Understanding Vasculitis: Insights on Rare Disease Management and Resources
Vasculitis Hello, Doctor. I would like to inquire about the condition of vasculitis. My sister-in-law is 34 years old and was hospitalized last month due to pneumonia. Later tests revealed that she also has glomerulonephritis. Based on her blood tests, her ANCA levels are elevate...
Dr. Lin Qingyuan Reply:
Since you are already 34 years old, I recommend seeing an adult nephrologist. May I ask where your sister-in-law lives for a proper referral?[Read More] Understanding Vasculitis: Insights on Rare Disease Management and Resources
Understanding Tourette Syndrome: Seeking the Right Specialist for Treatment
How to treat Tourette syndrome? Hello Dr. Lin, My brother is a patient with Tourette syndrome. He is currently a 24-year-old male facing military service issues. Our family has only gradually realized over the past 20 years that this is a medical condition. My father is concerne...
Dr. Lin Guanglin Reply:
You can visit the adult neurology department at major hospitals or consult Dr. Wang Hui-Hsiung at Chang Gung Children's Hospital.[Read More] Understanding Tourette Syndrome: Seeking the Right Specialist for Treatment
Understanding Brain Aneurysm Surgery: Recovery Tips and Care
Cerebral Aneurysm Surgery Hello, doctor. I would like to ask you some questions regarding the surgery for a brain aneurysm. My mother experienced sudden, severe pain in her head, feeling as if it was about to explode, while riding her motorcycle in early May this year. She had no...
Dr. Qian Xinnan Reply:
The Tri-Service General Hospital responded on September 20, 2004, at 10:04 AM. I hope you have received this. It is a very good question to understand the treatment situation for hemangiomas. First, it is essential to discuss with the physician treating your mother to gain a bett...[Read More] Understanding Brain Aneurysm Surgery: Recovery Tips and Care
Understanding Salivary Gland Tumors: What You Need to Know
Salivary glands My sister has a tumor in her salivary gland, and the doctor said she needs surgery. What does this mean?
Dr. Qian Xinnan Reply:
Hello, A-Lu: Given that your inquiry is not written in standard Chinese and the description of your condition is unclear, could you please write again with more detailed information? Alternatively, we recommend that patients in need visit the Hematology Department at Tri-Service ...[Read More] Understanding Salivary Gland Tumors: What You Need to Know
Prenatal Screening Options for Non-Ketotic Hyperglycinemia
Non-ketotic hyperglycinemia Dr. Lin, my first child had non-ketotic hyperglycinemia and passed away two weeks later due to our decision to discontinue aggressive treatment. I would like to ask if there are any prenatal screening options available to check if our next child is hea...
Dr. Lin Xuanpei Reply:
According to my knowledge, the prenatal diagnosis of "non-ketotic hyperglycinemia" in the country still requires sending samples abroad for testing to ensure accuracy, primarily relying on genetic testing, as enzyme analysis has its limitations. Related matters and reli...[Read More] Prenatal Screening Options for Non-Ketotic Hyperglycinemia
Understanding Tourette Syndrome: Symptoms, Longevity, and Treatment Options
About Tourette Syndrome? Tourette syndrome symptoms can persist throughout a person's life, but they generally become milder after puberty. Typically, 30-40% of affected children experience a natural resolution of symptoms after adolescence, while 30% see a significant reduc...
Dr. Hou Zhigong Reply:
1. Not all body movements are necessarily Tourette syndrome. First, she must see a qualified neurologist for an evaluation to determine whether she has this condition or if there are other possibilities. 2. Tourette syndrome is not curable; it only presents with varying degrees o...[Read More] Understanding Tourette Syndrome: Symptoms, Longevity, and Treatment Options
Understanding Neonatal Hypoxia: Essential Tests and Considerations
Pediatric Hypoxia Hello Dr. Lin, I apologize for reaching out, but your name is only found among the specialists in rare diseases. My sister gave birth to a baby boy today, and the attending physician mentioned that the baby exhibited signs of respiratory distress after birth, s...
Dr. Lin Guanglin Reply:
Based on your description, it is not possible to determine if there is hypoxia. Currently, regular developmental follow-ups with a pediatrician are sufficient. If there are concerns, a cranial ultrasound can be performed.[Read More] Understanding Neonatal Hypoxia: Essential Tests and Considerations
Understanding Emery-Dreifuss Muscular Dystrophy: Symptoms, Genetics, and Treatment Options
Emery-Dreifuss Muscular Dystrophy (EDMD) is a genetic disorder characterized by muscle weakness and wasting, joint Hello Doctor: Since childhood, I have been diagnosed with muscular dystrophy by doctors at National Taiwan University and Veterans General Hospital, although I am un...
Dr. Lin Guanglin Reply:
Emery-Dreifuss Muscular Dystrophy is inherited in an X-linked manner, and there is currently no specific medication for treatment. For detailed medical evaluation, please consult Dr. Luo Rongsheng at the Neurology Department of Linkou Chang Gung Memorial Hospital.[Read More] Understanding Emery-Dreifuss Muscular Dystrophy: Symptoms, Genetics, and Treatment Options
Understanding Involuntary Limb Movements: Possible Rare Disorders Explained
Involuntary limb movements? My girlfriend occasionally experiences involuntary movements of her limbs while walking, and even her body or neck may twist! She mentioned that she and her brother have noticed this condition since childhood, but they do not know the cause, and it has...
Dr. Jian Yingxiu Reply:
Generally speaking, if the symptoms have been present since childhood, they are likely not related to Huntington's disease, but rather may be attributed to Tourette syndrome or other issues. Thank you.[Read More] Understanding Involuntary Limb Movements: Possible Rare Disorders Explained
Understanding Rare Conditions: Enlarged Thumbs in Children
Thumb Hello, I have a relative whose child has had unusually large big toes since birth. I have heard that this could be a rare condition. Is that true? Thank you for your response.
Dr. Hou Jiawei Reply:
The presence of an unusually large thumb or big toe may indicate a rare condition known as Rubinstein-Taybi syndrome, which is often associated with facial dysmorphisms and abnormalities of the reproductive and urinary systems. A thorough evaluation and early intervention are rec...[Read More] Understanding Rare Conditions: Enlarged Thumbs in Children
Understanding Meckel's Diverticulum: Causes and Long-Term Effects
Mekosh's chamber Could you explain the causes of Meckel's diverticulum? My parents always talk about it unclearly, but I really want to understand. Will there be any long-term effects as I grow up?
Dr. Qian Xinnan Reply:
1. Meckel's diverticulum is a congenital small pouch located on the wall of the distal ileum. The majority of patients are asymptomatic and do not require special treatment. Only a small number (approximately 1 in 25) of patients may present with gastrointestinal bleeding in...[Read More] Understanding Meckel's Diverticulum: Causes and Long-Term Effects
Understanding Carnitine-Acyl Carnitine Translocase Deficiency in Infants
Xu Xu has been diagnosed with a rare disease..? A friend's child, Xu Xu, has been diagnosed with a rare congenital metabolic disorder known as carnitine-acylcarnitine translocase deficiency. The symptoms include "seizures," "developmental delays," "l...
Dr. Jian Yingxiu Reply:
Xu Xu does not have carnitine-acylcarnitine translocase deficiency; the details have been explained to the parents.[Read More] Understanding Carnitine-Acyl Carnitine Translocase Deficiency in Infants
Exploring New Treatments for Vitiligo: Can Taiwan Keep Up?
Epilepsy Vitiligo has long been considered a condition caused by genetic defects, but researchers at the China Academy of Chinese Medical Sciences in Beijing have developed a potential cure! Is Taiwan currently capable of providing a cure, or is seeking treatment only possible in...
Dr. Jian Yingxiu Reply:
Please consult your dermatologist for an accurate diagnosis and the latest treatment options.[Read More] Exploring New Treatments for Vitiligo: Can Taiwan Keep Up?
Understanding Ectodermal Dysplasia: Coping with Rare Disease Challenges
Ectodermal dysplasia Dear Dr. Lin, I am your patient (the younger sister of two siblings) and I would like to ask if there are any results from our diagnostic tests. I am feeling extremely stressed; my in-laws are unaware of my condition, and my husband is also under significant...
Dr. Lin Ruli Reply:
Yulan: Genetic testing is a time-consuming and labor-intensive process, especially since the genes causing your symptoms have not yet been identified. I will do my best, but I cannot guarantee that we will find an answer. Mingchun has already provided you with some treatment reco...[Read More] Understanding Ectodermal Dysplasia: Coping with Rare Disease Challenges
Common Health Conditions Associated with Intellectual Disabilities: Care Tips and Support
What types of diseases are commonly associated with individuals with intellectual disabilities? What types of diseases are commonly associated with individuals with intellectual disabilities? What should we pay attention to when interacting with them, and how can we assist them? ...
Dr. Lin Ruli Reply:
Intellectual disability is actually just one of the clinical manifestations of numerous disorders. Theoretically, it is essential to understand the underlying causes first, and then provide appropriate assistance based on the level of intellectual impairment.[Read More] Common Health Conditions Associated with Intellectual Disabilities: Care Tips and Support
Understanding Porphyria: A Guide for Patients and Families
Porphyria This patient is a 21-year-old male who presented with abdominal pain, and the emergency department at Cathay General Hospital confirmed a "suspected porphyria." The family is unsure which specialist to consult, so they have requested Dr. Jian's assistance...
Dr. Jian Yingxiu Reply:
Thank you.[Read More] Understanding Porphyria: A Guide for Patients and Families
Understanding Arteriovenous Malformations: Causes and Genetic Links
Arteriovenous malformation (AVM) Hello Dr. Jian: May I ask you, what are the causes of arteriovenous malformations? Do they have a hereditary component? If one parent has hereditary varicose veins and vascular malformations (commonly known as port-wine stain hemangiomas), could t...
Dr. Jian Yingxiu Reply:
The exact cause of arteriovenous malformations (AVMs) is currently unclear. AVMs associated with certain syndromes may be hereditary, while the commonly known capillary malformation (port-wine stain) typically does not lead to hereditary AVMs in the next generation. A detailed as...[Read More] Understanding Arteriovenous Malformations: Causes and Genetic Links
Understanding Hyperchromic Anemia: Causes, Care, and Thyroid Connection
Hypochromic anemia? Hello, Dr. Qian. Recently, a friend of mine opened a laboratory, and after a blood test, he told me that I have hyperchromic anemia. I still don't understand this condition. I searched for information online but couldn't find much, so I turned to you...
Dr. Qian Xinnan Reply:
1. Triiodothyronine (T3) levels may be associated with anemia or other diseases. It is recommended that patients in need seek consultation with a hematologist as soon as possible for further examination and relevant advice from a physician. 2. The online appointment booking websi...[Read More] Understanding Hyperchromic Anemia: Causes, Care, and Thyroid Connection
Unexplained Facial Atrophy: Seeking Answers for Rare Conditions
Facial atrophy of unknown origin? Hello Doctor, I have noticed a depression on my forehead over the past two years, accompanied by occasional tightness and mild pain. In cold weather, I even experience a sensation of numbness on the left side of my face. Earlier this year, I visi...
Dr. Chen Shunsheng Reply:
It sounds very much like hemifacial lipodystrophy. It is recommended to consult a neurologist specializing in neuromuscular diseases or an experienced rheumatologist.[Read More] Unexplained Facial Atrophy: Seeking Answers for Rare Conditions
Understanding Ichthyosis: Life Expectancy, Fertility, and Historical Context in Taiwan
Ichthyosis is a genetic skin disorder characterized by dry, scaly skin. It results from a defect in the skin's ability to Hello Dr. Zhao: I would like to ask how long patients with ichthyosis typically live. Do they still have reproductive capabilities? Is it possible for in...
Dr. Zhao Meiqin Reply:
Hello, Xiaorong: There are many different types of ichthyosis based on its etiology, with at least over seven types identified. In severe cases, infants may suffer from critical conditions leading to death, while those who survive often experience continuous skin keratinization a...[Read More] Understanding Ichthyosis: Life Expectancy, Fertility, and Historical Context in Taiwan