Matches in SemOpenAlex for { <https://semopenalex.org/work/W2980503271> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2980503271 abstract "The 6 day old girl was born at the gestational age of 37 weeks, from the 6th pregnancy, 3rd urgent delivery; her mother’s age was 37 years. The first child was born in 2002 and died at the age of 3 months, the second child was born in 2004, died at the age of 6 months, the 3rd pregnancy in 2008 resulted in antenatal fetal death at the gestational age of 22 weeks, the 4th and the 5th pregnancies were medically interrupted at early stages on request of the family. Convulsive syndrome was observed in 2 eldest children, usage of the valproic acid drugs as an anticonvulsant therapy was ineffective. The fetus ultrasound performed during the 6th pregnancy showed multiple echo markers of visceromegaly and other abnormalities. The patient’s mother was consulted by geneticist; invasive prenatal diagnostical procedures were carried out. Phenotypically, the girl is similar to the previous children: macrosomia; low foreheaded skull, supraorbital arc; face - hypertelorism, saddle nose, macrognathia, macroglossia; ears are deformed; hands - flexion contracture of the fingers, feet - placing the fingers on each other; frog belly, diastasis of recti; genital hypoplasia. From the first days of life the child has convulsive syndrome, with an increase in dynamics. Eye phenomena prevailed, head dropping backwards, anxiety expressed. On 8 day of life phenobarbital was prescribed. While receiving phenobarbital, the intensity of convulsions somewhat decreased, however, it was not possible to achieve complete relief from both the clinical picture and the EEG data. The treatment included the drug Levetiracetam (Keppra), the dose increased to 40 mg/kg/day. Against this background, convulsive episodes remain. Homozygous c.1463G> T p.Cys488Phe mutation was detected in the PIGW gene (NM_178517.3) on chromosome 17q12, which encodes the synthesis of glycosylphosphatidyl inositol. This mutation is absent in population databases (EXAC, GNOMAD, GENOMED), but several computer algorithms predict its potential pathogenicity. In our patient, alkaline phosphatase activity remained within the normal range. It’s described in literature that clinical manifestations similar to our patient. Thus, one of the possible causes of intractable convulsive syndrome, accompanied by characteristic phenotypic signs and, not always, high alkaline phosphatase activity, should be sought in the group of diseases caused by the biosynthesis glycosylphosphatidylinositol disease. Hopefully, over time, specific therapy will appear for these patients." @default.
- W2980503271 created "2019-10-25" @default.
- W2980503271 creator A5017192683 @default.
- W2980503271 creator A5051944792 @default.
- W2980503271 creator A5054768056 @default.
- W2980503271 creator A5055926274 @default.
- W2980503271 creator A5080921737 @default.
- W2980503271 date "2019-06-01" @default.
- W2980503271 modified "2023-09-27" @default.
- W2980503271 title "P481 Clinical case of the new mutation in PIGW gene without hyperphosphatasemia" @default.
- W2980503271 doi "https://doi.org/10.1136/archdischild-2019-epa.817" @default.
- W2980503271 hasPublicationYear "2019" @default.
- W2980503271 type Work @default.
- W2980503271 sameAs 2980503271 @default.
- W2980503271 citedByCount "0" @default.
- W2980503271 crossrefType "proceedings-article" @default.
- W2980503271 hasAuthorship W2980503271A5017192683 @default.
- W2980503271 hasAuthorship W2980503271A5051944792 @default.
- W2980503271 hasAuthorship W2980503271A5054768056 @default.
- W2980503271 hasAuthorship W2980503271A5055926274 @default.
- W2980503271 hasAuthorship W2980503271A5080921737 @default.
- W2980503271 hasBestOaLocation W29805032711 @default.
- W2980503271 hasConcept C105702510 @default.
- W2980503271 hasConcept C118552586 @default.
- W2980503271 hasConcept C141071460 @default.
- W2980503271 hasConcept C142724271 @default.
- W2980503271 hasConcept C187212893 @default.
- W2980503271 hasConcept C2777683783 @default.
- W2980503271 hasConcept C2778186239 @default.
- W2980503271 hasConcept C2778337148 @default.
- W2980503271 hasConcept C2778487983 @default.
- W2980503271 hasConcept C2779234561 @default.
- W2980503271 hasConcept C2779286207 @default.
- W2980503271 hasConcept C2779744641 @default.
- W2980503271 hasConcept C54355233 @default.
- W2980503271 hasConcept C71924100 @default.
- W2980503271 hasConcept C86803240 @default.
- W2980503271 hasConceptScore W2980503271C105702510 @default.
- W2980503271 hasConceptScore W2980503271C118552586 @default.
- W2980503271 hasConceptScore W2980503271C141071460 @default.
- W2980503271 hasConceptScore W2980503271C142724271 @default.
- W2980503271 hasConceptScore W2980503271C187212893 @default.
- W2980503271 hasConceptScore W2980503271C2777683783 @default.
- W2980503271 hasConceptScore W2980503271C2778186239 @default.
- W2980503271 hasConceptScore W2980503271C2778337148 @default.
- W2980503271 hasConceptScore W2980503271C2778487983 @default.
- W2980503271 hasConceptScore W2980503271C2779234561 @default.
- W2980503271 hasConceptScore W2980503271C2779286207 @default.
- W2980503271 hasConceptScore W2980503271C2779744641 @default.
- W2980503271 hasConceptScore W2980503271C54355233 @default.
- W2980503271 hasConceptScore W2980503271C71924100 @default.
- W2980503271 hasConceptScore W2980503271C86803240 @default.
- W2980503271 hasLocation W29805032711 @default.
- W2980503271 hasOpenAccess W2980503271 @default.
- W2980503271 hasPrimaryLocation W29805032711 @default.
- W2980503271 hasRelatedWork W1867544367 @default.
- W2980503271 hasRelatedWork W1969722258 @default.
- W2980503271 hasRelatedWork W1979844409 @default.
- W2980503271 hasRelatedWork W2002284883 @default.
- W2980503271 hasRelatedWork W2015203711 @default.
- W2980503271 hasRelatedWork W2017846138 @default.
- W2980503271 hasRelatedWork W2070690266 @default.
- W2980503271 hasRelatedWork W2075852460 @default.
- W2980503271 hasRelatedWork W2079405603 @default.
- W2980503271 hasRelatedWork W2124414697 @default.
- W2980503271 hasRelatedWork W2189106570 @default.
- W2980503271 hasRelatedWork W2297658728 @default.
- W2980503271 hasRelatedWork W2322365643 @default.
- W2980503271 hasRelatedWork W2330933863 @default.
- W2980503271 hasRelatedWork W2402180559 @default.
- W2980503271 hasRelatedWork W2405470435 @default.
- W2980503271 hasRelatedWork W2417053738 @default.
- W2980503271 hasRelatedWork W2462073888 @default.
- W2980503271 hasRelatedWork W2532538290 @default.
- W2980503271 hasRelatedWork W2737930567 @default.
- W2980503271 isParatext "false" @default.
- W2980503271 isRetracted "false" @default.
- W2980503271 magId "2980503271" @default.
- W2980503271 workType "article" @default.