Khdir H. Hamad, Sadraldin A. Braim, Dyari Q. Hamad, Araz Q. Abdalla, Maria A. Rasool, Galawezh R. Hamad, Karukh K. Mohammed, Barham H. Bapir and 2 more
Introduction Pilarowski–Bjornsson syndrome (PILBOS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous variants in chromodomain helicase DNA-binding protein 1 (CHD1), a gene encoding an adenosine triphosphate (ATP)-dependent chromatin remodeler. Since its initial description in 2018, only…
Pilarowski–Bjornsson Syndrome with Congenital Heart Defect: A Case Report and Literature Review
Khdir H. Hamad, Sadraldin A. Braim, Dyari Q. Hamad, Araz Q. Abdalla, Maria A. Rasool, Galawezh R. Hamad, Karukh K. Mohammed, Barham H. Bapir and 2 more
IntroductionPilarowski–Bjornsson syndrome (PILBOS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous variants in chromodomain helicase DNA-binding protein 1 (CHD1), a gene encoding an adenosine triphosphate (ATP)-dependent chromatin remodeler. Since its initial description in 2018, only a limited number of cases have been reported in the literature.
Case PresentationA 4-month-old male infant presented with persistent hypotonia and recurrent focal seizures beginning in the neonatal period, accompanied by severe global developmental delay. Brain magnetic resonance imaging (MRI) was structurally normal. Whole exome sequencing identified a heterozygous de novo CHD1 variant (NM_001270.4: c.797C>T; p.Pro266Leu), classified as a variant of uncertain significance. Echocardiography revealed a medium-sized secundum atrial septal defect with right-sided chamber dilatation. The clinical course was complicated by recurrent lower respiratory tract infections and progressive respiratory distress.
Literature ReviewReview of eight previously reported cases confirms global developmental delay and hypotonia as universal features of PILBOS (8/8, 100%). Dysmorphic craniofacial findings were present in 7/8 (87.5%) cases, and seizures occurred in 3/8 (37.5%). Intellectual disability was confirmed in 3/8 (37.5%) and not assessable in a further 3/8 (37.5%). Respiratory complications were documented in 1/8 (12.5%) cases. De novo inheritance was confirmed in 4/8 (50%) cases. No structural cardiac defects have been documented in any previously reported case, and all 8/8 (100%) patients were alive at last follow-up.
ConclusionFindings from this case suggest that structural congenital heart defects may represent an underrecognized component of the PILBOS phenotypic spectrum. Further case reports and functional investigations are required to establish whether cardiac involvement constitutes a consistent feature of CHD1-related disease.
Berun A. Abdalla, Meer M. Abdulkarim, Shvan H. Mohammed, Rewas Ali Azeez, Talar Sabir Hameed, Nigar Hassan Mohammed, Rawezh Q. Salih, Dahat A. Hussein and 6 more
Introduction Human immunodeficiency virus (HIV) and Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV2) surface glycoproteins, including shared epitope motifs, show similarities. This may lead to false-positive HIV results due to cross-reactivity between the two viruses. This study presents a systematic review…
The Hidden Problem of Cross-Reactivity: Challenges in HIV Testing During the COVID-19 Era: A Systematic Review
Berun A. Abdalla, Meer M. Abdulkarim, Shvan H. Mohammed, Rewas Ali Azeez, Talar Sabir Hameed, Nigar Hassan Mohammed, Rawezh Q. Salih, Dahat A. Hussein and 6 more
IntroductionHuman immunodeficiency virus (HIV) and Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV2) surface glycoproteins, including shared epitope motifs, show similarities. This may lead to false-positive HIV results due to cross-reactivity between the two viruses. This study presents a systematic review of the published studies on their cross-reactivity.
MethodsA systematic review of the published studies of HIV and SARS-CoV2 cross-reactivity was conducted, the studies that met the following criteria were included: 1) Studies in the English language. 2) Studies in which the title included the required keywords. 3) Studies in which false positive results were achieved and confirmed. 4) Studies investigating the possibility of cross-reactivity between HIV and SARS-CoV2.
ResultsA total of 11 studies and 466,140 patients were analyzed. Of the specified sexes, 363,786 (82.1%) of the participants were males. A total of 707 false-positive HIV results were recorded, of which 122 (17.3%) had detectable Coronavirus disease 2019 (COVID-19) antibodies. The remaining 585 (82.7%) false positives were either healthy patients or patients recovered from COVID-19 with no detectable COVID-19 antibodies. Twenty-five distinct tests were used as initial and confirmatory tests for both COVID-19 and HIV. Six (24%) unique fourth-generation HIV antigen/antibody combination tests, six (24%) HIV-specific molecular tests, and four (16%) HIV immunoassays were used.
ConclusionCOVID-19 should be considered a potential cause of false-positive results in HIV tests, due to the cross-reactivity between the antibodies or antigens from both viruses.
