Fe Site Order and Magnetic Properties of Fe1/4NbS2.

Transition-metal dichalcogenides (TMDs) have long been attractive to researchers for their diverse properties and high degree of tunability. Most recently, interest in magnetically intercalated TMDs has resurged due to their potential applications in spintronic devices. While certain compositions featuring the absence of inversion symmetry such as Fe1/3NbS2 and Cr1/3NbS2 have garnered the most attention, the diverse compositional space afforded through the host matrix composition as well as intercalant identity and concentration is large and remains relatively underexplored. Here, we report the magnetic ground state of Fe1/4NbS2 that was determined from low-temperature neutron powder diffraction as an A-type antiferromagnet. Despite the presence of overall inversion symmetry, the pristine compound manifests spin polarization induced by the antiferromagnetic order at generic k points, based on density functional theory band-structure calculations. Furthermore, by combining synchrotron diffraction, pair distribution function, and magnetic susceptibility measurements, we find that the magnetic properties of Fe1/4NbS2 are sensitive to the Fe site order, which can be tuned via electrochemical lithiation and thermal history.

Chemistry of Quantum Spin Liquids.

Quantum spin liquids are an exciting playground for exotic physical phenomena and emergent many-body quantum states. The realization and discovery of quantum spin liquid candidate materials and associated phenomena lie at the intersection of solid-state chemistry, condensed matter physics, and materials science and engineering. In this review, we provide the current status of the crystal chemistry, synthetic techniques, physical properties, and research methods in the field of quantum spin liquids. We highlight a number of specific quantum spin liquid candidate materials and their structure-property relationships, elucidating their fascinating behavior and connecting it to the intricacies of their structures. Furthermore, we share our thoughts on defects and their inevitable presence in materials, of which quantum spin liquids are no exception, which can complicate the interpretation of characterization of these materials, and urge the community to extend their attention to materials preparation and data analysis, cognizant of the impact of defects. This review was written with the intention of providing guidance on improving the materials design and growth of quantum spin liquids, and to paint a picture of the beauty of the underlying chemistry of this exciting class of materials.

Ln2 (SeO3 )2 (SO4 )(H2 O)2 (Ln=Sm, Dy, Yb): A Mixed-Ligand Pathway to New Lanthanide(III) Multifunctional Materials Featuring Nonlinear Optical and Magnetic Anisotropy Properties.

Bottom-up assembly of optically nonlinear and magnetically anisotropic lanthanide materials involving precisely placed spin carriers and optimized metal-ligand coordination offers a potential route to developing electronic architectures for coherent radiation generation and spin-based technologies, but the chemical design historically has been extremely hard to achieve. To address this, we developed a worthwhile avenue for creating new noncentrosymmetric chiral Ln3+ materials Ln2 (SeO3 )2 (SO4 )(H2 O)2 (Ln=Sm, Dy, Yb) by mixed-ligand design. The materials exhibit phase-matching nonlinear optical responses, elucidating the feasibility of the heteroanionic strategy. Ln2 (SeO3 )2 (SO4 )(H2 O)2 displays paramagnetic property with strong magnetic anisotropy facilitated by large spin-orbit coupling. This study demonstrates a new chemical pathway for creating previously unknown polar chiral magnets with multiple functionalities.

Spin and Orbital Effects on Asymmetric Exchange Interaction in Polar Magnets: M(IO3)2 (M = Cu and Mn).

Magnetic polar materials feature an astonishing range of physical properties, such as magnetoelectric coupling, chiral spin textures, and related new spin topology physics. This is primarily attributable to their lack of space inversion symmetry in conjunction with unpaired electrons, potentially facilitating an asymmetric Dzyaloshinskii-Moriya (DM) exchange interaction supported by spin-orbital and electron-lattice coupling. However, engineering the appropriate ensemble of coupled degrees of freedom necessary for enhanced DM exchange has remained elusive for polar magnets. Here, we study how spin and orbital components influence the capability of promoting the magnetic interaction by studying two magnetic polar materials, α-Cu(IO3)2 (2D) and Mn(IO3)2 (6S), and connecting their electronic and magnetic properties with their structures. The chemically controlled low-temperature synthesis of these complexes resulted in pure polycrystalline samples, providing a viable pathway to prepare bulk forms of transition-metal iodates. Rietveld refinements of the powder synchrotron X-ray diffraction data reveal that these materials exhibit different crystal structures but crystallize in the same polar and chiral P21 space group, giving rise to an electric polarization along the b-axis direction. The presence and absence of an evident phase transition to a possible topologically distinct state observed in α-Cu(IO3)2 and Mn(IO3)2, respectively, imply the important role of spin-orbit coupling. Neutron diffraction experiments reveal helpful insights into the magnetic ground state of these materials. While the long-wavelength incommensurability of α-Cu(IO3)2 is in harmony with sizable asymmetric DM interaction and low dimensionality of the electronic structure, the commensurate stripe AFM ground state of Mn(IO3)2 is attributed to negligible DM exchange and isotropic orbital overlapping. The work demonstrates connections between combined spin and orbital effects, magnetic coupling dimensionality, and DM exchange, providing a worthwhile approach for tuning asymmetric interaction, which promotes evolution of topologically distinct spin phases.

Study of Integer Spin S = 1 in the Polar Magnet ß-Ni(IO3)2.

Polar magnetic materials exhibiting appreciable asymmetric exchange interactions can potentially host new topological states of matter such as vortex-like spin textures; however, realizations have been mostly limited to half-integer spins due to rare numbers of integer spin systems with broken spatial inversion lattice symmetries. Here, we studied the structure and magnetic properties of the S = 1 integer spin polar magnet ß-Ni(IO3)2 (Ni2+, d8, 3F). We synthesized single crystals and bulk polycrystalline samples of ß-Ni(IO3)2 by combining low-temperature chemistry techniques and thermal analysis and characterized its crystal structure and physical properties. Single crystal X-ray and powder X-ray diffraction measurements demonstrated that ß-Ni(IO3)2 crystallizes in the noncentrosymmetric polar monoclinic structure with space group P21. The combination of the macroscopic electric polarization driven by the coalignment of the (IO3)- trigonal pyramids along the b axis and the S = 1 state of the Ni2+ cation was chosen to investigate integer spin and lattice dynamics in magnetism. The effective magnetic moment of Ni2+ was extracted from magnetization measurements to be 3.2(1) µB, confirming the S = 1 integer spin state of Ni2+ with some orbital contribution. ß-Ni(IO3)2 undergoes a magnetic ordering at T = 3 K at a low magnetic field, µ0H = 0.1 T; the phase transition, nevertheless, is suppressed at a higher field, µ0H = 3 T. An anomaly resembling a phase transition is observed at T ≈ 2.7 K in the Cp/T vs. T plot, which is the approximate temperature of the magnetic phase transition of the material, indicating that the transition is magnetically driven. This work offers a useful route for exploring integer spin noncentrosymmetric materials, broadening the phase space of polar magnet candidates, which can harbor new topological spin physics.

Nonpolar-to-Polar Trimerization Transitions in the S = 1 Kagomé Magnet Na2Ti3Cl8.

Kagomé lattice magnets have emerged as a versatile platform on which to discover and explore the underlying physics of quantum-spin liquids and related states of matter, although experimental examples of ideal kagomé lattices remain rare. Here we report that Na2Ti3Cl8 is an ideal realization of an insulating S = 1 kagomé magnet. This material undergoes a discrete two-step trimerization upon cooling, transforming from a centrosymmetric, paramagnetic high-temperature (HT) R3m phase to noncentrosymmetric, polar, and trimerized intermediate- (IT) and low-temperature (LT) R3m phases via two successive first-order phase transitions. Symmetry mode decomposition analysis shows that trimerization requires activation of the proper polar order parameter Γ2- and that this mode becomes active at the HT → IT phase transition. The magnitude of this order parameter approximately doubles at the IT → LT transition, with possible activation of a second polar mode, corresponding to Na2 and Ti3Cl8 displacing layers toward each other, at the IT → LT transition. Specific heat measurements reveal comparable changes in entropy between the LT → IT transition, 18.6(1.0) J (mol of f.u.)-1 K-1, and the IT → LT transition, 16.8(1.0) J (mol of f.u.)-1 K-1, demonstrating loss of the magnetic degrees of freedom and constraining possible models for the magnetic and electronic structures of the IT and LT phases. Thus, Na2Ti3Cl8 demonstrates a novel mechanism to obtain polar structures driven by geometrically frustrated lattices and metal-metal bonding and highlights the rich physics arising from kagomé lattice materials.

(Cs X)Cu5O2(PO4)2 ( X = Cl, Br, I): A Family of Cu2+ S = 1/2 Compounds with Capped-Kagomé Networks Composed of OCu4 Units.

Three new salt inclusion compounds (Cs X)Cu5O2(PO4)2 ( X = Cl, Br, I), phosphate analogues of the kagomé mineral averievite, are reported. Their crystal structures are composed of trigonal networks of corner-sharing OCu4 anion-centered tetrahedra, forming capped-kagomé planes, which can also be regarded as two-dimensional slices along the [111] direction of a pyrochlore lattice. Magnetization and heat capacity measurements reveal strong geometric frustration of this network and complex magnetic behavior. X-ray and neutron diffraction studies show that all three compounds undergo a trigonal-to-monoclinic phase transition upon cooling, with a first-order phase transition seen in CsBr and CsI analogues. Along with the previously reported (CsCl)Cu5O2(VO4)2, these three new compounds belong to a large family of OCu4-based networks, which are a playground for studying frustrated quantum magnetism.

Development of film-forming gel containing nanoparticles for transdermal drug delivery.

Despite several studies on film-forming systems with the advantages of both the film and the hydrogel, there are still no effective systems for fast film formation with a high level of control over permeability. In this study, a film-forming system for the delivery of nanomedicine, termed a film-forming nanogel (FFN), was produced and investigated for the first time to meet this need. The objective of this research was to study a new generation of film-forming hydrogels (FFHs) loaded with curcumin nanoparticles (CUR-GNPs) for transdermal applications. FFHs were prepared by employing zein and HPMC 4000 as film-forming polymers. Meanwhile, CUR-GNPs were obtained by sonoprecipitation. The film-forming time, particle characteristics and FFN drug release profile were assessed. The optimized FFH had a smooth surface and a fast drying time of 6 min and 4.5 min in vitro and ex vivo, respectively. Additionally, high, sustained drug permeation from the FFN was observed after 24 h. The FFH containing CUR-GNPs showed potential for application in transdermal drug delivery with a fast film-forming time, uniform particle dispersion and high, sustained drug permeation.

CLINICAL IMPACT OF NON-INVASIVE FOLLICULAR THYROID NEOPLASM WITH PAPILLARY-LIKE NUCLEAR FEATURES ON THE RISK OF MALIGNANCY IN THE BETHESDA SYSTEM FOR REPORTING THYROID CYTOPATHOLOGY: A META-ANALYSIS OF 14,153 RESECTED THYROID NODULES.

Objective: It is still controversial as to how the reclassification of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) affects the risk of malignancy (ROM) in The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). This meta-analysis was aimed to investigate the impact of NIFTP on the ROM in each TBSRTC category. Methods: We accessed three electronic databases including PubMed, Web of Science, and Scopus to search for relevant data from January, 2016 to July, 2018. Relative risk and meta-analysis of proportions using the DerSimonian-Laird method, and each corresponding 95% confidence interval (CI) was pooled using a random-effect model. Results: A total of 14 studies consisting of 14,153 resected nodules were included for meta-analyses. Overall, there was a significant reduction in ROM in all TBSRTC categories following the NIFTP reclassification, except TBSRTC category I. The largest absolute and relative decrease in ROM was observed in TBSRTC category V (16%; 95% CI = 8 to 24) and category III (32%; 95% CI = 24 to 39), respectively. There was a positive correlation between the rate of NIFTP and resection rate (r = 0.83; P = .02). The decreases in ROM were more prominent in Western than in Asian cohorts. Conclusion: We confirmed the decrease in ROM due to the NIFTP reclassification for most of TBSRTC categories, which was more significant in Western than in Asian practice. The incidence of NIFTP was higher in institutions where surgical resection rates were high in patients with indeterminate cytology nodules. Abbreviations: AUS/FLUS = atypia of undetermined significance/follicular lesion of undetermined significance; CI = confidence interval; FNA = fine-needle aspiration; FN/SFN = follicular neoplasm/suspicious for follicular neoplasm; NIFTP = noninvasive follicular thyroid neoplasm with papillary-like nuclear features; NI-FVPTC = noninvasive follicular variant of papillary thyroid carcinoma; ROM = risk of malignancy; RR = relative risk; SM = suspicious for malignancy; TBSRTC = The Bethesda System for Reporting Thyroid Cytopathology.

pH-independent dissolution enhancement for multiple poorly water-soluble drugs by nano-sized solid dispersions based on hydrophobic-hydrophilic conjugates.

The objective of this study was to achieve an optimal formulation of hydrophilic-hydrophobic conjugates for nano-sized solid dispersions (SDs) with enhanced dissolution of multiple drugs in different gastrointestinal (GI) tract environments. A new conjugate powder with an optimized process was used to fabricate SDs that contained three poorly water-soluble drugs that were also poorly soluble in different dissolution media. The self-assembled nanoparticle formation, drug crystallinity and SD molecular interactions were investigated by measuring the particle size during dissolution testing and physicochemical property analysis (powder X-ray diffraction and Fourier transform infrared spectroscopy). Drug release studies indicated that SD containing conjugated powder significantly improved the dissolution rates of these poorly water-soluble drugs in the GI tract. In addition, particle size analysis showed nano-sized particles in the dissolution media in the early stage with a tendency to reduce smaller particles over time. Physicochemical characterizations demonstrated almost amorphous drug states and hydrogen bonding interactions between the drugs and conjugates in the SD. This study optimized a promising material for SD, and the material was shown to have a promising performance under various pH medium conditions with poorly water-soluble drugs.

Development of solid dispersion lipid nanoparticles for improving skin delivery.

Applications of poorly water-soluble drugs in skin delivery pose several challenges to pharmaceutical formulation. This research originally developed solid lipid nanoparticles (SLNs) packaging a modified core of a solid dispersion (SD) in the lipid matrix to modulate the skin release patterns. Curcumin (CUR) was selected as the poorly water-soluble drug applied in the formulation. The designed system, so-called solid dispersion lipid nanoparticles (SD-SLNs), was fabricated by incorporating a solidifying SD or a non-solidifying SD into the core of the SLNs by ultrasonication. Release studies illustrated an important enhancement in the drug release of the proposed system compared to pure CUR and SLN formulations without the presence of SD as the modified core, which indicated the positive effect of the combined colloidal method of SD and SLNs. The physicochemical properties of the SD-SLN systems were also elucidated using powder X-ray diffraction, Fourier transform infrared spectroscopy, and particle size analysis. The drug was found to change to an amorphous state without any molecular interactions along with a marked particle size reduction. This work demonstrated the strong potential of applying a novel SD-SLN system for the skin delivery of a drug with poor water solubility.

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family. The variant caused a prenatal/perinatal lethal OI in homozygotes, similar to that seen in OI type II as a result of mutations in type I collagen genes, and a mild phenotype (fractures, blue sclerae) in multiple heterozygous family members. CREB3L1 encodes old astrocyte specifically induced substance (OASIS), an endoplasmic reticulum stress transducer. The variant disrupts a DNA-binding site and prevents OASIS from acting on its transcriptional targets including SEC24D, which encodes a component of the coat protein II complex.ConclusionThis report confirms that CREB3L1 is an OI-related gene and suggests the pathogenic mechanism of CREB3L1-associated OI involves the altered regulation of proteins involved in cellular secretion.

Noninvasive iPhone Measurement of Left Ventricular Ejection Fraction Using Intrinsic Frequency Methodology.

OBJECTIVE: The study is based on previously reported mathematical analysis of arterial waveform that extracts hidden oscillations in the waveform that we called intrinsic frequencies. The goal of this clinical study was to compare the accuracy of left ventricular ejection fraction derived from intrinsic frequencies noninvasively versus left ventricular ejection fraction obtained with cardiac MRI, the most accurate method for left ventricular ejection fraction measurement. DESIGN: After informed consent, in one visit, subjects underwent cardiac MRI examination and noninvasive capture of a carotid waveform using an iPhone camera (The waveform is captured using a custom app that constructs the waveform from skin displacement images during the cardiac cycle.). The waveform was analyzed using intrinsic frequency algorithm. SETTING: Outpatient MRI facility. SUBJECTS: Adults able to undergo MRI were referred by local physicians or self-referred in response to local advertisement and included patients with heart failure with reduced ejection fraction diagnosed by a cardiologist. INTERVENTIONS: Standard cardiac MRI sequences were used, with periodic breath holding for image stabilization. To minimize motion artifact, the iPhone camera was held in a cradle over the carotid artery during iPhone measurements. MEASUREMENTS AND MAIN RESULTS: Regardless of neck morphology, carotid waveforms were captured in all subjects, within seconds to minutes. Seventy-two patients were studied, ranging in age from 20 to 92 years old. The main endpoint of analysis was left ventricular ejection fraction; overall, the correlation between ejection fraction-iPhone and ejection fraction-MRI was 0.74 (r = 0.74; p < 0.0001; ejection fraction-MRI = 0.93 × [ejection fraction-iPhone] + 1.9). CONCLUSIONS: Analysis of carotid waveforms using intrinsic frequency methods can be used to document left ventricular ejection fraction with accuracy comparable with that of MRI. The measurements require no training to perform or interpret, no calibration, and can be repeated at the bedside to generate almost continuous analysis of left ventricular ejection fraction without arterial cannulation.

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2, which encode the chains of type I procollagen, result in dominant forms of OI, and mutations in several other genes result in recessive forms of OI. Here, we describe four recessive-OI-affected families in which we identified causative mutations in wingless-type MMTV integration site family 1 (WNT1). In family 1, we identified a homozygous missense mutation by exome sequencing. In family 2, we identified a homozygous nonsense mutation predicted to produce truncated WNT1. In family 3, we found a nonsense mutation and a single-nucleotide duplication on different alleles, and in family 4, we found a homozygous 14 bp deletion. The mutations in families 3 and 4 are predicted to result in nonsense-mediated mRNA decay and the absence of WNT1. WNT1 is a secreted signaling protein that binds the frizzled receptor (FZD) and the coreceptor low-density lipoprotein-receptor-related protein 5 (LRP5). Biallelic loss-of-function mutations in LRP5 result in recessive osteoporosis-pseudoglioma syndrome with low bone mass, whereas heterozygous gain-of-function mutations result in van Buchem disease with elevated bone density. Biallelic loss-of-function mutations in WNT1 result in a recessive clinical picture that includes bone fragility with a moderately severe and progressive presentation that is not easily distinguished from dominant OI type III.

Impact of fasting on human brain acid-base homeostasis using natural abundance (13) C and (31) P MRS.

PURPOSE: To use (13) C magnetic resonance spectroscopy (MRS) and (31) P MRS to develop a direct assay for regional [HCO3-] in the human brain and to define brain pH and physiological response of [HCO3-] to fasting. MATERIALS AND METHODS: Seven healthy subjects underwent MRS examinations on a 1.5T MRI scanner. Subjects were well fed with repeated examinations performed after 4 and 12 hours of fasting. Proton noise decoupling (13) C MRS were acquired using pulse and acquired acquisition while (31) P MRS were acquired using a 2D chemical shift imaging method with relaxation time (TR) of 2 seconds. RESULTS: Fasting brain bicarbonate concentrations (6.7 ± 2.5 mM for 12-hour fasting, P = 0.002 and 8.3 ± 2.1 mM for 4-hour fasting, P = 0.015) are significantly reduced compared to fed state (11.6 ± 1.3 mM). However, no significant difference in brain pH was observed, confirming the critical role of pCO2 in intracerebral pH homeostasis. CONCLUSION: We demonstrated that the intracellular HCO3- in human brain is readily modified by diet but appears to have no measurable effect on cerebral pH. Natural abundance (13) C can provide useful information relevant to human brain pH homeostasis by providing information for HCO3-.

Noncentrosymmetric Triangular Magnet CaMnTeO6: Strong Quantum Fluctuations and Role of s0 versus s2 Electronic States in Competing Exchange Interactions.

Noncentrosymmetric triangular magnets offer a unique platform for realizing strong quantum fluctuations. However, designing these quantum materials remains an open challenge attributable to a knowledge gap in the tunability of competing exchange interactions at the atomic level. Here, a new noncentrosymmetric triangular S = 3/2 magnet CaMnTeO6 is created based on careful chemical and physical considerations. The model material displays competing magnetic interactions and features nonlinear optical responses with the capability of generating coherent photons. The incommensurate magnetic ground state of CaMnTeO6 with an unusually large spin rotation angle of 127°(1) indicates that the anisotropic interlayer exchange is strong and competing with the isotropic interlayer Heisenberg interaction. The moment of 1.39(1) µB, extracted from low-temperature heat capacity and neutron diffraction measurements, is only 46% of the expected value of the static moment 3 µB. This reduction indicates the presence of strong quantum fluctuations in the half-integer spin S = 3/2 CaMnTeO6 magnet, which is rare. By comparing the spin-polarized band structure, chemical bonding, and physical properties of AMnTeO6 (A = Ca, Sr, Pb), how quantum-chemical interpretation can illuminate insights into the fundamentals of magnetic exchange interactions, providing a powerful tool for modulating spin dynamics with atomically precise control is demonstrated.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Objectives: Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. Methods: We applied short-read and full-length isoform cDNA sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis. Results: We identified an intronic homozygous MFN2 c.600-31T>G variant that disrupts a branch point critical for intron 6 spicing. Full-length long-read isoform cDNA sequencing after treatment with a nonsense-mediated mRNA decay (NMD) inhibitor revealed that this variant creates five distinct altered splicing transcripts. All five altered splicing transcripts have disrupted open reading frames and are subject to NMD. Furthermore, a patient-derived fibroblast line demonstrated abnormal lipid droplet formation, consistent with MFN2 dysfunction. Although correctly spliced full-length MFN2 transcripts are still produced, this branch point variant results in deficient MFN2 protein levels and autosomal recessive Charcot-Marie-Tooth disease, axonal, type 2A (CMT2A). Discussion: This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

Objectives: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. Methods: We applied short-read and full-length transcript sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis. Results: We identified an intronic homozygous MFN2 c.600-31T>G variant that disrupts the branch point critical for intron 6 splicing. Full-length long-read isoform complementary DNA (cDNA) sequencing after treatment with a nonsense-mediated mRNA decay (NMD) inhibitor revealed that this variant creates 5 distinct altered splicing transcripts. All 5 altered splicing transcripts have disrupted open reading frames and are subject to NMD. Furthermore, a patient-derived fibroblast line demonstrated abnormal lipid droplet formation, consistent with MFN2 dysfunction. Although correctly spliced full-length MFN2 transcripts are still produced, this branch point variant results in deficient MFN2 levels and autosomal recessive Charcot-Marie-Tooth disease, axonal, type 2A (CMT2A). Discussion: This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.

Single-Ion Behavior in New 2-D and 3-D Gadolinium 4f7 Materials: CsGd(SO4)2 and Cs[Gd(H2O)3(SO4)2]·H2O.

The recent creation of 4f7 gadolinium materials has enabled vital studies of the free-ion properties of the Gd(III) cations. While the 8 S ground state in a trivalent Gd compound is, in principle, isotropic, it has been demonstrated that there is a residual orbital angular momentum affected by the crystal field and structural distortion in certain systems. By exploiting the atomistic control innate to material growth, we address a fundamental question of how the isotropic nature of Gd(III) is preserved in different dimensionalities of crystal structures. To achieve this, we designed two new trivalent Gd materials possessing two structurally distinct features, a 2-D CsGd(SO4)2 and a 3-D Cs[Gd(H2O)3(SO4)2]·H2O. The tunability of the structural dimension is facilitated by O-H---O hydrogen bonds. The structural divergence between the two compounds allows us to investigate each material individually and make a comparison between them regarding their physical properties as a function of lattice dimension. Our results demonstrate that structural dimensions have a negligible effect on the single-ion behavior of the materials. Magnetization measurements for the Gd(III) complexes yielded paramagnetic states with the isotropic spin-only nature. Specific heat data suggest that there is a lack of magnetic phase transition down to T = 1.8 K, and coupled lattice vibrations in the materials are attributable to strong covalent bonding characters of the (SO4)2- and H2O ligands. This work offers a pathway for retaining the single-ion property of Gd(III) while constructing the large spin magnetic moment S = 7/2 in large-scale extended frameworks.