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
Concerns About Short Stature: Understanding Growth and Development in Adolescents
Short stature? Hello, doctor. My son is going to start junior high school this year and he is a boy currently measuring 158 cm in height. I have been worried about whether he will grow taller because his Adam's apple is already quite prominent, and he has a lot of pubic hair...
Dr. Lin Xiujuan Reply:
To schedule an appointment for the Pediatric Endocrinology Special Clinic at our hospital, please visit the Pediatric Genetics and Endocrinology Department during the consultation hours and obtain the physician's consent for an additional appointment.[Read More] Concerns About Short Stature: Understanding Growth and Development in Adolescents
Understanding Argininemia Type 1: Symptoms, Signs, and Treatment Options
Citrullinemia Type I The fundamental treatment method for Citrullinemia Type I is dietary management, specifically a low-protein diet combined with the use of ammonia scavengers such as sodium phenylbutyrate or L-arginine. Regarding the pre-symptomatic signs, it is known that c...
Dr. Jian Yingxiu Reply:
If a newborn exhibits rapid breathing during feeding but does not show these symptoms while sleeping, laryngomalacia should be considered, as it may not be indicative of a metabolic disorder. If you are concerned, please take the child to a pediatrician for evaluation. Thank you.[Read More] Understanding Argininemia Type 1: Symptoms, Signs, and Treatment Options
Understanding Pediatric Hypothyroidism: When to Schedule Follow-Up Visits
Pediatric hypothyroidism Dear Dr. Hsu, My daughter has hypothyroidism. Should we wait until she turns three to return for a follow-up appointment, or can we come back a month early? She will be three in just over a month, and we would like to see if she can discontinue her medic...
Dr. Xu Shanjing Reply:
On the day of the 3rd birthday, the medication was stopped. A follow-up appointment is scheduled for one month later, on Tuesday, with code 61. The patient should arrive at 9 AM for the follow-up and inform the doctor about stopping the medication for one month. Dr. Hsu will issu...[Read More] Understanding Pediatric Hypothyroidism: When to Schedule Follow-Up Visits
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
Concerns About Mad Cow Disease: Symptoms, Tests, and Specialist Recommendations
I suspect that I have mad cow disease (Creutzfeldt-Jakob disease)? Two weeks ago, after having Japanese barbecue with my girlfriend, I have experienced headaches for a whole week, along with temporary memory loss, where I forget what I did earlier in the day without any recollect...
Dr. Chen Shunsheng Reply:
The new variant of Creutzfeldt-Jakob disease associated with mad cow disease has an incubation period of three to seven years. Symptoms occurring for a week after consuming barbecued food are unrelated to the new variant of Creutzfeldt-Jakob disease and do not resemble it. Sympto...[Read More] Concerns About Mad Cow Disease: Symptoms, Tests, and Specialist Recommendations
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
Top 10 Rare Diseases in Taiwan: Do They Include Autoimmune Disorders?
Top Ten Rare Diseases I would like to know if the top ten rare diseases in Taiwan include autoimmune diseases. This is very important, please answer me, thank you.
Dr. Lin Ruli Reply:
I'm sorry, I don't know. Could you please ask the Rare Disease Foundation? They might have the information.[Read More] Top 10 Rare Diseases in Taiwan: Do They Include Autoimmune 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 Sudden Lower Back Stiffness in Children: Causes and Concerns
What could be the issue if a child experiences sudden muscle cramps in the lower back that prevent movement? My child experienced stiffness in the lower back on both sides around the third and fourth day of the Lunar New Year, which has recurred intermittently. We took him to the...
Dr. Lin Guanglin Reply:
More clinical information is needed for a more detailed discussion at the outpatient clinic.[Read More] Understanding Sudden Lower Back Stiffness in Children: Causes and Concerns
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
Managing Disc Herniation in MS Patients: Expert Advice Needed
MS spinal disc herniation Hello Dr. Chen, I am a patient with multiple sclerosis and I have a herniated disc issue. Should I address this problem? However, every time I visit an orthopedic surgeon, they refer me to a neurologist, and I'm unsure what to do. Could you please g...
Dr. Chen Shunsheng Reply:
Patients with multiple sclerosis (MS) who have issues with intervertebral disc herniation should indeed consult a neurologist for differential diagnosis or to confirm the diagnosis.[Read More] Managing Disc Herniation in MS Patients: Expert Advice Needed
Understanding Genetic Counseling and Testing for Rare Diseases
Genetic counseling and treatment? Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) concerning Wei-Lun. In your explanation, you mentioned special biochemical tests, genetic analysis, and bone age assessment. Could you please clarif...
Dr. Lin Xuanpei Reply:
1. Special biochemical tests include examinations related to skeletal development: alkaline phosphatase (Alk.-P), calcium, phosphorus, urinary calcium, and calcium/creatinine ratio. Sometimes, calcitonin, osteocalcin, and other research-related bone metabolism products may also b...[Read More] Understanding Genetic Counseling and Testing for Rare Diseases
Understanding Type I Collagen Metabolism and Genetic Testing for Rare Diseases
Medical Genetics Endocrinology and Metabolism Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) related to Xiao Jing. You mentioned the quantification of type I collagen metabolites and blood tests, as well as COL1A1 and COL1A2 gene...
Dr. Hou Jiawei Reply:
1. Quantification of type I collagen metabolites: For example, pyridinoline cross-linked telopeptide of collagen type I and carboxy-terminal propeptide of procollagen type I are elevated in patients with osteogenesis imperfecta (OI). 2. Quantifying type I collagen metabolites can...[Read More] Understanding Type I Collagen Metabolism and Genetic Testing for Rare Diseases
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Genetic counseling and treatment? Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium supplements and bisp...
Dr. Lin Xuanpei Reply:
The examination items for the initial visit for Osteogenesis Imperfecta (OI) may vary slightly depending on the recommendations of the specialist physicians at different hospitals. Generally, it will include at least skeletal X-rays, bone mineral density tests, and specific bioch...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options