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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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Tight hymenal ring is a disorder of the hymen, characterized by a rigid hymen and tight introitus, whether acquired or congenital. It excludes an imperforate hymen.
The condition can be relieved by outpatient surgery or manual dilation.
Hand-foot-genital syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by de novo mutations is unknown because of the small number of individuals described. If a parent of the proband is affected, the risk to the siblings is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. Each child of an individual with HFGS has a 50% chance of inheriting the mutation. Prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified in an affected family member.
About 6 to 14 percent of patients who receive a routine barium swallow test of the esophagus are found to have a Schatzki ring.
The reported incidence of constriction ring syndrome varies from 1/1200 and 1/15000 live births. The prevalence is equally in male and female.
Fetomaternal factors like prematurity, maternal illnes, low birth weight and maternal drug exposure are predisposing factors for the constriction ring syndrome.
No positive relationship between CRS and genetic inheritance has been reported.
Diagnosis is based on physical examination including radiographs of the hands and feet and imaging studies of the kidneys, bladder, and female reproductive tract. HOXA13 is the only gene known to be associated with HFGS. Approximately 60% of mutations are polyalanine expansions. Molecular genetic testing is clinically available.
A number of medical reports of phimosis incidence have been published over the years. They vary widely because of the difficulties of distinguishing physiological phimosis (developmental nonretractility) from pathological phimosis, definitional differences, ascertainment problems, and the multiple additional influences on post-neonatal circumcision rates in cultures where most newborn males are circumcised. A commonly cited incidence statistic for pathological phimosis is 1% of uncircumcised males. When phimosis is simply equated with nonretractility of the foreskin after age 3 years, considerably higher incidence rates have been reported.
Others have described incidences in adolescents and adults as high as 50%, though it is likely that many cases of physiological phimosis or partial nonretractility were included.
The most acute complication is paraphimosis. In this condition, the glans is swollen and painful, and the foreskin is immobilized by the swelling in a partially retracted position. The proximal penis is flaccid. Some studies found phimosis to be a risk factor for urinary retention and carcinoma of the penis.
There are three different theories to the cause of the constriction ring syndrome.
The first is the intrinsic theory, which was proposed by Streeter in 1930, implicates an anomaly in germ plasm resulting in the defects. This theory is reinforced by the clinical presentation of the constriction rings with other internal visceral and systematic anomalies. Because of these other anomalies the names “Constriction Ring Syndrome”, “Constriction Band Syndrome” and “Streeter Bands” are given to this defect/disease.
The second theory postulates the involvement of an intrauterine disruption during pregnancy followed by a cascade of events involving amniotic rupture. When spontaneous rupture of the amnion occurs early in the second trimester, the separation of amnion from chorion produces many small, thin strands that can become entangled within digits and toes.
The names “Amniotic Band Syndrome”, “Amniotic Disruption Complex", "Amniochorionic Mesoblastic Fibrous Strings", are based on this theory.
The third theory postulates the involvement of intrauterine trauma. Intrauterine trauma could be something like amniocentesis, or something like an fetal surgery. An intrauterine trauma could result in hemorrhage leading to acrosyndactyly. One study also showed the presence of bands as confirmed by sonography after fetal surgery.
Because of these different theories, there are many names for this syndrome. For a long time people believed the second theory about the amniotic rupture and strands. In the research cases not every child had a real (amniotic) strand. It could be that there has to be another explanation for the development of these anomalies.
Rupture of the urethra is an uncommon result of penile injury, incorrect catheter insertion, straddle injury, or pelvic girdle fracture. The urethra, the muscular tube that allows for urination, may be damaged by trauma. When urethral rupture occurs, urine may extravasate (escape) into the surrounding tissues. The membranous urethra is most likely to be injured in pelvic fractures, allowing urine and blood to enter the deep perineal space and subperitoneal spaces via the genital hiatus. The spongy urethra is most likely to be injured with a catheter or in a straddle injury, allowing urine and blood to escape into the scrotum, the penis, and the superficial peritoneal space. Urethral rupture may be diagnosed with a cystourethrogram. Due to the tight adherence of the fascia lata, urine from a urethral rupture cannot spread into the thighs.
Frenulum breve may be complicated by tearing of the frenulum during sexual or other activity and is a cause of dyspareunia. It may lead to erroneous labelling of the sufferer as having psychosexual problems. The torn frenulum may result in healing with scar tissue that is less flexible after the incident causing further difficulties. However, this tearing can also solve the problem, healing such that the frenulum is longer and therefore no longer problematic. The diagnosis of frenulum breve is almost always confused with that of phimosis and a generally tight foreskin, since the symptom is difficulty retracting the foreskin. Most men with phimosis also have frenulum breve to a certain extent.
It is typically associated with abnormal embryological development, however adult cases can develop. It can result from growth of a bifid ventral pancreatic bud around the duodenum, where the parts of the bifid ventral bud fuse with the dorsal bud, forming a pancreatic ring. It can also result if the ventral pancreatic bud fails to fully rotate, so it remains on the right or if the dorsal bud rotates in the wrong direction, such that the duodenum is surrounded by pancreatic tissue. Blockage of the duodenum develops if inflammation (pancreatitis) develops in the annular pancreas.
Not all patients with Schatzki rings have symptoms; barium swallow tests of the esophagus sometimes show Schatzki rings in patients with no swallowing difficulties.
When Schatzki rings cause symptoms, they usually result in episodic difficulties with swallowing (dysphagia) solid foods, or a sensation that the food "sticks" while swallowing, especially if the food is not chewed thoroughly. Patients usually are able to regurgitate or force through the food material and resume eating. However, complete obstruction of the esophagus by a bolus of food (often called steakhouse syndrome) can occur. This can cause crushing chest pain and may need immediate treatment with endoscopy, which is the use of a specialized fibre-optic camera in order to remove the lodged food. After the obstruction is located, snares or forceps are inserted to pull the food out of the esophagus or to push it into the stomach. The latter is done with caution, usually when the anatomy of the structures around the obstruction is already known.
Frenulum breve, or short frenulum, is a condition in which the frenulum of the penis, which is an elastic band of tissue under the glans penis that connects to the foreskin and helps contract it over the glans, is too short and thus restricts the movement of the foreskin. The frenulum should normally be sufficiently long and supple to allow for the full retraction of the foreskin so that it lies smoothly back on the shaft of the erect penis.
The penile frenulum is comparable to the tongue's frenulum between the tongue's lower surface and the lower jaw, or the frenulum between the upper lip and the outside of the upper gum.
A direct inguinal hernia is less common (~25–30% of inguinal hernias) and usually occurs in men over 40 years of age.
Men have an 8 times higher incidence of inguinal hernia than women.
Treatment usually is bypassing the obstructed segment of duodenum by duodeno-jejunostomy. Another approach is laparoscopic gastrojejunostomy or duodenojejunostomy.
The most common problem with syndactyly correction is creeping of the skin towards the fingertip over time. This is likely due to tension at the site of the repair between the digits. Additional surgery may be required to correct this. One critique of using skin grafts is that the grafts darken in the years after surgery and become more noticeable. Also, if the skin grafts are harvested from the groin area, the skin may grow hair. Finally, the fingers may deviate after surgery. This is most commonly seen in complex syndactyly (when there has been a bony joining of the fingers).
Five types of syndactyly have been identified in humans. The corresponding loci associated with these types and their common phenotypical expression are as follows:
- "type I": 2q34-q36; webbing occurs between middle and ring fingers and/or second and third toes.
- "type II": 2q31; also involves long and ring fingers, but has a sixth finger merged in between.
- "type III": 6q21-q23; small finger is merged into the ring finger.
- "type IV": 7q36; involves all fingers and/or toes.
- "type V": 2q31-q32; similar to type I, but the metacarpals and metatarsals may also be fused.
Retrospective data of over 182,000 births, with the statistical power to determine even mild associations, suggest that a single or multiple nuchal cords at the time of delivery is not associated with adverse perinatal outcomes, is associated with higher birthweights and fewer caesarean sections in births. Although some studies have found that a tight nuchal cord is associated with short term morbidity, it is unclear whether such outcomes are actually a result of the presence of the nuchal cord itself, or as a result of clamping and cutting the cord
Management of a presenting nuchal cord should be tailored to prevent umbilical cord compression whenever possible. Techniques to preserve an intact nuchal cord depend on how tightly the cord is wrapped around the infant’s neck. If the cord is loose, it can easily be slipped over the infant’s head. The infant can be delivered normally and placed on maternal abdomen as desired. If the cord is too tight to go over the infant’s head, the provider may be able to slip it over the infant’s shoulders and deliver the body through the cord. The cord can then be unwrapped from around the baby after birth. Finally, if the cord is too tight to slip back over the shoulders, one may use the somersault maneuver to allow the body to be delivered. The birth attendant may also choose to clamp and cut the umbilical cord to allow for vaginal delivery if other methods of nuchal cord management are not feasible.
Many people are managed through day surgery centers, and are able to return to work within a week or two, while intense activities are prohibited for a longer period. People who have their hernias repaired with mesh often recover within a month, though pain can last longer. Surgical complications include pain that lasts more than three months, surgical site infections, nerve and blood vessel injuries, injury to nearby organs, and hernia recurrence. Pain that lasts more than three months occurs in about 10% of people following hernia repair.
Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by the formation of a ring-shaped chromosome. It was first reported in 1964.
About 27% of males and 3% of females develop a groin hernia at some time in their life. In 2013 about 25 million people had a hernia. Inguinal, femoral and abdominal hernias resulted in 32,500 deaths globally in 2013 and 50,500 in 1990.
Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.
Little is known regarding the exact causes of aortic arch anomalies. However, the association with chromosome 22q11 deletion (CATCH 22) implies that a genetic component is likely in certain cases. Esophageal atresia also occurs in some patients with double aortic arch.
Surgical correction of inguinal hernias is called a hernia repair. It is not recommended in minimally symptomatic hernias, for which watchful waiting is advised, due to the risk of post herniorraphy pain syndrome. Surgery is commonly performed as outpatient surgery. There are various surgical strategies which may be considered in the planning of inguinal hernia repair. These include the consideration of mesh use (e.g. synthetic or biologic), open repair, use of laparoscopy, type of anesthesia (general or local), appropriateness of bilateral repair, etc. Laparoscopy is most commonly used for non-emergency cases, however, a minimally invasive open repair may have a lower incidence of post-operative nausea and mesh associated pain. During surgery conducted under local anaesthesia, the patient will be asked to cough and strain during the procedure to help in demonstrating that the repair is without tension and sound.
Constipation after hernia repair results in strain to evacuate the bowel causing pain, and fear that the sutures may rupture. Opioid analgesia makes constipation worse. Promoting an easy bowel motion is important post-operatively.
Surgical correction is always recommended for inguinal hernias in child.
Emergency surgery for incarceration and strangulation carry much higher risk than planned, "elective" procedures. However, the risk of incarceration is low, evaluated at 0.2% per year. On the other hand, surgery has a risk of inguinodynia (10-12%), and this is why males with minimal symptoms are advised to watchful waiting. However, if they experience discomfort while doing physical activities or they routinely avoid them by the fear of pain, they should seek surgical evaluation. For female patients, surgery is recommended even for asymptomatic patients.
Ring 18 causes a wide range of medical and developmental concerns. As discussed above, people with ring 18 can have features of both distal 18q- and 18p-. The features of distal 18q- and 18p- vary greatly because of the variability of the deletion size and breakpoint locations between people. Because ring 18 can involve unique deletions of both the p and q arms of the chromosome there is twice as much reason for the variability between individuals. This variation is also partly attributable to the incidence of mosaicism, which is relatively common in people with ring 18.
- Holoprosencephaly has been reported in some people with ring 18. This is due to the deletion of the TGIF gene on the short arm of chromosome 18 in some people with ring 18.Approximately 30-40% of people with ring 18 have a congenital heart anomaly. Septal defects are the most common type of defect reported in this population.
- Hypotonia is frequently seen in the ring 18 population. Seizures, though uncommon, have been reported in people with ring 18.
- In some children without “classic” holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing olfactory tracts and bulbs and absent or hypoplastic corpus callosum.
- Strabismus as well as nystagmus have both been reported in infants and children with ring 18.
- Hearing loss has been reported and may be related to ear canal atresia or stenosis.
- Umbilical and inguinal hernias have been reported in a small number of people with ring 18.
- Unilateral renal hypoplasia and aplasia have both been reported in individuals with ring 18. Hydronephrosis as well as pyelonephritis have also been reported in a few individuals. Cryptorchidism, hypospadias, and micropenis have been seen in males with ring 18, while females have been reported with hypoplastic labia.
- Foot abnormalities are common within the ring 18 population. Scoliosis as well as pectus excavatum have also been frequently reported.
- Several people with ring 18 have growth hormone deficiency. Hypothyroidism has also been reported in a minority of people.
- Cognitive ability varies; according to a literature review, the degree of impairment may fall anywhere between the mild and severe ends of the spectrum.
- Facial features of ring 18 include low-set, dysplastic ears, epicanthic folds, and hypertelorism. Micrognathia has also been reported.