Efficacy and influencing factors of cervical perivascular sympathectomy in children with cerebral palsy.

BACKGROUND: There is a lack of research to determine the efficacy of cervical perivascular sympathectomy (CPVS) in children with cerebral palsy (CP). OBJECTIVE: This study aimed to evaluate the efficacy of CPVS in children with CP and analyze the associated influential factors. METHODS: Using the method of retrospective cohort studies, children who underwent CPVS were included in the CPVS group, whereas those who underwent selective posterior rhizotomy (SPR) were included in the SPR group. The Communication Function Classification System (CFCS) and Teacher Drooling Scale (TDS) were used to evaluate the communication function and salivation in the two groups before and 12 months after surgery and compare the surgical efficiency between the two groups, and the factors affecting the efficacy were screened by binary logistic regression. RESULTS: The study included 406 patients, 202 in the CPVS group and 204 in the SPR group. No significant differences were observed in the baseline characteristics (p > 0.05). The surgical efficacy of the CPVS group (47.01%) was significantly higher than that in the SPR group (9.81%) (χ2 = 71.08, p < 0.001). Binary logic regression analysis showed that preterm birth and Gross Motor Function Classification System (GMFCS) grade were influencing factors of surgical efficacy. Eighteen patients developed postoperative complications. CONCLUSION: CPVS is a safe and effective surgery for cerebral palsy. Preterm birth and GMFCS grade are independent factors affecting the efficacy of surgery.

Development and validation of a predictive model for poor prognosis of communication disorders in children with cerebral palsy after cervical perivascular sympathectomy.

Cervical perivascular sympathectomy (CPVS) can improve communication disorders in children with cerebral palsy (CP); however, there are no research reports on the factors affecting surgical efficacy. This study aimed to establish a nomogram for poor prognosis after CPVS. We collected data from 313 CP patients who underwent CPVS at the Neurosurgery Cerebral Palsy Center of the Second Affiliated Hospital of Xinjiang Medical University from January 2019 to January 2023. Among them, 70% (n = 216) formed the training cohort and 30% (n = 97) the validation cohort. The general data and laboratory examination data of both groups were analyzed. In training cohort, 82 (37.96%) showed improved postoperative communication function. Logistic analysis identified motor function, serum alkaline phosphatase, serum albumin, and prothrombin activity as the prognostic factors. Using these four factors, a prediction model was constructed with an area under the curve (AUC) of 0.807 (95% confidence interval [CI], 0.743-0.870), indicating its ability to predict adverse outcomes after CPVS. The validation cohort results showed an AUC of 0.76 (95% CI, 0.650-0.869). The consistency curve and Hosmer-Lemeshow test (χ2 = 10.988 and p = 0.202, respectively) demonstrated good consistency between the model-predicted incidence and the actual incidence of poor prognosis. Motor function, serum alkaline phosphatase, serum albumin, and prothrombin activity are independent risk factors associated with the prognosis of communication disorders after CPVS. The combined prediction model has a good clinical prediction effect and has promising potential to be used for early prediction of prognosis of CPVS.

The complete mitochondrial genome and novel gene arrangement in Nesodiprion zhejiangensis Zhou & Xiao (Hymenoptera: Diprionidae).

The complete mitochondrial genome (mitogenome) of the sawfly, Nesodiprion zhejiangensis Zhou & Xiao, was sequenced, assembled, and deposited in GenBank (Accession Number: OM501121). The 15,660 bp N. zhejiangensis mitogenome encodes for 2 ribosomal RNAs (rrnL and rrnS), 22 transfer RNAs (tRNAs), 13 protein-coding genes (PCGs), and an AT-rich region of 450 bp in length. The nucleotide composition is biased toward adenine and thymine (A + T = 81.8%). Each PCG is initiated by an ATN codon, except for cox2, which starts with a TTG. Of 13 PCGs, 9 have a TAA termination codon, while the remainder terminate with a TAG or a single T. All tRNAs have the classic cloverleaf structure, except for the dihydrouridine (DHU) arm of tRNAval, which forms a simple loop. There are 49 helices belonging to 6 domains in rrnL and 30 helices belonging to 4 domains in rrnS. In comparison to the ancestral architecture, N. zhejiangensis has the most rearranged mitogenome in Symphyta, in which rearrangement events of local inversion and transposition are identified in three gene clusters. Specifically, the main hotspot of gene rearrangement occurred between rrnS and trnY, and rearranged from rrnS-(AT-rich region)-I-Q-M-nd2-W-C-Y to rrnS-Q-W-C-nd2-I-M-(AT-rich region)-Y, involving a local inversion event of a large gene cluster and transposition events of some tRNAs. Transposition of trnA and trnR (rearranged from A-R to R-A) was observed at the nd3-nd5 gene junction while shuffling of trnP and trnT (rearranged from T-P to P-T) occurred at the nd4l-nd6 gene junction. While illegitimate inter-mtDNA recombination might explain the opposite orientations of transcription between rrnS and trnY, transposition events of tRNA in some gene blocks can be accounted for by the tandem duplication/random loss (TDRL) model. Our phylogenetic analysis suggests that N. zhejiangensis is closely related to congeneric species N. biremis and N. japonicus, which together form a sister lineage with the European pine sawfly, Neodiprion sertifer.

lncRNA MIR503HG Targets miR-191-5p/PLCD1 Axis and Negatively Modulates Apoptosis, Extracellular Matrix Disruption, and Inflammation in Abdominal Aortic Aneurysm.

As the most prevalent subtype of aortic aneurysm, abdominal aortic aneurysm (AAA) features the apoptosis, extracellular matrix (ECM) disruption, and inflammation response of vascular smooth muscle cells (VSMCs). Noncoding RNAs (ncRNAs) are crucial factors in AAA progression, while the investigations have not been fully explained. miR-191-5p upregulation is found in aortic aneurysm. However, its role in AAA has not been addressed. This research purposed to excavate the possible and associated molecular axis of miR-191-5p in AAA. In our study, miR-191-5p level was detected to be high in the tissues from AAA patients in comparison with the control group. After miR-191-5p expression was enhanced, cell viability was repressed, cell apoptosis was boosted, and ECM disruption and the inflammation response were fortified. Furthermore, the relationship among MIR503HG, miR-191-5p, and phospholipase C delta 1 (PLCD1) in VSMCs was disclosed via mechanism assays. Decreased MIR503HG lacked the inhibition on miR-191-5p targeting PLCD1, resulting in downregulation of PLCD1, which facilitated the progression of AAA. Thus, targeting MIR503HG/miR-191-5p/PLCD1 pathway will provide an additional method for the cure of AAA patients.

LncRNA nuclear-enriched abundant transcript 1 aggravates cerebral ischemia/reperfusion injury through activating early growth response-1/RNA binding motif protein 25 axis.

Ischemic stroke is a major global health issue. Ischemia and subsequent reperfusion results in stroke-related brain injury. Previous studies have demonstrated that nuclear-enriched abundant transcript 1 (NEATa and early growth response 1 (EGR1) are involved in ischemia reperfusion (IR) injury). In this study, we aimed to explore the roles of NEAT1/EGR1 axis as well as its downstream effector RNA binding motif protein 25 (RBM25) in cerebral IR injury. Oxygen-glucose deprivation/reperfusion (OGD/R) and middle cerebral artery occlusion (MCAO) were used to establish in vitro and in vivo models of cerebral IR injury, respectively. According to our data, NEAT1, EGR1, and RBM25 levels were elevated in OGD/R-exposed SK-N-SH and SH-SY5Y cells and cerebral cortex of MCAO mice. NEAT1, EGR1, or RBM25 knockdown effectively reduced infarct volumes and apoptosis, and improved neurological function. Mechanistically, NEAT1 directly interacted with EGR1, which restrained WW domain containing E3 ubiquitin protein ligase 1 (WWP1)-mediated ubiquitination of EGR1 and subsequently caused EGR1 accumulation. EGR1 bound to RBM25 promoter and transcriptionally activated RBM25. Rescue experiments indicated that RBM25 overexpression abolished the therapeutic effects of NEAT1 knockdown. In conclusion, this work identified a novel NEAT1/EGR1/RBM25 axis in potentiating brain injury after IR insults, suggesting a potential therapeutic target for ischemic stroke.

Tracking the Stepwise Formation of a Water-Soluble Fluorescent Tb12 Cluster for Efficient Doxorubicin Detection.

Doxorubicin (DOX) is an anthraquinone drug used for the efficient treatment of a variety of tumors in human beings. Unfortunately, its poor biodegradability causes incomplete metabolism in the body. Therefore, it is of great significance to synthesize a sensitive and selective material for DOX detection. In this paper, we report a water-soluble Tb12 cluster and track its step-by-step formation (L → Tb1L1 → Tb2L1 → Tb2L2 → Tb3L2 → Tb4L2 → Tb12L6). Tb12 can be used to determine the presence of DOX, which quenches the luminescence of the Tb12 aqueous solution, and the detection limit can reach 13 nM (KSV = 8.7 × 105 M-1). Tb12 has advantages of high sensitivity and high selectivity for the detection of DOX in a simulated environment of human urine and serum.

Subacute thyroiditis during early pregnancy: a case report and literature review.

BACKGROUND: Subacute thyroiditis (SAT) is rarely diagnosed in pregnant women, and only 7 cases have been reported to date. Thyroid dysfunction, especially hyperthyroidism, during pregnancy has been associated with both maternal and neonatal complications. Thus, the early diagnosis and treatment of SAT during pregnancy may be beneficial. We present a case report and literature review to complement the diagnostic evaluation and management of SAT during pregnancy. CASE PRESENTATION: A 27-year-old woman presented in gestational week 17 of her first pregnancy and had a negative prior medical history. She presented to the Endocrinology Department complaining of neck pain for one month that had intensified in the last five days. Physical examination revealed a diffusely enlarged thyroid gland that was firm and tender on palpation. The patient also had an elevated temperature and heart rate. The increasing and long-lasting pain coupled with a decreased level of thyroid-stimulating hormone indicated hyperthyroidism. Ultrasound findings were indicative of SAT. Importantly, the pain was so severe that 10 mg of oral prednisone per day was administered in gestational week 18, which was increased to 15 mg/d after 10 days that was discontinued in week 28. Levothyroxine was started in gestational week 24 and administered throughout the pregnancy. The patient responded well to the treatments, and her neck pain disappeared in gestational week 21. She gave birth to a healthy male in gestational week 41. CONCLUSION: SAT can be diagnosed and effectively managed during pregnancy, thus benefiting mothers and infants.

Parameters optimization using an artificial neural networks and release characteristics of humic acids during lignite bioconversion.

The bioconversion of coal at ambient conditions is a promising technology for coal processing. However, there are few examples of the optimization of processes for industrial-scale use. In this work, the optimization of process parameters affecting lignite bioconversion by an isolated fungus WF8 using an artificial neural network (ANN) combined with a genetic algorithm (GA) was carried out for modeling of humic acids (HAs) yield and parameters. Kinetic models were used to understand the release characteristics of HAs from the bioconversion of lignite. The results of the present work indicate that the optimal process parameters (OPP) are 29 °C, initial pH of 7, 180 rpm, 0.6 mmol·L-1 of CuSO4, 0.4 mmol L-1 of MnSO4, and 6.4 µmol·L-1 of veratryl alcohol (VA). The predicted experimental data obtained by ANN is similar to the actual and the significant correlation coefficient value (R2) of 0.99 indicates that ANN has good predictability. The actual yield of HAs are 5.17 mg·mL-1. During bioconversion, the fungus WF8 could loosen and attack the structure of lignite. The release of HAs produced by bioconversion of lignite under the OPP via diffusion and swelling is fit to zero-order model independent on concentration. This provides support for the industrial bioconversion of lignite.

Opposite trends of glycosides and alkaloids in Dendrobium nobile of different age based on UPLC-Q/TOF-MS combined with multivariate statistical analyses.

INTRODUCTION: Alkaloids and glycosides are the active ingredients of the herb Dendrobium nobile, which is used in traditional Chinese medicine. The pharmacological effects of alkaloids include neuroprotective effects and regulatory effects on glucose and lipid metabolism, while glycosides improve the immune system. The pharmacological activities of the above chemical components are significantly different. In practice, the stems of 3-year-old D. nobile are usually used as the main source of Dendrobii Caulis. However, it has not been reported whether this harvesting time is appropriate. OBJECTIVE: The aim of this study was to compare the chemical characteristics of D. nobile in different growth years (1-3 years). METHODS: In this study, ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry (UPLC-Q/TOF-MS) was employed to analyze the constituents of D. nobile. The relative abundance of each constituent was analyzed with multivariate statistical analyses to screen the characteristic constituents that contributed to the characterization and classification of D. nobile. Dendrobine, a component of D. nobile that is used for quality control according to the Chinese Pharmacopoeia, was assayed by gas chromatography. RESULTS: As a result, 34 characteristic constituents (VIP > 2) were identified or tentatively identified as alkaloids and glycosides based on MS/MS data. Moreover, the content of alkaloids decreased over time, whereas the content of glycosides showed the opposite trend. The absolute quantification of dendrobine was consistent with the metabolomics results. CONCLUSION: Our findings provide valuable information to optimize the harvest period and a reference for the clinical application of D. nobile.

A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.

BACKGROUND: Cataracts are defects of the lens that cause progressive visual impairment and ultimately blindness in many vertebrate species. Most cataracts are age-related, but up to one third have an underlying genetic cause. Cataracts are common in captive zoo animals, but it is often unclear whether these are congenital or acquired (age-related) lesions. RESULTS: Here we used a functional candidate gene screening approach to identify mutations associated with cataracts in a captive giant panda (Ailuropoda melanoleuca). We screened 11 genes often associated with human cataracts and identified a novel missense mutation (c.686G > A) in the MIP gene encoding major intrinsic protein. This is expressed in the lens and normally accumulates in the plasma membrane of lens fiber cells, where it plays an important role in fluid transport and cell adhesion. The mutation causes the replacement of serine with asparagine (p.S229N) in the C-terminal tail of the protein, and modeling predicts that the mutation induces conformational changes that may interfere with lens permeability and cell-cell interactions. CONCLUSION: The c.686G > A mutation was found in a captive giant panda with a unilateral cataract but not in 18 controls from diverse regions in China, suggesting it is most likely a genuine disease-associated mutation rather than a single-nucleotide polymorphism. The mutation could therefore serve as a new genetic marker to predict the risk of congenital cataracts in captive giant pandas.

Sandbur Drought Tolerance Reflects Phenotypic Plasticity Based on the Accumulation of Sugars, Lipids, and Flavonoid Intermediates and the Scavenging of Reactive Oxygen Species in the Root.

The perennial grass Cenchrus spinifex (common sandbur) is an invasive species that grows in arid and semi-arid regions due to its remarkable phenotypic plasticity, which confers the ability to withstand drought and other forms of abiotic stress. Exploring the molecular mechanisms of drought tolerance in common sandbur could lead to the development of new strategies for the protection of natural and agricultural environments from this weed. To determine the molecular basis of drought tolerance in C. spinifex, we used isobaric tags for relative and absolute quantitation (iTRAQ) to identify proteins differing in abundance between roots growing in normal soil and roots subjected to moderate or severe drought stress. The analysis of these proteins revealed that drought tolerance in C. spinifex primarily reflects the modulation of core physiological activities such as protein synthesis, transport and energy utilization as well as the accumulation of flavonoid intermediates and the scavenging of reactive oxygen species. Accordingly, plants subjected to drought stress accumulated sucrose, fatty acids, and ascorbate, shifted their redox potential (as determined by the NADH/NAD ratio), accumulated flavonoid intermediates at the expense of anthocyanins and lignin, and produced less actin, indicating fundamental reorganization of the cytoskeleton. Our results show that C. spinifex responds to drought stress by coordinating multiple metabolic pathways along with other adaptations. It is likely that the underlying metabolic plasticity of this species plays a key role in its invasive success, particularly in semi-arid and arid environments.

Aldehyde dehydrogenase 2 protects against sympathetic excitation-induced cardiac fibrosis.

Sympathetic stimulated-cardiac fibrosis imposes great significance on both disease progression and survival in the pathogenesis of many cardiovascular diseases. However, there are few effective therapies targeting it clinically. The cardioprotective effect of aldehyde dehydrogenase 2 (ALDH2) has been explored in many pathological conditions, whether it can exert benefit effects on chronic sympathetic stimulus-induced cardiac fibrosis remains unclear. In this study, we determined to explore the role of ALDH2 on isoproterenol (ISO)-induced cardiac fibroblasts (CF) proliferation and cardiac fibrosis. It was found that ALDH2 enzymatic activity was impaired in ISO-induced HCF proliferation and Aldh2 deficiency promoted mouse CF proliferation. Alda-1, an ALDH2 activator, exerted obvious suppressive effect on ISO-induced HCF proliferation, together with the induction of cell cycle arrest at G0/G1 phase and decreased expression of cyclin E1 and cyclin-dependent kinase 2 (CDK2). Mechanistically, the inhibitory role of Alda-1 on HCF proliferation was achieved by decreasing mitochondrial reactive oxygen species (ROS) production, which was partially reversed by rotenone, an inducer of ROS. In addition, wild-type mice treated with Alda-1 manifested with reduced fibrosis and better cardiac function after ISO pump. In summary, Alda-1 alleviates sympathetic excitation-induced cardiac fibrosis via decreasing mitochondrial ROS accumulation, highlighting ALDH2 activity as a promising drug target of cardiac fibrosis.

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

BACKGROUND: Alport syndrome (AS) is a kind of progressive hereditary nephritis induced by mutations of different genes that encode collagen IV. The affected individuals usually develop hematuria during childhood, accompanying with gradual deterioration of renal functions. In this study, the multi-pronged approach was employed to improve the diagnosis of AS. METHODS: Twenty-two children were diagnosed and treated at the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 using the multi-pronged approach. The following information was collected from patients, including age of onset, age at diagnosis, clinical manifestations, family history, renal pathology and genotype. RESULTS: All these 22 children were diagnosed with Alport syndrome according to the diagnostic criteria formulated by the Japanese Society of Nephrology (2015), among them, only 13 children met the diagnostic criteria released in 1988. All the 22 patients presented with hematuria, and proteinuria to varying degrees was observed in some patients. Three children suffered from hearing loss, but no child in the cohort had any visual problem or renal failure. Meanwhile, five patients were estimated to be at Stage 2, whereas the remaining 17 cases were at Stage 0. Renal biopsies were performed in 18 patients, including 14 showing glomerular basement membranes (GBM)-specific abnormalities. Moreover, 13 children were detected with mutations of genes encoding collagen IV. CONCLUSIONS: The multi-pronged approach helps to improve the diagnosis of AS. Most patients do not have renal failure during childhood, but close assessment and monitoring are necessary. Also, the advancements in treatment are reviewed.

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.

BACKGROUND: Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737G > A], which were inherited from his father and mother, respectively. CASE PRESENTATION: The patient visited our clinic due to non-nephrotic range proteinuria for 3 months, but no obvious abnormality was detected in the vital signs or laboratory test results. Renal histopathology revealed mitochondrial nephropathy, which manifested as mild glomerular abnormalities under light microscope, together with mitochondrial proliferation and hypertrophy and crowded arrangement under electron microscope. As suggested by whole exome sequencing, the patient inherited the COQ8B compound heterozygous variants from both of his parents who showed normal phenotype. After literature review, it was confirmed that one of the variant site (c.[271C > T]) had not been reported among the East Asian populations so far. CONCLUSIONS: Steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis are the most common phenotypes and renal histopathological manifestations of COQ8B variant. Nonetheless, our case shows that such variant may have hidden and mild clinical manifestations at the early onset. Therefore, early diagnosis will help to identify children at the early disease stage who have opportunity to benefit from oral coenzyme Q10 supplementation.

ZmPBF and ZmGAMYB transcription factors independently transactivate the promoter of the maize (Zea mays) ß-carotene hydroxylase 2 gene.

The maize (Zea mays) enzyme ß-carotene hydroxylase 2 (ZmBCH2) controls key steps in the conversion of ß-carotene to zeaxanthin in the endosperm. The ZmBCH2 gene has an endosperm-preferred and developmentally regulated expression profile, but the detailed regulatory mechanism is unknown. To gain insight into the regulation of ZmBCH2, we isolated 2036 bp of the 5'-flanking region containing the 263 bp 5'-untranslated region (5'-UTR) including the first intron. We linked this to the ß-glucuronidase reporter gene gusA. We found that high-level expression of gusA in rice seeds requires the 5'-UTR for enhanced activation. Truncated variants of the ZmBCH2 promoter retained their seed-preferred expression profile as long as a prolamin box and AACA motif were present. We identified candidate genes encoding the corresponding transcription factors (ZmPBF and ZmGAMYB) and confirmed that their spatiotemporal expression profiles are similar to ZmBCH2. Both ZmPBF and ZmGAMYB can transactivate ZmBCH2 expression in maize endosperm. To eliminate potential confounding effects in maize, we characterized the regulation of the minimal promoter region of ZmBCH2 in transgenic rice. This revealed that ZmPBF and ZmGAMYB independently transactivate the ZmBCH2 promoter. The mechanism that underpins our data provides an exciting new strategy for the control of target gene expression in engineered plants.

Analysis of misdiagnosed cases of hemorrhagic fever with renal syndrome in children: two cases and literature review.

BACKGROUND: Hemorrhagic fever with renal syndrome (HFRS) is an acute disease caused by hantavirus infection and is clinically characterized by fever, various hemorrhagic manifestations and transient renal and hepatic dysfunctions. Although various cases of HFRS have been reported, cases in children have rarely been described. Herein, we report two atypical cases of HFRS in children without distinctive manifestations and typical disease clinically progresses. CASE PRESENTATION: Patient 1 was a 11-year-old girl who attended our clinic for fever accompanying with acute renal failure, proteinuria and decreased level of complement 3 (C3) and thrombocytopenia without any hemorrhagic manifestations, acute glomerulonephritis was suspected first, especially lupus nephritis. Patient 2 was misdiagnosed as encephalitis at local hospital because of fever and headache for 4 days. With elevated liver transaminases, proteinuria and normal cerebrospinal fluid examination, HFRS was taken into consideration. Both of the two cases were supported and confirmed by serological test for Hantavirus. CONCLUSIONS: Clinical manifestations of HFRS in children often presented atypically and were milder than adults. Febrile disease accompanying with thrombocytopenia may lead to the suspected diagnosis of HFRS.

Anatomical study based on 3D-CT image reconstruction of the hip rotation center and femoral offset in a Chinese population: preoperative implications in total hip arthroplasty.

BACKGROUND: Several anatomical studies regarding the value of hip rotation center (HRC) and femoral offset (FO) have been performed in Western populations. However, there are a few data on hip morphological values in the Chinese population based on CT scans. This study measured the values of the hip and pelvis, especially HRC and FO, in a Chinese population and compared them with the published values obtained from Western populations. PATIENTS AND METHODS: One hundred patients (50 females and 50 males) were included in the present study, and 3D-CT reconstructions of the hip and pelvis were generated. The mean age was 51.4 ± 8.9 years and mean body mass index (BMI) was 23.5 ± 2.6 kg/m2. All the morphologic measurements were compared between genders and sides, and the relationships between different parameters were analyzed. RESULTS: The mean FO values were 38.4 ± 4.7 mm and 35.6 ± 4.4 mm for the males and females, respectively. A significant negative correlation was noted between FO and neck shaft angle (NSA) in both genders (r = - 0.262, P = 0.009 for the males, r = - 0.350, P ≤ 0.001 for the females). A significant positive correlation was found between horizontal distance (HD) and diameter of the femoral head (DFH) in both genders (r = 0.734, P ≤ 0.001 for the males, r = 0.658, P ≤ 0.001 for the females). A significant positive correlation was noted between HD and pelvic width (PW) in males (r = 0.455, P ≤ 0.001). A significant positive correlation was also noted between HD and pelvic height (PH) in males (r = 0.318, P ≤ 0.001). A significant positive correlation was observed between FO and pelvic cavity height (PCH) in males (r = 0.411, P ≤ 0.001), and a significant positive correlation was observed between VD and PCH in females (r = 0.497, P ≤ 0.001). The tip of the greater trochanter was, on average, 7.0 mm higher than the femoral head center. Relationships between DFH and pelvic morphometric parameters were also observed. CONCLUSION: The present morphological data and the relationships between them can be applied to design better ethnic-specific THA prostheses and preoperative plans.

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

BACKGROUND: We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4). CASE PRESENTATION: He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before. CONCLUSIONS: Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.

Reconstruction of the astaxanthin biosynthesis pathway in rice endosperm reveals a metabolic bottleneck at the level of endogenous ß-carotene hydroxylase activity.

Astaxanthin is a high-value ketocarotenoid rarely found in plants. It is derived from ß-carotene by the 3-hydroxylation and 4-ketolation of both ionone end groups, in reactions catalyzed by ß-carotene hydroxylase and ß-carotene ketolase, respectively. We investigated the feasibility of introducing an extended carotenoid biosynthesis pathway into rice endosperm to achieve the production of astaxanthin. This allowed us to identify potential metabolic bottlenecks that have thus far prevented the accumulation of this valuable compound in storage tissues such as cereal grains. Rice endosperm does not usually accumulate carotenoids because phytoene synthase, the enzyme responsible for the first committed step in the pathway, is not present in this tissue. We therefore expressed maize phytoene synthase 1 (ZmPSY1), Pantoea ananatis phytoene desaturase (PaCRTI) and a synthetic Chlamydomonas reinhardtii ß-carotene ketolase (sCrBKT) in transgenic rice plants under the control of endosperm-specific promoters. The resulting grains predominantly accumulated the diketocarotenoids canthaxanthin, adonirubin and astaxanthin as well as low levels of monoketocarotenoids. The predominance of canthaxanthin and adonirubin indicated the presence of a hydroxylation bottleneck in the ketocarotenoid pathway. This final rate-limiting step must therefore be overcome to maximize the accumulation of astaxanthin, the end product of the pathway.