Complications in 322 percutaneous subclavian vein catheters placed in 272 children by the infraclavicular approach were investigated prospectively. Ages ranged from 4 days to 15 years. Incidents during catheter introduction occurred in 13 cases, and were more common when insertion was on the right side (p less than 0.01). Nine (2.8%) required urgent treatment: (6 pneumothorax, 1 hydrothorax, and 2 hemothorax). Anomalous lodging of the catheter tip was more common when insertion was on the right side (p less than 0.05). Complications during catheter maintenance were 3 venous thromboses, 3 catheter obstructions, and 7 migrations out of position. There was no significant difference in complications related to age. Catheter cultures were positive in 33 (17%) of 190 catheters cultured (27 through colonization and 6 through catheter-related sepsis). Staph. epidermidis was the organism most frequently isolated (19 cases; 58%). Catheterization time of more than 5 days and catheter-related sepsis were statistically associated (p less than 0.05). Staph. epidermidis isolation and duration of cannula use were statistically related (p less than 0.01). No catheter-related deaths occurred. We conclude that subclavian vein catheterization is a simple and useful procedure that entails relatively few serious complications when performed by experienced pediatricians.
<b><i>Background:</i></b> LZTR1 participates in RAS protein degradation, hence limiting the RAS/MAPK cascade. Pathogenic mutations in <i>LZTR1</i> (MIM:600574) have been described in a few patients with Noonan syndrome (NS). Three patients with <i>LZTR1</i> mutations of different genetic transmission and NS phenotype are herein characterized. <b><i>Clinical Cases:</i></b> Case 1 is a 5-year-old boy with NS phenotype. Sanger sequencing of <i>PTPN11</i> and <i>SOS1</i> identified no mutations. Whole exome sequencing (WES) detected a heterozygous missense mutation in <i>LZTR1</i>:c.742G>A (p.Gly248Arg) (exon 8, Kelch 4 functional domain). Bioinformatic algorithms predict a deleterious effect of this variant, previously described to cause NS. Case 2 is a 4-year-old boy with NS phenotype. Direct sequencing of 8 genes associated with NS identified no mutations. WES localized a homozygous missense mutation in <i>LZTR1</i>:c.2074T>C (p.Phe692Leu, exon 18). This mutation has not been reported before and is predicted to have a deleterious effect on the protein. Case 3 is an 8-year-old boy who shares NS phenotype with his mother. A multigene panel for RASopathies showed a heterozygous missense variant in <i>LZTR1</i>:c.730T>C (p.Ser244Pro) (exon 8; Kelch 4 functional domain) that was maternally inherited. This variant has not been previously described; however, in silico predictors classify it as deleterious. Familial segregation suggests its pathogenicity. <b><i>Conclusions:</i></b> The molecular approach for syndromic phenotypes associated with various genes should involve complete/updated panels or WES rather than gene-by-gene sequencing. RASopathy genetic panels should incorporate <i>LZTR1</i>. Patients with pathogenic mutations in <i>LZTR1</i> exhibit a characteristic NS gestalt but variable cardiac, height, and neurodevelopment expressions, with recessive inheritance possibly associating with a more severe phenotype.
<b><i>Introduction:</i></b> Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. Biallelic loss of function variants in the <i>PLK4</i> gene<i>,</i> which encodes the polo-like kinase 4 protein involved in centriole biogenesis, has been recently identified in several patients with MCPH and various ethnic backgrounds. <b><i>Case Presentation:</i></b> Here, we describe 2 siblings of different sex from Equatorial Guinea harboring a homozygous frameshift mutation in <i>PLK4</i> (c.1299_1303del, p.Phe433Leufs*6). A Seckel syndrome spectrum phenotype was present in both siblings, with short stature, severe MCPH, reduced brain volume, and distinctive facial features. They also presented severe intellectual disability, lissencephaly/pachygyria, subependymal heterotopia, and ophthalmological impairment. One of them suffered from deafness, and scoliosis was observed in the other. <b><i>Discussion/Conclusion:</i></b> Biallelic variants in <i>PLK4</i> lead to a syndrome where severe short stature, MCPH, and cognitive impairment are constant features. However, ocular, skeletal, and other neurological manifestations can vary upon the same genetic basis.
After 6 years of Growth Hormone (GH) therapy, three patients with a defect in minor spliceosome mRNA processing leading to an incompletely understood GH deficit present with excellent auxological response and improvement in the bone mineral density and trabecular bone structure.
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