Other, Rare Disease FAQ - Page 4

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Understanding Myasthenia Gravis: A Daughter's Concern for Her Mother's Health

Myasthenia Gravis - Symptoms in Mothers? Hello Dr. Chen, my mother is currently 65 years old. Previously, she had difficulty speaking clearly and consulted many doctors in Kaohsiung and underwent a full health check-up. Some doctors said there was no problem, while others suggest...


Dr. Chen Shunsheng Reply:
My email had some issues with Apple, which is why I'm only able to respond now. The elderly patient has developed new-onset myasthenia gravis, and it is essential to investigate the underlying cause. Additionally, there is indeed a problem with aspiration pneumonia.

[Read More] Understanding Myasthenia Gravis: A Daughter's Concern for Her Mother's Health


Understanding Blue Sclera in Infants: Causes and When to Seek Help

The sclera of the daughter appears bluish? Dear Dr. Jian, Hello. My daughter is currently about 82 days old. Around the age of 2 months, I suddenly noticed that her sclera appears bluish. She was born weighing 3432 grams and measuring 51 centimeters. Her current weight is approx...


Dr. Jian Yingxiu Reply:
It is normal for some babies to have a blue sclera. Please check if there are other family members with blue sclera, and monitor the baby's height and weight, as well as any unusual or excessive crying. Thank you.

[Read More] Understanding Blue Sclera in Infants: Causes and When to Seek Help


Managing Low Platelet Counts: A Family's Struggle with Rare Disease

Thrombocytopenia? Hello Doctor: My mother has been experiencing low platelet counts and visited a nearby hospital, where she was seen by an oncologist. Initially, her blood tests showed a platelet count of 33,000 and a white blood cell count of 8,000 to 9,000, while other routine...


Dr. Jian Yingxiu Reply:
Your mother's condition is quite complex, but it is still important to discuss with the hematologist whether to switch to other stronger medications for treating thrombocytopenia or to consider direct transfusions to manage the need for surgery.

[Read More] Managing Low Platelet Counts: A Family's Struggle with Rare Disease


Understanding Low Platelet Counts: Risks and Recovery Insights

Thrombocytopenia I would like to ask the doctor, does receiving a blood transfusion during surgery increase the risk of the procedure? Is that the case? Also, given my mother's condition, is it possible for her white blood cells to recover to their normal state? My mother fe...


Dr. Jian Yingxiu Reply:
You should discuss with your physician which issue needs to be addressed more urgently. If the low white blood cell count is due to the pharmacological effects of medication, it should recover after discontinuing the drug for a period of time.

[Read More] Understanding Low Platelet Counts: Risks and Recovery Insights


Understanding Low Platelet Count: Treatment Options and New Medications

Thrombocytopenia Hello, Doctor. I previously inquired about my mother, who was hospitalized due to low white blood cell counts caused by immunosuppressive therapy. The doctor mentioned that her white blood cell count has stabilized, and her recent blood test showed a count of 200...


Dr. Lin Sixie Reply:
Typically controlled with steroids, if the effect is unsatisfactory, consider Nplate (romiplostim) subcutaneous injection. Please discuss with your physician. Wishing you a speedy recovery.

[Read More] Understanding Low Platelet Count: Treatment Options and New Medications


Managing Low Platelets and White Blood Cell Count: A Patient's Journey

Treatment for thrombocytopenia and leukopenia? Hello, doctor. I would like to ask you about my mother. She previously had a low platelet count of around 20,000 and was treated at Changhua Christian Hospital. The doctor prescribed steroids (Dexamethasone) and an over-the-counter g...


Dr. Lin Sixie Reply:
Based on your description, your mother may have idiopathic thrombocytopenic purpura. However, it is important to rule out the possibility of infection or tumors. Bone marrow examination is normal, which excludes the possibility of aplastic anemia. The low white blood cell count m...

[Read More] Managing Low Platelets and White Blood Cell Count: A Patient's Journey


Can I Have a Healthy Baby After Taking Conquer Tab 1200mg During Pregnancy?

Is it safe to take Conquer Tab 1200mg while pregnant? Will the child be born healthy? Hello Doctor, I am Wu Meifeng's mother. I recently learned that I successfully conceived in February and am now about one month pregnant. However, I was unaware of my pregnancy while taking...


Dr. Chen Ming Reply:
The medication Mebendazole is indeed not very safe from a pharmacological standpoint. Please consult a physician specializing in genetic counseling in the obstetrics and gynecology department at a nearby medical center. Personally, I also believe it is not very safe. If you wish ...

[Read More] Can I Have a Healthy Baby After Taking Conquer Tab 1200mg During Pregnancy?


Seeking Medical Guidance for Short Stature and Rare Disorders

Adults with a stature resembling that of children should consult an endocrinologist? I am currently 44 years old and 131 cm tall. I would like to apply for a disability certificate. When I visited the endocrinology department at Taoyuan Hospital, I encountered Dr. Dong, who quest...


Dr. Jian Yingxiu Reply:
Hello: For height-related issues, please consult the "Pediatric Endocrinology Department" at major medical centers to investigate the underlying causes. Regarding the disability handbook, under the new regulations, in addition to the diagnosis made by a specialist, the ...

[Read More] Seeking Medical Guidance for Short Stature and Rare Disorders


Understanding Chronic Granulomatous Disease: Treatment, Diet, and Resources

Chronic granulomatous disease 1. For patients with chronic granulomatous disease, is the requirement for injections three times a week only temporary or is it lifelong? 2. Is bone marrow transplantation or umbilical cord blood the only way to achieve a cure? Are there any succe...


Dr. Jian Yingxiu Reply:
Hello: For patients with chronic granulomatous disease, it is currently recommended to continue interferon therapy unless the cellular issues are corrected through stem cell transplantation, at which point it may be possible to discontinue treatment. In Taiwan, there are very few...

[Read More] Understanding Chronic Granulomatous Disease: Treatment, Diet, and Resources


Understanding Calf Muscle Weakness: Insights on Rare Conditions

Weakness in the calf muscles? Hello Dr. Chen, I apologize for the interruption. I would like to ask for your advice. I have been experiencing gradual weakness in my calf muscles (especially the posterior side) for over two years now. Climbing stairs has become increasingly diffi...


Dr. Chen Shunsheng Reply:
It is possible that there is lumbar nerve root pathology, peripheral nerve issues, or myopathy. Please consult a neurologist.

[Read More] Understanding Calf Muscle Weakness: Insights on Rare Conditions


Understanding Short Anagen Syndrome: A Mother's Quest for Answers

My daughter? Hello Doctor: I don't understand, so I would like to ask you. My daughter has been diagnosed with Short Anagen Syndrome after some examinations due to her hair appearance. Previously, there were six other cases with the same symptoms, but they were all Western i...


Dr. Jian Yingxiu Reply:
Hello: 1. This diagnosis currently relies on clinical assessment; a physician will attribute the condition to this disease only if they believe there are no other explanations for the phenomenon. Conversely, this disease typically only affects hair growth and can cause psychologi...

[Read More] Understanding Short Anagen Syndrome: A Mother's Quest for Answers


Can Genetic Testing Confirm Citrullinemia Type 1 in My Child?

Can the mutation point for argininemia be identified? Can I confirm if my child has a chromosomal abnormality through genetic testing after being diagnosed with Citrullinemia Type I, or are there other methods for diagnosis? Thank you!


Dr. Jian Yingxiu Reply:
Diagnosis of Citrullinemia Type I can be confirmed through genetic testing or enzyme analysis. These tests are not covered by health insurance. Please consult your physician for further testing options.

[Read More] Can Genetic Testing Confirm Citrullinemia Type 1 in My Child?


Understanding Mad Cow Disease: Risks and Safety Concerns in Taiwan

Could you please provide more details or specify your question regarding mad cow disease? Hello, Director Chen: In the past year, I have heard about the issue of mad cow disease, so I have stopped eating beef. However, my family still consumes it. One time during a meal, there wa...


Dr. Chen Shunsheng Reply:
Hello, Basically, the risk of contracting variant Creutzfeldt-Jakob disease (vCJD) decreases if one does not consume beef. However, if beef is to be consumed, it is advisable to avoid beef products imported from countries with a high risk of vCJD, such as the United Kingdom and...

[Read More] Understanding Mad Cow Disease: Risks and Safety Concerns in Taiwan


Understanding Little Fat Power Syndrome: Managing Excessive Appetite in Children

Little Fatty Syndrome Hello, doctor. My child is 1 year and 2 months old and is a twin. Currently, he is 72 cm tall and weighs 8 kg. It seems that he cannot control his appetite, as he has a very large food intake. For example, at 9 AM for breakfast, he can eat a piece of radish ...


Dr. Lin Xuanpei Reply:
If there is a suspicion of Prader-Willi Syndrome (PWS), it is essential to take the child to a pediatric genetic specialist for a detailed evaluation and specialized genetic testing to confirm the diagnosis. After the diagnosis is confirmed, the specialist will explain the result...

[Read More] Understanding Little Fat Power Syndrome: Managing Excessive Appetite in Children


Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns

Neurology Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 until now, I have had si...


Dr. Chen Shunsheng Reply:
The condition is relatively complex with numerous questions. It is recommended to seek consultation at a medical center in your area, particularly for discussions with specialists in neurosurgery, neurology, and interventional radiology. If necessary, genetic testing may also be ...

[Read More] Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns


Understanding Infantile Spasms: Treatment Options and Success Stories

Infantile spasms Hello Doctor: The child experienced infantile spasms at 3 months old. An MRI showed no abnormalities, ruling out tuberous sclerosis. Blood and urine tests were normal. The child is currently receiving vitamin B supplementation, oral vigabatrin, steroid injections...


Dr. Chen Shunsheng Reply:
Infantile spasms can be diagnosed and treated by pediatric neurologists. Other issues require a personal examination before providing answers, so it is recommended to consult the child's pediatric neurologist directly.

[Read More] Understanding Infantile Spasms: Treatment Options and Success Stories


Exploring New Insights on 11q23 Chromosome Deletion Cases

Are there any cases available for inquiry regarding the deletion of the 11q23 chromosome region? Zhen was born 7 years ago and was diagnosed with a partial deletion of chromosome 11q23 at National Taiwan University Hospital. At that time, there was insufficient literature or symp...


Dr. Jian Yingxiu Reply:
Hello, Ms. Zhen: Based on the literature you have searched, the clinical manifestations associated with the deletion of chromosome 11q23 (also known as Jacobsen syndrome) may include the following for your reference. It is recommended to regularly monitor platelet counts through...

[Read More] Exploring New Insights on 11q23 Chromosome Deletion Cases


Understanding Growth Delays in Children: When to Seek Medical Advice

excuse me? Hello Dr. Hsu, I have a 5-year-and-1-month-old boy who is 102 cm tall and weighs 14 kg. Is there a concern regarding developmental delay? He has two older brothers, and his energy and learning abilities are normal. However, there is a significant difference in his gr...


Dr. Xu Shanjing Reply:
The child's mother is doing well! Each person's growth is different; children may take after their father or mother, and growth can occur early or late. If they are healthy and show no gastrointestinal symptoms, there is no need to worry! I recommend reading the informa...

[Read More] Understanding Growth Delays in Children: When to Seek Medical Advice


Exploring the Link Between Motor Neuron Degeneration and Post-Polio Syndrome

The relationship between motor neuron degeneration and post-polio syndrome? Dear Dr. Jian, I have the following questions and would appreciate your guidance: At the age of three, I experienced atrophy and weakness in my left lower limb due to poliomyelitis and have never recei...


Dr. Jian Yingxiu Reply:
MND or ALS should be discussed with a neurologist. Currently, certain diseases can be diagnosed through genetic testing, so you may want to consult your neurologist about this. However, your previous cervical spine issues may also contribute to these symptoms, so it is essential ...

[Read More] Exploring the Link Between Motor Neuron Degeneration and Post-Polio Syndrome


Sacroiliac Joint Dysfunction or Piriformis Syndrome: What's Your Diagnosis?

Sacroiliitis or Piriformis Syndrome? Hello Doctor: I have a painful spot in my left lower back (it feels like there is a "knot" when I touch it), and the discomfort extends from my buttock down to my left toes (the little toe and the ring finger), which often feel sore ...


Dr. Chen Shunsheng Reply:
The condition is likely Piriformis Syndrome. What is Piriformis Syndrome? The piriformis muscle is a muscle that passes through the posterior hip joint. It is smaller than other surrounding muscles in the buttocks and thighs and helps with the external rotation of the hip joint. ...

[Read More] Sacroiliac Joint Dysfunction or Piriformis Syndrome: What's Your Diagnosis?


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