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Thermally activated delayed fluorescence materials towards the breakthrough of organoelectronics.

The design and characterization of thermally activated delayed fluorescence (TADF) materials for optoelectronic applications represents an active area of recent research in organoelectronics. Noble metal-free TADF molecules offer unique optical and electronic properties arising from the efficient transition and interconversion between the lowest singlet (S1 ) and triplet (T1 ) excited states. Their ability to harvest triplet excitons for fluorescence through facilitated reverse intersystem crossing (T1 →S1 ) could directly impact their properties and performances, which is attractive for a wid

Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.

The normal von Willebrand factor (vWF) multimer pattern results from the ADAMTS-13 cleavage of the Tyr 1605-Met 1606 bond in the A2 domain o … the Cys2362Phe mutation. Their vWF levels were mildly decreased and vWF multimers were organized in triplets, but also demonstrated abnormally large forms and smearing. Our findings indicate that a proper conformation of the B2 domain, which depends on critical Cys residues, may be required for the normal proteolytic processing of vWF multimers.

Implantation sites after embryo transfer into the central area of the uterine cavity.

A total of 63 pregnancies (47 singleton, 15 twin, 1 triplet) from intracytoplasmic sperm injection cycles were analysed. In all embryo transfers, the catheter was introduced into the endometrial cavity guided by abdominal ultrasound, with the catheter tip placed at the middle point of the endometrial cavity. Gestational sacs (GS) were located 21-24 days after transfer (gestational age=5 weeks) by two-dimensional and three-dimensional transvaginal ultrasound. The uterine cavity was divided into three parts: upper, middle and lower. Furthermore, the upper region was subdivided into right, middle

Sensory neuropathy in X-linked recessive bulbospinal neuronopathy.

X-linked recessive bulbospinal neuronopathy (X-BSN) is an adult-onset spinal and bulbar amyotrophy. Neurophysiologic studies demonstrate subclinical involvement of sensory nerves with diminished or absent sensory nerve action potientials and denervation changes, indicating the involvement of sensory neurons. We report the clinical features, findings of electrophysiologic study, and results of morphometric analysis of sural nerve pathology in a patient with X-BSN. Molecular genetic studies were also performed in the patient and his three daughters. Electrophysiologic studies revealed decreased

[Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease].

INTRODUCTION: The dominant autosomic ataxias are a group of neurodegenerative disorders caused by expansion of a CAG triplet in different genes, found along the genome. The dominant autosomic ataxias present very varied clinical findings. However, genetic studies are being done to establish the genotype-phenotype relationship of the different autosomal dominant ataxias. CLINICAL CASE: A 50 year old man had alterations in gait, dysarthria and visual changes (retinal degeneration). Study of the different genes known to be responsible for the dominant autosomic ataxias have an expansion of the s

[A new mechanism of mutation in man: expansion of trinucleotide repeats].

An analysis of a novel, recently discovered class of mutations in man - an expansion, i.e., an increase of the copy number of intragenic unstable trinucleotide repeats - is presented. The expansion of trinucleotide repeats causes the development of at least seven hereditary diseases which damage the nervous system: the fragile X chromosome syndrome (two separate variants of the disease - FRAXA and FRAXE), myotonic dystrophy, spinal and bulbar Kennedy's amyotrophy, Huntington's chorea, type 1 spinocerebellar ataxia, and dentatorubral-pallidolyusian atrophy. The discovery of triplet expansion al

Exonic deletions of FXN and early-onset Friedreich ataxia.

BACKGROUND: Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene. The remaining patients are compound heterozygous for an expansion and a point mutation. Patients who are compound heterozygous for an exonic deletion and an expansion are exquisitely rare. OBJECTIVES: To describe 6 patients affected with FA due to an exonic deletion mutation (FAexdel) and to compare these 6 patients with FAexdel with 46 patients consecutively diagnosed

Is hemifacial microsomia linked to multiple maternities?

Hemifacial microsomia describes a congenital orofacial malformation in which there is insufficient or disrupted development of the mandible … that whatever the aetiology of hemifacial microsomia and microtia, the presence of a co-twin (or co-triplets) may make the causal event, or series of causal events, more likely to occur. This study supports the hypothesis that hemifacial microsomia and microtia are in some way linked to multiple births. Analysis of this link may provide new directions for …

Polymorphism-dependent room-temperature phosphorescence of a persulfurated benzene.

Persulfurated benzenes are efficient room-temperature phosphorescent materials whose emission strongly depends on solid-state organization. We report two polymorphs (I and II) of A6-iPr exhibiting distinct RTP colors arising from different molecular conformations in the crystal lattice. Quantum chemical calculations reveal how conformation and intermolecular interactions govern the nature of the emissive triplet state.

[Recent advances in Huntington's disease].

Huntington's disease is an autosomal dominant neurodegenerative disease that leads to premature death. The disease is caused by a pathological CAG triplet expansion in the huntingtin gene. The disease is most common in Western populations, with onset in middle age and causing progressive motor, cognitive, and psychiatric symptoms. Currently, only symptomatic treatment is provided, but new molecular technologies may allow treatments reducing levels of mutated huntingtin.

Efficacy and Safety of Quadruplet Therapy in Newly Diagnosed Transplant-Eligible Multiple Myeloma: A Systematic Review and Meta-Analysis.

BACKGROUND: The treatment landscape for multiple myeloma continues to evolve. Recently, the addition of anti-CD38 monoclonal antibodies (mAbs) to the triplet regimen, comprising a proteasome inhibitor, an immunomodulatory agent, and a steroid, for transplant-eligible newly diagnosed multiple myeloma (TENDMM) has shown promising results. AIMS: To evaluate the overall efficacy and safety of quadruplet therapy with an anti-CD38 mAb compared to a triplet regimen. METHODS: A systematic search of Medline, Scopus, and EMBASE databases from inception to July 2024 identified relevant randomized contr

Survival benefit of ixazomib, lenalidomide and dexamethasone (IRD) over lenalidomide and dexamethasone (Rd) in relapsed and refractory multiple myeloma patients in routine clinical practice.

BackgroundWe have performed a head to head comparison of all-oral triplet combination of ixazomib, lenalidomide and dexamethasone (IRD) versus lenalidomide and dexamethasone (RD) in patients with relapsed and refractory multiple myeloma (RRMM) in the routine clinical practice.MethodsA total of 344 patients treated with IRD (N = 127) or RD (N = 217) were selected for analysis from the Czech Registry of Monoclonal Gammopathies (RMG). Descriptive statistics were used to assess patient's characteristics associated with the respective therapy. The primary endpoint was progression free survival (PFS

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… Background The novel triplet IRD (ixazomib, lenalidomide, dexamethasone) has been approved in more than 70 countries for patients with relapsed and refractory multiple myeloma (RRMM) based on the results of several clinical trials including TOURMALINE-MM1 ( NCT01564537 ) [ 1 – 8 ]. … The current standard of care in patients with RRMM include several drug combinations, among which lenalidomide-based triplets have shown the most beneficial results [ 21 ]. …

A case of Huntington's disease with two reduced penetrance alleles.

We present a case of Huntington's Disease (HD) with two reduced penetrance alleles and show that age of onset and motor symptoms are comparable to heterozygous patients with the same number of CAG triplet repeats. We performed a review of the literature on clinical presentation of homozygous HD cases and highlight that, so far, evidence exists that HD is a truly dominant disorder. This has important implications for pathophysiology concepts of the disease.

A novel amber mutation in a beta zero-thalassaemia gene (beta 37TGG-->TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA.

A novel amber mutation, a G to A substitution at the second position of codon 37 in the beta-globin gene that changes the tryptophan coding triplet (TGG) to a termination codon (TAG), was found in a Chinese beta-thalassaemia carrier. The mutant gene creates an additional Dde I recognition site and eliminates the Ava II site, so this point mutation can be directly identified by restriction enzyme analysis.

Impacts of heteroatom substitution on the excited state dynamics of π-extended helicenes.

Benzo-annulated aza[9]helicene ([9]AH) and thia[9]helicene ([9]TH) were prepared as novel π-extended heterohelicenes. [9]TH showed a quite short fluorescence lifetime of ∼0.3 ns and intense phosphorescence at low temperature that were attributed to its larger spin-orbit coupling and faster intersystem crossing between pseudo-degenerate S1/2 and triplet states.

[Delayed delivery. Two cases, and review of the literature].

Delayed deliveries are rarely encountered in multiple pregnancies. They are useful in case of premature fetus. We report two case of delayed delivery; the first one of 23 days in a twin pregnancy, and the second one of 4 days in a triplet pregnancy. In both cases, the first delivered fetus died, and the later one or ones survived. Delayed delivery is a good management practice for multiple pregnancies in case of prematurity if no contraindications exist.

The Role of Charge Transfer and Parity Symmetry of the Wave Function in N,N'-Bis(2-phenylethyl)-3,4,9,10-perylenedicarboximide Crystals: A Frenkel-Holstein Approach.

Charge-transfer (CT) configurations can provide an efficient pathway to the triplet pair (TT) manifold in singlet fission (SF), yet diagnosing CT-mediated TT participation from optical spectra remains challenging because TT signatures are often weak, obscured, or missing. Here, we develop an extended Frenkel-Holstein Hamiltonian that explicitly includes CT and intermolecular TT diabatic states. We show that site-exchange parity controls optical activity. In the Condon limit, only the even (+) sector is bright, and TT borrows oscillator strength only through the parity-matched chain |FE+⟩ →|CT+

The band importance function for the Dutch digits-in-noise test: A computational derivation using human and automatic speech recognition data, including extended high frequencies.

The band importance function (BIF) quantifies the contribution of each frequency band to the intelligibility of speech and is a key element of the speech intelligibility index. The BIF depends on the type of speech material and speaker characteristics. Several BIFs exist, but they do not cover all test materials used in audiology. This study aimed to determine the BIF for the Dutch digits-in-noise (DIN) test, a widely used speech-in-noise measure. Twenty young adults with normal hearing completed a speech recognition task using Dutch DIN triplets presented at multiple signal-to-noise ratios (S…

Rational design of local electric fields: an effective strategy to modulate thermally activated delayed fluorescence in carbene-gold(I)-amide complexes.

Carbene-metal-amide-based thermally activated delayed fluorescence (CMA-TADF) compounds are promising emerging metal-organic materials for OLEDs. However, there is a lack of systematic studies on the influence of external electric fields (EEFs) on the underlying photophysical mechanisms of conformationally distinct CMA complexes. In this work, we employ density functional theory (DFT) and time-dependent DFT (TD-DFT) methods to elucidate how EEFs of specific orientation and magnitude govern the excited-state properties and dynamics of coplanar (CAAC-Au-Ptz-1) versus perpendicular (CAAC-Au-Ptz-2