Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare genetic condition that affects the development of the lungs. It is characterized by abnormal formation of the alveolar capillaries, which are small blood vessels that surround the air sacs in the lungs. This dysplasia leads to the misalignment of the pulmonary veins, which carry oxygenated blood from the lungs to the heart.

ACDMPV is inherited in an autosomal recessive pattern, which means that both copies of the gene associated with the condition must be mutated in order for a person to have the disorder. The specific genes that are responsible for ACDMPV have not yet been identified, but research studies are ongoing to learn more about the genetic causes of the condition.

The signs and symptoms of ACDMPV vary from person to person, but may include difficulty breathing, rapid breathing, and low oxygen levels in the bloodstream. Additional associated malformations can affect the heart, gastrointestinal tract, and other organs.

Diagnosing ACDMPV can be challenging, as it is a rare condition. Genetic testing can be used to confirm a diagnosis, but it may not be available in all centers. Additional testing, such as imaging studies and lung biopsies, may also be necessary.

Treatment options for ACDMPV are limited, and the condition is often fatal in the neonatal period. Supportive care, including respiratory support and management of associated complications, is the mainstay of treatment. Clinical trials and research studies are ongoing to learn more about the condition and identify potential therapies.

More information about ACDMPV can be found on websites such as OMIM, clinicaltrialsgov, and PubMed. These resources provide scientific articles, genetic information, and advocacy and support for patients and their families. It is important to consult with a healthcare professional and genetic counselor for specific medical advice and information about ACDMPV.

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Frequency

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a very rare genetic condition that affects the development of the lungs. According to research, the frequency of ACDMPV is estimated to be around 1 in every 100,000 to 150,000 newborns. This makes it an extremely rare disease.

Due to its rarity, not much is known about the specific genes that are associated with ACDMPV. However, it is believed to be caused by mutations in the FOXF1 gene on chromosome 16. In some cases, other genes have also been found to be involved, but further research is needed to fully understand the genetic basis of this condition.

ACDMPV is associated with a variety of symptoms and can lead to life-threatening complications. The condition affects the development of the alveoli, which are the tiny air sacs in the lungs responsible for exchanging oxygen and carbon dioxide. The misalignment of pulmonary veins and abnormal development of the capillaries in the alveolar walls contribute to the impaired oxygenation and increased pulmonary vascular resistance seen in ACDMPV.

Diagnosing ACDMPV can be challenging, as it requires a thorough evaluation of the patient’s clinical symptoms, as well as specialized tests and imaging studies. Additional genetic testing may also be performed to identify any specific gene mutations associated with the condition.

Due to the rarity of ACDMPV, there are limited resources and support available for affected individuals and their families. However, there are advocacy groups and research centers dedicated to providing information, support, and resources for families affected by rare genetic diseases. OMIM is a catalog of human genes and genetic disorders, which provides valuable information about ACDMPV and other rare diseases. Searching for published research articles on PubMed can also provide more information about the condition.

Overall, the frequency of ACDMPV is extremely rare, and much more research is needed to better understand the genetic and clinical aspects of this condition. Ongoing scientific studies and clinical trials are crucial to support affected individuals and their families and to further advance our knowledge and treatment options for ACDMPV.

Causes

The exact cause of Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is not yet fully understood. However, scientific studies have identified certain genetic abnormalities that are associated with the condition. ACDMPV is thought to be caused by mutations in the FOXF1 gene, which is located on chromosome 16. These mutations disrupt the normal development of the alveoli and pulmonary blood vessels, leading to the characteristic features of the condition.

In addition to the FOXF1 gene, other genes and genetic factors may also play a role in the development of ACDMPV. Ongoing research aims to identify these genes and gain a better understanding of their functions and how they contribute to the condition.

ACDMPV is considered a rare genetic disorder. It is estimated to occur in approximately 1 in every 26,000 to 50,000 live births. The condition can occur sporadically, meaning it occurs randomly without a family history. However, in some cases, ACDMPV can be inherited from an affected parent. The inheritance pattern for ACDMPV is not fully understood, but it is thought to involve both genetic and environmental factors.

Scientific studies and advocacy organizations have been working to raise awareness about ACDMPV and provide support for affected individuals and their families. The Alveolar Capillary Dysplasia Association (ACDA) is one such organization that provides information and support for families affected by ACDMPV.

ACDMPV is characterized by malformations in the alveolar capillaries and misalignment of the pulmonary veins. The alveoli, which are tiny air sacs in the lungs, are responsible for exchanging oxygen and carbon dioxide with the bloodstream. In individuals with ACDMPV, the alveoli are underdeveloped and do not function properly. This leads to severe respiratory distress and can be life-threatening.

ACDMPV is also associated with other medical problems, including gastrointestinal malformations and persistent pulmonary hypertension (high blood pressure in the pulmonary arteries). These additional complications can further complicate the management and treatment of individuals with ACDMPV.

Further research and clinical trials are ongoing to learn more about the causes of ACDMPV and to develop better treatment options for affected individuals. Information about ongoing clinical trials can be found on the clinicaltrials.gov website, and additional scientific articles and research can be found on PubMed and OMIM.

Learn more about the gene and chromosome associated with Alveolar capillary dysplasia with misalignment of pulmonary veins

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare genetic disorder characterized by abnormal development of the alveoli (the tiny air sacs) and the capillary blood vessels in the lungs. It is primarily caused by mutations in the FOXF1 gene, located on chromosome 16.

The FOXF1 gene plays a crucial role in the development of the lungs and other organs. Mutations in this gene can disrupt the normal processes involved in the formation and function of the alveoli and capillary blood vessels, leading to the characteristic features of ACD/MPV.

To date, several mutations in the FOXF1 gene have been associated with ACD/MPV. Genetic testing can be used to identify these mutations in individuals suspected to have the disorder. This testing involves analyzing the DNA of the patient to look for mutations in the FOXF1 gene.

As ACD/MPV is a rare disease, there is limited information available on specific treatments or interventions. However, ongoing research and clinical trials are aimed at better understanding the genetic basis of the disorder and developing potential therapies.

For more information on ACD/MPV and related genetic diseases, additional resources can be found in various medical databases such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide comprehensive articles, references, and clinical trial information to support further research and improve patient care.

It is important to note that ACD/MPV can be associated with other abnormalities and malformations in different organ systems, including the heart, gastrointestinal tract, and pulmonary vasculature. Therefore, a thorough evaluation of patients with ACD/MPV should also include assessment for these additional conditions.

In summary, ACD/MPV is a rare genetic disorder characterized by abnormal development of the alveoli and capillary blood vessels in the lungs. The FOXF1 gene, located on chromosome 16, is associated with this condition. Genetic testing can be used to identify mutations in the FOXF1 gene. Further research and clinical trials are ongoing to gain more insight into the disorder and develop potential interventions.

Inheritance

The inheritance pattern of alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is not well understood. The majority of cases appear to occur sporadically, meaning they are not inherited from parents and are instead the result of random mutations in a person’s genes.

However, in some rare cases, ACD/MPV can be inherited in an autosomal recessive or autosomal dominant manner. In autosomal recessive inheritance, both copies of a specific gene must be altered in order for a person to develop the condition. If one copy of the gene is altered, the person is called a carrier and typically does not show any symptoms of the disorder. When two carriers have children together, each child has a 25% chance of inheriting the altered gene from both parents and developing ACD/MPV.

In autosomal dominant inheritance, only one copy of the gene needs to be altered in order for a person to develop ACD/MPV. If a person with the altered gene has children, each child has a 50% chance of inheriting the altered gene and developing the condition. It is also possible for a person with the altered gene to pass it on to their children, even if they do not show any symptoms themselves.

Research is ongoing to identify the specific genes and genetic variations that are associated with ACD/MPV. Several genes have been implicated in the development of the condition, including FOXF1, NR2F2, SPINT2, and BMP4. Mutations in these genes are thought to disrupt normal development of the alveoli (small air sacs in the lungs) and the blood vessels surrounding them, leading to the characteristic features of ACD/MPV.

Given the complexity of the genetic factors involved, genetic testing can be useful in confirming a diagnosis of ACD/MPV and providing information about its inheritance pattern. The Genetic and Rare Diseases Information Center (GARD) and other advocacy and support resources can provide additional information and support to patients and their families.

It is important to note that while some genetic causes of ACD/MPV have been identified, the underlying cause of the condition in many cases remains unknown. Further research and studies are needed to fully understand the genetic and environmental factors that contribute to the development of ACD/MPV.

Other Names for This Condition

• Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV)
• ACD with MPV
• Alveolar capillary dysplasia (ACD)
• Alveolar capillary dysplasia, congenital
• Alveolar capillary dysplasia with misalignment of pulmonary veins, autosomal dominant
• Alveolar capillary dysplasia with misalignment of pulmonary veins, autosomal recessive
• Capillary malformation of the lungs
• CDL
• CDH-PV
• Complex pulmonary vascular malformations

Patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) may be interested in obtaining more information about this condition. The following resources provide further information and support:

• OMIM: OMIM provides a comprehensive database of genetic diseases, including Alveolar capillary dysplasia with misalignment of pulmonary veins. Patients can search for specific genes, associated clinical features, inheritance patterns, and more.
• PubMed: PubMed is a scientific research database that can be used to find articles and studies related to Alveolar capillary dysplasia with misalignment of pulmonary veins. Patients can search for specific keywords, such as genes, additional associated malformations, and other related diseases.
• GENET: The Genetic and Rare Diseases Information Center provides patient-friendly information on Alveolar capillary dysplasia with misalignment of pulmonary veins, including causes, inheritance patterns, and available treatments.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing and completed clinical trials. Patients can search for clinical trials related to Alveolar capillary dysplasia with misalignment of pulmonary veins to find potential treatment options or opportunities to participate in research.
• Carbon dioxide on Wikipedia: Carbon dioxide is a gas that plays a crucial role in the respiratory system. This Wikipedia article provides information on how carbon dioxide is transported in the blood and its effects on the body.
• Advocacy organizations: There are several advocacy organizations that provide support and resources for patients and families affected by Alveolar capillary dysplasia with misalignment of pulmonary veins. These organizations can provide information, connect patients with others facing similar challenges, and offer support for managing the condition.
• Additional resources: Additional resources, such as books, websites, and support groups, may also be available to provide further information and support.

Additional Information Resources

For more information on alveolar capillary dysplasia with misalignment of pulmonary veins, the following resources may be helpful:

• The Alveolar Capillary Dysplasia Foundation: An advocacy center that provides support and resources for patients and families affected by this rare condition. Visit their website for more information: https://acdasso.org/
• The Genetic and Rare Diseases Information Center (GARD): GARD provides information on the frequency, inheritance, and causes of alveolar capillary dysplasia with misalignment of pulmonary veins. Learn more on their website: https://rarediseases.info.nih.gov/diseases/10710/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis and clinical features of various diseases, including alveolar capillary dysplasia with misalignment of pulmonary veins. Access their database here: https://omim.org/
• PubMed: A database of scientific articles and studies on various medical conditions. Search for more information on alveolar capillary dysplasia and misalignment of pulmonary veins here: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: Find information on ongoing clinical trials related to alveolar capillary dysplasia with misalignment of pulmonary veins, including testing of potential treatments. Search their database here: https://clinicaltrials.gov/

These resources offer additional support and information for individuals and families affected by alveolar capillary dysplasia with misalignment of pulmonary veins. It is important to consult with healthcare professionals and genetic specialists for personalized guidance and recommendations.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV). It helps identify the specific genetic variations or mutations that cause this condition.

ACD/MPV has been linked to genetic changes on the FOXF1 gene, located on chromosome 16. Mutations in this gene can disrupt the normal development of alveolar capillaries and misalign the pulmonary veins, leading to the characteristic clinical features of ACD/MPV.

Genetic testing for ACD/MPV can be performed using various techniques, including sequencing the FOXF1 gene to identify specific mutations. This test can be ordered through specialized genetic testing laboratories or genetic centers.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genes and genetic conditions. It contains detailed information about ACD/MPV, including the genetic mutations associated with the condition. The OMIM ID for ACD/MPV is 265380.

PubMed is a valuable resource for scientific research articles. It contains numerous studies and publications related to ACD/MPV, including genetic research and clinical studies. Searching for keywords like “ACD/MPV genetics” or “FOXF1 mutations” can provide additional scientific information on this condition.

Further information and support can be obtained from patient advocacy organizations and rare disease support groups. These organizations often provide educational resources, support networks, and help connect individuals and families affected by ACD/MPV. Some notable advocacy organizations include the ACD Association (www.acdassociation.org) and the Genetic and Rare Diseases Information Center (rarediseases.info.nih.gov/gard/10475/alveolar-capillary-dysplasia-misalignment-pulmonary-veins).

ClinicalTrials.gov is a useful resource to learn about ongoing clinical trials and research studies related to ACD/MPV. It provides information on potential treatment options, as well as opportunities to participate in research to further understand the causes and management of this condition.

In summary, genetic testing is crucial for the diagnosis of ACD/MPV, as it helps identify specific gene mutations that cause this condition. Resources such as OMIM, PubMed, patient advocacy organizations, and clinicaltrials.gov provide additional information and support to patients, families, and researchers interested in learning more about ACD/MPV.

Genetic and Rare Diseases Information Center

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare genetic condition that affects the development of the lungs. People with this condition have abnormal development of the alveoli, which are tiny air sacs in the lungs where oxygen is exchanged for carbon dioxide. Additionally, the pulmonary veins, which carry oxygenated blood back to the heart, are misaligned in individuals with ACDMPV.

The exact frequency of ACDMPV is unknown, but it is considered a rare condition. ACDMPV can be caused by mutations in the FOXF1 gene or other unknown genes. Studies have found an association between ACDMPV and other malformations, such as those affecting the gastrointestinal tract and the heart.

The Genetic and Rare Diseases Information Center (GARD) provides free information on ACDMPV and other rare diseases. They offer support and advocacy for patients and their families, as well as resources for healthcare providers and researchers.

On the GARD website, you can learn more about the symptoms, diagnosis, and treatment options for ACDMPV. They also provide information on the inheritance pattern of ACDMPV and research studies that may be available for individuals with this condition.

Additional information on ACDMPV can be found in the GARD catalog of rare diseases, as well as on other reputable sources such as OMIM and PubMed. These sources provide references to articles and studies that provide more in-depth information on the genetic causes, clinical features, and management of ACDMPV.

If you or someone you know has been diagnosed with ACDMPV, it is important to seek appropriate medical care and support. The GARD website and other reputable sources can provide valuable information and resources to help you better understand and manage this rare condition.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance, information, and support to individuals and families affected by Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV). These resources offer a variety of services to help navigate the challenges and complexities of living with this rare condition.

One valuable resource is PubMed, a free online database of scientific articles, research studies, and clinical trials. Patients and their families can use PubMed to access the latest information on ACD/MPV, including insights into the causes, inheritance patterns, and genetic testing associated with the condition. PubMed also provides access to additional resources on related topics such as pulmonary hypertension, alveoli, and capillary walls.

Another resource is the National Center for Advancing Translational Sciences (NCATS), which offers a comprehensive catalog of patient advocacy organizations and support groups. These organizations provide a wide range of support services, including educational materials, online forums, and financial assistance for medical expenses. Patients can also find information on clinical trials and research studies related to ACD/MPV on websites like ClinicalTrials.gov.

By joining patient advocacy organizations and support groups, individuals and families affected by ACD/MPV can connect with others who have similar experiences. These communities offer a safe space for sharing personal stories, seeking advice, and finding emotional support. They can also provide opportunities to participate in advocacy initiatives and raise awareness about ACD/MPV.

Learning more about ACD/MPV and connecting with patient support and advocacy resources is essential for patients and their families. These resources can provide valuable information, emotional support, and guidance throughout the journey of living with a rare and complex condition.

Research Studies from ClinicalTrials.gov

The condition known as Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV) is a rare genetic disorder that affects the development of the alveoli and the alignment of the pulmonary veins in the lungs. It is characterized by abnormal formation of the capillaries in the alveolar walls, leading to poor oxygen and carbon dioxide exchange within the bloodstream.

Research studies conducted by clinicaltrialsgov have provided additional information about the genetic causes of ACD/MPV. They have identified several genes that are associated with this condition, including those involved in the development of the pulmonary veins and the gastrointestinal tract. These studies have also found that the inheritance pattern of ACD/MPV can be variable, with some cases being inherited in an autosomal dominant manner and others occurring sporadically.

ClinicalTrials.gov provides valuable resources for patients and their families, offering information about ongoing research studies and clinical trials. This platform has a catalog of additional testing and scientific studies that can help further understand the causes and frequency of ACD/MPV. In addition, it provides links to other resources, such as OMIM and PubMed, where more scientific information can be found on this condition.

One of the research studies registered on clinicaltrialsgov aims to identify the specific genetic variations and mutations that contribute to the development of ACD/MPV. This study is being conducted at various research centers across the globe, and its findings will contribute to a better understanding of this rare condition.

Advocacy organizations and patient support groups play a crucial role in raising awareness about ACD/MPV and supporting affected individuals and their families. They provide information and resources to help patients navigate their journey, including information about clinical trials, genetic testing, and potential treatment options.

Overall, research studies conducted by clinicaltrialsgov have shed light on the genetic and molecular mechanisms underlying ACD/MPV. These studies have provided important insights into the pathogenesis of this condition and may have implications for the development of targeted treatments in the future.

Catalog of Genes and Diseases from OMIM

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare genetic condition characterized by abnormal development of the alveolar capillary vessels within the lungs. This condition affects the tiny blood vessels that surround the air sacs (alveoli) in the lungs, making it difficult for oxygen to pass from the air sacs into the bloodstream and for carbon dioxide to be expelled.

ACDMPV is caused by mutations in the FOXF1 gene, which is located on chromosome 16. These mutations can be inherited from a parent or can occur spontaneously. In addition to mutations in the FOXF1 gene, other genetic and environmental factors may also contribute to the development of ACDMPV, although these factors have yet to be fully understood.

Individuals with ACDMPV often present with severe respiratory distress and require intensive medical intervention shortly after birth. The persistent respiratory failure in these individuals is often associated with other congenital malformations, such as misalignment of the pulmonary veins.

Although ACDMPV is a rare condition, there are resources available to support patients and families affected by this genetic disorder. The OMIM catalog provides information on the genes and diseases associated with ACDMPV, including clinical trials, scientific articles, and additional references.

Scientific Articles on PubMed

Dysplasia is a condition characterized by abnormal development of certain tissues or organs in the body. Alveolar capillary dysplasia with misalignment of pulmonary veins is a rare genetic disorder that affects the development of the lungs and the circulatory system.

More information about this condition can be found on various scientific articles available on PubMed. PubMed is a database of scientific articles related to medical and health research. It provides access to a wide range of publications, including clinical trials, research articles, and case reports.

On PubMed, you can learn about the genetic causes of alveolar capillary dysplasia with misalignment of pulmonary veins and other related diseases. There are also articles that discuss the clinical features and symptoms of this condition, as well as the available diagnostic testing methods.

One of the important features of PubMed is that it provides support for searching articles by specific keywords. For instance, you can search for articles related to alveolar capillary dysplasia with misalignment of pulmonary veins by using keywords such as “alveolar capillary dysplasia,” “pulmonary veins,” or “misalignment of pulmonary veins.”

Within each article, you can find more information about the genetic basis of this condition. Researchers have identified several genes associated with alveolar capillary dysplasia with misalignment of pulmonary veins, including the FOXF1 gene. Mutations in these genes can disrupt the development of the lung and the bloodstream.

Additional information about this condition can also be found on other resources such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov. These resources provide detailed information about the frequency of alveolar capillary dysplasia with misalignment of pulmonary veins and the inheritance patterns associated with this condition.

In summary, PubMed and other scientific articles provide a wealth of information about alveolar capillary dysplasia with misalignment of pulmonary veins. These resources can help researchers, healthcare professionals, and patients learn more about the causes, clinical features, diagnostic testing, and management of this rare genetic disorder.

References

• Malformations of the pulmonary vessels. Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. (n.d.). In Online Mendelian Inheritance in Man (OMIM). Available at: https://omim.org/entry/265380. Accessed December 15, 2021.
• Alveolar capillary dysplasia: Additional names. (n.d.). In National Center for Advancing Translational Sciences – Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/5740/alveolar-capillary-dysplasia. Accessed December 15, 2021.
• Alveolar capillary dysplasia. (n.d.). In GARD – Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/5740/alveolar-capillary-dysplasia/resources/1. Accessed December 15, 2021.
• Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. (n.d.). In Orphanet Rare Disease Registries. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=519260. Accessed December 15, 2021.
• Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. (n.d.). In PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=Alveolar+Capillary+Dysplasia+with+Misalignment+of+Pulmonary+Veins. Accessed December 15, 2021.
• Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). (n.d.). Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. Available at: https://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?name=CAPILLARY-ALVEOLAR%20DYSPLASIA%20WITH%20MISALIGNMENT%20OF%20PULMONARY%20VEINS%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20&key=607196&opr=7. Accessed December 15, 2021.
• Tekesin, et al. Alveolar capillary dysplasia with misalignment of pulmonary veins in a patient with a sibling with no cardiac malformation. Genet Couns. 2021;32(2):1524-1528.
• Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. (n.d.) In ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/results?term=Alveolar+Capillary+Dysplasia+with+Misalignment+of+Pulmonary+Veins. Accessed December 15, 2021.
• Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. (n.d.). In GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK7050/. Accessed December 15, 2021.
• Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV). (n.d.). In Alveolar Capillary Dysplasia Association. Available at: https://acdassociation.org/. Accessed December 15, 2021.