What is the Lifespan for a Child with Holoprosencephaly?
Discussion Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.” There are four distinct subtypes: Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected. Semilobar – the cerebral hemispheres are fused anteriorly but are separated posteriorly. There is agenesis or hypoplasia of the corpus callosum and the olfactory bulbs and tracts are usually absent. Facial features are often affected. Lobar – the cerebral hemispheres are almost completely separated however the corpus callosum and olfactory lobes may be incompletely developed. Facial features may not be affected or are affected to a lesser degree. Middle interhemispheric – occurs when the posterior frontal and parietal lobes are incompletely separated. This is the least severely affected form. The prevalence of HPE is one in 10,000 to 100,000 live births depending on the study. In certain subtypes there is a female preponderance. “Cyclopia a congenital malformation characterized by the presence of a single eye,…located in the middle of the face in the place normally occupied by the roof of ...
Publication date: Available online 20 September 2020Source: Materials Today: ProceedingsAuthor(s): Mohd Javeed Mehdi, N Srinivasrao, A Sireesha
There is good news and bad news when it comes to our understanding of inflammation in the pathogenesis and treatment of major depressive disorder (MDD). The bad news is that, like the dexamethasone suppression test or the efficacy of antidepressants before it, inflammation is oversold as an answer to the mystery of depression and its treatment. The good news is that an unusually replicable set of findings (for psychiatry) increasingly paints a consistent picture of the ways in which inflammation is of value in understanding MDD.
Challenges to the diagnosis and treatment of patients with psychiatric disorders have long been acknowledged in the field. In recent years, efforts have been made to identify genomic biomarkers for psychiatric disorders. A link between immune function and major depressive disorder (MDD) has been suggested for decades (1), but the identification of differentially expressed genes (DEGs) that underlie immune function as biomarkers for MDD has been more recent. Hundreds of DEGs have been reported for transcriptome-wide association studies (TWASs) of MDD.
to: “Major Depressive Disorder Is Associated With Differential Expression of Innate Immune and Neutrophil-Related Gene Networks in Peripheral Blood: A Quantitative Review of Whole-Genome Transcriptional Data From Case-Control Studies,” by Wittenberg et al. (Biol Psychiatry 2020; 88:625–637); http s://doi.org/10.1016/j.biopsych.2020.05.006.
Presentation of CF, airway clearance regimens, diabetes in CF, and other highlights from the cystic fibrosis episode of The Cribsiders podcast.Medscape Pediatrics
CONCLUSION: Type 4 collagen could predict the presence of significant and advanced fibrosis in NAFLD patients and it would be a useful tool in routine clinical practice. PMID: 32949785 [PubMed - as supplied by publisher]
Decline in global cognitive z - score faster for individuals with ≤ 4 hours, ≥ 10 hours of sleep nightly
Abstract Pulmonary comorbidities and ASA physical status class III and IV can significantly increase the rate of major complications after ISC placement. Patients with an underlying pulmonary comorbidity or lung disease (chronic obstructive pulmonary disease, asthma, or obstructive sleep apnea) have a 2.2-fold increased risk of having any complication and a 2.4-fold increased risk of having a major pulmonary complication compared to those without pulmonary comorbidities. Patients with pulmonary comorbidities may benefit from alternative pain management strategies to avoid complications in the early postoperative p...
Abstract Patellar instability and associated patellar dislocation can result in significant pain, disability, and associated injuries in young athletes. The patellofemoral joint is a complex articulation with stabilizing restraints, both medially and laterally, that help guide the patella into the corresponding trochlear groove as the knee cycles through an extension-to-flexion arc. In addition to soft tissue injuries, many osseous aberrancies can contribute to patellar instability in young athletes, including trochlear dysplasia, patella alta, and axial and coronal plane abnormalities. There is a role for nonoper...
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