|
Delayed Developmental Milestone
A delayed milestone, which is also known as a developmental delay, refers to a situation where a child does not reach a particular developmental milestone at the expected age. Developmental milestones refer to a collection of indicators that a child is anticipated to reach as they grow older. Each age group has its distinct set of milestones, representing behaviors that develop gradually and serve as foundational building blocks for growth and ongoing learning. These behavioral milestones fall into various categories of child development stages, including: * Adaptive skills: Activities of daily living, such as putting on clothes, eating, and washing independently. * Cognition and intellect: Involves thinking, solving problems, making judgements and comprehension. * Emotional expression: Includes facial movements, such as a smile when happy, or an action, such as giving a gift to express gratitude * Language: Being able to communicate verbally with speech and/or nonverbally with ges ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pediatrics
Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, Adolescence, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A physician, medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children", derived from the two Ancient Greek, Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires reso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CT Scan
A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or radiology technologists. CT scanners use a rotating X-ray tube and a row of detectors placed in a gantry (medical), gantry to measure X-ray Attenuation#Radiography, attenuations by different tissues inside the body. The multiple X-ray measurements taken from different angles are then processed on a computer using tomographic reconstruction algorithms to produce Tomography, tomographic (cross-sectional) images (virtual "slices") of a body. CT scans can be used in patients with metallic implants or pacemakers, for whom magnetic resonance imaging (MRI) is Contraindication, contraindicated. Since its development in the 1970s, CT scanning has proven to be a versatile imaging technique. While CT is most prominently used in medical diagnosis, i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Imerslund–Gräsbeck Syndrome
Imerslund–Gräsbeck syndrome is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "'' Cubam''" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome. This is a rare disease, with a prevalence about 1 in 200,000, and is usually seen in patients of European ancestry. Vitamin B12 is an important vitamin needed for proper functioning of the bone marrow; if deficient, this may lead to decreased marrow output and anemia. Vitamin B12 has two forms, one of which, along with folate, is important in DNA synthesis. Vitamin B12 is sensitive to acid deformation in the stomach, so a molecule called haptocorrin (R-factor), protects it in the stomach. In the small intestine, a molecule named intrinsic factor (IF), allows vitamin B12 to be absorbed in the ileum. IGS is caused by a mutation in the receptors located in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dihydrofolate Reductase Deficiency
Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia, cerebral folate deficiency and neurological symptoms of varying type and severity. The patient may have a developmental delay and develop epileptic seizures. Treatment Folinic acid Folinic acid, also known as leucovorin, is a medication used to decrease the toxic effects of methotrexate and pyrimethamine. It is also used in combination with 5-fluorouracil to treat colorectal cancer and pancreatic cancer, may be used to ..., a reduced form of folate, is used to correct the reduced 5-MTHF levels in the cerebrospinal fluid and the anemia. This reduces some symptoms of the disease. History DHFR deficiency was first described in 2011 by two different groups of scientists independently. References External links OMIM 613839- description ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coenzyme Q10
Coenzyme Q10 (CoQ10 ), also known as ubiquinone, is a naturally occurring biochemical cofactor (coenzyme) and an antioxidant produced by the human body. It can also be obtained from dietary sources, such as meat, fish, seed oils, vegetables, and dietary supplements. CoQ10 is found in many organisms, including animals and bacteria. CoQ10 plays a role in mitochondrial oxidative phosphorylation, aiding in the production of adenosine triphosphate (ATP), which is involved in energy transfer within cells. The structure of CoQ10 consists of a benzoquinone moiety and an isoprenoid side chain, with the "10" referring to the number of isoprenyl chemical subunits in its tail. Although a ubiquitous molecule in human tissues, CoQ10 is not a dietary nutrient and does not have a recommended intake level, and its use as a supplement is not approved in the United States for any health or anti-disease effect. Biological functions CoQ10 is a component of the mitochondrial electron trans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lesch–Nyhan Syndrome
Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the '' HPRT1'' gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins. The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of L ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Management Of HIV/AIDS
The management of HIV/AIDS normally includes the use of multiple antiretroviral drugs as a strategy to control HIV infection. There are several classes of antiretroviral agents that act on different stages of the HIV life-cycle. The use of multiple drugs that act on different viral targets is known as highly active antiretroviral therapy (HAART). HAART decreases the patient's total burden of HIV, maintains function of the immune system, and prevents opportunistic infections that often lead to death. HAART also prevents the transmission of HIV between serodiscordant same-sex and opposite-sex partners so long as the HIV-positive partner maintains an undetectable viral load. Treatment has been so successful that in many parts of the world, HIV has become a chronic condition in which progression to AIDS is increasingly rare. Anthony Fauci, former head of the United States National Institute of Allergy and Infectious Diseases, has written, "With collective and resolute action n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biotinidase Deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities, and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms. Signs and symptoms Signs and symptoms of a biotinidase deficiency (BTD) can appear several days after birth. These include seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes (including seborrheic dermatitis and psoriasis), and alopecia. If left untreated, the disorder can rapidly lead to coma and death. Neonates with BTD may not exhibit any signs, and symptoms typically appear after the f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, focused interests, and repetitive behaviors, which may include stimming. Formal diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and non-speaking populations. Increased estimates of autism prevalence since the 1990s are primarily attributed to broader cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Academy Of Pediatrics
The American Academy of Pediatrics (AAP) is the largest professional association of pediatricians in the United States. It is headquartered in Itasca, Illinois, and maintains an office in Washington, D.C. The AAP has published hundreds of policy statements, ranging from advocacy issues to Practice of medicine, practice recommendations. Background The Academy was founded in 1930 by 35 pediatricians to address pediatric healthcare standards. , it has 67,000 members in primary care and sub-specialist areas. Qualified pediatricians can become fellows (FAAP). The Academy runs continuing medical education (CME) programs for pediatricians and Subspecialty, sub-specialists. The Academy is divided into 14 departments and 26 divisions. Publications It has the largest pediatric publishing program in the world, with more than 300 titles for consumers and over 500 titles for physicians and other healthcare professionals. These publications include electronic products, professional referenc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
United States Preventive Services Task Force
The United States Preventive Services Task Force (USPSTF) is "an independent panel of experts in primary care and prevention that systematically reviews the evidence of effectiveness and develops recommendations for clinical preventive services". The task force, a volunteer panel of primary care clinicians (including those from internal medicine, pediatrics, family medicine, obstetrics and gynecology, nursing, and psychology) with methodology experience including epidemiology, biostatistics, health services research, decision sciences, and health economics, is funded, staffed, and appointed by the U.S. Department of Health and Human Services' Agency for Healthcare Research and Quality. Intent The USPSTF evaluates scientific evidence to determine whether medical screenings, counseling, and preventive medications work for adults and children who have no symptoms. Methods The methods of evidence synthesis used by the Task Force have been described in detail. In 2007, their metho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
