PHILADELPHIA INTERNATIONAL MEDICINE® NEWS BUREAU
Contact: Leonard N. Karp
lkarp@philadelphiamedicine.com
215-735-3989
In this month's edition of the PIM News Bureau:
1. Crozer Fertility Center Offers New Option for Patients
2. Procedure at Jefferson Can Allow Some Transplants from Incompatible Living Donors
3. New Tool Helps Doctors Predict PTSD Following a Child Traumatic Injury
Crozer Fertility Center Offers New Option for Patients
Philadelphia - Pre-implantation Genetic Diagnosis (PGD), a state-of-the-art procedure, offered in conjunction with in vitro fertilization (IVF), that permits genetic testing on the resulting embryos prior to transfer, is now available at The Reproductive Endocrinology and Fertility Center at Crozer-Keystone Health System, a member of Philadelphia International Medicine.
This procedure offers new hope to patients that are of advanced maternal age, have a history of recurrent miscarriage, recurrent in vitro fertilization (IVF) failure, male factor infertility and known family genetic abnormalities or diseases.
"We are proud to continue to be on the forefront of scientific advancement and provide this state-of-the-art technology to help our patients," says Albert El-Roeiy, MD, medical director of the Reproductive Endocrinology and Fertility Center at Crozer. "PGD is taking us to the point where we not only help our patients have a child, but a healthy child."
Introduced in June, PGD is performed as part of an IVF cycle where multiple eggs are produced, retrieved from the ovaries and fertilized with the partner's sperm. At their earliest stage of development, one or two cells are removed from each embryo through a procedure called embryo biopsy. These cells are analyzed to determine which are free of genetic abnormalities. Genetic disorders diagnosed by the procedure include, but are not limited to: Cystic Fibrosis, Downs Syndrome, Tay-Sachs disease, Sickle Cell Disease, Hemophilia A and B, Retinitis, Hydrocephalus, Thalassemia, Neurofibromatosis, Duchenne Muscular Dystrophy, Huntington's Disease and Fragile X Syndrome.
"In recent years, significant advances in technology have enabled researchers to trace many disorders and diseases to their roots in the genetic code," says Charlene A. Alouf, PhD., director of the Fertility Center Laboratory at Crozer. "This ability to recognize these genetic warning signs at such an early stage is quickly becoming an effective tool for us to use to decrease the risk of having an affected baby."
Like other fertility treatments, PGD has some risks and there are no guarantees that the procedure will result in the birth of a child without genetic defects. Based on larger studies, there is an approximate 10 percent error rate that is largely based on the fact that genetic testing is only performed on one or two cells from the embryo. Some embryos contain cells that are both genetically normal and abnormal. This may result in the transfer of an embryo carrying a chromosomal abnormality, or failure to transfer a normal embryo.
"PGD has opened the doors to many individuals that in the past may not have benefited from the Fertility Center," adds El-Roeiy. "We're proud to add this procedure to our extensive list of fertility options and laboratory services and look forward to continuing to provide patients with state-of-the-art treatment in a compassionate environment."
Procedure at Jefferson Can Allow Some Transplants from Incompatible Living
Donors
Crossmatch incompatible kidney transplants, which can allow transplant recipients to receive kidneys from living donors who are incompatible because of donor antibodies that previously would cause immediate and irreversible rejection, are being performed by surgeons at Thomas Jefferson University Hospital, a member of Philadelphia International Medicine.
Transplant Surgeon Lloyd Ratner, MD, director of transplantation at Jefferson, who developed the procedure when he was at Johns Hopkins in Baltimore, performed the kidney transplant at Jefferson Hospital. The procedure involved a 55-year-old woman who received a kidney from her adult son.
"Crossmatch incompatible transplantation and the similar ABO bloodgroup incompatible kidney transplantation have the potential to increase transplant opportunities for profoundly ill patients who otherwise may have been prevented from being transplanted or who would have waited for an extended period of time," said Dr. Ratner. This procedure will increase the availability of living donor organs."
More than one-third of willing donors are turned down because their blood types are not compatible with the person to whom they wish to donate their kidney. Another 10 percent of patients have antibodies against potential donors making them incompatible.
Dr. Ratner said this type of transplant has been shown to be very successful. "Studies indicate that crossmatch incompatible and blood type incompatible kidney transplants work as well as conventional transplants and last as long."
Patients typically can receive organs only from donors compatible with their own blood type (i.e., A, B or O). Otherwise, naturally occurring antibodies to the different blood type would trigger the immune system to destroy the transplanted kidney. ABO-incompatible transplantation increases the availability of kidneys from living donors, particularly from relatives who would be willing to donate a kidney to save the life of a loved one.
The woman recipient developed kidney failure due to a long history of diabetes. Her 28-year-old son, a computer programmer, offered to donate a kidney to his mother after learning that she might have to go on hemodialysis if a new kidney were not available. The recipient's younger son was tested as a possible donor, but the elder sibling was a better match, said Dr. Ratner.
A kidney from a living donor is preferable to a cadaver organ for several reasons: A shorter waiting period; the organ can be tested prior to transplant; the organ frequently functions immediately after transplant; and the organ typically lasts much longer.
In order to receive an ABO-incompatible or crossmatch incompatible transplant, the patient must undergo plasmapheresis, a dialysis-like procedure that removes harmful antibodies from the patient's blood, including those that would potentially destroy an incompatible organ. The patient then receives an infusion of immuneglobulin, a medication that includes many of the regular antibodies needed for a functioning immune system. Plasmapheresis is performed several times prior to transplant, depending on the level of antibodies present.
To prevent the antibodies from returning and damaging the kidney, the recipient has several plasmapheresis treatments and doses of immune globulin after the transplant. In addition, in the case of ABO-bloodgroup incompatible transplants, the recipient's spleen--where antibodies are produced--is removed during the transplant procedure through tiny incisions.
A low level of antibodies may return after the transplant but does not appear to damage the new kidney, Dr. Ratner said.
Normally, a kidney transplant recipient takes three immunosuppressive medications. A recipient who has received either an ABO-incompatible or crossmatch incompatible kidney transplant takes these same three medications, as well as five doses of a fourth medication.
If rejection is suspected, the recipient may need additional plasmapharesis treatments and a kidney biopsy to determine if the rejection is due to antibodies coming back.
New Tool Helps Doctors Predict PTSD Following a Child Traumatic Injury
Posttraumatic stress disorder (PTSD) in injured children and their parents is common, but under-diagnosed, following a child's traumatic injury. Researchers at The Children's Hospital of Philadelphia, a member of Philadelphia International Medicine, have developed a simple screening tool, involving specific likelihood of a child or parent developing persistent PTSD. The Screening Tool for Early Predictors of PTSD (STEPP) is described in the August 6 issue of the Journal of the American Medical Association.
"Until now, health care providers did not have a simple way to tell, early on, who could be at risk of PTSD after a child injury," said Flaura K. Winston, MD, PhD, study co-author and director of TraumaLink at Children's Hospital. "We hope that acute care physicians can use this screening tool to help determine who should be referred for psychological evaluation and intervention so that families can avoid PTSD."
PTSD is a group of symptoms and reactions that occurs following a traumatic event that persist for a long time (at least one month) and impair an individual's everyday functioning. Symptoms include re-experiencing the trauma (unwanted and upsetting thoughts or memories), avoiding reminders of the trauma, and hyperarousal (jumpiness).
Through their ongoing research, Dr. Winston and her colleagues found that severity of injury is not necessarily a predictor of PTSD. Instead, a combination of event-related factors, early physiological reactions such as heart rate, and early psychological responses serve to predict future development of PTSD.
STEPP was developed in a population of children who had traffic-related injuries and their parents. The STEPP method includes four yes/no questions asked of the parent, four yes/no questions asked of the child, and four items easily obtained from medical records.
To create STEPP, researchers had 171 families complete a 50-question risk factor survey at the initial treatment and complete a three-month follow-up assessment. The STEPP questions were derived from the combination of responses from participants that most often predicted persistent posttraumatic stress at three months. For example, STEPP questions for children ask if they were separated from their parents or had been very afraid. Parent questions ask about feelings of helplessness and whether they had witnessed the child's injury.
Of children who screened positive, 25 percent went on to present with PTSD. Of children who screened negative only 5 percent developed PTSD. Of parents who screened positive, 27 percent developed PTSD symptoms compared to only one percent of parents who screened negative.
"While most parents and children do well following a traumatic injury, STEPP can help find those in need of psychological support," said Nancy Kassam-Adams, Ph.D., study co-author and associate director of behavioral research for TraumaLink at Children's Hospital. "In an environment where mental health resources are scarce, STEPP can serve as a triage tool for psychological referral and intervention."
After pediatric injury, parents can help children cope by talking with their child about what happened and listening carefully to the child's thoughts and feelings, according to Dr. Kassam-Adams. Parents also need to pay attention to their own reactions to the injury and seek support from family and friends.
The researchers say that after an injury parents can look out for signs that a child may be suffering from posttraumatic stress or PTSD: Are there changes in a child's school performance like a sudden decline in grades? Is the child showing new fears or worries, or avoiding things related to the injury? Is he or she having trouble sleeping or concentrating? Is the child jumpy or extra tearful? If bothersome reactions persist beyond a month following the traumatic event, parents should consider seeking help for their child.
The study, funded by the Maternal and Child Health Bureau, is part of the Child and Adolescent Reactions to Injury and Trauma Research Program at TraumaLink, an interdisciplinary pediatric trauma research center at The Children's Hospital of Philadelphia.
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