Diagnosing Congenital Bile Acid Synthesis Disorders and PFIC in Infants
Congenital bile acid synthesis disorders and PFIC (Progressive Familial Intrahepatic Cholestasis) How should congenital bile acid synthesis disorders and PFIC be diagnosed? Because the baby is currently 4 months old and is suspected to have PFIC.
Dr. Zhu Shaoying Reply:
Hello: PFIC is an autosomal recessive genetic disorder, classified into two types, PFIC1 and PFIC2, based on different genetic mutations. It is a progressive cholestatic liver disease, and a definitive diagnosis requires liver biopsy and genetic testing (genetic testing is curren...[Read More] Diagnosing Congenital Bile Acid Synthesis Disorders and PFIC in Infants
Understanding Ear Fistulas: Causes, Symptoms, and Treatment Options
About the ear? Hello, I would like to inquire about an issue with an ear fistula. There is a hole above my ear that is discharging fluid and has an unpleasant odor. I would like to know what options are available to address my concerns. Thank you.
Dr. Jian Yingxiu Reply:
Please consult an otolaryngologist or a surgeon.[Read More] Understanding Ear Fistulas: Causes, Symptoms, and Treatment Options
Constant Yawning: Understanding a Rare Condition and Its Causes
Yawning all day long? I have a friend who yawns all the time, even after getting plenty of sleep. I'm not sure what's going on. What should I do about it?
Dr. Lin Qingyuan Reply:
Hello: I apologize! Based on your description, I cannot provide a definitive answer on how to improve your friend's symptoms. It may be necessary to see the individual in order to make a diagnosis.[Read More] Constant Yawning: Understanding a Rare Condition and Its Causes
Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Regarding Citrullinemia Hello Doctor: Our baby tested positive in the newborn screening. The retest also came back positive. I would like to understand if this confirms that my child has this condition. Additionally, what symptoms are associated with this condition? Will it have ...
Dr. Lin Xuanpei Reply:
Which item in the newborn screening are you referring to? Is the physician responsible for explaining the results a specialist in Pediatric Genetics and Metabolism or Pediatric Endocrinology? If so, the parent should not be so confused. A positive result in newborn screening typi...[Read More] Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Unraveling Rare Illness: Seeking Answers for Mysterious Symptoms
Strange illness, please help me, doctor! Dear Doctor, My sister is 39 years old, 163 cm tall, and weighs 73 kg. Over the past decade, she has experienced approximately ten episodes of sudden onset symptoms without any prior warning. During these episodes, she feels as though he...
Dr. Chen Shunsheng Reply:
Aunt Ah Shui: I will first analyze the symptoms: Sudden onset - The episode began suddenly without any warning signs. Initial and seizure symptoms - 1. Absence seizures - There may be a vacant stare, one eye may roll back while the other appears normal, sometimes the eyes ma...[Read More] Unraveling Rare Illness: Seeking Answers for Mysterious Symptoms
Understanding Rare Brain Disorders in Infants: A Mother's Concern
Worried Mother Hello Dr. Lin: My child had a larger head size at birth, and to be cautious, some pediatricians advised us to take him to Chang Gung Memorial Hospital for evaluation. The doctor arranged for an MRI, which revealed that the corpus callosum connecting the left and ri...
Dr. Lin Guanglin Reply:
The corpus callosum is an important pathway connecting the left and right hemispheres of the brain. Congenital brain abnormalities related to intelligence and developmental coordination are associated with the integrity of other structures. Rehabilitation therapy is considered th...[Read More] Understanding Rare Brain Disorders in Infants: A Mother's Concern
Understanding Alpers Syndrome: Symptoms, Causes, and Resources
What is "Alpers' syndrome"? Hello, doctor: What is "Alpers syndrome"? My friend's symptoms include waking up in the middle of the night accompanied by shortness of breath. His doctor mentioned that this disease can be caused by a viral infection, ult...
Dr. Jian Yingxiu Reply:
Please provide a detailed description or consult the original diagnosing physician. Thank you.[Read More] Understanding Alpers Syndrome: Symptoms, Causes, and Resources
Understanding Fabry's Disease: Symptoms, Diagnosis, and Treatment Options
Suspected Fabry disease? I experience intermittent electric shock-like tingling sensations throughout my body (in my back and limbs, including my ankles). I have noticed that these sensations occur when I feel like I need to sweat, when I am anxious, or when I need to have a bowe...
Dr. Jian Yingxiu Reply:
You may consider consulting the Neurology Department at National Taiwan University or Chang Gung Memorial Hospital. Thank you.[Read More] Understanding Fabry's Disease: Symptoms, Diagnosis, and Treatment Options
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
Contacting Doctors for Growth Hormone Treatment: Your Guide
Height growth issues! Administering growth hormone! Please respond? Is there a way to get in touch with the doctor? Could you please leave your contact information? I would like to ask my parents to visit the hospital to understand more, or can we come directly to your hospital t...
Dr. Hou Jiawei Reply:
You can directly schedule an outpatient evaluation, thank you![Read More] Contacting Doctors for Growth Hormone Treatment: Your Guide
Understanding Ichthyosis: Myths, Treatments, and Personal Experiences
Ichthyosis I am a patient with hereditary ichthyosis. I found this statement on Yahoo Knowledge (You can also try an old method: first, poke the ichthyosis until it bleeds, then mix lime and borax with water, apply it, wait for ten minutes, and then scrape it off. Although it is ...
Dr. Hou Jiawei Reply:
The symptoms of ichthyosis can range from dry itching to ichthyosis-like erythroderma. The aforementioned methods are home remedies that only provide temporary desquamation effects and are prone to infection, and are not recommended for use. Currently, the treatment goal for icht...[Read More] Understanding Ichthyosis: Myths, Treatments, and Personal Experiences
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
Height Concerns: Is Growth Hormone Therapy Right for You?
Height growth issues! Administering growth hormone! Please respond? Hello, doctor! I would like to ask you something. I am currently looking to increase my height. Although I am not very short, I am only 166 cm tall. As I am an athlete, height is quite important to me. I would li...
Dr. Hou Jiawei Reply:
Height is influenced by parental height as well as environmental factors and diet. To determine if there is still room for growth during adolescence, it is necessary to assess the growth plates of the bones before deciding on a treatment approach. Our hospital offers private grow...[Read More] Height Concerns: Is Growth Hormone Therapy Right for You?
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 Ultrasound Findings in Rare Kidney Diseases: A Guide
I would like to understand the content related to ultrasound? Hello Professor Lin, First of all, thank you for your response. I would like to understand the ultrasound findings better. Here are the ultrasound details: 1. Increased cortical echogenicity and swelling of the rena...
Dr. Lin Qingyuan Reply:
The first point may be acute rejection. The second point is merely to inform about the size of the kidneys. The third point is rather unusual; regarding the presence of ascites, I would personally rule out activation of cytomegalovirus (CMV) before confirming whether it is acute ...[Read More] Understanding Ultrasound Findings in Rare Kidney Diseases: A Guide
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
Understanding Sepsis: Causes, Recovery Chances, and Prevention Tips
Sepsis Hello Professor Lin, I would like to ask you what causes sepsis. If a doctor tells the family that the patient has developed sepsis, is there still hope for recovery? How can a kidney transplant recipient prevent sepsis? If the patient has not urinated for a while after th...
Dr. Lin Qingyuan Reply:
Sepsis is a condition where bacteria enter the bloodstream and spread throughout the body. It can be treated effectively with the appropriate antibiotics. Prevention primarily focuses on hygiene and environmental factors, followed by the management of the dosage of immunosuppress...[Read More] Understanding Sepsis: Causes, Recovery Chances, and Prevention Tips
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