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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)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Neoplasm should be considered in any patient presenting with NLD obstruction.In patients with an atypical presentation, including younger age and male gender, further workup is appropriate. Bloody punctal discharge or lacrimal sac distension above the medial canthal tendon is also highly suggestive of neoplasm.
Granulomatous disease, including sarcoidosis, granulomatosis with polyangiitis, and midline granuloma, may also lead to NLD obstruction.
The resulting syndrome depends on the structure affected.
Examples of vascular stenotic lesions include:
- Intermittent claudication (peripheral artery stenosis)
- Angina (coronary artery stenosis)
- Carotid artery stenosis which predispose to (strokes and transient ischaemic episodes)
- Renal artery stenosis
The types of stenoses in heart valves are:
- Pulmonary valve stenosis, which is the thickening of the pulmonary valve, therefore causing narrowing
- Mitral valve stenosis, which is the thickening of the mitral valve (of the left heart), therefore causing narrowing
- Tricuspid valve stenosis, which is the thickening of the tricuspid valve (of the right heart), therefore causing narrowing
- Aortic valve stenosis, which is the thickening of the aortic valve, therefore causing narrowing
Stenoses/strictures of other bodily structures/organs include:
- Pyloric stenosis (gastric outflow obstruction)
- Lumbar, cervical or thoracic spinal stenosis
- Subglottic stenosis (SGS)
- Tracheal stenosis
- Obstructive jaundice (biliary tract stenosis)
- Bowel obstruction
- Phimosis
- Non-communicating hydrocephalus
- Stenosing tenosynovitis
- Atherosclerosis
- Esophageal stricture
- Achalasia
- Prinzmetal angina
- Vaginal stenosis
Stenoses of the vascular type are often associated with unusual blood sounds resulting from turbulent flow over the narrowed blood vessel. This sound can be made audible by a stethoscope, but diagnosis is generally made or confirmed with some form of medical imaging.
An imperforate lacrimal punctum is a congenital disorder of dogs involving the lack of an opening to the nasolacrimal duct (tear duct) in the conjunctiva. Dogs normally have two lacrimal puncta, the superior and inferior. This condition can affect either or both. Symptoms include excessive tearing and tear staining of the hair around the eye. Affected breeds include the American Cocker Spaniel, Bedlington Terrier, Golden Retriever, Poodle, and Samoyed. Imperforate lacrimal puncta can be corrected by surgical opening of the punctum.
Subglottic stenosis is a congenital or acquired narrowing of the subglottic airway. Although it is relatively rare, it is the third most common congenital airway problem (after laryngomalacia and vocal cord paralysis). Subglottic stenosis can present as a life-threatening airway emergency. It is imperative that the otolaryngologist be an expert at dealing with the diagnosis and management of this disorder. Subglottic stenosis can affect both children and adults.
Subglottic stenosis can be of three forms, namely congenital subglottic stenosis, idiopathic subglottic stenosis (ISS) and acquired subglottic stenosis. As the name suggests, congenital subglottic stenosis is a birth defect. Idiopathic subglottic stenosis is a narrowing of the airway due to an unknown cause. Acquired subglottic stenosis generally follows as an after-effect of airway intubation, and in extremely rare cases as a result of gastroesophageal reflux disease (GERD).
Subglottic stenosis is graded according to the Cotton-Meyer classification system from one to four based on the severity of the blockage.
Grade 1 – <50% obstruction
Grade 2 – 51–70% obstruction
Grade 3 – 71–99% obstruction
Grade 4 – no detectable lumen
Treatments to alleviate the symptoms of subglottic stenosis includes a daily dose of steroids such as prednisone, which reduces the inflammation of the area for better breathing. Other medications such as Methotrexate is also being tested by patients but results are pending.
Laryngotracheal stenosis refers to abnormal narrowing of the central air passageways. This can occur at the level of the larynx, trachea, carina or main bronchi.
In a small number of patients narrowing may be present in more than one anatomical location.
Babies with this condition usually present any time in the first weeks to months of life with progressively worsening vomiting. The vomiting is often described as non-bile stained ("non bilious") and "projectile vomiting", because it is more forceful than the usual spittiness (gastroesophageal reflux) seen at this age. Some infants present with poor feeding and weight loss but others demonstrate normal weight gain. Dehydration may occur which causes a baby to cry without having tears and to produce less wet or dirty diapers due to not urinating for hours or for a few days. Symptoms usually begin between 3 to 12 weeks of age. Findings include epigastric fullness with visible peristalsis in the upper abdomen from the person's left to right. Constant hunger, belching, and colic are other possible signs that the baby is unable to eat properly.
Many of the signs and symptoms of aqueductal stenosis are similar to those of hydrocephalus. These typical symptoms include: headache, nausea and vomiting, cognitive difficulty, sleepiness, seizures, balance and gait disturbances, visual abnormalities, and incontinence.
- Headache may be a result of the raised intracranial pressure from the disrupted flow of CSF, and sometimes this symptom may come on suddenly as a “thunderclap headache”.
- In children, cognitive difficulty and developmental delay have been seen in a range of severities. Mild developmental delay is characterized by motor and neurological development that is no greater than 2 standard deviations below average for the age of the child, and moderate delay is characterized by greater than 2 standard deviations below. A child with severe delay may be unable to use spoken language or control movement or interact with others, and can behave abusively towards themselves.
- A patient's level of consciousness may also deteriorate with time, and this can lead to coma or death.
- The visual abnormalities previously mentioned include “upward gaze palsy”, where a person has difficulty looking up.
- Tremors have also been reported as a symptom, but are not as common as these previously mentioned.
Signs of aqueductal stenosis other than those mentioned in “Causes of stenosis” include detection of an enlarged lateral and third ventricle in conjunction with a smaller fourth ventricle. This variation in ventricle size is indicative of a blockage in the aqueduct because it lies between the third and fourth ventricles. Another sign of stenosis is deformation of the midbrain, which can be severe. This is caused by the pressure gradient formed from a blockage in the aqueduct.
A right ventricular outflow tract obstruction (RVOTO) may be due to a defect in the pulmonic valve, the supravalvar region, the infundibulum, or the pulmonary artery.
- Pulmonary atresia
- Pulmonary valve stenosis
- Hypoplastic right heart syndrome
- Tetralogy of Fallot
The most common symptom of laryngotracheal stenosis is gradually-worsening breathlessness (dyspnea) particularly when undertaking physical activities (exertional dyspnea). The patient may also experience added respiratory sounds which in the more severe cases can be identified as stridor but in many cases can be readily mistaken for wheeze. This creates a diagnostic pitfall in which many patients with laryngotracheal stenosis are incorrectly diagnosed as having asthma and are treated for presumed lower airway disease. This increases the likelihood of the patient eventually requiring major open surgery in benign disease and can lead to tracheal cancer presenting too late for curative surgery to be performed.
Among some of the symptoms consistent with pulmonary valve stenosis are the following:
- Heart murmur
- Cyanosis
- Dyspnea
- Dizziness
- Upper thorax pain
- Developmental disorders
Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.
Urethral meatal stenosis or urethral stricture is a narrowing (stenosis) of the opening of the urethra at the external meatus , thus constricting the opening through which urine leaves the body from the urinary bladder.
A left ventricular outflow tract obstruction (LVOTO) may be due to a defect in the aortic valve, or a defect located at the subvalvar or supravalvar level.
- Aortic valve stenosis
- Supravalvar aortic stenosis
- Coarctation of the aorta
- Hypoplastic left heart syndrome
Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal fluid (CSF) in the ventricular system. Blockage of the aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus.
The aqueduct of Sylvius is the channel which connects the third ventricle to the fourth ventricle and is the narrowest part of the CSF pathway with a mean cross-sectional area of 0.5 mm in children and 0.8 mm in adults. Because of its small size, the aqueduct is the most likely place for a blockage of CSF in the ventricular system. This blockage causes ventricle volume to increase because the CSF cannot flow out of the ventricles and cannot be effectively absorbed by the surrounding tissue of the ventricles. Increased volume of the ventricles will result in higher pressure within the ventricles, and cause higher pressure in the cortex from it being pushed into the skull. A person may have aqueductal stenosis for years without any symptoms, and a head trauma, hemorrhage, or infection could suddenly invoke those symptoms and worsen the blockage.
About 60 percent of initial attacks of dacryocystitis will recur. Individuals with a poorly functioning immune system (immunocompromised) may develop orbital cellulitis, which may lead to optic neuritis, proptosis, motility abnormalities, or blindness.
Stenosis of the pulmonary artery is a condition where the pulmonary artery is subject to an abnormal constriction (or stenosis). Peripheral pulmonary artery stenosis may occur as an isolated event or in association with Alagille syndrome, Berardinelli-Seip congenital lipodystrophy type 1, Costello syndrome, Keutel syndrome, nasodigitoacoustic syndrome (Keipert syndrome), Noonan syndrome or Williams syndrome.
It should not be confused with a pulmonary valve stenosis, which is in the heart, but can have similar hemodynamic effects. Both stenosis of the pulmonary artery and pulmonary valve stenosis are causes of pulmonic stenosis.
In some cases it is treated with surgery.
In regards to the cause of pulmonary valve stenosis a very high percentage are congenital, the right ventricular flow is hindered (or obstructed by this). The cause in turn is divided into: valvular, external and intrinsic (when it is acquired).
A mild diastolic murmur can be heard during auscultation caused by the blood flow through the stenotic valve. It is best heard over the left sternal border with rumbling character and tricuspid opening snap with wide-splitting S1. It may increase in intensity with inspiration (Carvallo's sign). The diagnosis will typically be confirmed by an echocardiograph, which will also allow the physician to assess its severity.
Hidrocystoma (also known as cystadenoma, a Moll's gland cyst, and a sudoriferous cyst) is an adenoma of the sweat glands.
Hidrocystomas are cysts of sweat ducts, usually on the eyelids. They are not tumours (a similar-sounding lesion called hidroadenoma is a benign tumour).
There are three types of "sweat" glands: True sweat glands or eccrine glands;
sebaceous glands, which have an oily secretion around hair follicles; and apocrine glands which have more oily product than eccrine glands and are found on the face, armpit, and groin.
Hidrocystomas usually arise from apocrine glands. They are also called Cysts of Moll or sudoriferous cysts. There may be a type of hidroadenoma that arises from eccrine glands, but these are uncommon.
Other related conditions on the eyelids include chalazion ( a granulomatous reaction to sebaceous glands on the eyelid), lacrimal duct cysts (cysts related to tear ducts) and nasolacrimal duct cysts (the nasolacrimal duct drains tears into the nose via a punctum on the lower eyelid).
Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis
The protection provided by the foreskin for the glans penis and meatus has been recognized since 1915. In the absence of the foreskin the meatus is exposed to mechanical and chemical irritation from ammoniacal diaper (nappie) that produces blister formation and ulceration of the urethral opening, which eventually gives rise to meatal stenosis (a narrowing of the opening). Meatal stenosis may also be caused by ischemia resulting from damage to the frenular artery during circumcision.
Symptoms may occur at any time, but most often they accompany a change of body position. Pedunculated myxomas can have a "wrecking ball effect", as they lead to stasis and may eventually embolize themselves. Symptoms may include:
- Shortness of breath with activity
- Platypnea – Difficulty breathing in the upright position with relief in the supine position
- Paroxysmal nocturnal dyspnea – Breathing difficulty when asleep
- Dizziness
- Fainting
- Palpitations – Sensation of feeling your heart beat
- Chest pain or tightness
- Sudden Death (In which case the disease is an autopsy finding)
The symptoms and signs of left atrial myxomas often mimic mitral stenosis.
General symptoms may also be present, such as:
- Cough
- Pulmonary edema, as blood backs up into the pulmonary artery, after increased pressures in the left atrium and atrial dilation
- Hemoptysis
- Fever
- Cachexia – Involuntary weight loss
- General discomfort (malaise)
- Joint pain
- Blue discoloration of the skin, especially the fingers (Raynaud's phenomenon)
- Fingers that change color upon pressure or with cold or stress
- Clubbing – Curvature of nails accompanied with soft tissue enlargement of the fingers
- Swelling – any part of the body
- Presystolic heart murmur
These general symptoms may also mimic those of infective endocarditis.
The treatment of choice is percutaneous balloon valvuloplasty and is done when a resting peak gradient is seen to be >60mm Hg or a mean >40mm Hg is observed.