Patients with 46,XY CGD, or Swyer syndrome, are phenotypically female with normal Müllerian structures and bilateral streak gonads [18]. They most commonly present in adolescence with delayed puberty or primary amenorrhea due to their non-functional gonads. Physical exam reveals normal female external genitalia. Endocrine evaluation usually shows hypergonadotropic hypogonadism with elevated basal LH and FSH, as the gonads are not functional. Imaging studies, including pelvic ultrasound or MRI, demonstrate the presence of a uterus and may show bilateral streak gonads. If gonadectomy or gonadal biopsy is performed, gonadal histology reveals the presence of bilateral dysgenetic streak gonads. Tumor markers including AFP, β-hCG, and LDH are known to be associated with germ cell malignancy. Although the evidence for routinely sending serum tumor markers for screening purposes in patients with XY CGD is lacking, positive tumor markers in the setting of a gonadal mass on pre-operative imaging and/or discordant pubertal characteristics (i.e., precocious puberty or virilization) suggests that a staged surgical procedure is necessary [19]. Finally, chromosomal analysis reveals a 46,XY karyotype. Mutations and deletions in the SRY (sex-determining gene on the Y chromosome) have been reported in the literature to account for 10-20% of the cases of 46,XY CGD [17, 20]. Other mutations identified have included NR5A1 (9q33) [16, 20, 21], DHH (12q13.1) [3, 20], NROB1 (DAX 1) [3, 16], WNT4 [3, 16], DMRT1 (9p24.3) deletion [3, 16, 22], CBX2 (17q25) deletion [23], and a heterozygous mutation in MAP3K1 (5q11.2) [24]. In many cases, the cause of XY CGD remains unknown.
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Surgical management: laparoscopy and gonadal biopsy may be indicated. If the patient has a gonadal mass on pre-operative imaging and/or discordant pubertal characteristics, consider serum tumor markers, including AFP, LDH, and beta-hCG, for preoperative planning. If tumor markers are positive, a staged surgical procedure (laparotomy instead of laparoscopy) is indicated.
XY PGD includes a heterogeneous group of individuals with varying degrees of clinical phenotypes and various karyotypes. Included in this group are patients with Turner syndrome who have a mosaic karyotype, usually 45,X/46,XY. The most common karyotype of patients with XY PGD is 45,X/46,XY, but others may have 46,XY or 45,X/47,XYY. Patients can have a spectrum of presentations, including females with a Turner syndrome phenotype, ambiguous genitalia, under-virilized males, or normal phenotypic males [25]. Phenotypically normal males with 45,X/46,XY may not be diagnosed unless they are evaluated in adulthood for infertility secondary to reduced sperm production from dysgenetic testes [26]. Imaging shows absent to fully developed Müllerian structures, depending on the degree of testicular dysgenesis. Gonadal histology may reveal either bilateral dysgenetic testes or one streak gonad and a contralateral dysgenetic or normal-appearing testis. As seen in patients with XY CGD, patients with XY PGD often show evidence of hypergonadotropic hypogonadism with elevated basal LH and FSH levels at the age when puberty normally occurs. Patients with PGD have been shown to have a diphasic pattern of LH and FSH secretion whereby gonadotropin concentrations are significantly elevated during infancy, fall to nearly normal values during childhood, and return to significantly elevated levels after the normal age of puberty [27, 28]. Measurements of serum testosterone and anti-Müllerian hormone (AMH) usually are decreased, and human chorionic gonadotropin (hCG) stimulation testing usually shows minimal to no elevation in testosterone levels in response to hCG. The evidence for routinely sending serum tumor markers such as AFP, LDH, and beta-hCG for screening purposes in patients with XY PGD is lacking. As discussed for XY CGD, positive tumor markers in the setting of a gonadal mass on pre-operative imaging and/or discordant pubertal characteristics would suggest that a staged surgical procedure is necessary [19]. Mutations have been described in SRY [3, 16], NR5A1(9q33) [29, 30], DHH (12q13.1) [3], NROB1 (DAX 1) [3, 16], and WNT4 [3, 16].
The IUP Taskforce on Accessibility Guidelines committee implemented policies and procedures on electronic information technology accessibility. Further information, including that statement of non-discrimination, can be found on the Government's Section 508 of the Rehabilitation Act.
Mission: Our purpose is to foster interest in Emergency Medicine, a specialty for those who want to engage in a variety of procedures and skills to help patients at their most vulnerable. Our goals are to introduce our fellow students to all the amazing things EM physicians do, as well as help develop skills they will need for rotations and beyond. Our purpose is to expose the incoming medical students to the world of emergency medicine and the subspecialties it has to offer in modern healthcare system. We will also provide physicians panels that will go over residency applications, lifestyle, and future of the profession.
An organization possesses three kinds of knowledge: tacit knowledge, explicit knowledge and cultural knowledge. Tacit knowledge is the personal knowledge that is learned through extended periods of experiencing and doing a task, during which the individual develops a feel for and a capacity to make intuitive judgements about the successful execution of the activity. Explicit knowledge is knowledge that is expressed formally using a system of symbols, and may be object-based or rule-based. Knowledge is object-based when it is represented using strings of symbols (documents, software code), or is embodied in physical entities (equipment, substances). Explicit knowledge is rule-based when the knowledge is codified into rules, routines, or operating procedures. Cultural knowledge consists of the beliefs an organization holds to be true based on experience, observation, reflection about itself and its environment. Over time, an organization develops shared beliefs about the nature of its main business, core capabilities, markets, competitors, and so on. These beliefs then form the criteria for judging and selecting alternatives and new ideas, and for evaluating projects and proposals. In this way an organization uses its cultural knowledge to answer questions such as 'What kind of an organization are we?' 'What knowledge would be valuable to the organization?' and 'What knowledge would be worth pursuing?' Organizations continuously create new knowledge by converting between the personal, tacit knowledge of individuals who develop creative insight, and the shared, explicit knowledge by which the organization develops new products and innovations (Nonaka & Takeuchi, 1995).
Completely rational decision making requires information gathering and information processing beyond the capabilities of any organization. In practice, organizational decision making departs from the rational ideal in important ways depending on: (1) the ambiguity or conflict of goals in the decision situation (goal ambiguity or conflict), and (2) the uncertainty about the methods and processes by which the goals are to be attained (technical or procedural uncertainty). In the boundedly rational mode, when goal and procedural clarity are both high, choice is guided by performance programmes (March & Simon, 1993). Thus, decision makers 'simplify' their representation of the problem situation; 'satisfice' rather than maximize their searches; and follow 'action programmes' or routinized procedures. In the process mode (Mintzberg et al., 1976), when strategic goals are clear but the methods to attain them are not, decision making becomes a process that is highly dynamic, with many internal and external factors interrupting and changing the tempo and direction of the decision process. In the political mode (Allison & Zelikow, 1999), goals are contested by interest groups but procedural certainty is high within the groups: each group believes that its preferred alternative is best for the organization. Decisions and actions are then the results of the bargaining among players pursuing their own interests and manipulating their available instruments of influence. In the anarchic mode (also known as the Garbage Can model of decision making) (Cohen et al., 1972), when goal and procedural uncertainty are both high, decision situations consist of independent streams of problems, solutions, participants, and choice opportunities arriving and leaving. A decision then happens when problems, solutions, participants, and choices coincide. When they do, solutions are attached to problems, and problems to choices by participants who are present and have the interest, time and energy to do so.
Conditioned viewing, again from Aguilar (1967), occurs when the organization perceives the environment to be analyzable but is passive about gathering information and influencing the environment. Information needs focus on a small number of relatively well-defined issues or areas of concern. These are often based on widely-accepted industry assumptions and norms. Information seeking makes use of standard procedures, typically employing internal, non-people sources, with a significant amount of data coming from external reports, databases, and sources that are highly respected and widely used in the industry. Thus, viewing is conditioned in the sense that "it is limited to the routine documents, reports, publications, and information systems that have grown up through the years." (Daft & Weick, 1984: 289) Because the environment is assumed to be knowable, there is less need for equivocality reduction, with a greater number of rules that can be applied to assemble or construct a plausible interpretation. 2ff7e9595c
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