Regions of homozygosity and a novel variant in Steel syndrome: An added dilemma to diagnosis.

Steel syndrome is an autosomal recessive disorder that is caused by mutations in COL27A1 gene. The majority of reported cases have been of Puerto Rican origin, with few reports from India. The present case adds to the repertoire of homozygous recessive disorders from non-consanguineous Indian families. With the present case, a 4-year-old girl, we wish to signify that although mutations in several genes are known to cause skeletal abnormalities, identification of underlying mutations is important as it not only helps with the ascertainment of diagnosis but also aids in determining the role of surgical interventions which is particularly true for Steel syndrome, where the outcome of surgical intervention is usually dismal.

Pallister-Killian syndrome: Review of fetal phenotype.

Pallister-Killian syndrome is a multi-system sporadic disorder with developmental delay. It is a rare chromosomal abnormality involving supernumerary isochormosome 12p. The disorder exhibits tissue specific mosaicism. The first prenatal diagnosis of PKS was reported in 1985 after ultrasound detection of fetal anomalies. Since this observation, there have been about 62 reports of fetuses with PKS. In this review, we cover the prenatal aspects of PKS.

Remote sensing study on geomorphological degradation of Sarda Sagar reservoir.

An attempt was made to estimate the geomorphological degradation due to sedimentation of Sarda Sagar reservoir, located in Pilibhit and Udhamsingh Nagar, district of Uttar Pradash and Uttarakhand respectively. The study was conducted using multidated IRS LIISS III remote sensing data for the year 2006-2007. Using satellite images of different seasons during 2006-2007, a total of 45.23 million m3 volume of sedimentation was computed in-between the 183.704 m and 190.504 m elevation. The reservoir has lost 11.72 % of the total capacity of water storage and an average rate of sedimentation was calculated as 0.26 % per year. Due to this sedimentation the new feeder channel of Sarda Sagar is choked with silt and the water flow from this channel has almost stopped. The morphology of the reservoir has been changed due to sedimentation during the period 1962 to 2007. This has altered breeding ground of fishes since important indigenous fish species which need flowing water condition to perform the breeding. This study would be helpful for the planners to manage the reservoir and to assess the biological productivity.

Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.

Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clinical and radiological profile of a patient with this rare disorder. A novel heterozygous variant was identified in the AMER1 gene which leads to premature truncation of the AMER1 protein. Facial gestalt recognition using artificial intelligence and radiographic features were used to narrow the differential diagnosis.

Statin intolerance: now a solved problem.

Statins are the most effective and widely used drugs for treating dyslipidemia, a major risk factor for coronary heart disease. These are one of the safest hypolipidemic drugs but many patients are bound to discontinue statins due to their side effects. Hepatotoxicity, myotoxicity and peripheral neuropathy are important out of them. Discontinuation of statins leads to dylipidemia and its grave consequences. Hence, there should be enough strategies for statin intolerant patients, so that they can be saved from these consequences. These side effects can be avoided by the awareness of certain factors viz. potential drug interactions and dose adjustment according to patho-physiology of the patient. Baseline investigations for liver function and muscle toxicity should be done before initiating statin therapy. Here, we are discussing various options for statin intolerant hyperlipidemic patients such as lower and intermittent dosing of statins, alternate hypolipidemic drugs, red yeast rice, supplementation with coenzyme Q10 and vitamin D. A number of hypolipidemic drugs are in trial phases and hold promise for statin intolerant patients.

Synthesis and antibacterial activity of various substituted oxadiazole derivatives.

Some new 2-(2-(4(4-substitutedbenzoyl-2-methylphenoxy)acetyl)-N-(2-substitutedphenyl) hydrazinecarbothioamides (4a-4j) and (4-((5-(2-substitutedphenylamino)-1,3,4-oxadiazol-2-yl)methoxy)-3-substitutedphenyl)(phenyl)methanones (5a-5j) have been synthesized from 2-(4-(3-substitutedbenzoyl)-2-methylphenoxy)acetohydrazides (3a, 3b). These newly synthesized compounds (4a-4j and 5a-5j) were characterized by elemental and spectral (IR, (1)H-NMR and MS) analysis. All the synthesized compounds have been screened for their antibacterial activity against both types of Gram negative and Gram positive bacteria. The most potent antibacterial compound of this series was compound 5i which has the low MIC 3.75-0.9375 µg/mL value. Both minimal inhibitory concentration (MIC) and inhibition zones were determined in order to monitor the efficacy of the synthesized compounds. Certain compounds inhibit bacterial growth with low MIC (µg/mL) value.

Role of magnetic resonance imaging in breast cancer management.

Magnetic resonance imaging (MRI) of the breast is primarily used as a supplemental tool to breast screening with mammography or ultrasound. A breast MRI is mainly used for women who have been diagnosed with breast cancer, to help measure the size of the cancer, look for other tumors in the breast, and to check for tumors in the opposite breast. For certain women at high risk for breast cancer, a screening MRI is recommended along with a yearly mammogram. MRI is known to give some false positive results which mean more test and/or biopsies for the patient. Thus, although breast MRI is useful for women at high risk, it is rarely recommended as a screening test for women at average risk of breast cancer. Also, breast MRI does not show calcium deposits, known as micro-calcifications which can be a sign of breast cancer.

Limnological investigations of Texi Temple pond in district Etawah (U.P.).

Present investigations were carried out on the limnological aspects of Texi temple pond in district Etawah. Many of the parameters were found below the permissible limits for drinking water as suggested by WHO. A total of 18 parameters were analysed and their seasonal variations in the year 2003 were discussed.

Synthesis and anticonvulsant activity of some potential thiazolidinonyl 2-oxo/thiobarbituric acids.

A series of 5-[(N-substituted benzylidenylimino)amino]-2-oxo/thiobarbituric acids (3a-3h) have been synthesized by the condensation of 5-hydrazino-2-oxo/thiobarbituric acids (2a-2b) with various aromatic aldehydes. Cycloaddition of thioglycolic acid to 3a-3h, yielded 5-[(2'-substituted phenyl-4'-oxothiazolidin-3'-yl)amino]-2-oxo/thiobarbituric acids (4a-4h). All these compounds were screened, in vivo, for their anticonvulsant activity and acute toxicity studies. Compounds 4f and 4g were found to be most potent compounds of this series and were compared with the reference drugs, phenytoin sodium, lamotrigine and sodium valproate. The structures of these compounds have been established by IR, 1H NMR and mass spectroscopic data.

Hepatoprotective activity of Beta vulgaris against CCl4-induced hepatic injury in rats.

Ethanolic extract of Beta vulgaris roots given orally at doses of 1000, 2000 and 4000 mg/kg exhibited significant dose-dependent hepatoprotective activity against carbontetrachloride (CCl(4))-induced hepatotoxicity in rats. Hepatotoxicity and its prevention were assessed by serum markers viz. cholesterol, triglyceride, alanine amino transferase and alkaline phosphatase.

The effect of levamisole and albendazole on some enzymes of Ascaridia galli and Heterakis gallinae.

Ascaridia galli and Heterakis gallinae obtained from the common fowl Gallus gallus were exposed to 10(-2)-10(-5)M levamisole and albendazole; both compounds caused death of the parasites in vitro. The effect of the drugs was investigated on homogenates of the treated worms. Albendazole, at 10(-2)M, inhibited oxaloacetate reduction by 67 and 53% and malate oxidation by 21 and 17% in A. galli and H. gallinae, respectively, whereas 10(-4)M levamisole completely inhibited malate dehydrogenase activity in both directions in the two parasites. Lactate dehydrogenase was not affected significantly by either anthelmintic. Aldolase activity was diminished by 57 and 32% in A. galli and H. gallinae, respectively, with 10(-4)M levamisole. Levamisole at 10(-4)M also inhibited the activity of acid and alkaline phosphomonoesterase and cholinesterase. Albendazole had no significant effect on these enzymes in either parasite. Malate dehydrogenase and cholinesterase activity of the host tissue (intestine and caecum) was also reduced significantly with 10(-2) and 10(-3)M levamisole. These studies indicated a multiple mode of action of levamisole and albendazole.

Effect of parbendazole and piperazine adipate on the activity of some enzymes of Ascaridia galli and Heterakis gallinae.

Adult Ascaridia galli and Heterakis gallinae obtained from the fowl (Gallus gallus) were treated in vitro with 10(-2) to 10(-5) M parbendazole and piperazine adipate for 10-60 min at 38 degrees C. Both the compounds at 10(-2) M caused mortality of A. galli and H. gallinae after a maximum of 30 min exposure. The effect of the drugs on the homogenates of the treated worm was investigated. Parbendazole (10(-2) M) inhibited malate oxidation by 68% in A. galli and 62% in H. gallinae. Piperazine adipate (10(-2) M) inhibited malate oxidation by 78% in both parasites. In A. galli oxaloacetate reduction was inhibited by 41 and 26% by 10(-2) M parbendazole and piperazine adipate, respectively; with H. gallinae this inhibition was found to be 39 and 55%, respectively. Aldolase activity in both the parasites was also inhibited by 10(-2) M parbendazole and piperazine adipate. Both compounds caused an inhibition of acid phosphomonoesterase activity, but the activities of lactate dehydrogenase and alkaline phosphomonoesterase were not affected significantly. Parbendazole (10(-2) M) had no significant effect on the cholinesterase activity of these parasites, but piperazine adipate (10(-2) M) caused an inhibition of 96% in A. galli and 93% in H. gallinae. The possible mode of action of the drugs is discussed.

Analgesic, antipyretic and ulcerogenic activity of Nyctanthes arbor tristis leaf extract.

The leaves of Nyctanthes arbor tristis, besides being used in the treatment of sciatica and arthritis, are advocated for various kinds of fevers and painful conditions by the Ayurvedic physicians. In the present study, the water-soluble portion of an ethanol extract of the leaves was screened for analgesic, antipyretic and ulcerogenic activities. The extract exhibited significant aspirin-like antinociceptive activity but failed to produce morphine-like analgesia. It was also found to possess antipyretic activity against brewer's yeast-induced pyrexia in rats. The extract also produced gastric ulcers following oral administration for six consecutive days in rats. Results of the present study tend to substantiate the use of this plant in fevers and painful conditions by Ayurvedic physicians.

Study of anti-inflammatory activity in the leaves of Nyctanthes arbor tristis Linn.--an Indian medicinal plant.

Nyctanthes arbor tristis Linn. (Harsingar) is widely used as a decoction in the Ayurvedic system of medicine for treatment of sciatica and arthritis, but it has not yet been screened scientifically. In the present study, the water soluble portion of the alcoholic extract of the leaves of Nyctanthes arbor tristis (NAT) was screened for the presence of anti-inflammatory activity. NAT inhibited the acute inflammatory oedema produced by different phlogistic agents, viz. carrageenin, formalin, histamine, 5-hydroxytryptamine and hyaluronidase in the hindpaw of rats. The acute inflammatory swelling in the knee joint of rats induced by turpentine oil was also significantly reduced. In subacute models, NAT was found to check granulation tissue formation significantly in the granuloma pouch and cotton pellet test. Acute and chronic phases of formaldehyde induced arthritis were significantly inhibited. NAT was also found to inhibit the inflammation produced by immunological methods, viz. Freund's adjuvant arthritis and PPD induced tuberculin reaction. Thus anti-inflammatory activity in leaves of Harsingar supports its use in various inflammatory conditions by the followers of the Ayurvedic system of medicine.

Topical amiloride solution accelerates healing of mechanical skin ulcers in albino rats.

The present investigation was undertaken to explore the ulcer healing properties of three dosage schedules of various concentrations of topically administered amiloride solution in mechanically produced skin ulcers in albino rats. Four skin ulcers (two on either side of the midline) were made 2.5 cm apart on the preshaved back of each anesthetized rat with a round body skin biopsy punch (7 mm diameter) through the dermis to the depth of subcutaneous tissue. The animals were randomly divided into groups of 5 rats each. Ulcers on one side of the midline were treated with normal saline and served as control, whereas those on the other side were treated with amiloride solutions. Each ulcer was observed for its size, slough formation and any sign of irritation on alternate days until healing was complete. Healing of ulcers was significantly accelerated with all the strengths of amiloride (0.01, 0.02 and 0.04%) in all the dosage schedules (o.d., b.i.d. and q.i.d.) in terms of days required for complete healing, ulcer size and area under the size-time curve. This acceleration was dose-dependent with maximum effect at b.i.d. administration of 0.04% solution. No irritation or suppression of immunity was noticeable. Thus topical amiloride may prove to be an inexpensive and better ulcer healing agent with no apparent side effects. Inhibition of u-PA by amiloride seems to be responsible for this effect.

Sizing of balloons in balloon mitral valvotomy.

In twenty six consecutive patients who underwent balloon mitral valvotomy (BMV) by the transseptal double balloon technique, the mitral valve area (MVA) increased from 0.78 +/- 0.1 cm2 to 1.80 +/- 0.3 cm2, (p < 0.001). Effective balloon dilating area (EBDA) of each combination of balloons used was calculated using a standard formula. Patients were classified into 4 subgroups with approximate EBDAs of 3.3, 4.0, 4.9 and 5.7 cm2 and they had mean post-BMV MVAs of 1.28, 1.78, 1.89 and 1.98 cm2 respectively (ANOVA F = 3.32, p < 0.05). Patients were reclassified after normalisation of EBDA and post-BMV MVA to square metre of body surface area. Three subgroups with mean normalised EBDAs of 2.32, 2.96 and 3.62 cm2/m2 had mean normalised post-BMV MVAs of 0.99, 1.17 and 1.40 cm2/m2 respectively (ANOVA F = 6.85, p 0.01). A trend towards increasing mitral regurgitation with increasing balloon size was noted. Three cases of mitral regurgitation including one case of severe mitral regurgitation occurred in the subgroup of 9 patients with largest normalised EBDAs. The overall correlation between normalised EBDAs and normalised post BMV MVA was strong r = 0.67, p < 0.01). The optimal normalised EBDA for Indian patients undergoing BMV is around 3.6 cm2/m2. Balloons used should be sized accordingly.

Intracardiac blood flow velocities and cardiac output in normal fetuses: a prospective pulsed Doppler echocardiographic study.

Two dimensional and pulsed Doppler echocardiographic studies were performed in human fetuses with the aim to establish normal values for blood flow velocities and cardiac output in Indian subjects. Thirteen pregnant mothers were prospectively followed up at 4 weeks interval from 19 to 40 weeks of gestation. Blood flow velocity spectra across aortic, pulmonary, mitral and tricuspid valves were analyzed to obtain peak flow velocity (cm/sec) and velocity time integral. Aortic and pulmonary diameters were measured at the valve level from two dimensional echocardiographic images and ventricular stroke volume calculated. The values were plotted against fetal age (weeks) and fetal weight (gms). Our results showed that there is a linear increase of the measured Doppler data, with increasing gestational age and weight. These values may be used as a reference for the Indian population.

Tetralogy of Fallot with absent pulmonary valve: diagnostic features and management.

Tetralogy of Fallot with absent pulmonary valve is a rare congenital malformation. The diagnostic features and surgical management in ten patients with this malformation have been described. There were five male and five female patients, (age 3 1/2 to 26 years). The common symptoms were recurrent respiratory tract infection and cyanosis. Examination revealed hyperdynamic precordial pulsations, single second heart sound and an early diastolic murmur along the left sternal border in all. Electrocardiograms were indistinguishable from typical tetralogy of Fallot. Chest X-ray revealed cardiomegaly, prominent pulmonary conus and dilated pulmonary arteries in all cases, lung vascularity being variable. Echocardiographic findings were diagnostic and are discussed in detail. Cardiac catheterization and angiocardiography revealed annular stenosis in all, along with aneurysmal dilatation of main and branch pulmonary arteries. Eight patients underwent intracardiac repair. There was no perioperative mortality. All patients have been followed up for 350 months (mean 29 months).

Effect of pinealectomy on daily rhythm of blood glucose in rabbits.

Daily rhythm of blood glucose was studied in superior cervical ganglionectomized (SCGX), sham operated and normal rabbits. A typical daily rhythm was observed in normal animals which was not influenced by surgical procedures. However, ganglionectomy, which tantamount to physiological elimination of pineal gland, caused complete reversal of this rhythm. Probable role of pineal gland in controlling blood glucose daily rhythm is suggested.

Hyperglycaemic effect of verapamil--an experimental study.

Verapamil in doses of 2, 4, 8 mg/kg produces hyperglycaemia of 1 to 2 hr duration and impairs glucose tolerance in rabbits. The probable mechanism of this hyperglycaemic response is discussed.