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AnnaLou’s Story—Written by Her Mother, Elena
“SCID has changed the way my family views life.”
AnnaLou was diagnosed with severe combined immunodeficiency (SCID) through a newborn screening pilot program in California in 2010. Had it not been for that pilot screening, I would have never known until she had gotten sick how fatal this disease is. SCID became my life the second I found out. Her pediatrician told me she'd undergo a bone morrow transplant and have to receive treatments to maintain her health. At 2 months, she received bone marrow from me. I spent most of my time with her in the hospital, away from home during the holidays. Once she got sent home, she was in isolation.
I learned a lot while being in the hospital including flushing her line, giving her proper baths, and making a chart for all her medicines at exact times. Later I learned how to give her the shots and that was not hard to do after a while. Every 3 weeks we would go to get her treatment, and it wasn't easy. Between money for gas and food and my not having a job, it was a strain on my family, but like all the great things I've been blessed with, one of them is my family. Finally, after 2 surgeries, a bone morrow transplant, 2 blood transfusions, 8 weeks in a hospital, 6 months of treatment and being on isolation at home, I got the phone call we'd been waiting for. AnnaLou's SCID was cured at 8 months. She no longer had to be on isolation or receive treatment. At age 1, she started getting her first set of vaccines, and now, at 21 months, she is on schedule. Walking and running everywhere, she knows her ABC's, her name, and has 10 teeth. Since then, I've finished school and now have a great job at an allergy center as an immune therapy injectionist. If it wasn't for what she went through, I wouldn't have been so interested in getting an education into the medical field, but now that she is well and learning, I feel that things ended up the way they were meant to. Thank you for reading her story. SCID has changed the way my family views life, and I hope it makes you aware of the rare diseases out there.
Learn more about newborn screening:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
www.cdc.gov/features/ScreeningNewborns/
www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
www.cdc.gov/ncbddd/hearingloss/index.html
www.cdc.gov/features/sicklecelldisease/
Cora’s Story—Written by Her Mother, Kristine
“We later learned about a type of screening―pulse oximetry―that might have helped identify Cora’s heart defect before it was too late.”
After a healthy and normal pregnancy, I gave birth to my daughter, Cora, on November 30, 2009. Two days later we took her home, after getting a clean bill of health at the hospital. The next 3 days were spent cuddling, getting to know each other, and waking every few hours to feed her.
One early morning my husband handed Cora over to me because she seemed hungry. I started to feed her and everything was going great. I looked up at my husband to tell him I loved him. When I looked back down, Cora was pale, grey, and not breathing. We raced to the hospital, which was no more than 5 minutes away, but it was too late. Cora was gone. We learned from the coroner that she had an undetected congenital heart defect. Neither of us had ever even heard the term.
We later learned about a type of screening―pulse oximetry―that might have helped identify Cora’s heart defect before it was too late. While we’ll never know for sure if it would have made a difference for Cora, we sure wish she’d had the simple screening. Cora’s story is extremely sad, but it’s also full of hope. In Indiana, where we live, a new law requiring newborn heart screening with pulse oximetry is named after her and is known as Cora’s Law.
As for now, I hope for a day when no mother finds out about her child’s heart defect from a coroner. I hope that undetected congenital heart disease becomes a thing of the past. And, ultimately, I hope that one day congenital heart disease can be prevented and that no baby is born with a broken heart.
Learn more about newborn screening:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
www.cdc.gov/features/ScreeningNewborns/
www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
www.cdc.gov/ncbddd/hearingloss/index.html
www.cdc.gov/features/sicklecelldisease/
Robert F. Vogt, Jr., Ph.D.
Research Chemist
Centers for Disease Control and Prevention
Working at CDC has provided a great opportunity for me and my lab colleagues to contribute to one of the most exciting new developments in public health: the detection of SCID (severe combined immunodeficiency) by newborn bloodspot screening. SCID is a failure of the immune system that results in severe infections, often leading to infant death. Live vaccines are especially bad for infants with SCID. Fortunately, newborn babies with SCID can be treated effectively by bone marrow transplant if the transplant is done within a few weeks of birth. Now we have a test that can detect SCID in newborns from a heelstick blood drop dried on a paper card.
The ability to detect and treat SCID has a very personal meaning for me, because it came from years of medical research that occurred largely over my lifetime. I was born just before DNA was found to contain the genetic code, which led to the era of modern biology. About the same time, the first genetic immune deficiency was reported by a pediatrician at Walter Reed. Similar reports followed, and much of our understanding of how the immune system works came from children with SCID and other types of immune deficiencies. These children suffered, and many died, but the lessons we learned from them culminated in our ability to detect and treat SCID before babies get sick. Since the idea of newborn bloodspot screening for SCID was first proposed, our CDC laboratory worked with state public health laboratories, universities, and foundations to make it a reality. Today we provide the tools and training that help screening laboratories set up the test and make sure it keeps working, so that every baby with SCID can be found and treated.
Learn more about newborn screening:
www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
www.cdc.gov/ncbddd/hearingloss/index.html
Joanne Mei
Lead Research Chemist, Newborn Screening Quality Assurance Program
Centers for Disease Control and Prevention
I work in the newborn screening quality assurance program. We help state newborn screening laboratories make sure that their newborn screening tests are of the highest quality. We prepare blood samples that look like newborn baby samples for more than 50 disorders. We send those samples to state public health labs to test. The state labs do not know which disorders are supposed to be detected. The labs test each sample and send us their results. If they miss a sample, we help them figure out why. Because of this testing, doctors and families can be assured that the labs are providing accurate results.
Working on newborn screening is challenging because we are looking for a few affected babies among most who are healthy. Newborn screening casts a wide net in order to find those few babies. If a baby has a positive result, retesting is important to find out if the baby does have the condition. If so, it’s important for parents to know quickly so the baby can be treated early.
When I had my daughter, I was working in newborn screening. I had to explain newborn screening to my OB-GYN! There was no information at my doctor’s office. I had to ask the pediatrician about my daughter’s newborn screening results. I think most parents only find out about their child’s results if there’s a problem.
I feel it’s important for pregnant women to talk to their doctor about newborn screening so that they know that the tests will be done, and they can ask for the results.
Learn more about newborn screening:
www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
Suzanne Cordovado
Team Lead, Molecular Quality Improvement Program
Centers for Disease Control and Prevention
When I first started at CDC, I worked on diabetes. My brother has type 1 diabetes, and because of the family connection, I didn’t think I would find a subject for which I had a greater passion. I was wrong!
Newborn screening touches lives in ways that you cannot even imagine. Research can sometimes be esoteric, but newborn screening has a direct impact and translates into saving babies’ lives. It’s a tremendous gift you can give your baby. As a parent, you want to do anything you can to give your child a healthy start, and newborn screening is the easiest way you can do that. For some disorders, a change in what your baby eats can mean the difference between life and death.
Our lab works on enhancing the quality of molecular newborn screening tests, such as those for cystic fibrosis. We provide materials and help develop tests to assist state public health labs make sure their molecular newborn screening tests are accurate. We also provide training on molecular testing for state lab workers.
I have had the privilege of working with several state public health lab workers, and they are some of the most dedicated people I have ever met. I have seen them cheer when they identify a baby with a newborn screening condition and have tears in their eyes when a treatment doesn’t work. Every baby’s blood samples are treated with the utmost care. I hold these lab workers in the highest esteem.
I was not working on newborn screening when my two sons were born. Still, I probably knew more about newborn screening than most parents since I was in the same division as the newborn screening group. My pediatrician didn’t mention my older son’s test results, and I had to ask for them for my younger son. If I had a child today, I would want to watch my baby being screened.
In the future, as we understand the human genome better, we will understand more about how mutations lead to diseases, which may provide more targeted screening and treatment. For example, a new drug for cystic fibrosis that was just approved only works for those with a specific DNA mutation. If this treatment becomes available for babies, babies with the specific DNA mutation could be identified through screening and could start this treatment right away.
Learn more about newborn screening:
www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
Winnie Chung
Audiologist
Centers for Disease Control and Prevention
For many years I worked as an audiologist with all ages in a hospital setting. In 2004, I began to focus exclusively on newborns when I joined the state of Rhode Island's Early Hearing Detection and Intervention (EHDI) team. I made sure that hearing screening was done in the hospitals, that diagnosis and intervention happened, and that the state received data on every newborn. In 2009, I joined CDC where I provide support to all states.
What interests me most about newborn screening is the entire process, starting with an unknown through following up when the child has potential hearing loss. Most audiologists do not see this entire process. They see patients who are already known to have a hearing problem. With newborn screening, you have engagement with the newborn through the entire process from beginning to end.
It is important to find out whether babies have hearing loss and to provide interventions which allow them to learn language. There is a narrow window for learning spoken language and using it, which is between birth and early childhood. Beyond a certain age, learning to speak and understand spoken language becomes very difficult and will require more support. EHDI facilitates early identification of hard of hearing newborns and provides support for the family so they don't lose precious time.
What I find challenging is keeping up with the super-fast technological advances and new research findings. If I don't review research articles for even one month, I feel like a Stone Age audiologist! For example, Auditory Neuropathy Spectrum Disorder is a condition that we are only recently able to tell apart from other types of hearing loss. There are constant new research findings on how best to diagnose and manage this disorder.
I would like parents to know that if you deliver your baby in a hospital, be assured your baby will receive a hearing screen before discharge. If your baby does not pass the hearing screen be sure to get a second screen or a hearing test as soon as you can.
Remember 1-3-6. Your baby needs to have the hearing screen no later than 1 month of age. If your baby does not pass the hearing screen, he or she needs to have a hearing test no later than 3 months of age to confirm whether he or she has hearing loss. If your baby has hearing loss, intervention should start no later than 6 months of age. Your state EHDI program will support you every step of the way.
I hope for a day when all hearing impaired children will have zero academic delay because everyone knows what EHDI is and they get help and support each step of the way.
Learn more about newborn screening:
www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
Matt Oster
Guest Researcher at CDC
Pediatric Cardiologist at Sibley Heart Center, Children's Healthcare of Atlanta Emory University
Photo above: Matt Oster’s father, Don Oster, Jr., holding his younger sister, Lynda Jean.
When I started medical school more than a decade ago, I wasn’t sure what kind of doctor I wanted to be. Then I had my class in cardiology, and I was hooked. I knew that I wanted to work with kids and their heart problems for my career.
But then I thought, do kids really have heart problems? I never knew any child with a heart problem. Would there be enough opportunities for me to pursue this as a career? Nevertheless, it was what I wanted to do. When I went home for Christmas that year, I was excited to tell my family that I finally knew what kind of doctor I wanted to be. When I told my family that I envisioned myself as a pediatric cardiologist, my grandmother told me, “You know, your Aunt Lynda Jean was born with a heart problem.” My Aunt Lynda Jean? My Dad had four brothers and one sister, and her name wasn’t Lynda Jean. “Yes,” she said, “she had a hole in her heart and her arteries were switched.” My grandmother just described the defect known as transposition of the great arteries. I later learned that Aunt Lynda Jean was born in 1960 with a congenital heart defect. She was diagnosed with the condition at just a few months of age, and she only lived to be about 10 months old. In the era in which she was born, there were no options for treatment. Were she born today, she would have surgery as a newborn and then be expected to live to adulthood.
Congenital heart defects are the most common type of birth defect. Thanks to the work of CDC and others, we know that nearly 1% of children born in the United States will have a congenital heart defect. In fact, there are nearly 40,000 children born in the United States with congenital heart defects each year. Of those nearly 40,000 children, well over 1,000 will not live to see their first birthday, making congenital heart defects an important cause of infant mortality.
While we have made great strides in treatment for these children, all the treatment in the world might not be sufficient if we don’t diagnose the problem early enough. Moreover, even for those children who survive with congenital heart defects, long term disability remain an important concern. Newborn screening gives us the opportunity to make a significant impact. Newborn screening for critical congenital heart defects (CCHD) can identify some infants with a CCHD before they show signs of disease. Once identified, babies with a CCHD can be seen by cardiologists and can receive specialized care and treatment that can prevent disability and death early in life. However, it’s important to remember that while newborn screening for CCHD will detect some children and save lives, some will still be missed. It’s not a perfect test. Doctors need to remember that, if they see a newborn in their office whose signs and symptoms would have made them worry about a heart defect in the era before CCHD screening, then they should still consider that possibility.
Learn more about newborn screening:
www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
Victor R. De Jesus, PhD Team Lead
Biochemical Mass Spectrometry Laboratory
Centers for Disease Control and Prevention
I find my work extremely rewarding because I know the vast majority of babies that have newborn screening conditions are identified early because of what we do. Our work is important because we are the only program in the world whose sole focus is on helping laboratories identify affected babies and make sure these babies are not missed, using the best science possible. To do this, we create testing samples for different newborn screening conditions.
One of the challenges in my work is anticipating and preparing for the next disorder that will be included in newborn screening. For example, I worked on developing testing samples for a group of newborn screening conditions called lysosomal storage diseases. In these diseases, babies do not have enough of a type of enzyme used to break down unwanted materials in the body. Before this, we made most testing samples by adding extra ingredients. For the lysosomal storage diseases, we had to make testing samples that were missing the enzymes. This required new techniques, which took about a year and half to develop. Now we’re using those techniques to provide the test samples labs use to make sure the way they test for these diseases provides correct results.
I think that parents should know about the benefits of newborn screening and not be afraid of their baby being tested. Through newborn screening, families receive a clear benefit, in both the short and long term. Affected babies have a better chance at a healthy life. Not knowing about a newborn screening condition can lead to death or severe disabilities or developmental delays. This five-minute test can make the difference between life and death.
Learn more about newborn screening:
www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
People sleeping with their eyes open can result in corneal irritation due to lagophthalmos. This media is part of the People Sleeping with Their Eyes Open article. The picture was found on Thyroid Manager website.
Jana Monaco has been an advocate for the rare disease community since her son Stephen suffered severe brain damage at age 3 because of undiagnosed isovaleric acidemia (IVA). IVA is a metabolic disorder that can lead to episodes of illness called metabolic crisis, which may be avoided by restricting protein in the diet and the use of medical foods. Jana’s daughter Caroline was diagnosed before birth, thus avoiding a metabolic crisis by proper medical management. Like many rare disease patients and their families, through her experiences Jana has become a champion for rare disease issues such as newborn screening, medical foods insurance coverage, and neurodevelopmental disabilities awareness.
For more information visit www.fda.gov/orphan.
Zachary’s Story—Written by His Mother, Jennifer
“Blood tested at birth could possibly have saved my first son.”
Our first son, Ryan, was born in 1999. At 6 months old, he started getting sick and could not get over things. After about 10 months of being ill, taking medication after medication, having procedure after procedure, and seeing specialist after specialist, my son’s heart stopped, and he went on full life support. The doctors did not think he would get off life support, but he did. He was one day away from coming home when they found out he had pneumonia. Within 2 weeks, he was back on a ventilator. About a week and half after being on the ventilator, even the machines could not keep his oxygen levels up and we had to decide to let our sweet little boy go. An autopsy confirmed that he had SCID (severe combined immunodeficiency), better known as the bubble boy disease.
In 2003, our second son, Zachary, was born. We tested the cord blood and within 10 hours of his birth, we were told that he, too, had SCID. Zachary received a bone marrow transplant at 3 weeks old, 7 months old, and 22 months old. At approximately 27 months old, we got a good report that Zachary’s cells were functioning. Zachary had to be hospitalized for pneumonia at 4 years old, but recovered and has not been admitted for a hospital stay since. He will be 10 years old this year. Blood tested at birth could possibly have saved my first son, Ryan. He would have been 14 this year. Testing the cord blood at birth and transplanting as quickly as possible saved my second son, Zachary.
Learn more about newborn screening:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
www.cdc.gov/features/ScreeningNewborns/
www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
www.cdc.gov/ncbddd/hearingloss/index.html
www.cdc.gov/features/sicklecelldisease/
John’s Story—Written by His Mother, Carrie
“The very different outcomes my family experienced clearly show why newborn screening for SCID is so important.”
My nephew, Will, seemed so healthy at birth, and my sister and brother-in-law were so excited to be starting their family. When Will was around 3 months of age, he began to develop different infections, and my sister was always taking him to the pediatrician. At one point she asked the doctor if there was something wrong with Will because he always seemed to be sick. The doctor assured her there was nothing wrong with Will and said he was just developing “normal” childhood infections. Four days before Christmas in 1994, when Will was 13 months old, he came down with the chicken pox and became very ill. Again, my sister’s pediatrician said not to worry and that he had seen worse cases of chicken pox. On Christmas morning, my sister checked on Will and found that he had died in his sleep. Our family was devastated by his death. Through autopsy reports, we learned that Will was born with a disease called severe combined immunodeficiency (SCID), which meant he was born without a working immune system.
When I became pregnant in 2000, I learned I was a carrier for SCID and had passed this disease on to my unborn son. We were so worried but hopeful, because we knew that newborns diagnosed with SCID who undergo a bone marrow transplant shortly after birth have a 95% cure rate. My son, John, was tested for SCID right after birth through a simple blood test. John received his bone marrow transplant and three months later, had a normally functioning immune system. He is now a very healthy, happy 11 year-old boy.
The very different outcomes my family experienced clearly show why newborn screening for SCID is so important. John had a chance at life because we knew to look for SCID. SCID is a universally fatal disease if left untreated. For families without a family health history of SCID, screening at birth is needed, before babies are exposed to life-threatening infections.
Learn more about newborn screening:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
www.cdc.gov/features/ScreeningNewborns/
www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/
www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
www.cdc.gov/labstandards/nsqap.html
www.cdc.gov/ncbddd/hearingloss/index.html
www.cdc.gov/features/sicklecelldisease/
tombstone on my daughters grave.
The winter brought sad shadows, time was too much with me and I cried. But somehow memories of Frank and Kara Frances then warmed my heart, as if 17 years of busywork kept me from my beloveds. I do recall the way Kara walked with a little limp, this sounds on the boards of my house.
A disease affecting a person due to their lifestyle pattern is termed as a lifestyle disorder. These type of disease range from moderate to grave in intensity.
Know more information about the Life style disorder or diseases, Please click here: www.redheal.com/blog/diabetics/lifestyle-disorders-or-dis...
Global Journal of Diabetes, Endocrinology & Metabolic Disorders
publishing innovative research in diabetes, endocrinology, and metabolic disorders. Share your valuable work with a global audience and contribute to advancements in healthcare.
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Diabetes is a condition where your body has trouble regulating blood sugar, either due to insufficient insulin production or ineffective insulin use.
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Global Journal of Diabetes, Endocrinology & Metabolic Disorders
publishing innovative research in diabetes, endocrinology, and metabolic disorders. Share your valuable work with a global audience and contribute to advancements in healthcare.
Submit your manuscript today:
ucjournals.com/submit-manuscript/
Journal details:
ucjournals.com/global-journal-of-diabetes-endocrinology-m...
WhatsApp: wa.me/+971551792927
#DiabetesResearch #Endocrinology #MetabolicDisorders #MedicalResearch #DiabetesCare #EndocrineHealth #DiabetesPrevention #ClinicalResearch #HealthScience #DiabetesAwareness #GlobalHealth #MedicalJournals #ResearchPublication #DiabetesEducation #DiabetesTreatment
Global Journal of Diabetes, Endocrinology & Metabolic Disorders (GJDEMD) is an international, peer-reviewed platform dedicated to advancing research and clinical knowledge in diabetes, endocrinology, and metabolic disorders.
We invite researchers, academicians, and healthcare professionals to publish original research, reviews, and case reports with us.
Submit your manuscript:
ucjournals.com/submit-manuscript/
Learn more about the journal:
ucjournals.com/global-journal-of-diabetes-endocrinology-m...
For inquiries, contact us on WhatsApp:
#UCJournals #GlobalJournal #DiabetesResearch #Endocrinology #MetabolicDisorders #ResearchPublication #MedicalJournals #OpenAccessJournals #CallForPapers #ClinicalResearch #HealthcareResearch
Global Journal of Diabetes, Endocrinology & Metabolic Disorders (GJDEMD) is an international, peer-reviewed platform dedicated to advancing research and clinical knowledge in diabetes, endocrinology, and metabolic disorders.
We invite researchers, academicians, and healthcare professionals to publish original research, reviews, and case reports with us.
Submit your manuscript:
ucjournals.com/submit-manuscript/
Learn more about the journal:
ucjournals.com/global-journal-of-diabetes-endocrinology-m...
For inquiries, contact us on WhatsApp:
#UCJournals #GlobalJournal #DiabetesResearch #Endocrinology #MetabolicDisorders #ResearchPublication #MedicalJournals #OpenAccessJournals #CallForPapers #ClinicalResearch #HealthcareResearch