Oculo-palato-cerebral dwarfism: a new syndrome

Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo-palato-cerebral dwarfism syndrome.     

The establishment of an ovum donation program using a simple fixed-dose estrogen-progesterone replacement regimen

Most ovum donation (OD) programs involve cycle synchronization between recipient and donor for normally cycling recipients and a complex estrogen-progesterone replacement regimen for recipients with ovarian failure. In 1987, Serhal and Craft (1) suggested the use of a fixeddose estrogen-progesterone regimen for recipients who were normally ovulatory and to those with ovarian failure. Following this protocol, and simplifying it still, the authors administered 6 mg estradiol valerate (E₂) daily orally starting on day 2–6 of induced withdrawal bleeding, augmented with 100 mg progesterone in ethyl oleate (P) intramuscularly daily, starting any time between 4 days prior to and the day of oocyte pickup. All recipients underwent embryo transfer at a 2-pronuclei (2PN)-10-cell stage. A group of 21 patients underwent 26 treatment cycles, resulting in 16 pregnancies. Twelve of the patients gave birth, one to triplets, two to twins, and nine to singletons. Four patients miscarried in the first trimester of pregnancy.     

Transforming growth factor-beta and gamma-interferon have dual effects on growth of peripheral glia

The influence of transforming growth factor-beta (TGF-beta) and gamma-interferon on DNA synthesis in Schwann cells and enteric glia in culture has been studied. TGF-beta stimulated the DNA synthesis of short-term (less than 2 weeks in culture) Schwann cells, whereas gamma-interferon was ineffective. The stimulatory effect of TGF-beta was additive to the stimulation of DNA synthesis due to axonal membrane fragments. In contrast to their effect on short-term Schwann cells, both TGF-beta and gamma-interferon inhibited DNA synthesis in enteric glial cells and in long-term (over 3 months in culture) Schwann cells. When short-term Schwann cells were stimulated to divide by axolemma or glial growth factor, gamma-interferon did not inhibit this enhanced DNA synthesis although it suppressed DNA synthesis induced by cAMP analogues. These results raise the possibility that TGF-beta and gamma-interferon might have a role in controlling glial proliferation during development and/or regeneration of the peripheral nervous system.     

Plasma corticosterone is increased and correlated with brain acetylcholine in physostigmine- but not in neostigmine-treated rats

Rats were given intraperitoneal injections of physostigmine (PHYSO), neostigmine (NEO) or saline (SAL). Either 15 or 30 min later the number and intensity of observable cholinomimetic effects (OCE) was determined, plasma was collected for corticosterone (Cst) measurement, and the cerebral cortex, striatum, hippocampus and hypothalamus were removed after microwave treatment for the measurement of tissue acetylcholine (ACh) and choline (Ch) concentrations. Plasma Cst correlated with the number of OCEs at both 15 and 30 min in both NEO- and PHYSO-treated animals. Although the number and intensity of OCE were the same in NEO- and PHYSO-treated animals 15 min after injection, plasma Cst was significantly higher in the PHYSO-treated group. ACh levels in the cortex were also increased in PHYSO- compared with NEO-treated animals 15 min after injection. Ch levels remained unchanged. Plasma Cst correlated positively with ACh levels in the cortex and striatum in PHYSO-treated rats both 15 and 30 min after injection. These data support the involvement of central cholinergic mechanisms in the regulation of the HPA axis.     

Value of chest ultrasonography versus decubitus roentgenography for thoracentesis

Chest ultrasonography (CU) has been advocated as an effective tool for diagnosis and localization of pleural fluid. Studies to date supporting the technique have been anecdotal and nonrandomized. To determine if CU was beneficial when thoracentesis was performed by clinicians or house staff, we evaluated prospectively 205 patients presenting with pleural effusion at 2 community teaching hospitals. Decubitus roentgenograms were obtained on all patients, but CU with targeting by skin marker was performed on a randomized basis. Results were evaluated as to (1) whether the quantity of fluid obtained was sufficient for the intent of the procedure, (2) the number of needle insertions required to obtain the fluid, and (3) the incidence of complications such as pneumothorax. One hundred three effusions were evaluated by CU and 102 by roentgenography alone. The effusions in each group were stratified as small (obliteration of less than half of the hemidiaphragm on roentgenogram) or large. Small effusions were further stratified as free flowing or loculated (no layering of fluid on decubitus roentgenograms). By chi-square test, CU was significantly superior to decubitus roentgenograms alone for obtaining adequate fluid samples in small effusions (p less than 0.01). This was true regardless of whether the effusion was loculated (p less than 0.02) or free flowing (p less than 0.05). The technique had no such advantage in large effusions. We did not find that CU significantly reduced the need for multiple attempts nor incidence of complications in any group.     

Glucocorticoid regulation of hippocampal oxytocin receptor binding

The effects of glucocorticoid hormones on oxytocin receptors in rat hippocampus were investigated. Oxytocin receptor autoradiography (using 0.1 and 1.2 nM concentrations of [¹²⁵I]OVTA) revealed a significant (P < 0.02) decrease in oxytocin receptor binding in adrenalectomized animals 7 days after the surgery. Corticosterone replacement at the time of adrenalectomy prevented the decrease in oxytocin binding. The findings were significant in hippocampus and subiculum. These findings suggest regulation of oxytocin receptors, and possibly oxytocin-regulated behaviors by glucocorticoids.     

Children's Adjustment to Parental Death

This article reviews the evidence regarding the effects of parental death on children's acute and long-term psychological adjustment, as well as the clinical literature describing interventions for bereaved families. The risk of adjustment difficulties for bereaved children has shown no consistent relation to complications of grieving, but is instead largely accounted for by an increased probability of inadequate care following the loss of a parent. The literature describing interventions for bereaved families offers little formal evaluation, and reflects our incomplete understanding of children's grief responses, and thus of appropriate treatment goals. Further research should focus on more molecular analysis of grief processes, including grief-related interactions between children and parents, and should take into account developmental variation in children's needs and experiences. The use of multiple informants of child and parent behavior is strongly recommended, and the unique contributions of longitudinal research in understanding children's adjustment to loss are highlighted.     

Pulmonary aspergillosis masquerading as progressive post-transplant lymphoma

We report a patient with post-transplant lymphoma who was treated by renal allograft nephrectomy, discontinuation of immunosuppressive therapy, and initiation of acyclovir administration. Despite these measures he appeared to have progressive lymphoma. Had a biopsy and cultures not been done, the diagnosis of aspergillosis would have been missed and the patient might have been treated with chemotherapy, with a potentially lethal outcome. Data from the Cincinnati Transplant Tumor Registry indicate that of 662 patients treated for post-transplant lymphoma, 277 patients died of cancer and 137 died of other causes, of which infection was a major factor. This case emphasizes the importance of proper work-up of patients with apparently progressive lymphomas.