Professional Documents
Culture Documents
circumstances was the reliance on inotropes or vas- the patients, trying to see the world through their
opressors to sustain life. But the other three factors eyes and to divine what they would do if they had the
involved more subjective judgments by the ICU phy- cognitive ability to do it. As a result, when I am staff-
sicians: their predictions of survival and cognitive ing the ICU, I spend many hours in family meetings
function beyond the ICU and their perceptions of that often involve not only the patient’s extended
the patient’s preferences. Thus, we influence the de- family, but also close friends, members of the cler-
cision-making process by virtue of how we forecast gy, and social workers. Peter Dodek, a coinvestiga-
the patient’s future, and the family influences us by tor in the current study, noted that ICU physicians
helping us to understand the patient’s desires. ask many more questions of family members than
Since these discussions carry such weight, many they were trained to ask 20 years ago, and spend
of us who have the privilege of working in an inten- more time listening to the answers. “I provide the
sive care setting fear that our own biases about a medical facts and then I ask questions. By that early
patient will color our interactions with the family, listening process, I’m not creating the outcome.
which could, in turn, influence what family mem- It’s not me telling them what to do. . . . My job is
bers say about the patient’s preference — thus creat- to synthesize the medical facts with the patient’s
ing a self-fulfilling prophecy. Indeed, in interviews preference to come up with a plan. . . . Yes, I’m
conducted after the current report was accepted creating the outcome because I’m stating the plan,
for publication, some of the investigators noted the but I want to be sure that I’ve incorporated the pa-
near-impossibility of conveying their predictions tient’s preferences. I’m not trying to satisfy myself;
to patients’ families without, in part, influencing the I’m trying to satisfy what the patient would want.”
outcome. In the words of Gordon Guyatt, one of In the struggle to understand what a patient in
the study’s investigators, “There’s no question that the ICU would want if he or she could give us the
the way the clinician presents information to the pa- direction we desperately seek, this research shows
tient and family has a profound effect on the family’s that we must be very careful as we speak with the
decision.” patient’s family and close friends. We must try to see
But as we gain a better understanding of the im- the problem through the patient’s eyes and make
portance of the partnership between clinicians and decisions in the patient’s best interest. The words
families in reaching one of the most heart-wrench- of Francis Peabody still ring true: “. . . the secret
ing decisions in medical practice or in a family’s life, of the care of the patient is caring for the patient.”
we are asking more questions. We are focusing on I am indebted to Sandra Jacobs for research assistance.
In this issue of the Journal, Kofoed et al. (pages 1139– fested by a height at a chronologic age of 16.5 years
1147) describe a novel mechanism for impaired that would be average for a child 6.5 years of age.
growth in the form of a mutation in the gene for the This phenotype could arise from several well-recog-
intracytoplasmic protein signal transducer and acti- nized perturbations in the growth hormone system.
vator of transcription 5b (STAT5b). The mutation The growth pattern characteristic of early acquired
disrupts the intracellular signaling that promulgates or congenital growth hormone deficiency owing to
the physiologic effects of growth hormone. This a mutation in the gene for the growth hormone–
finding illuminates an important arena of molec- releasing hormone receptor, growth hormone, or a
ular genetic abnormalities involving the growth hor- pituitary transcription factor such as PIT-1 would
mone–insulin-like growth factor I (IGF-I) axis. have been indistinguishable from that observed in
The most striking feature of the patient described the patient. The finding of elevated serum growth
by Kofoed et al. is profound growth failure, mani- hormone levels in conjunction with a low level of
impairments in reproduction and lactation. It is directed studies of patients with both growth fail-
interesting that pubertal development was delayed ure and immune dysregulation. The demonstration
in the patient described by Kofoed et al., and it re- of precise molecular genetic defects paves the way
mains to be seen whether abnormalities in body for the identification of innovative therapies tar-
composition or reproductive function will emerge geted to specific functional abnormalities within
over time. It is clear that neither STAT5a nor the cells, as has recently occurred in the case of chronic
other STATs can substitute for STAT5b in promot- myeloid leukemia. Irrefutably, what we currently
ing linear growth. understand about the intricacies of the growth hor-
A fascinating aspect of this case report is the mone–signaling cascade is minuscule as compared
long history of compromised immunologic func- with what remains to be elucidated. Clearly, a new
tion. This finding fits well with the proposed obli- era in the conceptualization of growth disorders
gate role of STAT5b in the activation of T cells and is upon us.
the response to immune modulators such as inter-
feron, interleukin-2, and interleukin-3. Indeed, rec-
From the Section of Pediatric Endocrinology and Diabetology, De-
ognition of these seemingly disparate consequenc- partment of Pediatrics, Riley Hospital for Children, Indiana Univer-
es of a single mutation will undoubtedly prompt sity School of Medicine, Indianapolis.