Doctor insights on:
How To Treat Marfan Syndrome
Noonan syndrome: is a genetic disorder which is not treatable. Management usually consists of a combined effort with a medical team consisting of a cardiologist, hematologist, endocrinologist and dentist, along with a primary care provider for routine vaccinations and coordination of care. ...Read more
Control Inflammation: Patellofemoral pain is caused by inflammation under the knee cap caused by irregular tracking when bending knee. To control symtoms you can ice joint, strengthen inner thigh muscles (vmo), use patella-stabilization brace, and take oral anti-inflammatory medication. Treatment usually requires activity limits for period of time, such as decreased running and staying on soft, flat surfaces. ...Read more
Detection/support: At diagnosis, there are tests that need to be done to look for hidden problems in the heart and blood vessels. Most then need normal care in early childhood until they get close to expected puberty. Referral to a pediatric endocrinologist (hormone doc) will assist their short height and transition into female development. Counseling with a geneticist when she becomes older can help her understand ...Read moreSee 1 more doctor answer
Supportively: Patau is a chromosomal abnormality of trisomy 13. There is no treatment of the cause but the various symptoms can be treated. For example, heart defects can be repaired, polydactyly can be corrected. However, many children live only a short time so often the goal is comfort care. ...Read more
Rx of Sjogren's: Most rheumatologists use hydroxycholorquine based on dosing of 6mg/kg of body weight. I also use auranofin with most patients. I treat fatigue and mental fog with modafinil. Some uncommon but serious problems that can occur in sjogren's have recently been treated with IV rituxan, (rituximab) with reasonably good results. ...Read moreSee 1 more doctor answer
Rett syndrome: Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use .Treatment may include: assistance with feeding and diapering, methods to treat constipation and gerd, physical therapy to help prevent the hands from contracting, weight bearing exercises for those with scoliosis. There is no specific treatment. ...Read more
Depends on the cause: Reiter's syndrome is a reactive arthritis that occurs in response to an infection. The infection can be viral or bacterial. The infection tricks the body into producing an immune response against itself. Symptomatic treatments like steroids and anti-inflammatories can help symptoms. However, the underlying autoimmunity requires drugs to suppress the immune response by a rheumatologist. ...Read moreSee 1 more doctor answer
Supportively: Down syndrome itself does not need to be treated however certain conditions that can go along with ds should be managed and prevented if possible. These include monitoring for disturbances in growth and obesity, getting a cardiac workup to evaluate the heart function, have hearing and vision testing, check thyroid function, monitor the blood yearly for abnormal blood counts, good dental hygiene. ...Read more
Findings on imaging: Certain features of turner syndrome can be seen radiographically. Examples include short forth or fifth fingers, broadened neck, narrow lumbar spinal canal, and streak ovaries on ultrasound and/or ct of pelvis. Coarctation or narrowing of aorta, seen on mr or ct, can occur.Horseshoe or fused kidneys increased incidenehowever diagnosis relies on chromosomal analysis, x0, instead of usual xx female. ...Read more
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