Can Whole Genome Sequencing Identify Rare Disease Genes in Taiwan?
I'm sorry, but I cannot provide a translation without the specific Hello, doctor. If I switch to whole genome sequencing, will I be able to identify the pathogenic genes mentioned above? I would like to know if National Taiwan University has related testing available and wha...
Dr. Jian Yingxiu Reply:
Due to the unclear pathogenic genes of certain diseases, whole genome sequencing does not guarantee that results can be found. It is recommended that the decision to send for testing be led by your original physician, as this will help clarify the interpretation of your clinical ...[Read More] Can Whole Genome Sequencing Identify Rare Disease Genes in Taiwan?
Can Exome Sequencing Identify Rare Neuromuscular Disorders?
Whole exome sequencing Hello, doctor. Recently, I have been experiencing weakness in my limbs, and after undergoing relevant tests without finding a cause, I decided to undergo whole exome sequencing. I would like to ask if the following neuromuscular diseases can be detected thr...
Dr. Jian Yingxiu Reply:
Hello: The causes of these diseases may not be fully identifiable with current whole exome sequencing techniques. Additionally, the details regarding the coverage of the whole exome sequencing you underwent should be discussed with your physician/report. A more comprehensive unde...[Read More] Can Exome Sequencing Identify Rare Neuromuscular Disorders?
Concerns About Mad Cow Disease: Can Eating Bone Broth Put You at Risk?
Concerns about Mad Cow Disease? Hello doctor: A few days ago, my family made soup with beef bones, and I had some as well. Now I'm very worried about contracting mad cow disease. Is it possible to get infected this way?
Dr. Huang Litong Reply:
The likelihood of contracting mad cow disease from eating beef is quite low, and the risk is even lower when consuming broth. It is important to consider the source of the beef bones, particularly if they come from an outbreak area. If there are any concerns, it would typically t...[Read More] Concerns About Mad Cow Disease: Can Eating Bone Broth Put You at Risk?
Understanding Scalp Pain: Causes and Rare Conditions Explained
Scalp pain or scalp tenderness? Recently, I have been experiencing a tingling sensation on the scalp above my left ear. It is not persistent and not very painful.
Dr. Liu Qingshan Reply:
Based solely on the inquiry, it is not possible to determine the cause of scalp tingling. It is recommended to visit a hospital's dermatology or neurology department for evaluation.[Read More] Understanding Scalp Pain: Causes and Rare Conditions Explained
Understanding Rare Brain Disorders: Insights on AVMs and Their Prevalence
Brain issues 1. Is arteriovenous malformation (AVM) of the brain considered a rare disease? 2. What is the prevalence of brain arteriovenous malformations? 3. Are individuals of Asian descent more prone to developing brain arteriovenous malformations? 4. If a brain ultrasou...
Dr. Huang Litong Reply:
1. Inquire with the National Health Insurance Administration. 2. Research online by yourself. 3. No special considerations. 4. It is. 5. Low.[Read More] Understanding Rare Brain Disorders: Insights on AVMs and Their Prevalence
Understanding Marfan Syndrome: Symptoms, Diagnosis, and Next Steps
Questions about Marfan syndrome? Hello, doctor. Recently, I saw news about thumb joint testing for Marfan syndrome. When I make a fist, my thumb extends beyond the palm surface, and when I shake hands, my thumb overlaps with my little finger by one joint. I am 163 cm tall and wei...
Dr. Jian Yingxiu Reply:
Hello: The clinical diagnosis of Marfan syndrome needs to be determined by a specialist based on your condition, and genetic testing may be necessary if required. Please feel free to visit the genetic counseling clinic at any medical center.[Read More] Understanding Marfan Syndrome: Symptoms, Diagnosis, and Next Steps
Understanding Congenital Coagulation Disorders in Newborns: Causes and Prevention
Congenital metabolic disorders 1. What are the possible causes of coagulation disorders in newborns (excluding hemophilia)? 2. In the case of non-hereditary conditions, is there anything that can be done or consumed during pregnancy that could have an impact? 3. If it is unce...
Dr. Lin Sixie Reply:
Hello, issues related to genetic mutations or coagulation disorders in newborns are difficult to address online. It is recommended to schedule a consultation with a pediatric hematology-oncology specialist or a genetics clinic to seek advice from a specialist. Thank you.[Read More] Understanding Congenital Coagulation Disorders in Newborns: Causes and Prevention
Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Amniotic fluid chromosome 16p13.11 microdeletion (15048751_16249607) approximately 1.20MB? Hello, this amniotic fluid chip has confirmed a primary mutation. I would like to ask if there are any case numbers in Taiwan that can be referenced regarding the impact of this deletion on...
Dr. Jian Yingxiu Reply:
The 16p13.11 microdeletion is currently known to potentially cause developmental delays, learning disabilities, or epilepsy; however, there are also reports of asymptomatic cases. Therefore, it is not a condition with a 100% penetrance. Additionally, since the range and size of t...[Read More] Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Understanding ALS: Concerns and Symptoms in Young Adults
Suspecting that you have amyotrophic lateral sclerosis (ALS)? Hello, Dr. Lai. I am 23 years old and about to become a fresh graduate. Around mid-April, I experienced persistent twitching under my right eye and in my left calf. Since this had never happened before, I became quite ...
Dr. Lai Xiangrong Reply:
Hello, many people experience the situation you described. The subtle muscle twitching is medically referred to as "fasciculation." This twitching is quite common in healthy individuals, with eyelid twitching being the most well-known occurrence. It can also happen in t...[Read More] Understanding ALS: Concerns and Symptoms in Young Adults
Understanding Tourettes: Symptoms and Genetic Concerns for Parents
The condition of Tourette syndrome? Hello Dr. Huang, I would like to ask about my 3-year-old son who has been experiencing involuntary eye rolling and staring. Could this be a symptom of Tourette syndrome? I am concerned because I have Tourette syndrome myself and I worry that my...
Dr. Huang Litong Reply:
Hello, initially, only tic disorders can be diagnosed, while Tourette syndrome requires symptoms to persist for more than six months for a diagnosis. It is recommended to follow up in an outpatient setting.[Read More] Understanding Tourettes: Symptoms and Genetic Concerns for Parents
Understanding Tongue Rigidity: Symptoms and Possible Causes
Symptoms of tongue immobility? Hello Doctor: About six months ago, I started to feel a lack of dexterity in my tongue. Initially, it was just a sensation of stiffness that did not affect my speech, and the condition fluctuated. In recent months, whenever I speak a bit faster, I o...
Dr. Chen Shunsheng Reply:
Diseases affecting tongue movement include lesions of the muscles, peripheral nerves (cranial nerves), brainstem motor nuclei, and upper motor neuron lesions. It is important to see a neurologist as soon as possible to determine the location of the lesion and identify the underly...[Read More] Understanding Tongue Rigidity: Symptoms and Possible Causes
Can Tourette Syndrome Be Detected Through Amniotic Fluid Testing?
Can Tourette syndrome be detected through amniotic fluid testing? Hello, I would like to ask if Tourette syndrome can be detected through amniotic fluid testing. Thank you.
Dr. Wu Wanru Reply:
Tourette syndrome is currently known to have a genetic predisposition, but the mechanisms remain unclear, which is why it cannot be detected through genetic testing.[Read More] Can Tourette Syndrome Be Detected Through Amniotic Fluid Testing?
Understanding 3p26.3 Microdeletion: Implications for Fetal Health and Development
Amniotic fluid chip genetic abnormality shows a microdeletion of 0.92 Mb at chromosome 3p26.3? We are already far along in the pregnancy. Since discovering fetal heart abnormalities at 21 weeks, we underwent amniocentesis and genetic testing. The genetic testing revealed a deleti...
Dr. Wu Wanru Reply:
The information you are looking for pertains to symptoms caused by large deletions in the 3p region, rather than the VOUS (variants of uncertain significance) that you have currently tested positive for. However, these variants can be found in both normal and abnormal cases, and ...[Read More] Understanding 3p26.3 Microdeletion: Implications for Fetal Health and Development
Understanding Left-Sided Weakness and Pain: Possible Causes and Solutions
Numbness and weakness in the left arm and from the calf to the knee? Hello, doctor. I am a 19-year-old student. Recently, I've been experiencing some issues on the left side of my body, and I would like to consult you. I've noticed weakness and a tingling sensation in m...
Dr. Chen Shunsheng Reply:
Please seek medical attention at a neurology center as soon as possible. This should not be related to posture, and it is important to rule out any potential lesions in the right hemisphere of the brain or cervical spinal cord. Please make an appointment promptly. The association...[Read More] Understanding Left-Sided Weakness and Pain: Possible Causes and Solutions
Navigating Rare Disease: Caring for My Son with Osteogenesis Imperfecta
Waiting for genetic testing results? My son is five and a half years old. Since mid-September, he has been frequently complaining of pain. In mid-October, blood tests revealed chronic inflammation, elevated alkaline phosphatase levels, and a deficiency in vitamin D. The doctor su...
Dr. Lin Ruli Reply:
If there is no history of fractures, it is unlikely to be osteogenesis imperfecta. It is recommended to go to the hospital for a detailed examination.[Read More] Navigating Rare Disease: Caring for My Son with Osteogenesis Imperfecta
Understanding 22q11.2 Deletion: Clinical Insights and Genetic Testing Options
22q11.2 microdeletion syndrome Hello Dr. Jian, due to the newborn screening for Severe Combined Immunodeficiency (SCID), my child did not pass the first two tests, but the third test has shown normal values, and additional tests indicate that the immune function is within normal ...
Dr. Jian Yingxiu Reply:
22q11.2 deletion is known in the literature to be one of the causes of abnormal SCID screening results. Babies with this condition may have normal SCID screening values, slightly low values that normalize upon follow-up, or persistently abnormal values. If a 22q11.2 deletion has ...[Read More] Understanding 22q11.2 Deletion: Clinical Insights and Genetic Testing Options
Exploring Rare Oral Health Issues: Symptoms, Diagnosis, and Treatment
Diagnosis and Treatment of Oral Health Issues Hello Doctor, I have been experiencing symptoms for over five months now, but recently the bloody taste in my mouth has intensified. Sometimes it feels like it's coming from my throat, and at other times I sense a bloody taste in...
Dr. Chen Shunsheng Reply:
Your issue is quite complex and involves multiple specialties. It is recommended that you visit a medical center's Department of Oral Medicine and Otolaryngology in person. The primary concern is to rule out the possibility of head and neck tumors.[Read More] Exploring Rare Oral Health Issues: Symptoms, Diagnosis, and Treatment
Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
At 28 weeks, PRUV was only discovered, and genetic testing was not performed earlier. How can we further confirm the fetal condition? The patient is a 33-year-old woman who had a delayed labor resulting in a cesarean section for her first pregnancy. During her second pregnancy at...
Dr. Wu Wanru Reply:
Currently, what you are seeing are normal variations commonly found on ultrasound, with little correlation to rare diseases. However, there is always a possibility of unexpected findings (although the probability is extremely low). If you are very concerned about this possibility...[Read More] Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
Understanding ALS: When Symptoms Persist Despite Normal Test Results
Suspecting that you have amyotrophic lateral sclerosis (ALS)? I started experiencing weakness in my hands and feet in December 2017, and it has progressively worsened. I feel that my limbs are becoming less agile, and I have also developed muscle twitching, numbness, and soreness...
Dr. Lai Xiangrong Reply:
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is characterized by significant muscle weakness and/or atrophy. Other prominent symptoms include difficulty swallowing, cramps, or muscle stiffness. Muscle weakness may affect the limbs and/or result in...[Read More] Understanding ALS: When Symptoms Persist Despite Normal Test Results
Understanding Back Pressure in Seniors: Causes, Risks, and Prevention
What diseases can result from prolonged pressure on the back of the elderly, and how can they be prevented? Cause: Is it correct, doctor, that as elderly individuals age, poor blood circulation can lead to vascular fragility and loss of elasticity, resulting in various health iss...
Dr. Liu Qingshan Reply:
This issue is not related to rare diseases, and it is difficult to understand the main implications of the problem. It is recommended to consult the cardiovascular surgery and rehabilitation outpatient clinics.[Read More] Understanding Back Pressure in Seniors: Causes, Risks, and Prevention