The association of t (13q, 14q) with Down’s syndrome and its inheritance

Cytogenetic analysis of the first child of an older couple afflicted with Down’s syndrome revealed a Robertsonian translocation between the chromosomes 13, 14 in addition to trisomy 21. His mother was found to be a carrier of this translocation with no history of abortion.     

Serum copper levels in carcinoma of ovary and cervix

The role of serum copper level (SCL) as a diagnostic and prognostic tool in genital tract malignancies was evaluated. SCL was employed as a marker for response to treatment (surgical/radiotherapy). 129 women attending gynaecology outpatient department or admitted in the gynecology ward were studied. Of these 77 patients in the disease (study) group were proven cases of genital tract malignancies and 52 served as controls. Outcome measures studied were: SCL levels estimated before initiation of any treatment i.e. surgery/radiotherapy; thereafter, at two weeks after completion of treatment. Follow up of the study subjects was done between 4-8 weeks and 8-10 weeks, when the patients were evaluated for any recurrence of disease and SCLs were also estimated. Kruskal-Wallis one-way analysis of variance determined whether values varied significantly among the different groups studied. Mean SCLs were found to be significantly elevated in cases of Ca ovary (n = 15), early CaCx (n = 14) and late CaCx (n = 48), as compared to the control group, comprising of women with no signs and symptoms of malignancy (n = 52). SCLs decreases significantly (P < 0.001) after treatment of Ca ovary and CaCx. These results indicate a possible clinical usefulness of estimating serum copper levels in women with genital tract cancer and suggest a role for SCL in the evaluation of the disease activity and as a prognostic tool in the management of genital malignancies.     

Pre-operative embolization of auricular arteriovenous fistula

Treatment of auricular arteriovenous fistula (AVF) is a challenge with surgery being the preferred option until now. We present three cases of auricular AVFs who underwent pre-operative embolization and its outcome on surgery. Three patients were diagnosed to have auricular AVF by angiography. All three patients underwent pre-operative embolization with n-butyl 2-cyanoacrylate after which they underwent surgical resection of the AVF. Pre-operative embolization resulted in significant devascularization of the AVF thus leading to near bloodless and clean surgery. Pre-operative embolization of auricular AVFs is a good treatment option, leading to significantly reduced blood loss during surgical excision.     

Parent-infant relationship global assessment scale: a study of its predictive validity

The Parent-Infant Relationship Global Assessment Scale (PIRGAS; Zero to Three, 1994) provides a continuously distributed scale of infant-parent relationship adaptation, raging from 'well-adapted' to 'dangerously impaired'. The present study examines the predictive validity of the PIRGAS in a high-risk sample by coding relationship adaptation level from a single sample of 10 min of unstructured free play between mothers and their 20-month-old infants and examining its relationship to subsequent interaction with mothers and behavior problems at 24 months. Relationship adaptation assessed reliably from observations of only 10 min of free play between mothers and their infants at 20 months of age using PIRGAS predicted subsequent mother- infant interaction in a laboratory based problem-solving paradigm (Crowell procedure) at 24 months and internalizing symptomatology of Child Behavior Checklist at age 24 months. These results contribute to the predictive validity of the PIRGAS as a measure of mother-infant relationship adaptation.     

Antineoplastic activity of Solidago virgaurea on prostatic tumor cells in an SCID mouse model

Solidago virgaurea (goldenrod) has traditionally been used as an anti-inflammatory herbal medicine for the treatment of various symptoms, including prostatic diseases. The plant has also been reported to have antibacterial, spasmolytic, and carminative properties. During the course of our screening for antineoplastic activities in various herbal plants, we found that the extract of S. virgaurea exhibits strong cytotoxic activities on various tumor cell lines. The active component mostly resides in the leaves of the plant and is soluble in water. When the extract was fractionated by a Sephadex G-100 column, the active fraction corresponded to a molecular weight of approximately 40,000. This cytotoxic activity is effective on various tumor cell lines, including human prostate (PC3), breast (MDA435), melanoma (C8161), and small cell lung carcinoma (H520). To examine the effect of the cytotoxic activity on tumor cells in vivo, we used the rat prostate cell line (AT6.1) and an SCID mouse model. AT6.1 cells were injected into the flank of SCID mice, and then the G-100 fraction of S. virgaurea was administered intraperitoneally or subcutaneously every 3 days. The size of the tumor was measured for up to 25 days. The growth of the tumor was significantly suppressed by the G-100 fraction at 5 mg/kg without any apparent side effects. Therefore, S. virgaurea is considered to be promising as an antineoplastic medicine with minimal toxicities.     

Conformational diversity of T-kinin in DMSO, water and HFA

T-kinin (Ile-Ser-BK) is related to BK in its biological profile, but unlike BK, is more resistant to the action of ACE. A detailed NMR and molecular modeling study of T-kinin has been carried out in three diverse media: water (pH 4.0), DMSO-d(6) and HFA solution. In DMSO-d(6), T-kinin adopts a structure with two tandem beta-turns: the first at the mid segment tetrad Pro(4)-Pro(5)-Gly(6)-Phe(7) (type I) and the C-terminal end Ser(8)-Pro(9)-Phe(10)-Arg(11) harbors the second turn (also type I). While the first beta-turn is lost in presence of water, the second persists. In HFA, NMR reveals a alpha-helix like structure spanning residues Arg(3) to Arg(11). Structures with cis peptide bonds (XX-Pro) have been observed for T-kinin in DMSO-d(6) but not in water and HFA. Differences in the structures of BK and T-kinin in water may explain their susceptibility/resistance to the action of ACE.     

A study from Nepal showing no correlation between lichen planus and hepatitis B and C viruses

A total number of 86 cases of Lichen planus (LP) were seen over a period of one and a half years. This constituted 0.58% of 14,833 new dermatological patients seen. Hepatitis B and C viral (HBV & HCV) serology was carried out in 64 patients and 43 age and sex matched controls. In the examined patients, 35 (54.27%) had the skin lesions only. Oral lesions were present in 15 (23.4%) of the patients in addition to skin lesions, while 14 (21.9%) had only oral involvement. Serology for HBsAg and HCV was negative in all types of LP patients and the controls. In Nepal, HBV and HCV seem to be not important in the pathogenesis of LP.     

Kikuchi — Fujimoto disease

Kikuchi — fujimoto disease also known as histiocytic necrotizing lymphadenitis is an idiopathic benign self limiting condition with a favourable outcome, usually affecting young women. The following cases have burn reported for clinical interest and for the rarity of the reports about this condition in ENT literature. In our series, we had 2 female patients aged 18 years and 25 years respectively and a male patient aged 45 years, presenting with fever, bilateral tender multiple cervical adenopathy including posterior triangle nodes not responding to routine antibiotics and anti-inflammatory drug treatment. ENT findings were within normal limits. Routine clinical investigations were within normal limits except for the raised ESR. Biopsy from one of the enlarged glands revealed necrotizing lymphadenitis. All the patients subsequently showed significant improvement locally in the neck and systemically without any further active treatment.