Simulation of normal, carrier and affected controls for large-scale genotyping of cattle for factor XI deficiency

An insertion mutation within exon 12 of the factor XI gene has been described in Holstein cattle. This has opened the prospect for large-scale screening of cattle using the polymerase chain reaction (PCR) technique for the rapid identification of heterozygous animals. To facilitate such a screening process, the mutant and normal alleles of factor XI gene, represented by 244- and 320-bp PCR amplified fragments, were individually cloned in Escherichia coli using a multicopy plasmid cloning vehicle to generate pFXI-N and pFXI-M, respectively. The authenticity of the inserts was confirmed by nucleotide sequencing. A nested PCR method was developed, by which PCR amplicons generated from primers with annealing sites on the recombinant plasmids and by flanking the insert were used as templates for amplification of the diagnostic products using factor XI gene-specific primers. An equimolar mixture of both PCR amplicons, originating from pFXI-N and pFXI-M, constituted the carrier control while the individual amplicons were the affected and normal controls. The controls were used as references for in-gel comparison to screen a population of 307 cattle and 259 water buffaloes; the frequency of the mutant allele was found to be 0. No DNA size standards were required in this study. The simulated control DNA samples representing normal, carrier and affected cattle have the potential to help in large-scale screening of a cattle population for individuals that are carriers or affected by factor XI deficiency.

Pachyonychia congenita-like nail changes treated successfully with a combination of vitamins A and E: a case report.

A 20-year-old man presented with thickening, subungual hyperkeratosis and discoloration of all the nails of both hands and both great toes since birth. No other ectodermal abnormalities were found. Treatment with vitamins A and E in high doses along with a moisturizing ointment topically for one year resulted in complete resolution of all nail abnormalities.

Topical 20% KOH--an effective therapeutic modality for moluscum contagiosum in children.

Topically 20% KOH aqueous solution once daily at bedtime was applied in 27 children having molluscum contagiosum by their parents, till lesions showed signs of inflammation or superficial ulceration. 24 children (88.9%) completed the trial and complete clearance was achieved after a mean period of 17 days. No recurrence was observed during follow up period. Thus in this open trial topical 20% KOH aqueous solution has proved to be convenient, easy to apply at home, safe and inexpensive alternative therapeutic modality for the treatment of molluscum contagiosum in children.

Pityriasis rosea unilateralis.

The classical pityriasis rosea presents with erythematous papulosquamous lesions. It has got many clinical and morphological variants. Pityriasis rosea unilateralis is very rare variant of pityriasis rosea. We are reporting two cases of unilateral pityriasis rosea.

Congenital melanocytic nevus studded with strawberry haemangioma on the scalp.

A six-month-old male infant presented with congenital melanocytic nevus (CMN) studded with strawberry haemangioma on the right side of scalp since birth. Both lesions were gradually increasing up to the present size. The case is being reported for its rare occurrence.

Giant hairy 'bathing trunk' naevus with multiple congenital melanocytic naevi.

A 23-day-old male infant had hairy 'bathing trunk' naevus covering, neck and upper trunk along with multiple congenital melanocytic naevi scattered all over the body.

A study of behavioural changes and clinical evaluation of leprosy in school going children of leprosy parents.

Seventy-seven school going children in age group 5-15 years having one or both parents affected with leprosy and staying away from their parents in charitable ashram cum school for the last 6 months to 6 years time were examined for any behavioural changes and signs and symptoms of leprosy. None of these children showed any behavioural changes or signs and symptoms of leprosy.

Skin grafting in chronic leg ulcers--a dermatologist's domain.

A case of chronic leg ulcer for the last two years in a 50-year-old male, not responding to conventional therapeutic modalities had shown faster healing and excellent cosmetic results by undertaking split skin thickness grafting in the hands of a dermatologist.

Bilateral herpes--Zoster of widely separated dermatomes in a non-immunocompromised female.

Herpes zoster involving simultaneously left maxillary dermatome and right 2nd lumbar dermatome in a non-immunocopromised 24-year-old female is being reported due to its rarity.

Intraoral giant condyloma acuminatum.

A case of intraoral giant condyloma acuminatum is reported in a 50- year- old Indian. He did not respond to topical application of podophyllin 20% but responded partially to electric cauterisation. Surgical excision was done to get rid of the warty growth completely. Since there were no skin or genital lesions and no history of marital or extramarital sexual contact the lesion was probably acquired from environmental sources. Nonsexual transmission should be considered especially when the lesions are extragenital.

Chemical peeling--evaluation of glycolic acid in varying concentrations and time intervals.

Thirty-one patients with melasma, 4 with superficial post acne scarring and one each with xeroderma pigmentosum and epidermal naevus were studied to know the efficacy of glycolic acid for chemical peeling in varying concentrations and time intervals such as 35% (4 minutes), 52.5% (3 minutes), 70% (2 minutes) at varying intervals upto 6 months. These patients were in the age group of 17-44 years. These patients were followed up regularly. Results showed significant improvement when peeling was done with 52.5% glycolic acid for 3 minutes in melasma, 70% glycolic acid for 2 minutes in superficial post acne scarring.

Lipid-lowering efficacy of psyllium hydrophilic mucilloid in non insulin dependent diabetes mellitus with hyperlipidaemia.

The effect of the administration of 3.5 g of psyllium husk twice daily for 90 days was investigated in 24 patients of non insulin dependent diabetes mellitus (NIDDM) with hyperlipidaemia. After 90 days of treatment, psyllium was withdrawn and the patients were followed up for a further 90 days. Psyllium significantly decreased the levels of total cholesterol (TC; 19.7%), low-density lipoprotein cholesterol (LDL-C; 23.7%), triglycerides (TG; 27.2%) and the ratio of LDL-C to high-density lipoprotein cholesterol (HDL-C; 24.1%) and the lowering was sustained even up to 90 days after cessation of treatment. The level of HDL-C also showed a significant increase of 15.8 per cent but this effect was not sustained after cessation of treatment. The compliance was very good and no adverse effects were observed. This study indicated that psyllium husk is an effective and well tolerated adjunct to diet for the treatment of mild to moderate hyperlipidaemia in NIDDM patients.

Role of H-reflex latency studies in the diagnosis of subclinical diabetic neuropathy.

Motor conduction velocity (MCV) in the median, ulnar and peroneal nerves and H-reflex studies have been conducted in 50 diabetics aged 20-65 years and 25 controls. MCV in the upper limb was below the normal range in 16% of diabetics. 28% diabetics showed abnormal MCV in the peroneal nerve. H-reflex abnormality consisting of either prolonged latency or its complete absence could be observed in 54% of diabetics. The results indicate the greater sensitivity of H-reflex in the detection of sub-clinical diabetic neuropathy. Greater prevalence of neuropathy in the early onset diabetes than in the late onset type is also suggested.