Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2). We studied a family which included a female patient with NDI with symptoms dating from infancy. The patient responded to large doses of desmopressin (dDAVP) which decreased urine volume from 10 to 4 I/day. Neither the parents nor the three sisters were polyuric. The patient was found to be a compound heterozygote for two novel recessive point mutations in the aquaporin-2 (AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is the site for inhibition of water permeation by mercurial compounds and is located near to the NPA motif conserved in all aquaporins. Osmotic water permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2 was not increased over water control, while expression of L22V cRNA increased the Pf to approximately 60% of that for wild-type AQP2. Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO cells showed that the C181W mutant had an endoplasmic reticulum-like intracellular distribution, whereas L22V and wild-type AQP2 showed endosome and plasma membrane staining. Water permeability assays showed a high Pf in cells expressing wild-type and L22V AQP2. This study indicates that AQP2 mutations can confer partially responsive NDI.      

Pulmonary edema in renal transplant patients

A syndrome heralded by fever, deterioration of graft function, respiratory failure accompanied by pulmonary infiltrates has been termed "transplant lung." We hemodynamically studied eight such patients. At the height of their illness, pulmonary artery wedge pressure (PAWP) was elevated to 19.3 +/- 2.6 mm Hg along with mean pulmonary artery pressure (PAP) of 35.0 +/- 3.8 mm Hg in presence of increased cardiac index (CI) of 4.9 +/- 0.9 L.m2.min. Pathophysiology of pulmonary edema appears to include high left ventricular filling pressures, pulmonary hypertension, alterations of oncotic hydrostatic gradient, and increased cardiac output. A partial reversal of pulmonary hypertension was observed with dialysis or diuresis. Our data suggest incipient renal failure and fluid accumulation as the etiology of hemodynamic pulmonary edema in "transplant lung."     

Cardiopulmonary resuscitation in hospitalized patients: continuing problems of decision-making

Disturbingly low survival rates after CPR prompted us to carry out a series of studies. Of 272 patients receiving CPR at our 600-bed community hospital in 1984, 102 (37.5%) patients survived initial resuscitation and 30 (11%) survived their hospitalization. Of the 102 initial survivors, only 15 patients had received full CPR including cardiac compression and/or defibrillation, endotracheal intubation, and cardiotonic drugs. These data were compared with those for 129 patients admitted to our critical care units in 1982 and 1983 in whom CPR was withheld. These patients had been designated "No CPR" primarily because of their poor response to therapy. There was an 11% survival rate for patients who had received CPR compared to a 16% survival rate for the "No CPR" group. These data suggest that criteria for administering CPR to hospitalized patients should be improved.     

India's needs and priorities in fertility regulation research

This article evaluates the needs and priorities of India in fertility regulation research. There are multivariate factors that affect the perceptions of people about fertility regulation in India. The socioeconomic status, level of education and religious beliefs have strong influences on their decision on the family size, spacing between children and also the sex of the children. Moreover, a large number of people are either quite ignorant of or cannot afford to avail with the technologies and services for controlling their fertility. These factors generally perpetuate high fertility, which strongly affect the infant and maternal mortality, and eventually the quality of life both for the present and the future generation. The International Conference on Population and Development Program of Action has provided India with an alternative to develop newer methods of fertility regulation so as to widen contraceptive choices. The objective of research in fertility regulation should ensure the fertility control of couples and ability to plan the number and spacing of children. Research in fertility regulation should be aimed at expanding contraceptive choices by improving the accessibility and acceptability of good quality contraceptive products and services. It would necessitate: improving the quality of care; increasing awareness about sexuality and fertility regulation; empowering women; and increasing male-female partnership in sharing responsibilities for family planning and parenthood.     

Management of ocular perforations resulting from peribulbar anaesthesia

PURPOSE: To analyze the clinical presentation and outcome of treatment for globe perforation secondary to peri-bulbar anaesthesia. METHODS: Eight patients (3 females and 5 males) aged 66-84 years were included in the study. Ocular perforations were suspected in 3 cases before or during surgery, in 4 cases diagnosis was established within one week and in one case at 3 weeks. Three patients underwent indirect argon laser photocoagulation to seal the retinal break, one patient had cryotherapy, 3 patients underwent a pars plana vitrectomy with fluid gas exchange and endo-laser; and one patient refused any further treatment. RESULTS: The final visual acuity after a mean follow up of 14 months was better than 6/9 in 2 patients, between 6/9-6/12 in 4 patients, and perception of light in 2 patients. CONCLUSION: If diagnosed early and treated adequately, a majority of patients with globe perforation during periocular anaesthetic could be saved.     

Lichen planus and lupus erythematosus overlap syndrome

A 45-year-old woman with livid plaques showing central atrophy and erythematous vesicular borders over both dorsa of feet and buttocks, and follicular and papular lesions over buttocks and lumbar area, was difficult to diagnose as either lichen planus (LP) or lupus erythematosus (LE). The histological studies from two places showed features of both LE and LP. Laboratory findings were within normal limits first, but follow up studies for two years showed persistent albuminurea, leucopenia, arthritis and erythema over the exposed areas with same histology suggesting that eruption may be an unusual variant of LE.     

Immunostimulant Activity of Picroliv, the Iridoid Glycoside Fraction of Picrorhiza kurroa, and its Protective Action against Leishmania donovani Infection in Hamsters1

Picroliv, a standardised fraction from root and rhizome of Picrorhiza kurroa, consisting of iridoid glycosides and shown to be responsible for its hepatoprotective activity, was studied for immunostimulant activity. Oral administration of Picroliv (10 mg/kg x 7 days) in mice prior to immunization with sheep red blood cells (SRBC) resulted in a significant increase in haemagglutinating antibody (HA) titre, plaque forming cells (PFC), and delayed hypersensitivity (DTH) response to SRBC. Picroliv enhanced the non-specific immune response characterized by an increase in macrophage migration index (MMI), [14C]-glucosamine uptake, phagocytosis of [14C]-leucine labelled Escherichia coli, chemiluminescence of peritoneal macrophages, and higher uptake of [3H]-thymidine in the lymphocytes of treated mice. It also induced a high degree of protection in golden hamsters against challenge infection with Leishmania donovani promastigotes.     

Hamartoma of the Face

Hamartomas are tumour like malformations which are due to a developmental anomaly. They are most commonly seen in the spleen, lungs, liver and kidney, they are rare in the head and neck region. A rare case of Hamartoma of the soft tissues of the face in a 13 year old boy is reported.