Other, Rare Disease FAQ - Page 6

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Understanding Scalp Pain: Causes and Concerns Beyond Injury

Scalp pain or scalp tenderness? Hello doctor, for the past two days, I've been experiencing unexplained sharp pain on the scalp at the top right side of my head. I haven't bumped my head or sustained any injuries. The pain started suddenly when I woke up in the morning,...


Dr. Chen Shunsheng Reply:
The scalp on the right side of the head is experiencing unexplained sharp pain, without any trauma or injury, and there is no redness or swelling. Even brushing the hair causes pain. Several important conditions to consider include: temporal arteritis, postherpetic neuralgia, mig...

[Read More] Understanding Scalp Pain: Causes and Concerns Beyond Injury


Understanding Rare Acidosis: What New Parents Need to Know

Rare acidosis Dear Dr. Lin, I am a new mother, and my baby was born on April 17 at the Hsin-Lou Hospital in Tainan. Our family is very anxious because the hospital has asked us to come back for a re-examination. Although we haven't gone for the re-examination yet, the hospi...


Dr. Lin Xiujuan Reply:
Hello: Due to the need to return to the original birth hospital for a re-examination of the blood sample, the value range is usually in the context of a false positive. The meaning of "false positive" in screening indicates that the concentration of certain metabolites ...

[Read More] Understanding Rare Acidosis: What New Parents Need to Know


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


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


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


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


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


Understanding Oligohydramnios: Risks, Treatments, and Decisions

I have been diagnosed with oligohydramnios? Last week during my routine prenatal check-up, the doctor informed me that I have low amniotic fluid and discussed its severity. I was referred to China Medical University Hospital for a high-level ultrasound examination. Yesterday, the...


Dr. Chen Ming Reply:
Hello, I apologize for not addressing your question earlier as I was out of the country for a conference. Regarding your situation, if there is no rupture of membranes and no infection, amniocentesis is usually the most advisable procedure. I have indeed performed many amniocente...

[Read More] Understanding Oligohydramnios: Risks, Treatments, and Decisions


Understanding Congenital Myopathy: A Mother's Guide to Managing Rare Muscle Disorders

Congenital myopathy Dear Dr. Lin, My son underwent a muscle biopsy in 2006, and the doctor informed us that his cells are relatively small and the dark areas are lighter. We were only advised against engaging in vigorous exercise. However, my son has been experiencing frequent f...


Dr. Lin Sixie Reply:
First, we need to confirm whether your child has a myopathy. From your email, I cannot fully understand your child's condition. Could you please provide more detailed information: 1. What was the age of onset, how old is your child now, and are the growth and developmental m...

[Read More] Understanding Congenital Myopathy: A Mother's Guide to Managing Rare Muscle Disorders


Understanding Rare Cancer: Mucosal Fibrous Sarcoma Treatment Insights

Cancer treatment Hello Dr. Yang: In June of this year, I was diagnosed with myxofibrosarcoma, and I underwent surgery in the same month. I am currently undergoing radiation therapy, which will last for six weeks. I would like to ask: 1. Is this type of cancer considered rare? I...


Dr. Yang Kunde Reply:
1. This condition is not very rare and has a low correlation with congenital immune deficiencies. 2. Generally speaking, this condition results from the interaction between genetics and the environment. 3. Treatment should be determined in consultation with your physician bas...

[Read More] Understanding Rare Cancer: Mucosal Fibrous Sarcoma Treatment Insights


Understanding Congenital Hyper IgE Syndrome: Key Differences and Insights

Is this Congenital Hyper IgE Syndrome? Hello! Since my first IgE test, my IgE levels have consistently remained above 10,000 for several years. Here are the results from various hospitals: - Linkou Chang Gung Memorial Hospital: 34,000 (initial IgE test, hospitalized for steroid...


Dr. Yang Kunde Reply:
Hyper-IgE syndrome does not have a difference in terms of congenital factors, but rather whether symptoms have been present since childhood. Generally speaking, conditions that are classified as syndromes can be challenging to differentiate and categorize. Many immune abnormaliti...

[Read More] Understanding Congenital Hyper IgE Syndrome: Key Differences and Insights


Can Delaying Development Help My Child Grow Taller?

Is it feasible to delay development in order to gain time for height increase? Dear Dr. Lin, My daughter seems to have inherited her short stature from her father's side, as her height has consistently been below the 5th percentile on growth charts since she was young. We c...


Dr. Lin Xiujuan Reply:
Due to the need to review past medical records, it is recommended to schedule an appointment with the Pediatric Genetics and Endocrinology Department.

[Read More] Can Delaying Development Help My Child Grow Taller?


Understanding Gender Dysphoria: A Journey Through Rare Disorders

Disorder of Secondary Sexual Characteristics? Hello Dr. Hou, I am a 40-year-old male, but life has played a trick on me, as my physique is almost feminine (a normal triangle shape rather than the male inverted triangle). This means I have some female characteristics; for instanc...


Dr. Hou Jiawei Reply:
Secondary sexual characteristics and body changes are initiated with sexual development; however, boys can also secrete small amounts of estrogen, and girls can secrete small amounts of androgens. As a result, some girls may experience denser body hair and fine, light-colored hai...

[Read More] Understanding Gender Dysphoria: A Journey Through Rare Disorders


Understanding Adrenal Crisis: Causes, Symptoms, Treatment, and Care

What is an adrenal crisis? What is an adrenal crisis? What are its causes? What are the clinical symptoms? What is the treatment? How should patients with this condition be cared for? Thank you!


Dr. Hou Jiawei Reply:
Adrenal crisis is caused by either congenital or acquired adrenal insufficiency, with symptoms ranging from mild to severe. Mild symptoms include weakness, fatigue, nausea, and vomiting, while severe cases may present with hypoglycemia, hypotension, or even shock. There are many ...

[Read More] Understanding Adrenal Crisis: Causes, Symptoms, Treatment, and Care


Understanding Female G6PD Deficiency: Insights and Concerns

~Follow-up questions regarding female individuals with Favism? I was really touched to receive the doctor's response. Our family does not have a history of favism on my father's side, but there are relatives on my mother's side who do. Now, our newborn daughter has...


Dr. Jian Yingxiu Reply:
No, females can also develop the condition. Please follow the subsequent diagnostic confirmation process, and avoid substances that may trigger the disease until a diagnosis is confirmed. Once the enzyme activity of the baby is determined, you can decide whether to continue avoid...

[Read More] Understanding Female G6PD Deficiency: Insights and Concerns


Understanding Favism: Do Both Parents Need to Be Carriers for Females?

Favism, also known as fava bean disease, is a genetic disorder characterized by a deficiency of the enzyme glucose-6-phosphate dehydrogen To develop favism, a female must inherit the gene from both parents, meaning both parents need to be carriers of the gene.


Dr. Jian Yingxiu Reply:
The gene for G6PD deficiency (Favism) is located on the X chromosome. Females inherit one X chromosome from each parent, and if either of these contains a pathogenic mutation, there is a chance of developing enzyme deficiency (Favism). However, because females have another normal...

[Read More] Understanding Favism: Do Both Parents Need to Be Carriers for Females?


Understanding Rare Genetic Disorders: Symptoms and Inheritance Concerns

I would like to understand what condition is associated with these symptoms? Hello, doctor. I would like to understand if this is a genetic disorder or a rare disease. My mother was born with differences compared to others. She has limited mobility in her limbs, runs slowly, and ...


Dr. Lin Xuanpei Reply:
Please have Miss Hsuan-Ni take her brother to a nearby medical center to see a neurologist for an evaluation. First, clarify his condition to determine whether it is truly inherited from their mother. Work to identify possible causes and confirm the diagnosis. Only after that can...

[Read More] Understanding Rare Genetic Disorders: Symptoms and Inheritance Concerns


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