Understanding Rare Diseases: Treatment Options for Hearing and Dental Issues
Rare diseases Hello Doctor: I would like to ask about my girlfriend, who has hearing impairment combined with Klippel-Feil syndrome and dental issues: her upper jaw is recessed, and her lower jaw is protruding. Regarding her ear condition, she currently wears hearing aids. What s...
Dr. Jian Yingxiu Reply:
Hello: Currently, the treatment is symptomatic. It is necessary for her otolaryngologist to evaluate the most appropriate management in conjunction with a dentist or a plastic surgeon. It is recommended that you go and explain your needs to the physician. Thank you.[Read More] Understanding Rare Diseases: Treatment Options for Hearing and Dental Issues
Understanding Rare Spontaneous Bacterial Cellulitis: A Patient's Guide
Rare spontaneous bacterial cellulitis I recently came across an article that closely resembles my grandfather's foot condition. However, after visiting the hospital, we were advised to continue follow-up visits with the family medicine department, but it has been two years w...
Dr. Liu Qingshan Reply:
You can visit a dermatologist and inform the doctor about your medical history, who will assist you with the examination. Wishing you joy and peace.[Read More] Understanding Rare Spontaneous Bacterial Cellulitis: A Patient's Guide
Clinical Significance of Abnormal Coproporphyrin Tests in Rare Diseases
Abnormal coproporphyrin test results? Hello, doctor. I would like to ask about the clinical significance of abnormal coproporphyrin tests. Thank you for your response. The doctor mentioned a suspicion of a rare disease known as porphyria, but only abnormal urinary coproporphyrin ...
Dr. Jian Yingxiu Reply:
Hello: Currently, for the diagnosis of the rare disease porphyria, genetic testing can be used to confirm whether the criteria for reporting are met. However, not all patients will receive definitive answers from genetic testing. Please discuss with your physician the necessity o...[Read More] Clinical Significance of Abnormal Coproporphyrin Tests in Rare Diseases
Understanding Marfan Syndrome: Diagnosis and Specialist Guidance
Marfan syndrome I am unsure if there are any objective methods for diagnosing this condition or which specialty clinic to consult. A dermatologist had previously suspected my condition, while a cardiologist at the hospital did not consider it to be within their expertise. Is the ...
Dr. Jian Yingxiu Reply:
Marfan syndrome traditionally has a set of diagnostic criteria based on symptoms, with higher scores indicating a closer resemblance to the condition. However, current genetic testing can identify pathogenic genes associated with Marfan syndrome as well as other connective tissue...[Read More] Understanding Marfan Syndrome: Diagnosis and Specialist Guidance
Understanding Persistent Trigeminal Neuralgia: Causes and Treatment Options
Trigeminal neuralgia with persistent paroxysmal pain? Hello, Doctor: My father is currently 66 years old and has been experiencing persistent intermittent stabbing pain around the second branch of the trigeminal nerve. This is not typical trigeminal neuralgia, as he reports that ...
Dr. Chen Shunsheng Reply:
Priority should still be given to trigeminal neuralgia, or adjusting the medication should take precedence. Organize the medication history, and if necessary, consider using a combination therapy for adjustments. It is also important to rule out the possibility of phantom pain.[Read More] Understanding Persistent Trigeminal Neuralgia: Causes and Treatment Options
Amniotic Fluid Chip Testing for DMD: What You Need to Know
Amniotic fluid chip testing Hello Doctor, I would like to ask if amniotic fluid chip testing can detect Duchenne Muscular Dystrophy (DMD)? I found information online stating that this condition only occurs in males, as females have two X chromosomes that can compensate for each o...
Dr. Jian Yingxiu Reply:
Hello: I apologize for causing you concern. This question can be answered in two parts: 1. Can amniotic fluid chips detect DMD? Answer: Currently, the amniotic fluid chips available on the market that claim to detect DMD are likely only able to identify certain types of DMD. Th...[Read More] Amniotic Fluid Chip Testing for DMD: What You Need to Know
Understanding Unexplained Low Copper Levels After Genetic Testing
Even after genetic testing, the cause could still not be identified? Hello Doctor, a few years ago I had a neurological examination due to tremors and myoclonus, and my blood levels of copper and ceruloplasmin were low, with copper around 40 and ceruloplasmin at 10, but my urinar...
Dr. Jian Yingxiu Reply:
Genetic test results should be interpreted in conjunction with clinical symptoms and biochemical tests. Sometimes, abnormalities in clinical symptoms and biochemical tests may require follow-up to observe any changes. It is recommended that you bring your previous test results an...[Read More] Understanding Unexplained Low Copper Levels After Genetic Testing
Understanding Cyclic Vomiting Syndrome in Children: Causes and Treatment Options
Cyclic Vomiting Syndrome (CVS) Dear Vice Dean Liu, My daughter, who is 4 years old, has been experiencing severe vomiting episodes approximately every three weeks for the past two years. During each episode, she is unable to eat at all and requires intravenous fluids in the emer...
Dr. Liu Qingshan Reply:
Based on your description, please contact Ms. Li at the Genetic Counseling Clinic to arrange an appointment at 04-7238595, extension: 7244.[Read More] Understanding Cyclic Vomiting Syndrome in Children: Causes and Treatment Options
Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
NTU Next-Generation Genetic Testing Kit Hello Dr. Jian, regarding the previously mentioned issue of "whole exome sequencing and the NTU next-generation neuromuscular testing panel," if whole exome sequencing encompasses the genes tested in the neuromuscular panel, why d...
Dr. Jian Yingxiu Reply:
Hello: Each test has its own advantages and disadvantages, as well as its own validation results. Therefore, it is still necessary for clinical physicians to assess the individual case and determine the appropriate tests that meet the needs. Thank you.[Read More] Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
Should I Get a Next-Generation Neuromuscular Disease Panel After Exome Testing?
Whole Exome Sequencing and National Taiwan University Next-Generation Neuromuscular Disease Panel Hello, Dr. Jian. I have been experiencing weakness in my limbs for over a year, and the neurology department has not been able to provide a diagnosis. I am considering genetic testin...
Dr. Jian Yingxiu Reply:
Hello: From a technical standpoint, the whole exome sequencing used in the National Taiwan University next-generation neuromuscular disease panel employs the same technology. If you have already undergone whole exome sequencing, there is no need to repeat the National Taiwan Univ...[Read More] Should I Get a Next-Generation Neuromuscular Disease Panel After Exome Testing?
Understanding ANA Test Results: Implications for Rare Diseases in Children
Immunoglobulin antibody index My daughter (8 years old) recently experienced abnormal hair loss and underwent blood tests at the hospital. The results showed an ANA titer of 1:640, with further testing revealing 1:640 + Homogeneous (AC-1) and 1:320 + Centromere (AC-3). I would li...
Dr. Lin Sixie Reply:
Hello Peggy: 1. Do these two indices indicate that scleroderma will definitely develop in the future? No. 2. What other tests are needed? Symptoms that are more commonly seen in pediatric scleroderma include localized thickened, shiny rashes or associated joint stiffness. If ther...[Read More] Understanding ANA Test Results: Implications for Rare Diseases in Children
Understanding 16p13.3 Microduplication: Implications for Fetal Health
Abnormalities in amniotic fluid chip analysis, with microduplication and microdeletion in the p13.3 region of chromosome 16? Hello Doctor, I am a 30-year-old first-time mother who is 20 weeks pregnant. I have Graves' disease, which is well-controlled with medication. I have ...
Dr. Jian Yingxiu Reply:
Hello: Anticipating new life yet encountering such uncertainty can indeed be unsettling. It seems you have already gathered all the information, but due to incomplete penetrance, even if one parent has similar chromosomal variations, there is still a chance that the baby may expe...[Read More] Understanding 16p13.3 Microduplication: Implications for Fetal Health
Understanding Huntington's Disease: Risks, Inheritance, and Family Impact
Huntington's disease Hello Doctor, my mother has Huntington's disease, and my aunt passed away from it when she was young. My grandfather also died from Huntington's disease, and they all showed symptoms. However, my uncle did not develop the disease. I researched ...
Dr. Lai Xiangrong Reply:
In recent years, there have been further advancements in the genetics of chorea, particularly Huntington's disease, which can now be tested in Taiwan. The testing and diagnostic process involves numerous ethical considerations that need to be fully understood before proceedi...[Read More] Understanding Huntington's Disease: Risks, Inheritance, and Family Impact
Understanding Primary Thrombocythemia: Rare Disease Insights and Treatment Options
Primary thrombocythemia Hello Doctor, I would like to ask about my condition. I was diagnosed with essential thrombocythemia at the age of 32. After undergoing numerous tests, including a bone marrow biopsy, it was confirmed that I have primary thrombocythemia with a JAK2 mutatio...
Dr. Jian Yingxiu Reply:
Hello: This disease is not classified as a rare disease by the current government announcement. Please consult your hematologist for alternative medication treatment options. Thank you.[Read More] Understanding Primary Thrombocythemia: Rare Disease Insights and Treatment Options
Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Congenital Adrenal Hyperplasia (CAH) Hello Dr. Wu, I apologize for bothering you. My girlfriend was diagnosed with a condition related to pediatric endocrinology when she was in kindergarten. The health insurance documentation states the diagnosis as "congenital adrenal hype...
Dr. Wu Wanru Reply:
Twenty years ago, the understanding of this disease was vastly different from today. Advances in molecular genetics have significantly improved our ability to identify genetic inheritance patterns. However, this group of disorders involves a wide range of enzymes, and different t...[Read More] Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
I would like to ask a few questions about rare diseases, please! Hello, Doctor. I apologize for bothering you. My girlfriend was diagnosed with a condition related to "congenital adrenal hyperplasia" during her kindergarten years, which is associated with enzyme deficie...
Dr. Jian Yingxiu Reply:
Congenital adrenal hyperplasia has several subtypes. Please consult your girlfriend and her physician to understand the necessity of medication. If genetic counseling is needed, bring your girlfriend and her medical history to a genetic counseling clinic at a medical center to de...[Read More] Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Understanding Hair Loss and Abnormal ANA Levels in an 8-Year-Old
An 8-year-old child with hair loss and abnormal ANA (antinuclear antibody) levels? Hello, a child (8 years old) initially had a small patch of alopecia areata, which later progressed to widespread hair loss. Blood tests showed an antinuclear antibody (ANA) titer of 1:320, with co...
Dr. Lin Sixie Reply:
Hello Peggy: Based on the description, the hair loss does not yet meet the criteria for lupus erythematosus. It is recommended to seek evaluation and treatment from a pediatric dermatologist at a medical center.[Read More] Understanding Hair Loss and Abnormal ANA Levels in an 8-Year-Old
Which Medical Specialty Should You Consult for Neurofibromatosis?
Which medical specialty should one consult for neurofibromas? Hello, Doctor: I would like to ask, I have a rare disease called neurofibroma, and I have seen many doctors. Most of them are seeing this for the first time or mentioned that they did not study this rare disease in med...
Dr. Liu Qingshan Reply:
1. Genetic and diagnostic issues: Consult a neurologist. 2. Aesthetic concerns: Consult a plastic surgeon or dermatologist. 3. Intracranial nerve tumor compression: Consult a neurosurgeon.[Read More] Which Medical Specialty Should You Consult for Neurofibromatosis?
Understanding Microdeletion of Chromosome 15q11.2: Implications for Rare Diseases
Microdeletion of the long arm q11.2 of chromosome 15 detected in amniotic fluid? A microdeletion of approximately 520 kb is present in the long arm of chromosome 15 at the q11.2 region, specifically located within the OMIM (615656) region from 22,582,282 to 23,102,262. This delet...
Dr. Jian Yingxiu Reply:
Generally speaking, if the changes occur within the individual, they are more likely to cause functional abnormalities. In cases of hereditary conditions, the individual will often resemble the parents' situation, but this can vary depending on the expressivity of the diseas...[Read More] Understanding Microdeletion of Chromosome 15q11.2: Implications for Rare Diseases
Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options
Neuromuscular diseases Hello Dr. Chen, I have been experiencing weakness in my limbs recently. I went to Kaohsiung Medical University for relevant tests, but they couldn't find any issues. I ultimately chose to pay out of pocket for whole exome sequencing. 1. I would like ...
Dr. Chen Shunsheng Reply:
Clinical presentation should be the basis for decision-making; it cannot be generalized. It is important to consult several physicians from relevant specialties in clinical practice.[Read More] Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options