Effective Treatment Options for Tourette Syndrome: A Comprehensive Guide
Treatment methods for Tourette syndrome? Treatment methods for Tourette syndrome.
Dr. Zhu Shaoying Reply:
Hello: First, family members, friends, teachers, and colleagues of patients with Tourette syndrome must have a correct understanding of the condition, as the symptoms of Tourette syndrome are involuntary and cannot be controlled. When it comes to pharmacological treatment for Tou...[Read More] Effective Treatment Options for Tourette Syndrome: A Comprehensive Guide
Navigating Treatment Decisions for Rare Pediatric Tumors: A Parent's Dilemma
Regarding pediatric tumors: A father who should not make decisions? Dear Director Qian, I have previously sent the same inquiry but have not yet received a response, so I am reaching out again. I apologize for the inconvenience! Our main concern is whether, after three years of ...
Dr. Qian Xinnan Reply:
After three years of regular follow-up with no abnormalities, it is appropriate to continue rigorous monitoring as described. At that time, the clinical group was classified as Group I/FH. According to current pediatric cancer treatment guidelines, the chemotherapy agents used in...[Read More] Navigating Treatment Decisions for Rare Pediatric Tumors: A Parent's Dilemma
Understanding the Differences Between Three Rare Metabolic Disorders
What are the differences among the three rare diseases mentioned above? 1. Methylmalonic acidemia 2. Isovalerylic acidemia 3. Glutaric acidemia
Dr. Xu Jiaqi Reply:
1. Methylmalonic Acidemia (MMA): Under normal circumstances, propionic acid is rapidly metabolized into methylmalonic acid, which is then converted into succinic acid by the enzyme methylmalonyl CoA mutase (MMM). Succinic acid is further metabolized by other enzymes into carbon d...[Read More] Understanding the Differences Between Three Rare Metabolic Disorders
Understanding Acute Rejection: Risks, Kidney Size, and Ascites Explained
Acute rejection Hello Professor Lin, thank you for your response. After medical consultation, I was informed that if acute rejection occurs, it must be controlled; otherwise, the new kidney must be removed immediately to prevent harm to the patient, such as damage to the heart, l...
Dr. Lin Qingyuan Reply:
(1) If acute rejection occurs, it can theoretically be managed, but a biopsy is necessary to determine the type and severity of the rejection. (2) Since the implanted kidney will not grow larger, the only way to assess for atrophy is to compare it to its own previous size. (3) It...[Read More] Understanding Acute Rejection: Risks, Kidney Size, and Ascites Explained
Understanding Clavicular and Cranial Developmental Disorders in Children
Clavicular cranial dysplasia Dear Dr. Jian, My daughter has bilateral parietal bone hypoplasia, which feels soft to the touch and covers a large area. She is currently 1 year and 4 months old, and her head circumference, height, and weight are all normal. Dr. Ma Junyi at Asia Un...
Dr. Jian Yingxiu Reply:
The softening of the parietal bone is quite common in newborns and generally does not require concern. However, it is important to monitor for any associated issues such as electrolyte metabolism disorders or congenital osteogenesis imperfecta. If there is also evidence of underd...[Read More] Understanding Clavicular and Cranial Developmental Disorders in Children
Kidney Transplant Concerns for Hepatitis B Patients: What You Need to Know
Kidney transplantation Hello Professor Lin, I would like to ask you a question. Recently, I read online that individuals with hepatitis B should avoid kidney transplantation. Is this true? Why is it not advisable? What side effects could occur if they undergo the procedure? Would...
Dr. Lin Qingyuan Reply:
In patients with abnormal liver function, the use of immunosuppressive drugs after liver transplantation may activate the hepatitis B virus, potentially leading to active hepatitis. More concerning is the risk of fulminant hepatitis, which can be fatal. Therefore, while the surge...[Read More] Kidney Transplant Concerns for Hepatitis B Patients: What You Need to Know
Understanding Clavicular and Cranial Hypoplasia: A Guide for Parents
Clavicular cranial dysplasia Dear Dr. Jian, I emailed you last week but I haven't received a response, and I'm not sure why. My daughter is currently one year and four months old, and the fontanelle on her head still feels soft to the touch, almost as if there is nothi...
Dr. Jian Yingxiu Reply:
The softening of the skull is quite common in newborns and generally does not require concern. However, it is important to monitor for any associated issues such as electrolyte imbalances or congenital osteogenesis imperfecta. If there is also evidence of underdevelopment in the ...[Read More] Understanding Clavicular and Cranial Hypoplasia: A Guide for Parents
Understanding Behçet's Syndrome: Symptoms, Prevention, and Genetic Risks
What is Bessy Syndrome? Dear Professor Lin, My younger brother is 30 years old and has recently been diagnosed with Behçet's Syndrome by a physician. The doctor informed us that it is an autoimmune disease. Two years ago, he experienced iritis, and recently he has had sever...
Dr. Lin Qingyuan Reply:
Hello: In response to your questions, here are my replies: (1) Please come for an outpatient visit to determine how many organs are affected and the disease activity. (2) The presence of blood in the semen can be treated. (3) It may be hereditary. I need to know your family histo...[Read More] Understanding Behçet's Syndrome: Symptoms, Prevention, and Genetic Risks
Understanding Raynaud's Phenomenon: Insights on Rare Disease Management
Raynaud's phenomenon Hello! My niece is an elementary school teacher. While teaching dance at school, she accidentally twisted her waist, and later the other side also got twisted, resulting in some paralysis. After receiving treatment from both Western and traditional Chine...
Dr. Jian Yingxiu Reply:
Raynaud's syndrome, also known as Raynaud's phenomenon, refers to a condition where certain parts of the body experience changes in skin color and discomfort such as pain and swelling due to inadequate blood flow. The most commonly affected areas are the fingers and toe...[Read More] Understanding Raynaud's Phenomenon: Insights on Rare Disease Management
Understanding Tuberous Sclerosis: Symptoms, Causes, and Treatment Options
Tuberous Sclerosis Complex A four-year-old has developed small freckle-like spots on the face, which have increased in number by the age of six. After visiting a dermatologist in Taoyuan, the physician suspected tuberous sclerosis complex (TSC) and recommended further examination...
Dr. Jian Yingxiu Reply:
Tuberous sclerosis is generally caused by genetic mutations and can be classified into Type 1 and Type 2. Since it is caused by genetic mutations, all cells in the body carry this mutated gene. The main symptoms include issues related to the skin, teeth, nails, heart, kidneys, an...[Read More] Understanding Tuberous Sclerosis: Symptoms, Causes, and Treatment Options
Understanding Dance Disorder: Rare Disease Insights and Support Options
Chorea My eldest son just turned twenty this year. When he was in the first year of junior high school, he frequently exhibited strange movements, with episodes of his limbs freezing and being unable to move suddenly. A neurologist diagnosed him with chorea, but the information I...
Dr. Chen Shunsheng Reply:
Possible diagnoses based on the symptoms described include: 1. Paroxysmal choreoathetosis - can be controlled with medication. 2. Tic disorder or Tourette syndrome - can be controlled with medication. 3. Sydenham's chorea - can be treated with medication. 4. Huntington'...[Read More] Understanding Dance Disorder: Rare Disease Insights and Support Options
Understanding Chest Pain While Breathing: A Rare Condition Explained
Sometimes, there is a sharp pain around the heart when breathing? I am currently in my second year of high school. Since I was in the third year of junior high, I have occasionally felt a sharp pain around my heart when I breathe. During these episodes, I tend to pat my chest, wh...
Dr. Xie Kaisheng Reply:
Anonymous High School Student: Hello, thank you for your email inquiry. Chest pain is a common condition in pediatric cardiology, and its possible causes include heart disease, costochondritis, gastrointestinal disorders, pleuritis, asthma, and thoracic diseases, among others. A ...[Read More] Understanding Chest Pain While Breathing: A Rare Condition Explained
Understanding OTC Deficiency: Causes of Seizures in Infants and When to Seek Help
OTC deficiency (Ornithine Transcar Hello Doctor, my young son is nearly five months old (born on November 4, 2004) and is a patient with OTC deficiency. He has experienced seizures both at birth and recently. I would like to ask whether these phenomena are caused by the following...
Dr. Jian Yingxiu Reply:
Patients with OTC deficiency are prone to elevated blood ammonia levels during colds or when receiving vaccinations, which can lead to symptoms such as increased crying, vomiting, and even lethargy. Your baby's condition may be related to the cold medication, but the possibi...[Read More] Understanding OTC Deficiency: Causes of Seizures in Infants and When to Seek Help
How to Schedule an Appointment for Rare Genetic Disorders?
How to make an appointment for a contracted outpatient service? Dear Dr. Lin, Hello. My daughter has been experiencing recurrent hair breakage. I previously consulted Dr. Jian (Jian Ying-Hsiu), who suggested that I take her to a pediatric genetics clinic. Since I live in Tainan ...
Dr. Lin Xiujuan Reply:
Due to issues related to hair, it is within the scope of dermatologists. The medical team at the Chang Gung Genetic Center recommends that you consult with Dr. Chao Hsiao-Chiu or Dr. Lee Yu-Yun in dermatology. If you wish to schedule a special appointment for genetic counseling a...[Read More] How to Schedule an Appointment for Rare Genetic Disorders?
Understanding Galactosemia: Genetic Causes and Parental Influence
Galactosemia Galactosemia is caused by genetic mutations. If a child's father has a history of drug use but has since quit, the likelihood of genetic issues leading to galactosemia would not be significantly higher in males compared to females. Galactosemia is an inherited m...
Dr. Lin Xiujuan Reply:
Galactosemia is an autosomal recessive disorder caused by both parents carrying one defective gene. With proper dietary management and regular follow-up appointments, patients typically have a good prognosis.[Read More] Understanding Galactosemia: Genetic Causes and Parental Influence
Prenatal Screening for Mucopolysaccharidosis: What You Need to Know
Mucopolysaccharidosis - Prenatal Diagnosis Hello Dr. Lin, My husband's elder brother's son has mucopolysaccharidosis and is currently about 7 years old, receiving regular treatment at Mackay Memorial Hospital. I am currently 11 weeks pregnant with my second child; my f...
Dr. Lin Xuanpei Reply:
It is essential to first determine which type of mucopolysaccharidosis (MPS) your husband's nephew has, as the inheritance patterns differ among the various types. However, based on your situation, it can be inferred that whether it is the X-linked recessive type (MPS II) or...[Read More] Prenatal Screening for Mucopolysaccharidosis: What You Need to Know
Understanding Color Blindness: Genetic Risks for Your Children
Color blindness issues Consultation content: Hello Dr. Chien, I would like to ask you... My grandmother has color blindness, and both of my uncles also have color blindness. My mother does not have color blindness (she is likely a carrier), and I do not have color blindness eithe...
Dr. Jian Yingxiu Reply:
In terms of X-linked inheritance patterns, your mother could be a carrier or she could be unaffected. If she is unaffected, the probability of your children having the same genetic disorder would be the same as that of the general population. If your mother is a carrier, you have...[Read More] Understanding Color Blindness: Genetic Risks for Your Children
Is This Rare Disease Bubble Boy Syndrome? Understanding Symptoms and Next Steps
Is this a rare disease called Bubble Boy Disease? Hello, I just gave birth to a baby girl. She has been developing blisters in areas prone to friction, such as her hands, feet, and armpits. She is currently under observation in the hospital. The doctor informed me that she may ha...
Dr. Jian Yingxiu Reply:
Performing anesthesia and a biopsy on a newborn girl who is just over ten days old is generally safe. Pediatricians at most medical centers have sufficient experience to carry out the procedure and are adequately equipped to manage any potential complications that may arise. As f...[Read More] Is This Rare Disease Bubble Boy Syndrome? Understanding Symptoms and Next Steps
Exploring Treatment Options for Adrenoleukodystrophy in Taiwan
Adrenal medullary sclerosis Doctor: I have significant questions regarding ALD... Are there any treatment options being explored for this condition in Taiwan? Although it is rare and has a prevalence of one in a hundred thousand... what if someone in Taiwan were to develop it? Is...
Dr. Jian Yingxiu Reply:
The current standard treatment is bone marrow transplantation, while other medications or gene therapies have not yet been proven effective or implemented.[Read More] Exploring Treatment Options for Adrenoleukodystrophy in Taiwan
Understanding Otosclerosis: Managing Tinnitus and Treatment Timing
Otosclerosis...tinnitus Dr. Hou: Hello! Thank you for taking the time to clarify my concerns amidst your busy schedule. Recently, I visited a doctor due to hearing issues in my left ear, and the diagnosis was otosclerosis. To be cautious, I sought a second opinion at another hosp...
Dr. Hou Jiawei Reply:
Otosclerosis is an autosomal dominant hereditary hearing disorder characterized by progressive hearing loss that typically begins in young adulthood, affecting both ears in most cases. Symptoms include: 1. Progressive hearing loss: Early hearing loss primarily occurs in the low f...[Read More] Understanding Otosclerosis: Managing Tinnitus and Treatment Timing