Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
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.
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.
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.
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
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).
Salivary gland aplasia (also termed salivary gland agenesis) is the congenital absence of salivary glands. Usually the term relates to the absence of some or all of the major salivary glands.
It is a rare condition, and most known cases have been in association with syndromes of the ectodermal tissues, particularly the lacrimal apparatus. Example syndromes which have been reported with salivary gland aplasia include hereditary ectodermal dysplasia, mandibulofacial dysostosis and hemifacial microsomia.
The main significance of the condition is a lack of saliva, causing xerostomia (dry mouth), with accompanying susceptibility to dental caries (tooth decay), infections of the mouth, and upper respiratory tract infections (e.g., candidiasis, ascending sialadenitis, laryngitis and pharyngitis). Patients with salivary gland aplasia typically require regular application of topical fluoride to prevent tooth decay.
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.
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.
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.
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.
Congenital disorders of the salivary glands are rare, but may include:
- Aplasia
- Atresia
- Ectopic salivary gland tissue
- Stafne defect - an uncommon condition which some consider to be an anatomic variant rather than a true disease. It is thought to be created by an ectopic portion of salivary gland tissue which causes the bone of the mandible to remodel around the tissue, creating an apparent cyst like radiolucent area on radiographs. Classically, this lesion is discovered as a chance finding, since it causes no symptoms. It appears below the inferior alveolar nerve canal in the posterior region of the mandible.
In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.
Proboscis formation are classified in four general types: holoprosencephalic proboscis, lateral nasal proboscis, supernumerary proboscis, and disruptive proboscis.
- Holoprosencephalic proboscis is found in holoprosencephaly. In cyclopia or ethmocephaly, proboscis is an abnormally formed nose. In cyclopia, a single median eye is associated with arrhinia (absence of the nose) and usually with proboscis formation above the eye. In ethmocephaly, two separate hypoteloric eyes are associated with arrhinia and supraocular proboscis formation. In cebocephaly, no proboscis formation occurs, but a single-nostril nose is present.
- Lateral nasal proboscis (proboscis lateralis) is a tubular proboscis-like structure and represents incomplete formation of one side of the nose; it is found instead of a nostril. The olfactory bulb is usually rudimentary on the involved side. The lacrimal duct (tear duct), nasal bone, nasal cavity, vomer, maxillary sinus, cribriform plate, and ethmoid cells are often missing on the involved side. Ocular hypertelorism may be present. The proboscis lateralis is a rare nasal anomaly.
- Supernumerary proboscis (Accessory proboscis) is found when both nostrils are formed and a proboscis occurs additionally. Accessory proboscis arise from a supernumerary olfactory placode.
- Disruptive proboscis occur if an early embryonic hamartoneoplastic lesion arises in the primitive prosencephalon.
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.
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.
Benign lymphoepithelial lesion is a type of benign enlargement of the parotid and/or lacrimal glands. This pathologic state is sometimes, but not always, associated with Sjögren's syndrome.
In 80% of cases, the parotid gland is affected. Lacrimal glands are also affected.
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.
Symptoms depend on whether the cervical canal is partially or completely obstructed and on the patient's menopausal status. Pre-menopausal patients may have a build up of blood inside the uterus which may cause infection, sporadic bleeding, or pelvic pain. Patients also have an increased risk of infertility and endometriosis.
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.
A salivary diverticulum (plural "diverticuli") is a small pouch or out-pocketing of the duct system of a major salivary gland. Such diverticuli typically cause pooling of saliva and recurrent sialadenitis, especially parotitis. A diverticulum may also cause a sialolith to form.
The condition can be diagnosed by sialography. Affected individuals may "milk" the salivary gland to encourage flow of saliva through the duct.
Cervical stenosis means that the opening in the cervix (the endocervical canal) is more narrow than is typical. In some cases, the endocervical canal may be completely closed. A stenosis is any passage in the body that is more narrow than it should typically be.
Many common effects sharing similarity with chondrodysplasia punctata stem from cartilaginous origin. Radiography reveals extensive diffuse cartilaginous calcification. Pulmonary angiography and soft tissue radiography often demonstrate significant cartilaginous ossification in the trachea and larynx, with perichondral and endochondral centers significantly ossified in transformed cartilage. Abnormal diffuse cartilaginous ossification is typically most pronounced in the auricles and cartilage of the trachea and larynx, while peripheral pulmonary stenosis is frequently common in KS. Interestingly, in consanguineous parents of children with KS, one is often phenotypically normal, while the other is positive for pulmonary stenosis. Perhaps emanating from diffuse laryngotracheal calcification, patients often present with recurrent respiratory infection, otitis media, and sinusitis.
The clinical presentation is variable but includes
- developmental and growth delay
- athletic muscular built
- skeletal anomalies
- joint stiffness
- characteristic facial appearance
- deafness
- variable cognitive deficits
- tracheal stenosis
- aortic stenosis
- pyloric stenosis
The facial abnormalities include:
- blepharophimosis (an abnormally narrow gap between the upper and lower eyelids)
- maxillary hypoplasia (underdevelopment of the upper jaw)
- prognathism (prominent lower jaw)
The skeletal abnormalities include:
- short stature
- square body shape
- broad ribs
- iliac hypoplasia
- brachydactyly
- flattened vertebrae
- thickened calvaria
Congenital heart disease and undescended testes have also been reported in association with this syndrome.
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.