scholarly journals Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

2021 ◽  
Author(s):  
Matheus Augusto Araújo Castro ◽  
Juliana Heather Vedovato Santos ◽  
Rachel Sayuri Honjo ◽  
Guilherme Lopes Yamamoto ◽  
Débora Romeo Bertola ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Facial Phenotype

scholarly journals Metacarpophalangeal pattern profile analysis in sotos syndrome: A follow-up report on 34 subjects

1988 ◽  
Vol 29 (1) ◽  
pp. 143-147 ◽  
Author(s):  
Merlin G. Butler ◽  
Piet F. Dijkstra ◽  
F. John Meaney ◽  
David D. Gale ◽  
John M. Optiz ◽  
...  
Keyword(s):  
Profile Analysis ◽  
Sotos Syndrome

scholarly journals Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report

2021 ◽  
Vol 5 (5) ◽  
Author(s):  
Khuraman Isgandarova ◽  
Stephan Molatta ◽  
Philipp Sommer
Keyword(s):  
Digeorge Syndrome ◽  
Late Onset ◽  
Endocrine System ◽  
Magnetic Resonance Tomography ◽  
Appropriate Treatment ◽  
Cardiac Magnetic Resonance Tomography ◽  
Facial Phenotype ◽  
Transient Loss ◽  
Facial Dysmorphia

Abstract Background DiGeorge syndrome, also known as ‘CATCH 22’, is the most common deletion in humans and is one of the velocardiofacial syndromes. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the cardiac and endocrine systems. One form of endocrine system dysfunction is hypocalcaemia, which causes arrhythmic events and can result in a transient loss of consciousness. We present a case highlighting the late diagnosis of DiGeorge syndrome in a patient with recurrent episodes of syncope due to suspected arrhythmic events secondary to hypocalcaemia. Case summary A 44-year-old woman was referred for further investigation of recurrent syncope episodes and documented transient QT-prolongation with hypocalcaemia. Previous detailed cardiological examination, including invasive procedures such as coronary angiography and cardiac magnetic resonance tomography, was unremarkable. Slight characteristic facial dysmorphia and transient hypocalcaemia were strongly suggestive of DiGeorge syndrome. The diagnosis was confirmed by genetic testing. Calcium substitution was initiated and no recurrent episodes of syncope or arrhythmic events were reported during 12 months of follow-up. Discussion Clinical presentation and time of manifestation of the DiGeorge syndrome varies widely depending on the mutation expression extent. An atypical disease course may delay the diagnosis and appropriate management of affected patients. In this case, confirmation of the diagnosis allowed the initiation of appropriate treatment, reducing the risk for further events. Given that syncope and arrhythmia can be the first and only manifestation of late-onset DiGeorge syndrome, specialists in adult cardiology need to be aware of this presentation.

Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up

Epilepsia ◽  
2012 ◽  
Vol 53 (6) ◽  
pp. e102-e105 ◽  
Author(s):  
Francesco Nicita ◽  
Martino Ruggieri ◽  
Agata Polizzi ◽  
Laura Mauceri ◽  
Vincenzo Salpietro ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Long Term Follow Up ◽  
Caucasian Patients ◽  
Syndrome Analysis

scholarly journals Sotos syndrome and scoliosis surgical treatment: a 10-year follow-up

2011 ◽  
Vol 20 (S2) ◽  
pp. 271-277 ◽  
Author(s):  
Romina Corrado ◽  
Alejandra Francheri Wilson ◽  
Carlos Tello ◽  
Mariano Noel ◽  
Eduardo Galaretto ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Sotos Syndrome

Outcomes of children adopted from Eastern Europe

2009 ◽  
Vol 33 (4) ◽  
pp. 289-298 ◽  
Author(s):  
Laurie Miller ◽  
Wilma Chan ◽  
Linda Tirella ◽  
Ellen Perrin
Keyword(s):  
Risk Factors ◽  
Behavioral Problems ◽  
Prenatal Alcohol Exposure ◽  
Alcohol Exposure ◽  
Parent Stress ◽  
Eastern European ◽  
Child Externalizing Behaviors ◽  
Facial Phenotype ◽  
Prenatal Alcohol

Behavioral problems are frequent among post-institutionalized Eastern European adoptees. However, risk factors related to outcomes have not been fully delineated. We evaluated 50 Eastern European adoptees, age 8—10 years, with their adoptive families for more than five years. Cognitive and behavioral outcomes and parenting stress were evaluated in relation to pre-adoptive risk factors, including arrival age, growth, and facial phenotype related to prenatal alcohol exposure. At follow-up, IQ and achievement scores were ≥ average in most children (≥74%). Behavioral and school problems were common (externalizing 44%, internalizing 18%, behavioral symptoms 50%, attention deficit hyperactivity disorder (ADHD) 46%, learning disabilities 40%, mental health disorders 28%); 38% had multiple problems. Behavioral problems correlated inversely with IQ. Parent stress was high and correlated with child externalizing behaviors and inversely to child full scale IQ. Children with “severe behavioral disturbances” (24%) were more likely to have had smaller head circumferences at arrival. Child's age at adoption related inversely to parent stress, possibly due to the longer duration of time that children resided with their families. “High/intermediate risk” phenotypic facial scores for prenatal alcohol exposure (58%) correlated with head circumference z scores at arrival and follow-up. Otherwise, arrival age, growth, and facial phenotype did not correlate with these specific outcome measures.

Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

2019 ◽  
Vol 42 ◽  
Author(s):  
John P. A. Ioannidis
Keyword(s):  
Mental Health ◽  
Mental Disease ◽  
Brain Disorders ◽  
Social Stressors ◽  
Labor Education ◽  
Mental Diseases ◽  
Long Term Follow Up ◽  
Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

Brief summary of Kleť photographic search programme for minor planets

1999 ◽  
Vol 173 ◽  
pp. 189-192
Author(s):  
J. Tichá ◽  
M. Tichý ◽  
Z. Moravec
Keyword(s):  
Ccd Camera ◽  
Minor Planet ◽  
Minor Planets ◽  
Main Belt

AbstractA long-term photographic search programme for minor planets was begun at the Kleť Observatory at the end of seventies using a 0.63-m Maksutov telescope, but with insufficient respect for long-arc follow-up astrometry. More than two thousand provisional designations were given to new Kleť discoveries. Since 1993 targeted follow-up astrometry of Kleť candidates has been performed with a 0.57-m reflector equipped with a CCD camera, and reliable orbits for many previous Kleť discoveries have been determined. The photographic programme results in more than 350 numbered minor planets credited to Kleť, one of the world's most prolific discovery sites. Nearly 50 per cent of them were numbered as a consequence of CCD follow-up observations since 1994.This brief summary describes the results of this Kleť photographic minor planet survey between 1977 and 1996. The majority of the Kleť photographic discoveries are main belt asteroids, but two Amor type asteroids and one Trojan have been found.

Intranuclear Crystals in Regenerating Canine Kidneys

1973 ◽  
Vol 31 ◽  
pp. 412-413
Author(s):  
D.G. Osborne ◽  
L.J. McCormack ◽  
M.O. Magnusson ◽  
W.S. Kiser
Keyword(s):  
Epithelial Cell ◽  
Epithelial Cells ◽  
Tubular Epithelial Cell ◽  
Tubular Epithelial Cells ◽  
Cell Nuclei ◽  
Crystalline Structures ◽  
Small Crystals ◽  
Membrane Bound

During a project in which regenerative changes were studied in autotransplanted canine kidneys, intranuclear crystals were seen in a small number of tubular epithelial cells. These crystalline structures were seen in the control specimens and also in regenerating specimens; the main differences being in size and number of them. The control specimens showed a few tubular epithelial cell nuclei almost completely occupied by large crystals that were not membrane bound. Subsequent follow-up biopsies of the same kidneys contained similar intranuclear crystals but of a much smaller size. Some of these nuclei contained several small crystals. The small crystals occurred at one week following transplantation and were seen even four weeks following transplantation. As time passed, the small crystals appeared to fuse to form larger crystals.

Electron Microscopy of Human Gallstones

1971 ◽  
Vol 29 ◽  
pp. 296-297
Author(s):  
C. Wolpers ◽  
R. Blaschke
Keyword(s):  
Electron Microscopy ◽  
Room Temperature ◽  
Bile Pigment ◽  
X Ray Diffraction ◽  
Triclinic Crystal System ◽  
X Ray ◽  
Follow Up Study ◽  
Infra Red ◽  
Main Components

Scanning microscopy was used to study the surface of human gallstones and the surface of fractures. The specimens were obtained by operation, washed with water, dried at room temperature and shadowcasted with carbon and aluminum. Most of the specimens belong to patients from a series of X-ray follow-up study, examined during the last twenty years. So it was possible to evaluate approximately the age of these gallstones and to get information on the intensity of growing and solving.Cholesterol, a group of bile pigment substances and different salts of calcium, are the main components of human gallstones. By X-ray diffraction technique, infra-red spectroscopy and by chemical analysis it was demonstrated that all three components can be found in any gallstone. In the presence of water cholesterol crystallizes in pane-like plates of the triclinic crystal system.

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