Other, Rare Disease FAQ - Page 5

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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:
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 Nerve Damage: Alcohol Consumption and Recovery Options

Nerve damage and alcohol consumption? Hello, Doctor. Recently, I underwent a nerve conduction study, which confirmed that the peroneal nerve from my right calf to the dorsum of my foot is damaged. Currently, I have weakness in my right big toe. I would like to ask a few questions...


Dr. Chen Shunsheng Reply:
1. Does electrical therapy help with nerve growth? It may assist in nerve growth. 2. Is acupuncture effective? It might be beneficial. 3. Is vitamin B better administered via injection or orally? Both may not be beneficial. 4. Should alcohol be avoided during this period? I...

[Read More] Understanding Nerve Damage: Alcohol Consumption and Recovery Options


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:
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


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


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


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 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


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


Understanding Thyroid and Hormonal Deficiencies: A Patient's Journey

Thyroid hormone deficiency Hello Dr. Hsu, I am Hu Ren-Cheng from Taitung. I just discovered that I can discuss my medical condition with you through Taiwan E-Hospital. A few days ago, my mother took me to Taitung Provincial Hospital to see a urologist because I anticipate getti...


Dr. Xu Shanjing Reply:
Ren Zheng: I apologize for the late response due to my recent busyness. Previously, I asked you to inject FSH and LH with the aim of inducing the development and maturation of your testes, leading to the production of testosterone and sperm. Administering additional testosterone ...

[Read More] Understanding Thyroid and Hormonal Deficiencies: A Patient's Journey


Managing Finger Biting in Children with Rare Metal Excretion Disorders

How to protect the index finger? Dr. Hsu: I would like to ask you a question. A colleague's child has a metal excretion disorder and was originally a lively child. Gradually, they have lost the ability to walk and their body has become stiff. Currently, they are uncontrollab...


Dr. Xu Shanjing Reply:
Hello Ah Hua: The child's behavior resembles obsessive-compulsive disorder, but it may not be typical OCD. It would be advisable to consult a child psychiatrist in the mental health department to explore this aspect. You might consider trying OCD medications for 1-2 months t...

[Read More] Managing Finger Biting in Children with Rare Metal Excretion Disorders


Addressing Growth Concerns in Children Below the 3rd Percentile

Long-term weight issues below 3% body weight? Dr. Hsu: Hello, my daughter is currently nearly 1 year and 8 months old and weighs only 7.5 kg, which is far below the growth chart's 3rd percentile. She was born full-term (38 weeks and 4 days) at only 2308 grams, and this has b...


Dr. Xu Jiaqi Reply:
Apple Mom: Based on the content of the letter, it appears that my daughter is experiencing underweight due to long-term inadequate nutrition. If we consider visiting the pediatric gastroenterology department at Taichung Veterans General Hospital, we can consult with Director Lin ...

[Read More] Addressing Growth Concerns in Children Below the 3rd Percentile


Understanding Multiple Sclerosis: Symptoms, Diagnosis, and Treatment Options

Multiple Sclerosis (MS) Two years ago, the patient presented with numbness in the left hand and tightness in the muscles from the left shoulder to the left hand. They underwent C6-C7 discectomy and carpal tunnel release surgery. Postoperatively, the symptoms in the left hand pers...


Dr. Chen Shunsheng Reply:
It is possible; what you need is a consultation with an experienced neurologist specializing in neuromuscular disorders. Make sure to gather all relevant information and bring it with you, as a diagnosis cannot be made online.

[Read More] Understanding Multiple Sclerosis: Symptoms, Diagnosis, and Treatment Options


Understanding Testicular and Epididymal Inflammation with Persistent Hiccups

Orchitis and epididymitis with hydrocele associated with persistent hiccups? I am 61 years old and still working. Recently, I sought medical attention due to pain in my left testicle. An ultrasound scan revealed testicular inflammation and epididymitis with fluid accumulation. Wh...


Dr. Chen Shunsheng Reply:
Left testicular pain led to a medical consultation, and an ultrasound scan revealed orchitis and epididymitis with associated hydrocele. What age group and causes could lead to such symptoms, and how can it be treated and prevented? ANS: This is not my area of expertise; please...

[Read More] Understanding Testicular and Epididymal Inflammation with Persistent Hiccups


Understanding Dominant Genetic Disorders: Inheritance Questions Explained

Could you please clarify your question regarding genetic issues? I have an autosomal dominant genetic disorder, but my parents and younger brother are normal. I would like to ask: 1. Will my brother's offspring inherit the autosomal dominant disorder or not? 2. If my offspri...


Dr. Xu Shanjing Reply:
Jiahao; autosomal dominant genetic disorders are typically inherited from parents, but a significant proportion can also arise from de novo mutations. The symptoms of patients with certain diseases caused by dominant gene mutations can vary greatly (i.e., there can be significant...

[Read More] Understanding Dominant Genetic Disorders: Inheritance Questions Explained


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