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This study presents a case of a girl of three year and 4 month old with ataxia and severe sensorineural hearing loss for 2 years. In order to improve hearing, she was hospitalized in the PUMC Hospital. Genetic testing performed found compound heterozygous variants of c.1186C > T(p.P396S) and c.1357C > T(p.R453W) in TWNK gene. After a multidisciplinary discussion of the case, the team suspected mitochondrial DNA depletion syndrome type 7(hepatocerebral type). The patient has shown nervous system impairment involvement but no evidence of liver dysfunction. The efficacy of cochlear implantation is uncertain and general anesthesia if applied will accelerate the progress of encephalopathy and might lead to multiple organ failure. Unsure of the perioperative safety, the parents of the girl did not chose the option of hearing intervention temporarily, but chose oral symptomatic supportive treatment with coenzyme Q10, folate, levocarnitine, and complex vitamins as recommended.

Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare Mohr-Tranebjaerg syndrome. Methods We collected the clinical data of the family, did the whole exome sequencing on the proband Ⅲ6 with a rare mutation, and verified the mutation in another affected family member Ⅲ5 and unaffected members Ⅰ1, Ⅰ2, Ⅱ1, Ⅱ5, Ⅱ7, Ⅱ8, Ⅲ7. Results The patients in the family all showed early-onset deafness. More than a couple of affected male members have dystonia with/without mental disorders. Genetic testing results showed the proband Ⅲ6 had a c.133-2delA in TIMM8A (NM_ 004085.3, DDP1), highly likely pathogenic(LP). This variation was detected in affected Ⅲ5 as well as the unaffected females Ⅰ1, Ⅱ5, Ⅱ7. Conclusions MTS caused by the rare TIMM8A mutation, the molecular etiology of the family with this rare disease, is highly consistent with the clinical manifestations and segregation. Other than the deafness, other symptoms varied among the affected family members. Genetic diagnosis for such X-linked diseases can also identify female heterozygotes. Genetic and reproduction counseling can help families in the family planning.

The amount of As(III) adsorbed and the interfacial process are closely associated with the phase transformation of Schwertmannite (SCH). At present, studies on the adsorption characteristics of As(III) on SCH and the accompanying phase transformation process, especially the related mechanisms under the mediation of iron-reducing bacteria (FeRB) and sulfate-reducing bacteria (SRB), are limited in existing literature. With the help of continuous characterization, the adsorption behavior of As(III) on SCH was explored, as well as the transformation processes of SCH during these processes. The findings revealed that the SCH, synthesized by the KMnO4 oxidation and ethanol modification methods, exhibited excellent physical adsorption capacity for As(III) due to their increasing specific surface area and porosity. At room temperature (20°C), the saturation adsorption capacities of As(III) by M-SCH and Y-SCH reached 62.69 and 58.62 mg/g, respectively. Moreover, the generation and phase transformation of As(III)-bearing ferrihydrite were observed within a 60-min timeframe. It is the first time this phenomenon has been observed in such a short time, which is presumed to be an intermediate stage in the transformation of SCH into goethite. Furthermore, both FeRB and SRB could enhance the adsorption capacity of SCH for As(III). Comparatively, SRB has a more substantial impact on SCH's phase transformation. These insights are valuable for the practical application of SCH in treating As(III) pollution. [ABSTRACT FROM AUTHOR]

We investigated the magnon hybridization behavior in FeNi films, which were deposited on the yttrium-iron garnet (YIG) films by using Brillouin light scattering. Nonreciprocal magnon hybridizations have been detected not only on the mode densities but also the dispersion relations. The perpendicular standing spin wave mode confined in the thickness direction hybridized with the top surface magnetostatic surface spin wave at smaller wave vectors range while hybridized with the bottom surface mode at larger wave vectors range. The dipolar interaction between the FeNi layer and the YIG layer should be the main reason for the nonreciprocal hybridization of the two modes in the FeNi layer. The nonreciprocal hybridization characteristics of FeNi/YIG double-layer magnetic films enrich the nonreciprocal magnon hybridization system and might have potential application in constructing spin wave-based devices. [ABSTRACT FROM AUTHOR]