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This article reported the diagnosis and treatment of a boy with Dent disease presenting with massive proteinuria.He was 3 years old and found to have massive proteinuria during routine physical examination without hypoalbuminemia, urine protein electrophoresis indicated mainly low molecular weight proteins, with hypercalciuria, and metabolic acidosis, no diabetes, no amino acid urine, and renal ultrasound showed no renal calcium deposition, He had no mental and physical developmental delay and no abnormal family history. Gene detection revealed one missense mutation in exon 15 of the OCRL1 gene, c.1477C > T (p.Arg493Trp). After the diagnosis was confirmed, restrictions in dietary intake of calcium, sodium, and oxalate was restricted and oral potassium citrate and hydrochlorothiazide was prescribed. During two months of follow-up, we observed a decrease in urinary calcium levels and normal renal function. This article aims to improve the understanding of this disease among physicians and provide reference for the diagnosis and treatment of this disease through typical case report and review of previous literatures.

Bartter syndrome (BS, OMIM #601678) is a rare inherited salt-losing tubulopathy characterized by hypokalemia metabolic alkalosis with secondary renin-angiotensin-aldosterone system activation. As reported, BS type 1 is generally presented prenatal and neonatal period, and symptoms usually appear before and after birth or in infancy, accompanied by severe salt loss, whilst kidney function remains mostly normal. In this study, we report a case of BS type 1 with childhood onset and proteinuria and renal impairment. The child was born preterm due to hyperamniotic fluid, but there were no apparent symptoms after birth until the age of 3 when the child began to present with polydipsia, polyuria and increased nocturnal uria. At the age of 5, she had elevated serum creatinine level and proteinuria. After admission, she was diagnosed with chronic tubulointerstitial disease and stage 2 chronic kidney disease(CKD). According to the chloride clearance test, the abnormal function of medullary thick ascending limb Henle′s loop, was confirmed and BS type 1 was diagnosed by gene sequencing. After active management of complications, kidney function of the child improved. In the long-term follow-up, the urinary protein amount of the child still increased, eGFR slowly decreased, and the child was currently in the CKD2 stage. Children with prenatal BS may not present typical clinical manifestations immediately after birth until the onset of relevant clinical symptoms in childhood. BS type 1 patients may have renal impairment, which needs to be identified in time. Clinical differentiation diagnosis between BS and Gitelman syndrome can be made by chloride clearance tests. Early diagnosis and treatment are critical to improve prognosis.

BackgroundMethylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs. However, cases of coronary artery ectasia have been rarely reported.Case presentationHere, we report the case of a 4-year-old girl who was hospitalized mainly because of pallor, brown urine, and fatigue, followed by hypertension, renal insufficiency, hemolytic anemia, cardiac enlargement, cardiac insufficiency, and coronary artery ectasia. Thrombotic microangiopathy (TMA) was confirmed by renal pathological examination. Metabolic examination showed hyperhomocysteinemia and methylmalonic aciduria. Furthermore, genetic assessment confirmed MMACHC gene variant, which confirmed the final diagnosis of a cblC defect. Intramuscular injection of hydroxy-cobalamin, oral medications of betaine, levocarnitine, folic acid, and aspirin were administered. Three months later, the patient’s condition was significantly improved. Anemia was corrected, and the renal function was normal. Heart size, cardiac function, and coronary artery structure completely returned to normal.ConclusionThe clinical manifestation of cblC deficiency is atypical. This critical condition may be associated with multiple organ involvement. A rare complication, coronary artery ectasia, can also occur. Early identification, careful evaluation, and appropriate treatment are crucially important for the improvement of this disease prognosis.

As an innovative neural modulation technique, the transcranial magneto-acousto-electric (MAE) stimulation (TMAES) realizes the synergistic regulation of neuronal discharge through the ultrasonic mechanical and inductive electric effects, offering significant prospects in biomedical applications. However, the stimulation accuracy is still limited by the unidirectional distribution of MAE field intensity. A method of constructing center-converging MAE field by coupling the helical wave fronts of focused acoustic-vortex (FAV) beams with a coaxial magnetic field is proposed. By describing FAVs with Laguerre–Gaussian functions, the theory of MAE field construction is derived in explicit formulae and the spatiotemporal characteristics of MAE fields in the focal region are analyzed. It is theoretically and experimentally demonstrated that the MAE field generated by the FAV of lth order is determined by those of (l − 1)th and (l + 1)th orders. The center-converging phase-rotating MAE field can only be generated by the FAV of first order, maintaining a constant peak intensity at the vortex center. Experimental distributions of MAE fields for FAVs of different orders show good agreements with numerical simulations. With the peak pressure of 0.86 MPa and the magnetic intensity of 0.3 T, the peak intensity of 62.1 mV/m reaching the electric stimulation threshold is achieved. The center-converging MAE field constructed by FAV may develop a new synergistic neural modulation scheme for TMAES with enhanced precision and flexibility while ensuring safety and efficacy, thereby exhibiting significant scientific and practical implications. [ABSTRACT FROM AUTHOR]

A primary wideband calibration method for noise hydrophones is developed, which can be applied to obtain noise acoustic spectral density sensitivity in the free-field. In this method, a wideband three-transducer spherical wave reciprocity calibration method is proposed in the frequency domain. A lowpass spatial domain filter is utilized to eliminate the reflecting acoustic waves from boundaries and water surface, and the wideband frequency responses of the transducer pair are calculated. Wideband calibrations are performed in a laboratory anechoic water tank, and two hydrophones with different reference sensitivities are calibrated in the frequency range of 250 Hz to 20 kHz using noise signals. The decidecade band sensitivities are obtained by the primary wideband calibration, which is in agreement with the single frequency sensitivities. The expended uncertainty of the primary wideband calibration is analyzed and estimated to be 8.9% (k = 2). [ABSTRACT FROM AUTHOR]