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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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
Credit: Patrick Burnett/IPSBy Ifeanyi NsoforABUJA, Feb 25 2020 (IPS) Recently, Nigerian feminist author Ukamaka Olisakwe spoke about her post-partum depression after giving birth in the city of Aba, southeast Nigeria. This follows her 2019 Longreads essay, in which she narrated painful details of her experience.  In 2007, Olisakwe was 24 years old when she had her first encounter with post-partum depression. She had just given birth to her first child of three – a daughter. Olisakwe’s experience convinced her that, No one really cares about how the women feel, i...
Source: IPS Inter Press Service - Health - Category: International Medicine & Public Health Authors: Tags: Global Headlines Health TerraViva United Nations Post-partum depression Source Type: news
(CNN) — Science shows moderate to vigorous aerobic exercise is good for us — it improves sleep; lowers blood pressure; protects against heart disease, diabetes and cancer; reduces stress; boosts mood; and fights anxiety and depression. It’s especially important in adolescence, where the first signs of depression often begin, studies show. But unless your child is an athlete, it can be tough to wean them away from social media and the ever-present screen to swim laps or go for a blood-pumping jog. A new study has some good news: even light exercise may help protect children against developing depression. T...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Health News Syndicated CBSN Boston CNN Depression Source Type: news
Abstract The South Asian region, including Pakistan, reports one of the highest rates of perinatal depression. Effective task-shifting perinatal mental health interventions exist and are gaining attention of policy makers, as a potential solution to bridge the existing treatment gap. However, no specific indicators are available to gauge the level of implementation for such interventions in the South Asian region. The Thinking Healthy Programme Peer-delivered (THPP) is a perinatal mental health intervention delivered, at scale, by peer volunteers (PVs). An effectiveness trial for THPP based on 570 depressed pregna...
Source: Behaviour Research and Therapy - Category: Psychiatry & Psychology Authors: Tags: Behav Res Ther Source Type: research
ConclusionsAutistic mothers face unique challenges and the stigma associated with autism may further exacerbate communication difficulties. Greater understanding and acceptance amongst individuals who interact with autistic mothers is needed, and autistic mothers would benefit from additional and better-tailored support.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
The dangers of alcohol begin at the first sip of the first drink. Although most responsible drinking habits shouldn’t be cause for major concern, everyone who drinks runs the risk of encountering the negative effects of alcohol. The Dietary Guidelines for Americans defines moderate drinking as up to 1 drink per day for women and up to 2 drinks per day for men.  A single drink is considered as: 12 ounces of beer (5% alcohol content) 8 ounces of malt liquor (7% alcohol content) 5 ounces of wine (12% alcohol content) 1.5 ounces of 80-proof (40% alcohol content) distilled spirits or liquor (e.g., gin, rum, vodka, ...
Source: Cliffside Malibu - Category: Addiction Authors: Tags: Alcohol Alcohol Rehab Information Alcoholism alcohol abuse alcohol dependence alcohol dependency alcohol detox alcohol treatment alcohol treatment center alcohol treatment facility Alcoholics Anonymous Source Type: blogs
This patient was working on his truck in a garage without ventilation and the vehicle was running. He felt dizzy and lost consciousness. The next thing he remembers is waking up in the ambulance. He was last seen normal at 09:00 AM and was found down at 10:30 AM. He denied chest pain, abdominal pain, SOB or any other symptoms, though he did endorse chest pressure when asked specifically.He underwent a routine ECG prior to hyperbaric therapy for CO poisoning:Obvious Massive STEMI, Proximal LAD OcclusionHis CO level returned at 34%.Further h/o revealed that he had had a proximal LAD stent placed for a Non-Occlusion MI more t...
Source: Dr. Smith's ECG Blog - Category: Cardiology Authors: Source Type: blogs
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