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Yan Xin Liang
Pediatrics
About me
Graduated from Nanhua University, engaged in pediatric work for over 10 years, and have further studied at Hunan Children's Hospital, Xiangya Hospital, and Beijing Children's Hospital.
Proficient in diseases
Diagnosis and treatment of common diseases in pediatric internal medicine, especially skilled in the diagnosis and treatment of pediatric respiratory system and neurological diseases, such as pediatric convulsions, epilepsy, asthma, and lung infections...
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What is the normal value for phenylketonuria?
Phenylketonuria is a common autosomal recessive genetic disorder and the most common congenital amino acid metabolism disorder. It primarily manifests as intellectual disability, light skin and hair pigmentation, and a mousey urine odor. Newborn screening includes routine screening for phenylketonuria as it is a treatable hereditary metabolic disorder, emphasizing the importance of early diagnosis and treatment. Nowadays, newborn screening systems are widely implemented. Generally, this involves collecting a blood sample through a heel prick, dropping the blood on specialized filter paper, and then air drying before sending it to a screening laboratory to measure the phenylalanine concentration. Typically, a normal concentration should be less than 120 micromoles per liter. If the phenylalanine concentration exceeds 1200 micromoles per liter, it can be diagnosed as classical phenylketonuria.
Phenylketonuria smells like mouse urine.
Phenylketonuria is a common amino acid metabolic disorder primarily caused by a deficiency of phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to the accumulation of phenylalanine and ketone bodies, which are then excreted in large amounts in the urine. This disease is relatively common among genetic amino acid metabolic disorders and is inherited as an autosomal recessive trait. Additionally, due to the lack of phenylalanine hydroxylase, phenylalanine is metabolized through another pathway, resulting in increased production of phenyllactic acid and phenylacetic acid, which are excreted through sweat and urine, giving off a mouse-like urine odor.
Can a baby swim with a cold?
When a baby has a cold, their physical condition is not at its best, which means their physical ability will definitely decline. Under such circumstances, we do not recommend that the baby goes swimming. Swimming can increase physical exertion in the water, and sometimes the water temperature is not properly controlled, which could potentially increase the baby's burden. Especially when there is significant physical exhaustion, and if the water temperature is not well controlled, it may worsen the baby's cold symptoms. Therefore, we advise against swimming in this situation, but you can still give the baby a warm bath. However, make sure the duration is not too long, and the external temperature must also be appropriately managed.
Kawasaki disease sequelae
Kawasaki disease is an autoimmune vasculitis, and since it is vasculitis, it can originate from blood vessels in various parts, including the heart, liver, kidneys, brain, and more. However, it mainly arises from the coronary arteries of the heart. If Kawasaki disease is not effectively treated, some patients can develop coronary artery dilation and even coronary artery aneurysms. Once a coronary artery aneurysm occurs, its complication includes the risk of rupture and bleeding of the aneurysm, which can be difficult to treat if there is severe bleeding. If there is some coronary artery dilation, it can lead to the formation of coronary artery thrombosis, which is also a complication it can cause. However, the vast majority of Kawasaki disease cases, if treated effectively, can prevent coronary artery abnormalities. Therefore, as long as the treatment is timely, most cases will not have significant lasting effects.
Moderate dehydration manifestations in children with diarrhea
In cases of moderate dehydration due to diarrhea in children, some common clinical manifestations include sunken eye sockets. If the anterior fontanelle has not closed in infants under one year old, it may appear sunken, and there can be a decrease in skin elasticity, dry lips and mucous membranes, and a reduction in urine output. Some may also experience increased heart rate, dry mouth, and a preference for drinking. In this situation, it is crucial to promptly rehydrate, primarily through oral rehydration. If oral rehydration is difficult, intravenous rehydration should be administered, while also maintaining the balance of water and electrolytes.
What department should a child with diarrhea visit?
Childhood diarrhea is a disease of the digestive system. If treated at a general hospital, the child should definitely see a pediatrician. If the diarrhea is severe, accompanied by moderate to severe dehydration, it is advisable to visit emergency pediatrics for urgent treatment. If going to a children's specialty hospital, it is recommended to see a gastroenterologist; severe cases can also go to emergency pediatrics. Additionally, if there is mucus, pus, or bloody stool, consider bacterial dysentery or other infectious diarrhea, and it is advised to see an infectious disease specialist. Generally, for ordinary diarrhea, it is advisable to visit a smaller hospital for treatment.
Symptoms of a baby's cold
Generally speaking, common cold symptoms include a runny nose, sneezing, nasal congestion, some may have a cough, and others may have a fever. Generally, after most babies catch a cold, the symptoms are mainly respiratory. A small part may show symptoms of the digestive system, such as vomiting and diarrhea. There are also headaches, mental fatigue, lethargy, sleepiness, etc., so there are many symptoms of a cold.
The causes of phenylketonuria
Phenylketonuria is a common autosomal recessive genetic disorder, the most frequent primary clinical manifestation among congenital amino acid metabolic disorders. It is characterized by intellectual disability, pale skin and hair pigmentation, and a mouse urine-like odor. The main cause is that phenylalanine is an essential amino acid for the human body. The phenylalanine ingested is partly used for protein synthesis and partly converted to tyrosine by the action of phenylalanine hydroxylase, which is necessary for the synthesis of substances like adrenaline, melanin, and thyroxine. The disease is mainly due to a deficiency of phenylalanine hydroxylase, which inhibits the conversion of phenylalanine to tyrosine, resulting in increased concentrations of phenylalanine in the blood, cerebrospinal fluid, and various tissues. At the same time, due to the predominance of the main pathway, the enhancement of the secondary metabolic pathway leads to the deamination of phenylalanine by transaminase, producing a large amount of phenylpyruvic acid, which through oxidation produces a large amount of phenylacetic acid, phenyllactic acid, and p-hydroxyphenylpyruvic acid. These metabolic by-products are excreted in large quantities in the urine, and the high concentrations of phenylalanine and its by-products accumulate extensively in brain tissue, thereby causing damage to brain cells.
Should children with roseola avoid certain foods?
Roseola in infants is an acute febrile and rash disease, caused by human herpesvirus type 6 or 7. The fever usually lasts 3-5 days, with high fever as the main symptom. During this period, infants may also experience other symptoms such as decreased appetite, vomiting, or diarrhea, which can affect the function of the digestive system, leading to indigestion. It is recommended that the diet be light and easy to digest, avoiding spicy, stimulating, and greasy foods, as these are not conducive to digestion nor beneficial for recovery from the illness.
Does rickets have a hereditary component?
Rickets, also known as vitamin D deficiency rickets, is primarily a chronic nutritional disease characterized by skeletal lesions, caused by insufficient vitamin D in infants, children, or adolescents, which leads to disturbances in calcium and phosphorus metabolism. The main feature of this disease is the incomplete calcification of the growth plates and bone tissue in the growing long bones, due to the lack of vitamin D causing incomplete calcification of mature bones. This disease is most common in children under two years old. Its causes may be related to insufficient intake of vitamin D or insufficient sunlight exposure, as well as rapid growth. Additionally, other diseases may influence its development. Therefore, this disease is generally not closely related to genetics.