PubMed Health⌕ Search

Biomedical subjects

S Aslam

Publications and source records attributed to S Aslam.

33 records · Page 2Linked to original sources
PubMed1998

A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene.

Molecular studies have been performed on a Greek family with factor XIII-A subunit deficiency. The 15 exons of the A subunit gene were amplified by polymerase chain reaction and analysed by direct nucleotide sequencing. A homozygous single base insertion (1286insC) in exon 9 of the gene was identified in three affected family members. The insertion results in a frameshift and a premature stop signal a short distance downstream at codon 403. Any A subunit protein expressed is likely to be unstable and lack part of the catalytic core domain together with both beta barrel domains towards the C-terminal of the molecule. This study contributes to our knowledge of the mutational spectrum in patients with factor XIII-A deficiency.

DNA Transposable Elements↗
PubMed1997

Fates of the earliest generated cells in the developing murine neocortex.

In mammalian species studied to date, the first-born neocortical cells normally form two layers, one above and one below the cortical plate, called the marginal zone (future layer 1) and the subplate. In primates and carnivores, many of these first-born cells die early in postnatal life. Whether this also occurs in rodents is highly controversial. In this study, we injected pregnant mice with bromodeoxyuridine on embryonic days (E) 11-14 to label the earliest generated neocortical cells, and examined their fates between birth and postnatal day 21. At birth, most cells born on embryonic day 11 were below the cortical plate, and a smaller proportion were above it. Very few of these cells remained by postnatal day 3 and there were none at any depth in the neocortex at older ages. At birth, the largest proportion of cells born on embryonic days 12 and 13 were in the subplate and smaller proportions were in the cortical plate and marginal zone. At older ages, almost all of these cells had disappeared from the marginal zone and from below the cortical plate, although some were retained in the cortical plate. The density of the remaining E12- and E13-born cells decreased more than could be explained by neocortical expansion alone. As a control, we studied cells born on embryonic day 14. These cells were restricted to the cortical plate at birth. By postnatal day 21, their density had decreased by an amount that could be explained by neocortical expansion alone. We conclude that, as in other species, many of the earliest generated cells of the murine neocortex die.

Age Factors↗
PubMed1997

Bipedicle flaps: simple solutions for difficult problems in the extremities.

Bipedicle flaps have been used to provide good quality soft tissue cover for defects in many anatomical sites. The indications for the use of this flap have not been well defined and with the advent of more complex modes of tissue transfer this simple technique is often overlooked. We have found it to be a safe and expedient method of providing cover for difficult defects on the extremities. We present a series of 9 flaps raised on 7 patients over a 12-month period and discuss the indications and refinements in flap design.

Adult↗
PubMed1997

Temperature profiles during resuscitation predict survival following burns complicated by smoke inhalation injury.

Temperature and resuscitation profiles of 15 non-survivors were compared with matched survivors of major burns. All patients were intubated and ventilated for smoke inhalation injury, survived more than 3 days postburn and had a cutaneous burn greater than 15 per cent of the body surface area (mean 32.3 +/- 11.0 per cent SD). Cases were matched for similar ages (within 10 years) and total body surface area burn (within 10 per cent). The rate of core temperature rise following admission to the burn unit was significantly greater in survivors (mean 0.46 +/0 0.18 degree C/h) compared with matched non-survivors (mean 0.30 +/- 0.15 degrees C/h; p < 0.01). Core temperature increased at a rate of 0.27 degrees C/h or greater in all survivors, whereas 7 non-survivors raised their core temperature at a rate less than this. The rate of skin temperature rise was also significantly greater in the survivors (mean 1.35 +/- 0.91 degrees C/h) compared with matched non-survivors (mean 0.63 +/- 0.43 degrees C/h, p < 0.01). In 13/15 survivors, the skin temperature increased at a rate of 0.6 degree C/h or greater, whereas in 8/15 non-survivors skin temperature increased at a rate less than this. There was a negative relationship between initial core temperature and delay from time of burn to admission to the burns unit in non-survivors (correlation coefficient = -0.92; p < 0.01), whereas there was no effect of delay in the survivors. These findings suggest that patients with a high mortality probability can be detected early in their clinical course by means of temperature profiles.

Adult↗
PubMed1997

Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIII(A) subunit.

Molecular analysis has been performed on a Malaysian patient with a severe bleeding disorder due to factor XIII(A) subunit deficiency. Total mRNA was isolated from the patient's leucocytes and four overlapping segments corresponding to the entire coding region of the A subunit cDNA were amplified by RT-PCR. The cDNA segments amplified efficiently and were of expected size. Direct sequencing of the complete reading frame revealed a single homozygous base change (nt 1327G-T) in exon 10 corresponding to a missense mutation, Val414Phe, in the catalytic core domain of the A subunit monomer. The mutation eliminates a BsaJ1 restriction site and family screening showed that both parents were heterozygous for the defect. The base substitution was absent in 55 normal individuals. Val414 is a highly conserved residue in the calcium-dependent transglutaminase enzyme family. Computer modelling based on 3D crystallographic data predicts that the bulky aromatic side chain of the substituted phenylalanine residue distorts protein folding and destabilizes the molecule. In addition, conformation changes in the adjacent catalytic and calcium binding regions of the A subunit are likely to impair the enzymatic activity of any protein synthesized.

Adult↗
PubMed1997

Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.

Hereditary haemochromatosis is an autosomal recessive disorder characterised by life-long excessive accumulation of iron. A candidate gene for hereditary haemochromatosis has recently been reported (HLA-H) and a specific missense mutation (Cys282Tyr) has been identified in 85% of patients with the disorder. We describe the rapid detection of this mutation using the polymerase chain reaction and restriction endonuclease digestion. The usefulness of this test for early diagnosis of hereditary haemochromatosis in asymptomatic family members is highlighted.

Cysteine↗
PubMed1996

Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene.

We investigated the molecular basis of factor XIII(A) subunit deficiency in a Greek family. Each of the 15 exons of the A subunit gene were individually amplified by polymerase chain reaction, using previously reported oligoprimers. The proband with severe deficiency was found to have a homozygous 13-base pair deletion in the 3' half of exon 3. The deleted sequence, extending from codons 82-86, results in a frameshift and generates a downstream termination codon in exon 4. Single strand conformation polymorphism (SSCP) analysis detected no additional mutations in the coding or consensus splice sequences of the A subunit gene. Both parents of the proband were heterozygous for the defect. Only one previous microdeletion (AG dinucleotide) has been reported in the A subunit gene, and was located at the intron B-exon 3 boundary. Further studies are necessary to determine whether this region of the gene is a "hot spot" for microdeletion mutations.

Amino Acid Sequence↗
PubMed1995

Factor XIIIA Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit.

Molecular analysis performed on a Canadian family with congenital factor XIII deficiency revealed a homozygous missense mutation (Leu667Pro) in exon 14 of the A subunit gene in three affected siblings. The mutation results from a T-to-C transition at nucleotide position 2087 and generates a new Msp1 restriction site. Digestion of an amplified fragment containing exon 14 with this restriction enzyme enabled the heterozygous allele to be identified in both parents (who were third cousins) and three other family members. SSCP analysis detected no additional mutations in the coding or consensus splice sequences of the A subunit gene. The mutant nucleotide substitution was absent in 60 normal alleles and 10 unrelated patients with XIIIA deficiency. Leu667 is located in the carboxyl terminal beta barrel 2 domain of the A subunit molecule. Computer modelling based on 3D crystallographic data predicts that the mutant protein has aberrant folding and is likely to be rapidly degraded following translation.

Factor VIIIa↗
PubMed1985

A double-blind crossover clinical trial of labetalol and propranolol in patients of essential hypertension.

The efficacy and safety of labetalol was compared in a double-blind crossover design with propranolol in 27 patients suffering from essential hypertension with a supine diastolic blood pressure of more than 100 mm Hg. Twelve patients completed the trial. Both the drugs significantly reduced the blood pressure as compared to pretreatment values and the end-point, i.e. a supine diastolic blood pressure of 90 mm Hg or less, was achieved at the end of each treatment. However, the control of blood pressure appeared to be better sustained with labetalol. The side-effects, though minor in nature, were relatively more often observed with propranolol.

Clinical Trials as Topic↗
PubMedDate not supplied

Retrospective analysis of abdominal surgeries at Nepalgunj Medical College (NGMC), Nepalgunj, Nepal: 2 year's experience.

BACKGROUND: Abdominal surgeries are the commonest major operations that are performed in the department of surgery. AIM: To find out the different causes of emergency and elective abdominal surgeries at Nepalgunj Medical College Teaching Hospital (NGMCTH) Nepalgunj, Nepal. MATERIAL AND METHOD: This is a retrospective study conducted in the department of surgery at NGMCTH Nepalgunj, Nepal, over a period of 2 years (2001 to 2003). The patients included in this study were drawn from Banke, Bardiya, Kailali, Kanchanpur, Surkhet, Dang, Dailake, and Tikapur. They belong to both sexes and different age groups. All the records of these patients under went laparotomy for elective as well as emergency conditions were included in this study. The data were analyzed; tabulated and following results were obtained. RESULTS: The commonest cause of emergency laparotomies were peritonitis (peptic ulcer, enteric and appendicular perforations) whereas, the commonest cause of elective laparotomies were chronic cholecystitis with cholelithiasis followed by chronic appendicitis and pyloric obstruction. CONCLUSION: Over all, cholecystectomy for cholecystitis with cholelithiasis was the commonest operation, which was done in last two years. This disease may be because of excessive use of saturated animal fat and vegetable oil. Peritonitis was the 2nd commonest cause of abdominal surgery. Among the causes of peritonitis, peptic ulcer perforations were the frequent followed by enteric and appendicular perforations. Appendicitis was the 3rd commonest cause of abdominal surgery. Nepal, being a Hindu country, people consume excessive amount of meat, and possibly due to this, the disease of the appendix was very high as compared to other Asian countries where people live on bulk cellulose diet.

Abdomen↗
PubMedDate not supplied

Invasion of chicken reproductive tissues and forming eggs is not unique to Salmonella enteritidis.

Experiments were conducted in which Salmonella enteritidis Phage Type 8, Phage Type 2, and RDNC (reaction does not conform) or three isolates of Salmonella typhimurium of diverse origin were fed to adult laying hens to determine if S. enteritidis has a selective advantage over S. typhimurium, which is now rarely isolated from chicken eggs, in its capacity to invade reproductive tissues. The results revealed that S. enteritidis and S. typhimurium may be equal in their potential to colonize the tissues of the reproductive tract and eggs that are forming in the oviduct prior to oviposition. S. enteritidis, but not S. typhimurium, was isolated from egg contents after oviposition. The degree to which intestinal, hepatic, splenic, or reproductive tissues were colonized by either serotype was not seen to affect the rate of colonization of eggs forming in the oviduct or the contamination of eggs after oviposition. Virulence factors related to the difference in the association of S. enteritidis and S. typhimurium with egg-borne salmonellosis remain to be defined.

Animals↗