Adenoma Malignum of Cervix – How Useful is Clinico- Radiological Diagnosis.

Adenoma malignum (AM) is a rare type of variant of cervical cancer. The entity remains silent because of common complaints of erratic menstrual cycles and leucorrhea in peri-menopausal age group of females. The imaging modalities play a great role in clinching the diagnosis before the final confirmation by histopathological examination. We present 60- years old post menopausal woman who reported to gynecology outpatient department with complaints of per vaginum bleeding and watery discharge of six months duration .She was evaluated by cross imaging modalities of ultrasound (US) ,color flow imaging(CFI) and magnetic resonance imaging (MRI) with working diagnosis of adenoma malignum of cervix..This was subsequently confirmed in histopathological examination. The importance of the case lies because of the early diagnosis by clinic-radiological evaluation in the light of poor prognosis and early dissemination of this entity.

Normal Functioning Pelvic Lump Kidney: Isolated Anomaly - Radiological Evaluation.

There is wide spectrum of Mullerian dysgenesis presenting in different ways. Routine ultrasound done of a child for pain abdomen discovered a pelvic mass supero-posterior to the urinary bladder. This was diagnosed as fused pelvic kidneys by various cross sectional imaging modalities like Computerized tomography (CT) and Magnetic resonance imaging (MRI).We present a 4-years male child who was diagnosed as a case of “lump kidneys” by plain sonography coupled with color flow imaging (CFI). The entity usually falls in the common group of VATER (vertebral, anorectal malformation, esophageal and renal) anomalies. But our present case was having isolated anomaly and this entity is of a great rarity as seen in literature.

Correlations of the CFI gene polymorphisms with age-related macular degeneration in Han Chinese population / 实用医学杂志

Objective To study the correlation of 5 polymorphisms of Han Chinese patients in Sichuan Province with age-related macular degeneration (AMD). Methods The blood samples from 384 Han Chinese patients diagnosed with AMD and another 384 matched controls were collected using case-control study method. The chosen gene single nucleotide polymorphisms (SNPs) were genotyped by SnaPShot classify technology in the patients with AMD and 384 controls of Chinese Han population. Results All of the 5 genetype frequencies of the SNPs were in accordance with Hardy-Weinberg Equilibrium (P > 0.05). There were no statistically significantdifferences between the AMD group and the control group in the rs13117504 G allele frequency (P = 0.037, OR=1.24, 95%CI:1.01~1.53), the rs10033900 C allele frequency (P=0.023, OR=1.27, 95%CI: 1.03 ~1.57) and the rs1003390 frequency in the AMD dominant model (P = 0.039, OR = 0.74, 95%CI: 0.55 ~ 0.99). There were no statistically significant differences between the groups in the rs6822976 A allele frequencies (P =0.158), the rs7438961 G allele frequencies (P = 0.798) and, the rs7671905 T allele frequency (P = 0.909). The rs10033900 in the recessive model of AMD had no significant difference as compared to that in the control group (P = 0.107). The two groups showed no significant differences in both the dominant and recessive model of AMD in terms of the frequencies of rs13117504, rs6822976, rs7438961 and rs7671905 (P > 0.05). Conclusion The rs13117504 and rs10033900 of SNPs near CFI gene upstream has significant association with age-related macular degeneration , while the rs6822976 , rs7438961 , rs7671905 of SNPs have no significant correlations with age-related macular degeneration in Han Chinese population.

CFI gene and atypical hemolytic uremic syndrome / 国际儿科学杂志

Mutations in CFI, mapped to 4q25 and encoding complement factor Ⅰ, are responsible for autosomal recessive atypical hemolytic uremic syndrome aHUS). Complement factor Ⅰ, a serine proteinase, plays a key role in inhibition of the amplification loop in alternative pathway. Most of mutations in the CFI gene identified in patients with aHUS are point mutations without large deletion ones. The patients with aHUS with CFI mutations, from 2 months to 32 years of age at disease onset, have a poor outcome. Approximate 70% of the patients have low levels of complement 3, and 69.6% of the cases progress to end-stage renal disease within 3 years. The risk of post-transplantation recurrences in the CFI-mutated patients is high.Therefore,detection of the CFI gene in the patients suffering from aHUS will be beneficial to making therapeutic decisions and predicting prognoses.