ABSTRACT
Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia. Whole-genome sequencing identified a heterozygous NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) mutation in guanine nucleotide-binding protein beta 1 (GNB1) gene. Considering this case and previous studies, genetic testing for the etiology of dyskinetic CP is recommended for children without relevant or with nonspecific brain lesions.
ABSTRACT
A combination of O3S2-macrocycles incorporating different sulfur-to-sulfur separations (S-(CH2)n-S, L1: n = 2, L2: n = 3) and copper(ii) nitrate afforded new types of both monocopper(ii) and dicopper(ii) complexes, respectively. L1 gave a 1D coordination polymer [Cu2(L1)2(NO3)4]n (1) based on a convergent exo-coordination mode while L2 resulted in the formation of a divergent exo/exo-coordinated dicopper(ii) complex, [Cu2(L2ox)4(µ-Cl)](NO3)4 (2), whose shape resembles a four-bladed waterwheel in which in situ oxidized macrocycles (L2ox) act as the blades and a CuII-(µ-Cl)-CuII entity corresponds to the axle shaft. The chloro-bridging ligand is derived from the dichloromethane solvent and its arrangement is held together by C-HCl- H-bonds. Compound 2 shows a weak antiferromagnetic property via the CuII-(µ-Cl)-CuII entity.
