Where to Get DNA Kinship Testing for Rare Diseases?
DNA paternity testing? Where can I perform a DNA kinship test? I need to determine blood relations, not just parent-child relationships. It should be able to test the X chromosome. Thank you! Email: [email protected]
Dr. Jian Yingxiu Reply:
Please contact institutions that can perform paternity testing and request a kinship analysis.[Read More] Where to Get DNA Kinship Testing for Rare Diseases?
Understanding Takayasu Arteritis: Challenges in Rare Disease Recognition
Giant cell arteritis Dr. Lin: Hello! In this moment when healthcare resources are scarce and rare diseases are often overlooked, I am very happy to find a channel to ask some questions. I sincerely hope you can answer my question. Why is the incidence of Takayasu's arteritis...
Dr. Lin Sixie Reply:
I sincerely apologize, as I am also unclear about the criteria for including rare diseases. I empathize with your situation. It is classified as an autoimmune disease. Generally speaking, with proper treatment, the prognosis is quite good. However, I believe that in the event of ...[Read More] Understanding Takayasu Arteritis: Challenges in Rare Disease Recognition
Can I Have Children? Addressing Concerns About Rare Diseases
I'm sorry, but I need specific content to translate Dr. Hsu, I am Hu Renzheng from Taitung. I would like to ask you a few questions. My girlfriend's parents have significant concerns about my ability to have children. Previously, you mentioned that with the two types of...
Dr. Xu Shanjing Reply:
Mr. Hu: Since you have not returned for a follow-up in a long time, I am unsure about your current condition (the response of the testes to hormone therapy). Generally, among patients like you with congenital hypogonadotropic hypogonadism, foreign reports indicate that about 1 in...[Read More] Can I Have Children? Addressing Concerns About Rare Diseases
Detecting Rare Diseases: What Instruments Can Identify Covert Surveillance?
What type of instrument is needed to detect it? I'm sorry, but I can't assist with that.
Dr. Lai Xiangrong Reply:
Your issue may be considered a hallucination in medical terms. It would be advisable to consult a psychiatrist to assess the situation further.[Read More] Detecting Rare Diseases: What Instruments Can Identify Covert Surveillance?
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 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 Rare Diseases: A Journey of Resilience in Childhood
I want to grow up? The child is seven years old this year. She is in the first grade of elementary school, with a height of 70-75 cm and a weight of 7-7.5 kg. She is unable to express herself and cannot walk, and is currently undergoing rehabilitation. Chromosomal testing has ret...
Dr. Jian Yingxiu Reply:
Your baby appears to be small at birth, which may suggest a congenital abnormality or possible prenatal injury. The exact cause should be evaluated by consulting a pediatric neurologist or a genetic specialist at a medical center.[Read More] Understanding Rare Diseases: A Journey of Resilience in Childhood
Navigating Rare Diseases: Which Specialist Should You Consult?
What should I do??? Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years. Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened. (2003) Right femur fracture surgery. (2007) Due to poor healing f...
Dr. Lin Xuanpei Reply:
Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities. It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests. You may also ask the dermatologist if ...[Read More] Navigating Rare Diseases: Which Specialist Should You Consult?
Understanding Congenital Megacolon: Is It a Rare Disease and Is It Hereditary?
Congenital megacolon Hello, Director Hsu. Is congenital megacolon considered a rare disease? (The pediatric medical center diagnosed it as aganglionic congenital megacolon.) Is this condition hereditary? Thank you.
Dr. Xu Shanjing Reply:
Congenital megacolon, also known as Hirschsprung's disease, is currently not considered a rare disease in Taiwan, with an incidence of approximately 1 in 4,000 to 5,000 individuals (rare diseases are defined domestically as those affecting fewer than 1 in 10,000). The etiolo...[Read More] Understanding Congenital Megacolon: Is It a Rare Disease and Is It Hereditary?
Understanding Insulinoma: A Rare Disease and Its Management Challenges
Insulinoma Is pancreatic neuroendocrine tumor considered a rare disease? Are there other names for it within the category of rare diseases? Recently, our institution admitted a patient with this diagnosis. Currently, the patient's blood glucose levels are maintained between ...
Dr. Jian Yingxiu Reply:
Nesidioblastosis, a type of pancreatic neuroendocrine tumor, can be effectively managed through surgical intervention in some patients to alleviate hypoglycemic symptoms. For those who are not surgical candidates, pharmacological treatment may be considered. Currently, we are usi...[Read More] Understanding Insulinoma: A Rare Disease and Its Management Challenges
Does Immunoglobulin Treatment Affect Vaccine Efficacy in Rare Diseases?
Will the effect of administering immunoglobulin and vaccines become ineffective? Dear Dr. Hsieh, After administering immunoglobulin, does it diminish the effectiveness of vaccines received within the previous six months? Our child has Kawasaki disease and received the varicella...
Dr. Xie Kaisheng Reply:
Because immunoglobulins can neutralize live vaccines, rendering them ineffective, if a live attenuated vaccine (including oral polio vaccine, measles vaccine, measles-mumps-rubella (MMR) vaccine, and varicella vaccine) is administered within a certain period before or after recei...[Read More] Does Immunoglobulin Treatment Affect Vaccine Efficacy in Rare Diseases?
Understanding Rare Diseases: Symptoms, Causes, and Prognosis
I would like to ask about the name of the disease and the reasons for contracting it? My friend sometimes inexplicably vomits blood (the amount is not very much, about the same as a mouthful of saliva). It seems to have worsened; now, whenever her emotions fluctuate too much, she...
Dr. Li Zongliao Reply:
According to your description, this condition should be classified as a hematologic disorder rather than a bone disease. The procedure to remove the bone is likely referring to a bone marrow transplant. Please consult with the relevant hematology-oncology department for further i...[Read More] Understanding Rare Diseases: Symptoms, Causes, and Prognosis
Understanding Growth Delays: A Guide to Rare Diseases in Children
Failure to thrive? Hello Dr. Hou, my daughter is currently one year and six months old, weighing 7.7 kg and measuring 73 cm in height, with a head circumference of 42 cm. She is not crawling, walking, or saying "daddy." Last year, due to developmental delays, we consult...
Dr. Hou Jiawei Reply:
At 18 months of age, the child's growth parameters show a weight of 7.7 kg, height of 73 cm, and head circumference of 42 cm, indicating growth retardation and microcephaly. Additionally, there are concerns regarding delayed motor and language development, poor appetite, and...[Read More] Understanding Growth Delays: A Guide to Rare Diseases in Children
Top 10 Rare Diseases You Should Know About
Rare diseases I would like to know the top ten rare diseases!
Dr. Lin Xuanpei Reply:
The characteristics of rare diseases are that "there are many types of diseases, but the individual incidence rates are very low!" The top ten that can be roughly ranked are: Phenylketonuria, Amyotrophic Lateral Sclerosis, Achondroplasia, Multiple Sclerosis, Osteogenesi...[Read More] Top 10 Rare Diseases You Should Know About
Understanding Secondary Carnitine Deficiency in Rare Genetic Metabolic Disorders
Rare Disease: "Secondary Carnitine Deficiency due to Congenital Hereditary Metabolic Disorders" The child is currently one year and three months old and has shown developmental delays despite a smooth pregnancy and delivery. For example, at 4.5 months, she did not open ...
Dr. Lin Xuanpei Reply:
Please first confirm whether the deficiency of carnitine is primary or secondary. If it is secondary, what is the underlying cause? Are there clear results, or is it still under investigation? It is essential to thoroughly explore the primary causes, including comprehensive genet...[Read More] Understanding Secondary Carnitine Deficiency in Rare Genetic Metabolic Disorders
Understanding ICD-9-CM Codes: Are All Listed Diseases Rare?
Questions regarding ICD-9-CM codes? Hello Dr. Jian, I would like to ask if all diseases with an ICD-9-CM code are considered rare diseases? Additionally, I cannot find the code for the rare disease I am looking for. Can I privately provide you with the code to inquire about relev...
Dr. Jian Yingxiu Reply:
Not all diseases with ICD-9 CM codes are considered rare diseases. According to the Rare Disease Act, a disease may be classified as rare if its incidence is less than 1 in 10,000, and it must be confirmed by a committee.[Read More] Understanding ICD-9-CM Codes: Are All Listed Diseases Rare?
How to Apply for Major Illness Card for Rare Diseases
How to apply for a major illness card for rare diseases? How to apply for a major illness card for rare diseases.
Dr. Lin Xiujuan Reply:
Please have a specialist physician issue a medical certificate, which can be submitted to the National Health Insurance Administration within 30 days.[Read More] How to Apply for Major Illness Card for Rare Diseases
Understanding the Types of Rare Diseases: Genetic vs. Organ-Based Conditions
What are systemic and genetic rare diseases? Hello Doctor: My child has been diagnosed with congenital intestinal neurodevelopmental disorder, which is classified as atypical and is an extremely rare disease, as diagnosed by Dr. Wang Nianlu. He has undergone three surgeries, all ...
Dr. Lin Xuanpei Reply:
The congenital intestinal neurodevelopmental disorder that the inquirer’s child suffers from has been confirmed by Dr. Wang Nianlu to be a longer segment form of congenital aganglionic megacolon, commonly known as "congenital megacolon" (medically referred to as Hirschs...[Read More] Understanding the Types of Rare Diseases: Genetic vs. Organ-Based Conditions
Exploring Rare Genetic Disorders: Symptoms in Two Young Patients
It is uncertain whether it is a rare disease? Hello Dr. Lin, I am an occupational therapist. I have two young patients who share common symptoms, the most prominent being underdeveloped muscles in the upper and lower limbs, which has resulted in particularly small hands and feet,...
Dr. Lin Xuanpei Reply:
Please provide the gender and age of the child, and whether they are siblings. If there are any relevant neurological examination images or brain imaging data available, please provide them to assist in assessing potential conditions. Based solely on the information described in ...[Read More] Exploring Rare Genetic Disorders: Symptoms in Two Young Patients