Materiały źródłowe

• #1 Progeria – Allied Medical Training

  https://alliedmedtraining.com/progeria/

  The concept of accelerated aging sounds like it belongs in movies, but there is a rare and fatal condition that is recognized by its main symptom: accelerated aging in young children. Hutchinson-Gilford Progeria Syndrome (also called Progeria or HGPS) was first written about in England in the nineteenth century by Dr. Jonathan Hutchinson and Dr. Hastings Gilford. This condition is genetic, and is caused by a mutation in the gene LMNA, which produces Lamin A protein, forming the structure that holds the cell nucleus together. When these proteins are not functioning properly (specifically the protein called progerin), the nucleus of the cell becomes unstable and leads to the premature aging process. A baby that has progeria is born with normal features, but the accelerated aging becomes apparent during the first year of life. Most children diagnosed with progeria only live to be about 13 years old, due to heart problems or strokes (typically associated with aging). Some can live up to 20 years. While progeria is based in the genes, it is not hereditary, happens very rarely (about one in four million babies have it), and almost always just by a chance occurrence. Another two conditions also considered progeroid syndromes that cause rapid aging are Wiedemann-Rautenstrauch syndrome (with rapid aging starting in the womb) and Werner syndrome (rapid aging begins as a young adult), and both of these conditions do run in families.

• #2 Progeria – Allied Medical Training

  https://alliedmedtraining.com/progeria/

  The concept of accelerated aging sounds like it belongs in movies, but there is a rare and fatal condition that is recognized by its main symptom: accelerated aging in young children. Hutchinson-Gilford Progeria Syndrome (also called Progeria or HGPS) was first written about in England in the nineteenth century by Dr. Jonathan Hutchinson and Dr. Hastings Gilford. This condition is genetic, and is caused by a mutation in the gene LMNA, which produces Lamin A protein, forming the structure that holds the cell nucleus together. When these proteins are not functioning properly (specifically the protein called progerin), the nucleus of the cell becomes unstable and leads to the premature aging process. A baby that has progeria is born with normal features, but the accelerated aging becomes apparent during the first year of life. Most children diagnosed with progeria only live to be about 13 years old, due to heart problems or strokes (typically associated with aging). Some can live up to 20 years. While progeria is based in the genes, it is not hereditary, happens very rarely (about one in four million babies have it), and almost always just by a chance occurrence. Another two conditions also considered progeroid syndromes that cause rapid aging are Wiedemann-Rautenstrauch syndrome (with rapid aging starting in the womb) and Werner syndrome (rapid aging begins as a young adult), and both of these conditions do run in families.

• #3 Progeria – Allied Medical Training

  https://alliedmedtraining.com/progeria/

  The concept of accelerated aging sounds like it belongs in movies, but there is a rare and fatal condition that is recognized by its main symptom: accelerated aging in young children. Hutchinson-Gilford Progeria Syndrome (also called Progeria or HGPS) was first written about in England in the nineteenth century by Dr. Jonathan Hutchinson and Dr. Hastings Gilford. This condition is genetic, and is caused by a mutation in the gene LMNA, which produces Lamin A protein, forming the structure that holds the cell nucleus together. When these proteins are not functioning properly (specifically the protein called progerin), the nucleus of the cell becomes unstable and leads to the premature aging process. A baby that has progeria is born with normal features, but the accelerated aging becomes apparent during the first year of life. Most children diagnosed with progeria only live to be about 13 years old, due to heart problems or strokes (typically associated with aging). Some can live up to 20 years. While progeria is based in the genes, it is not hereditary, happens very rarely (about one in four million babies have it), and almost always just by a chance occurrence. Another two conditions also considered progeroid syndromes that cause rapid aging are Wiedemann-Rautenstrauch syndrome (with rapid aging starting in the womb) and Werner syndrome (rapid aging begins as a young adult), and both of these conditions do run in families.

• #4 Children living with progeria – MedCrave online

  https://medcraveonline.com/NCOAJ/children-living-with-progeria.html

  Progeria is a rare genetic condition characterized by an accelerated aging in children. Objective of this article is to present an over view regarding the identification and management of children living with Progeria. […] Progeria affects growth and development of children but it doesnt affect intelligence. […] Some children receive treatment includes growth hormone, physical and occupational therapy and also medication to prevent heart attacks and stroke. […] Make sure children with Progeria stays well-hydrated; children are more probably to get dehydrated. […] Provide small, frequent meals; growth and nutrition can be an issue for children with Progeria, giving small meals more often can help to increase calorie intake. […] Progeria does not affect mental development but intelligence tends to be average or above average.

• #5 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Joint stiffness, joint pain, and osteoarthritis are common in children with progeria, especially in the hips, knees, ankles, and feet. […] Children with progeria should have yearly eye exams with an ophthalmologist. […] Your childs hearing should be tested routinely. […] Dental care should begin at age 1, to monitor common dental conditions, including: […] Children with progeria are susceptible to dry, itchy skin. […] Children with progeria have age-appropriate social and intellectual functioning. […] Children with progeria have difficulty gaining weight. […] Some children with progeria may benefit from walkers and mobility devices to maintain their independence. […] Families of children with progeria may struggle with people staring at their child, even if the child is too young to be aware.

• #6 patient handbook | The Progeria Research Foundation

  https://www.progeriaresearch.org/patient-care-and-handbook/

  Because most medical caretakers have never treated a child with Progeria, there are often questions about how to optimize quality of life through daily care and medical treatment. To answer that need, in April 2010, PRF published the first edition of The Progeria Clinical Care Handbook, for families touched by Progeria and their doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, this 131-page handbook helps answer many questions for children with Progeria throughout the world. […] In March 2019, PRF updated and edited every section of the first edition of the handbook. Some of the biggest changes to the second edition include a new section on genetics and genetic counseling for the health professional, and a plethora of new information from recent clinical studies stemming from the Progeria research community, including new cardiovascular, neurovascular and endocrine information as well as recommendations.

• #7 patient handbook | The Progeria Research Foundation

  https://www.progeriaresearch.org/patient-care-and-handbook/

  Because most medical caretakers have never treated a child with Progeria, there are often questions about how to optimize quality of life through daily care and medical treatment. To answer that need, in April 2010, PRF published the first edition of The Progeria Clinical Care Handbook, for families touched by Progeria and their doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, this 131-page handbook helps answer many questions for children with Progeria throughout the world. […] In March 2019, PRF updated and edited every section of the first edition of the handbook. Some of the biggest changes to the second edition include a new section on genetics and genetic counseling for the health professional, and a plethora of new information from recent clinical studies stemming from the Progeria research community, including new cardiovascular, neurovascular and endocrine information as well as recommendations.

• #8 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. […] There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition. […] Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. […] Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating. […] A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. […] Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

• #9 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Children with progeria are at risk for heart attacks, strokes, and transient ischemic attacks (mini strokes). Go to an emergency department immediately if your child: […] Based on several clinical trials conducted at Boston Childrens Hospital, the U.S. Food and Drug Administration (FDA) has approved the first treatment, lonafarnib (Zokinvy), for most children with progeria 12 months of age and older. It is currently the only approved drug that treats progerias root cause. […] Because of their increased cardiovascular risk, children with progeria should be monitored by a cardiologist and receive annual blood pressure, cholesterol, and heart function tests, including an electrocardiogram and echocardiogram (cardiac ultrasound). […] For more information on caring for children with progeria, the Progeria Research Foundation provides a detailed handbook with information for both clinicians and families.

• #10 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Joint stiffness, joint pain, and osteoarthritis are common in children with progeria, especially in the hips, knees, ankles, and feet. […] Children with progeria should have yearly eye exams with an ophthalmologist. […] Your childs hearing should be tested routinely. […] Dental care should begin at age 1, to monitor common dental conditions, including: […] Children with progeria are susceptible to dry, itchy skin. […] Children with progeria have age-appropriate social and intellectual functioning. […] Children with progeria have difficulty gaining weight. […] Some children with progeria may benefit from walkers and mobility devices to maintain their independence. […] Families of children with progeria may struggle with people staring at their child, even if the child is too young to be aware.

• #11 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Children with progeria are at risk for heart attacks, strokes, and transient ischemic attacks (mini strokes). Go to an emergency department immediately if your child: […] Based on several clinical trials conducted at Boston Childrens Hospital, the U.S. Food and Drug Administration (FDA) has approved the first treatment, lonafarnib (Zokinvy), for most children with progeria 12 months of age and older. It is currently the only approved drug that treats progerias root cause. […] Because of their increased cardiovascular risk, children with progeria should be monitored by a cardiologist and receive annual blood pressure, cholesterol, and heart function tests, including an electrocardiogram and echocardiogram (cardiac ultrasound). […] For more information on caring for children with progeria, the Progeria Research Foundation provides a detailed handbook with information for both clinicians and families.

• #12 ZOKINVY (lonafarnib), the only FDA Approved Treatment for Hutchinson-Gilford Progeria Syndrome, Now Exclusively Available at Biologics by McKesson – Biologics by McKesson

  https://biologics.mckesson.com/zokinvy-lonafarnib-the-only-fda-approved-treatment-for-hutchinson-gilford-progeria-syndrome-now-exclusively-available-at-biologics-by-mckesson/

  ZOKINVY is approved by the U.S. Food and Drug Administration (FDA) in patients 12 months of age and older with a body surface area of 0.39 m² and above to reduce risk of mortality in Hutchinson-Gilford Progeria Syndrome and for the treatment of processing-deficient Progeroid Laminopathies with either Heterozygous LMNA mutation with progerin-like protein accumulation or homozygous or compound heterozygous ZMPSTE24 mutations. […] Hutchinson-Gilford Progeria Syndrome is an ultra-rare disease that causes premature aging and mortality in children. […] Sentynl is implementing this exclusive relationship with Biologics to ensure patients who are prescribed ZOKINVY in the United States receive the prompt intervention and management necessary to optimize their treatment. […] Biologics by McKesson is committed to and recognized for its level of customer service as well as its innovative, high-touch, and multidisciplinary approach. Putting patients first in all they do, each team includes pharmacists with in-depth knowledge of therapies, experienced nurses, and financial counselors who are familiar with various financial assistance programs and organizations that help patients.

• #13 FDA approves the first drug for progeria, a rapid-aging disease | Science News

  https://www.sciencenews.org/article/fda-approved-first-drug-treat-rapid-aging-disease-progeria

  The U.S. Food and Drug Administration has approved a treatment that could give children with a rare genetic illness that causes premature aging more time to live. […] The newly approved drug, called Zokinvy, is the first and only approved treatment for progeria and certain related syndromes, the FDA announced November 20. […] This is not a cure, cautions Monica Kleinman, a pediatric critical care doctor at Boston Childrens Hospital who was involved with the clinical trials. […] Zokinvy, made by the company Eiger BioPharmaceuticals of Palo Alto, Calif., blocks some of that progerin production, lowering the amount that accumulates in kids cells. […] With the new drug approval, the focus is now to test additional drugs or therapeutics in combination with Zokinvy, Misteli says. That could help lengthen the lives of children with progeria even further. Researchers are also investigating gene therapy approaches, with the goal of fixing the mutation that causes the debilitating illness.

• #14 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. […] There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition. […] Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. […] Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating. […] A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. […] Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

• #15 Short stature

  https://adamcertificationdemo.adam.com/content.aspx?productid=142&pid=1&gid=001657

  Progeria is a rare genetic condition that produces rapid aging in children. […] There is no specific treatment for progeria. Aspirin and statin medicines may be used to protect against a heart attack or stroke. […] More information and support for people with Progeria and their families can be found at: Progeria Research Foundation, Inc. — www.progeriaresearch.org. […] Contact your provider if your child does not appear to be growing or developing normally.

• #16 Progeria – Allied Medical Training

  https://alliedmedtraining.com/progeria/

  Typically, a doctor will begin to suspect progeria at an appointment with the baby/child due to the physical signs and symptoms associated with the condition. There is a genetic test that identifies LMNA mutations, which will confirm the diagnosis after a physical exam looking for signs and symptoms, checking vitals, measuring height/weight, and checking hearing and vision. Unfortunately, there is no cure for progeria. There are only treatments to ease the signs and symptoms: taking aspirin every day to lower risk of heart attacks and stroke, medications to lower blood pressure/cholesterol and prevent clots, physical therapy to help with joint stiffness and keeping up the child’s activity level, and ongoing dental care. Lifestyle treatments include a carefully monitored diet to ensure proper calorie amount and nutrition for health, along with adequate hydration. Sunscreen is highly recommended when any time is spent in the sun to protect the fragile skin. Often shoe pads are recommended due to the lack of body fat causing discomfort. Researchers are currently working to better understand genes and how progeria progresses in order to find better treatments, and researching if certain cancer treatments could help treat progeria.

• #17 US FDA Authorizes Launch of Clinical Trial to Support New Treatment Development for Progeria – BioSpace

  https://www.biospace.com/fda/us-fda-authorizes-launch-of-clinical-trial-to-support-new-treatment-development-for-progeria

  The United States Food and Drug Administration (FDA) has authorized the start of patient enrollment for a Phase 2a clinical trial of Progerinin, an investigational drug being developed for the treatment of Progeria. […] Progerinin will be administered in combination with the current standard-of-care, Zokinvy, to 10 patients with Progeria and Progeroid Laminopathies (PL) who are one year of age and older. […] „Patients with Progeria and their families deserve more options,” said Dr. Kush Dhody, President, Amarex Clinical Research. „This is an especially devastating diagnosis given the shortened lifespan it causes. We’re honored to support a study that brings more hope to these patients.” […] PRF is the only non-profit organization solely dedicated to finding treatments and the cure for Progeria and its aging-related conditions, including heart disease.

• #18 Maryland Today | UMD-led Study Could Lead to Lengthened Lives for…

  https://today.umd.edu/umd-led-study-could-lead-to-lengthened-lives-for-patients-with-premature-aging-disease

  UMD researchers found that adding a protein to cells that line blood vessels might be able to improve the cardiovascular health of people with the disease progeria, which causes accelerated aging and death from heart attack or stroke when those afflicted with the disease are teenagers. […] This could pave the way for new treatments targeting cardiovascular complications in HGPS, which are currently a major cause of mortality in the affected children, Vakili said. […] Current treatments for HGPS can help reduce the risk of fatal complications like heart attack and stroke, but they do not target the underlying disease. Cao explained that her labs research is unlikely to offer a definitive progeria cure, but it could buy patients more time by improving their health in other ways. […] Ang2 treatment also improves endothelial cell signaling to vascular smooth muscle cells, suggesting it could be a potential therapy for vascular dysfunctions in HGPS, Vakili said.

• #19 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. […] There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition. […] Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. […] Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating. […] A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. […] Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

• #20 Hutchinson-Gilford Progeria Syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/20301300/

  Routine treatment for bone fractures; physical and occupational therapy to maintain joint mobility, active stretching and strengthening exercises, and hydrotherapy. […] Genetic counseling: HGPS is an autosomal dominant disorder. Ninety-eight percent of individuals with HGPS have the disorder as the result of a de novo LMNA pathogenic variant.

• #21 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. […] There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition. […] Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. […] Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating. […] A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. […] Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

• #22 Children living with progeria – MedCrave online

  https://medcraveonline.com/NCOAJ/children-living-with-progeria.html

  Progeria is a rare genetic condition characterized by an accelerated aging in children. Objective of this article is to present an over view regarding the identification and management of children living with Progeria. […] Progeria affects growth and development of children but it doesnt affect intelligence. […] Some children receive treatment includes growth hormone, physical and occupational therapy and also medication to prevent heart attacks and stroke. […] Make sure children with Progeria stays well-hydrated; children are more probably to get dehydrated. […] Provide small, frequent meals; growth and nutrition can be an issue for children with Progeria, giving small meals more often can help to increase calorie intake. […] Progeria does not affect mental development but intelligence tends to be average or above average.

• #23 Hutchinson-Gilford Progeria Syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/20301300/

  Clinical characteristics: Hutchinson-Gilford progeria syndrome (HGPS) is characterized in the first year of life by growth deficiency, lagophthalmos, hair loss, delayed and incomplete primary tooth eruption, subcutaneous fat loss, and areas of abnormal skin (tightness, stippling, and/or small outpouchings over the abdomen and upper thighs). […] Management: Targeted therapy: Lonafarnib results in increase in life span presumably due to slowed cardiovascular disease progression that includes improved arterial wall stiffness and carotid-femoral pulse wave velocity. […] Supportive care: Frequent small meals to maximize caloric intake; daily multivitamin; medication dosages are based on body weight or body surface area, not age; shoe pads for foot discomfort; school adaptations for short stature.

• #24 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  The dentist plays a vital role in the medical team for HGPS as there are many traits of the syndrome which are of a dental and/or head and neck origin. Micrognathia is often present. This can lead to overcrowding and a delayed loss of deciduous teeth. […] Oftentimes, a high caries incidence is present in individuals with HGPS. As such, these patients must have frequent recall visits for both a re-examination of the teeth and associated hard and soft tissues of the oral cavity. Oral hygiene instructions must be reviewed at each dental visit with the patient and caregiver. The importance of meticulous oral hygiene must be continuously stressed. The dentist should incorporate fluoride therapies into the preventive protocol for HGPS patients. Of course, there are many fluoride therapies to choose from including fluoride varnishes, selfapplied fluorides (toothpastes, gels, mouth rinses) and professionally applied topical fluorides (higher-strength rinses, gels, foams). It is important to also stress that many bottled waters do not have optimal levels of fluoride.

• #25 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. […] There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition. […] Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. […] Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating. […] A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. […] Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

• #26 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  The dentist plays a vital role in the medical team for HGPS as there are many traits of the syndrome which are of a dental and/or head and neck origin. Micrognathia is often present. This can lead to overcrowding and a delayed loss of deciduous teeth. […] Oftentimes, a high caries incidence is present in individuals with HGPS. As such, these patients must have frequent recall visits for both a re-examination of the teeth and associated hard and soft tissues of the oral cavity. Oral hygiene instructions must be reviewed at each dental visit with the patient and caregiver. The importance of meticulous oral hygiene must be continuously stressed. The dentist should incorporate fluoride therapies into the preventive protocol for HGPS patients. Of course, there are many fluoride therapies to choose from including fluoride varnishes, selfapplied fluorides (toothpastes, gels, mouth rinses) and professionally applied topical fluorides (higher-strength rinses, gels, foams). It is important to also stress that many bottled waters do not have optimal levels of fluoride.

• #27 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  HGPS patients typically experience a delayed eruption of teeth and root development. This is most likely due to the retrognathic position of the maxilla and mandible and insufficient jaw growth. Orthodontic therapy may therefore be indicated as there are no limitations in providing dental treatment to HGPS patients. It might be beneficial for any tooth movement to work in conjunction with an oral surgeon in order to ensure the efficacious and a traumatic removal of any over retained primary teeth which are in need of extraction.

• #28 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  The dentist plays a vital role in the medical team for HGPS as there are many traits of the syndrome which are of a dental and/or head and neck origin. Micrognathia is often present. This can lead to overcrowding and a delayed loss of deciduous teeth. […] Oftentimes, a high caries incidence is present in individuals with HGPS. As such, these patients must have frequent recall visits for both a re-examination of the teeth and associated hard and soft tissues of the oral cavity. Oral hygiene instructions must be reviewed at each dental visit with the patient and caregiver. The importance of meticulous oral hygiene must be continuously stressed. The dentist should incorporate fluoride therapies into the preventive protocol for HGPS patients. Of course, there are many fluoride therapies to choose from including fluoride varnishes, selfapplied fluorides (toothpastes, gels, mouth rinses) and professionally applied topical fluorides (higher-strength rinses, gels, foams). It is important to also stress that many bottled waters do not have optimal levels of fluoride.

• #29 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  The dentist plays a vital role in the medical team for HGPS as there are many traits of the syndrome which are of a dental and/or head and neck origin. Micrognathia is often present. This can lead to overcrowding and a delayed loss of deciduous teeth. […] Oftentimes, a high caries incidence is present in individuals with HGPS. As such, these patients must have frequent recall visits for both a re-examination of the teeth and associated hard and soft tissues of the oral cavity. Oral hygiene instructions must be reviewed at each dental visit with the patient and caregiver. The importance of meticulous oral hygiene must be continuously stressed. The dentist should incorporate fluoride therapies into the preventive protocol for HGPS patients. Of course, there are many fluoride therapies to choose from including fluoride varnishes, selfapplied fluorides (toothpastes, gels, mouth rinses) and professionally applied topical fluorides (higher-strength rinses, gels, foams). It is important to also stress that many bottled waters do not have optimal levels of fluoride.

• #30 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  HGPS patients typically experience a delayed eruption of teeth and root development. This is most likely due to the retrognathic position of the maxilla and mandible and insufficient jaw growth. Orthodontic therapy may therefore be indicated as there are no limitations in providing dental treatment to HGPS patients. It might be beneficial for any tooth movement to work in conjunction with an oral surgeon in order to ensure the efficacious and a traumatic removal of any over retained primary teeth which are in need of extraction.

• #31 Spinal Anesthesia Management in a 30-Year-Old Patient with Progeria Syndrome: A Case Report

  https://brieflands.com/articles/aapm-147344

  Progeria syndrome is a rare genetic disorder resulting in premature aging. […] We describe spinal anesthesia management in a 30-year-old man with progeria syndrome. […] This is the first report on the use of spinal anesthesia in a progeria patient. […] Anesthesia management is challenging for anesthesiologists in progeria patients, particularly regarding airway management. […] Therefore, we chose regional anesthesia to minimize the adverse effects of general anesthesia. […] However, the use of spinal anesthesia in progeria syndrome requires careful consideration, including local anesthetic dose adjustments and close monitoring. […] Based on our experience, spinal anesthesia is safe in progeria patients, provided that caution is taken in choosing the appropriate dose of local anesthetic and patients are carefully monitored. […] Special attention should also be paid to age-related comorbidities.

• #32 Spinal Anesthesia Management in a 30-Year-Old Patient with Progeria Syndrome: A Case Report

  https://brieflands.com/articles/aapm-147344

  Progeria syndrome is a rare genetic disorder resulting in premature aging. […] We describe spinal anesthesia management in a 30-year-old man with progeria syndrome. […] This is the first report on the use of spinal anesthesia in a progeria patient. […] Anesthesia management is challenging for anesthesiologists in progeria patients, particularly regarding airway management. […] Therefore, we chose regional anesthesia to minimize the adverse effects of general anesthesia. […] However, the use of spinal anesthesia in progeria syndrome requires careful consideration, including local anesthetic dose adjustments and close monitoring. […] Based on our experience, spinal anesthesia is safe in progeria patients, provided that caution is taken in choosing the appropriate dose of local anesthetic and patients are carefully monitored. […] Special attention should also be paid to age-related comorbidities.

• #33 Spinal Anesthesia Management in a 30-Year-Old Patient with Progeria Syndrome: A Case Report

  https://brieflands.com/articles/aapm-147344

  Progeria syndrome is a rare genetic disorder resulting in premature aging. […] We describe spinal anesthesia management in a 30-year-old man with progeria syndrome. […] This is the first report on the use of spinal anesthesia in a progeria patient. […] Anesthesia management is challenging for anesthesiologists in progeria patients, particularly regarding airway management. […] Therefore, we chose regional anesthesia to minimize the adverse effects of general anesthesia. […] However, the use of spinal anesthesia in progeria syndrome requires careful consideration, including local anesthetic dose adjustments and close monitoring. […] Based on our experience, spinal anesthesia is safe in progeria patients, provided that caution is taken in choosing the appropriate dose of local anesthetic and patients are carefully monitored. […] Special attention should also be paid to age-related comorbidities.

• #34 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Joint stiffness, joint pain, and osteoarthritis are common in children with progeria, especially in the hips, knees, ankles, and feet. […] Children with progeria should have yearly eye exams with an ophthalmologist. […] Your childs hearing should be tested routinely. […] Dental care should begin at age 1, to monitor common dental conditions, including: […] Children with progeria are susceptible to dry, itchy skin. […] Children with progeria have age-appropriate social and intellectual functioning. […] Children with progeria have difficulty gaining weight. […] Some children with progeria may benefit from walkers and mobility devices to maintain their independence. […] Families of children with progeria may struggle with people staring at their child, even if the child is too young to be aware.

• #35 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Your health care team, family and friends can all be a valuable part of your support network. […] Progeria won’t affect your child’s intellect. Your child can attend school at an age-appropriate level. […] Learning that your child has progeria can be emotionally upsetting. […] Your health care provider is likely to ask you several questions, such as: When did you first notice that something may be wrong?

• #36 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Your health care team, family and friends can all be a valuable part of your support network. […] Progeria won’t affect your child’s intellect. Your child can attend school at an age-appropriate level. […] Learning that your child has progeria can be emotionally upsetting. […] Your health care provider is likely to ask you several questions, such as: When did you first notice that something may be wrong?

• #37 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Joint stiffness, joint pain, and osteoarthritis are common in children with progeria, especially in the hips, knees, ankles, and feet. […] Children with progeria should have yearly eye exams with an ophthalmologist. […] Your childs hearing should be tested routinely. […] Dental care should begin at age 1, to monitor common dental conditions, including: […] Children with progeria are susceptible to dry, itchy skin. […] Children with progeria have age-appropriate social and intellectual functioning. […] Children with progeria have difficulty gaining weight. […] Some children with progeria may benefit from walkers and mobility devices to maintain their independence. […] Families of children with progeria may struggle with people staring at their child, even if the child is too young to be aware.

• #38 Hutchinson-Gilford Progeria Syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/20301300/

  Clinical characteristics: Hutchinson-Gilford progeria syndrome (HGPS) is characterized in the first year of life by growth deficiency, lagophthalmos, hair loss, delayed and incomplete primary tooth eruption, subcutaneous fat loss, and areas of abnormal skin (tightness, stippling, and/or small outpouchings over the abdomen and upper thighs). […] Management: Targeted therapy: Lonafarnib results in increase in life span presumably due to slowed cardiovascular disease progression that includes improved arterial wall stiffness and carotid-femoral pulse wave velocity. […] Supportive care: Frequent small meals to maximize caloric intake; daily multivitamin; medication dosages are based on body weight or body surface area, not age; shoe pads for foot discomfort; school adaptations for short stature.

• #39 Zokinvy Personalized Care from Sentynl Cares | Zokinvy (lonafarnib) Patient

  https://www.zokinvy.com/sentynl-cares

  Sentynl Cares | Zokinvy is staffed with dedicated personnel knowledgable in Progeria and processing-deficient Progeroid Laminopathies (PDPL), offering a dedicated, specialized team focused on the patient’s care. […] Sentynl Cares | Zokinvy provides access to healthcare providers, nurses, pharmacists, reimbursement specialists, appeals specialists, alternate funding, co-pay assistance, and educational materials. […] Your specialized Zokinvy support team can help.

• #40 ZOKINVY (lonafarnib), the only FDA Approved Treatment for Hutchinson-Gilford Progeria Syndrome, Now Exclusively Available at Biologics by McKesson – Biologics by McKesson

  https://biologics.mckesson.com/zokinvy-lonafarnib-the-only-fda-approved-treatment-for-hutchinson-gilford-progeria-syndrome-now-exclusively-available-at-biologics-by-mckesson/

  ZOKINVY is approved by the U.S. Food and Drug Administration (FDA) in patients 12 months of age and older with a body surface area of 0.39 m² and above to reduce risk of mortality in Hutchinson-Gilford Progeria Syndrome and for the treatment of processing-deficient Progeroid Laminopathies with either Heterozygous LMNA mutation with progerin-like protein accumulation or homozygous or compound heterozygous ZMPSTE24 mutations. […] Hutchinson-Gilford Progeria Syndrome is an ultra-rare disease that causes premature aging and mortality in children. […] Sentynl is implementing this exclusive relationship with Biologics to ensure patients who are prescribed ZOKINVY in the United States receive the prompt intervention and management necessary to optimize their treatment. […] Biologics by McKesson is committed to and recognized for its level of customer service as well as its innovative, high-touch, and multidisciplinary approach. Putting patients first in all they do, each team includes pharmacists with in-depth knowledge of therapies, experienced nurses, and financial counselors who are familiar with various financial assistance programs and organizations that help patients.

• #41 US FDA Authorizes Launch of Clinical Trial to Support New Treatment Development for Progeria – BioSpace

  https://www.biospace.com/fda/us-fda-authorizes-launch-of-clinical-trial-to-support-new-treatment-development-for-progeria

  The United States Food and Drug Administration (FDA) has authorized the start of patient enrollment for a Phase 2a clinical trial of Progerinin, an investigational drug being developed for the treatment of Progeria. […] Progerinin will be administered in combination with the current standard-of-care, Zokinvy, to 10 patients with Progeria and Progeroid Laminopathies (PL) who are one year of age and older. […] „Patients with Progeria and their families deserve more options,” said Dr. Kush Dhody, President, Amarex Clinical Research. „This is an especially devastating diagnosis given the shortened lifespan it causes. We’re honored to support a study that brings more hope to these patients.” […] PRF is the only non-profit organization solely dedicated to finding treatments and the cure for Progeria and its aging-related conditions, including heart disease.

• #42 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  The Progeria Research Foundation (PRF) has spearheaded many research studies on progeria and hosts an International Patient Registry that is providing insights on the natural course of progeria over time. […] In partnership with the Progeria Research Foundation, Boston Childrens has hosted multiple clinical trials of lonafarnib, drawing children from all over the world. […] The Department of Cardiology at the Benderson Family Heart Center is the largest pediatric cardiology center in the United States and one of the most specialized in the world.

• #43 Progeria – Allied Medical Training

  https://alliedmedtraining.com/progeria/

  Typically, a doctor will begin to suspect progeria at an appointment with the baby/child due to the physical signs and symptoms associated with the condition. There is a genetic test that identifies LMNA mutations, which will confirm the diagnosis after a physical exam looking for signs and symptoms, checking vitals, measuring height/weight, and checking hearing and vision. Unfortunately, there is no cure for progeria. There are only treatments to ease the signs and symptoms: taking aspirin every day to lower risk of heart attacks and stroke, medications to lower blood pressure/cholesterol and prevent clots, physical therapy to help with joint stiffness and keeping up the child’s activity level, and ongoing dental care. Lifestyle treatments include a carefully monitored diet to ensure proper calorie amount and nutrition for health, along with adequate hydration. Sunscreen is highly recommended when any time is spent in the sun to protect the fragile skin. Often shoe pads are recommended due to the lack of body fat causing discomfort. Researchers are currently working to better understand genes and how progeria progresses in order to find better treatments, and researching if certain cancer treatments could help treat progeria.

• #44 FDA approves the first drug for progeria, a rapid-aging disease | Science News

  https://www.sciencenews.org/article/fda-approved-first-drug-treat-rapid-aging-disease-progeria

  The U.S. Food and Drug Administration has approved a treatment that could give children with a rare genetic illness that causes premature aging more time to live. […] The newly approved drug, called Zokinvy, is the first and only approved treatment for progeria and certain related syndromes, the FDA announced November 20. […] This is not a cure, cautions Monica Kleinman, a pediatric critical care doctor at Boston Childrens Hospital who was involved with the clinical trials. […] Zokinvy, made by the company Eiger BioPharmaceuticals of Palo Alto, Calif., blocks some of that progerin production, lowering the amount that accumulates in kids cells. […] With the new drug approval, the focus is now to test additional drugs or therapeutics in combination with Zokinvy, Misteli says. That could help lengthen the lives of children with progeria even further. Researchers are also investigating gene therapy approaches, with the goal of fixing the mutation that causes the debilitating illness.

• #45 What is Hutchinson-Gilford Progeria Syndrome

  https://www.bhampharma.com/hutchinson-gilford-progeria-syndrome-a-rare-disorder-that-accelerates-ageing

  While the breakthrough treatment has been proven effective in improving symptoms and increasing the lifespan of children with HGPS, it comes with a significant cost, making it inaccessible for many, with an annual expense reaching up to $1.2 million for some patients. However, there is hope on the horizon, as Progeria Research Foundation has actively funded research projects worldwide, providing over $9.3 million in support. Research is ongoing to develop more affordable and effective treatments that can further enhance their quality of life, extend their longevity, and ultimately lead to a cure for the disease. […] A sustained commitment to providing continuous funding and resources for research initiatives is vital to effectively address HGPS, as it creates more opportunities for conducting clinical trials and developing evidence-based interventions. Collaborative efforts among researchers, healthcare professionals, patient advocacy groups, and affected families are also crucial in sharing knowledge and accelerating progress. These combined efforts will help toward reaching a cure and improving the quality of life for individuals suffering from the disease.

• #46 What is Hutchinson-Gilford Progeria Syndrome

  https://www.bhampharma.com/hutchinson-gilford-progeria-syndrome-a-rare-disorder-that-accelerates-ageing

  While the breakthrough treatment has been proven effective in improving symptoms and increasing the lifespan of children with HGPS, it comes with a significant cost, making it inaccessible for many, with an annual expense reaching up to $1.2 million for some patients. However, there is hope on the horizon, as Progeria Research Foundation has actively funded research projects worldwide, providing over $9.3 million in support. Research is ongoing to develop more affordable and effective treatments that can further enhance their quality of life, extend their longevity, and ultimately lead to a cure for the disease. […] A sustained commitment to providing continuous funding and resources for research initiatives is vital to effectively address HGPS, as it creates more opportunities for conducting clinical trials and developing evidence-based interventions. Collaborative efforts among researchers, healthcare professionals, patient advocacy groups, and affected families are also crucial in sharing knowledge and accelerating progress. These combined efforts will help toward reaching a cure and improving the quality of life for individuals suffering from the disease.

• #47 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Children with progeria are at risk for heart attacks, strokes, and transient ischemic attacks (mini strokes). Go to an emergency department immediately if your child: […] Based on several clinical trials conducted at Boston Childrens Hospital, the U.S. Food and Drug Administration (FDA) has approved the first treatment, lonafarnib (Zokinvy), for most children with progeria 12 months of age and older. It is currently the only approved drug that treats progerias root cause. […] Because of their increased cardiovascular risk, children with progeria should be monitored by a cardiologist and receive annual blood pressure, cholesterol, and heart function tests, including an electrocardiogram and echocardiogram (cardiac ultrasound). […] For more information on caring for children with progeria, the Progeria Research Foundation provides a detailed handbook with information for both clinicians and families.

• #48 Progeria – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043

  Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. […] There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition. […] Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. […] Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating. […] A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. […] Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

• #49 Progeria – Diagnosis, Complications And Treatment

  https://parenting.firstcry.com/articles/progeria-causes-symptoms-treatment-and-more/

  While there is no cure for the condition, proper medication and care can alleviate the symptoms of the condition and also delay the progression of the condition further. […] Progeria syndrome is a disorder that has no cure currently. However, with proper care and treatment, the symptoms can be put off to a certain extent, helping the kids live a considerably longer life. […] If your child has this condition, the best way to go about his or her care is to ensure that all the treatments are administered on time and regular visits to the doctor are made to rule out any immediate complications.

• #50 Short stature

  https://adamcertificationdemo.adam.com/content.aspx?productid=142&pid=1&gid=001657

  Progeria is a rare genetic condition that produces rapid aging in children. […] There is no specific treatment for progeria. Aspirin and statin medicines may be used to protect against a heart attack or stroke. […] More information and support for people with Progeria and their families can be found at: Progeria Research Foundation, Inc. — www.progeriaresearch.org. […] Contact your provider if your child does not appear to be growing or developing normally.

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