The SLC14 gene family of urea transporters

Carrier-mediated urea transport allows rapid urea movement across the cell membrane, which is particularly important in the process of urinary concentration and for rapid urea equilibrium in non-renal tissues. Urea transporters mediate passive urea uptake that is inhibited by phloretin and urea analogues. Facilitated urea transporters are divided into two classes: (1) the renal tubular/testicular type of urea transporter, UT-A1 to -A5, encoded by alternative splicing of the SLC14A2 gene, and (2) the erythrocyte urea transporter UT-B1 encoded by the SLC14A1 gene. The primary structure of urea transporters is unique, consisting of two extended, hydrophobic, membrane-spanning domains and an extracellular glycosylated-connecting loop. UT-A1 is the result of a gene duplication of this two-halves-structure, and the duplicated portions are linked together by a large intracellular hydrophilic loop, carrying several putative protein kinase A (PKA) and -C (PKC) phosphorylation sites. UT-A1 is located in the apical membrane of the kidney inner medullary collecting duct cells, where it is stimulated acutely by cAMP-mediated phosphorylation in response to the antidiuretic hormone vasopressin. Vasopressin also up-regulates UT-A2 mRNA/protein expression in the descending thin limb of the loops of Henle. UT-A1 and UT-A2 are regulated independently and respond differently to changes in dietary protein content. UT-A3 and UT-A4 are located in the rat kidney medulla and UT-A5 in the mouse testis. The widely expressed UT-B participates in urea recycling in the descending vasa recta, as demonstrated by a relatively mild "urea-selective" urinary concentrating defect in transgenic UT-B null mice and individuals with the Jk_null blood group.     

Cortical projections arising from the basal forebrain: a study of cholinergic and noncholinergic components employing combined retrograde tracing and immunohistochemical localization of choline acetyltransferase

The neurochemical identity of ascending putative cholinergic pathways from the rat basal forebrain was investigated employing a method for simultaneously visualizing choline acetyltransferase immunoreactivity and retrogradely transported horseradish peroxidase-conjugated wheatgerm agglutinin. This histochemical procedure revealed three distinct populations of neurons: (1) cells which stained only for choline acetyltransferase immunoreactivity; (2) cells which stained only for retrograde tracer and (3) cells which stained simultaneously for choline acetyltransferase immunoreactivity and retrograde tracer. The results demonstrated that this projection is topographically organized and consists of both cholinergic and noncholinergic components. The relative contribution of each component varied with the telencephalic target area as follows: the olfactory bulb receives a projection from cells of the horizontal limb nucleus, 10-20% of which are cholinergic (Ch3); the hippocampal formation receives afferents from cells of the medial septal and vertical limb nuclei, 35-45% of which are cholinergic (Ch1 and Ch2); and the cortical mantle receives afferents primarily from cells within the substantia innominata-nucleus basalis complex, 80-90% of which are cholinergic (Ch4). The topographical organization of Ch4 projections is not as completely differentiated as we have previously observed in the primate.     

Effects of parathyroid hormone and calcitonin on Na+, Cl−, K+, Mg2+ and Ca2+ transport in cortical and medullary thick ascending limbs of mouse kidney

The effect of parathyroid hormone (PTH) on transepithelial Na⁺, Cl^–, K⁺, Ca²⁺ and Mg²⁺ transport was investigated in isolated perfused cortical thick ascending limbs (cTAL) and that of human calcitonin (hCT) was tested in both cortical and medullary thick ascending limbs (mTAL) of the mouse nephron. The transepithelial ion net fluxes (J _x) were determined by electron probe analysis of the perfused and collected fluids. Simultaneously, the transepithelial voltage (PD_te) and resistance (R _te) were recorded. In cTAL segments, PTH and hCT significantly stimulated the reabsorption of Na⁺, Cl^–, Ca²⁺ and Mg²⁺. hCT generated a net K⁺ secretion towards the lumen and PTH tended to exert the same effect. Neither PD_te nor R _te were significantly altered by either PTH or hCT. However, in the post-experimental period a significant decrease in PD_te was noted. Time control experiments carried out under similar conditions revealed a significant decrease in PD_te with time, which could have masked the hormonal response. In mTAL segments, Mg²⁺ and Ca²⁺ transport was close to zero. hCT did not exert any detectable effect on either PD_te or J _Cl ^–, J _Na ⁺ J _K ⁺, J _Mg ²⁺ and J _Ca ²⁺ in these segments. In conclusion, our data demonstrate that PTH and hCT stimulate NaCl reabsorption as well as Mg²⁺ and Ca²⁺ reabsorption in the cTAL segment of the mouse. These data are in agreement with and extend data obtained in vivo in the rat.     

Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias

In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height.     

Gender difference in the relationship of performance in the handgrip and standing long jump tests to lean limb volume in young adults

Summary Groups of young, adult males and females performed the handgrip and standing long jump tests. Their total forearm and leg volumes were calculated from a series of circumference and length measurements, and the lean volumes (bone + muscle) calculated by taking the skinfold thickness into consideration. In the handgrip, the mean female performance was 298 N compared with 496 N for the males. In the standing long jump, mean performance expressed as distance x body mass was 87.3 kg · m for females compared with 137.7 kg · m for males. These superior performances of males could simply reflect their greater muscle mass, as the mean lean volumes of female and male limbs respectively were 0.54 l and 0.89 l for forearms, and 11.82 l and 14.82 l for the two legs. However, when the performances of males and females were grouped by lean limb volume, it was found that while in both tests there were linear relationships, males and females did not share a common line. In both tests the male relationship was at a higher level than the female; therefore, for a given lean volume, the male performance was significantly superior to that of the female. The gender difference found in this study has not been seen in other studies in which the performance of skeletal muscle has been related to the cross-sectional area of the active muscles and the possible reasons for the differences are considered.     

Transient expression of thyroid hormone nuclear receptor TRbeta2 sets S opsin patterning during cone photoreceptor genesis.

Cone photoreceptors in the murine retina are patterned by dorsal repression and ventral activation of S opsin. TR beta 2, the nuclear thyroid hormone receptor beta isoform 2, regulates dorsal repression. To determine the molecular mechanism by which TR beta 2 acts, we compared the spatiotemporal expression of TR beta 2 and S opsin from embryonic day (E) 13 through adulthood in C57BL/6 retinae. TR beta 2 and S opsin are expressed in cone photoreceptors only. Both are transcribed by E13, and their levels increase with cone genesis. TR beta 2 is expressed uniformly, but transiently, across the retina. mRNA levels are maximal by E17 at completion of cone genesis and again minimal before P5. S opsin is also transcribed by E13, but only in ventral cones. Repression in dorsal cones is established by E17, consistent with the occurrence of patterning during cone cell genesis. The uniform expression of TR beta 2 suggests that repression of S opsin requires other dorsal-specific factors in addition to TR beta 2. The mechanism by which TR beta 2 functions was probed in transgenic animals with TR beta 2 ablated, TR beta 2 that is DNA binding defective, and TR beta 2 that is ligand binding defective. These studies show that TR beta 2 is necessary for dorsal repression, but not ventral activation of S opsin. TR beta 2 must bind DNA and the ligand T3 (thyroid hormone) to repress S opsin. Once repression is established, T3 no longer regulates dorsal S opsin repression in adult animals. The transient, embryonic action of TR beta 2 is consistent with a role (direct and/or indirect) in chromatin remodeling that leads to permanent gene silencing in terminally differentiated, dorsal cone photoreceptors.     

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia,intractable epilepsy,and complex gastrointestinal and urogenital malformations

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.     

互动式头针结合镜像疗法对脑卒中软瘫期上肢功能障碍的康复疗效

目的：探索脑卒中患者促进上肢运动功能恢复中头针与镜像疗法联合应用的临床价值。方法：选取株洲市中心医院2021年8月至2022年11月期间收治的60例脑卒中后上肢功能障碍患者,以随机分组的方式分为两组,每组30例。其中常规康复训练联合镜像治疗纳入对照组,在对照组基础上增加头针治疗纳入观察组。在治疗4周后,比较两组患者临床治疗有效性、Fugl–meyer运动功能评定量表（FMA）上肢部分评分以及Brunnstrom分期。结果：两组患者治疗后FMA评分均高于治疗前,且观察组患者治疗后FMA评分高于对照组,差异具有统计学意义（P<0.05）。观察组患者治疗后上肢Brunnstrom运动功能分期结果优于对照组,差异具有统计学意义（Z=–2.101,P <0.05）。观察组患者治疗后手Brunnstrom运动功能分期结果优于对照组,差异具有统计学意义（Z=–2.152,P <0.05）。结论：在恢复早期,头针、镜像疗法与常规康复训练有效结合,对脑卒中患者软瘫期上肢运动功能恢复具有积极作用。     

血府逐瘀汤预防上肢皮瓣术后血管危象的临床研究

〔摘 要〕 目的：观察血府逐瘀汤预防上肢皮瓣术后血管危象的临床疗效。 方法：选取 2022 年 1 月至 2023 年 1 月就诊于 赣州市南康区第一人民医院的 60 例行上肢皮瓣转移术的患者,采用简单数字随机法分为观察组和对照组,各 30 例。术后 对照组患者常规应用 “ 三抗 ” 治疗,观察组患者在 “ 三抗 ” 的基础上加服血府逐瘀汤剂,比较两组患者术后皮瓣的血运情 况、总体疗效。 结果：术后 3 d、7 d,观察组患者皮瓣肿胀程度优于对照组,差异具有统计学意义（Z 分别为 –2.28、–3.46, P ＜ 0.05）;术后 1 d、3 d、7 d,观察组患者毛细血管反应优于对照组,差异具有统计学意义（Z 分别为 –6.89、–6.29、–7.35, P ＜ 0.05）;观察组患者疗效优于对照组,差异具有统计学意义（Z = –3.44,P ＜ 0.05）。 结论：上肢皮瓣术后的患者在常 规 “ 三抗 ” 的基础上,加用血府逐瘀汤可有效减少血管危象的发生,提高皮瓣成活率。     

上下肢康复机器人检验常见问题的讨论

随着我国医疗器械技术的发展,上下肢康复机器人作为一种新型的医疗器械出现在大众面前,很大程度上替代了传统的康复训练,提高了康复训练的效率。但是上下肢康复机器人的出现也伴随着一些问题,文章结合上下肢康复机器人的一些标准及广东省医疗器械质量监督检验所近年来对上下肢康复机器人的检测情况进行探讨,并提出一些问题和建议,以期能够规范上下肢康复机器人的市场和提高上下肢康复机器人的产品质量。