			Home About us Contact

HSP Patients (hsp + patient)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Role of PAX2 gene polymorphisms in Henoch,Schonlein purpura nephritis

NEPHROLOGY, Issue 1 2006
ZHU-WEN YI
SUMMARY: Objective: To investigate the distribution of polymorphisms in the PAX2 gene in children with Henoch,Schonlein purpura with and without nephritis (HSPN and HSP, respectively), with particular attention to the relationship between PAX2 gene polymorphisms and the development of kidney pathology. Methods: Genomic DNA was extracted from the peripheral leukocytes of 39 HSPN patients, 23 HSP patients without nephritis and 100 normal children, and three known single nucleotide polymorphisms (SNP), including 1410C>T, 1521A>C and 1544C>T in exon 8 and exon 9 of the PAX2 gene were studied as the candidate polymorphisms. The above two exons were amplified, the polymerase chain reaction (PCR) products were detected by denatured high-pressure liquid chromatography and direct DNA sequencing was performed for sequences with abnormal elution peaks. Results: In all samples confirmed by direct sequencing, we identified two SNP, which present as complete linkage haplotype 1410C>T + 1521A>C, in exon 8. We did not identify any SNP in exon 9. The frequency of the PAX2 heterozygous genotype 1410CT/1521AC in the HSPN group (28.20%) was significantly higher than in the HSP without HSPN group (4.35%) or in the control group (12.00%) (P < 0.05). The odds ratio (OR) values for HSPN and HSP were 6.05 and 2.62, respectively, and the 95% confidence intervals (CI) were 1.23,29.78 and 1.09,6.30, respectively. However, no differences in the frequency distribution was found between the HSP without nephritis and normal groups. Furthermore, there was no significant correlation between the polymorphism and clinical manifestation or kidney pathology in the HSPN group (P > 0.05). Conclusion: The 1410CT/1521AC PAX2 genotype does not increase susceptibility for HSP, but is likely to increase the susceptibility of kidney involvement, resulting in a HSPN diagnosis. [source]

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

NEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 6 2004
G. C. DeLuca
Hereditary spastic paraplegia (HSP) comprises a group of inherited neurodegenerative disorders with the shared characteristics of progressive weakness and spasticity predominantly affecting the lower limbs. Limited pathological accounts have described a ,dying back' axonal degeneration in this disease. However, the distribution and extent of axonal loss has not been elucidated in a quantitative way. We have studied post-mortem material from six HSP patients and 32 controls in detail. The population of axons was examined quantitatively in the corticospinal tracts from the medulla to the lumbar spinal cord and the sensory tracts from the lumbar to upper cervical spinal cord. Myelin and axon-stained sections were employed to estimate the notional area and axonal density, respectively, of both tracts. Our results indicate that in the corticospinal tracts there is a significant reduction in area and axonal density at all levels investigated in HSP compared to controls. In the corticospinal tracts, the ratio of medulla and lumbar total axonal number was significantly greater in HSP cases compared to controls suggesting more pronounced axonal loss in the distal neuraxis in HSP than in controls. The sensory tracts in HSP, in contrast, showed a significant reduction in area and axonal density only in the upper regions of the spinal cord. Similar to the corticospinal tracts, the ratio of lumbar and upper cervical cord total axonal number in the sensory tracts was increased in HSP cases compared to controls. These findings are consistent with a length-dependent ,dying back' axonopathy. Nerve fibre loss was not size-selective with both small and large diameter fibres affected. In HSP, axonal loss is widespread and symmetrical and its extent tract-specific. The characterization of the nature of axonal loss in HSP, where this is a primary phenomenon, may help the interpretation of axonal loss in conditions such as multiple sclerosis where the sequence of events is less clear. [source]

Scrotal involvement in childhood Henoch-Schönlein purpura

ACTA PAEDIATRICA, Issue 4 2007
Tae-Sun Ha
Abstract Aim: Henoch-Schönlein purpura (HSP) is a common childhood systemic vasculitis involving the skin, gastrointestinal tract, joint, kidneys and even scrotum. Methods: We retrospectively reviewed the clinical and laboratory data of 120 male patients with HSP and also evaluated the risk factors for scrotal involvement and the relation between scrotal involvement and other clinical features. Twenty-six out of 120 boys (21.7%) diagnosed with HSP had scrotal involvement. Results: Scrotal symptoms manifested as swelling in 88.5% and pain (or tenderness) in 69.2% of HSP patients with scrotal involvement. Neurologic symptoms, mainly headache and localized edema among various manifestations and high serum C3 level of laboratory profiles were more frequently observed in scrotal-involved group than in those of non-involved group. However, there was no difference in the outcomes of scrotal symptoms according to therapeutic modalities and the occurrence of scrotal involvement had no correlation with renal involvement from acute to chronic phase. Conclusions: We found that neurologic symptoms, localized edema and high serum C3 level show a significant relation with scrotal involvement in male HSP patients. Because scrotal involvement in male HSP patients is not rare, the accurate early diagnosis of HSP is mandatory by the early notification of purpura and imaging evaluations in order to avoid unnecessary procedures. [source]