Ectrodactyly or Split-Hand/Split-Foot Malformation (SHFM) or sometimes called the Lobster-Claw Syndrome or Ectodermal Dysplasia-Clefting Syndrome:- A Rare Congenital Medical Mystery.

Ectrodactyly (SHFM or ECC) is a relatively rare (1/90,000 births) congenital genetic (long arm of chromosome7; 7q22 - Arg304 of p63 gene is most commonly seen defect) birth defect with limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet and aplasia/or hypoplasia of the phalanges, metacarpals and metatarsals.

It can be seen either with hand and/or feet deformities (the middle finger or middle toe is missing - giving them the appearance of a Lobster claw) without any other malformations or as a ECC (Ectodermal Dysplasia-Clefting) Syndrome in which a combination of other anomalies may be seen - including - tibial aplasia, cranio-facial defects, and genitourinary abnormalities. Sometimes sensorineural hearing loss is also seen.

It is a genetic disorder which in the autosomal dominant (gene on chromosome 7) disorder is characterized by (SHFM) Split-Hand/Split-Foot Malformation; urogenital defects; skin, hair, teeth, and nail anomalies; nasolacrymal anomalies and cleft palate with or without cleft lip. Hydronephrosis is not seen prominently in ECC. Inter- and intrafamilial expression in seen to be highly variable. In mildly affected patients, SHFM may be limited to syndactyly and several instances of non-penetrance have been documented. Clinical variability not only exists between patients, but also between limbs of a single individual. There are some case reports of autosomal recessive inheritance.

Currently there are several treatments, which can normalize the appearance of the hands, yet they will not function precisely the same way as regularly formed hands. The prognosis for the non-syndromic Ectrodactyly is very good and that of the ECC syndrome depends on the organs involved and the penetrance level. Some people with ectrodactyly use prosthetic hands to avoid the rude stares of others. Early physical and occupational therapy can help those with ectrodactyly adapt, and learn to write, pick things up, and be fully functional.

Further Reading and References:

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Dr. Harish Malik

Oncotype DX (Breast Cancer Gene test) Marketed by Genomics Health May Result in False negatives for HER2.

According to a study published in the Journal of Clinical Oncology, a widely used breast cancer test (oncotype DX) may not be accurate in identifying the HER2 gene that is critical in determining if the patient recieves Herceptin (trastuzumab) which may be life saving in HER2 positive Breast cancer patients.

According to Dr. Lori J. Goldstein, director of Breast Evaluation Center at Fox Chase cancer Center in Philadelphia, the Oncotype DX test, which actually measures 21 different genes, was not designed to specifically test for HER2 and is not intended as a substitute for two other widely used and accepted lab tests.

The Inform Dual ISH test is manufactured by Ventana Medical Systems of Tucson, Arizona was recently approved by the FDA to test for HER2 gene. It has a 96% sensitivity in identifying HER2-positive tumor samples and 92.3% specificity in ruling out HER2 positivity in tumor samples that had the normal number of copies of the HER2 gene. Patients with more than the normal number of copies of the HER2 gene are considered candidates for trastuzumab therapy, whereas those with the normal number are not.

Further reading and references:

Link1
Link2

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Dr. Harish Malik

Free Online Medical News at Online Health Expert: Embryonic Stem Cell Transplants in Mice Reverse Diabetes.

Getting the embryonic stem cells to develop into beta cells properly (at the right time, in just the right amounts, that secrete insulin) has been challenging.

Recently, scientists have been successful in nudging human embryonic stem cells to become precursors to beta cells. Transplanting these cells into mice has yielded promising results.

Further Reading and References:

Link1
Link2

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Sincerely,

Dr. Harish Malik

Free Online Medical News at Online Health Expert: Human Embryonic Stem Cells Used to Treat Parkinson Disease in Mice, Rats and Rhesus Monkeys.

Astudy published in the journal Nature descibes how scientists were able to differentiate human embryonic stem cells into dopamine-producing neurons and transplant them into lab mice, rats and rhesus mokeys' brains and were able to treat their Parkinson symptoms over a period of months.

If long term experiments which are underway are successful, then human trials may begin in 3-4 years.

Further Reading and References:

Link1
Link2

To read more about stem cells, their origin and current applications and clinical trials please click on the link below:

Stem Cells


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Sincerely,

Dr. Harish Malik

Free Online Medical News at Online Health Expert: Embryonic Signal (Stem cell) Drives Pancreatic Cancer and Will Offer a Way to Kill It.

Pancreatic cancer that took away Apple's CEO Mr. Steve Jobs (Mr. Steven Paul Jobs) is a particularly difficult cancer to beat. It’s been shown to harbor Stem Cells that utilize the embryonic pathway (Nodal/Activin Pathway) that is absent in the adult cells.

This pathway's embryonic ties and their absence in other tissues have presented a real opportunity to kill pancreatic cancer cells. It suggests that one could target the molecular pathway without harming other adult cells. Heeschen's team has already shown that this approach to therapy does work in mice.

"I don't think the cancer stem cells have any direct link to embryonic development, rather they are using this developmental pathway for their uncontrolled self-renewal capacity”, said Christopher Heeschen of the Spanish National Cancer Research Centre in Madrid. 

This approach to treat Pancreatic cancer is being developed for human use and there are hints that this pathway might have important role in other forms of cancer such as Breast, Lung and Colorectal cancers.

"The concept that you can hit cancer stem cells and tumors will melt away must be abandoned”, Heeschen said. "You have to treat the entire cancer - the stroma, cancer stem cells and differentiated cells - as a complex". 

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Sincerely, 

Dr. Harish Malik

Free Online Medical News at Online Health Expert: Skin's Melanocytes "see" (via Rhodopsin - previously only thought to exist in the eyes) Sun's UVA Light and Start Making Melanin Within Hours to Prevent Skin Damage.

Online Health Expert Medical News Flash: Scientists are learning more about how the skin cells respond to and protect themselves against the Sun's UV (Ultraviolet) radiation. This will shed more light on the prevention of and management of Skin cancer in the future. In a recent study done by Elena Oancea, Assistant Professor of Biology in the Department of Molecular Pharmacology, Physiology, and Biotechnology at Brown University, graduate student Nadine Wicks, and their team and published in the journal Current Biology discovered that the melanocytes (cells that make and store melanin) contain rhodopsin protein, a photosensitive receptor used by the eye’s Rods in the Retina to “see” or detect light and the RNA to transcribe it. As soon as the Skin’s melanocytes “see” the UVA (Ultraviolet A – longer wavelength and less damaging) it triggers a calcium signaling response that stimulates melanin production, which is known to protect the Skin cells’ DNA from damage due mainly to the UVB (shorter wavelength and more damaging) long before the effects of tanning are noticeable.

It is quite fascinating to learn that our skin has eyes to protect itself against the damaging effects of UV radiation.

Further reading and References:

Link1

Link2

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Sincerely, 

Dr. Harish Malik

Does HIV Infection and AIDS Result in an Increased Risk of Cancer?

The answer to this question is Yes. The people with HIV (Human Immunodeficiency Virus) infection have been seen to develop more cancers compared to those uninfected. In fact, according to NCI (National Cancer Institute), people infected with HIV have a substantially higher risk of developing some types of cancer compared to uninfected people of same age. The three AIDS defining cancers (Diagnosis of any of these 3 cancers marks the point at which HIV infection has progressed to AIDS) include  Kaposi sarcoma, Non-Hodgkin's Lymphoma and Cervical cancer.

Compared to uninfected individuals, HIV positive individuals are:

• several thousand times more likely to be diagnosed with Kaposi sarcoma,
• at least 70 times more likely to be diagnosed with Non-Hodgkin's Lymphoma,
• and among women, at least 5 times more likely to be diagnosed with Cervical cancer.

HIV infected people are also at increased risk of the following cancers in comparison to the uninfected people:

• Anal cancer (25 times more likely to be diagnosed),
• Liver cancer (5 times more likely to be diagnosed),
• Lung cancer (3 times more likely to be diagnosed),
• Hodgkin Lymphoma (at least 10 times more likely to be diagnosed)

HIV infected individuals do NOT have an increased risk of the following cancers: (Screening for the following cancers should follow the same guidelines as the ones for general population)

• Breast cancer,
• Colorectal cancer,
• Prostate cancer,
• and many other common cancers.

The reason for this increased risk is due to the weakened immune system that leads to reduced ability of the HIV infected person's body to fight infections that may lead to cancer.

• HHV-8 (Human Herpes Virus type 8) also known as KSAH (Kaposi Sarcoma Associated Herpesvirus) is the causative agent for Kaposi Sarcoma.
• EBV (Epstein Barr Virus) causes Non-Hodgkin's Lymphoma and Hodgkin's Lymphoma.
• HPV (Human Papilloma Virus) causes cervical cancer, anal, penile, vulvar, vaginal, and head and neck cancers.
• HBV (Hepatitis B Virus) and HCV (Hepatitis C Virus) are both known causes for liver cancer.

Another reason is that many HIV positive persons are also infected with these other viruses (mentioned above) that may cause cancer.

Lastly, HIV positive individuals are more prone to harbor some of the traditional risk factors of cancer like smoking (associated with lung, oral, laryngeal, esophageal, stomach, pancreatic, colorectal, kidney, bladder, and other urinary cancers, cervical cancer, and poorer AML outcomes) and heavy alcohol use (liver cancer, breast cancer, oral, pharyngeal, laryngeal, esophageal cancer).

HAART (Highly Active Anti-Retroviral Therapy) has been able to decrease the incidence of Kaposi sarcoma and NHL in HIV positive individuals. Cervical cancer incidence has not reduced. The incidence of Anal cancer and Hodgkin Lymphoma is on the rise since the induction of HAART. The use of HAART in the treatment of HIV positive individuals has led to more of these patients living past their 40s and they are increasingly being diagnosed with the other non AIDS related cancers but not at earlier ages than the general population as discussed earlier.

Taking HAART as prescribed, quitting smoking and alcohol, managing Hepatitis B and C, screening for Cervical and Anal cancer with a PAP test are some recommendations to prevent, screen for and manage the above discussed cancers in HIV positive and AIDS patients.

Further reading and References:

Link1 (NCI at NIH)
Link2 (CDC study)

Thank you for updating your medical knowledge at Online Health Expert.
Sincerely,
Dr. Harish Malik