Can Genetic Testing Confirm Citrullinemia Type 1 in My Child?
Can the mutation point for argininemia be identified? Can I confirm if my child has a chromosomal abnormality through genetic testing after being diagnosed with Citrullinemia Type I, or are there other methods for diagnosis? Thank you!
Dr. Jian Yingxiu reply Rare Disease
Diagnosis of Citrullinemia Type I can be confirmed through genetic testing or enzyme analysis. These tests are not covered by health insurance. Please consult your physician for further testing options.[Read More] Can Genetic Testing Confirm Citrullinemia Type 1 in My Child?
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Osteogenesis imperfecta Dear Dr. Jian, I would like to inform you that my twins were born on March 20. Upon birth, they were found to have a tendency to fracture easily. An X-ray examination revealed multiple fractures in both babies, and they exhibit the same symptoms. They hav...
Dr. Jian Yingxiu reply Rare Disease
If the patient is a "glass child," bisphosphonate medications used for osteoporosis may be considered to increase bone density and reduce the frequency of fractures. However, there is a potential risk of hypocalcemia as a complication, so the timing of use should be tho...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Are Rare Diseases Always Genetic? Understanding Risks and Testing Options
Are rare diseases genetic disorders? Dear Doctor, are all rare diseases caused by genetic factors? I am currently planning to have children and would like to inquire about what tests can be done. I have read many websites and feel quite anxious.
Dr. Jian Yingxiu reply Rare Disease
Rare diseases are not necessarily caused by genetic factors. It is recommended that you and your partner visit a nearby medical center for genetic counseling, where a physician can assess your family health history and provide a list of tests that you can undergo. Thank you.[Read More] Are Rare Diseases Always Genetic? Understanding Risks and Testing Options
Understanding Wilson's Disease: Causes and Interaction Tips for Caregivers
Wilson's disease Wilson's disease is caused by a genetic mutation that leads to excessive accumulation of copper in the body, particularly affecting the liver and brain. This condition is inherited in an autosomal recessive manner, meaning that a child must inherit two ...
Dr. Jian Yingxiu reply Rare Disease
Wilson's disease is caused by abnormal copper ion metabolism in the body, leading to liver and brain damage. Currently, it can be managed with medication and a low-copper diet. Please confirm your diagnosis and treatment plan with your physician. Thank you.[Read More] Understanding Wilson's Disease: Causes and Interaction Tips for Caregivers
Understanding De Novo Reciprocal Translocation: Implications for Fetal Health
46,XY,t(3;6)(p25;p25) de novo Interpretation: Chromosome analysis of 21 cells cultured from amniotic fluid showed a male karyotype with a reciprocal translocation between chromosome 3 and chromosome 6. The breakpoints were identified at 3p25 and 6p25. The translocation appeared t...
Dr. Jian Yingxiu reply Rare Disease
Hello: According to the text, the karyotype analysis did not show any significant increase or decrease in chromosomes. However, since there are chromosomal variations, literature reports suggest there may be a 6-7% chance of associated abnormalities. May I ask what the current ge...[Read More] Understanding De Novo Reciprocal Translocation: Implications for Fetal Health
Exploring New Insights on 11q23 Chromosome Deletion Cases
Are there any cases available for inquiry regarding the deletion of the 11q23 chromosome region? Zhen was born 7 years ago and was diagnosed with a partial deletion of chromosome 11q23 at National Taiwan University Hospital. At that time, there was insufficient literature or symp...
Dr. Jian Yingxiu reply Rare Disease
Hello, Ms. Zhen: Based on the literature you have searched, the clinical manifestations associated with the deletion of chromosome 11q23 (also known as Jacobsen syndrome) may include the following for your reference. It is recommended to regularly monitor platelet counts through...[Read More] Exploring New Insights on 11q23 Chromosome Deletion Cases
Exploring the Link Between Motor Neuron Degeneration and Post-Polio Syndrome
The relationship between motor neuron degeneration and post-polio syndrome? Dear Dr. Jian, I have the following questions and would appreciate your guidance: At the age of three, I experienced atrophy and weakness in my left lower limb due to poliomyelitis and have never recei...
Dr. Jian Yingxiu reply Rare Disease
MND or ALS should be discussed with a neurologist. Currently, certain diseases can be diagnosed through genetic testing, so you may want to consult your neurologist about this. However, your previous cervical spine issues may also contribute to these symptoms, so it is essential ...[Read More] Exploring the Link Between Motor Neuron Degeneration and Post-Polio Syndrome
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Department of Genetic Medicine Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 unt...
Dr. Jian Yingxiu reply Rare Disease
Your condition may be due to other causes of osteoporosis leading to increased fracture risk, such as atypical osteogenesis imperfecta type I or type IV. Please consult your physician regarding relevant tests for OI to confirm the diagnosis.[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Understanding Neurofibromas and Their Impact on Scoliosis Treatment
Neurofibromas compressing scoliosis? Dear Dr. Jian, I recently took my son to see an orthopedic specialist due to his complaints of back pain. An MRI revealed that he has scoliosis caused by a neurofibroma pressing on his spine. Could you please advise me on which authorities an...
Dr. Jian Yingxiu reply Rare Disease
After surgery, neurofibromas may regrow, so please consider this carefully before proceeding. Scoliosis does not always require surgery; please discuss the necessity of surgery with your trusted physician. Thank you.[Read More] Understanding Neurofibromas and Their Impact on Scoliosis Treatment
Where to Get DNA Kinship Testing for Rare Diseases?
DNA paternity testing? Where can I perform a DNA kinship test? I need to determine blood relations, not just parent-child relationships. It should be able to test the X chromosome. Thank you! Email: [email protected]
Dr. Jian Yingxiu reply Rare Disease
Please contact institutions that can perform paternity testing and request a kinship analysis.[Read More] Where to Get DNA Kinship Testing for Rare Diseases?
Understanding Granulomatous Tissue Proliferation: Symptoms, Treatment, and Research in Taiwan
Granulomatous tissue hyperplasia What is granulomatous tissue hyperplasia? What are its symptoms? Are there any physicians in Taiwan who have conducted in-depth research on this condition? Which department should one consult? Are there any images available for reference? Will the...
Dr. Jian Yingxiu reply Rare Disease
Please schedule an appointment with a pediatric hematology-oncology specialist.[Read More] Understanding Granulomatous Tissue Proliferation: Symptoms, Treatment, and Research in Taiwan
Understanding Albinism: Genetic Risks and Disability Benefits Explained
Individuals with albinism Hello, Dr. Jian... My mother is an albinism patient, and she has nine children, three of whom are albino. However, my mother mentioned that there hasn't been any history of this condition in their ancestry. She often expresses relief that neither my...
Dr. Jian Yingxiu reply Rare Disease
Referral to relevant patient support groups has been made. Thank you.[Read More] Understanding Albinism: Genetic Risks and Disability Benefits Explained
Understanding Keratosis: Types, Inheritance, and Treatment Options
Keratosis Hello, Doctor: I would like to ask what types of keratosis exist. I know that my fiancé has thick calluses on his hands and feet, especially severe on the soles of his feet. He often uses a large utility knife to remove those calluses. His mobility is not very agile, an...
Dr. Jian Yingxiu reply Rare Disease
Keratosis can be classified based on its location and the extent of its impact (whether localized or widespread). Some forms of keratosis may have a familial inheritance pattern, while others may arise from individual mutations. The specific genetic pattern needs to be determined...[Read More] Understanding Keratosis: Types, Inheritance, and Treatment Options
Understanding Moyamoya Disease: Rare Condition and Disability Benefits
Moyamoya disease I would like to ask if hairy vascular malformations are considered a rare disease? Can one apply for a major illness certificate or a disability card? I have surgery scheduled on the 18th, so I would like to know... Thank you!
Dr. Jian Yingxiu reply Rare Disease
Moyamoya disease is not classified as a rare disease by the government.[Read More] Understanding Moyamoya Disease: Rare Condition and Disability Benefits
Seeking Specialists for Osteogenesis Imperfecta in Central Taiwan
Rare genetic disorders I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in the northern part of Taiwan, taking calcium supplements and bisphosphonate medications, and monitoring her previous surgeries. Traveling north for...
Dr. Jian Yingxiu reply Rare Disease
You can visit the outpatient clinics at China Medical University Hospital or other genetic counseling centers in central Taiwan.[Read More] Seeking Specialists for Osteogenesis Imperfecta in Central Taiwan
Can Cord Blood Stem Cells Treat Genetic Metabolic Disorders?
Stem cells in umbilical cord blood can be used to treat various genetic disorders? Hello: Can stem cells from umbilical cord blood currently be used to treat congenital metabolic genetic disorders? For example, metabolic genetic disorders like phenylketonuria or citrullinemia, wh...
Dr. Jian Yingxiu reply Rare Disease
Currently, these metabolic disorders are not suitable for umbilical cord blood stem cell transplantation.[Read More] Can Cord Blood Stem Cells Treat Genetic Metabolic Disorders?
Understanding Rare Hair Loss in Children: A Parent's Journey
Alopecia areata Hello Dr. Jian, my child is 10 years old this year. He was hospitalized for pneumonia in April 2005 and received the pneumococcal vaccine at the end of May 2005. By early June, he lost all his body hair. Subsequently, the doctor referred us to the dermatology depa...
Dr. Jian Yingxiu reply Rare Disease
Your question is quite complex and requires consultation with an immunologist. Thank you.[Read More] Understanding Rare Hair Loss in Children: A Parent's Journey
Understanding Addison's Disease: Symptoms, Signs, and Human Impact
Addison's disease I would like to ask about the symptoms and signs of Addison's disease. What are they? Does this only occur in puppies? Can it happen in humans as well? Is there medical evidence for this? Thank you!
Dr. Jian Yingxiu reply Rare Disease
Addison's disease is a condition caused by adrenal insufficiency. For information regarding symptoms, please refer to relevant medical literature. If you suspect you have related symptoms, please consult an internist.[Read More] Understanding Addison's Disease: Symptoms, Signs, and Human Impact
Understanding Pediatric Bilateral Periventricular Leukomalacia: Causes and Effects
Children's bilateral periventricular leukomalacia? What is pediatric bilateral periventricular leukomalacia? A 2-year and 7-month-old child has reasonable mobility but poor language expression and has experienced episodes of unresponsiveness. Please help me answer this quest...
Dr. Jian Yingxiu reply Rare Disease
Periventricular leukomalacia (PVL) occurs when the white matter of the brain is damaged, often due to prior injury. It is most commonly seen in premature infants or those with intrauterine infections. Regarding treatment and prognosis, these vary depending on the underlying cause...[Read More] Understanding Pediatric Bilateral Periventricular Leukomalacia: Causes and Effects
Understanding Pediatric Bilateral Periventricular Leukomalacia: Symptoms and Care
Bilateral periventricular leukomalacia What is pediatric left and right periventricular leukomalacia? Currently, the child is 2 years and 7 months old, has reasonable mobility, but poor language expression, and has experienced episodes of unresponsiveness. Please help me answer t...
Dr. Jian Yingxiu reply Rare Disease
The text appears to be garbled and unreadable.[Read More] Understanding Pediatric Bilateral Periventricular Leukomalacia: Symptoms and Care