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PubMed2004

Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.

A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hypertension and hypokalemia complicated with seizures and arrhythmia developed in this 9-year-old girl after abrupt withdrawal of oral dexamethasone but maintenance of fludrocortisone. Suspicion of 11 beta-hydroxylase deficiency led to DNA mutation analysis, which revealed a novel point mutation (CTG 461 CCG) in the CYP11B1 gene converting leucine to proline. Her condition stabilized rapidly after withdrawal of fludrocortisone and administration of hydrocortisone. Regular measurement of blood pressure should be performed in all patients with CAH and test of serum 11-deoxycortisol or deoxycorticosterone level should be performed in those patients with elevated blood pressure to avoid misdiagnosis of 11 beta-hydroxylase deficiency.

Adrenal Hyperplasia, Congenital↗
PubMed2000

Chronic restraint stress promotes lymphocyte apoptosis by modulating CD95 expression.

Depending on the duration and severity, psychological tension and physical stress can enhance or suppress the immune system in both humans and animals. Although it is well established that stress alters the release of various hormones and neurotransmitters, the mechanisms by which stress affects immune responses remain elusive. We report here that mice subjected to chronic 12-hour daily physical restraint for two days exhibited a significant reduction in splenocytes, a process likely mediated by apoptosis as demonstrated by the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end labeling assay. CD95 (Fas/APO-1) expression in splenic lymphocytes of stressed mice was substantially increased. Interestingly, Fas-immunoglobulin fusion protein and blocking antibodies against CD95 ligand inhibit stress-induced reduction in lymphocytes. The stress-induced changes in CD95 expression and lymphocyte number could be blocked by naltrexone or naloxone, specific opioid receptor antagonists, indicating a pivotal role of endogenous opioids in this process. In addition, the reduction of splenocytes in this model system seems to be independent of the hypothalamo-pituitary-adrenal axis, as both adrenalectomized and sham-operated mice exhibited similar responses to chronic stress. Moreover, chronic physical restraint failed to induce a decrease in lymphocyte numbers in CD95-deficient (Fas(lpr/lpr)) mice. Therefore, stress modulates the immune system through CD95-mediated apoptosis dependent on endogenous opioids.

Animals↗
PubMedDate not supplied

Cockayne syndrome in a family.

Cockayne syndrome is one of the families of rare progeroid syndromes. We report on two female siblings suffering from Cockayne syndrome. At birth, they both appeared normal, although both demonstrated a low birth weight and breech presentation. The first-born child died at the age of eight months with associated contracted limbs, brain calcification, and photosensitivity. The younger sibling exhibited short stature, microcephaly, a beaked nose and malformed ears, spasticity, photosensitivity, pigmented degeneration of the retina, and psychomotor retardation at the age of six years. Intracranial calcification and the absence of a brain stem-evoked potential were also noted. Testing her skin fibroblasts, which showed a moderate UV sensitivity and a severe deficiency of transcription-coupled repair established the diagnosis of Cockayne syndrome. Genetic counseling was offered for the family.

Child↗
PubMed1999

Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality.

Yin Yang 1 (YY1) is a zinc finger-containing transcription factor and a target of viral oncoproteins. To determine the biological role of YY1 in mammalian development, we generated mice deficient for YY1 by gene targeting. Homozygosity for the mutated YY1 allele results in embryonic lethality in the mouse. YY1 mutants undergo implantation and induce uterine decidualization but rapidly degenerate around the time of implantation. A subset of YY1 heterozygote embryos are developmentally retarded and exhibit neurulation defects, suggesting that YY1 may have additional roles during later stages of mouse embryogenesis. Our studies demonstrate an essential function for YY1 in the development of the mouse embryo.

Animals↗
PubMed2006

Short-term daily or weekly administration of micronutrient Sprinkles has high compliance and does not cause iron overload in Chinese schoolchildren: a cluster-randomised trial.

OBJECTIVES: To examine consumption rates and serum ferritin (SF) concentrations (as a marker of safety) among schoolchildren (3-6 years) provided with daily and weekly micronutrients. DESIGN AND METHODS: Micronutrients were provided for one school term (13 weeks) to a kindergarten in northern China as single-dose Sprinkles sachets containing 30 mg of iron as encapsulated ferrous fumarate, 5 mg zinc gluconate, 50 mg vitamin C, 300 microg vitamin A, 7.5 microg vitamin D3 and 150 microg folic acid. Sixteen classrooms were randomly assigned to: (1) daily supplements for 5 days a week (daily group); (2) weekly supplements (weekly group); or (3) no supplements (control group). Consumption of sachets was monitored for each child and SF concentrations were measured at the end of study. Random effects general linear models and graphs were used to compare the groups. RESULTS: A total of 415 children from 16 classrooms entered the study. At the end of the study, mean consumption rates per child were 86% (daily group; standard deviation (SD) 12%) and 87% (weekly group; SD 16%). Median SF concentrations were 71 microg l(-1) (range 27-292 microg l(-1); daily group), 55 microg l(-1) (range 11-299 microg l(-1); weekly group) and 54 microg l(-1) (range 7-327 microg l(-1); control group); the overall difference was not significant (P=0.06). However, the daily group was significantly different from the control (P=0.02); daily and weekly groups had higher SF at lower percentiles and similar SF at higher percentiles compared with the control group. CONCLUSION: The high consumption rates and appropriate SF concentrations in the supplemented groups suggest that a short-term school programme with Sprinkles is an efficient and safe way to provide micronutrients (including iron).

Administration, Oral↗
PubMed2026

Four-dimensional molecular mapping from a spatial snapshot reveals the dynamics of hair follicle organogenesis.

Understanding organ formation requires capturing molecular information simultaneously in three-dimensional (3D) space and across developmental time. To this end, we developed 3D DNase-Enhanced Expression Profiling (3DEEP), a tissue-clearing approach that removes genomic DNA to extend spatial transcriptomic profiling hundreds of microns into intact tissues. We applied 3DEEP to neonatal mouse skin, capturing hundreds of developing hair follicles across their organogenesis trajectory. Ordering follicles by molecularly inferred developmental age transformed this single spatial snapshot into a four-dimensional (3D + time) molecular map of organogenesis. This map revealed developmental dynamics spanning stem cell compartment stratification, emergence of new cell subtypes within the follicle, and cascading structural transformations leading to hair canal formation. Comparative analysis of Foxn1-deficient nude mice, a hairlessness model, revealed organ-wide changes in developmental dynamics, including delayed molecular progression, reduced coordination, and increased developmental instability, preceding overt structural defects. This work demonstrates how deep-tissue spatial transcriptomics can uncover hidden dynamics of organ formation.

Animals↗
PubMed2002

Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice.

Mice null for the Pms2 mismatch repair (MMR) gene exhibit a predisposition to lymphoma, microsatellite repeat instability, and failure of spermatogenesis. To study the role of Pms2 in the maintenance of in vivo genomic integrity in somatic cells, we characterized Aprt mutations in T cells and fibroblasts of 129 x C3H Pms2-/-Aprt+/- mice. The spontaneous frequency of DAP-resistant T lymphocytes, as a consequence of APRT-deficiency, was increased threefold. Point mutation, which accounted for less than 20% of the DAP(r) mutant clones in Pms2+/+ mice, was predominant in the mutant T cell clones from Pms2-/- mice. These point mutations were predominantly TA to CG transitions. Fibroblasts of Pms2-/- mice exhibited only a modest increase in the frequency of clones with point mutations, such that mitotic recombination was still the primary cause of APRT deficiency. Thus, the mutator phenotype as a consequence of PMS2 deficiency is tissue-dependent, which may be related to the tissue-specific tumor proneness of Pms2-/- mice.

Adenine Phosphoribosyltransferase↗
PubMed2005

Bid deficiency ameliorates ischemic renal failure and delays animal death in C57BL/6 mice.

Tubular cell apoptosis is involved in ischemic renal failure, but the underlying mechanism is unclear. Bid, a proapoptotic Bcl-2 family protein, may regulate the intrinsic as well as the extrinsic pathway of apoptosis. In vivo, Bid is most abundantly expressed in the kidneys. However, the role played by Bid in renal pathophysiology is unknown. Our recent work demonstrated Bid activation during renal ischemia-reperfusion. The current study has determined the role of Bid in ischemic renal injury and renal failure using Bid-deficient mice. In wild-type C57BL/6 mice, Bid was proteolytically processed into active forms during renal ischemia-reperfusion, which subsequently targeted mitochondria. This was accompanied by the development of tissue damage and severe renal failure, showing serum creatinine of 3.0 mg/dl after 48 h of reperfusion. The same ischemic insult induced acute renal failure in Bid-deficient mice, which was nonetheless less severe than the wild-type, showing 1.3 mg/dl serum creatinine. In addition, Bid deficiency attenuated tubular disruption, tubular cell apoptosis, and caspase-3 activation during 48 h of reperfusion. Compared with wild-type, animal death following renal ischemia was delayed in Bid-deficient mice. Collectively, the results suggest a role for Bid in ischemic renal injury and renal failure.

Animals↗
PubMed2006

Differential usefulness of various markers in the flow cytometric detection of paroxysmal nocturnal hemoglobinuria in blood and bone marrow.

In this study, we examined the usefulness of various markers on blood cell populations in the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH). We also evaluated bone marrow specimens, which generally are considered less suitable than blood owing to variable expression of glycosyl phosphatidylinositol (GPI)-linked antigens during hematopoietic cell differentiation. All 15 patients in our cohort had subpopulations of CD16/CD55-deficient granulocytes and CD14/CD55-deficient monocytes ("PNH clones"). The PNH clone size of granulocytes and monocytes was greater than that of erythrocytes or lymphocytes in the majority of the cases. It is interesting that CD59 showed limited usefulness for detecting PNH+ monocytes. Normal monocytes exhibited significantly dimmer CD59 expression than normal granulocytes. PNH-deficient monocytes expressed only marginally lower CD59, making it a less robust marker for highlighting PNH+ monocytes compared with CD14 or CD55. Finally, our study demonstrated the definitive usefulness of a limited combination of markers (CD16/CD55/CD45/CD14) in detecting GPI-deficient monocytes and granulocytes in bone marrow specimens submitted for flow cytometric evaluation of cytopenias.

Adolescent↗
PubMed2005

[Application of RNAi in gene-deficient models].

RNA interference (RNAi), a process of sequence-specific gene silence,can effectively and specifically suppress the activity of corresponding mRNAs in a gene-dependent manner induced by double-stranded RNA (dsRNA). This powerful technology has been widely employed to manipulate gene expression in mammalian and human cells, elucidate signal transduction pathways and identify gene functions in a whole-genome scale. Simultaneously, it also displays a bright and fascinating future in the research and development of RNAi-based drugs for various diseases such as viral infections, cancers, metabolic disorders and genetic diseases. In present review, we attempt to recapitulate the application of this breakthrough technology in establishing gene-deficient models and show the alluring foreground of RNAi-based gene therapy in these diseases.

Animals↗
PubMed1995

Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

The instability of short repetitive sequences in tumor DNA can result from defective repair of replication errors due to mutations in any of several genes required for mismatch repair. Understanding this repair pathway and how defects lead to cancer is being facilitated by genetic and biochemical studies of tumor cell lines. In the present study, we describe the mismatch repair status of extracts of 22 tumor cell lines derived from several tissue types. Ten were found to be defective in strand-specific mismatch repair, including cell lines from tumors of the colon, ovary, endometrium, and prostate. The repair defects were independent of whether the signal for strand specificity, a nick, was 5' or 3' to the mismatch. All 10 defective cell lines exhibited microsatellite instability. Repair activity was restored to 9 of these 10 extracts by adding a second defective extract made from cell lines having known mutations in either the hMSH2 or hMLH1 genes. Subsequent analyses revealed mutations in hMSH2 (4 lines) and hMLH1 (5 lines) that could explain the observed microsatellite instability and repair defects. Overall, this study strengthens the correlation between microsatellite instability and defective mismatch repair and the suggestion that diminuition in mismatch repair activity is a step in carcinogenesis common to several types of cancer. It also provides an extensive panel of repair-proficient and repair-deficient cell lines for future studies of mismatch repair.

Adaptor Proteins, Signal Transducing↗
PubMed1999

Clinical experience in acupuncture treatment of obesity.

Obesity manifests itself as derangement of qi and blood with disorder of the defensive qi in particular to be a causative factor of primary importance, meanwhile, deficiency of the primary qi in Sanjiao may also contribute to it. Fundamentally, its pathological changes are also related to dysfunction of the spleen and stomach. According to syndrome differentiation, obesity can be classified into three types, namely, heat in the stomach and intestine, spleen and stomach qi deficiency, and deficiency of primary qi. The main methods of treatment include clearing and reducing heat in the stomach and intestine; regulating qi in the fu organs and promoting water metabolism; balancing and regulating qi and blood, yin and yang, and removing stagnation of defensive qi.

Acupuncture Points↗
PubMed2000

[Effect of Weikangfu granule on ultrastructure of gastric mucosa in patients of precancerosis with spleen deficiency syndrome].

OBJECTIVE: To observe the effect of Weikangfu Granule (WKFG) on the ultrastructure of gastric mucosa. METHODS: WKFG was used to treat 61 patients with gastric mucosa intestinal metaplasia or atypical proliferation, and histopathological and ultrastructural examination on gastric mucosa of antral region obtained through gastroscopy were conducted before and after treatment. RESULTS: After treatment, the histopathology and intestinal metaplasia subset of antral focal region, and the background lesion in ultrastructure of the mucosa in the nonfocal region were all improved in the 4 groups, The effects of Spleen-Qi Deficiency syndrome group and Spleen-Yang Deficiency group were superior to Ying-Deficiency group as well as Spleen-Deficiency and Qi-Stagnation group (P < 0.05, P < 0.01), and approached to those in the healthy control group. CONCLUSION: WKFG improves the quantitative balance of internal bioactive substances to maintain the homeostasis, promotes the ultrastructural normalization of mucosa so as to cure the clinical symptoms and reverse the intestinal metaplasia and atypical proliferation of mucosa.

Adult↗
PubMed2005

[Effect of vitamin B6 status on selenium retention in the tissues in rats fed selenium from sodium selenate].

OBJECTIVE: To study the effect of vitamin B6 status on selenium retention in tissues. METHODS: Weaning male Wistar, 4-week-old, fed with vitamin B6-selenium-deficient basal diet for 3 weeks was randomly divided into 6 groups. There were six experimental diets, that is basal diet (vitamin B6-selenium-deficient), basal diet supplemented with vitamin B6, and supplemented with Se 0.25 mg/kg as Na2 SeO4 and vitamin B6 0, 1.0 2.5 and 5.0 mg/kg diet as pyridoxine HCl for 4 weeks, three-days metabolic test was carried out before finished the study. RESULTS: Compared with each group supplemented with vitamin B6, the vitamin B6 deficient groups had a significantly low body weight gain and diet availability, and lower selenium retention in heart, liver, and kidneys, however, the status of vitamin B6 had no significant effect on the weight and selenium retention in the testes. Vitamin B6 had no significant influence on the selenium apparent absorption and retention by the three days metabolic test. CONCLUSION: Providing adequate vitamin B6 could be benefit for improving rat growth and development and increasing selenium retention in the tissues.

Animals↗