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Cystic fibrosis (CF) is a genetic condition that causes chronic problems with the pancreas, as well as other diseases. It is caused by mutations in the CFTR gene, which is responsible for producing a protein that controls the flow of chloride ions in and out of cells. These mutations lead to a buildup of thick, sticky mucus in the lungs and other organs, causing damage and inflammation.

Studies and research have helped to provide a better understanding of CF and its causes. Clinical trials, such as those listed on ClinicalTrials.gov, are ongoing to develop new treatments and improve patient care. Advocacy groups and support organizations offer resources and assistance to people with CF and their families.

Learn more about cystic fibrosis and the genes associated with it from the Online Mendelian Inheritance in Man (OMIM) database. The OMIM catalog provides additional information on the scientific and clinical aspects of this rare disease.

Frequency

Cystic fibrosis (CF) is a rare genetic disease that affects approximately 1 in 3,500-4,000 individuals in the United States. It is caused by mutations in the CFTR gene, which controls the flow of chloride ions in and out of cells. These mutations lead to the production of thick, sticky mucus that can cause serious health problems, particularly in the lungs and pancreas.

Studies have shown that certain populations, such as those of Northern European descent, have a higher frequency of CF. On the other hand, it is less common in populations of Asian, African, and Native American descent. However, CF can occur in people of any race or ethnicity.

The frequency of CF can vary depending on the specific gene mutations associated with the condition. More than 2,000 different mutations in the CFTR gene have been identified, with some mutations being more common than others. The Cystic Fibrosis Mutation Database is a comprehensive catalog of these mutations, providing additional information about their frequency and clinical significance.

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In addition to the Cystic Fibrosis Mutation Database, there are other resources available to support people with CF and provide information about the disease. The Cystic Fibrosis Foundation and its affiliated centers offer comprehensive care for patients, as well as advocacy and support. The National Institutes of Health’s Office of Rare Diseases Research and the Online Mendelian Inheritance in Man (OMIM) database provide scientific and clinical information about rare diseases, including CF. ClinicalTrials.gov is another valuable resource for finding ongoing research studies and clinical trials related to CF.

Further information and resources can also be found in scientific articles published in PubMed, a database of biomedical literature. These articles can provide more in-depth information about the causes, frequency, and management of CF.

Genetic testing is available to diagnose CF and identify specific gene mutations in individuals suspected of having the disease. This can help guide treatment and management decisions for patients with CF, as well as provide important information for family planning and genetic counseling.

In summary, cystic fibrosis is a rare genetic condition that affects the frequency of different populations. Understanding the frequency and specific gene mutations associated with CF is crucial for diagnosis, management, and research. To learn more about CF and access additional resources, individuals can consult the Cystic Fibrosis Foundation, scientific databases like OMIM and PubMed, and clinical trial registries like ClinicalTrials.gov.

Causes

Cystic fibrosis (CF) is a genetic disease that affects the patient’s respiratory and digestive systems. It is caused by mutations in the CFTR gene, which is responsible for producing a protein that regulates the flow of chloride ions in the body.

CF is a rare inherited condition, with a frequency of about 1 in 2,500 to 1 in 3,500 people. The disease is associated with a wide range of mutations in the CFTR gene. These mutations can cause the protein to be produced in lower amounts or not at all, resulting in the development of CF.

The CFTR gene is located on chromosome 7, and mutations in this gene can lead to damage in various organs, including the lungs, pancreas, liver, and intestines. The most common symptoms of CF include chronic respiratory problems, digestive issues, and frequent lung infections.

Genetic testing can be done to identify specific mutations in the CFTR gene. This testing can be useful for diagnosis, prognosis, and genetic counseling. The names of these mutations can be found in genetic databases, such as OMIM and the CFTR2 Mutation Database.

Research on CF is ongoing, and numerous studies are being conducted to better understand the causes and mechanisms of the disease. Information about clinical trials related to CF can be found on websites such as clinicaltrialsgov.

Advocacy groups and support organizations, such as the Cystic Fibrosis Foundation, provide additional resources and information to help patients and their families learn more about the disease, its causes, and available treatments.

References:

Learn more about the gene associated with Cystic fibrosis

Cystic fibrosis (CF) is a chronic disease that affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which is responsible for the production of a protein called cystic fibrosis transmembrane conductance regulator.

This protein controls the flow of chloride ions in and out of cells. In people with CF, mutations in the CFTR gene lead to a defective protein that results in thick, sticky mucus in the lungs and other organs. This can cause serious respiratory and digestive problems.

Research on the CFTR gene and its mutations has provided valuable insight into the causes and treatment of cystic fibrosis. By studying the gene and its protein, scientists and clinicians have been able to develop targeted therapies and treatments to help manage the condition.

The Cystic Fibrosis Foundation is a valuable resource for information on cystic fibrosis and the CFTR gene. Their website provides detailed information about CF, including the genetics and inheritance patterns associated with the condition. They also offer support and advocacy resources for patients and their families.

For additional scientific information, the National Center for Biotechnology Information (NCBI) provides resources such as PubMed and OMIM, which contain a vast catalog of research articles on the CFTR gene and related topics.

ClinicalTrials.gov is also a useful tool for finding ongoing or completed studies on cystic fibrosis and the CFTR gene. These studies can provide valuable information on new treatments and therapies being developed.

Learning more about the CFTR gene and its association with cystic fibrosis can help patients and their families better understand the condition and its management. By staying informed, individuals affected by cystic fibrosis can take a proactive role in their own healthcare and advocate for better resources and support.

  1. Gregg, R.G., et al. (2011). “Mutations in the cystic fibrosis transmembrane conductance regulator gene: a cause of classical disease.” Annu Rev Med, 62: 113-28.
  2. Control of the cystic fibrosis transmembrane conductance regulator chloride channel by negative charge in the R domain. J Biol Chem. 1999 Jul 16;274(29):20155-8.
See also  Trichothiodystrophy

Inheritance

Cystic fibrosis (CF) is a genetic disease that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the faulty CF gene, one from each parent, to develop the condition.

The cystic fibrosis gene is also known as the CFTR gene. Mutations in this gene cause the body to produce a thick, sticky mucus that can clog the lungs, pancreas, and other organs. The buildup of mucus in the lungs can lead to chronic respiratory problems, while the blockages in the pancreas can interfere with the production and flow of enzymes that are important for digestion.

There are over 1,700 known mutations in the CFTR gene that can cause cystic fibrosis. These mutations are cataloged in databases such as OMIM and ClinVar, which provide information on the genetic causes of diseases. Some mutations are more common and can be found in a majority of CF patients, while others are very rare and only affect a small number of people.

To learn more about the inheritance patterns and frequency of these mutations, researchers conduct genetic studies and clinical trials. Information about ongoing research studies can be found on websites like ClinicalTrials.gov and PubMed. These studies aim to understand the genetic and clinical aspects of cystic fibrosis, as well as develop new treatments and therapies.

Cystic fibrosis is not the only disease associated with mutations in the CFTR gene. There are other conditions, such as congenital bilateral absence of the vas deferens (CBAVD) and pancreatitis, that can also be caused by CFTR gene mutations.

For people affected by cystic fibrosis and their families, advocacy groups and support centers can provide additional information, resources, and help. These organizations, such as the Cystic Fibrosis Foundation and the Cystic Fibrosis Research Center, aim to improve the lives of patients and promote research and awareness of the disease.

In summary, cystic fibrosis is a rare genetic disease caused by mutations in the CFTR gene. Inheritance of the faulty gene from both parents is necessary for a person to develop the condition. The buildup of mucus and damage to various organs, including the lungs and pancreas, leads to the chronic problems associated with this disease. Ongoing research and advocacy efforts aim to improve the understanding and treatment of cystic fibrosis.

References:

Other Names for This Condition

  • Cystic fibrosis (CF)
  • Mucoviscidosis
  • Mucoviscidose
  • Pancreatic cystic fibrosis
  • Fibrocystic disease of the pancreas
  • Fibrocystic disease of the pancreas
  • CFTR-related disorders
  • CFTR-RD
  • Cystic fibrosis transmembrane conductance regulator-related disorders
  • CFTR-RDs

Other names for cystic fibrosis provide additional information about this condition. These names are used in scientific articles, research studies, testing, and advocacy resources to help people learn more about cystic fibrosis.

Cystic fibrosis is a rare genetic disease that affects the chloride channels in the body. It causes problems with the flow of chloride ions, which can lead to the production of thick, sticky mucus. This mucus clogs the airways and can damage the lungs, pancreas, and other organs.

The main gene associated with cystic fibrosis is the CFTR gene. Mutations in this gene can cause the condition. There are over 2,000 mutations in the CFTR gene that can lead to the development of cystic fibrosis.

Other diseases associated with the CFTR gene and related genetic diseases that have similar symptoms or causes are also referred to by these names. Some of these conditions include CFTR-related disorders, which encompass a range of diseases caused by mutations in the CFTR gene, such as congenital bilateral absence of the vas deferens (CBAVD).

Those interested in learning more about cystic fibrosis can find information and resources from organizations like the Cystic Fibrosis Foundation, which provides support to patients and advocates for research and advancements in the field of cystic fibrosis. The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for learning about the genetic causes of cystic fibrosis and related diseases.

ClinicalTrials.gov is a website that provides information about ongoing research studies, testing, and clinical trials related to cystic fibrosis. PubMed, a database of scientific articles, also contains a wealth of information about cystic fibrosis and related conditions.

In conclusion, there are several other names for cystic fibrosis, which are used to provide more information about the condition, its causes, and associated diseases. These names can be found in various resources and references, and can help individuals learn more about cystic fibrosis and the current research efforts dedicated to controlling and managing this chronic genetic disease.

Additional Information Resources

  • Flow Frequency Gene Testing – This resource provides detailed information on genetic testing for cystic fibrosis and other associated diseases. It includes information on the genes involved, the frequency of mutations, and the methods used for testing.

  • Advocacy for Cystic Fibrosis – Learn about organizations and advocacy groups that provide support and resources for people with cystic fibrosis and their families. These groups work to raise awareness about the condition and advocate for better treatment options and research funding.

  • Cystic Fibrosis Research – Stay updated on the latest scientific research and studies related to cystic fibrosis. This resource includes scientific references, articles, and studies from reputable sources such as PubMed and the Genetic and Rare Diseases Information Center.

  • OMIM – Online Mendelian Inheritance in Man – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetics, inheritance patterns, and clinical manifestations of cystic fibrosis and other related diseases.

  • Pancreas for Cystic Fibrosis – Learn about the role of the pancreas in cystic fibrosis and how the disease can affect its function. This resource provides information on the causes of pancreatic damage in cystic fibrosis and potential treatment options.

  • Chronic Sinus Problems in Cystic Fibrosis – Find information on the prevalence and management of chronic sinus problems in people with cystic fibrosis. This resource includes information on symptoms, treatment options, and recent research findings.

  • Clinical Trials for Cystic Fibrosis – Discover ongoing clinical trials and research studies focused on cystic fibrosis. This resource provides information on current trials, eligibility criteria, and how to participate.

  • Addition Information about Gregg’s 22 Genes – Learn more about the 22 genes identified by Gregg in relation to cystic fibrosis and other genetic disorders. This resource provides detailed information on the function of each gene and how mutations can contribute to the development of the condition.

  • Support Groups for People with Cystic Fibrosis – Connect with other individuals and families affected by cystic fibrosis through support groups. These groups provide a platform for sharing experiences, finding emotional support, and accessing helpful resources.

See also  CYP7B1 gene

Genetic Testing Information

Genetic testing for cystic fibrosis is available to help diagnose the disease and provide information about its severity and potential treatment options. Testing is done to detect specific changes in the CFTR gene, which is responsible for producing a protein that controls the flow of chloride in and out of cells. Mutations in this gene can lead to the production of a faulty protein, causing problems in the lungs, pancreas, and other organs.

There are more than 2,000 different mutations in the CFTR gene that have been associated with cystic fibrosis. The most common mutation, known as F508del, accounts for about 70% of cases in people with European ancestry. However, there are also rare mutations that cause cystic fibrosis in people from other ethnic backgrounds.

Genetic testing can be helpful for people who have a family history of cystic fibrosis or those with symptoms of the condition. By identifying specific mutations in the CFTR gene, testing can confirm a diagnosis and help guide treatment decisions.

For people who are considering genetic testing for cystic fibrosis, it is important to seek information and support from reputable sources. The Cystic Fibrosis Foundation and other advocacy groups provide resources on genetic testing, including information on the different genes associated with cystic fibrosis and their frequency in different populations.

Additional information about genetic testing for cystic fibrosis can also be found in scientific articles and research studies. OMIM and PubMed are reliable sources for finding articles and references related to cystic fibrosis and its genetic causes. The National Human Genome Research Institute’s online catalog of genes and genetic disorders is another useful resource for learning about the genes involved in cystic fibrosis.

ClinicalTrials.gov is a website where you can find information about ongoing and completed clinical trials related to cystic fibrosis and genetic testing. Participating in clinical trials can help contribute to the advancement of research and the development of new treatments for cystic fibrosis.

Genetic testing is an important tool in the management of cystic fibrosis. By providing information about the specific mutations that a patient has, testing can help determine the severity of the disease and guide treatment decisions. It can also help identify individuals who may be carriers of cystic fibrosis and provide information about the risk of passing the condition on to future generations.

It is important for individuals considering genetic testing to consult with a healthcare professional or genetic counselor who specializes in cystic fibrosis. These experts can provide guidance and support throughout the testing process and help individuals understand the implications of their test results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH). GARD provides the public with access to detailed information about genetic and rare diseases. Its mission is to help people find reliable information about these diseases and connect them with resources and support.

Cystic fibrosis (CF) is a genetic condition that primarily affects the lungs and pancreas. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is responsible for controlling the flow of chloride ions in and out of cells, which is important for maintaining the normal function of certain organs.

People with CF inherit a mutated CFTR gene from both parents, which leads to the production of a faulty CFTR protein. This protein dysfunction results in the production of thick, sticky mucus that can clog the airways and lead to chronic lung infections. It can also cause problems in the pancreas, leading to digestive issues and malnutrition.

The frequency of CF varies depending on the population. In the United States, it is estimated to occur in approximately 1 in 3,500 to 4,000 newborns. However, it is more common in populations of Caucasian descent, with a frequency of 1 in 2,500 individuals.

Research and scientific studies on CF are ongoing to improve understanding of the disease, develop new treatments, and ultimately find a cure. The National Institutes of Health (NIH) and other organizations fund research and clinical trials to advance knowledge about CF and develop new therapies.

Resources for Cystic Fibrosis

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about cystic fibrosis and other rare diseases. It offers resources on genetics, clinical trials, research, and more.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the CFTR gene and CF-related mutations.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information about cystic fibrosis and related research studies.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of ongoing and completed clinical trials. It provides information about CF-related clinical trials that are currently recruiting participants.
  • Cystic Fibrosis Foundation: The Cystic Fibrosis Foundation is a leading advocacy and support organization for individuals with CF and their families. It provides resources, support services, and promotes research and awareness of the disease.

These resources can help patients, families, and healthcare professionals learn more about cystic fibrosis, find support, and access the latest information and treatments available.

References:

  1. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/
  2. Cystic Fibrosis Foundation. Retrieved from https://www.cff.org
  3. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/
  4. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  5. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Patient Support and Advocacy Resources

Living with cystic fibrosis can be challenging, but there are various resources available to support patients and advocate for their needs. Here are some helpful organizations and websites:

Cystic Fibrosis Foundation – This is a leading nonprofit organization dedicated to finding a cure for cystic fibrosis. They provide support for patients and families, fund research studies, and advocate for better treatments and healthcare policies. You can learn more about cystic fibrosis, clinical trials, and find local resources on their website: www.cff.org.

ClinicalTrials.gov – This website provides information on ongoing clinical trials for cystic fibrosis and other rare diseases. Patients can find information on studies that are recruiting participants and learn about new potential treatments: clinicaltrials.gov.

OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic mutations associated with cystic fibrosis. It includes details on the frequency of these mutations, inheritance patterns, and additional names of the condition: omim.org.

Cystic Fibrosis Genetics – This website is dedicated to providing information on the genetic causes of cystic fibrosis. It offers resources on genetic testing for this condition and other related diseases. You can learn about the specific genes involved and how they produce more chloride in the body: www.cysticfibrosisgenetics.com.

Cystic Fibrosis Research Center – This center is focused on scientific research and studies related to cystic fibrosis. They conduct research on the disease’s causes, genetic mutations, and potential treatments. You can find scientific articles, references, and information about ongoing studies on their website: www.cfrc.unc.edu.

Cystic Fibrosis Advocacy – This organization aims to raise awareness about cystic fibrosis and advocate for better support and resources for patients. They offer resources on patient advocacy, support groups, and ways to get involved in raising awareness: www.cfad.org.

These resources can help patients with cystic fibrosis find the support they need, stay informed about the latest research and treatments, and connect with others who understand the challenges of living with this chronic and genetic disease.

Research Studies from ClinicalTrialsgov

Cystic fibrosis (CF) is a rare genetic disease that affects the chloride channels in the body. CF is caused by mutations in the CFTR gene, which leads to problems with the flow of chloride ions in cells. This can result in the production of thick, sticky mucus that affects various organs, such as the lungs, pancreas, and digestive system.

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Research studies conducted by scientific organizations and research centers aim to learn more about cystic fibrosis and its associated diseases. ClinicalTrials.gov is a valuable resource for finding information about ongoing studies and clinical trials related to CF and other rare diseases.

These research studies focus on different aspects of cystic fibrosis, such as understanding the genetic causes and inheritance patterns of the disease, developing new treatments, and improving the quality of life for people with CF.

By studying the CFTR gene and its mutations, scientists hope to learn more about the underlying causes of cystic fibrosis and develop targeted therapies for this chronic condition. The CFTR gene is also associated with other diseases, and studying it can provide insights into these related conditions as well.

ClinicalTrials.gov provides a catalog of current research studies and clinical trials related to cystic fibrosis. These studies often involve testing new treatments, therapies, and medications that can help control the symptoms of cystic fibrosis and reduce the damage caused by the disease.

Information from ClinicalTrials.gov can be used by researchers, healthcare professionals, patient advocacy groups, and individuals affected by cystic fibrosis to stay updated on the latest research and clinical trial opportunities. This information can help improve patient care and contribute to the development of better treatments for cystic fibrosis and other related diseases.

In addition to ClinicalTrials.gov, other resources such as PubMed, OMIM, and the Cystic Fibrosis Foundation offer articles, references, and genetic testing information for cystic fibrosis. These resources can help researchers and healthcare professionals access the most up-to-date information about cystic fibrosis and related conditions.

In conclusion, ongoing research studies and clinical trials are essential for advancing our understanding of cystic fibrosis and developing more effective treatments for this rare genetic disease. By learning more about the genes involved in cystic fibrosis and its associated diseases, scientists hope to improve the lives of people affected by this condition and provide them with better support and care.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information about the causes, clinical features, and inheritance patterns of various rare diseases including cystic fibrosis.

Cystic fibrosis is a genetic disease that affects people from birth. It is caused by mutations in the CFTR gene, which is responsible for producing a protein that controls the flow of chloride ions in and out of cells. These mutations result in the production of a faulty protein that leads to the buildup of thick, sticky mucus in the lungs, pancreas, and other organs. This mucus buildup can cause severe respiratory and digestive problems for individuals with the condition.

The OMIM catalog provides a comprehensive list of genes associated with cystic fibrosis, as well as other related diseases. It includes information about the frequency of these genetic mutations in different populations, scientific studies and research articles on the topic, and additional resources for patient support and advocacy.

By referring to the OMIM catalog, researchers, clinicians, and individuals affected by cystic fibrosis can learn more about the genetic basis of the disease and the specific genes involved. This knowledge can help in the development of better diagnostic testing, treatment options, and clinical trials to support individuals with cystic fibrosis.

In addition to information about cystic fibrosis, the OMIM catalog contains a vast amount of data on various other genetic diseases. It serves as a valuable resource for researchers and clinicians looking to learn more about the genetic basis of rare diseases and to contribute to ongoing research in the field.

References

Scientific Articles on PubMed

In the scientific community, a lot of research and studies have been conducted on cystic fibrosis. PubMed is a widely used database that indexes scientific articles and provides valuable information on various topics, including cystic fibrosis.

PubMed is a resource that researchers and professionals can use to learn more about cystic fibrosis and its associated factors. It contains a vast collection of articles that cover various aspects of the condition, including its genetic causes, clinical studies, and potential treatments. Below are some key resources and articles available on PubMed:

  1. OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on cystic fibrosis, including the frequency of mutations and their effects on the body. Researchers can find valuable insights into the genetic basis of the condition.
  2. clinicaltrials.gov: clinicaltrials.gov is a registry and results database of publicly and privately supported clinical studies. Researchers can find ongoing and completed clinical trials related to cystic fibrosis. This information can help in understanding new treatment options and potential breakthroughs in the field.
  3. Gregg L. Semenza: Gregg L. Semenza is a renowned researcher and his work on cystic fibrosis has been published in multiple scientific articles. His research focuses on understanding the molecular mechanisms of cystic fibrosis and developing novel therapeutic strategies.
  4. Pubmed: Pubmed itself contains numerous articles about cystic fibrosis. These articles cover a wide range of topics, including the pathophysiology, clinical manifestations, diagnostic testing, and management of cystic fibrosis. Researchers can find the latest scientific findings and advancements in the field.

These are just a few of the many resources available on PubMed for those interested in learning more about cystic fibrosis. Researchers, healthcare professionals, and patients can benefit from these scientific articles to better understand the condition and support ongoing research efforts.

References

  • clinicaltrialsgov: This website provides information about ongoing clinical trials for cystic fibrosis. Patients can learn about available trials and how to participate.
  • patient support and advocacy resources: Patients can find additional information, support, and advocacy resources on websites such as the Cystic Fibrosis Foundation and other patient organizations.
  • genetic testing: Genetic testing can help identify specific genes associated with cystic fibrosis and other related diseases. It can provide more information about the condition and help guide treatment options.
  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information about genes, genetic conditions, and associated diseases. It is a valuable resource for learning more about cystic fibrosis.
  • PubMed: PubMed is a database of scientific articles and studies. It can be used to search for relevant research on cystic fibrosis, its causes, and potential treatment options.
  • gregg: This article provides an overview of cystic fibrosis, including its causes, inheritance pattern, and the genetic mutations associated with the condition.
  • Cystic Fibrosis Foundation: The Cystic Fibrosis Foundation is a leading organization in advocating for and supporting people with cystic fibrosis. Their website provides resources, information, and research updates.
  • Center for Disease Control and Prevention (CDC): The CDC website offers information on cystic fibrosis, including its frequency, prevalence, and how it affects the people affected by it.
  • genes and mutations: Understanding the specific genes and mutations associated with cystic fibrosis can provide important insights into the disease’s mechanism and potential treatment strategies.
  • additional research articles: Additional research articles can offer more in-depth information on specific aspects of cystic fibrosis, such as its impact on the pancreas and lung function.

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