PubMed Health⌕ Search

Biomedical subjects

A Rose

Publications and source records attributed to A Rose.

17 recordsLinked to original sources
PubMed2026

Age-stratified mutation patterns in early-onset colorectal cancer reveal distinct molecular features and therapeutic implications.

BACKGROUND: Colorectal cancer (CRC) is increasingly diagnosed in younger adults, with evidence that early-onset cases (age <50 years) differ in the spectrum of prevalent gene mutations compared with older individuals. To evaluate how these age-related differences may inform testing guidelines and therapeutic development, we examined mutation rates of the most prevalent gene mutations across four age-stratified cohorts. PATIENTS AND METHODS: Clinicogenomic data were obtained from Memorial Sloan Kettering Center for Harmonized Onco-genomic Research Dataset and China Pan-Cancer cohorts available in cBioPortal. A total of 6762 samples were analyzed. Mutation frequencies for a comprehensive panel of the 100 most prevalent CRC genes were compared across four age groups: 18-29 (n = 79), 30-39 (n = 402), 40-49 (n = 1064), and &#x2265;50 (n = 5217) using chi-square analysis. False discovery rate (FDR) correction for multiple comparisons was carried out using Benjamini-Hochberg procedure. RESULTS: Statistically significant variation in mutation frequency across age groups was seen in 22 key genes. APC mutations increased with age and were seen in 49.4% of patients in the 18-29 group, 69.7% in 30-39, 73.3% in 40-49, and 75.25% of patients &#x2265;50 (P < 0.001, FDR < 0.001). The oldest cohort was more than three times more likely to have an APC mutation than the youngest [odds ratio (OR) = 3.74, 95% confidence interval (CI) 2.44-5.74, P < 0.001]. In contrast, SMAD4 mutations were twice as common in the youngest age group at 31.6% compared with those over 40, with a prevalence of 17.29% in patients 40-49, and 18.84% in patients over 50 (OR = 2.03, 95% CI 1.26-3.27, P < 0.001, FDR < 0.001). POLE mutations peaked in the 30-39 age group with a prevalence of 10.7% compared with 6.3% in patients aged 18-29, 4.9% in patients aged 40-49, and 5.9% in patients aged &#x2265;50 (P < 0.001, FDR < 0.001). Individuals in the 30-39 group were nearly twice as likely to carry a POLE mutation compared with those over 40 (OR = 1.96, 95% CI 1.41-2.74, P < 0.001). CONCLUSIONS: Differences in mutations of key genes including a lower prevalence of APC mutations and increased SMAD4 mutations in younger individuals provides further supporting evidence that early-onset CRC may represent a distinct biological subtype of CRC. Enrichment of POLE mutations in younger patients highlights the importance of expanded molecular profiling in early-onset CRC, which could help identify patients most likely to benefit from immunotherapy and advance personalized treatment strategies in CRC. Together, these findings reinforce the need to approach early-onset CRC as a distinct biological entity and ensure that appropriate molecular assays are incorporated to guide care.

APC↗
PubMed1992

Effects of childhood sexual abuse on childbirth: one woman's story.

Anna Rose is a survivor of childhood emotional, physical, and sexual abuse. Much of the abuse was "submerged" until her mid-thirties, when she was pregnant with her second child, and finally began to remember and deal with the realities of what had happened to her. During her second pregnancy, Anna wrote, "It has taken me more than three years to even begin to deal with the rage I feel about my first birth experience, even though I have been in therapy most of that time. Now that I am pregnant again, the unresolved issues are coming to the surface, and intense fears that this birth will be a repeat of the first." Anna's first child, Elliot, was born in 1987 in a hospital birthing room in the northeastern United States. Her husband Paul, a younger sister, and a close friend were present, and she was attended by an obstetrician named Bernie. She describes that birth as "19 hours of hard labor, absolutely exhausting and unmanageable, which required drugs at some point to let me sleep for a few hours." Labor was induced by Pitocin due to premature rupture of membranes and lack of effective contractions after 12 hours. Continuous electronic fetal monitoring was used throughout labor. Anna breastfed Elliot for three years, and found La Leche League "extremely helpful and supportive" during that time. Tom, Anna's second child, was born at home in 1991. Two midwives attended the birth after she changed caregivers during the pregnancy because she "did not feel safe enough" with the obstetrician and nurse-midwife team she had chosen for this birth. She maintained the team as backup, although they did not know of her plans for a home birth. Her second labor lasted under 6 hours, was noninterventive, and "incredibly intense and painful, partly due to the abuse memories that were coming up and getting in the way and partly due to the baby's position." We thank Anna Rose for sharing her story with Birth. Her reason for doing so is, in her words, because, "I feel strongly that it is important to share this information in an effort to educate health care professionals so that other women may be helped."

Adult↗
PubMed1991

Evaluation of once-daily levobunolol 0.25% and timolol 0.25% therapy for increased intraocular pressure.

In a three-month, double-masked, randomized clinical trial, we evaluated the once-daily ocular hypotensive efficacy of 0.25% levobunolol and 0.25% timolol in 80 patients with open-angle glaucoma or ocular hypertension. Thirty-seven of the 39 patients (95%) in the 0.25% levobunolol group and 35 of the 41 patients (85%) in the 0.25% timolol group successfully completed the three-month study period. The overall mean decrease in intraocular pressure was 5.3 mm Hg (22%) in the 0.25% levobunolol group and 5.4 mm Hg (22%) in the 0.25% timolol group. This difference was not statistically significant. In both treatment groups, effects on mean heart rate and blood pressure were minimal. The data suggest that levobunolol 0.25% and timolol 0.25%, administered once daily, are equally effective in the treatment of open-angle glaucoma and ocular hypertension.

Adult↗
PubMed1991

Two-dimensional gel analysis of complex DNA families: methodology and apparatus.

We describe a reproducible protocol for the analysis of individual members of complex mammalian gene families by gel fractionation in two dimensions within a specially designed, easily built electrophoretic apparatus. We have used this protocol to resolve the family of mouse H-2 class I genes, with approximately 30 members, as well as two different families of endogenous retroviral-like sequences, each of which has approximately 180 members dispersed throughout the genome. The results demonstrate the feasibility of using this protocol for rapid, whole genome analysis of individual animals and cell lines. Two-dimensional DNA analysis of highly repeated retroviral-like DNA families could be applied to genetic mapping and cloning experiments as well as to obtaining whole genome fingerprints in the analysis of somatic cell hybrid lines that contain a subset of chromosomes from the genome of interest.

DNA Restriction Enzymes↗
PubMed1991

A total body nitrogen facility for paediatric use.

The design, calibration and evaluation of a facility for in vivo prompt gamma neutron capture analysis of total body nitrogen in children is described. The patient is scanned in both supine and prone positions, across a vertically collimated beam from a 1 GBq 252Cf fission source. Two NaI(T1) detectors are placed on either side of the patient, perpendicular to both the neutron beam and the scanning direction. The effective dose equivalent delivered to a child during an 840 s scan is approximately 0.14 mSv (QF = 10). Correction factors for nitrogen background (width-dependent), hydrogen background (1-4% of hydrogen gamma ray peak) and the differential attenuation of nitrogen and hydrogen gamma rays (width-dependent) can be applied to the measured nitrogen-to-hydrogen gamma ray counts ratio. By using the mass of hydrogen (based on body mass and fat mass) as an internal standard, the nitrogen mass can then be determined. Measurements with a urea-containing box phantom show that the current precision (CV) of the net nitrogen counts and of the nitrogen-to-hydrogen counts ratio is +/- 2.0% and +/- 1.5%, respectively. Using small anthropomorphic and other phantoms, estimation of the mass of nitrogen has a precision of +/- 1.4 to 5.4% and an accuracy of 97.1 to 101.5%.

Australia↗
PubMed1991

Is what you see what you get? Breast specimen handling re-visited.

Specimen radiography is already established as an essential adjunct to excisional biopsy of mammographically detected abnormalities. Two methods of specimen sectioning following the initial specimen radiograph are described. The techniques were devised to identify the lesion accurately in the specimen for subsequent pathological analysis. They have been tailored to suit the differing facilities at two Breast Screening Centres. The methods highlight the desirability of a cooperative multidisciplinary approach to the management of breast disease. They underline the importance of radiological localization of the lesion; not only for the surgeon, but also for the pathologist.

Biopsy↗
PubMed1990

[Comparative clinical studies of oral premedication in childhood with reference to various pharmaceuticals].

In a randomized prospective study of 206 children aged between one and 14, the influence of oral praemedication on the psychic condition and with regard to anaesthesiologic measures was investigated. Heart rate, inhibition of salivation and the kind and frequency of side-effects were also examined. The praemedication was carried out using diazepam (0.3 mg/kg), promazin (1.0 mg/kg), promethazin (1.0 mg/kg) and chlorphenaethazin (1.0 mg/kg). It was not possible to determine statistically relevant differences between the various drugs concerning the fixed criteria. In general, however, diazepam seems to achieve the best results. In the younger children (1 to 6 years) a frequent and insufficient effect of praemedication was noted immediately. Oral praemedication proved to be a valuable and practicable method which was well tolerated by the great majority of the children.

Administration, Oral↗
PubMed1979

Gastrointestinal mucormycosis.

Mucormycosis is an acutely malignant fungal disease causing local thrombosis and infarction. Gastrointestinal infection most commonly occurs in diabetics or in the immunologically compromised. This case demonstrates the radiological appearances of the gastrointestinal lesion and prolonged survival with amphotericin-B therapy.

Adult↗
PubMed1978

Spectral response of the human eye.

A thermal activation energy of 1.5 eV for the activation of rhodopsin is needed to reduce the rate of thermal activations below the rate of optical activation at the luminance of the absolute threshold. The thermal energy of 1.5 eV is not inconsistent with the optical threshold energy of about 1.8 eV.

Humans↗
PubMed1975

[Diurnal variation of glucose tolerance and insulin secretion in man (author's transl)].

The present investigation was designed to determine whether the circadian rhythm of glucose utilization is based on a quantitatively different release of insulin and/or on changing secretory dynamics of the hormone. 22 healthy men received three oral glucose tolerance tests in the morning, afternoon and evening of the same day. The blood sugar levels in the afternoon and evening tests were significantly higher than those found in the morning tests. Also the plasma insulin response was higher in the afternoon than in the evening, but it showed a delayed rise and late peak response. In the evening the normal subjects responded as mild diabetics.

Adolescent↗
PubMedDate not supplied

Figure-of-eight circulation in thoracopagus conjoined twins with a shared heart.

A pair of thoracopagus conjoined twins is described in whom a common heart with atrial and ventricular conjunction was demonstrated by cardiac catheterization and at autopsy. Each twin had an independent noncommunicating single ventricle with separate origins of the aorta and pulmonary arteries. A complex pattern of pulmonary and systemic venous return resulted in a fugure-of-eight circulation not previously described which precluded surgical intervention. This report demonstrates the feasibility of detailed hemodynamic assessment in thoracopagus twins and the value of selective ventricular angiography with careful observation of the venous phase in determining an accurate preoperative diagnosis.

Adult↗