Idiopathic atrophoderma of Pasini and Pierini is a form of dermal atrophy of unknown etiology, usually affecting women during their adolescence and young adulthood. A 2-yr-old girl was presented with erythematous atrophic lesion on the right shoulder, which appeared from birth. The histologic findings were consistent with atrophoderma. This patient, to the best of our knowledge, is the first case of atrophoderma with an onset since birth.
Atrophy/congenital/metabolism ; Biopsy ; Child, Preschool ; Collagen/metabolism ; Erythema/pathology ; Female ; Humans ; Skin/*pathology

Angiotensin II ; metabolism ; Animals ; Male ; Muscle, Skeletal ; Muscular Atrophy ; etiology ; metabolism ; pathology ; Rats ; Rats, Sprague-Dawley

Hypoxia inducible factor-1α (HIF-1α), as a hypoxia inducible factor, affects women's reproductive function by regulating the development and excretion of follicles. HIF-1α induces glycolysis and autophagy in the granule cells by promoting oocyte development, regulating the secretion of related angiogenic factors, and improving follicle maturity. In addition, HIF-1α promotes the process of luteinization of follicular vesicles, maintains luteal function, and finally completes physiological luteal atrophy through cumulative oxidative stress. Dysfunction of HIF-1α will cause a series of pathological consequences, such as angiogenesis defect, energy metabolism abnormality, excessive oxidative stress and dysregulated autophagy and apoptosis, resulting in ovulation problem and infertility. This article summarizes the previous studies on the regulation of follicle development and excretion and maintenance of luteal function and structural atrophy by HIF-1α. We also describe the effective intervention mechanism of related drugs or bioactive ingredients on follicular dysplasia and ovulation disorders through HIF-1α, in order to provide a systematic and in-depth insights for solving ovulation disorder infertility.
Female ; Humans ; Atrophy/metabolism* ; Hypoxia ; Hypoxia-Inducible Factor 1, alpha Subunit/metabolism* ; Infertility/metabolism* ; Ovarian Follicle ; Ovulation

OBJECTIVETo evaluate the expression of telomerase transcriptional elements-interacting factor (TEIF) in human testis under different status and its relation with human telomerase reverse transcriptase (hTERT) expression.

METHODSSpecific antisera against TEIF were generated by immunization of rabbits with purified recombinated partial TEIF. Samples were assigned to three groups according to their pathological types, including 16 normal testes, 8 atrophic testes, and 6 testicular seminomas. They were subjected to immunohistochemical staining of TEIF and hTERT. Results from both TEIF and hTERT were analyzed semi-quantitatively and compared.

RESULTSThe expressions of TEIF and hTERT were detected in all samples of normal, atrophic testes, and seminomas. No differences of TEIF expressions among these three groups were observed (P > 0.05). On the contrary, the expressions of hTERT were significantly lower in atrophic testes compared with those of normal testes and seminomas (both P < 0.05). Nevertheless, co-expressions of TEIF with hTERT were revealed to be in normal and malignant cases (P < 0.05) but not in atrophic testes, which generally presented TEIF expression. The cellular distributions of both proteins were similar and mainly in spermatocytes and some Sertoli cells, while were all negative in the interstitial cells and other stromal cells. Conclusions The uniform expressions of TEIF in all these specimens suggest that it may be a marker of testis and its related diseases. The strong expression of hTERT in normal testes and testicular seminomas comparing with the low expression in atrophic testes may suggest a role for telomerase in maintaining proliferation of germ cells.

Atrophy ; Biomarkers ; DNA-Binding Proteins ; metabolism ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Seminoma ; metabolism ; Telomerase ; metabolism ; Testicular Neoplasms ; metabolism ; Testis ; metabolism ; pathology ; Transcription Factors ; metabolism

Brain computed tomographic findings in 4 cases of Wilson disease were analysed. All subjects were diagnosed by biochemical assays of copper metabolism and presence of Kayser-Fleisher rings. The results were as followings: 1. Brain CT findings were abnormal in all. Low densities in lenticular nuclei were observed in three cases. Cortical atrophy with ventricular dilatation was observed in three cases. Cerebellar atrophy was observed in one case. In one case, cerebellar atrophy was revealed as main feature. In another one, cortical atrophy with ventricular dilattion was revealed as main feature. 2. After contrast enhancement, faintly enhancing nodules were observed in two cases. One showed ill-defined enhancing nodules in frontal and parietal areas and the other showed a rim enhancing nodule with surrounding low density in left frontal area. 3. Neurologic symptoms of the patients were relatively well correlated with their brain CT findings. Such symptoms did not improved after treatment. It is probably due to irreversible brain damage.
Atrophy ; Brain* ; Copper ; Dilatation ; Hepatolenticular Degeneration* ; Humans ; Metabolism ; Neurologic Manifestations ; Rabeprazole

OBJECTIVETo investigate the expression and relationship of programmed cell death 5 (PDCD5) and cell apoptosis in the parotid gland after leading duct ligation in rat and elucidate the role of PDCD5 on the atophy of parotid gland.

METHODSThe Wistar rat model of leading duct ligation was established, and the samples of parotid gland were obtained from different time point (0, 1, 3, 5, 7, 14, 21, 30, 60, 90 and 120 d). The expression of PDCD5 protein was examined by immunohistochemistry. Cell apoptosis was detected by terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL).

RESULTSThe distribution of PDCD5 protein in normal parotid was in cytoplasm with uniformity. The expression of PDCD5 protein was significantly increased and reached the peak at 3 d (1.261 ± 0.048) following main duct ligation. PDCD5 was located both in cytoplasm and nuclear of parotid gland cells. The PDCD5 density in acinar cells was higher than that in duct cells at day 1 and 3 after duct ligation (P < 0.01). The apoptotic cells were obviously upregulated at 3 d after duct ligation. The apoptosis index observed in acinar cells [(21.750 ± 0.119)%] was more than that in duct cells [(5.720 ± 0.205)%]. The difference of apoptosis index between acinar cells and duct cells was statistically significant (P < 0.01). The increased PDCD5 levels were positively correlated with cell apoptosis induced by duct ligation.

CONCLUSIONSThe expression of PDCD5 is associated with the atophy of the parotid gland after rat parotid duct ligation, indicating that PDCD5 might play an important role in apoptotic pathways after parotid duct ligation.

Acinar Cells ; metabolism ; Animals ; Apoptosis ; Apoptosis Regulatory Proteins ; metabolism ; Atrophy ; Cell Nucleus ; metabolism ; Cytoplasm ; metabolism ; Ligation ; Male ; Parotid Gland ; cytology ; metabolism ; pathology ; Rats ; Rats, Wistar ; Salivary Ducts

OBJECTIVE: To detect metabolic changes of bilateral frontal lobe in patients with multiple system atrophy (MSA) and cognitive dysfunction by 1H-proton magnetic resonance spectroscopy (1H-MRS).
 METHODS: N-acetylaspartate (NAA)/creatine(Cr), choline (Cho)/Cr, myoinositol (mI)/Cr in three sides of frontal lobe were detected by 1H-MRS in 48 healthy controls, 23 patients with MSA and cognitive dysfunction and 19 patients with MSA but without cognitive dysfunction.
 RESULTS: NAA/Cr of bilateral frontal lobes in patients with MSA and cognitive dysfunction was significantly decreased compared with MSA patients without cognitive dysfunction and healthy controls (P<0.05). mI/Cr of right frontal lobes was significantly increased in patients with MSA and cognitive dysfunction compared with healthy controls (P<0.05). There was a negative correlation between NAA/Cr of bilateral frontal lobes and duration while a positive correlation between NAA/Cr of bilateral frontal lobes and MoCA score in patients with MSA and cognitive dysfunction.
 CONCLUSION There is a decrease in NAA/Cr and an increase in mI/Cr in frontal lobes in patients with MSA and cognitive dysfunction, which may be associated with cognitive dysfunction in MSA patients.
Aspartic Acid ; analogs & derivatives ; metabolism ; Choline ; metabolism ; Cognition Disorders ; physiopathology ; Creatine ; metabolism ; Frontal Lobe ; metabolism ; Humans ; Inositol ; metabolism ; Multiple System Atrophy ; physiopathology ; Proton Magnetic Resonance Spectroscopy

Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is caused by mutation in the chromosome 5(q11.2-q13.3), and the majority of the patient shows homozygous deletion of the telomeric survival motor neuron(SMN) gene in the chromosome 5. Deletion of exon 7 and 8 of the SMN gene and deletion of exon 4 and 5 of the neuronal apoptosis inhibitory protein(NAIP) are typically observed in SMA patients. The SMN protein plays a role in an essential cell metabolism process, the splicing of pre mRNA in the spliceosomes. We report a 7 month old male with SMA. He showed rapidly aggrdvatial muscular weakness and died at 7 months. His DNA analysis proved deletion of exon 7 and 8 of the telomeric copy of the SMN gene.
Anterior Horn Cells ; Apoptosis ; Chromosomes, Human, Pair 5 ; DNA ; Exons* ; Humans ; Infant ; Male ; Metabolism ; Motor Neurons* ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal* ; Neurons ; RNA Precursors ; Spliceosomes

Alzheimer's disease (AD) is a devastating late-life dementia that produces progressive loss of memory and mental faculties in elderly people. It is important to identify the earliest evidence of AD and to monitor the development of this disease for us to make positive response to its management. Magnetic resonance imaging (MRI) is powerful to image the tissue or organ without damnification. MRI can be employed to diagnose the early AD development and monitor the key biomarker development in AD. MRI may be helpful not only in diagnosing early AD, but also in evaluating its development. This article reviews the progress of MRI on the diagnosis and detection of AD, and makes comments on its therapeutic application.
Alzheimer Disease ; diagnosis ; metabolism ; pathology ; therapy ; Animals ; Atrophy ; Biomarkers ; metabolism ; Humans ; Magnetic Resonance Imaging ; Metabolic Networks and Pathways

Adenocarcinoma ; metabolism ; pathology ; Atrophy ; Biomarkers ; metabolism ; Diagnosis, Differential ; Humans ; Male ; Prostate ; pathology ; Prostatic Diseases ; metabolism ; pathology ; Prostatic Hyperplasia ; metabolism ; pathology ; Prostatic Neoplasms ; metabolism ; pathology ; Prostatitis ; metabolism ; pathology ; Xanthomatosis ; metabolism ; pathology