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Biomedical subjects

F Watkins

Publications and source records attributed to F Watkins.

18 recordsLinked to original sources
PubMed2001

A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.

The recurrent translocation t(5;11)(q35;p15.5) associated with a 5q deletion, del(5q), has been reported in childhood acute myeloid leukemia (AML). We report the cloning of the translocation breakpoints in de novo childhood AML harboring a cryptic t(5;11)(q35;p15.5). Fluorescence in situ hybridization (FISH) analysis demonstrated that the nucleoporin gene (NUP98) at 11p15.5 was disrupted by this translocation. By using 3'--rapid amplification of complementary DNA ends (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that results in the in-frame fusion of NUP98 to a novel gene, NSD1. The NSD1 gene has 2596 amino acid residues and a 85% homology to the murine Nsd1 with the domain structure being conserved. The NSD1 gene was localized to 5q35 by FISH and is widely expressed. The reciprocal transcript, NSD1-NUP98, was also detected by reverse transcriptase--polymerase chain reaction. This is the first report in which the novel gene NSD1 has been implicated in human malignancy. (Blood. 2001;98:1264-1267)

Acute Disease↗
PubMed2001

Allergic contact dermatitis due to thiuram exposure from a fungicide.

A 49-year-old man developed a widespread eczematous eruption following contact with plants sprayed with a fungicide. Patch testing revealed a strong reaction to thiuram mix and several of the individual thiuram mix constituents. The fungicide contained tetramethylthiuram disulphide, a thiuram chemical. Thiurams are widely recognized as a cause of rubber-glove allergy; however, they are also used extensively in fungicides.

Dermatitis, Allergic Contact↗
PubMed2000

Telomere length shortening in chronic myelogenous leukemia is associated with reduced time to accelerated phase.

Telomere shortening is associated with disease evolution in chronic myelogenous leukemia (CML). We have examined the relationship between diagnostic telomere length and outcome in 59 patients with CML who entered into the MRC CMLIII Trial by Southern blot hybridization using the (TTAGGG)(4) probe. Age-adjusted telomere repeat array (TRA) reduction was found to significantly correlate with time from diagnosis to acceleration, such that patients with a larger TRA reduction entered the accelerated phase more rapidly (r = -0.50; P =.008). Cox-regression analysis for this group was suggestive of a relationship between a greater TRA-reduction and a shorter time to acceleration (P =.054). Age-adjusted TRA reduction did not significantly affect either the time to blast crisis or overall survival. Our results show that telomere shortening observed at the time of diagnosis in CML significantly influences the time to progress to the accelerated phase. The measurement of diagnostic TRA may prove to be clinically important in the selection of patients at high risk of disease transformation in CML.

Age Factors↗
PubMed2000

Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs.

The 5q- syndrome is a myelodysplastic syndrome with the 5q deletion ¿del(5q) as the sole karyotypic abnormality. We are using the expressed sequence tag (EST) resource as our primary approach to identifying novel candidate genes for the 5q- syndrome. Seventeen ESTs were identified from the Human Gene Map at the National Center for Biotechnology Information that had no significant homology to any known genes and were assigned between DNA markers D5S413 and D5S487, flanking the critical region of the 5q- syndrome at 5q31-q32. Eleven of the 17 cDNAs from which the ESTs were derived (65%) were shown to map to the critical region of the 5q- syndrome by gene dosage analysis and were then sublocalized by PCR screening to a YAC contig encompassing the critical region. Eight of the 11 cDNA clones, upon full sequencing, had no significant homology to any known genes. Each of the 8 cDNA clones was shown to be expressed in human bone marrow. The complete coding sequence was obtained for 2 of the novel genes, termed C5orf3 and C5orf4. The 2.6-kb transcript of C5orf3 encodes a putative 505-amino-acid protein and contains an ATP/GTP-binding site motif A (P loop), suggesting that this novel gene encodes an ATP- or a GTP-binding protein. The novel gene C5orf4 has a transcript of 3.1 kb, encoding a putative 144-amino-acid protein. We describe the cloning of 2 novel human genes and the sequencing, expression patterns, and mapping to the critical region of the 5q- syndrome of a further 6 novel cDNA clones. Genomic localization and expression patterns would suggest that the 8 novel cDNAs described in this report represent potential candidate genes for the 5q- syndrome.

Amino Acid Sequence↗
PubMed1999

Telomere length shortening is associated with disease evolution in chronic myelogenous leukemia.

We studied telomere length in the peripheral blood leukocyte samples of a large group of patients with chronic myelogenous leukemia (CML) by Southern blot hybridization using the (TTAGGG)4 probe. The average telomere length expressed as the peak telomere repeat array (TRA) of the peripheral blood samples obtained from a group of 34 healthy age-matched controls ranged between 7.6 and 10.0 kb and the mean peak TRA was 8.7 kb. Forty-one patients in the chronic phase of CML were studied; 32/41 (78%) showed telomere reduction (<7.6 kb) relative to age-matched controls and the mean peak TRA was 6.4 kb (range 4.0-10.6 kb). Serial samples were analysed from 12 patients at both chronic phase and during disease progression. The leukocyte DNA of all 12 patients in accelerated phase and/or blast crisis showed telomere reduction relative to age-matched controls and the mean peak TRA was 4.1 kb (range 3.0-5.4 kb). The peak TRA in the accelerated or blast phase was reduced compared with the corresponding paired sample in the chronic phase in all cases studied. These data show that a marked reduction in telomere length is associated with disease progression in CML.

Adult↗
PubMed1999

Distal Interphalangeal Joint Arthrodesis Using Intramedullary and Interosseous Fixation.

Multiple fixation techniques have been developed for distal interphalangeal (DIP) joint arthrodesis. Delayed and nonunion rates varying from 0% to 20% have been reported. The senior author has refined a technique for DIP joint arthrodesis by using an intramedullary Kirschner wire and an interosseous wire for fusion of the DIP joint and interphalangeal (IP) joint of the thumb. In 24 joint arthrodeses in 19 patients, the nonunion rate was 4%, and the minor complication rate was 12%. The advantages of this technique include the absence of protruding hardware that would necessitate removal; consistency in achieving osteosynthesis, with a low nonunion rate; and technical simplicity.

Journal Article↗
PubMed1992

Skin cancers and HLA frequencies in renal transplant recipients.

An association between HLA DR7 and the development of multiple non-melanoma skin cancer was detected in immunosuppressed patients in southern Australia. The relative risk was 2.6 which was lower than for immunocompetent patients with the same skin cancers. HLA frequencies of renal transplant recipients with multiple skin cancers were determined. The types HLA B27 and HLA Dr7 were found in significantly higher frequency, and there was no absence of HLA A11.

Adult↗
PubMed1992

Investigations into the fat pads of the sole of the foot: anatomy and histology.

Anatomical, histological, and histochemical studies were performed on normal and abnormal fat pads of the sole of cadaver feet. The fat pads were found to contain a significant nerve and blood supply separate from that to the surrounding musculature and skin. Pacinian corpuscles and free nerve endings within the fat were identified. Histological analysis indicated a meshwork of fibroelastic septae arranged in a closed-cell configuration. The mechanical consequences of this organization are discussed in the context of the weightbearing role of the fat pads of the feet. Alterations seen in dysvascular or senescent feet are consistent with the hypothesis that the septal anatomy of the fat pads is central to their cushioning function.

Adipose Tissue↗
PubMed1990

Recurrence and clearance of hepatitis B surface antigenemia in a dialysis patient infected with the human immunodeficiency virus.

Hepatitis B vaccination programs have prevented infection in many dialysis patients, although the antibody response to vaccination is still insufficient in approximately 50%. Reinfection or reactivation of latent hepatitis B infection (HBV) has been reported in certain groups of immunosuppressed patients, including those infected with the human immunodeficiency virus (HIV-1). We report the reactivation or reinfection of HBV with resurgence of hepatitis B surface antigen in a dialysis patient coinfected with HIV-1. Thus, in dialysis patients with latent HBV infection, with undetectable hepatitis B surface antigen (HBsAg) levels, the potential exists to reactivate during immunosuppression associated with HIV-1 infection and/or end-stage renal disease. Reinfection with a different subtype is also possible. The development of hepatitis B surface antigenemia in this patient population creates a potential for transmission in the dialysis setting. This is of special concern since the number of patients infected with HIV-1 and with evidence of prior hepatitis B infection is increasing in urban units.

Acquired Immunodeficiency Syndrome↗
PubMed1988

Nipple discharge and breast lump related to Montgomery's tubercles in adolescent females.

Four adolescent girls, aged 12 to 14 years, were seen for evaluation of spontaneous nipple discharge, two of whom had associated breast lumps in the ipsilateral breast. Clinical examination showed the discharge to be arising from one or several of Montgomery's areolar tubercles, with the breast lumps localized to the subareolar region immediately beneath the discharging tubercle. The secretions were episodic, thin, varied in color from clear to brown, but were not milky. All discharges resolved within 3 to 5 weeks, and the associated breast lumps resolved within 4 months without treatment. There were no associated clinical complaints or physical findings and detailed endocrinologic assessments including serum prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyroid function tests, and 17 beta estradiol; they were all normal. None of these patients was pregnant, and follow-up from 4 to 18 months did not reveal evidence of recurrence or other pathology. Experience gained from these four cases suggests that cysts and spontaneous, non-milky discharge related to Montgomery's tubercles in otherwise healthy, nonpregnant adolescent females, represents a benign, self-limiting problem. Unless other indications are present, endocrinologic investigation is unnecessary and spontaneous resolution can be expected.

Adolescent↗
PubMed1975

MIND--a five-state regional approach to continuing dental education.

MIND has finished two years of operation as a regional center for continuing dental education. The responses from viewing cards, and the number of credit hours given, indicate that approximately 20% of the potential audience participated in the course offerings. Previous experience from a two-year study in South Dakota has shown that there are three major factors that are essential for effective use of television as a dissemination medium. These are as follows: 1) the program should establish effective use of the communication system to maintain an audience; 2) the quality of thr programming material that is televised must be high; 3) the program should be televised on a regular basis to develop viewer habits or expectations. With a potential audience of 11,000 persons, MIND has had to depend heavily on a bulk-rate mailing system to communicate with members of the dental profession. This has caused problems such as reminders not being received on time, or being lost in the mail, or not being read, so that the individual is unaware that the courses are being telecast. Another problem of mailing system is maintaining an up-to-date list of addresses. The names and addresses of the dental assistants are impossible to keep up to date. We use the lists of licensed dentists and dental hygienists issued each July and a list of the certified dental assistants, which, of course, does not include all the dental assistants in our five-state area. A system providing more direct contact with the individual needs to be developed. Quality of televised courses is determined by the clinician's style of presentation as well as by the content and organization of the course material. The selection of dental information aimed toward the dentist in general practice results in loss of some members of the viewing audience, particularly specialists and generalpractitioners who have confined their practice to a particular area of dentistry. Quality is also judged by the technical aspects such as camera coverage, color, types of audiovisual materials, and televison reception. There is a limited amount of videotaped material available, and the members of the Board of Directors are asked to preview the videotapes and select three courses that they judge to be of the best quality for the year's programs. One difficulty is to find courses that will be of value to all three groups--dentists, dental assistants, and dental hygienists. Despite the problems encountered, the use of educational television should focus on the positive characteristics of availability, relatively low cost of operation, and the opportunity to provide continuing dental education at a convenient time and place.

Curriculum↗