X-linked congenital nystagmus: a problem in genetic counseling.

A pedigree with X-linked congenital nystagmus is presented. A mother wished information about prenatal sex determination. The large number of clinically affected female heterozygotes in the pedigree illustrates a potential problem in genetic counseling for this condition and possibly other X-linked disorders which affect the eye.     

The detection of Delta9-tetrahydrocannabinol (THC) and 11-nor-9-carboxy-Delta9-tetrahydrocannabinol (THCA) in whole blood using two-dimensional gas chromatography and EI-mass spectrometry

A method is described for the simultaneous analysis of Delta(9)-tetrahydrocannabinol (THC) and its carboxylic acid metabolite, 11-nor-9-carboxy-Delta(9)-tetrahydrocannabinol (THCA) as their trimethylsiyl derivatives using 2-dimensional chromatography and electron ionization-mass spectrometric detection. The addition of a Deans switch to a standard GC oven allows the use of two chromatographic columns of differing stationary phase to greatly reduce matrix interference. The analytes are extracted from 1 mL of whole blood by first precipitating the blood proteins with the addition of acetonitrile followed by solid-phase extraction. The limit of quantitation for both THC and THCA was determined to be 1.0 ng/mL. The between-run precision at 1.0 ng/mL (N = 30) was 7.7% and 7.4% for THC and THCA, respectively. The method is linear from 1 to 100 ng/mL.     

Misoprostol as aid in First Trimester MTP

Background

Medical Termination of Pregnancy (MTP) is a commonly performed during the first trimester. Dilatation and Evacuation (D & E) mandates rapid dilatation of cervix with metal dilators, which requires anaesthesia and may be associated with trauma to the uterus, cervix and later cervical incompetence. The problem of rapid cervical dilatation is obviated with intravaginal misoprostol.

Methods

Intravaginal misoprostol tablet 200 microgram was inserted, a night prior to MTP to ripen the cervix. Cervix was dilated with metal dilators only in cases where cervix did not loosen up sufficiently. Products of conception were removed by suction.

Results

Out of 108 cases cervical dilatation was not required in 96 cases (88.9%).

Conclusion

Intravaginal misoprostol 200 microgram proved effective as a priming agent prior to MTP in the first trimester.Key Words: Misoprostol, MTP     

A Comparative Study of Laparoscopic with Conventional Open Donor Nephrectomy in Renal Transplantation

Background

Laparoscopic donor nephrectomy (LDN) has been gaining popularity among kidney donors. There have been concerns about the safety and efficacy of the procedure as compared to open donor nephrectomy (ODN). We compare our results on LDN with ODN.

Methods

We retrospectively analysed our data of LDN and ODN. Duration of surgery, blood loss, period of hospitalisation, per oral intake and analgesic requirements.

Result

22 LDNs were done, the operation time ranged from 220-300 minutes, and blood loss from 100-150ml. In the first 10 laparoscopic operations four cases required conversion to open surgical dissection. Only one case was converted to open surgery in the subsequent 12 laparoscopic cases. Oral intake was started on the first postoperative day. Analgesic requirement in laparoscopy cases was less. Patients were mobilised on the first day after surgery. Patients were discharged by seventh day. There was no significant difference in the functioning of the graft after revascularisation in the recipient.

Conclusion

Laparoscopic donor nephrectomy is a safe and effective technique of donor nephrectomy.Key Words: Laparoscopy, Laparoscopic donor nephrectomy, Living kidney donors, Kidney transplantation     

Evaluation of Suspected Monoclonal Gammopathies: Experience in a Tertiary Care Hospital

Background

Monoclonal gammopathies occurs in patients with malignant diseases of plasma cells and lymphocytes and in few benign conditions. The objective of this study was to assess the precision, accuracy and confirmation of monoclonal gammopathies on serum protein electrophoresis (SPE) and the clinical relevance of detection and characterization of M component.

Methods

All samples received for serum electrophoresis in the last 3 years were analysed for data on M band positivity and correlating it with clinical profile of the patients. Immunofixation (IFE), Immunoelectrophoresis (IEP) and IgG, IgM estimation were carried out in few cases. The follow up of cases was done by serial monitoring of SPE and β₂ microglobulin levels.

Results

1155 samples were received during the 3 years period. 282 (24.4%) samples were positive for M component on SPE. Of these, 239 (84.8%) patients had M spike in λ region and 43 patients had M spike in β region. The mean load of the M protein band in the λ region was 37.8% and in β region was 35.8%. IgG with κ chain was seen in 40%, IgG with λ chain was seen in 50%, 5% patients each had IgM with κ and IgA with λ light chain. 246 samples (96.5%) had high levels of β₂ microglobulin. Of the 116 cases of multiple myeloma, IgG levels was more commonly raised (5%) as compared to IgA (6.9%) and IgM (5.2%).

Conclusion

It is recommended that SPE should be performed in patients having unexplained weakness, anaemia, back pain, osteoporosis, osteolytic lesions, fractures, renal insufficiency or recurrent infections.Key Words: Serum protein, Electrophoresis, M band, Multiple myeloma     

Rapid serological technique for typing herpes simplex viruses.

A rapid technique is described which can accurately identify a herpes simplex virus (HSV) isolate as type 1 or type 2. Filter paper disks were used to immobilize viral antigens, which were then identified by means of an (125)I-labeled staphylococcal protein A immunoassay. The assay was performed in a specially designed 96-well filtration device which served as both an incubation chamber and a filter manifold. By using this system and cross-absorbed antisera to HSV types 1 and 2, 69 coded clinical isolates of HSV were correctly and unequivocally typed. HSV was also clearly distinguished from varicella-zoster virus and cytomegalovirus. This assay can be rapidly executed (less than 2 h) and yielded an objective endpoint; it required only minute quantities of typing sera and can be easily performed with the cells from a single infected roller tube culture. Thus, it can be used to type initial clinical isolates of HSV, yielding results within hours after the first appearance of cytopathic effects in the culture used for primary virus isolation. Moreover, it is particularly well suited to the simultaneous analysis of many specimens and is amenable to automation. These characteristics suggest that this (125)I-labeled staphylococcal protein A immunofiltration technique will be applicable to the rapid identification of other herpesviruses, as well as other clinical isolates.