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The Bottleneck in Genetic Testing [PDF]
Progress in science is a continuum but not uniform. Occasional sparks, typically ignited by the so-called disruptive discoveries, decorate the continuum. Relevant to this editorial on advances in the genetic testing technologies, is the disruptive technology of capillary sequencing, also known as Sanger sequencing.1 It enabled the initial sequencing of
openaire +2 more sources
Genetic Testing for Pheochromocytoma [PDF]
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis.
David, Karasek +2 more
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Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte +5 more
wiley +1 more source
Efficient and rapid auxiliary diagnosis of different grades of lung adenocarcinoma is conducive to helping doctors accelerate individualized diagnosis and treatment processes, thus improving patient prognosis. Currently, there is often a problem of large
Zexin Wang +8 more
doaj +1 more source
Intra-tumor heterogeneity (ITH) fosters tumor evolution, resistance to therapy, and relapse. Recently, many evidence have been accumulated on the occurrence of genetic ITH in pediatric cancers.
Sara Ciceri +11 more
doaj +1 more source
ABSTRACT Background Platinum‐based chemotherapy is known to cause severe and debilitating hearing loss, but unlike cisplatin, the true incidence of carboplatin‐induced hearing loss remains unclear. We evaluated functional hearing outcomes in children receiving carboplatin to determine the incidence and severity of ototoxicity. Procedure We identified a
Aniket Chawla +6 more
wiley +1 more source
Rapid detection of Pseudomonas aeruginosa by glycerol one-pot RAA/CRISPR-Cas12a method
Pseudomonas aeruginosa (PA), an opportunistic pathogen commonly responsible for hospital-acquired infections, poses significant threats to human health.
Lijian Wei +29 more
doaj +1 more source
Re‐Irradiation in Pediatric Diffuse Midline Glioma: A Multi‐Institutional Retrospective Study
ABSTRACT Background Children with recurrent diffuse midline gliomas (DMGs) have limited therapeutic options at recurrence. Re‐irradiation (RT2) may be used at progression, but with uncertainty about the benefit. Methods We conducted a multi‐institutional retrospective study of children aged < 18 with DMG treated at three centers (Toronto, Canada ...
Ajay Thomas Alex +13 more
wiley +1 more source
Klebsiella pneumoniae detection by a light-controlled one-pot RPA-CRISPR/Cas12a method
BackgroundKlebsiella pneumoniae (KP) is a significant pathogenic bacterium responsible for severe infections in hospitals. However, existing traditional detection techniques, such as culture and PCR, are relatively inefficient. Therefore, this study aims
Lele Pan +33 more
doaj +1 more source
Background: Carbapenem-resistant Klebsiella pneumoniae (CRKP) appeared recently and now presents a particularly critical problem to hospitalized patients worldwide.
Lili Fang +21 more
doaj +1 more source

