Primary hypothyroidism presenting as ovarian tumor and precocious puberty in a prepubertal girl.

We report a case of a prepubertal girl with juvenile primary hypothyroidism presenting as ovarian cysts and precocious puberty. The 7-year-old female was referred to our clinic because of a pelvic/abdominal mass and vaginal bleeding. Besides these findings, on physical examination we noticed the thyroid gland globally increased and the presence of secondary sexual characteristics. Based upon the clinical profile and investigations, the patient was diagnosed with juvenile primary hypothyroidism due to autoimmune thyroiditis. The cysts and precocious puberty resolved spontaneously after the simple replacement of thyroid hormone. It is important to bear in mind hypothyroidism in cases of girls presenting ovarian cysts and precocious puberty in order to avoid unnecessary surgery on the ovaries.     

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

Coupling of lactose molecules to the carrier protein hinders the spleen and bone marrow uptake of doxorubicin conjugated with human albumin.

Several attempts have been made to enhance doxorubicin (DOXO) concentrations in tumour cells by drug conjugation with human albumin (HSA). HSA-DOXO has the drawback of causing DOXO accumulation in spleen and bone marrow, with a consequent leucopoenia not produced when lactose molecules are coupled to the carrier protein. In the present experiments we demonstrated that the effect of HSA lactosamination is not a consequence of a more rapid disappearance from the bloodstream of the lactosaminated conjugate (L-HSA-DOXO), which is rapidly internalized by the liver through the asialoglycoprotein receptor, but is due to a hindered uptake by spleen and bone marrow cells caused by the coupled lactose molecules. Experiments in vitro showed that HSA-DOXO produced an inhibition of murine macrophage proliferation not caused by L-HSA-DOXO. This result can be explained by higher amounts of the former conjugate entering in these cells and suggests macrophages as the cell type responsible for the spleen and bone marrow internalization of HSA-DOXO hindered by lactose coupling. Importantly, lactosamination of HSA did not reduce the marked uptake of HSA-DOXO by chemically induced rat hepatocellular carcinoma. L-HSA-DOXO, by avoiding DOXO accumulation in bone marrow is an attractive candidate for clinical trials against tumors which were found to actively internalize this conjugate in laboratory animals, such as hepatocellular carcinoma.     

Revisiting the prognostic role of gallium scintigraphy in low-grade Non-Hodgkin’s lymphoma

The purpose of this study was threefold: to evaluate the role of gallium-67 scintigraphy in the staging of low-grade non-Hodgkin’s lymphomas (LGNHL), to assess the relationship between the expression of CD71 on the surface of the neoplastic cells and the ⁶⁷Ga uptake by the tumour, and to establish the contribution of ⁶⁷Ga scan in defining the prognosis of LGNHL. Forty-eight patients with untreated LGNHL diagnosed in a single institution over a decade were reviewed. The end point of the study was survival of the patients according to the scintigraphic ⁶⁷Ga score at diagnosis. In addition to ⁶⁷Ga scan, other prognostic variables were studied, relating to the neoplastic burden, the biology of the tumour and the host. Univariate and multivariate analyses were used. ⁶⁷Ga scan identified only 116/286 (41%) nodes involved by lymphoma that were detected by clinical examination or computed tomography scan. A scintigraphic scoring system with an arbitrary cut-off value of 3 (high scan score) was able to predict patients with a dismal prognosis: with a mean follow-up of 47 months (range: 1–146 months) the median survival time was 28 months in patients with a high scan score and 74 months in patients with a low scan score (P=0.002). CD71 values were 27.4%±14.9% (mean ±SD) in the former and 8.9%±7.2% in the latter (P=0.0001). Only performance status and extranodal sites were significant variables for prognosis in multivariate analysis. It is concluded that ⁶⁷Ga scan is inaccurate in staging but might be very important in defining the prognosis in LGNHL, in association with other prognostic variables. Received 1 May and in revised form 6 August 1997     

Postoperative nausea and vomiting (PONV) after orthognathic surgery: a retrospective study and literature review.

PURPOSE: Postoperative nausea and vomiting (PONV) is the most common postoperative complication after surgery and general anesthesia. PONV occurs primarily within the first 24 hours and can lead to significant morbidity, delayed hospital discharge, increased hospital costs and perhaps most importantly, poor patient satisfaction. We sought, in this study, to determine the prevalence of PONV and to identify risk factors in patients who underwent orthognathic surgery. PATIENTS AND METHODS: We conducted a retrospective cross-sectional analytic survey of 553 consecutive patients over 14 years of age, who underwent maxillary and/or mandibular osteotomies at Kaiser Permanente Hospital (Oakland, CA), between January 2003 and March 2004. Patient-, anesthesia- and surgery-related factors that were considered to have a possible effect on the prevalence of PONV events were evaluated. RESULTS: A total of 514 patients met the inclusion criteria. Among these patients, 40.08% experienced PONV during the first 24 hours after surgery. The most important predictive factors associated with an increased risk of PONV were female gender, young patients (15 to 25 years old), nonsmoking status, presence of predisposing factors (ie, prior history of motion sickness and/or PONV, vertigo or migraine headaches), use of volatile general anesthetics, maxillary surgery, postoperative pain level (PACU) and the use of postoperative analgesic opioid drugs. We found a directly proportional relationship between the number of risk factors and the prevalence of PONV. CONCLUSION: We found PONV had a high prevalence among patients undergoing orthognathic surgery. Further studies are needed to develop effective protocols for preventing this common and unpleasant problem.     

The incidence of postoperative wound healing problems following sagittal ramus osteotomies stabilized with miniplates and monocortical screws.

PURPOSE: Titanium plates and monocortical screws are commonly used to stabilize the mandible following sagittal split ramus osteotomies. Despite widespread use of this type of fixation, there is a paucity of large studies evaluating the infection rate and need for hardware removal. MATERIALS AND METHODS: This study is a retrospective cohort evaluation of 1,066 consecutive mandibular sagittal ramus osteotomies in 533 patients, performed between January 2002 and December 2003. All osteotomies were stabilized with 4-hole miniplates and 2.0 mm x 5.0 mm monocortical screws. Study variables included disturbances of wound healing, age, gender, plate and screw position, direction of mandibular movement, adjunctive procedures performed, and the patient's medical history. Data were collected by chart and radiographic review. The above variables were analyzed using Fisher's exact test, Chi-square, Cochran-Armitage Trend Test, and multiple logistic regression. RESULTS: Of 533 patients 26% (138) demonstrated wound healing problems. This occurred in 15% of all 1,066 osteotomy sites. 6.5% of plates required removal in 10% of patients. In no case did disturbance of wound healing or plate removal result in non-union or relapse of the osteotomy. Wound healing problems were fewer when mandibular osteotomies were done in conjunction with maxillary surgery (18.9% versus 29.1%). Disturbances of wound healing were not related to the direction of movement of the mandible and were lower when hardware was placed closer to the inferior border. CONCLUSION: An overall low incidence (6.5%) of hardware infection requiring plate removal was found in this study. Screw proximity to the osteotomy site did not correlate with higher rates of healing problems, but there was a statistically significant trend of fewer disturbances of healing when the hardware was placed closer to the inferior border of the mandible.