A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. Eur J Med Genet. 2018 Nov 13;: Authors: Mancini C, Zonta A, Botta G, Klobus AB, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A Abstract Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by recessive mutations in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa anomalies, cerebral ventricular enlargement, cleft spine involving the sacral and lower-lumbar vertebrae, and bilateral microphthalmia. Micrognathia, four fingers in both feet and a slight tibial bowing were added to the clinical picture after fetal autopsy. Exome sequencing identified two mutations in the SMOC1 gene, each inherited from one of the parents: c.709G > T - p.(Glu237*) on exon 8 and c.1223G > A - p.(Cys408Tyr) on exon 11, both predicted to be pathogenic by different bioinformatics software. Brain histopathology showed an abnormal cortical neurona...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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ConclusionsSupervised group exercise did not improve psychological well ‐being for women with or at high risk of depression at 29‐34 weeks of gestation. Eight weeks postpartum the intervention group reported significantly higher psychological well‐being than the control group. Based on our results, supervised exercise in groups is a safe complementary course of t reatment alongside the existing antenatal care.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
ConclusionsSupervised group exercise did not improve psychological well ‐being for women with or at high risk of depression at 29–34 weeks of gestation. Eight weeks postpartum the intervention group reported significantly higher psychological well‐being than the control group. Based on our results, supervised exercise in groups is a safe complementary course of tr eatment alongside the existing antenatal care.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
TITUSVILLE, N.J. – (August 3, 2020) – The Janssen Pharmaceutical Companies of Johnson &Johnson today announced that the U.S. Food and Drug Administration (FDA) has approved the supplemental new drug application (sNDA) for SPRAVATO® (esketamine) CIII nasal spray, taken with an oral antidepressant, to treat depressive symptoms in adults with major depressive disorder (MDD) with acute suicidal ideation orbehavior.1 SPRAVATO® is the first and only approved medicine that has been shown to reduce depressive symptoms within 24 hours,1 providing a new option for significant symptom relief until a longer-ter...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
  Take the bull by the horns! Pick yourself up by your bootstraps! Are these cliches condescending for people with mental illness? Or is there a grain of truth to them? Today, Gabe and Lisa debate the pros and cons of the all too common “taking your life back” advice we all get from well-meaning people. Gabe shares his personal story of gaining back control of his life a day at a time while healing from depression. When you struggle with mental illness, how much of your behavior, thoughts and emotions do you actually have control over? Is it helpful to feel in control of your life, even when it screws you...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: General Mental Health and Wellness Not Crazy Podcast Self-Help Source Type: blogs
Abstract Adolescent females are disproportionately at risk for depression, which is expected to represent the leading cause of disability in 2030 (National Institute of Mental Health [NIMH] 2019). Although prior research has suggested that both child maltreatment and adolescent pregnancy increase the risk for depressive symptoms, less is known about how these two interact to influence depression in late adolescence. The present study tested the unique and interactive effects of adolescent pregnancy and child maltreatment on late-adolescent depressive symptomatology (N = 186) with a prospective, longi...
Source: Journal of Abnormal Child Psychology - Category: Psychiatry & Psychology Authors: Tags: J Abnorm Child Psychol Source Type: research
CONCLUSIONS: Low-certainty evidence means we are not certain if there is any difference between probiotic and placebo groups in maternal hypertensive disorders of pregnancy, caesareans; and large-for-gestational-age babies. There were no adverse events reported by the trials. Due to the variability of probiotics used and small sample sizes of trials, evidence from this review has limited ability to inform practice. Well-designed adequately-powered trials are needed to identify whether probiotics may improve maternal blood glucose levels and/or infant/child/adult outcomes; and whether they can be used to treat GDM. PMI...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Some of the professionals that work most with helping people with schizophrenia are nurses. There are so many types with different skill sets. Host Rachel Star Withers and Co-host Gabe Howards learn who these often overlooked healthcare workers are. Dr. Tari Dilks, Professor and President of the American Psychiatric Nurses Association, joins with insight on what goes into being a psychiatric nurse.  Highlights in “The Role Nurses Play in Schizophrenia Treatment” Episode [01:14] Doctor sidekicks? [04:00] The types of nurses [06:40] Nurse Practitioners [11:00] Nurses specialties [13:00] Psychiatric Nursin...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Inside Schizophrenia Mental Health and Wellness Psychiatry Psychology Mental Disorder Mental Illness Nurses Nursing Psychiatric Nurse Psychotherapy Treatment For Schizophrenia Source Type: blogs
We examined patterns of prescription for childbearing-aged women (late adolescence/young adulthood aged 18–24 years, childbearing-age, older adults aged 25–49 years) and pregnant women.ResultsIn total, 571 psychiatrists (427 males, 123 females, and 21 unknowns) responded appropriately to the questionnaire, including 320 who examined at least one or more late adolescence/young adulthood bipolar women. Approximately 70% of psychiatrists answered that they frequently or sometimes prescribed valproate for bipolar women of childbearing age [late adolescence/young adulthood: not at all, n = 23 (7.5%); rarel...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Authors: Andrade C Abstract Many observational studies have found an association between antidepressant drug prescription during pregnancy and neurodevelopmental disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder, and intellectual disability. The results of such studies cannot be considered conclusive because of the possible presence of inadequately measured, unmeasured, and unknown confounds. In this context, maternal anemia before or at but not after 30 weeks of gestation was recently associated with an increased risk of all 3 of these neurodevelopmental disorders. Additionally, ...
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
DiscussionThis, to the best of our knowledge, will be the first fully-powered trial of an intervention package specifically designed to address the unique needs of adolescents with perinatal depression.Trial registrationISRCTN16775958. Registered on 30 April 2019.
Source: Trials - Category: Research Source Type: clinical trials
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