Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To determine whether lumbar puncture is necessary in the evaluation of neonates with risk for infection or suspected sepsis in the first 72 hours of life, we reviewed the laboratory and medical records of 506 infants who had lumbar punctures between January 1988 and December 1990. Neonates < 72 hours of age accounted for 52% of all lumbar punctures, but no case of meningitis. This led to a policy shift from routinely performing lumbar punctures to reserving them for infants with signs of severe sepsis (i.e. lethargy, hypothermia, hypotonia, poor perfusion or apnoea), specific neurological signs or clinical deterioration. This new policy was monitored prospectively from July 1991 to December 1993. Three times fewer procedures were performed in neonates < 72 hours, and there was no diagnosed or missed case of meningitis. Given that meningitis is rare within the first 72 hours of life and the yield of lumbar puncture virtually zero, we recommend that lumbar punctures be reserved for selected infants.
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PMID:Evaluation of neonates with risk for infection/suspected sepsis: is routine lumbar puncture necessary in the first 72 hours of life? 949 Nov 9

Vasovagal syncopes are the most common cause of loss of consciousness and if they occur frequently they contribute to the marked decrease of the quality of life and need treatment. One of important problems is the possibility of injury during the syncope. In older patients it can lead to the fractures of extremities, complications of which could be life-threatening. Another problem is the reaction of the surrounding people trying to help the unconscious by keeping him in the vertical position. It promotes hypotonia and could cause damage of organs such as brain or heart. The authors review the current literature on the management of patients with vasovagal syncope. It seems that the conservative approaches preferring patient reassurance and training methods are successful in syncope prevention and help avoid the side effects and complications of pharmacological therapy or pacemaker implantation. These last two methods should be reserved for patients with the most severe symptoms of the disease.
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PMID:[Therapeutic approach to patients with neurocardiogenic syncope]. 1575 44

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH manifestations. GPI anchor protein deficiency is almost always due to somatic mutations in phosphatidylinositol glycan class A (PIGA), a gene involved in the first step of GPI anchor biosynthesis; however, alternative mutations that cause PNH have recently been discovered. In addition, hypomorphic germ-line PIGA mutations that do not cause PNH have been shown to be responsible for a condition known as multiple congenital anomalies-hypotonia-seizures syndrome 2. Eculizumab, a first-in-class monoclonal antibody that inhibits terminal complement, is the treatment of choice for patients with severe manifestations of PNH. Bone marrow transplantation remains the only cure for PNH but should be reserved for patients with suboptimal response to eculizumab.
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PMID:Paroxysmal nocturnal hemoglobinuria. 2523

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity, and molecular modelling was performed for those variants falling within structurally characterized domains of TAF1. A novel phenotypic clustering approach was also applied, in which the phenotypes of affected individuals were classified using 51 standardized Human Phenotype Ontology (HPO) terms. Phenotypes associated with TAF1 variants show considerable pleiotropy and clinical variability, but prominent among previously unreported effects were brain morphological abnormalities, seizures, hearing loss, and heart malformations. Our allelic series broadens the phenotypic spectrum of TAF1/MRXS33 intellectual disability syndrome and the range of TAF1 molecular defects in humans. It also illustrates the challenges for determining the pathogenicity of inherited missense variants, particularly for genes mapping to chromosome X. This article is protected by copyright. All rights reserved.
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PMID:Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. 3228 97

Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein (TRAP) complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pathogenic variants in SSR4 cause a congenital disorder of glycosylation: SSR4-CDG. We describe three SSR4-CDG boys and review the previously reported. All subjects presented with hypotonia, failure to thrive, developmental delay, and dysmorphic traits and showed a type 1 serum sialotransferrin profile, facilitating the diagnosis. Genetic confirmation of this X-linked CDG revealed one de novo hemizygous deletion, one maternally inherited deletion, and one de novo nonsense mutation of SSR4. The present subjects highlight the similarities with a connective tissue disorder (redundant skin, joint laxity, blue sclerae, and vascular tortuosity). The connective tissue problems are relevant, and require preventive rehabilitation measures. As an X-linked disorder, genetic counseling is essential. This article is protected by copyright. All rights reserved.
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PMID:Expanding the phenotype of X-linked SSR4-CDG: connective tissue implications. 3330 Feb 32