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Sao Paulo [Brazil], February 17 (ANI): Brazilian researchers described the case of a nine-year-old boy admitted to the hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, including short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.
The article was published in the Journal of Pediatrics.
The scientists searched for [...]
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En un artículo publicado en el The Journal of Pediatrics, científicos de la Universidad de São Paulo (USP), en Brasil, describen el caso de un niño de nueve años que arribó al hospital con una amplia gama de síntomas y condiciones que enredaron el diagnóstico: baja estatura, formación incompleta del esmalte dental (hipoplasia), discapacidad intelectual moderada, retraso en el habla, asma, historial de infecciones recurrentes durante [...]
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Complex Diagnosis Unraveled
In a recent study published in the Journal of Pediatrics, researchers from Brazil recounted the challenging case of a nine-year-old boy admitted to hospital with a myriad of symptoms, including short stature, dental enamel hypoplasia, moderate mental deficiency, speech delay, asthma, altered blood sugar, and a history of recurring infections during infancy. The overlapping nature of these conditions made diagnosis difficult, prompting the team to employ exome [...]
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Complex Diagnosis Unraveled
In a recent study published in the Journal of Pediatrics, researchers from Brazil recounted the challenging case of a nine-year-old boy admitted to hospital with a myriad of symptoms, including short stature, dental enamel hypoplasia, moderate mental deficiency, speech delay, asthma, altered blood sugar, and a history of recurring infections during infancy. The overlapping nature of these conditions made diagnosis difficult, prompting the team to employ exome [...]
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In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.
The team used exome sequencing, in which only the [...]
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In a recent study, researchers have emphasized the critical role of genetic sequencing in accurately diagnosing growth disorders. This breakthrough technology has the potential to revolutionize the field of healthcare by providing personalized treatment plans based on an individual's genetic makeup.
The Significance of Genetic Sequencing
Genetic sequencing allows healthcare professionals to identify specific genetic mutations that may be responsible for growth disorders in patients. [...]
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MPI News
- Publicado em 19 fevereiro 2024
In a recent study, researchers have emphasized the critical role of genetic sequencing in accurately diagnosing growth disorders. This breakthrough technology has the potential to revolutionize the field of healthcare by providing personalized treatment plans based on an individual's genetic makeup.
The Significance of Genetic Sequencing
Genetic sequencing allows healthcare professionals to identify specific genetic mutations that may be responsible for growth disorders in patients. [...]
-
In a recent study, researchers have emphasized the critical role of genetic sequencing in accurately diagnosing growth disorders. This breakthrough technology has the potential to revolutionize the field of healthcare by providing personalized treatment plans based on an individual's genetic makeup.
The Significance of Genetic Sequencing
Genetic sequencing allows healthcare professionals to identify specific genetic mutations that may be responsible for growth disorders in patients. [...]
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Study Highlights Importance of Genetic Sequencing to Diagnosis of Growth Disorders
Published on February 19, 2024
In a groundbreaking study, researchers based in Brazil have shed light on the critical role of genetic sequencing in diagnosing growth disorders. Their findings, published in the Journal of Pediatrics, underscore the value of this cutting-edge technology in unraveling complex medical cases.
The Case of a Nine-Year-Old Boy
The study centers around a [...]
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Brazilian researchers described the case of a nine-year-old boy admitted to the hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, including short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy. The article was published in the Journal of Pediatrics.
The scientists searched for genetic alterations in GCK and BCL11B using [...]