ABSTRACT
The C syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome first described in sibs. The inheritance has been assumed to be autosomal recessive. Several authors have commented that the combination of anomalies found in the conditions suggest an underlying chromosomal anomaly and in a few apparent cases chromosome anomalies have been described. Our patient had findings consistent with the C syndrome and a duplication of 3p by use of subtelomere probes. This shows that new cytogenetic techniques continue to be important in defining the underlying cause of MCA/MR conditions.
Subject(s)
Chromosomes, Human, Pair 3/genetics , Craniofacial Abnormalities/genetics , Developmental Disabilities/genetics , Trisomy/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Chromosome Banding , Chromosomes, Human, Pair 5/genetics , Craniofacial Abnormalities/diagnosis , Developmental Disabilities/diagnosis , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Syndrome , Trisomy/diagnosisABSTRACT
We determined the hemostatic and fibrinolytic status in 60 patients with ovarian cancer and benign ovarian cysts. Hypercoagulation, increased platelets, and enhanced fibrinolysis were seen in patients with preoperative ovarian cancer compared to patients with benign ovarian cysts. Enhanced thrombin generation, evidenced by increased F1+2 and decreased antithrombin III (ATIII) levels with further enhanced fibrinolysis by elevated D-dimer, was seen in advanced cancer. Ten ovarian cancer patients died within 13 months after diagnosis and another died at 24 months, all from advanced stage of cancer, except one from stage IC cancer who died at 11 months. The survival rates from the disease at 13 months and 24 months were 66.7% and 45%, respectively. Most of the patients had gone through the complete course of chemotherapy, and those patients still alive have been disease free between 13 and 42 months. No statistical relationships for the hemostatic parameters studied in ovarian cancer patients could be found between those who died and those still living 13 and 24 months after diagnosis, except for ATIII and D-dimer levels. Elevated D-dimer levels were associated with those who died within 13 and 24 months from the disease, and the decreased ATIII levels only reached statistical significance by 24 months. It could be suggested that these two parameters might be useful as systemic prognostic markers in survival outcome from the disease for the first 24 months in advanced ovarian cancer, in addition to the known correlation with the International Federation of Gynecology and Obstetrics stage.
Subject(s)
Fibrinolytic Agents/blood , Hemostatics/blood , Ovarian Cysts/blood , Ovarian Neoplasms/blood , Ovarian Neoplasms/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Antithrombin III/metabolism , Biomarkers/blood , Case-Control Studies , Female , Fibrin Fibrinogen Degradation Products/metabolism , Humans , Middle Aged , Ovarian Neoplasms/mortality , Prognosis , Severity of Illness Index , Survival Rate , Treatment OutcomeABSTRACT
Angiographic embolization is a well documented technique that has been utilized for controlling pelvic hemorrhage. A case is described of a 41-year-old para 3 woman with intractable bleeding following a cesarean hysterectomy for postpartum hemorrhage due to uterine atony and coagulopathy. On angiogram, no bleeding was seen from the uterine vessels. An injection of dye above the origin of the gonadal vessels showed persistent hemorrhage from the left ovarian artery. This report illustrates the importance of intensive resuscitation and supportive measures, and the value of angiographic embolization after failed surgery. It also emphasizes the need to locate the exact bleeding vessel on angiography for embolization to be successful.
Subject(s)
Embolization, Therapeutic , Hysterectomy , Postpartum Hemorrhage/therapy , Adult , Angiography , Female , Humans , Ovary/blood supply , Postpartum Hemorrhage/surgery , Pregnancy , Treatment FailureSubject(s)
Chromosome Deletion , Chromosomes, Human, Pair 3/genetics , Developmental Disabilities/genetics , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Child , Child, Preschool , Chromosome Banding , Developmental Disabilities/physiopathology , England , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/physiopathology , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Karyotyping , Male , New ZealandABSTRACT
The purpose of the present study was to investigate potential prognostic factors in low-grade oligodendrogliomas (LGOs), particularly 1p19q deletion, due to its proven prognostic significance in anaplastic oligodendrogliomas. We carried out a retrospective review of patients with a histological diagnosis of LGO between 1990 and 2000 in Auckland and Wellington, New Zealand. All cases underwent central histopathological review and FISH testing for 1p19q status. Univariate analysis of potential prognostic factors including 1p19q status, age, tumour size, tumour crossing midline, tumour enhancement, extent of surgery and seizures at diagnosis was carried out. Thirty-one patients were eligible and FISH testing was successful in 28 specimens (90%). Twenty-three specimens (82%) had 1p19q deletion; four (14%) had no 1p19q deletion; and one (4%) had 1p deletion alone. At a median follow-up of 87 months (0-147 months), median survival had not been reached and no significant difference in overall survival (OS) based on 1p19q status was detected (1p19q deletion OS 56%; 1p19q intact OS 0%; 1p deletion alone 100% (P = 0.38)). None of the other prognostic factors investigated reached statistical significance. We confirmed the high incidence (82%) of combined 1p19q deletion in LGOs and the feasibility of successful FISH testing in paraffin embedded specimens up to 10-years-old. Analysis of potential prognostic factors was limited by the lack of events during the follow-up period.
Subject(s)
Brain Neoplasms , Oligodendroglioma , Adult , Aged , Brain Neoplasms/diagnosis , Brain Neoplasms/genetics , Brain Neoplasms/mortality , Chromosomes, Human, Pair 19 , Female , Gene Deletion , Genetic Predisposition to Disease/genetics , Humans , Incidence , Male , Middle Aged , New Zealand/epidemiology , Oligodendroglioma/diagnosis , Oligodendroglioma/genetics , Oligodendroglioma/mortality , Prognosis , Retrospective Studies , Risk Assessment , Risk Factors , Survival Analysis , Survival RateABSTRACT
The sales data of oestrogen replacement products for 8 developing countries from 1993 to 1995 were analyzed. The data from Malaysia, Pakistan, Taiwan, Thailand, Indonesia, Philippines and South Korea showed the increasing use of oestrogen replacement products. The total usage however varied widely, from only US$11,153 (Philippines in 1993) to as much as US$6,306,717 (Taiwan in 1995). In Singapore, where oestrogen replacement is an accepted and established form of therapy for the postmenopausal woman, there has been an increase in the usage of the nonoestrogen replacement products. There are multiple reasons for the increasing sales of hormone replacement products in the developing countries and these are explored in this article. In some of the developing countries, for example China and India, hormone replacement therapy has just been introduced. However, in those developing countries in which hormone replacement therapy is already available, sales figures show increasing usage. The future augurs well for hormone replacement therapy.
Subject(s)
Developing Countries , Estrogen Replacement Therapy/statistics & numerical data , Adult , Aged , Cross-Cultural Comparison , Drug Utilization/trends , Female , Forecasting , Humans , Middle AgedABSTRACT
In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 2 , Mutagenesis, Insertional , Trisomy , Adult , Aged , Diabetes Mellitus, Type 1/genetics , Female , Humans , Paranoid Disorders/genetics , Psychotic Disorders/geneticsABSTRACT
In 47 women, the change in the uterine activity after the administration of a uterotonic agent was correlated with the amount of blood loss during the same period of time. Uterine activity was measured by a Gaeltec catheter-tipped pressure transducer inserted transcervically within 5 min of delivery of the placenta. A uterotonic agent (either intravenous syntocinon, intramuscular syntometrine or oral misoprostol) was given after the insertion of the intrauterine pressure catheter and pressure recorded for another 90 min. Blood loss over the same 2-hour period was collected with absorbent paper which was then assessed by colorimetric measurement of the haemoglobin content in the sample. Our results show that the change in uterine activity is associated with the total blood loss. However, there is a poor linear correlation between the two variables probably because of the biological variation in myometrial activity and differences in coagulation mechanisms in normal women.