Rare Disease Q&A - Page 29

Share to:
Understanding Perticnel Abscess: A Rare Medical Condition Explained

Peritonsillar abscess Hello! It seems there might be a slight misspelling in the term you provided. The correct term is likely "peritonsillar abscess," which refers to a collection of pus that forms near the tonsils, typically as a complication of tonsillitis. It can ca...


Dr. Lin Qingyuan Reply:
Xiao Ting: I believe it's a typo! Could you please tell me the patient's symptoms? For example, where is the abscess located? Then I can respond! Professor Lin Qingyuan replied.

[Read More] Understanding Perticnel Abscess: A Rare Medical Condition Explained


Understanding Mediterranean Anemia: Risks, Genetics, and Pregnancy Concerns

Mediterranean anemia Hello Dr. Jian, I would like to ask about issues related to thalassemia. My boyfriend had to undergo a medical examination, and after three blood tests, he was diagnosed with severe thalassemia. The lab technician was astonished that he has lived to 25 year...


Dr. Jian Yingxiu Reply:
Severe thalassemia should still be treated with blood transfusions. It is unclear whether he has undergone further testing to determine the specific type and its genotype. As for whether your children will inherit it, it is advisable to undergo premarital screening to check if yo...

[Read More] Understanding Mediterranean Anemia: Risks, Genetics, and Pregnancy Concerns


Dietary Considerations for Patients with Glycogen Storage Disease

Glycogen storage disease (GSD) refers to a group of inherited metabolic disorders characterized by the abnormal accumulation of glycogen in various tissues, primarily the liver and muscles. These conditions arise from deficiencies in specific enzymes involved in glyc Hello Dr. Li...


Dr. Lin Qingyuan Reply:
The diet should be "high in protein and low in carbohydrates," with protein making up 25-30% of total caloric intake (compared to the normal 12%). Carbohydrates should be reduced to 44% (whereas they typically account for 55-60%). It is important to exercise regularly t...

[Read More] Dietary Considerations for Patients with Glycogen Storage Disease


Understanding the Impact of Sulfite Oxidase Deficiency Beyond the Nervous System

Sulfite oxidase Hello Dr. Lin: May I ask, besides the toxic reactions in the nervous system, what other organs or tissues may be affected in a 3.5-year-old child with sulfite oxidase deficiency?


Dr. Lin Xuanpei Reply:
We have received your message and will do our best to assist you. However, we are unable to read the Chinese medical terms. Please provide the full English names so we can respond accordingly.

[Read More] Understanding the Impact of Sulfite Oxidase Deficiency Beyond the Nervous System


Understanding Hair Breakage in Children: Causes and When to Seek Help

Hair is broken in the middle? Hello, I would like to ask a question. My nine-year-old niece has recently been experiencing frequent natural breakage of her hair. The hair is not breaking at the roots but rather in the middle, and it's not just one strand but about a small bu...


Dr. Xiao Huibin Reply:
Hair breakage is usually caused by scalp infections or issues with the hair quality itself, and it is advisable to consult a dermatologist for treatment. If there is also a lighter hair color or curling phenomenon, it may indicate a metabolic disorder (such as deficiencies in zin...

[Read More] Understanding Hair Breakage in Children: Causes and When to Seek Help


Concerns Over SARS Exposure: A Call for Transparency and Safety

SARS (Severe Dear Director, I am writing anonymously as a member of the Matsu Defense Command due to concerns about potential repercussions for speaking out. Recently, I saw news reports about a SARS incident at Peace Hospital. Notably, one of my fellow soldiers, Corporal Yen Fa...


Dr. Wang Baotian Reply:
We recommend that you address your concerns to the health authorities.

[Read More] Concerns Over SARS Exposure: A Call for Transparency and Safety


Understanding Statutory Infectious Diseases in Taiwan: A Comprehensive Overview

Statutory infectious diseases What are the currently recognized statutory infectious diseases in the country?


Dr. Wang Baotian Reply:
In Taiwan, legally mandated infectious diseases are classified into four categories, comprising over thirty types. This includes rabies, cholera, smallpox, plague, typhoid fever, malaria, scarlet fever, and diphtheria, among others. Among these four categories, Category I is the ...

[Read More] Understanding Statutory Infectious Diseases in Taiwan: A Comprehensive Overview


Understanding the Transmission Routes of SARS: Key Insights

Transmission routes of SARS? What are the transmission routes of SARS?


Dr. Wang Baotian Reply:
My expertise is in genetic disorders. For questions related to SARS, please consult an infectious disease specialist or the Centers for Disease Control.

[Read More] Understanding the Transmission Routes of SARS: Key Insights


Understanding Otosclerosis: Treatment Options and Medication Insights

Otosclerosis Hello Dr. Jian: A classmate's mother has otosclerosis, and I would like to ask you: 1. How is this condition treated? 2. Are there any medications that can help manage it? 3. If medication is available for management, can the doctor prescribe a long-term prescri...


Dr. Jian Yingxiu Reply:
Most patients with otosclerosis can be treated surgically by drilling a small hole in the stapes footplate and inserting a piston to replace the function of the hardened ossicle. For patients who are unable or unwilling to undergo surgery, hearing aids can be used. As for the ora...

[Read More] Understanding Otosclerosis: Treatment Options and Medication Insights


Long-Term Effects of XANAX: Struggling with Rare Side Effects and Recovery

Long-term use of XANAX can lead to an inability to function normally? Hello, doctor: After taking XANAX, I experienced severe physical debilitation that has persisted even after discontinuing the medication for a long time. I read that there are cases of paralysis associated with...


Dr. Jian Yingxiu Reply:
Based on your description, there may be issues beyond medication. Please seek assistance from a psychiatrist and a neurologist. Thank you.

[Read More] Long-Term Effects of XANAX: Struggling with Rare Side Effects and Recovery


How to Access Medications for Rare Diseases: A Guide

Rare diseases Hello Dr. Jian, I would like to ask how medications for rare diseases are generally obtained.


Dr. Jian Yingxiu Reply:
At National Taiwan University Hospital, we have some commonly used medications for rare diseases available. If the indications for use are met, prescriptions can be directly filled at our pharmacy by the physician. For non-routine medications, if there is an urgent need, inquirie...

[Read More] How to Access Medications for Rare Diseases: A Guide


Understanding Rare Neurological Disorders: A Patient's Struggle

Nerve Hello, Dr. Yeh. My condition involves erratic electrical discharges from my lumbar spine, and I feel a lot of movement in my abdominal cavity as well as in my right side. The sensations are highly variable; sometimes they come and go, which has made it difficult for me to s...


Dr. Ye Poxiu Reply:
Hello Grace: Regarding your question, I am unable to provide an answer here. I recommend that you visit a neurology or psychiatry outpatient clinic at a relevant medical institution for further evaluation and treatment.

[Read More] Understanding Rare Neurological Disorders: A Patient's Struggle




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