Gender assignment in female congenital adrenal hyperplasia: a difficult experience

OBJECTIVE: To report experience of gender (re)assignment in genotypic female (46XX) patients with congenital adrenal hyperplasia (f-CAH), a difficult and stressful experience if complicated with delayed presentation and inadvertent assignment. PATIENTS AND METHODS: Between 1983 and 2002, 70 patients with f-CAH were counselled for gender assignment. The age at diagnosis and operation, the degree of virilization, parental consanguinity, the gender preference of the families, and the factors governing the decision-making process were determined. RESULTS: Forty-one (59%) patients presented after the neonatal period. All parents had already assumed or were advised of a gender for their children, based on the suggestive appearance of the external genitalia. Consequently, 49 patients were reared as female and 21 as "male". Only nine of these "males" could be reassigned as females (mean age at presentation 7.87 months, sd 10.42). Twelve children had to be reared as "male"(mean age at presentation 55.8 months, sd 32.42) in compliance with the parents' and the study group's decision, and appropriate masculinizing reconstructive surgery was undertaken. The difference in the mean age of those reassigned as female and those who remained "male" was significant (P < 0.001). The parental consanguinity rate among the families was especially high in the 'male' patients. CONCLUSIONS It is extremely difficult to correct the gender of patients with f-CAH when they present at >2.5 years old. Furthermore, the delay in diagnosis and the male bias in choice of gender in our population might be a result of strong social pressures on families, influenced by cultural, traditional and economic factors.     

Intraosseous conduit-induced enhancement of ingrowth of blood vessels into the necrotic femoral head of rats

Abstract Following severance of the blood supply to the left femoral head of 6-month-old rats by incising the periosteum of the neck and cutting the ligamentum teres, a 21-gauge needle, inserted into the foveola, was pushed forward in the direction of the neck up to the opposite cortical bone. Femora were obtained for histological examination on postoperative days 32 and 42, from 22 and 12 rats, respectively. The right femoral heads were normal. In addition to the usual reparative and regressive changes characteristic of the second month after induction of osteonecrosis, the left femoral heads showed, compared to the femoral heads of otherwise untreated rats, lavish ingrowth of blood vessels and proliferation of mesenchymal cells. Moreover, 16 of the 34 femoral heads disclosed additional distinctive lesions, namely, partial fibrous replacement, surface depression, intraosseous tunneling, and subtotal destruction of the epiphysis. The results of this experiment, an attempt at modeling core decompresssion in man, parallel the frequently reported unsatisfactory outcome of the procedure in patients with osteonecrosis of the femoral head. They as well indicate that any therapeutic effects of producing an epiphyseal-metaphyseal conduit for the ingrowth of vessels and cells may only be achieved at the cost of a reduction in the mechanical load-bearing capacity of the femoral head.     

Estradiol down-regulates CD36 expression in human breast cancer cells

CD36 is a trans-membrane receptor that regulates apoptosis and angiogenesis in response to its ligand thrombospondin-1 (TSP-1). This study measures expression of CD36 and TSP-1 in breast cancer cell lines. Expression of TSP-1 was approximately 50-fold higher in the aggressive cell line MDA-MB-231 than in less aggressive MCF-7, BT-474, ZR-75 and T47-D cells. In contrast, MDA-MB-231 express 30 to 100-fold less CD36 than less aggressive cells. Hormone-dependent T47-D and MCF-7 cells down-regulate CD36 in response to estradiol, and anti-hormone ICI 182,780 block this effect. These results suggest that the estrogen receptors play a role in regulating CD36 expression and ICI 182,780 prevents loss of CD36 as a novel mechanism for its anti-estrogen effect in breast cancer cells.     

Comparison of effects on left ventricular filling pressure of intravenous nesiritide and high-dose nitroglycerin in patients with decompensated heart failure

The results of this study showed an advantage of nesiritide compared with high-dose nitroglycerin in the treatment of patients with decompensated heart failure. Nesiritide resulted in an early decrease in pulmonary capillary wedge pressure (< or =15 minutes), which was sustained throughout the study period (24 hours) without the need for up-titration. In contrast, the onset of the nitroglycerin-mediated hemodynamic effect was delayed, and despite aggressive up-titration, the decrease in pulmonary capillary wedge pressure was gradually attenuated because of the early development of tolerance.     

Pakistan mental health country profile

The Republic of Pakistan is a South East Asian country with a population of over 140.7 million. Its population is fast growing and the majority (70%) live in rural areas with a feudal or tribal value system. The economy is dependent on agriculture and 35% of the population live below the poverty line. Islam is the main religion and 'mental illnesses' are stigmatized and widely perceived to have supernatural causes. The traditional healers along with psychiatric services are the main mental health service providers. The number of trained mental health professionals is small as compared to the population demands and specialist services are virtually non-existent. Lack of data on prevalence of various mental illnesses and monitory constraints are the major hurdles in the development of mental health services. A number of innovative programmes to develop indigenous models of care like the 'Community Mental Health Programme' and 'Schools Mental Health Programme' have been developed. These programmes have been found effective in reducing stigma and increase awareness of mental illness amongst the adults and children living in rural areas. Efforts by the government and mental health professionals have led to the implementation of a 'National Mental Health Policy' and 'Mental Health Act' in 2001. These aim at integrating mental health services with the existing health services, improving mental health care delivery and safeguarding the rights of mentally ill people. A favourable political will and the help of international institutions like the World Health Organization are required to achieve these aims.     

Byler's disease and anesthetic consideration

Byler's disease is an autosomal recessive condition characterized by intrahepatic cholestasis, progressive fibrotic changes and finally cirrhosis that leads to death during childhood. This is a report of a six-year-old girl with Byler's disease and retrobulbar hematoma as a result of trauma who underwent enucleation and implantation. This case report describes the anesthetic features of a patient with Byler's disease in which anesthetic agents with no or minimal hepatotoxic effect should be used to avoid deterioration of liver function.     

The burden of disease from neonatal mortality: a review of South Asia and Sub-Saharan Africa

Objective To assess the burden of neonatal mortality in two developing regions.
Design Review of secondary data collated through literature review.
Setting Community and facility based studies and national health surveys.
Population Neonatal (<28 days) population of South Asia and Sub-Saharan Africa.
Methods Data on neonatal mortality were gathered from peer-reviewed literature, reports of the Demographic and Health Surveys and websites of country-based organisations. The base year for this study is 1995. For each country, a weighted mean neonatal mortality rate was calculated and the total number of neonatal deaths estimated. Country data were summarised over each region to estimate annual regional neonatal deaths and rates. The burden of disease from neonatal mortality was determined using a summary measure of health—healthy life years.
Main outcome measures Numbers of deaths and healthy life years (HeaLYs).
Results Neonatal mortality rate for South Asia ranged from 41.9 to 56.9 per 1000 live births for 1995. Sri Lanka was an exception with a neonatal mortality rate between 16.3 and 18.6 per 1000 live births. The estimated regional neonatal mortality rate for South Asia was 46.27 per 1000 live births for 1995. There was a significant lack of data from Sub-Saharan Africa, resulting in highly variable neonatal mortality rates, ranging from 13 per 1000 live births in Kenya to 108 per 1000 live births in Senegal. The mean regional neonatal mortality for Sub-Saharan Africa for 1995 was estimated at 38.8 per 1000 live births.
Conclusion The burden of neonatal mortality in only these two regions of the developing world represents more than 2 million annual deaths. A call for greater investments in neonatal research and health programs is a logical extension to this review of evidence.     

Survival and prognostic factors in patients with synchronous ovarian and endometrial cancers and endometrial cancers metastatic to the ovaries

PURPOSE: To compare the survival and prognostic factors of patients with synchronous primary ovarian and endometrial cancers, and endometrial cancers metastatic to the ovaries. PATIENTS AND METHODS: Fifty-three patients with synchronous primary ovarian and endometrial cancer and 64 patients with endometrial cancer metastatic to the ovaries were evaluated. RESULTS: Mean follow-up time was 47.2 months (18-170 months). There was no statistical difference in age, gravidity and parity between the two groups. Abnormal vaginal bleeding was the most common symptom in both groups. All patients were subjected to a surgical staging procedure. Overall survival of the synchronous group was significantly higher than that of the metastatic group (98 +/- 12 vs 59 +/- 6 months; p = 0.048). The significant prognostic factors for synchronous cancers after multivariate analysis were age, stage of ovarian cancer, grade of endometrial cancer, and adjuvant therapy status. CONCLUSION: Patients with synchronous ovarian and endometrial cancers appear to have a good prognosis and should undergo primary surgical staging since the stage of tumors is a significant prognostic factor.     

Chronic invasive fungal sinusitis: a report of two atypical cases

The purpose of this article is to describe a chronic variant of invasive fungal sinusitis (IFS) and discuss its management. This is a retrospective review of two cases of IFS that were characterized by atypical clinical courses. Patient 1 was a 75-year-old man with noninsulin-dependent diabetes mellitus who came to us with a 5-month history of headache. Computed tomography detected an opacified left sphenoid sinus. After the man failed to respond to medical therapy, he underwent a left endoscopic sphenoidotomy. Pathologic examination revealed that septate, branching fungal hyphae had invaded the soft tissues. The patient was started on oral itraconazole, but later switched to intravenous amphotericin B in response to intracranial extension. The man's disease stabilized, but he died a little more than 1 year later of unrelated causes. Patient 2 was an otherwise healthy 41-year-old woman who came to us with nasal congestion and unilateral nasal polyps. She underwent endoscopic sinus surgery. Pathologic examination identified granulomatous sinusitis and septate, branching fungal hyphae that had invaded the soft tissue of the middle turbinate. The patient was not treated with systemic antifungal medications because of the localized nature of the fungal invasion and the lack of bone invasion or erosion. She has now been symptom-free for 5 years. These two cases demonstrate that IFS can appear in a chronic variant form that is characterized by an indolent course and histologic evidence of tissue invasion by fungal hyphae. The type of treatment is dependent on the extent of the disease on initial examination and the rapidity of its progression.