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The prognostic outcomes for this type of cloaca are good for bowel control and urinary function. The surgical repair for this type of cloaca can usually be done by performing posterior sagittal approach without opening of the abdomen. A common channel longer than 3 cm in length usually has poor sphincter muscles and a poor sacrum, suggesting a prognostic outcome for bowel control and urinary function to be less likely. Common channels longer than 3 cm are generally considered more complex and more technically challenging in surgical repair.
An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.
Diagnosis of a female with cloaca should be suspected in a female born with an imperforate anus and small looking genitalia. The diagnosis can be made clinically. Failure to identify a cloaca as being present in a newborn may be dangerous, as more than 90% have associated urological problems. The goal for treatment of a female born with cloaca is to achieve bowel control, urinary control, and sexual function, which includes menstruation, sexual intercourse, and possibly pregnancy. Cloacas probably occur in 1 in 20,000 live births.
Imperforate anus usually requires immediate surgery to open a passage for feces unless a fistula can be relied on until corrective surgery takes place. Depending on the severity of the imperforate, it is treated either with a perineal anoplasty or with a colostomy.
While many surgical techniques to definitively repair anorectal malformations have been described. The posterior sagittal approach (PSARP) has become the most popular. It involves dissection of the perineum without entry into the abdomen and 90% of defects in boys can be repaired this way.
The prognosis for vaginal atresia is one that is complicated. There are variations in patients' anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition. Along with other conditions that give rise to an abnormal perineum (i.e. ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal atresia often report reconstruction as an outcome of treatment. Due to this, it is difficult to compare outcomes between individuals with vaginal atresia.
When an infant is born with an anorectal malformation, it is usually detected quickly as it is a very obvious defect. Doctors will then determine the type of birth defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and avoid further sequelae. There are two main categories of anorectal malformations: those that require a protective colostomy and those that do not. The decision to open a colostomy is usually taken within the first 24 hours of birth.
Sonography can be used to determine the type of imperforate anus.
Fertility options for girls and women with Rokitansky-Mayer-Küster-Hauser syndrome has a bit more information. Girls and women who are born without a complete vagina, but still have a regular sized uterus more than likely will be able to become pregnant and have a baby. However, if the female is born with a tiny uterus, or without a uterus, they will not be able to have a baby. As the ovaries may be normal in this case, the egg may be fertilized with a donor's or partner's sperm. In this case, surrogacy, would be an option where there will be a gestational carrier to carry the pregnancy for the couple. Adoption may also be an option for females with Rokitansky-Mayer-Küster-Hauser syndrome. Another possibility could be uterine transplants, however this a new and developing form of treatment. Fertility options are being researched daily, so there can always be a new method available.
Any pain associated with Rokitansky-Mayer-Küster-Hauser syndrome comes from menstruation related cramping and can be treated with several ways. Individuals with this syndrome may be born with a uterine remnant (tiny uterus), which can fill with become filled with blood in the pelvic cavity causing pain. A medical professional can assess the severity of having a uterine remnant within each patient to determine if removal of the uterus is necessary.
International Omphalocele Awareness Day is celebrated annually on January 31, as part of Birth Defect Awareness Month. Several U.S. states have passed resolutions to officially recognize the date.
Ultrasound is the often chosen to examine the duct and determine the presence and size of any cysts or abnormalities. Fine-needle aspiration cytology can also be used to confirm the diagnosis.
Surgery (orchiopexy) to retrieve the testes and position them in the scrotum is the primary treatment. Occasionally they are unsalvageable if located high in the retroperitoneum. During this surgery, the uterus is usually removed and attempts made to dissect away Müllerian tissue from the vas deferens and epididymis to improve the chance of fertility. If the person has male gender identity himself and the testes cannot be retrieved, testosterone replacement will be usually necessary at puberty should the affected individual choose to pursue medical attention. Lately, laparoscopic hysterectomy is offered to patients as a solution to both improve the chances of fertility and to prevent the occurrences of neoplastic tissue formation.
Umbilical cord compression may be relieved by the mother switching to another position. In persistent severe signs of fetal distress, Cesarean section may be needed.
In order to prevent further cysts and infections from forming, the thyroglossal duct and all of its branches are removed from the throat and neck area. A procedure, known as the Sistrunk procedure, is considered to be the standard procedure and involves removal of portions of the hyoid bone and core tissue of the suprahyoid region. Cysts will often reoccur if the entire duct is not removed, so reoccurrence requires a wider range of tissue to be removed in a subsequent surgery.
Delaying the surgical procedure almost always leads to recurrent infections, which will continue to delay the needed treatment. The Sistrunk procedure has a reoccurrence rate of less than 5%, proving it is extremely effective at removing the majority of traces of the persistent thyroglossal duct.
Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the upper part of the vagina) in what would be considered a genetically and otherwise physically normal male animal by typical human based standards. In humans, PMDS typically is due to an autosomal recessive congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives.
Typical features include undescended testes (cryptorchidism) and the presence of a small, underdeveloped uterus in an XY infant or adult. This condition is usually caused by deficiency of fetal anti-Müllerian hormone (AMH) effect due to mutations of the gene for AMH or the anti-Müllerian hormone receptor, but may also be as a result of insensitivity to AMH of the target organ.
Most women with GTD can become pregnant again and can have children again. The risk of a further molar pregnancy is low. More than 98% of women who become pregnant following a molar pregnancy will not have a further hydatidiform mole or be at increased risk of complications.
In the past, it was seen as important not to get pregnant straight away after a GTD. Specialists recommended a waiting period of 6 months after the hCG levels become normal. Recently, this standpoint has been questioned. New medical data suggest that a significantly shorter waiting period after the hCG levels become normal is reasonable for approximately 97% of the patients with hydatidiform mole.
Urethrorrhagia refers to urethral bleeding in the absence of urine associated with dysuria and blood spots on underwear after voiding. This condition, which often occurs in prepubertal boys at intervals several months apart over a period of many years, has a benign self-limited course. Radiological studies as well as endoscopic procedures are unnecessary in the early management of these patients thus being relegated to recurrent or persistent bleeding.
On cardiotocography (CTG), umbilical cord compression can present with variable decelerations in fetal heart rate.
Women with a hydatidiform mole have an excellent prognosis. Women with a malignant form of GTD usually have a very good prognosis.
Choriocarcinoma, for example, is an uncommon, yet almost always curable cancer. Although choriocarcinoma is a highly malignant tumour and a life-threatening disease, it is very sensitive to chemotherapy. Virtually all women with non-metastatic disease are cured and retain their fertility; the prognosis is also very good for those with metastatic (spreading) cancer, in the early stages, but fertility may be lost. Hysterectomy (surgical removal of the uterus) can also be offered to patients > 40 years of age or those for whom sterilisation is not an obstacle. Only a few women with GTD have a poor prognosis, e.g. some forms of stage IV GTN. The FIGO staging system is used. The risk can be estimated by scoring systems such as the "Modified WHO Prognostic Scoring System", wherein scores between 1 and 4 from various parameters are summed together:
In this scoring system, women with a score of 7 or greater are considered at high risk.
It is very important for malignant forms of GTD to be discovered in time. In Western countries, women with molar pregnancies are followed carefully; for instance, in the UK, all women who have had a molar pregnancy are registered at the National Trophoblastic Screening Centre. There are efforts in this direction in the developing countries too, and there have been improvements in these countries in the early detection of choriocarcinoma, thereby significantly reducing the mortality rate also in developing countries.
Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow. The surgery is open heart, and the patient will be placed on cardiopulmonary bypass to allow the surgeon to work on a still heart. The heart is opened and the ventricular septal defect is closed with a patch. The pulmonary arteries are then detached from the common artery (truncus arteriosus) and connected to the right ventricle using a tube (a conduit or tunnel). The common artery, now separated from the pulmonary circulation, functions as the aorta with the truncal valve operating as the aortic valve. Most babies survive this surgical repair, but may require further surgery as they grow up. For example, the conduit does not grow with the child and may need to be replaced as the child grows. Furthermore, the truncal valve is often abnormal and may require future surgery to improve its function.
There have been cases where the condition has been diagnosed at birth and surgical intervention is an option. A number of these cases have survived well into adulthood.
Some individuals may benefit from diet modification, such as a reduced fat diet, following cholecystectomy. The liver produces bile and the gallbladder acts as reservoir. From the gallbladder, bile enters the intestine in individual portions. In the absence of gallbladder, bile enters the intestine constantly, but in small quantities. Thus, it may be insufficient for digestion of fatty foods. Postcholecystectomy syndrome treatment depends on the identified violations that led to it. Typically, the patient is recommended dietary restriction table with fatty foods, enzyme preparations, antispasmodics, sometimes cholagogue.
If the pain is caused by biliary microlithiasis, oral ursodeoxycholic acid can alleviate the condition.
A trial of bile acid sequestrant therapy is recommended for bile acid diarrhoea.
In PLSVC, the left brachiocephalic vein does not develop fully and the left upper limb and head & neck drain into the right atrium via the coronary sinus.
The variation, in isolation, is considered benign, but is very frequently associated with cardiac abnormalities (e.g. ventricular septal defect, atrioventricular septal defect) that have a significant mortality and morbidity. It is more frequent in patients with congenital heart defects.
A urachal cyst is a sinus remaining from the allantois during embryogenesis. It is a cyst which occurs in the remnants between the umbilicus and bladder. This is a type of cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus. Urachal cysts are usually silent clinically until infection, calculi or adenocarcinoma develop.
The most well-known classification was the fourfold system developed by Collett and Edwards in 1949. Collett/Edwards Types I, II, and III are distinguished by the branching pattern of the pulmonary arteries:
- Type I: truncus -> one pulmonary artery -> two lateral pulmonary arteries
- Type II: truncus -> two posterior/posterolateral pulmonary arteries
- Type III: truncus -> two lateral pulmonary arteries
The "Type IV" proposed in 1949 is no longer considered a form of PTA by most modern sources.
Another well-known classification was defined by Van Praaghs in 1965.
In anatomy, a persistent left superior vena cava (PLSVC) is the most common variation of the thoracic venous system, is prevalent in 0.3% of the population, and an embryologic remnant that results from a failure to involute.
Biliary microlithiasis refers to the creation of small gallstones less than 3mm in diameter in the biliary duct or gallbladder.
It has been suggested as a cause of postcholecystectomy syndrome, or PCS, the symptoms of which include:
- Upset stomach, nausea, and vomiting.
- Gas, bloating, and diarrhea.
- Persistent pain in the upper right abdomen.
MdDS is diagnosed several ways, one being by the symptoms: in particular, the "constant rocking, swaying feeling" and the abatement of this feeling when in motion again and as a matter of exclusion. There are no definitive tests that confirm MdDS, only tests that rule out other conditions. Tests include hearing and balance, and MdDS is generally diagnosed by either a neurologist or an ear nose & throat specialist.