Fetal Alcohol Syndrome is preventable

Published by: Daily News
Written by: Kevin Green

FASD (Fetal Alcohol Syndrome Disorder) is a condition that results from alcohol exposure during the mother’s pregnancy. FASD causes brain damage and growth problems. The problems vary from child to child, but defects are not reversible.

The fetus can be affected regardless of the amount or frequency of alcohol consumed by the mother. Each year 630,000 babies with FASD are born globally. The average life expectancy of people with FASD is 34 years of age, with extreme causes accounting for 44% of all deaths. Not only will alcohol lead to various physical defects including brain malformation, but mental issues and neurological problems. FASD is 100% preventable.

Disabilities can vary from abnormal appearance, shorter height, hyperactivity, learning disabilities, poor judgment skills, vision and hearing problems, and problems with the heart, kidneys, and bones.

Distinctive facial features include small eyes, an exceptionally small upper lip, a short upturned nose, and a smooth skin surface between the nose and upper lip.

Drinking alcohol during pregnancy allows alcohol to enter the bloodstream and reaches the developing fetus by crossing the placenta. Alcohol causes higher blood alcohol concentrations in your developing baby than in the mother’s body because the fetus metabolizes the alcohol slower than an adult does. Alcohol interferes with the delivery of oxygen and optimum nutrition to your developing baby.

Exposure to alcohol before birth can harm the development of tissues and organs, causing permanent brain damage in your baby. Click here to read the rest of the story

HOW TO USE AN EARLY WARNING SYSTEM FOR SEPSIS IN THE EMERGENCY DEPARTMENT

Published by: Health Leaders
Written by: Christopher Cheney

A sepsis early warning system at a Cleveland-based health system triggered an alert in the electronic health record and a notification message to emergency department pharmacists.

An early warning system for sepsis embedded in an electronic health record (EHR) can have a significant impact on sepsis care, according to a recent research article.

Sepsis is a life-threatening condition caused by the body’s extreme reaction to an infection. Annually, at least 1.7 million American adults develop sepsis and about 270,000 Americans die due to sepsis, according to the Centers for Disease Control and Prevention.

The recent research article, which was published by Critical Care Medicine, describes the results of a randomized, controlled quality improvement initiative conducted at The MetroHealth System in Cleveland. The article features data collected from 598 patients, with 285 patients in the intervention group and 313 in the standard care group.

The intervention involved using a sepsis early warning system embedded in the health system’s EHR. The early warning system is based on structured EHR variables used to predict whether a patient will develop sepsis during their hospitalization. The variables include demographic data, Click here to read the rest of the article

Sickle Cell Disease Getting the Support it Needs.

Published by: Chicago Defender
Written by: Shera Strange

Sickle Cell Disease or Sickle Cell Anemia is not talked about as much as it was in the 60s, 70s, and 80s, however, the disease was discovered in America in 1910, over 110 years ago.  Sickle Cell Anemia is an inherited red blood cell disorder where there are not enough healthy red blood cells to carry oxygen throughout the body. The round red cells usually are flexible and can quickly move through the blood vessels. Sickle Cell Disease (SCD) can affect individuals of any ethnicity or race but is more common in African Americans in the U.S. compared to other ethnicities-occurring in approximately 1 in 364 African Americans.

In early Sickle Cell Disease awareness campaigns, The Black Panther Party took up the fight for health and opened free health clinics across the country. In addition, the Black Panther Party recognized that Sickle Cell Anemia was a neglected genetic disease because most of those affected were Black. The party set up a national screening program by running a rapid sickle cell screening program on a simple finger stick.

Access to high-quality health care is a significant challenge in the Sickle Cell Disease community, exacerbated by the impact of COVID-19 and longstanding healthcare disparities.

A local organization received a grant to support those in Chicago’s underserved communities with Sickle Cell Disease. The Sick Cells organization was named a distinguished grantee of the Global Blood Therapeutics (GBT) 2021 Access to Excellent Care for Sickle Cell Patients (ACCEL) Grant Program. Global Blood Therapeutics is a biotech company dedicated to discovering, developing, and delivering life-changing treatments for people living with dire blood disorders, such as Sickle Cell Disease. Established in 2019, the ACCEL Grant Program supports community-based organizations and institutions in accelerating the development of sustainable access-to-care programs. In 2020, the grants focused on the transition of care from pediatrics to adult purpose care. As a result, individuals with Sickle Cell Disease did not have the opportunity to connect with a program in the adult setting the same way they have in the pediatrics setting. Click here to read the rest of the story

WHAT IS CDKL5 DEFICIENCY DISORDER?

Published by: International Foundation for CDKL5 Research

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:40,000 -75,000 live births, making it one of the most common forms of genetic epilepsy.

The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

CDKL5 was first identified in 2004, it stands for cyclin-dependent kinase-like 5, and its location is on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s, and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene, which describes what it does. The CDKL5 gene was previously called STK9. Many cases have been identified in boys, but because of the location of the gene, CDD mainly affects girls.


We do not fully know the cause of CDKL5 deficiency disorder at this time. Mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, cerebral palsy, autism, and intractable epilepsy of unknown origin.

Through scientific research and collecting information through the CDKL5 International Database and at our Centers of Excellence, we are working hard to find all of the pieces of this puzzle. It is important to note that scientists and doctors do not know the full spectrum of CDKL5 disorders at this time. There are likely many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder as we continue the search for a desperately needed cure. Click here to read the rest of the story.

Mom bringing awareness to daughter’s rare condition

Published by: Kuam News
Written by: Isaiah Aguon

Cri du Chat is also known as 5P-  occurs when there is a loss of genetic material on the short arm of the fifth chromosome. Its main characteristic is the kitten-like cry or soft cry that is due to an underdeveloped larynx.

May 5 was Cri du Chat Awareness Day.  Forty-one-year-old Jamielanie Guerrero Salas is a Dededo resident and is a mother to two beautiful daughters. Her youngest daughter, Savana Jo, was diagnosed with Cri du Chat at birth.

“When I delivered with Savana Jo I had to have an emergency c- section and with that after Savana Jo was finally delivered it was her high-pitched cry that alarmed,” she shared. “Dr. Santos and from there they had her tested for her chromosomes or her genetics and from there it was sent off to Honolulu confirmed that she did have Cri du Chat which is the deletion of the short arm 5p chromosome.” Click here to read the rest of the story.