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Syndromology belongs to diagnostic methods based on the analysis of phenotypic (clinical or anatomical--dysmorphics) features, which occur very often together and have a common etiology (e.g. teratogenic embryopathy, numerical and structural chromosomal aberrations or gene mutations). In the phenotype analysis important appear so-called signal features, which enable to narrow the range of possible disorders for the differential diagnosis of the assumptive diseases.
Jonathan Hutchinson (Fig. (Fig.1a,1a, b), London surgeon of the latter half of the 19th century, was an exceptionally astute clinical observer. He was, furthermore, an assiduous and prolific recorder of observations over a wide range of fields. In his prime he did for many years all the onerous work of a surgeon at the London Hospital. He was president of the Royal College of Surgeons in 1888, and is said to have still been doing mastectomies at age 70. But he also worked at the Moorsfield Eye Hospital and in 1863 published a monograph entitled “A Clinical Memoir on Certain Diseases of the Eye and Ear, consequent on Inherited Syphilis,” containing early fundus portraits prepared by his long-time artist-illustrator Edwin Burgess, scarcely a decade after the invention of the ophthalmoscope. In addition, he worked at Blackfriar's Skin Hospital and was president of an international congress of dermatology (1896). He was a mentor and collaborator of pioneer neurologist Hughlings Jackson and president of the Neurological Society in 1887.
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Syndromes of congenital malformations are interesting and challenging phenomena which deserve observation, description and treatment of the children and adults who are afflicted by these multiple birth defects. However, the highest level of syndrome research is etiologic research, because knowledge of the causes of multiple congenital malformations promises prevention. Although naming syndromes and classifications are important auxiliary activities, they must not be our final goal. The infinite number of combinations of congenital defects suggests that terminology and classification should be tentative and flexible and that rigidity be avoided. The same holds for statements of causation. I tried to make it clear that we are far from a full understanding of all the principles involved in the etiology of malformations. Many unexpected discoveries along these lines have been made during my lifetime and many of those who pretended to have the final answers were shown to be wrong. It was particularly distressi...
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Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first described by Albert Schinzel as early as in 1979, but the diagnosis of this syndrome still remains challenging. Here we report a family with 2 sibs with acrocallosal syndrome caused by novel mutations in KIF7. They present with features like molar tooth sign and hyperventilation that are not very typical in ACLS, but do occur in other ciliopathies, hence we also discuss the clinical heterogeneity of KIF7-associated disorders.
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Two newly confirmed "super-puff" planets are so diffuse that they are less dense than cotton candy, despite being about the size of Jupiter。 Their rare orbital relationship and enormous, lightweight atmospheres could provide valuable clues about how some of the strangest planets in the galaxy come to exist
A centimeter-sized crystal has revealed clear signs of quantum entanglement, showing that large, everyday objects can display surprisingly deep quantum behavior。 The discovery could help solve the mystery of strange metals while opening new possibilities for ultra-precise quantum sensors and other advanced technologies
A major breakthrough in quantum technology has turned magnons, tiny magnetic waves once considered too short-lived for practical use, into promising carriers of quantum information。 Researchers extended their lifetime by nearly 100 times, reaching up to 18 microseconds, and discovered that the main limitation is not a law of physics but the purity
A new AI-powered framework could transform how astronomers measure the expansion of the Universe。 By analyzing images of Type Ia supernovae and modeling their environments in unprecedented detail, researchers can estimate cosmic distances with near-spectroscopic accuracy。 The technique is designed for the flood of data expected from the upcoming Ve
Engineers at a deep underground research facility noticed something strange during major rainstorms: airflow underground sometimes reversed direction。 Using new sensors and mathematical modeling, they found that water rushing down a shaft was effectively pushing air through the tunnels like a giant piston。 The breakthrough explains a long-standing
Physicists have developed a new optical centrifuge that can precisely spin molecules inside a superfluid for the first time。 The advance could help unravel some of the biggest mysteries of quantum liquids and reveal how superfluidity breaks down at the atomic scale
A strange "chirping" signal from a distant supernova has revealed the birth of a magnetar, confirming that these incredibly magnetic neutron stars can power the universe's brightest stellar explosions。 The discovery also marks the first time Einstein's general relativity has been used to explain the mechanics of a supernova
Celebrating the United States' 250th anniversary, NASA released a stunning Hubble portrait of Messier 3, an ancient globular cluster with more than 500,000 stars。 The remarkable cluster is helping scientists unravel the Milky Way's past thanks to its rare stars and possible origins in a long ago cosmic merger
Astronomers may have witnessed one of the rarest and most dramatic cosmic events ever seen: a long-sought intermediate-mass black hole ripping apart a dense white dwarf star and devouring it。 The Einstein Probe space telescope caught the explosion in its earliest moments, revealing an unusual sequence of intense X-ray flashes unlike anything seen i
What if one of the biggest assumptions in cosmology is wrong。 New research suggests the universe may not be perfectly uniform in every direction, as scientists have long believed。 A puzzling mismatch known as the cosmic dipole anomaly shows that the distribution of distant galaxies and quasars doesn’t align with patterns seen in the leftover glow o
SETI scientists searched the interstellar object 3I/ATLAS for radio signals that could indicate extraterrestrial technology but found nothing beyond human-made interference。 Even so, the rapid-response observations helped confirm the object's natural origin and showcased how future interstellar visitors can be investigated for signs of intelligent
It's early, but the plan is to reduce dependency on Nvidia and Huawei