Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted a retrospective study of families evaluated over the last 6 years at our centre to identify families with MGVs and MGDs.

Spectrum of Movement Disorders and Correlation with Functional Status in Children with Cerebral Palsy.

Objectives: To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status.

Methods: In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS).

Pressure induced separation of phase-transition-triggered-abrupt vs. gradual components of spin crossover.

The application of pressure on [Co(II)(dpzca)2], which at ambient pressure undergoes abrupt spin crossover (SCO) with thermal hysteresis, gives unique insights into SCO. It reversibly separates the crystallographic phase transition (I41/a↔P21/c) and associated abrupt SCO from the underlying gradual SCO, as shown by detailed room temperature (RT) X-ray crystallography and temperature dependent magnetic susceptibility studies, both under a range of 10 different pressures. The pressure effects are shown to be reversible.

Reversible switching of a cobalt complex by thermal, pressure, and electrochemical stimuli: abrupt, complete, hysteretic spin crossover.

Triply switchable [Co(II)(dpzca)(2)] shows an abrupt, reversible, and hysteretic spin crossover (T(1/2)↓ = 168 K, T(1/2)↑ = 179 K, and ΔT(1/2) = 11 K) between the high-spin (HS) and low-spin (LS) states of cobalt(II), both of which have been structurally characterized. The spin transition is also reversibly triggered by pressure changes. Moreover, in a third reversible switching mechanism for this complex, the magnetic properties can be switched between HS cobalt(II) and LS cobalt(III) by redox.