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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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There is no cure for this condition. Treatment is supportive and varies depending on how symptoms present and their severity. Some degree of developmental delay is expected in almost all cases of M-CM, so evaluation for early intervention or special education programs is appropriate. Rare cases have been reported with no discernible delay in academic or school abilities.
Physical therapy and orthopedic bracing can help young children with gross motor development. Occupational therapy or speech therapy may also assist with developmental delays. Attention from an orthopedic surgeon may be required for leg length discrepancy due to hemihyperplasia.
Children with hemihyperplasia are thought to have an elevated risk for certain types of cancers. Recently published management guidelines recommend regular abdominal ultrasounds up to age eight to detect Wilms' tumor. AFP testing to detect liver cancer is not recommended as there have been no reported cases of hepatoblastoma in M-CM patients.
Congenital abnormalities in the brain and progressive brain overgrowth can result in a variety of neurological problems that may require intervention. These include hydrocephalus, cerebellar tonsillar herniation (Chiari I), seizures and syringomyelia. These complications are not usually congenital, they develop over time often presenting complications in late infancy or early childhood, though they can become problems even later. Baseline brain and spinal cord MRI imaging with repeat scans at regular intervals is often prescribed to monitor the changes that result from progressive brain overgrowth.
Assessment of cardiac health with echocardiogram and EKG may be prescribed and arrhythmias or abnormalities may require surgical treatment.
Prognosis varies widely depending on severity of symptoms, degree of intellectual impairment, and associated complications. Because the syndrome is rare and so newly identified, there are no long term studies.
In general, the prognosis is very good. Children with BWS usually do very well and grow up to become the heights expected based on their parents' heights. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully.
Children with BWS for the most part had no significant delays when compared to their siblings. However, some children with BWS do have speech problems that could be related to macroglossia or hearing loss.
Advances in treating neonatal complications and premature infants in the last twenty years have significantly improved the true infant mortality rate associated with BWS. In a review of pregnancies that resulted in 304 children with BWS, no neonatal deaths were reported. This is compared to a previously reported mortality rate of 20%. The data from the former study was derived from a BWS registry, a database that may be slightly biased towards involving living children; however, death was not an exclusion criterion to join the registry. This suggests that while infants with BWS are likely to have a higher than normal infant mortality risk, it may not be as high as 20%.
Assisted reproductive technology (ART) is a general term referring to methods used to achieve pregnancy by artificial or partially artificial means. According to the CDC, in general, ART procedures involve surgically removing eggs from a woman's ovaries, combining them with sperm in the laboratory, and returning them to the woman's body or donating them to another woman. ART has been associated with epigenetic syndromes, specifically BWS and Angelman syndrome. Three groups have shown an increased rate of ART conception in children with BWS. A retrospective case control study from Australia found a 1 in 4000 risk of BWS in their in-vitro population, several times higher than the general population. Another study found that children conceived by in vitro fertilisation (IVF) are three to four times more likely to develop the condition. No specific type of ART has been more closely associated with BWS. The mechanism by which ART produces this effect is still under investigation.
Perlman syndrome shares clinical overlaps with other overgrowth disorders, with similarities to Beckwith–Wiedemann syndrome and Simpson-Golabi-Behmel syndrome having been particularly emphasized in scientific study. Similarities with Beckwith-Wiedemann syndrome include polyhydramnios, macrosomia, nephromegaly and hypoglycaemia. It is the distinctive facial dysmorphology of Perlman, including deep-set eyes, depressed nasal bridge, everted upper lip, and macrocephaly which allows the two conditions to be distinguished from one another. Diagnosis of Perlman syndrome also overlaps with other disorders associated with Wilms tumor, namely, Sotos syndrome and Weaver syndrome.
Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder present at birth. It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality.
Management of shoulder dystocia has become a focus point for many obstetrical nursing units in North America. Courses such as the Canadian More-OB program encourage nursing units to do routine drills to prevent delays in delivery which adversely affect both mother and fetus. A common treatment mnemonic is ALARMER
- Ask for help. This involves preparing for the help of an obstetrician, for anesthesia, and for pediatrics for subsequent resuscitation of the infant that may be needed if the methods below fail.
- L hyperflexion (McRoberts' maneuver)
- Anterior shoulder disimpaction (pressure)
- Rubin maneuver
- M delivery of posterior arm
- Episiotomy
- Roll over on all fours
Typically the procedures are performed in the order listed above and the sequence ends whenever a technique is successful. Intentional clavicular fracture is a final attempt at nonoperative vaginal delivery prior to Zavanelli's maneuver or symphysiotomy, both of which are considered extraordinary treatment measures.
Courses that teach procedures include ALSO and PROMPT. A number of labor positions and/or obstetrical maneuvers are sequentially performed in attempt to facilitate delivery at this point, including :
- McRoberts maneuver; The McRoberts maneuver is employed in case of shoulder dystocia during childbirth and involves hyperflexing the mother's legs tightly to her abdomen. This widens the pelvis, and flattens the spine in the lower back (lumbar spine). If this maneuver does not succeed, an assistant applies pressure on the lower abdomen (suprapubic pressure), and the delivered head is also gently pulled. The technique is effective in about 42% of cases
- suprapubic pressure (or Rubin I)
- Rubin II or posterior pressure on the anterior shoulder, which would bring the fetus in an oblique position with head somewhat towards the vagina
- Woods' screw maneuver which leads to turning the anterior shoulder to the posterior and vice versa (somewhat the opposite of Rubin II maneuver)
- Jacquemier's maneuver (also called Barnum's maneuver), or delivery of the posterior shoulder first, in which the forearm and hand are identified in the birth canal, and gently pulled.
- Gaskin maneuver, named after Certified Professional Midwife, Ina May Gaskin, involves moving the mother to an all fours position with the back arched, widening the pelvic outlet.
More drastic maneuvers include
- Zavanelli's maneuver, which involves pushing the fetal head back in with performing a cesarean section. or internal cephalic replacement followed by Cesarean section
- intentional fetal clavicular fracture, which reduces the diameter of the shoulder girdle that requires to pass through the birth canal.
- maternal symphysiotomy, which makes the opening of the birth canal laxer by breaking the connective tissue between the two pubes bones facilitating the passage of the shoulders.
- abdominal rescue, described by O'Shaughnessy, where a hysterotomy facilitates vaginal delivery of the impacted shoulder