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Cavernous Angiomas: Screening Of A Family Over Three Generations

Cavernous angiomas belong to a group of intracranial vascular malformations that are developmental malformations of the vascular bed. These congenital abnormal vascular connections frequently enlarge over time. The lesions can occur on a familial basis. Patients may be asymptomatic, although they often present with headaches, seizures, or small parenchymal hemorrhages.

In most patients, cavernous angiomas are solitary and asymptomatic. In recent times, increasing MRI has detected several such asymptomatic cases and has prompted a study into the genetics and natural history of this condition.

It is now known that cavernous angiomas have a genetic basis. Familial forms of cavernous angiomas are associated with a set of genes called CCM genes (cerebral cavernous angioma). This is a case report describing the phenotypic expression of a familial form of cavernous angioma.


A 54-year-old man was referred for an MRI of the brain with complaints of headache and seizures. A cranial CT scan revealed few hyperdense lesions. A subsequent cranial MRI scan revealed several lesions with features representing cavernous angiomas.

The patient was offered counseling and was treated conservatively. Genetic testing was not possible due to the high prohibitive cost. However, screening of the family members by MRI was recommended.

Cranial MRI of the immediate family members was performed. Four brothers of the patient and his mother were found to have multiple cavernous angiomas. The father, youngest brother, and his younger sister were found not to have any such lesion. Both children of the patient were also found to be free of these lesions. Incidentally, a meningioma was found in the father of the patient. Read more »

*This blog post was originally published at AJNR Blog*

The Importance Of Diagnosing Birth Defects

Birth defects, particularly those of the blood vessels, account for the majority of infant deaths, especially after the first week of life. Congenital heart disease (CHD) — meaning defects of the heart – is responsible for one-third of deaths between birth and the first year of life. Therefore, the diagnosis of CHD is critical in order to plan life-saving treatments, such as the proper place for the delivery, the type of delivery, and its timing. If it’s known in advance that an unborn baby has a heart problem and is delivered in a hospital that provides special care, its survival and future health will increase dramatically.

Who’s at risk for having CHD and which expectant moms should have further evaluation? Families who have a history of CHD — especially mothers, fathers, and siblings — should receive genetic counseling. Multiple medical studies over the past fifteen years have demonstrated the significance of genetics as a main culprit of CHD. Parents of a child with CHD have a two percent to three percent chance of having another affected child. If a mother or father has CHD, a fetal cardiac echo (an ultrasound of the heart) is definitely warranted.

Because the treatment of CHD in many cases is surgical, there’s an increasing number of patients who have survived into adulthood and have ultimately become parents. Research has documented that 4.1 percent of their children will have CHD. Children with mothers who have CHD are at a greater risk of inheriting the disease than if they have fathers with CHD. Mothers with cyanotic heart disease — that is, blood that is without oxygen that bypasses the lungs and goes directly to the blood vessels — also have a greater risk of having a baby with CHD. Read more »

*This blog post was originally published at Dr. Linda Burke-Galloway*

Consider Medical Conditions Before Jumping On The New Year’s Resolution Diet-And-Exercise Bandwagon

The first week of January was full of news reports of giving advice on your new diet and exercise program to help you lose the weight you’ve always wanted to. In a previous post and video I talk about some do’s and don’ts when planning for your weight loss New Year’s resolution.

In the video below, I talk about some medical issues to keep in mind before starting your program. For example, do you have a family history of medical problems like high blood pressure or diabetes? If so, you may want to schedule an appointment with your personal physician before jumping on the diet and exercise bandwagon.

If you find this video helpful, I invite you to check out other TV interviews at MikeSevilla.TV. Enjoy!

*This blog post was originally published at Doctor Anonymous*

Talk To Patients Before Running Tests

The Associated Press ran a provocatively-titled piece recently, “Family health history: ‘best kept secret’ in care”, which noted how a geneticist at the Cleveland Clinic discovered that asking about family members and their history of breast, colon, or prostate cancer was better than simply doing genetic blood testing.

Surprising? Hardly. This is what all medical students are taught. Talk to the patient. Get a detailed history and physical. Lab work and imaging studies are merely tools that can help support or refute a diagnosis. They provide a piece of the puzzle, but always must be considered in the full context of a patient. They alone do not provide the truth. Read more »

*This blog post was originally published at Saving Money and Surviving the Healthcare Crisis*

Dr. Oz’s First Colonoscopy Finds Pre-Cancerous Polyp: What Can This Teach Us?

Dr. LaPook and Dr. OzDr. Mehmet Oz just might be the last person on earth people would expect to get a colon polyp. He’s physically fit (he left me in the dust the last time we ran together), he eats a healthy diet, he doesn’t smoke, and he has no family history of colorectal cancer or colon polyps.

But several weeks ago, when Mehmet had his first screening colonoscopy at age 50, I removed a small adenomatous polyp that had the potential to turn into cancer over time. Statistically, most small polyps like his don’t become cancer. But almost all colon cancers begin as benign polyps that gradually become malignant over about 10 to 15 years.

Since there’s no way of knowing which polyps will turn bad, we take them all out. The good news is there’s plenty of opportunity to prevent cancer by removing these polyps while they are still benign. But only about 63 percent of Americans between ages 50 and 75 get screened for colorectal cancer. Read more »

Latest Interviews

IDEA Labs: Medical Students Take The Lead In Healthcare Innovation

It’s no secret that doctors are disappointed with the way that the U.S. healthcare system is evolving. Most feel helpless about improving their work conditions or solving technical problems in patient care. Fortunately one young medical student was undeterred by the mountain of disappointment carried by his senior clinician mentors…

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How To Be A Successful Patient: Young Doctors Offer Some Advice

I am proud to be a part of the American Resident Project an initiative that promotes the writing of medical students residents and new physicians as they explore ideas for transforming American health care delivery. I recently had the opportunity to interview three of the writing fellows about how to…

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Latest Book Reviews

Book Review: Is Empathy Learned By Faking It Till It’s Real?

I m often asked to do book reviews on my blog and I rarely agree to them. This is because it takes me a long time to read a book and then if I don t enjoy it I figure the author would rather me remain silent than publish my…

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The Spirit Of The Place: Samuel Shem’s New Book May Depress You

When I was in medical school I read Samuel Shem s House Of God as a right of passage. At the time I found it to be a cynical yet eerily accurate portrayal of the underbelly of academic medicine. I gained comfort from its gallows humor and it made me…

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Eat To Save Your Life: Another Half-True Diet Book

I am hesitant to review diet books because they are so often a tangled mess of fact and fiction. Teasing out their truth from falsehood is about as exhausting as delousing a long-haired elementary school student. However after being approached by the authors’ PR agency with the promise of a…

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