Health Services - USA) definition of binge drinking: 5 or more drinks (6-8 oz) for males, or 4 for females one day or more in a month

Binge drinking is defined as five or more days in a month.

The European definition is 50g on a single occasion in a week.
https://www.adicciones.es/index.php/adicciones/article/download/293/293 [2340]


Nails

Spoon shaped, brittle or ridged
See koilonychia pictures at https://www.fortunejournals.com/articles/familial-koilonychia-associated-with-male-infertility.pdf [2533]


Dysprosody

This means the patient is required to say, for example, “I need to go the bank today,” first in a happy tone, then an angry tone, then a sad tone, then a bored or indifferent tone. The patient with dysprosody will generally sound “monotone,” unable to change the affective tone of voice as requested.


Dysdiadochokinesia

"...the inability to perform rapid alternating muscle movements. These can be quick, synchronous, and can include pronation/supination, fast finger tapping, opening and closing of the fists, and foot tapping"

"Dysdiadochokinesia is a symptom of a category of neurological problems known as ataxia. Patients with ataxia can present with the following symptoms:

"Problems with balance and walking, including slowness, or awkward movements.

"Poor coordination of the arms, hands, or legs.

"Inarticulate or incomprehensible speech and difficulties with swallowing.

"Difficulty stopping one movement and starting another in the opposite direction.

Tremors, weakness, spasticity, inability to move the eyes, and loss of sensitivity in the hands and feet."

and

"...tests include:

"Having the patient alternately flip each hand from palm side up to palm side down as quickly as possible on a stable surface like a table

Asking the patient to demonstrate the movement of turning a doorknob or screwing in a lightbulb;

Having the patient tap their foot quickly on the floor or examiner’s hand

Asking the patient to repeat syllables such as “papa”, “kaka”, “lala”

A person with dysdiadochokinesia will be unable to perform the above tests in a correct and coordinated fashion. Their movements may be slowed, unusual, or clumsy."
https://www.verywellhealth.com/dysdiadochokinesia-in-ms-2440863 [2337]


Cerebellar Syndrome

Ataxic dysarthria is due to incoordination caused by damage to the cerebellum. Distinguishing features are irregular articulatory errors, equal and excessive stress on syllables, and inappropriate variation of pitch and loudness.

"Ocular instability, nystagmus, saccadic intrusions, impaired smooth pursuit, impaired vestibulo-ocular reflex (VOR), and ocular misalignment are at the core of oculomotor cerebellar deficits. As a motor speech disorder, ataxic dysarthria is highly suggestive of cerebellar pathology. Regarding motor control of limbs, hypotonia [decreased muscle tone], a- or dysdiadochokinesia, dysmetria, grasping deficits and various tremor phenomenologies are observed in cerebellar disorders to varying degrees. There is clear evidence that the cerebellum participates in force perception and proprioceptive sense during active movements. Gait is staggering with a wide base, and tandem gait [heel to toe test] is very often impaired in cerebellar disorders. In terms of cognitive and affective operations, impairments are found in executive functions, visual-spatial processing, linguistic function, and affective regulation (Schmahmann’s syndrome). Nonmotor linguistic deficits including disruption of articulatory and graphomotor planning, language dynamics, verbal fluency, phonological, and semantic word retrieval, expressive and receptive syntax, and various aspects of reading and writing may be impaired after cerebellar damage."
https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5565264&blobtype=pdf [2338]


Opsoclonus

"Opsoclonus is an oculomotor dyskinesia characterized by rapid, repetitive conjugate eye movements that are involuntary, arrhythmic, chaotic, and multidirectional (horizontal, vertical, and torsional components) without intersaccadic intervals."

and

"It is most pronounced when the patient is awake and attempting fixation. However, it persists during convergence and when eyelids are closed, in the dark, and during sleep. Visual blur and oscillopsia are common complaints in patients with opsoclonus due to the large amplitude and high frequency of the oscillations.

Opsoclonus differs from opsochoria, which involves disconjugate eye movements and ocular flutter, which is also an ocular dyskinesia that is restricted to the horizontal plane of eye movements. Opsoclonus differs from nystagmus as the phase resulting in the eye movement away from the target is always a saccade. When opsoclonus presents with myoclonus and/or ataxia, encephalopathy, generalized tremor, or impaired cognition and behavioral changes, it is classified as an opsoclonus-myoclonus syndrome (OMS), which often is referred to as the ‘dancing eye and dancing feet syndrome.'"

Recommended procedures in evaluation:

"Every patient presenting with opsoclonus or OMS requires comprehensive diagnostic investigation, including neuroimaging of the entire neuro-axis with contrast and a lumbar puncture. After exclusion of central nervous system (CNS) disease, investigations for occult malignancy as well as toxic, metabolic, and para-infectious causes must commence. A computed tomography (CT) scan of the chest, abdomen, and pelvis should be performed in all patients, and if unrevealing, a positron emission tomography (PET) scan should ideally be performed in all patients, especially in those over 40 years of age.Even though autoantibody testing is of limited diagnostic value, it is still advocated as their presence would confirm a diagnosis of paraneoplastic opsoclonus or OMS. In women, mammography and a thorough gynecological examination should be performed, and anti-Ri antibody titers should be checked."

Toxicological causes are

Alcohol intoxication
Amphetamines
Barbiturates
Benzodiazepines
Ketamine
Lithium
Phencyclidine
Phenytoin
Salicylates
SSRI toxicity
Thiamine deficiency
https://www.ncbi.nlm.nih.gov/books/NBK564353 [2606]


Dysmetria

Dysmetria is the inability to control the distance, speed, and range of motion necessary to perform smoothly coordinated movements.


Dysmetria tests:

Finger-to-nose test. This test requires you to stretch out your arm and then touch your fingers to your nose.

Heel-to-shin test. This test requires you to lie down and bring your heel to the top of the opposite shin.

Imaging and genetic tests.


Diplopia

Diplopia is the medical term for double vision or seeing double. To test:

Do you see a double image with both eyes open or with one closed?

Does closing one eye makes the double image disappear?

Is the double image you're seeing horizontal or vertical? This helps to determine which eye muscles are affected.


Wernicke's Encephalopathy

Acute and reversible encephalopathy due to deficiency of thiamine (vitamin B1) - caused by poor nutritional absorption, intake or loss - most often alcoholism


Features:

Confusion - disorientation, indifference, inattentiveness.

Ataxia - stance and gait, polyneuropathy, cerebellar involvement, wide based gait, slow, short spaced steps.

Oculomotor dysfunction.


Pathophysiology of B1 deficiency:

Atrophy of the mammillary bodies [brainstem nuclei on the posteroinferior aspect of the hypothalamus] determines the extent of WE.

Associated with paraventricular haemorrages.

Thiamine is absorbed in the duodenum, is stored in the liver, moves around the body where it is activated by thiamine pyophosphate synthetase which places a pyrophosphate group on the thiamine.

Thiamine has a huge impact on glucose metabolism via pyruvate dehydrogenase, alpha-ketagutrerate dehydrogense, and transketolase.

Thiamine metabolizes lipids and carbs and maintains normal amino acid and neurotransmitter levels.

Impaired glucose metabolism decreases cellular energy.

The brain is vulnerable to impaired glucose, deficiency leads to hemorrgage and necrosis of the mammillary bodies.

Difficulties with movement and balance (cerebellum).

Heartrate and breathing (medulla).

Brainstem/cranial nerve issues.

The three main mechanisms of action of WKS:

Interference with conversion of thiamaine to thiamine pyrophosphate by blocking the synthetase enzyme.

Alcohol directly prevents the absorption of thiamine, by blocking gene expression of thiamine transporter 1 in the duodenum.

Blockage of the storage of thiamine in the liver.

WE to KS is a continuum.

WE classic triad: ophthalmoplegia, ataxia and confusion.

KS triad: amnesia, confabulation, personality change.

A definitive diagnosis is complicated as the clinical triad in WE may not be present in up to 90% of patients.

The hallmark sign of Wernicke's encephalopathy is ocular abnormalities especially nystagmus [the eyes make repetitive, uncontrolled movements, often resulting in reduced vision and depth perception and affecting balance and coordination. These involuntary eye movements can occur from side to side, up and down, or in a circular pattern].

Other oculomotor symptoms include cranial nerve involvement of oculomotor, abducens, and vestibular nuclei causing conjugate gaze palsies [inability to move both eyes together in a single horizontal (most commonly) or vertical direction].

Pupillary sluggishness [When the pupil is involved in a oculomotor nerve palsy, it is fixed and dilated (or minimally reactive).

A partially dilated pupil which reacts sluggishly to light suggests a relative pupil-sparing CN III palsy].

Ptosis [drooping upper eyelid], and anisocoria [unequal pupil size] are also common.
https://www.ncbi.nlm.nih.gov/books/NBK470344/ [2341]

Diagnosing - classical presentations: homeless, alcohol abuse, malnourishment.

Labs: complete blood count, liver function test, thiamine.

Imaging: MRI degeneration of the mammillary bodies, asymmetric mammillary bodies, finally with atrophy.

Without thiamine pyrophosphate, glucose transforms to lactic acid, and metabolic acidosis occurs.

Consequences: Korsakoff's Syndrome - irreversible encephalopathy

Potential causes:

anorexia
hyperemesis
fasting or starvation
GI surgery
malignancy
transplantation
hemodialysis or peritoneal dialysis
AIDS
alcoholism

Role of thiamine: required for enzymes: transketolase, pyruvate dehydrogenase a-ketoglutarate dehydrogenase


Symptoms:

Confabulation - classic symptom, but not present in all cases - the patient makes up memories to fill a story - but is not necessarily lying.

"Those who confabulate may simply be trying to ease the stress of their current situation by appeasing the interviewer, rather than purposefully attempting to subvert or aggravate it. Whether distorted memories of an actual event or the creation of an imagined one, confabulation should not be confused with intentional lying, or malingering, for personal gain."
https://www.oatext.com/confabulation-a-beginners-guide-for-legal-professionals.php [2344]


Other features of KS:

Marked and selective anterograde and retrograde amnesia

Anterograde amnesia concerns events after the damage.

Retrograde amnesia concerns events prior to the damage.

Apathy.

Normal and intact sensorium - sight, smell, hearing, touch are normal.

Attention and social behaviour relatively well preserved.

Dementia

Unaware of their own illness - don't have the insight - this fits in with confabulation and apathy - they don't really care, so they don't know they have an issue.


Sequelae:

Recovery is rare.



DIAGNOZE, POVEZANE Z ALKOHOLIZMOM

Okoliščine alkoholika niso dobre in zahtevajo "pobeg iz lastnih norih predpostavk, ki jih okolica nenehno krepi." https://en.wikipedia.org/wiki/Pharmakon_(filozofija) [2339]

Opredelitev SAMHSA (Substance Abuse and Mental Health Services - ZDA) za popivanje: 5 ali več pijač (6-8 oz) za moške ali 4 za ženske en dan ali več v mesecu.

Občasno pitje je opredeljeno kot pet ali več dni v mesecu.

Evropska opredelitev je 50 g ob eni priložnosti v enem tednu.
https://www.adicciones.es/index.php/adicciones/article/download/293/293 [2340]


Nohti

Žličkaste, krhke ali grebenaste oblike
Oglejte si slike koilonychije na https://www.fortunejournals.com/articles/familial-koilonychia-associated-with-male-infertility.pdf [2533]


Disprozodija

To pomeni, da mora pacient na primer reči: "Danes moram v banko," najprej v veselem tonu, nato v jeznem tonu, nato v žalostnem tonu, nato v dolgočasnem ali ravnodušnem tonu. Bolnik z disprozodijo bo na splošno zvenel "monotono" in ne bo mogel spreminjati afektivnega tona glasu, kot se od njega zahteva.


Disdiadokinezija

"... nezmožnost izvajanja hitrih izmeničnih mišičnih gibov. Ti so lahko hitri, sinhroni in lahko vključujejo pronacijo/supinacijo, hitro tapkanje s prsti, odpiranje in zapiranje pesti ter tapkanje z nogami"

"Disdiadokinezija je simptom kategorije nevroloških težav, znanih kot ataksija. Bolniki z ataksijo imajo lahko naslednje simptome:

"Težave z ravnotežjem in hojo, vključno s počasnostjo ali nerodnimi gibi.

"Slabo usklajevanje rok, dlani ali nog.

"nerazločen ali nerazumljiv govor in težave s požiranjem.

"Težave pri ustavljanju enega gibanja in začetku drugega v nasprotni smeri.

Tresenje, šibkost, spastičnost, nezmožnost premikanja oči ter izguba občutljivosti v rokah in nogah."

in .

"...testi vključujejo:

"Bolnik izmenično obrača obe roki z dlanjo navzgor na stabilno površino, kot je miza, čim hitreje z dlanjo navzdol.

bolnika prosimo, da pokaže gibanje obračanja kljuke na vratih ali vijačenja žarnice;

bolnik hitro tapka z nogo po tleh ali po preiskovalčevi roki

poziv bolniku, naj ponovi zloge, kot so "papa", "kaka", "lala".

Oseba z disdiadokinezijo ne bo mogla pravilno in usklajeno izvajati zgornjih testov. Njeni gibi so lahko upočasnjeni, nenavadni ali nerodni."
https://www.verywellhealth.com/dysdiadochokinesia-in-ms-2440863 [2337]


Cerebelarni sindrom

Ataksična dizartrija je posledica neusklajenosti, ki jo povzroča poškodba možganovine. Značilnosti so nepravilne artikulacijske napake, enako in pretirano poudarjanje zlogov ter neustrezno spreminjanje višine in glasnosti.

"Očesna nestabilnost, nistagmus, sakadične motnje, motnje gladkega zasledovanja, motnje vestibulo-okularnega refleksa (VOR) in nepravilna nastavitev oči so bistvo okulomotoričnih cerebelarnih primanjkljajev. Ataksična dizartrija kot motorična govorna motnja močno kaže na cerebelarno patologijo. Kar zadeva motorični nadzor nad okončinami, se pri cerebelarnih motnjah v različni meri pojavljajo hipotonija [zmanjšan mišični tonus], a- ali diadokinezija, dismetrija, primanjkljaji pri prijemanju in različni pojavi tremorja. Obstajajo jasni dokazi, da možganček sodeluje pri zaznavanju sile in proprioceptivnem zaznavanju med aktivnimi gibi. Pri cerebelarnih motnjah je hoja vratolomna s široko bazo, tandemska hoja [test hoje od pete do prstov] pa je zelo pogosto motena. Kar zadeva kognitivne in afektivne operacije, so motnje prisotne pri izvršilnih funkcijah, vizualno-prostorskem procesiranju, jezikovnih funkcijah in afektivni regulaciji (Schmahmannov sindrom). Nemotorični jezikovni primanjkljaji, vključno z motnjami artikulacijskega in grafomotoričnega načrtovanja, jezikovne dinamike, besedne tekočnosti, fonološkega in semantičnega priklica besed, ekspresivne in receptivne sintakse ter različnih vidikov branja in pisanja, so lahko moteni po cerebelarni poškodbi."
https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5565264&blobtype=pdf [2338]


Opsoklonus

"Opsoklonus je okulomotorična diskinezija, za katero so značilni hitri, ponavljajoči se konjugirani gibi oči, ki so nehoteni, aritmični, kaotični in večsmerni (horizontalne, vertikalne in torzijske komponente) brez intersakadnih intervalov."

in .

"Najbolj izrazita je, ko je bolnik buden in poskuša fiksacijo. Vztraja pa tudi med konvergiranjem in pri zaprtih vekah, v temi in med spanjem."[2][3] Vizualna zamegljenost in oscilopija sta pogosti pritožbi pri bolnikih z opsoklonusom zaradi velike amplitude in visoke frekvence oscilacij.

Opsoklonus se razlikuje od opsohorije, ki vključuje diskonjugirane gibe oči, in očesnega trepetanja, ki je prav tako očesna diskinezija, omejena na horizontalno ravnino gibanja oči. Opsoklonus se razlikuje od nistagma, saj je faza, ki povzroči premik očesa stran od tarče, vedno sakada. Kadar se opsoklonus kaže z mioklonusom in/ali ataksijo, encefalopatijo, generaliziranim tremorjem ali motnjami kognicije in vedenjskimi spremembami, ga uvrščamo med sindrom opsoklonusa in mioklonusa (OMS), ki se pogosto imenuje 'sindrom plešočih oči in plešočih nog'."

Priporočeni postopki pri ocenjevanju:

"Pri vsakem bolniku z opsoklonusom ali OMS je potrebna celovita diagnostična preiskava, vključno z nevrološkim slikanjem celotne nevroske osi s kontrastom in lumbalno punkcijo. Po izključitvi bolezni osrednjega živčnega sistema (OŽS) je treba začeti s preiskavami za prikrito maligno bolezen ter toksične, presnovne in parainfekcijske vzroke. Pri vseh bolnikih je treba opraviti računalniško tomografijo (CT) prsnega koša, trebuha in medenice, če se ne pokaže, pa je najbolje opraviti pozitronsko emisijsko tomografijo (PET), zlasti pri bolnikih, starejših od 40 let.Čeprav ima testiranje avtoprotiteles omejeno diagnostično vrednost, ga še vedno priporočamo, saj bi njihova prisotnost potrdila diagnozo paraneoplastičnega opsoklonusa ali OMS. Pri ženskah je treba opraviti mamografijo in temeljit ginekološki pregled ter preveriti titre protiteles anti-Ri."

Toksikološki vzroki so

zastrupitev z alkoholom
Amfetamini
Barbiturati
Benzodiazepini
Ketamin
Litij
fenciklidin
Fenitoin
salicilati
Toksičnost SSRI
Pomanjkanje tiamina
https://www.ncbi.nlm.nih.gov/books/NBK564353 [2606]



Dismetrija

Dismetrija je nezmožnost nadzora razdalje, hitrosti in obsega gibanja, ki so potrebni za izvajanje gladko usklajenih gibov.


Testi dismetrije:

Test s prstom proti nosu. Pri tem testu morate iztegniti roko in se s prsti dotakniti nosu.

Test od pete do šanka. Pri tem testu se morate uleči in se s peto dotakniti vrha nasprotne goleni.

Slikovni in genetski testi.


Diplopija

Diplopija je medicinski izraz za dvojni vid ali dvojno gledanje. Testiranje:

Ali vidite dvojno sliko z obema odprtima očesoma ali z enim zaprtim?

Ali ob zaprtju enega očesa dvojna slika izgine?

Ali je dvojna slika, ki jo vidite, vodoravna ali navpična? To pomaga ugotoviti, katere očesne mišice so prizadete.


Wernickejeva encefalopatija

Akutna in reverzibilna encefalopatija zaradi pomanjkanja tiamina (vitamina B1) - posledica slabe absorpcije, vnosa ali izgube hranil - najpogosteje alkoholizem


Značilnosti:

zmedenost - dezorientiranost, brezbrižnost, nepozornost.

Ataksija - drža in hoja, polinevropatija, prizadetost možganov, široka hoja, počasni, kratki koraki.

Okulomotorična disfunkcija.


Patofiziologija pomanjkanja B1:

Atrofija mamilarnih telesc [jeder možganskega debla na posteroinferiorni strani hipotalamusa] določa obseg WE.

Povezano s paraventrikularnimi hemoragijami.

Tiamin se absorbira v dvanajstniku, shranjuje se v jetrih in se giblje po telesu, kjer ga aktivira tiamin pirofosfat sinteza, ki na tiamin doda pirofosfatno skupino.

Tiamin ima velik vpliv na presnovo glukoze prek piruvat dehidrogenaze, alfa-ketaguterat dehidrogenaze in transketolaze.

Tiamin presnavlja lipide in ogljikove hidrate ter vzdržuje normalno raven aminokislin in nevrotransmiterjev.

Zaradi motene presnove glukoze se zmanjša celična energija.

Možgani so občutljivi na moteno glukozo, pomanjkanje povzroči hemoragijo in nekrozo mamilarnih telesc.

Težave z gibanjem in ravnotežjem (možgani).

Srčni utrip in dihanje (medula).



Težave z možganskim deblom/kranialnim živcem.

Trije glavni mehanizmi delovanja WKS:

Vplivi na pretvorbo tiamaina v tiamin pirofosfat z blokado encima sintetaze.

Alkohol neposredno preprečuje absorpcijo tiamina z blokiranjem izražanja gena tiaminskega transporterja 1 v dvanajstniku.

Blokada skladiščenja tiamina v jetrih.

Od WE do KS je kontinuum.

Klasična triada WE: oftalmoplegija, ataksija in zmedenost.

KS triada: amnezija, konfabulacija, osebnostne spremembe.

Dokončna diagnoza je zapletena, saj klinična triada pri WE ni prisotna pri do 90 % bolnikov.

Značilen znak Wernickejeve encefalopatije so okularne nepravilnosti, zlasti nistagmus [oči izvajajo ponavljajoče se, nenadzorovane gibe, ki pogosto povzročijo zmanjšan vid in zaznavanje globine ter vplivajo na ravnotežje in koordinacijo. Ti nehoteni gibi oči se lahko pojavljajo od strani do strani, navzgor in navzdol ali v krožnem vzorcu].

Drugi okulomotorični simptomi vključujejo prizadetost lobanjskih živcev okulomotoričnega, abdukcijskega in vestibularnega jedra, ki povzroča konjugirano paralizo pogleda [nezmožnost premikanja obeh oči skupaj v eni vodoravni (najpogosteje) ali navpični smeri].

počasnost zenice [Kadar je zenica prizadeta pri okulomotorni paralizi, je fiksirana in razširjena (ali minimalno reaktivna).

Delno razširjena zenica, ki se počasi odziva na svetlobo, kaže na relativno prizadetost zenice pri paralizi CN III].

Pogosta sta tudi ptoza [povešena zgornja veka] in anizokorija [neenakomerna velikost zenice].
https://www.ncbi.nlm.nih.gov/books/NBK470344/ [2341]

Diagnosticiranje - klasične predstavitve: brezdomci, zloraba alkohola, podhranjenost.

Laboratorijske preiskave: popolna krvna slika, test delovanja jeter, tiamin.

Slikanje: MRI: degeneracija mamilarnih telesc, asimetrična mamilarna telesca, nazadnje z atrofijo.

Brez tiamin pirofosfata se glukoza pretvori v mlečno kislino in nastane presnovna acidoza.

Posledice: Korsakov sindrom - ireverzibilna encefalopatija

Potencialni vzroki:

anoreksija
hiperemezo
postenje ali stradanje
operacija prebavil
maligno obolenje
presaditev
hemodializa ali peritonealna dializa
AIDS
alkoholizem

Vloga tiamina: potreben za encime: transketolazo, piruvat dehidrogenazo, a-ketoglutarat dehidrogenazo


Simptomi:

bolnik si izmišljuje spomine, da bi dopolnil zgodbo, vendar ni nujno, da laže.

"Tisti, ki konfabulirajo, morda preprosto poskušajo ublažiti stres zaradi trenutne situacije tako, da pomirijo izpraševalca, namesto da bi jo namerno poskušali prevrniti ali poslabšati. Ne glede na to, ali gre za izkrivljene spomine na dejanski dogodek ali za ustvarjanje namišljenega dogodka, konfabulacije ne smemo zamenjevati z namernim laganjem ali malingeringom zaradi osebne koristi."
https://www.oatext.com/confabulation-a-beginners-guide-for-legal-professionals.php [2344]


Druge značilnosti KS:

izrazita in selektivna anterogradna in retrogradna amnezija

Anterogradna amnezija se nanaša na dogodke po poškodbi.

Retrogradna amnezija se nanaša na dogodke pred poškodbo.

Apatija.

Normalen in nepoškodovan senzorij - vid, vonj, sluh in dotik so normalni.

Pozornost in socialno vedenje sta razmeroma dobro ohranjena.

Demenca

Ne zavedajo se svoje bolezni - nimajo vpogleda - to se ujema s konfabulacijo in apatijo - ni jim mar, zato ne vedo, da imajo težave.


Posledice:

Izboljšanje je redko.