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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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Renal ectopia or ectopic kidney describes a kidney that is not located in its usual position. It results from the kidney failing to ascend from its origin in the true pelvis or from a superiorly ascended kidney located in the thorax.
It has an incidence of approximately 1/900.
Duplicated ureter is the most common renal abnormality, occurring in approximately 1% of the population.
Race: Duplicated ureter is more common in Caucasians than in African-Americans.
Sex: Duplicated ureter is more common in females. However, this may be due to the higher frequency of urinary tract infections in females, leading to a higher rate of diagnosis of duplicated ureter.
Duplicated ureter or Duplex Collecting System is a congenital condition in which the ureteric bud, the embryological origin of the ureter, splits (or arises twice), resulting in two ureters draining a single kidney. It is the most common renal abnormality, occurring in approximately 1% of the population. The additional ureter may result in a ureterocele, or an ectopic ureter.
Urethral diverticulum can occur in men, and can cause complications including kidney stones and urinary tract infections.
The incidence of urethral diverticulum has been increasing in the 2000s, likely due to increasing diagnosis and detection of the condition. It is estimated to be present in as low as 0.02% of all women and as high as 6% of all women, and 40% of women with lower urinary tract symptoms. Most symptomatic urethral diverticula are present in women from 30–60 years old.
84% of periurethral masses are due to urethral diverticula.
Ectopic ureter (or ureteral ectopia) is a medical condition where the ureter, rather than terminating at the urinary bladder, terminates at a different site. In males this site is usually the urethra, in females this is usually the urethra or vagina. It can be associated with renal dysplasia, frequent urinary tract infections, and urinary incontinence (usually continuous drip incontinence). Ectopic ureters are found in 1 of every 2000–4000 patients, and can be difficult to diagnose, but are most often seen on CT scans.
Ectopic ureter is commonly a result of a duplicated renal collecting system, a duplex kidney with 2 ureters. In this case, usually one ureter drains correctly to the bladder, with the duplicated ureter presenting as ectopic.
Ectopic thymus is a condition where thymus tissue is found in an abnormal location.
It can be associated with failure of descent.
It can also be associated with failure of involution.
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It is also known as Greenberg dysplasia. Greenberg characterized the condition in 1988.
It has been associated with the lamin B receptor.
Imperforate anus has an estimated incidence of 1 in 5000 births. It affects boys and girls with similar frequency. However, imperforate anus will present as the low version 90% of the time in females and 50% of the time in males.
Imperforate anus is an occasional complication of sacrococcygeal teratoma.
Stafne defect is uncommon, and has been reported to develop anywhere between the ages of 11 and 30 years old, (although the defect is developmental, it does not seem to be present form birth, implying that the lesion develops at a later age). Usually the defect is unilateral (on one side only) and most commonly occurs in men.
The thyroglossal tract arises from the foramen cecum at the junction of the anterior two-thirds and posterior one-third of the tongue. Any part of the tract can persist, causing a sinus, fistula or cyst. Most fistulae are acquired following rupture or incision of the infected thyroglossal cyst. A thyroglossal cyst is lined by pseudostratified, ciliated columnar epithelium while a thyroglossal fistula is lined by columnar epithelium.
Thyroglossal Duct Cysts are a birth defect. During embryonic development, the thyroid gland is being formed, beginning at the base of the tongue and moving towards the neck canal, known as the thyroglossal duct. Once the thyroid reaches its final position in the neck, the duct normally disappears. In some individuals, portions of the duct remain behind, leaving small pockets, known as cysts. During a person's life, these cyst pockets can fill with fluids and mucus, enlarging when infected, presenting the thyroglossal cyst.
A Gartner's duct cyst (sometimes incorrectly referred to as "vaginal inclusion cyst") is a benign vaginal cystic lesion that arises from the Gartner's duct, which is a vestigial remnant of the mesonephric duct (wolffian duct) in females. They are typically small asymptomatic cysts that occur along the lateral walls of the vagina, following the course of the duct. They can present in adolescence with painful menstruation (Dysmenorrhea) or difficulty inserting a tampon. They can also enlarge to substantial proportions and be mistaken for urethral diverticulum or other structures.
There is a small association between Gartner's duct cysts and metanephric urinary anomalies, such as ectopic ureter & ipsilateral renal hypoplasia. Because of this, imaging is recommended before excision.
With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.
For children who have a poor outcome for continence and constipation from the initial surgery, further surgery to better establish the angle between the anus and the rectum may improve continence and, for those with a large rectum, surgery to remove that dilated segment may significantly improve the bowel control for the patient. An antegrade enema mechanism can be established by joining the appendix to the skin (Malone stoma); however, establishing more normal anatomy is the priority.
Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities, most commonly cryptorchidism.
The anomaly was first described in 1883 by Bostroem. Since then more than 150 cases of splenogonadal fusion have been documented. The condition is considered benign. A few cases of testicular neoplasm have been reported in association with splenogonadal fusion. The reported cases have occurred in patients with a history of cryptorchidism, which is associated with an elevated risk of neoplasm.
Splenogonadal fusion occurs with a male-to-female ratio of 16:1, and is seen nearly exclusively on the left side. The condition remains a diagnostic challenge, but preoperative consideration of the diagnosis may help avoid unnecessary orchiectomy. On scrotal ultrasound, ectopic splenic tissue may appear as an encapsulated homogeneous extratesticular mass, isoechoic with the normal testis. Subtle hypoechoic nodules may be present in the mass. The presence of splenic tissue may be confirmed with a technetium-99m sulfur colloid scan.
Affected individuals have a somewhat shortened lifespan. The maximum described lifespan is 67 years. Adults with 13q deletion syndrome often need support services to maintain their activities of daily living, including adult day care services or housing services.
One person in every 100,000 is affected. Ollier disease is not normally diagnosed until toddler years because it is not very visible.
Ollier disease carries a high risk of skeletal, visceral and brain malignancy which occurs in approximately 25% of patients. Juvenile granulosa cell tumour has been associated with the disease. The incidence of secondary chondrosarcoma in Ollier disease is not known, but may be as high as 25%, pelvis and shoulder girdle being the commonest locations. A related disorder called Maffucci syndrome named after Angelo Maffucci is characterized by enchondromas associated with multiple hemangiomas which usually occur in the hands and feet. Maffucci syndrome carries a higher risk for cancer.
The occurrence of ectopia cordis is 8 per million births. It is typically classified according to location of the ectopic heart, which includes:
- Cervical
- Thoracic
- Thoracoabdominal
- Abdominal
Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases.
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. It causes intellectual disability and congenital malformations that affect a variety of organ systems.
Ectopic ossification of the heart valves is an indicator of future heart problems, hyperparathyroidism, and necrosis of tissues.
A ectopic testis is a testicle that, although not an undescended testicle, has taken a non-standard path through the body and ended up in an unusual location.
The positions of the ectopic testis may be: in the lower part of the abdomen, front of thigh, femoral canal, skin of penis or behind the scrotum. The testis is usually developed, and accompanied by an indirect inguinal hernia. It may be divorced from the epididymis which may lie in the scrotum.
Hypoparathyroidism: In this situation, there are low levels of parathyroid hormone (PTH). PTH normally inhibits reabsorption of phosphate by the kidney. Therefore, without enough PTH there is more reabsorption of the phosphate leading to a high phosphate level in the blood.
Chronic renal failure: When the kidneys are not working well, there will be increased phosphate retention.
Drugs: hyperphosphatemia can also be caused by taking oral sodium phosphate solutions prescribed for bowel preparation for colonoscopy in children.
Signs and symptoms include ectopic calcification, secondary hyperparathyroidism, and renal osteodystrophy. Abnormalities in phosphate metabolism such as hyperphosphatemia are included in the definition of the new chronic kidney disease-mineral and bone disorder (CKD-MBD).
The Stafne defect (also termed Stafne's idiopathic bone cavity, Stafne bone cavity, Stafne bone cyst (misnomer), lingual mandibular salivary gland depression, lingual mandibular cortical defect, latent bone cyst, or static bone cyst) is a depression of the mandible on the lingual surface (the side nearest the tongue). The Stafne defect is thought to be a normal anatomical variant, as the depression is created by ectopic salivary gland tissue associated with the submandibular gland and does not represent a pathologic lesion as such.