Health Scan: New skin disease deemed too rare to warrant research

Also this week: A man with a human tooth lodged in his wrists; will MDA use Bee Gees as muzak, and more.

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November 8, 2008 19:42
3 minute read.
Health Scan: New skin disease deemed too rare to warrant research

health scan 88. (photo credit: )

A "new" skin disease and the defective gene that causes it have been discovered by doctors at Hadassah University Medical Center in Jerusalem's Ein Kerem. Called Syndrome H, the symptoms include increased hairiness and pigmentation, but it can also harm a variety of other bodily systems. Prof. Avraham Zlotogorsky and Dr. Vered Molcho-Pessah of the hospital's dermatology department reported their discovery (which resulted from patients coming to the dermatology clinic with complaints) in the prestigious American Journal of Human Genetics. Among the gene's other effects are heart disease and enlargement of the liver and spleen. The team identified 10 Arab families in the Jerusalem area who carry the defective gene - a tiny part of a single gene among the tens of thousands that exist. The defective gene was named hENT3. After Zlotogorsky heard of similar symptoms in a patient in Bulgaria, he flew there and confirmed that the person had the gene defect and the disease as well. It is considered a rare "orphan disease," as few people around the world suffer from it, so little medical research or ideas for treatment exist. The Hadassah team say they will continue to research the hereditary disease and try to find a cure. The development of tools to identify carriers of the disease, prenatal tests and screening efforts to reduce consanguinity (marriage of close relatives) will require cooperation among doctors, nurses and social workers within and outside Israel, they said. TOP ACCREDITATION FOR AFULA'S HOSPITAL The Emek Medical Center (EMC) in Afula has just become the only Israeli hospital to receive the prestigious honor of Joint Commission International (JCI) accreditation for healthcare quality and safety. This unique accreditation is endorsed by the World Health Organization (WHO) because it demonstrates that the Emek Medical Center has voluntarily sought an independent review of its commitment to patient safety and quality of care, and has met the highest standards that contribute to good patient outcomes. The hospital said the accreditation demonstrates and ensures its consistency in the delivery of health care. JCI is part of Joint Commission Resources (JCR), an affiliate of the US-based Joint Commission, which accredits over 90% of US hospitals. The Afula hospital said it had "successfully and honorably met the 300 standards and 1,200 measurable elements as set forth by JCI." The JCI team who came to visit gauged the quality of care by tracing the journeys of patients as they moved through the hospital and examining how various departments worked together. Today there are about 140 JCI-accredited hospitals in 26 countries. Hospital director-general Dr. Orna Blondheim said the honor is shared by its "physicians, nurses, administrators, technicians and support staff who, by working together, have proved that EMC is a medical center that cares well for its patients." MUSICAL REVIVAL Will Magen David Adom ambulances and training facilities install the Bee Gees' 1977 disco hit Stayin' Alive as Muzak? The first-aid organization is considering it. Research by Dr. David Matlock of the University of Illinois' College of Medicine in Peoria reports that at 103 beats per minute, the song is the perfect "CPR metronome." He also reported his findings at the American College of Emergency Physicians' meeting in Chicago at the end of October. Matlock's research confirmed that of Dr. Alson Inaba, an emergency room doctor in Honolulu. They both showed that the song and its beat stuck with test subjects performing CPR, yielding heart compression rates within the 100-per-minute range recommended by the American Heart Association. CPR can triple a heart-attack victim's chances of survival, but the proper rhythm is essential, said Matlock. TAKING A BITE OUT OF WRIST PAIN Surgeons at Kaplan Medical Center in Rehovot had never encountered such a case: A man in his 50s arrived complaining about pains and inflammation in his wrist: The cause was a human tooth lodged near the bone. Before taking an X-ray, doctors thought the patient had a bone fracture, or that some foreign object had entered his wrist. "We decided to perform surgery," said Dr. Avraham Hass, head of the hand microsurgery department. "We were shocked to find that the foreign object was a whole, healthy incisor that didn't belong to the patient. It was deep in the base of the hand near the bone. It may have been there for six months. "We have found iron nails, magnets, pieces of wood and thorns in wrists, but never a tooth," he added. The patient was not forthcoming about how another person's tooth had gotten inside his wrist.


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