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Biomedical subjects

R Winter

Publications and source records attributed to R Winter.

411 records · Page 23Linked to original sources

Molecular studies of the fragile X syndrome.

We have studied families segregating for the fragile X syndrome for the presence of amplification of the CGG repeat sequence adjacent to the HpaII Tiny Fragment (HTF) island in the FMR-1 gene. We demonstrate that 138/143 fragile X positive, mentally retarded males show a characteristic smear of fragments corresponding to somatic variation in the amplification of the CGG sequence. In 7/8 normal transmitting males (NTM's), we show that there is a small amplification of sequence but no evidence for somatic variation. Defined mutated fragments in the size range found in NTM's are seen in daughters of NTM's. The daughters of these female carriers show either a defined fragment in the NTM size range, a defined larger fragment or a heterogeneous pattern of fragments. In the latter 2 cases the clinical phenotype of the females cannot easily be predicted, presumably because of variable X inactivation. In some families, the observed DNA genotype does not correlate with the phenotype; in others we demonstrate the occurrence of individuals with a mosaic DNA genotype. The implications of these data for diagnosis of the disease are discussed.

DNA Mutational Analysis↗

Prenatal diagnosis of campomelic dysplasia by ultrasonography.

Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.

Bone and Bones↗

Can bowel endoscopy predict colorectal surgery in patients with an adnexal mass?

The objective of this retrospective study was to identify the ability of preoperative endoscopy of the lower gastrointestinal tract and other tests to predict large bowel resection in patients with an adnexal mass. We reviewed 573 patients with a suspected adnexal mass admitted for surgery between 1987 and 1997. Two hundred fifty four patients (44%) had preoperative sigmoidoscopy (n = 97) or colonoscopy (n = 157). We identified patients who underwent a colorectal operation as part of their surgery and correlated surgical findings with the results of preoperative endoscopy, preexisting clinical symptoms, preoperative pelvic exam and ultrasonography, and the CA125 level. The sensitivity and positive predictive value of bowel endoscopy for predicting large bowel surgery were 18% and 59%, respectively. Multivariate analysis showed preexisting bowel-related symptoms, a pelvic exam suggestive of malignancy, a CA125 value >1000 U/ml, and infiltration of the colorectal wall at bowel endoscopy to be independently associated with subsequent colorectal surgery. We conclude that preoperative bowel endoscopy cannot accurately predict colon resection in patients with a suspected adnexal mass. Preexisting bowel-related symptoms, a pelvic exam suggestive of malignancy and a CA125 value >1000 U/ml are associated with subsequent colorectal surgery.

Adnexal Diseases↗

Syringomyelia and scoliosis: a review of twenty-five pediatric patients.

A retrospective review of 25 patients with scoliosis secondary to syringomyelia was conducted. All patients had large syrinxes, but only 10 patients had abnormal neurologic findings, suggesting that subtle neurologic findings in patients with scoliosis should not be underestimated and supporting liberal use of magnetic resonance imaging (MRI). The results of three approaches to the care of these patients were reviewed: passive observation, bracing, and spinal fusion. Curves progressed > or = 5 degrees in patients aged < 10 years who were observed, but in children aged > 10 years, curves progressed > or = 10 degrees. Curves responded well to bracing, but correction was not maintained out of brace for patients with progressive and/or severe curves. Good corrective was achieved safely during operation.

Adolescent↗

Recurrence in a Schuchardt incision after Schauta-Amreich radical vaginal hysterectomy for cervical cancer.

A Schuchardt incision is frequently performed to facilitate access to the parametrium during radical vaginal hysterectomy for cervical cancer. We report an adenocarcinoma recurrence in a Schuchardt incision 12 months after radical vaginal hysterectomy for FIGO stage IB1 cervical cancer. Histology of the primary tumor had shown a well-differentiated adenocarcinoma and poorly differentiated squamous cell carcinoma of the cervix 2.6 cm in maximum diameter. After further surgical therapy and adjuvant radiotherapy, the patient died of disease 51 months after the initial operation. Cervical cancers can implant and recur in perineal incisions. Thus, it appears prudent to avoid such incisions or, if they are made, to irrigate them copiously before closing them.

Adenocarcinoma↗

Preventive discharge planning.

Much attention has been brought to the variety of legal and treatment problems that arise when encountering incompetent patients. Either incompetent patients are not discharged when there is no longer a need for hospitalization, or the patient is discharged with little hope that after treatment plans will be followed. Both situations are costly and ineffective. Problems associated with treating incompetent patients can be anticipated and minimized. This article suggests mechanisms in the form of preventive discharge planning and durable powers of attorney. The authors also emphasize the benefits of building and maintaining relationships with attorneys for the purpose of providing public information seminars and legal assistance to families.

Hospitals, Community↗

Preoperative thrombocytosis is an independent prognostic factor in stage III and IV endometrial cancer.

BACKGROUND: To identify prognostic factors in stage III and IV endometrial cancer with special attention to pretreatment platelet count. MATERIALS AND METHODS: 59 patients with FIGO stage III or IV disease operated on between 1983 and 1993 were analyzed. Patients with preoperative thrombocytosis were compared with those without thrombocytosis. Prognostic factors were analyzed with a Cox proportional hazard model. RESULTS: With the exception of age, there were no significant differences between patients with or without thrombocytosis. At multivariate analysis, five-year disease-free survival was influenced significantly by FIGO stage (stage III vs stage IV; p = 0.009), thrombocytosis (p = 0.02) and cervical involvement (p = 0.024). Similarly, overall five-year survival was significantly influenced by stage (p < 0.001), cervical involvement (p = 0.005) and thrombocytosis (p = 0.01). Age, histology, grade, myometrial invasion, lymph-vascular space involvement or spread to adnexae were not significantly associated with survival. CONCLUSION: Thrombocytosis is an independent prognostic factor in stage III and IV endometrial cancer.

Adult↗

Long-term control of bone marrow carcinosis and severe thrombocytopenia with standard-dose chemotherapy in a breast cancer patient: a case report.

BACKGROUND: Primary metastatic breast cancer with bone marrow involvement and pronounced thrombocytopenia is rare. The myelosuppressive effect of most cytotoxic drugs limits chemotherapy in patients with cytopenia due to marrow involvement. CASE REPORT: A 62-year-old patient, who presented with locally and systemically advanced breast cancer, is reported. The initial work-up revealed bone marrow carcinosis with thrombocytopenia of less than 20,000/mm3 lung and osseous metastases without signs of suppressed erythropoiesis and leucopoiesis. The patient was stabilized with 6 different standard-dose chemotherapy regimens, antihormonal therapy, and trastuzumab before dying 57 months after first diagnosis. The patient received only platelet transfusions on 2 instances with platelets of 2,000/mm3. CONCLUSION: This case illustrates that aggressive standard chemotherapy may be feasible in selected patients with bone marrow carcinosis-associated thrombocytopenia without major bleeding episodes.

Antineoplastic Combined Chemotherapy Protocols↗

[Psychological factors and strabismus].

The purpose of this article is to understand the importance of psychological factors in the occurrence of Squint. Two psychologists have given their advise the understanding of interactions between failure in Squint and Children psychology. On 550 children 40 were studied during two years. We noted associated psychosomatics diseases and family factors.

Child↗

[Helminth species of goats in Germany].

The helminth fauna of the gastrointestinal tract of 25 and the respiratory organs and the livers of 6 German goats was qualitatively and quantitatively examined. One trematode species (Dicrocoelium dendriticum), 2 species of cestodes (Moniezia expansa and metacestodes of Taenia hydatigena) and 28 species of nematodes (24 in the gastrointestinal tract and 4 in the lungs) were recorded. Two goats were infested with Oestrus ovis larvae. The most prevalent species were Ostertagia circumcincta and Chabertia ovina (84% each), Ostertagia trifurcata and Oesophagostomum venulosum (76% each), Ostertagia pinnata and Trichostrongylus colubriformis (64% each), Trichuris ovis (60%) and Skrjabinema ovis and Trichuris globulosa (56% each). The highest mean worm counts were seen in goats infected with Skjabinema ovis (4003), Ostertagia circumcincta (2501), Trichostrongylus axei (1825), Trichostrongylus colubriformis (1578) and Nematodirus battus (1050). Totally, the goats did harbour more nematodes in the abomasum (3734) than in the small intestine (1707) or the large intestine (2343). The lungs were parasitized by Cystocaulus ocreatus, Muellerius capillaris, Neostrongylus linearis and Protostrongylus rufescens.

Animals↗

An audit of treatment withdrawal in one hundred patients on a general ICU.

The audit found that 72.6% of patients who died had treatment withdrawn. Three organ failures were most often present in patients when treatment was withdrawn. Withdrawal of treatment did not mean the cessation of care. Variation in involvement was demonstrated with different consultants.

Adolescent↗