Sex chromosome micromosaicism in infertile men with normal karyotypes.

OBJECTIVE: To define the prevalence of low-level sex chromosome mosaicism in a cohort of infertile men. DESIGN: Prospective cohort study of infertile men. SETTING: Tertiary university infertility center. PATIENT(S): One hundred one consecutive men who presented with primary infertility for evaluation. INTERVENTION(S): Fluorescent in situ hybridization for X and Y was performed on 200 cells, and if an aberrant sex chromosome complement was noted, 400 cells were counted. For this study, any abnormality in sex chromosome complement was defined as micromosaicism. MAIN OUTCOME MEASURE(S): Low-level sex chromosome mosaicism. RESULT(S): Sixty-seven of these men (67%) had no mosaicism, and 34 men (34%) had micromosaicism. The median percentage of abnormal chromosomes in these men was 2%. The mean age of the men without micromosaicism was lower than for men with micromosaicism (31.1 years vs. 35.2 years). A trend toward higher FSH levels in men with low-level mosaicism was seen. Median sperm density and percent motility were higher in normal men. Percent normal morphology was identical between groups. CONCLUSION(S): We found low-level sex chromosome mosaicism in 34% of infertile men who presented for evaluation. Men with low-level mosaicism were significantly older. Low-level mosaicism may emerge with advancing age and may therefore help to explain the decline in fertility potential seen in older men.

Primary cutaneous follicle center lymphoma of the arm with a novel chromosomal translocation t(12;21)(q13;q22): a case report.

We report a reciprocal translocation between the long arms of chromosomes 12 and 21, t(12;21)(q13;q22), in a patient with primary cutaneous follicle center lymphoma. Follicle center lymphoma of the skin and follicle center cell lymphoma of the lymph node are morphologically and immunophenotypically very similar. However, the clinical behavior and prognosis of these tumors are different due to the molecular basis of these malignancies. Follicle center cell lymphoma of the lymph node is determined by the presence of a unique translocation between chromosomes 14 and 18, t(14;18)(q32;q21), BCL-2-JH gene rearrangement, that is not present in primary cutaneous follicle center lymphomas. Chromosomal translocations in the primary skin lymphomas have not been previously reported. We hope that our discovery of a new translocation t(12:21)(q13q22) will encourage further investigation into the molecular basis of this translocation and other cytogenetic abnormalities in primary cutaneous B-cell lymphomas.

Medical care on the brink: the need for re-engineering healthcare services in sub-Saharan Africa.

The sub-Saharan region of Africa is home to more of the ills of mankind than any other region on earth. Nowhere is the aggregate of disease, political turmoil, inadequate resources and a crumbling infrastructure so completely packaged in a seemingly "escape proof" pod as in sub-Saharan Africa. This continent is a kaleidoscope of people and problems derived from artificial boundaries drawn by European colonial powers, resulting in a litany of problems that have flourished for many decades. In the immediate postcolonial era, there was some oversight by the departed powers, but this has changed recently with decreasing interest in African affairs and only episodic worldwide news coverage because of other world events that overshadow Africa and its problems. The end of the cold war also eliminated the attention Africa received when the superpowers were courting nations. The American Medical Team for Africa has conducted medical missionary work throughout Africa for over a decade and, through its observations, has developed recommendations that are germane to all of sub-Saharan Africa. The organization thinks that this might warrant the attention of governments, international pharmaceutical houses, foundations, the United Nations and all international aid agencies concerned about the plight of healthcare in Africa. These recommendations should enable these countries to re-establish an affordable, efficient and sustainable infrastructure for basic hospital services so that they can diagnosis, monitor, treat and manage disease populations. In some areas, Africa needs to be retrofitted with technology from the past, while in others it needs to be fast-forwarded into the future. The purpose of this manuscript is to try putting the various healthcare challenges into one of these two categories.

Medical volunteers: guidelines for success and safety.

Many African Americans from a variety of medical specialties are interested in satisfying a life-long dream of visiting Africa by volunteering their services to faith-based and private volunteer organizations doing missionary work on the continent. While this can be an extremely rewarding experience in which measurable good can be accomplished, this path can also be strewn with many obstacles that will affect both the success of the mission and the personal well-being of the volunteer. The American Medical Team for Africa is a nonprofit, tax-exempt, volunteer organization that has been doing medical missionary work in Africa since 1993. This manuscript is a compilation of this 10-year experience that has established some very useful guidelines for insuring a successful and safe mission if you are fortunate enough to have this opportunity.

Private volunteer medical organizations: how effective are they?

Religious and other secular organizations have been involved with medical missionary work in sub-Saharan Africa for centuries, especially in remote provinces and villages. In times past, most of these countries were under the control of foreign powers. Private volunteer organizations operated within a structured environment, which, perhaps, facilitated their mission and their ability to review and evaluate their effectiveness because of the tight control the colonial powers maintained over every facet of native life. However, the transition from colonialism to independence has resulted in a different environment in which healthcare is fragmented and a low priority in most countries because of financial constraints. The lack of standardization, vintage laboratory equipment, a manual medical record system, lack of a subsidized transportation system, infrequent postal service and the absence of phone systems in the remote provinces and villages make treatment and tracking of patients, monitoring therapy and measuring outcomes/results difficult. Therefore, judging the effectiveness of an initiative in remote district hospitals and village clinics can be difficult. This manuscript addresses some of these issues and provides solutions to some that have been effective for one organization.