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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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Globus pharyngis (also known as globus sensation, globus or, somewhat outdatedly, globus hystericus, commonly referred to as having a "lump in one's throat"), is the persistent sensation of having phlegm, a pill or some other sort of obstruction in the throat when there is none. Swallowing can be performed normally, so it is not a true case of dysphagia, but it can become quite irritating. One may also feel mild chest pain or even severe pain with a clicking sensation when swallowing.
The "lump in the throat" sensation that characterizes globus pharyngis is often caused by inflammation of one or more parts of the throat, such as the larynx or hypopharynx, due to cricopharyngeal spasm, gastroesophageal reflux (GERD), laryngopharyngeal reflux or esophageal versatility.
In some cases the cause is unknown and symptoms may be attributed to a cause "i.e." a somatoform or anxiety disorder. It has been recognised as a symptom of depression, which responds to anti-depressive treatment.
Differential diagnosis must be made from Eagle syndrome which uses the patient's description of "something caught in my throat" as a diagnostic tool. Eagle syndrome is an elongation of the styloid process causing irritation to nerves and muscles in the region resulting in a number of unusual symptoms.
The results of recent studies have strongly suggested that GERD is a major cause of globus, though this remains under considerable debate.
A less common cause, distinguished by a "lump in the throat" accompanied with clicking sensation and considerable pain when swallowing, may be due to thyroid-cartilage rubbing against anomalous asymmetrical laryngeal anatomy "e.g." the superior cornu abrading against the thyroid lamina, surgically trimming the offending thyroid-cartilage provides immediate relief in all cases. However this cause is frequently misdiagnosed, despite requiring a simple clinical examination involving careful palpation of the neck side to side which elicits the same click sensation (laryngeal crepitus) and pain as when swallowing, most cases are due to prior trauma to the neck. High resolution computed tomographic (CT) or MRI scan of the larynx is usually required to fully understand the anomalous laryngeal anatomy. Anterior displacement of the thyroid ala on the affected side while swallowing can help resolve symptoms.
Causes include stress and anxiety. Other causes are not yet clear. In some cases, eating certain foods may bring on acute spasms, in susceptible individuals. Peanuts, pumpkin seeds and other nuts may trigger these spasms.
There are two sphincters in the oesophagus. They are normally contracted and they relax when one swallows so that food can pass through them going to the stomach. They then squeeze closed again to prevent regurgitation of the stomach contents. If this normal contraction becomes a spasm, these symptoms begin.
Extraesophageal symptoms result from exposure of the upper aerodigestive tract to gastric contents. This causes a variety of symptoms, including hoarseness, postnasal drip, sore throat, difficulty swallowing, indigestion, chronic cough, wheezing, globus pharyngeus, and chronic throat-clearing. Some people with LPR have heartburn, while others have little to no heartburn as refluxed stomach contents do not remain in the esophagus long enough to irritate the surrounding tissue. Individuals with more severe forms of LPR may experience abrasion of tooth enamel due to intermittent presence of gastric contents in the oral cavity.
Additionally, LPR can cause inflammation in the vocal tract which results in the symptom of dysphonia or hoarseness. Hoarseness is considered to be one of the primary symptoms of LPR and is associated with complaints such as strain, vocal fatigue, muskuloskeletal tension, and hard glottal attacks, all of which can reduce a person's ability to communicate effectively. Moreover, LPR patients may try to compensate for their hoarseness by increasing muscular tension in their vocal tract. This hyper-functional technique adopted in response to the inflammation caused by LPR can lead to a condition called muscle tension dysphonia and may persist even after the hoarseness and inflammation has disappeared. A speech-language pathologist will often need to be involved to help resolve this maladaptive, compensatory pattern through the implementation of voice therapy.
LPR presents as a chronic and intermittent disease in children. LPR in children and infants tends to manifest with a unique set of symptoms. Symptoms seen in children with LPR include a cough, hoarseness, stridor, sore throat, asthma, vomiting, globus sensation, wheezing, aspiration and recurrent pneumonia. Common symptoms of LPR in infants include wheezing, stridor, persistent or recurrent cough, apnea, feeding difficulties, aspiration, regurgitation, and failure to thrive. Moreover, LPR in children is commonly concomitant with laryngeal disorders such as laryngomalacia, subglottic stenosis, and laryngeal papillomatosis.
Esophageal spasm is rare. Often, symptoms that may suggest esophageal spasm are the result of another condition such as gastroesophageal reflux disease (GERD) or achalasia. The symptoms can also include dysphagia, regurgitation, noncardiac chest pain, heartburn, globus pharyngis (which is a feeling that something is stuck in the throat) or a dry cough.
The main symptom of benign fasciculation syndrome is focal or widespread involuntary muscle activity (twitching), which can occur at random or specific times (or places). Presenting symptoms of benign fasciculation syndrome may include:
- Fasciculations (primary symptom)
- Blepharospasms (eye spasms)
- Generalized fatigue
- Muscle pain
- Anxiety (which can also be a cause)
- Exercise intolerance
- Globus sensation
- Paraesthesias
- Muscle cramping or spasms
Other symptoms include:
- Hyperreflexia
- Muscle stiffness
- Tremors
- Itching
- Myoclonic jerks
BFS symptoms are typically present when the muscle is at rest and are not accompanied by severe muscle weakness. In some BFS cases, fasciculations can jump from one part of the body to another. For example, it could start in a leg muscle, then in a few seconds jump to the forehead, then the abdomen, etc. Because fasciculations can occur on the head, this strongly suggests the brain as the generator due to its exclusive non-dependence on the spinal cord. (Together, the brain and spinal cord comprise the central nervous system.)
Anxiety is often caused as a result of BFS, and a lot of sufferers have hypochondria as BFS mimics symptoms of much more serious diseases such as amyotrophic lateral sclerosis (ALS).
Initial symptoms of spasmodic torticollis are usually mild. Some feel an invisible tremor of their head for a few months at onset. Then the head may turn, pull or tilt in jerky movements, or sustain a prolonged position involuntarily. Over time, the involuntary spasm of the neck muscles will increase in frequency and strength until it reaches a plateau. Symptoms can also worsen while the patient is walking or during periods of increased stress. Other symptoms include muscle hypertrophy, neck pain, dysarthria and tremor. Studies have shown that over 75% of patients report neck pain, and 33% to 40% experience tremor of the head.
Benign fasciculation syndrome (BFS) is a neurological disorder characterized by fasciculation (twitching) of various voluntary muscles in the body. The twitching can occur in any voluntary muscle group but is most common in the eyelids, arms, legs, and feet. Even the tongue may be affected. The twitching may be occasional or may go on nearly continuously. Usually intentional movement of the involved muscle causes the fasciculations to cease immediately, but they may return once the muscle is at rest again.
LPR is often regarded as a subtype of GERD that occurs when stomach contents flow upward through the esophagus and reach the level of the larynx and pharynx. However, LPR is associated with a distinct presentation of symptoms. LPR and GERD frequently differ in the relative prevalence of heartburn and throat clearing. While heartburn is present in over 80% of GERD cases, it occurs in only 20% of LPR cases. Throat clearing shows the opposite prevalence pattern, occurring in approximately 87% of LPR cases and in fewer than 5% of GERD cases. Unlike GERD, LPR also poses a risk for bronchitis or pneumonitis as reflux of stomach acid to the level of the larynx can result in aspiration. LPR is also commonly associated with erythema, or redness, as well as edema in the tissues of the larynx that are exposed to gastric contents. In contrast, most cases of GERD are nonerosive, with no apparent injury to the mucosal lining of the esophageal tissue exposed to the refluxed material.
Differences in the molecular structure of the epithelial tissue lining the laryngopharyngeal region may be partly responsible for the different symptomatic manifestations of LPR in comparison to GERD. In contrast to the resistant stratified squamous epithelium lining the esophagus, the larynx is lined by ciliated respiratory epithelium, which is more fragile and susceptible to damage. While the epithelium lining the esophagus is capable of withstanding as many as 50 instances of exposure to gastric contents each day, which is the uppermost estimate considered to be within the range of normal physiologic functioning, injury to laryngeal epithelium can occur following exposure to only small amounts of acidic gastric contents.
Symptoms are very similar to those found in benign fasciculation syndrome and include:
- Fasciculations (Primary Symptom)
- Muscle cramping (Primary Symptom)
- Muscle pain
- Muscle Stiffness
- Generalized fatigue
- Anxiety
- Exercise intolerance
- Globus sensations
- Paraesthesias.
- Hyperreflexia
Esophageal spasm or oesophageal spasm is a disorder of esophageal motility. The esophagus is an organ in vertebrates which consists of a fibromuscular tube through which food passes, aided by peristalsis contractions, from the upper esophageal sphincter to the stomach through waves of coordinated muscle contraction, or peristalsis.
There are two types of esophageal spasm:
- Diffuse esophageal spasm (DES), where there is uncoordinated esophageal contractions where several sections of the esophagus can contract at once.
- Nutcracker esophagus (NE) also known as hypertensive peristalsis, where the contractions are coordinated but with an excessive amplitude.
Both conditions can be linked with Gastroesophageal reflux disease (GERD).
When the coordinated muscle contraction are irregular or uncoordinated, this condition may be called diffuse esophageal spasm. These spasms can prevent food from reaching the stomach where food gets stuck in the esophagus. At other times the coordinated muscle contraction is very powerful, which is called nutcracker esophagus. These contractions move food through the esophagus but can cause severe pain.
Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both agonist and antagonist muscles contract simultaneously during dystonic movement.
Causes of the disorder are predominantly idiopathic. A small number of patients develop the disorder as a result of another disorder or disease. Most patients first experience symptoms midlife. The most common treatment for spasmodic torticollis is the use of botulinum toxin type A.
Aside from a hoarse-sounding voice, changes to pitch and volume may occur with laryngitis. Speakers may experience a lower or higher pitch than normal, depending on whether their vocal folds are swollen or stiff. They may also have breathier voices, as more air flows through the space between the vocal folds (the glottis), quieter volume and a reduced range.
The procedure of diagnosis for Cramp Fasciculation Syndrome (CFS) is closely aligned with the diagnosis procedure for benign fasciculation syndrome (BFS). The differentiation between a diagnosis of BFS versus CFS is usually more severe and prominent pain, cramps and stiffness associated with CFS.
The primary symptom of laryngitis is a hoarse voice. Because laryngitis can have various causes, other signs and symptoms may vary. They can include
- Dry or sore throat
- Coughing (both a causal factor and a symptom of laryngitis)
- Frequent throat clearing
- Increased saliva production
- Dysphagia (difficulty swallowing)
- Sensation of swelling in the area of the larynx (discomfort in the front of the neck)
- Globus pharyngeus (feeling like there is a lump in the throat)
- Cold or flu-like symptoms (which, like a cough, may also be a causal factor for laryngitis)
- Swollen lymph nodes in the throat, chest, or face
- Fever
- General muscle pain (myalgia)
- Shortness of breath, predominantly in children
Functional gastrointestinal disorders are very common. Globally, irritable bowel syndrome and functional dyspepsia alone may affect 16–26% of the population.
"Ballism" was defined by Meyers in 1968 as "Repetitive, but constantly varying, large amplitude involuntary movements of the proximal parts of the limbs. This activity is almost ceaseless and movements are often complex and combined". Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal or distal muscles on one side of the body. Some cases even include the facial muscles. It is common for arms and legs to move together. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. Physicians can measure the severity of the disorder by having the patient perform a series of basic, predetermined tasks and counting the hemiballistic movements during a set time session. The physicians then rate the patient on a severity scale. This scale gives scientists and clinicians a way to compare patients and determine the range of the disorder.
The name "hemiballismus" literally means "half ballistic", referring to the violent, flailing movements observed on one side of the body.
While not often volunteered as a complaint, upon questioning, it has been found that pain is a common co-morbidity. Pains may include joint pain, muscle aches, headaches and stomachaches. Clinical experience has shown that after the OC and other psychiatric symptoms have improved, some children report pain for the first time. When widespread pain is present, patients often report other forms of sensory amplification and poor sleep. Physical exam may reveal areas of tenderness to palpation in the classic distribution for fibromyalgia. Patients who report both pain and stiffness upon awakening or after prolonged stationary positions should be assessed for arthritis. A small fraction of patients with PANS have been afflicted by an arthritis condition (inflammatory back pain, reactive arthritis, psoriatic arthritis, and juvenile idiopathic arthritis). Reactive arthritis (most commonly in the ankles, knees, and hips) has been reported before PANS onset. Involvement of the pediatrician, pediatric rheumatologist, pain specialist, occupational therapist, and physical therapist may help the course of the illness, alleviate pain and likely, improve emotional functioning.
The initial onset and subsequent exacerbations are usually incited by a variety of recognizable infections. Alternatively, these conditions may be associated with life stresses. In other cases, there is no clear inciting factor.
Terms such as "functional colonic disease" (or "functional bowel disorder") refer in medicine to a group of bowel disorders which are characterised by chronic abdominal complaints without a structural or biochemical cause that could explain symptoms. Other "functional" disorders relate to other aspects of the process of digestion.
The consensus review process of meetings and publications organised by the Rome Foundation, known as the Rome process, has helped to define the functional gastrointestinal disorders. Successively, the Rome I, Rome II, Rome III and Rome IV proposed consensual classification system and terminology, as recommended by the Rome Coordinating Committee. These now include classifications appropriate for adults, children and neonates / toddlers.
The current Rome IV classification, published in 2016, is as follows:
A. Esophageal Disorders
- A1. Functional chest pain
- A2. Functional heartburn
- A3. Reflux hypersensitivity
- A4. Globus
- A5. Functional dysphagia
B. Gastroduodenal Disorders
- B1. Functional dyspepsia
- B1a. Postprandial distress syndrome (PDS)
- B1b. Epigastric pain syndrome (EPS)
- B2. Belching disorders
- B2a. Excessive supragastric belching
- B2b. Excessive gastric belching
- B3. Nausea and vomiting disorders
- B3a. Chronic nausea vomiting syndrome (CNVS}
- B3b. Cyclic vomiting syndrome (CVS)
- B3c. Cannabinoid hyperemesis syndrome (CHS)
- B4. Rumination syndrome
C. Bowel Disorders
- C1. Irritable bowel syndrome (IBS)
- IBS with predominant constipation (IBS-C)
- IBS with predominant diarrhea (IBS-D)
- IBS with mixed bowel habits (IBS-M)
- IBS unclassified (IBS-U)
- C2. Functional constipation
- C3. Functional diarrhea
- C4. Functional abdominal bloating/distension
- C5. Unspecified functional bowel disorder
- C6. Opioid-induced constipation
D. Centrally Mediated Disorders of Gastrointestinal Pain
- D1. Centrally mediated abdominal pain syndrome (CAPS)
- D2. Narcotic bowel syndrome (NBS)/ Opioid-induced GI hyperalgesia
E. Gallbladder and Sphincter of Oddi disorders
- E1. Biliary pain
- E1a. Functional gallbladder disorder
- E1b. Functional biliary sphincter of Oddi disorder
- E2. Functional pancreatic sphincter of Oddi disorder
F. Anorectal Disorders
- F1. Fecal incontinence
- F2. Functional anorectal pain
- F2a. Levator ani syndrome
- F2b. Unspecified functional anorectal pain
- F2c. Proctalgia fugax
- F3. Functional defecation disorders
- F3a. Inadequate defecatory propulsion
- F3b. Dyssynergic defecation
G. Childhood Functional GI Disorders: Neonate/Toddler
- G1. Infant regurgitation
- G2. Rumination syndrome
- G3. Cyclic vomiting syndrome (CVS)
- G4. Infant colic
- G5. Functional diarrhea
- G6. Infant dyschezia
- G7. Functional constipation
H. Childhood Functional GI Disorders: Child/Adolescent
- H1. Functional nausea and vomiting disorders
- H1a. Cyclic vomiting syndrome (CVS)
- H1b. Functional nausea and functional vomiting
- H1b1. Functional nausea
- H1b2. Functional vomiting
- H1c. Rumination syndrome
- H1d. Aerophagia
- H2. Functional abdominal pain disorders
- H2a. Functional dyspepsia
- H2a1. Postprandial distress syndrome
- H2a2. Epigastric pain syndrome
- H2b. Irritable bowel syndrome (IBS)
- H2c. Abdominal migraine
- H2d. Functional abdominal pain ‒ NOS
- H3. Functional defecation disorders
- H3a. Functional constipation
- H3b. Nonretentive fecal incontinence
Ballismus or ballism (called hemiballismus or hemiballism in its unilateral form) is a very rare movement disorder. It is a type of chorea caused in most cases by a decrease in activity of the subthalamic nucleus of the basal ganglia, resulting in the appearance of flailing, ballistic, undesired movements of the limbs. It can also appear rarely due to certain metabolic abnormalities. It is a rare movement disorder, being 500 times rarer than Parkinson's disease. Hemiballismus can cause significant disability. Symptoms can decrease during sleep.
Esophageal diseases can derive from congenital conditions, or they can be acquired later in life.
Many people experience a burning sensation in their chest occasionally, caused by stomach acids refluxing into the esophagus, normally called heartburn. Extended exposure to heartburn may erode the lining of the esophagus, leading potentially to Barrett's esophagus which is associated with an increased risk of adenocarcinoma most commonly found in the distal one-third of the esophagus.
Some people also experience a sensation known as globus esophagus, where it feels as if a ball is lodged in the lower part of the esophagus.
The following are additional diseases and conditions that affect the esophagus:
- Achalasia
- Acute esophageal necrosis
- Barrett's esophagus
- Boerhaave syndrome
- Caustic injury to the esophagus
- Chagas disease
- Diffuse esophageal spasm
- Esophageal atresia and Tracheoesophageal fistula
- Esophageal cancer
- Esophageal dysphagia
- Esophageal varices
- Esophageal web
- Esophagitis
- GERD
- Hiatus hernia
- Jackhammer esophagus (hypercontractile peristalsis)
- Killian–Jamieson diverticulum
- Mallory-Weiss syndrome
- Neurogenic dysphagia
- Nutcracker esophagus
- Schatzki's ring
- Zenker's Diverticulum
Athetosis can vary from mild to severe motor dysfunction; it is generally characterized by unbalanced, involuntary movements of muscle and a difficulty maintaining a symmetrical posture. The associated motor dysfunction can be restricted to a part of body or present throughout the body, depending on the individual and the severity of the symptom. One of the pronounced signs can be observed in the extremities in particular, as the writhing, convoluted movement of the digits. Athetosis can appear as early as 18 months from birth with first signs including difficulty feeding, hypotonia, spasm, and involuntary writhing movements of the hands, feet, and face, which progressively worsen through adolescence and at times of emotional distress. Athetosis is caused by lesions in several brain areas such as the hippocampus and the motor thalamus, as well as the corpus striatum; therefore children during the developmental age could possibly suffer from cognitive deficits such as speech impairment, hearing loss, and failed or delayed acquirement of sitting balance.
The initial symptoms in two-thirds of cases are loss of balance, lunging forward when mobilizing, fast walking, bumping into objects or people, and falls.
Other common early symptoms are changes in personality, general slowing of movement, and visual symptoms.
Later symptoms and signs are dementia (typically including loss of inhibition and ability to organize information), slurring of speech, difficulty swallowing, and difficulty moving the eyes, particularly in the vertical direction. The latter accounts for some of the falls experienced by these patients as they are unable to look up or down.
Some of the other signs are poor eyelid function, contracture of the facial muscles, a backward tilt of the head with stiffening of the , sleep disruption, urinary incontinence and constipation.
The visual symptoms are of particular importance in the diagnosis of this disorder. Patients typically complain of difficulty reading due to the inability to look down well. Notably, the ophthalmoparesis experienced by these patients mainly concerns voluntary eye movement and the inability to make vertical saccades, which is often worse with downward saccades. Patients tend to have difficulty looking down (a downgaze ) followed by the addition of an upgaze palsy. This vertical gaze paresis will correct when the examiner passively rolls the patient's head up and down as part of a test for the oculocephalic reflex. Involuntary eye movement, as elicited by Bell's phenomenon, for instance, may be closer to normal. On close inspection, eye movements called "square-wave jerks" may be visible when the patient fixes at distance. These are fine movements, that can be mistaken for nystagmus, except that they are saccadic in nature, with no smooth phase. Difficulties with convergence (convergence insufficiency), where the eyes come closer together while focusing on something near, like the pages of a book, is typical. Because the eyes have trouble coming together to focus at short distances, the patient may complain of diplopia (double vision) when reading.
Cardinal manifestations:
- Supranuclear ophthalmoplegia
- Neck dystonia
- Parkinsonism
- Pseudobulbar palsy
- Behavioral and cognitive impairment
- Imbalance and walking difficulty
- Frequent falls