Rare Disease Q&A - Page 11

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Managing Fetal Kidney Cysts: What Parents Need to Know

What should be done if there are cysts in the fetal kidneys? Hello Dr. Chen, I was referred to you as an expert in fetal treatment. Due to work commitments, I haven't been able to schedule an appointment with you, but I am concerned about my child and would like to ask you...


Dr. Chen Ming Reply:
This is a relatively common condition, especially in older mothers who should have undergone amniocentesis. If the chromosomes are normal and there is unilateral hydronephrosis or pathology, as long as the other kidney is healthy, my opinion is that it is possible to continue the...

[Read More] Managing Fetal Kidney Cysts: What Parents Need to Know


Understanding Red Urine in Infants: Causes and When to Seek Help

The child has slightly red urine? Dear Doctor, I would like to ask about my 5-month-old son. He is currently under the care of a nanny and only comes home on weekends. I haven't noticed any symptoms before, but in the past month, I've observed that his urine has a yell...


Dr. Xu Shanjing Reply:
Dear Xiaoyu, For a 5-month-old boy, the urine color is yellowish (with a hint of orange), and there is a localized area with a reddish color. It is necessary to rule out certain special substances or hematuria. I recommend consulting a pediatric nephrologist for a urine analysis...

[Read More] Understanding Red Urine in Infants: Causes and When to Seek Help


Understanding Rare Hair Loss in Children: A Parent's Journey

Alopecia areata Hello Dr. Jian, my child is 10 years old this year. He was hospitalized for pneumonia in April 2005 and received the pneumococcal vaccine at the end of May 2005. By early June, he lost all his body hair. Subsequently, the doctor referred us to the dermatology depa...


Dr. Jian Yingxiu Reply:
Your question is quite complex and requires consultation with an immunologist. Thank you.

[Read More] Understanding Rare Hair Loss in Children: A Parent's Journey


Understanding Addison's Disease: Symptoms, Signs, and Human Impact

Addison's disease I would like to ask about the symptoms and signs of Addison's disease. What are they? Does this only occur in puppies? Can it happen in humans as well? Is there medical evidence for this? Thank you!


Dr. Jian Yingxiu Reply:
Addison's disease is a condition caused by adrenal insufficiency. For information regarding symptoms, please refer to relevant medical literature. If you suspect you have related symptoms, please consult an internist.

[Read More] Understanding Addison's Disease: Symptoms, Signs, and Human Impact


Inside the Mind: The Disturbing Case of Covert Implant Surveillance

Implantation of evoked potential sensors and electronic ears in the body? In mid-April 2005, in a suite next to the New Building Hospital on Dongmen Road Section 1 in Tainan City, I was harassed, threatened, and maliciously framed for four years by corrupt police officers and the...


Dr. Chen Shunsheng Reply:
Recommendations: 1. Judicial investigation 2. Psychiatric evaluation and treatment

[Read More] Inside the Mind: The Disturbing Case of Covert Implant Surveillance


Addressing Growth Delays in Children: Understanding Rare Disorders

Growth delay issues!! Hello! My child is a boy, born in November 2004. He is currently 101 cm tall and weighs 14.5 kg. Last time, he had a cold and we took him to see Dr. Long Yao-jin at Madou New Building Hospital. Dr. Long suggested that we take our child to you for an evaluati...


Dr. Lin Xiujuan Reply:
A boy born in November 2004 is currently 4 years and 3 months old (or 4 years old if born before November 3). 1. For a 4-year and 3-month-old boy, a height of 101 cm is in the 10-25th percentile, and a weight of 14.5 kg is in the 3-10th percentile. His height and weight can be mo...

[Read More] Addressing Growth Delays in Children: Understanding Rare Disorders


Understanding Why Pain is Concentrated on the Right Side of the Body

Why is all the pain concentrated on the right side of the body? 1. I previously had a deviated septum on the right side, which caused respiratory interference and chronic nasal congestion. I underwent surgery to correct it, but I suspect that the condition may have developed due ...


Dr. Chen Shunsheng Reply:
The lesions are concentrated on the right side of the body and occur only with lesions in the left hemisphere of the brain or the upper brainstem, such as brain lesions causing cerebral palsy. However, many of the symptoms you mentioned are unrelated to the aforementioned conditi...

[Read More] Understanding Why Pain is Concentrated on the Right Side of the Body


Understanding Pediatric Bilateral Periventricular Leukomalacia: Causes and Effects

Children's bilateral periventricular leukomalacia? What is pediatric bilateral periventricular leukomalacia? A 2-year and 7-month-old child has reasonable mobility but poor language expression and has experienced episodes of unresponsiveness. Please help me answer this quest...


Dr. Jian Yingxiu Reply:
Periventricular leukomalacia (PVL) occurs when the white matter of the brain is damaged, often due to prior injury. It is most commonly seen in premature infants or those with intrauterine infections. Regarding treatment and prognosis, these vary depending on the underlying cause...

[Read More] Understanding Pediatric Bilateral Periventricular Leukomalacia: Causes and Effects


Understanding Pediatric Bilateral Periventricular Leukomalacia: Symptoms and Care

Bilateral periventricular leukomalacia What is pediatric left and right periventricular leukomalacia? Currently, the child is 2 years and 7 months old, has reasonable mobility, but poor language expression, and has experienced episodes of unresponsiveness. Please help me answer t...


Dr. Jian Yingxiu Reply:
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[Read More] Understanding Pediatric Bilateral Periventricular Leukomalacia: Symptoms and Care


Understanding Citrullinemia Type I: Treatment Options and Liver Transplant Considerations

Citrullinemia My child has been diagnosed with Argininemia Type I, a rare disease, and is currently on a low-protein diet for management. Is there a definitive treatment for this condition? Would a liver transplant be recommended? If so, would lifelong immunosuppressive medicatio...


Dr. Jian Yingxiu Reply:
If this condition is confirmed, liver transplantation can be considered as a treatment option. If the liver transplant is successful, normal dietary habits can be resumed without the concern of recurrent hyperammonemia. However, it is important to consider the risks associated wi...

[Read More] Understanding Citrullinemia Type I: Treatment Options and Liver Transplant Considerations


Understanding Eligibility for Major Illness Card with Rare Disease List

Rare Disease List Summary Table Hello, may I ask if the rare disease list announced by the Department of Health includes item number 68, Wilms' tumor, aniridia, genital abnormalities, and intellectual disability syndrome (WAGR syndrome)? Can one apply for a major illness car...


Dr. Jian Yingxiu Reply:
To apply for this major illness card, one must meet the criteria for WAGR syndrome. Some patients may not exhibit all clinical features, which include Wilms tumor, aniridia, genital abnormalities, and intellectual disability. Therefore, the diagnostic method relies on molecular t...

[Read More] Understanding Eligibility for Major Illness Card with Rare Disease List


Understanding DiGeorge Syndrome: Symptoms, Types, and Treatment Options

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small segment of chromosome 22. It is Hello! What are the clinical manifestations of DiGeorge syndrome, and are there different types? What are the treatment options? If a ...


Dr. Lin Xuanpei Reply:
DiGeorge syndrome is a congenital disorder caused by a deletion in the long arm of chromosome 22 at the 22q11.2 region, also known as CATCH22 (which stands for cardiac abnormalities, T cell deficit, clefting, and hypocalcemia; however, a small number of patients may have deletion...

[Read More] Understanding DiGeorge Syndrome: Symptoms, Types, and Treatment Options


Understanding Yellowing Eyes: Is It Related to Liver Function?

Liver function The whites of my eyes always appear yellow, and I have sufficient sleep. I wonder if this is related to liver function? I do not have antibodies for Hepatitis B, so I need to get vaccinated for Hepatitis B. I have oily skin and have been experiencing acne since gra...


Dr. Hou Jiawei Reply:
1. If the sclera (the white part of the eye) appears yellow, it is important to check for jaundice. It is recommended to have a blood test to assess liver function, as well as an ultrasound and bilirubin levels. 2. Oily skin is more prone to acne. In addition to facial cleansin...

[Read More] Understanding Yellowing Eyes: Is It Related to Liver Function?


Understanding CNP Growth Factor for Achondroplasia Treatment in Taiwan

Regarding medications for achondroplasia? Hello, doctor! I would like to ask about medications for achondroplasia. I have seen other websites introducing "CNP protein growth factor" as a medication for patients with achondroplasia. I would like to know if "CNP prot...


Dr. Hou Jiawei Reply:
CNP (C-type natriuretic peptide) growth factor was proposed in 2005 by a research team led by Professor Kazuhisa Nakao at Kyoto University, based on experiments conducted on mice, suggesting it may help individuals with achondroplasia to increase height. This drug has not yet bee...

[Read More] Understanding CNP Growth Factor for Achondroplasia Treatment in Taiwan


Understanding Growth Delays: When to Seek Medical Advice for Your Child

Growth retardation My child is in the third grade of elementary school, but their height is only 120.2 cm. Their daily routine is normal, appetite is good, and they are very active. The mother is 152 cm tall and the father is 170 cm tall. Should I be concerned that this is a meta...


Dr. Xu Shanjing Reply:
It is generally necessary to know whether the child is a boy or a girl. A height of 120.2 cm corresponds to an 8-year-old child. If the child is 9 years old, this height would be considered short, falling below the 2nd percentile; otherwise, it is within the normal range. The mos...

[Read More] Understanding Growth Delays: When to Seek Medical Advice for Your Child


New Treatments and Research for Rare Motor Neuron Diseases

Motor neuron disease? Hello: Dingxiang is your Chang Gung patient. Currently residing in Australia. I would like to inquire if there are any new drugs or methods available for treating this condition (muscle atrophy and progressive muscular atrophy).


Dr. Chen Shunsheng Reply:
Please visit my blog for related articles: Professor Chen's blog: http://tw.myblog.yahoo.com/neuron-neuron, especially on: Neurology.

[Read More] New Treatments and Research for Rare Motor Neuron Diseases


Understanding ALS: Is It the Same as Lou Gehrig's Disease?

Amyot Amyotrophic lateral sclerosis (ALS) and Lou Gehrig's disease refer to the same condition. ALS is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord, leading to muscle weakness, atrophy, and eventually paralysis. The term &qu...


Dr. Jian Yingxiu Reply:
ALS, or Amyotrophic Lateral Sclerosis, commonly known as Lou Gehrig's disease, is a progressive neurodegenerative disorder that affects motor neurons in the brain and spinal cord. For a detailed introduction, please refer to Dr. Yang Chih-Chao from the Department of Neurolog...

[Read More] Understanding ALS: Is It the Same as Lou Gehrig's Disease?


Understanding Congenital Adrenal Hypoplasia: Key Questions and Testing Options

Congenital Adrenal Hyperplasia Thank you, Dr. Hou, for your previous response. I have the following questions: 1. The physician at National Taiwan University informed me that the genes and chromosomes are normal. If this condition is caused by genetic and chromosomal factors, sho...


Dr. Hou Jiawei Reply:
1. This disease typically has normal chromosomes and is caused by single-gene abnormalities, with more common (to be tested first) and less common (testing for corresponding genes after the more common ones are found to be normal) genetic variations. 2. Sometimes, blood tests for...

[Read More] Understanding Congenital Adrenal Hypoplasia: Key Questions and Testing Options


How Often Should You Assess Adrenal Function in Congenital Adrenal Insufficiency?

Congenital Adrenal Hyperplasia (CAH) How often should adrenal function assessments be performed?


Dr. Hou Jiawei Reply:
Congenital adrenal hypoplasia can be caused by deletions of the DAX-1 gene on the X chromosome or the SF1 gene on chromosome 9. After pharmacological treatment, adjustments to the medication dosage should be made every 1-3 months based on blood pressure, electrolyte levels, and s...

[Read More] How Often Should You Assess Adrenal Function in Congenital Adrenal Insufficiency?


Understanding Growth Disorders in Children: Causes and Solutions

Pediatric Growth Abnormalities Dear Dr. Jian, My son is a sixth grader and stands at 179.5 cm tall. While many parents would be pleased with such height, he has several concerning issues that I would like your advice on regarding management or further medical evaluation. 1. He ...


Dr. Jian Yingxiu Reply:
In this situation, in addition to parathyroid issues, it may be necessary to consider structural abnormalities of the bones or other congenital metabolic disorders. It is recommended that you bring your previous test results and promptly visit a genetic counseling clinic at a med...

[Read More] Understanding Growth Disorders in Children: Causes and Solutions




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