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Biomedical subjects

Y M Chan

Publications and source records attributed to Y M Chan.

At least 73 records · Page 4Linked to original sources

Cracks in the foundation: keratin filaments and genetic disease.

In the past three years, defects in the genes that encode intermediate filament (IF) proteins have been found to be responsible for some inherited skin diseases, and others have been implicated in certain motor neuron diseases and cardiomyopathies. This article reviews how knowledge of IF structure led to the discovery of genetic disorders of IFs, and how the clinical manifestations of these diseases have confirmed the notion that IFs provide the mechanical strength of cells.

Journal Article↗

Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis.

Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10-nm filaments have provided the foundation that has led to the discoveries of the genetic bases of two major classes of human skin diseases. In this report, we review the cell biology and human genetics of these diseases, epidermolysis bullosa simplex and epidermolytic hyperkeratosis. Both of these diseases are epidermal disorders of keratin, typified by cell fragility as a consequence of defects in the mechanical strength of basal epidermolysis bullosa simplex or suprabasal epidermolytic hyperkeratosis cells.

Cell Differentiation↗

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10 nm filaments, have provided the foundation that has led to the discoveries of the genetic bases of two major classes of human skin diseases, epidermolysis bullosa simplex (EBS) and epidermolytic hyperkeratosis (EH). These diseases involve point mutations in either the basal epidermal keratin pair, K5 and K14 (EBS), or the suprabasal pair, K1 and K10 (EH). In severe cases of EBS and EH, mutations are found in the highly conserved ends of the alpha-helical rod domain, regions that, by random mutagenesis, had already been found to be important for 10 nm filament assembly. In order to identify regions of the keratin polypeptides that might be more subtly involved in 10 nm filament assembly and to explore the diversity in mutations within milder cases of these diseases, we have focused on Weber-Cockayne EBS, where mild blistering occurs primarily on the hands and feet in response to mechanical stress. In this report, we show that affected members of two different W-C EBS families have point mutations within 1 residue of each other in the non-helical linker segment of the K5 polypeptide. Genetic linkage analyses, the absence of this mutation in > 150 wild-type alleles and filament assembly studies suggest that these mutations are responsible for the W-C EBS phenotype. These findings provide the best evidence to date that the non-helical linker region in the middle of the keratin polypeptides plays a subtle but significant role in intermediate filament structure and/or intermediate filament cytoskeletal architecture.

Alleles↗

Selection of human spermatozoa by a hyperosmotic two-layer Percoll gradient.

OBJECTIVE: To investigate whether a hyperosmotic Percoll solution improves the spermatozoal recovery rate of a two-layer Percoll gradient. DESIGN: A total of 49 semen samples were prepared by both the conventional two-layer Percoll gradient and a hyperosmotic Percoll gradient. SETTING: In vitro fertilization laboratory of a tertiary care, university-affiliated hospital. PATIENTS: Semen samples were obtained from patients attending semen analysis. MAIN OUTCOME MEASURES: The number of spermatozoa recovered, percentage motility, percentage normal morphology, and their survival at 24 hours were assessed after preparation by both Percoll gradients. RESULTS: The hyperosmotic Percoll gradient resulted in a significantly higher total and motile sperm recovery rate. The degree of increase in total sperm recovery was significantly higher in abnormal semen samples compared with normal semen samples. Percentage normal morphology of sperm samples prepared by hyperosmotic Percoll was improved compared with conventional Percoll but was only significant in abnormal semen samples. However, percentage motility of sperm samples prepared by the hyperosmotic Percoll was significantly lower than those prepared by conventional Percoll gradients. CONCLUSIONS: The hyperosmotic two-layer Percoll gradient improved motile sperm recovery but also recovered more immotile sperm, leading to a decrease in percentage motility. This technique may allow us to recover more spermatozoa when we come across samples of low sperm concentration.

Cell Separation↗

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical-stress-induced degeneration of basal epidermal cells. Recently, it was discovered that the more severe types, Dowling-Meara and Koebner, are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here, we show that the mildest type of EBS, Weber-Cockayne, is also a disorder of these keratins. Affected members of two unrelated families with Weber-Cockayne EBS had a T-->G point mutation in the second base position of codon 161 of one of two K5 alleles, leading to an Ile-->Ser mutation. This mutation was not present in unaffected members or in 156 alleles from normal individuals. Linkage analyses mapped the defect to the type II keratin gene cluster on chromosome 12q11-q13 (peak logarithm of odds score at theta = 0 of 3.0), providing strong additional evidence that this mutation is responsible for the Weber-Cockayne EBS phenotype. Conserved among type II keratins, Ile-161 is in the nonhelical head domain of K5, a region previously shown to be important for 10-nm filament assembly. The mutation generates a potential substrate site for protein kinase C, which could influence intermediate filament architecture, perhaps leading to the intrafilament association seen ultrastructurally in patients with the mutation.

Amino Acid Sequence↗

Audit exposes flawed blood sampling for "digoxin levels".

Therapeutic "digoxin level" monitoring in selected wards was audited. Time elapsing between the last dose and blood sampling was considered appropriate if greater than or equal to 6 h. If such details were not entered on the requisition, the maximum time elapsing was estimated as "appropriate" or "inappropriate" from the time samples were logged into the laboratory and the time the last dose was entered in the patient's treatment sheet. In 22 requisitions detailing sampling time, nine were considered inappropriate. In an additional 150 instances, timing was estimated as inappropriate in 45. Among the 118 requests where timing (estimated or labelled) was appropriate, available plasma digoxin concentrations yielded a mean of 1.0 nM, compared to 1.6 nM in the corresponding 54 patients with premature sampling; this difference was both clinically and statistically significant (95% confidence limits 0.8-1.2 and 1.3-1.9 nM, respectively, p less than 0.001). Premature blood sampling for digoxin levels was common and associated with higher concentrations than when appropriate. Such inappropriate timing may not have serious consequences, but digoxin levels are a matter of record and are used for teaching; due attention to timing could provide more reliable information and avoid wasting valuable resources.

Aged↗

Successful pregnancies resulting from the use of prolonged-incubation human spermatozoa in gamete intrafallopian transfer.

Human spermatozoa that were incubated overnight at room temperature before intrafallopian transfer with freshly collected oocytes gave rise to successful pregnancies and normal live births. The resulting pregnancy rate per transfer of 50% (4 of 8) compared favorably with the average pregnancy rate of 41.8% (38 of 91), achieved by our standard spermatozoal preparation procedure that prepared the spermatozoa approximately 2 hours before the GIFT operation. This new approach for the preparation of human spermatozoa would be applicable to oligospermic patients and some GIFT patients whose partners may have difficulties in producing a semen specimen immediately before the GIFT operation.

Adult↗

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.

To investigate the sequences important for assembly of keratins into 10-nm filaments, we used a combined approach of (a) transfection of mutant keratin cDNAs into epithelial cells in vivo, and (b) in vitro assembly of mutant and wild-type keratins. Keratin K14 mutants missing the nonhelical carboxy- and amino-terminal domains not only integrated without perturbation into endogenous keratin filament networks in vivo, but they also formed 10-nm filaments with K5 in vitro. Surprisingly, keratin mutants missing the highly conserved L L E G E sequence, common to all intermediate filament proteins and found at the carboxy end of the alpha-helical rod domain, also assembled into filaments with only a somewhat reduced efficiency. Even a carboxy K14 mutant missing approximately 10% of the rod assembled into filaments, although in this case filaments aggregated significantly. Despite the ability of these mutants to form filaments in vitro, they often perturbed keratin filament organization in vivo. In contrast, small truncations in the amino-terminal end of the rod domain more severely disrupted the filament assembly process in vitro as well as in vivo, and in particular restricted elongation. For both carboxy and amino rod deletions, the more extensive the deletion, the more severe the phenotype. Surprisingly, while elongation could be almost quantitatively blocked with large mutations, tetramer formation and higher ordered lateral interactions still occurred. Collectively, our in vitro data (a) provide a molecular basis for the dominance of our mutants in vivo, (b) offer new insights as to why different mutants may generate different phenotypes in vivo, and (c) delineate the limit sequences necessary for K14 to both incorporate properly into a preexisting keratin filament network in vivo and assemble efficiently into 10-nm keratin filaments in vitro.

Amino Acid Sequence↗

Post-operative artificial insemination--does it improve GIFT outcome?

Based on a retrospective study of our gamete intra-Fallopian transfer (GIFT) programme we have analysed 102 cycles where a standard GIFT procedure was implemented and 92 cycles where a post-operative intrauterine and intracervical insemination (post-operative IUI/ICI) was performed, in addition to GIFT. Our comparison suggests that the pregnancy outcome has been significantly improved (P less than 0.05) by this additional post-operative IUI/ICI. The standard GIFT group (102 cycles) yielded 38 clinical pregnancies and, ultimately, 29 delivered pregnancies (37.2/28.4%), whilst the post-operative IUI/ICI group (92 cycles) gave 48 clinical pregnancies initially and, currently, 38 pregnancies are ongoing or delivered (52.2/41.3%). The possible implications of the 'normal' presence of spermatozoa in the human female tract as an explanation for this improvement is discussed, and the adoption of IUI/ICI after GIFT is proposed, following a prospective controlled study.

Abortion, Spontaneous↗

Effects of dibutyryl cyclic guanosine monophosphate on human spermatozoal motility and penetration of zona-free hamster oocytes.

The possible effects of N2,2'-O-dibutyryl 3'-5'-cyclic guanosine monophosphate (dbcGMP), imidazole (IM) or their combination on human spermatozoal motility and penetration of zona-free hamster oocytes were investigated. Motility of human spermatozoa was assessed at 0, 0.5, 2, 3, 5 and 8 h over an 8-h incubation period with various concentrations of dbcGMP, IM or dbcGMP plus IM. Both percentage motile spermatozoa and progression of human spermatozoa decreased with increasing concentrations of dbcGMP (12-96 mM) and IM (10-80 mM). This inhibitory effect on motility was more pronounced when dbcGMP was added with IM. For assessment of human spermatozoal penetration into zona-free hamster oocytes, spermatozoa were treated for 30 min with either dbcGMP, IM or both after 5 h of capacitation pre-incubation at 37 degrees C. Alternatively, the compounds were only added during the capacitation preincubation period. At concentrations of dbcGMP less than or equal to 24 mM, neither of the treatments had a significant effect on the penetration rate of zona-free hamster oocytes in comparison with the controls. However, a higher concentration of dbcGMP (48 mM) inhibited the penetration rate. A similar trend was observed when dbcGMP plus IM were added. IM alone had no significant effect on the penetration rate at the concentrations tested (10-40 mM). Our data indicated an inhibitory effect of dbcGMP on both human spermatozoal motility and penetration into zona-free hamster oocytes.

Animals↗

The hypoosmotic swelling test and cryosurvival of human spermatozoa.

The hypoosmotic swelling test is a simple laboratory test to evaluate the functional integrity of the membrane of human spermatozoa. This test was performed on 83 samples of human semen before cryopreservation to determine whether it has any predictive value for the cryosurvival of human spermatozoa. Stepwise regression analysis demonstrated that conventional sperm characteristics, including the concentration, motility, normal morphology and viability, of pre-freeze semen samples were of limited value in predicting the cryosurvival of human spermatozoa. Further, the hypoosmotic swelling test results from pre-freeze semen samples did not correlate with the post-thaw motility or the survival rate of spermatozoa after cryopreservation.

Cell Survival↗

Intrauterine insemination as front-line treatment for non-tubal infertility.

Eighty-one clinical pregnancies occurred from 508 cycles of intrauterine insemination (IUI) in 242 patients. Following 20 miscarriages 30 pregnancies have been delivered, and 31 remain ongoing at 16 weeks and beyond. This represents a 12% delivered/ongoing pregnancy outcome per cycle of IUI, in women of average age 30.9 years who with their partners had suffered on average 3.65 years of infertility. All forms of non-tubal infertility were treated with pregnancies occurring in all primary categories. No pregnancies occurred in 5 women who underwent IUI in 18 natural cycles. All pregnancies arose in the 237 women who received clomiphene citrate, human menopausal gonadotropin, or a combination of both with ovulation triggered by human chorionic gonadotropin. Dependent upon patient age and duration of infertility, we implement IUI as a frontline treatment for all cases of non-tubal infertility prior to subjecting patients to the more costly and invasive tubal transfer techniques.

Adult↗

Fallopian replacement of eggs with delayed intrauterine insemination (FREDI): an alternative to gamete intrafallopian transfer (GIFT).

This report contains details of what is the first group of patients with nontubal infertility to undergo fallopian replacement of eggs with delayed intrauterine insemination (FREDI). Twenty-three patients suffering from idiopathic or immune infertility, polycystic ovarian disease (PCOD), or mild endometriosis underwent follicular stimulation with human menopausal gonadotropin and/or pure follicle-stimulating hormone plus human chorionic gonadotropin prior to laparoscopic pickup of eggs of varying maturity. Eggs without spermatozoa were transferred at the time of laparoscopy. Subsequent high intrauterine insemination (IUI) of washed spermatozoa at a time when egg maturation within the tubes was judged to be complete enabled a cohort of fully capacitated spermatozoa to meet fully mature eggs in a totally physiological manner. Eight clinical pregnancies arose from this group, one healthy, male infant has been delivered, and four pregnancies remain ongoing. Although based on a small population of patients, it does seem that in vivo egg maturation following replacement in the fallopian tube is an effective alternative to in vitro maturation and, with the increased control over timing of egg insemination, leads us to propose FREDI as a flexible new therapeutic approach for the treatment of nontubal infertility.

Female↗

Pregnancies from fallopian replacement of immature eggs with delayed intrauterine insemination.

Gamete intrafallopian transfer requires that a woman should not only have patent tubes but should also have had mature eggs collected for replacement. Eggs must be collected as close to ovulation as possible, to give them a good chance of fertilizing upon replacing them directly into the tubes with the spermatozoa. Preliminary results from three patients who received Fallopian replacement of immature eggs followed by delayed intrauterine insemination indicate that maturation of eggs can occur in vivo in the Fallopian tubes. Intrauterine insemination at a later time when the eggs were judged to be mature has given rise to two pregnancies from the three patients with whom this procedure was adopted.

Adult↗

The use of human follicular fluid in gamete intra-fallopian transfer.

We undertook a prospective study to compare our gamete intra-Fallopian transfer (GIFT) procedure with or without the use of human follicular fluid (FF) as a constituent for the final spermatozoal suspension and as the tubal transfer medium for both eggs and spermatozoa. We routinely perform an intrauterine and intracervical insemination (IUI and ICI) following GIFT, and FF or culture medium was used accordingly as a constituent in this spermatozoal suspension also. When FF was used (26 cycles), clear FF taken from the first egg-bearing follicle was sterilized by micropore filtration, gassed with 5% CO2 in air and warmed to 37 degrees C. This FF was then used to dilute the spermatozoal suspension (50:50, v/v) for both tubal, uterine and cervical inseminations at least 30 min before transfer, and all transferable eggs were placed into this FF before transfer. Alternatively (30 control cycles), eggs and spermatozoa were prepared and transferred in Earle's medium supplemented with 10% pooled fetal cord serum. The FF and control patient groups were relatively homogeneous, with no statistically significant differences in ovarian response, oocyte retrieval or transfer or seminal profiles. The outcome of the GIFT procedures using FF or culture medium showed no significant advantage of the use of FF. The clinical pregnancy rate was similar in both groups: 50% (15/30) control; 46.2% (12/26) FF.

Adult↗

Routine gamete intrafallopian transfer (GIFT): a highly successful option for treatment of non-tubal infertility.

Gamete intrafallopian transfer (GIFT) is increasingly accepted as a realistic alternative to in vitro fertilization (IVF), or intrauterine insemination (IUI) for treatment of non-tubal infertility. The lack of information on fertilization capacity of the gametes, the greater cost relative to IUI, and the partly unsubstantiated claims of higher success rates, caused us some concern with the readiness with which GIFT had been accepted as a standard infertility treatment. So we undertook a provisional GIFT programme with these considerations in mind, and we report on the first 91 GIFT cycles performed in our clinic. Sixty of the patients (62 cycles) treated suffered from idiopathic infertility, 12 from minimal endometriosis, 9 from male factor infertility, and 8 from ovulatory dysfunction. An initial clinical pregnancy rate of 41% (38/91) was achieved; pregnancy loss was 23% (9/38), giving a continuing pregnancy rate of 32% (29/91). Given this undeniably encouraging result, and the potential for diagnostic IVF, embryo freezing, and ovum donation with surplus oocytes collected from this GIFT programme, we now have adopted GIFT permanently as a treatment to complement our IVF and IUI programmes.

Female↗

Outcome of infants with cystic fibrosis requiring mechanical ventilation for respiratory failure.

Previous studies have documented a 75 to 80 percent mortality rate in infants (less than 12 months) with cystic fibrosis who present with RF/MV. We investigated the current outcome of these patients by comparing the outcome of five infants with cystic fibrosis and RF/MV between the years 1980 and 1986 with that of age-matched control subjects with cystic fibrosis and no respiratory failure. Recent Shwachman scores and the number of hospitalizations during the study period were used to assess outcome. All study cases were alive one to six years after the episode of RF/MV. Their mean Shwachman score (83 [range: 70 to 95]) did not differ from the recent mean Shwachman score (78 [range: 50 to 95]) of the control group. Number of hospitalizations did not differ between groups. We conclude that the outcome of infants with cystic fibrosis whose initial presentation is RF/MV is not as grave as once thought. If indicated, infants with cystic fibrosis and respiratory failure should be ventilated.

Cystic Fibrosis↗