Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.

BACKGROUND: Gitelman syndrome (GS) is a rare inherited autosomal recessive tubulopathy, characterized clinically by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis, and is caused by an inactivating mutation in SLC12A3. GS is prone to misdiagnosis when occurring simultaneously with hyperthyroidism. It is important to consider the possibility of other diseases when hyperthyroidism is combined with hypokalemia, which is difficult to correct. CASE SUMMARY: A female patient with hyperthyroidism complicated with limb weakness was diagnosed with thyrotoxic hypokalemic periodic paralysis for 4 mo. However, the patient's serum potassium level remained low despite sufficient potassium replacement and remission of hyperthyroidism. GS was confirmed by whole exome and Sanger sequencing. Gene sequencing revealed compound heterozygous mutations of c.488C>T (p.Thr163Met), c.2612G>A (p.Arg871His), and c.1171_1178dupGCCACCAT (p.Ile393fs) in SLC12A3. Protein molecular modeling was performed to predict the effects of the identified missense mutations. All three mutations cause changes in protein structure and may result in abnormal protein function. All previously reported cases of GS coexisting with autoimmune thyroid disease are reviewed. CONCLUSION: We have identified a novel compound heterozygous mutation in SLC12A3. The present study provides new genetic evidence for GS.

Demonstrating Quantum Coherence and Metrology that is Resilient to Transversal Noise.

Quantum systems can be exploited for disruptive technologies but in practice quantum features are fragile due to noisy environments. Quantum coherence, a fundamental such feature, is a basis-dependent property that is known to exhibit a resilience to certain types of Markovian noise. Yet, it is still unclear whether this resilience can be relevant in practical tasks. Here, we experimentally investigate the resilient effect of quantum coherence in a photonic Greenberger-Horne-Zeilinger state under Markovian bit-flip noise, and explore its applications in a noisy metrology scenario. In particular, using up to six-qubit probes, we demonstrate that the standard quantum limit can be outperformed under a transversal noise strength of approximately equal magnitude to the signal, providing experimental evidence of metrological advantage even in the presence of uncorrelated Markovian noise. This work highlights the important role of passive control in noisy quantum hardware, which can act as a low-overhead complement to more traditional approaches such as quantum error correction, thus impacting on the deployment of quantum technologies in real-world settings.

Experimental test of fine-grained entropic uncertainty relation in the presence of quantum memory.

The uncertainty principle, which gives the constraints on obtaining precise outcomes for incompatible measurements, provides a new vision of the real world that we are not able to realize from the classical knowledge. In recent years, numerous theoretical and experimental developments about the new forms of the uncertainty principle have been achieved. Among these efforts, one attractive goal is to find tighter bounds of the uncertainty relation. Here, using an all optical setup, we experimentally investigate a most recently proposed form of uncertainty principle-the fine-grained uncertainty relation assisted by a quantum memory. The experimental results on the case of two-qubit state with maximally mixed marginal demonstrate that the fine-graining method can help to get a tighter bound of the uncertainty relation. Our results might contribute to further understanding and utilizing of the uncertainty principle.

Experimental Trapped-ion Quantum Simulation of the Kibble-Zurek dynamics in momentum space.

The Kibble-Zurek mechanism is the paradigm to account for the nonadiabatic dynamics of a system across a continuous phase transition. Its study in the quantum regime is hindered by the requisite of ground state cooling. We report the experimental quantum simulation of critical dynamics in the transverse-field Ising model by a set of Landau-Zener crossings in pseudo-momentum space, that can be probed with high accuracy using a single trapped ion. We test the Kibble-Zurek mechanism in the quantum regime in the momentum space and find the measured scaling of excitations is in accordance with the theoretical prediction.