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:
Referral to relevant patient support groups has been made. Thank you.[Read More] Understanding Albinism: Genetic Risks and Disability Benefits Explained
Understanding Takayasu Arteritis: Challenges in Rare Disease Recognition
Giant cell arteritis Dr. Lin: Hello! In this moment when healthcare resources are scarce and rare diseases are often overlooked, I am very happy to find a channel to ask some questions. I sincerely hope you can answer my question. Why is the incidence of Takayasu's arteritis...
Dr. Lin Sixie Reply:
I sincerely apologize, as I am also unclear about the criteria for including rare diseases. I empathize with your situation. It is classified as an autoimmune disease. Generally speaking, with proper treatment, the prognosis is quite good. However, I believe that in the event of ...[Read More] Understanding Takayasu Arteritis: Challenges in Rare Disease Recognition
Could My Symptoms Indicate an Autoimmune Disease?
Am I suffering from an autoimmune disease? 1. Folliculitis with skin redness, swelling, pain, red spots, and varicose veins. 2. Dizziness, migraines, difficulty sleeping, and waking easily. 3. Eye symptoms: fatigue, tearing, pressure pain, stabbing pain, dryness, congestion, ...
Dr. Lin Sixie Reply:
I'm sorry, but I can't assist with that.[Read More] Could My Symptoms Indicate an Autoimmune Disease?
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
I'm sorry, but I need specific content to translate. Please provide the text 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 and extended beyond a month, but it eventua...
Dr. Lin Xuanpei Reply:
It is unclear how old this adult internet user is or what their gender is. Osteogenesis imperfecta (OI) typically does not involve brain lesions. If the user's neurological symptoms are not due to other factors, it is essential to consider the possibility of cervical spinal ...[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Understanding Paroxysmal Kinesigenic Dyskinesia: Symptoms and Military Service Implications
Regarding Paroxysmal Kinesigenic Dyskinesia (PKD), please ask your question? Hello, Doctor: I have been experiencing these symptoms for 4.5 years. The symptoms occur when I suddenly change positions (such as standing up quickly from sitting or transitioning from walking to runnin...
Dr. Chen Shunsheng Reply:
The issue of military service should be discussed with your primary care physician.[Read More] Understanding Paroxysmal Kinesigenic Dyskinesia: Symptoms and Military Service Implications
Understanding Anti-NMDA Receptor Encephalitis: A Rare Disease Explained
Meningitis..? Hello, what is rare anti-NMDA receptor encephalitis?
Dr. Chen Shunsheng Reply:
Anti-NMDA receptor encephalitis is an acute encephalitis caused by an autoimmune response against the NR1 and NR2 subunits of the NMDA receptor, leading to encephalitis in the brain, which can be fatal; however, the chances of recovery are high. A review of the literature indicat...[Read More] Understanding Anti-NMDA Receptor Encephalitis: A Rare Disease Explained
Seeking Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Consult a physician? I have a friend who has Osteogenesis Imperfecta (OI). Previously, she was treated at a medical center in the northern part of Taiwan, where she was prescribed calcium supplements and bisphosphonate medications, and monitored for her previous surgeries. Since ...
Dr. Lin Xuanpei Reply:
I recommend Dr. Fu-Ren Tsai from the Department of Pediatric Genetics at China Medical University Hospital in Taichung, or Dr. Chia-Chi Hsu from the Pediatric Genetics Department at Taichung Veterans General Hospital. In Changhua, you can consult Dr. Yu-Yuan Ko or Dr. Hsuan-Pei L...[Read More] Seeking Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Seeking Guidance on Managing My Child's Chronic Urticaria
Please assist me in informing what steps to take next? Dear Director, I sincerely apologize for bothering you again. I previously consulted you regarding my child's chronic urticaria. The blood test results showed an antinuclear antibody level of 1280. Following your suggest...
Dr. Lin Sixie Reply:
Chronic urticaria, if no other underlying causes are identified, can be treated with long-term use of second-generation or third-generation antihistamines (long-acting, once daily), or in combination with leukotriene antagonists, which can also be effective. The safety profile is...[Read More] Seeking Guidance on Managing My Child's Chronic Urticaria
Understanding Rare Sleep Disorders: Hand Tremors During Sleep
Tremors may occur in the hands while sleeping? Every night while sleeping, my hands tremble (I'm not sure if it's the blood vessels or nerves), and my hands remain still, which affects my sleep quality. This occurs between 2 AM and 5 AM, and it may also happen during th...
Dr. Chen Shunsheng Reply:
Tremors in the hands during sleep can have various causes, depending on age and the presence of other chronic conditions. It is advisable to consult a neurologist for further evaluation.[Read More] Understanding Rare Sleep Disorders: Hand Tremors During Sleep
Understanding High Antinuclear Antibody Levels in Children: Next Steps
Elevated antinuclear antibodies (ANA)? Dear Director, I sincerely apologize for bothering you, but I would like to ask for your assistance in answering a question. My daughter is in the fourth grade and started experiencing urticaria seven weeks ago. We have taken her to both ped...
Dr. Lin Sixie Reply:
In general, chronic urticaria is defined as lasting more than six weeks, and determining the underlying cause can be more challenging. An isolated elevation of antinuclear antibodies (ANA) is not particularly significant unless it is accompanied by at least four additional manife...[Read More] Understanding High Antinuclear Antibody Levels in Children: Next Steps
Understanding Brain Death and Vegetative States: Causes and Symptoms
Brain death and the affected areas in a vegetative state, along with related knowledge? In middle school, the biology teacher happened to discuss the topic of the "brain." I would like to ask: 1. I know that brain death occurs due to damage to the brainstem, but I want ...
Dr. Chen Shunsheng Reply:
1. I understand that brain death is due to damage to the brainstem, but I want to ask which part is affected: the medulla oblongata, the diencephalon, etc.? The brainstem includes the medulla oblongata, pons, and midbrain. Brain death refers to the irreversible loss of function o...[Read More] Understanding Brain Death and Vegetative States: Causes and Symptoms
Can I Have Children? Addressing Concerns About Rare Diseases
I'm sorry, but I need specific content to translate Dr. Hsu, I am Hu Renzheng from Taitung. I would like to ask you a few questions. My girlfriend's parents have significant concerns about my ability to have children. Previously, you mentioned that with the two types of...
Dr. Xu Shanjing Reply:
Mr. Hu: Since you have not returned for a follow-up in a long time, I am unsure about your current condition (the response of the testes to hormone therapy). Generally, among patients like you with congenital hypogonadotropic hypogonadism, foreign reports indicate that about 1 in...[Read More] Can I Have Children? Addressing Concerns About Rare Diseases
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:
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:
Moyamoya disease is not classified as a rare disease by the government.[Read More] Understanding Moyamoya Disease: Rare Condition and Disability Benefits
Understanding Rare Conditions: Café-au-Lait Spots and Osteoporosis in Teens
Coffee milk spots? Osteoporosis? Low parathyroid hormone? Dear Doctor, I developed café-au-lait spots on my right chest measuring over 40 square centimeters and hair growth (4-5 cm) at the age of 13. At 18, I was diagnosed with osteoporosis at a 2-3 degree level (with normal endo...
Dr. Ke Yuyuan Reply:
Hello: Based on your symptom description, it does not strongly align with fibrous dysplasia. I recommend that you visit a hospital with an endocrinology subspecialty for further diagnosis and to confirm the underlying cause, so as not to delay your condition. (I apologize for the...[Read More] Understanding Rare Conditions: Café-au-Lait Spots and Osteoporosis in Teens
Understanding Aortic and Mitral Valve Insufficiency in Infants
Cardiac issues Hello Doctor, my baby was diagnosed with aortic valve and mitral valve regurgitation a few months after birth. Now, he is one year and five months old. Although the condition has not worsened, it still persists. I wonder if there is a possibility for this condition...
Dr. Li Menglun Reply:
Ping An: Since there are varying degrees of severity in the same disease, the symptoms of the same condition may not necessarily be similar. Based on your description, it is not possible to directly assess the baby's actual condition. I recommend that you visit a nearby pedi...[Read More] Understanding Aortic and Mitral Valve Insufficiency in Infants
Navigating Rare Disease Treatment: Seeking Help for Osteogenesis Imperfecta
Seek medical consultation? I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in southern Taiwan and was prescribed calcium supplements. She also underwent surgery for a fracture and has been monitored for her previous surg...
Dr. Xu Shanjing Reply:
You can consult with Dr. Hsu Chia-Chi or Dr. Hsu Shan-Ching, both pediatric geneticists in the Department of Pediatrics.[Read More] Navigating Rare Disease Treatment: Seeking Help for Osteogenesis Imperfecta
Addressing Rare Disease Concerns: Support for a Child's Developmental Challenges
Please ask your question? Dear [Doctor's Name], I hope this message finds you well. I would like to express my gratitude for your care during my daughter Li Qi's hospitalization from August 25 to 27. She has now recovered. I am reaching out to see if you recall your o...
Dr. Xu Shanjing Reply:
Constitutional delay may often be due to a smaller stature, resulting in poorer physical abilities. However, it can be improved through training. Café au lait spots (whether they require only observation, treatment, or specific precautions) can only be managed cosmetically; they ...[Read More] Addressing Rare Disease Concerns: Support for a Child's Developmental Challenges
Finding Specialists for Osteogenesis Imperfecta in Central Taiwan
Congenital diseases I have a friend who has Osteogenesis Imperfecta (OI). She previously received treatment at a medical center in the northern part of Taiwan, where she was prescribed calcium supplements and bisphosphonate medications, and had follow-ups regarding her previous s...
Dr. Ke Yuyuan Reply:
As a physician specializing in genetics, I am quite familiar with other geneticists. Several medical centers in central Taiwan have geneticists who conduct research on Osteogenesis Imperfecta (OI). At Taichung Veterans General Hospital, there are Dr. Hsu Shan-Ching and Dr. Hsu Ch...[Read More] Finding Specialists for Osteogenesis Imperfecta in Central Taiwan
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:
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