What is the Developmental Outcomes of Patients with 22q11 Deletion Sequence?

Discussion 22q11.2 deletion sequence (22q11) is the most common micro-deletion syndrome. Most deletions are de novo. It affects ~1 in 2000-4000 live births. As it is autosomal, it affects males and females equally. Childhood mortality is low and often associated with congenital heart defects. Its phenotypic expression is highly variable. Some of the most common medical problems are: Congenital heart defects especially conotruncal abnormalities Palatal problems especially velopharyngeal incompetence and/or cleft lip/palate Immunodeficiency especially T-cell lymphopenia, but also abnormalities of IgG production, autoimmune and humoral defects Hypoparthyroidism resulting in hypocalcemia – may be evident also only at times of stress Genitourinary abnormalities – renal agensis, hydronephrosis, absent uterus, cryptoorchidism, hypospadias Feeding – gastroesophageal reflux, dysphagia, constipation Dysmorphic features included hooded eyelids, hypertelorism, auricular or nasal abnormalities, small mouth and micrognathia. Cleft lip, cleft palate and Pierre Robin Sequence are also seen. Learning Point The cognitive and social phenotypes of patients with 22q11 has a wide variability in the overall development and trajectory of individual children because of genetics and the environment. In infancy and early childhood (0-4 years) studies show more gross motor and expressive language delays compared to siblings or other controls. In preschool to adolescence (4-18 yea...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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DiscussionIt is feasible for those with schizophrenia to use their own smartphones to complete cognitive assessments and other measures related to their mental health. While we did not investigate the correlations between these cognitive assessments and other smartphone captured metrics like step count or self-reported symptoms, the potential to longitudinally assess cognition in the context of patients' environments outside of the clinic presents unique opportunities for characterizing cognitive burden in schizophrenia.
Source: Schizophrenia Research: Cognition - Category: Psychiatry Source Type: research
Publication date: Available online 18 April 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Lisa M. ChristianAbstractBirth prior to full term is a substantial public health issue. In the US, ˜400,000 babies per year are born preterm (1 million are early term (37–386/7 weeks). Birth prior to full term confers risk both immediate and long term, including neonatal intensive care, decrements in school performance, and increased mortality risk from infancy through young adulthood. Risk for low birth weight and preterm birth are 1.5-2 times greater among African Americans versus Whites. Psychosocial str...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Publication date: Available online 18 April 2019Source: NeurocomputingAuthor(s): Hai Xie, Haijun Lei, Yejun He, Baiying LeiAbstractHuman Epithelial-2 (HEp-2) cell images play an important role for the detection of antinuclear autoantibodies (ANA) in autoimmune diseases. Segmentation is the primary step for classification, further treatment and diagnosis. However, the staining patterns and scales of HEp-2 specimen images have different variances, which still make segmentation quite a challenging task. To solve it, we propose a novel deeply supervised full convolutional network (DSFCN) for robust segmentation of different HE...
Source: Neurocomputing - Category: Neuroscience Source Type: research
ConclusionsAutoconnectivity is cognitive state dependent (resting-state vs. task) and mental state dependent (healthy vs. schizophrenia). The concept of autoconnectivity resembles a recurrent neural network and provides a new perspective of functional integration in the brain. These findings may have important implications for understanding of brain function in health and disease as well as for analysis of fMRI time-series.
Source: Journal of Neuroscience Methods - Category: Neuroscience Source Type: research
In conclusion, G-CSF had beneficial effects after cerebral ischemia on the neurological behavioral outcome, infarct volume and preserved the regular spatial distribution of CA1 hippocampal neurons.
Source: Journal of Chemical Neuroanatomy - Category: Neuroscience Source Type: research
Conclusion: Esophageal pH values decreased and continued to remain low following IAP increase and TP in this experimental rat model. Prolonged laparoscopic procedures can particularly lead to GER that requires instant recognition and rapid and appropriate intervention. PMID: 30997979 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Conclusion: Cardiac left ventricular and arterial functions are affected in psoriatic children and may be an alarming sign of atherosclerotic heart disease in the long term. Early detection of these changes may be helpful for eliminating other risk factors. PMID: 30997977 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Conclusion: Based on the results obtained, the Turkish version of the PRWHE questionnaire was found to be a valid and reliable scale and it is recommended for the evaluation of patient-based pain and disability level in routine clinical practice. PMID: 30997792 [PubMed - in process]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Tomorrow marks the 20th anniversary of the school shooting in Columbine, Colo., that claimed the lives of 15 people, and the media have already begun to bombard viewers with images and footage of the massacre ’s aftermath. Although it’s natural to turn to the news to get information about such events, watching coverage of them over and over may be harmful to mental health, according to astudy inScience Advances. The researchers, led by Roxane Cohen Silver, Ph.D., at the University of California, Irvine, found that media exposure to traumatic events may make viewers more emotionally sensitive to news reports of ...
Source: Psychiatr News - Category: Psychiatry Tags: Boston Marathon bombing Columbine mass disasters media exposure Pulse nightclub shootings Roxane Cohen Silver violence Source Type: research
PMID: 30992122 [PubMed - in process]
Source: Vaccine - Category: Allergy & Immunology Authors: Tags: Vaccine Source Type: research
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