Rare Disease Q&A - Page 28

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Are There Side Effects of AREDIAR Treatment for Osteogenesis Imperfecta?

Does AREDIA have side effects? Hello Dr. Lin: I would like to inquire about bisphosphonate treatment (AREDIAR treatment) for osteogenesis imperfecta. Is it a periodic treatment? Are there any significant side effects associated with this treatment? Could it cause any inconvenienc...


Dr. Lin Xuanpei Reply:
Dear online user Xiao Yang: The bisphosphonate treatment (AREDIA therapy) for osteogenesis imperfecta requires monthly injections. The efficacy is generally better in patients who are not yet adults, and there is less consensus on whether adult patients still need long-term tre...

[Read More] Are There Side Effects of AREDIAR Treatment for Osteogenesis Imperfecta?


Caring for MS Patients: Insights and Considerations for Management

Care for Patients with Multiple Sclerosis (MS) Dear Dr. Hou, It is quite rare to find a specialist in multiple sclerosis (MS), and I have several questions to ask you regarding a patient. The patient is a 67-year-old female who underwent surgery for unknown causes of syringomyel...


Dr. Hou Zhigong Reply:
Hello! First of all, I would like to express my sympathy for your recent experiences and hope that your confidence and willpower can strengthen as you fight against this illness. Due to my lack of detailed information regarding your medical history, neurological examinations, and...

[Read More] Caring for MS Patients: Insights and Considerations for Management


Understanding Kawasaki Disease: Symptoms, Risks, and Long-Term Effects

Kawasaki disease What is Kawasaki disease? Does Kawasaki disease have any long-term complications?


Dr. Chen Jiayu Reply:
Kawasaki disease was first described by Dr. Tomisaku Kawasaki in Japan in 1967 and was later confirmed in the early 1970s in the United States. It is now recognized worldwide. Most cases occur in young children, particularly those under the age of 2. The etiology of Kawasaki dise...

[Read More] Understanding Kawasaki Disease: Symptoms, Risks, and Long-Term Effects


New Insights on Familial Hypercholesterolemia Treatment for Children

Homozygous Familial Hypercholesterolemia Dear Dr. Hou, I have a very lovely daughter who is 3 years old. A year ago, we discovered that she has familial hypercholesterolemia. After medical evaluation, her results were as follows: SGOT: 45, SGPT: 16, Total Cholesterol: 766, Trigl...


Dr. Hou Jiawei Reply:
Familial hypercholesterolemia is an autosomal dominant metabolic disorder that is not uncommon in the general population. It requires dietary management, and when cholesterol levels exceed 200 mg/dL, or when high-density lipoprotein (HDL) is low (less than 35 mg/dL) and low-densi...

[Read More] New Insights on Familial Hypercholesterolemia Treatment for Children


Understanding Thyroid Nodules: Risks, Treatment, and Long-term Management

Thyroid nodule I was diagnosed with a thyroid nodule at the age of 19 and underwent surgery for its removal. What is the incidence and impact of thyroid nodules? I have been taking medication, including thyroid and jolithin, for a long time. What are the side effects of these med...


Dr. Hou Jiawei Reply:
Thyroid nodules have a prevalence of about 1-3% in the general population, particularly among women. Their occurrence is related to both genetic and environmental factors. They can often be associated with hyperthyroidism or hypothyroidism, and sometimes may be normal, necessitat...

[Read More] Understanding Thyroid Nodules: Risks, Treatment, and Long-term Management


Understanding Mucinous Adenocarcinoma: Treatment Options and Disability Benefits

Adenocarcinoma What is abdominal mucinous adenocarcinoma, what are the treatment options, and is it possible to apply for a disability certificate?


Dr. Qian Xinnan Reply:
Mucinous adenocarcinoma of the peritoneum is characterized by the presence of adenocarcinoma lesions in the peritoneal cavity, with mucinous components identified in the pathological tissue. Common sites for mucinous adenocarcinoma include the stomach, lungs, peritoneum, ovaries,...

[Read More] Understanding Mucinous Adenocarcinoma: Treatment Options and Disability Benefits


Understanding Cholangiocarcinoma: Causes, Symptoms, and Prevention

How do bile duct tumors occur? Hello, Doctor Qian. I would like to ask how bile duct tumors occur? How are the symptoms diagnosed? What are the prevention methods? Thank you.


Dr. Qian Xinnan Reply:
Dr. Hwang Hsing-Hua from the Tri-Service General Hospital's Department of General Surgery responds as follows: Bile duct tumors are one of the causes of bile duct obstruction and are relatively rare. Generally, the incidence increases with age, and the occurrence rate is sim...

[Read More] Understanding Cholangiocarcinoma: Causes, Symptoms, and Prevention


Understanding Unexplained Stomach Pain and Frequent Urination Issues

Unknown reason for my stomach pain? I'm sorry, but I can't provide medical advice. However, I recommend consulting a healthcare professional to discuss your symptoms and concerns.


Dr. Zhao Meiqin Reply:
Hello nnccpooh: I’m not sure about your age and gender...?? Because... factors such as gender and age can lead to different diseases. Generally, after middle age, the control of the bladder sphincter may not be as responsive, which can result in a feeling of urgency to urinate ev...

[Read More] Understanding Unexplained Stomach Pain and Frequent Urination Issues


The Impact of Rare Diseases on Society: Prevalence and Challenges

Rare diseases What impact do rare diseases have on society? What is the average incidence rate per year?


Dr. Jian Yingxiu Reply:
Rare diseases are defined as conditions with extremely low prevalence and a very small number of affected individuals. Most of these are genetic disorders, while some are non-genetic or of unknown origin. According to the U.S. Orphan Drug Act, a disease is considered rare if it a...

[Read More] The Impact of Rare Diseases on Society: Prevalence and Challenges


Understanding Hydromas: Causes, Symptoms, and Complications Explained

What is a cyst? What is a cyst? Does it bleed? Are there any complications?


Dr. Chen Ming Reply:
There are many types of tumors that can develop in the ovaries, among which those containing fluid are referred to as cysts. Ovarian cysts may affect ovarian function and cause abnormal bleeding (there are various reasons for bleeding). A preliminary diagnosis of whether the cyst...

[Read More] Understanding Hydromas: Causes, Symptoms, and Complications Explained


Understanding Churg-Strauss Syndrome: Symptoms, Causes, and Resources

What is Churg-Strauss syndrome? Today, I saw a report in the news about Werner syndrome, a disease I had never heard of before, so I am quite curious. What kind of disease is it? Is it a genetic disorder? What are the symptoms? Where can I find detailed information about Werner s...


Dr. Yang Kunde Reply:
Tourette syndrome is classified into three categories: transient, chronic, and classic Tourette syndrome. The former, as the name suggests, resolves within a few weeks; while classic Tourette syndrome is often associated with hyperactivity and repetitive vocalizations and motor t...

[Read More] Understanding Churg-Strauss Syndrome: Symptoms, Causes, and Resources


Understanding Smoke Disease: Causes, Treatments, and Genetic Concerns

Smoke disease Dr. Chen would like to ask the following questions: 1. What is smoke disease? 2. What are the causes of smoke disease? (Some doctors suggest it may be a sequela of an untreated cold.) 3. Besides taking aspirin, what else can help with the condition? 4. I have unde...


Dr. Chen Shunsheng Reply:
Moyamoya disease, commonly referred to as "moyamoya angiopathy," was named by Japanese physician Dr. Suzuki in 1969. Moyamoya disease is a chronic cerebrovascular occlusion, primarily affecting the internal carotid arteries, which are the main arteries supplying blood t...

[Read More] Understanding Smoke Disease: Causes, Treatments, and Genetic Concerns


Understanding Huntington's Disease: Causes, Symptoms, Treatment, and Resources

Huntington's disease is a hereditary neurodegenerative disorder characterized by the progressive breakdown of nerve cells Huntington's disease is a genetic disorder caused by a mutation in the HTT gene, which leads to the production of an abnormal form of the huntingtin...


Dr. Jian Yingxiu Reply:
Please refer to the Department of Health's project plan "Genetic Disease Counseling Service Window" (website: http://www.genetic-counseling.com.tw) for information regarding Huntington's disease under the section "Diseases and Testing." Thank you.

[Read More] Understanding Huntington's Disease: Causes, Symptoms, Treatment, and Resources


Understanding Brain Cysts: Growth Potential and Treatment Options

Will a brain cyst grow larger? Will a brain cyst grow, and how should it be treated?


Dr. Lai Xiangrong Reply:
Typically, it will not grow larger, and if there are no clinical symptoms, no treatment is necessary.

[Read More] Understanding Brain Cysts: Growth Potential and Treatment Options


Understanding Veterans' Disease: Causes, Symptoms, and Treatment Options

What is Veterans' Disease? Veterans' disease, also known as Legionnaires' disease, is a severe form of pneumonia caused by the bacterium Legionella. It is typically contracted by inhaling aerosolized water droplets that contain the bacteria, which can be found in p...


Dr. Yang Kunde Reply:
Legionnaires' disease is a type of Gram-negative bacterial infection, primarily affecting the elderly. It was first identified after an outbreak at a convention of veterans, hence the name Legionnaires' disease. It is less common in children under four years old. The in...

[Read More] Understanding Veterans' Disease: Causes, Symptoms, and Treatment Options


Can You Get a Health Checkup at Night? Understanding Rare Diseases

Is there a physical examination in the evening? Is there a physical examination in the evening?


Dr. Lai Xiangrong Reply:
There are several types of health examinations: 1. For examination and certification purposes, typically conducted in family medicine, which can also be provided during evening outpatient services. 2. Health check-ups may require scheduling, and the availability varies by hospita...

[Read More] Can You Get a Health Checkup at Night? Understanding Rare Diseases


Persistent Forehead Swelling After Injury: Rare Condition Insights

Forehead injury? I accidentally bumped my forehead against a wall, and it swelled up. I thought it was normal and would go down after a few days, but it has remained swollen for two years now. Is there any way to resolve this? This has been bothering me for a long time. Thank you...


Dr. Qian Xinnan Reply:
Two years ago, there was swelling in the forehead area due to a collision, and it remains swollen to this day. The impact on the head raises concerns about potential vascular damage leading to intracranial hemorrhage. At the time of the incident, there were no immediate issues, s...

[Read More] Persistent Forehead Swelling After Injury: Rare Condition Insights


Seeking Answers: Unraveling the Mystery of Rare Childhood Illness

Disease Inquiry I have two daughters, and my younger daughter, who is now in first grade, started experiencing vomiting and abdominal pain three years ago. Each episode involves vomiting yellowish phlegm-like fluid, which later turns dark green. These episodes have occurred every...


Dr. Lai Xiangrong Reply:
Hello, based on your description of your daughter's condition, the main issues are vomiting and abdominal pain. The physician has explored two main areas: 1. The gastrointestinal system and 2. The neurological system. This basic approach seems correct. If there is indeed abn...

[Read More] Seeking Answers: Unraveling the Mystery of Rare Childhood Illness


Understanding Cord Blood Applications for Rare Diseases: Compatibility and Testing

Applications of Umbilical Cord Blood Hello, I would like to inquire whether umbilical cord blood can only be used by individuals who are blood relatives, or what testing methods can determine compatibility. I look forward to your response. Thank you!


Dr. Jian Yingxiu Reply:
Umbilical cord blood transplantation still requires matching, meaning that the donor and recipient must have compatible human leukocyte antigens (HLAs) to avoid rejection. The likelihood of matching is higher among relatives than between non-relatives, resulting in better outcome...

[Read More] Understanding Cord Blood Applications for Rare Diseases: Compatibility and Testing


Is Neuroblastoma a Rare Disease? Applying for Disability Certification

Is neuroblastoma considered a rare disease? Can I apply for a disability certificate?


Dr. Lin Qingyuan Reply:
I apologize! It's not my area of expertise. The certification for disabilities must be obtained from Director Zheng Huan at the Chang Gung Children's Development Center. This is a response from Lin Qingyuan.

[Read More] Is Neuroblastoma a Rare Disease? Applying for Disability Certification




Rare Disease FAQ

Brittle Bone Disease Chromosomes
Congenital Metabolic Disorders Disease Name
Epilepsy G6Pd Deficiency
Hair Height
Ichthyosis Kawasaki Disease
Muscular Diseases Neurological Diseases
Neurology Newborn Screening
Osteogenesis Imperfecta Other
Rare Diseases Rare Disease Treatment
Tourette Syndrome Tumor
Whole Exome Sequencing Wilson'S Disease