Case reports have linked adult hypophosphatasia as a possible cause of atypical femur fractures (AFF) associated with bisphosphonate use. Adult hypophosphatasia is an asymptomatic genetic condition which results in low alkaline phosphatase and elevated pyridoxal phosphate. We conducted a case–control study to assess the role of hypophosphatasia and atypical femur fracture. We recruited 13 control patients who took long term bisphosphonates without complication and 10 patients who sustained atypical femur fractures (mean bisphosphonate use, 9 years both cohorts). Patients underwent clinical exam and measurement of alkaline phosphatase and pyridoxal phosphate (PLP) levels. In addition, DNA was extracted and the ALPL gene was sequenced in both cohorts. Low alkaline phosphatase levels (<55 U/L) were seen in 5/10 AFF patients and 5/13 control patients. Two control patients demonstrated low alkaline phosphatase levels and elevated PLP. The alkaline phosphatase (ALPL) gene exons and intron splice sites were sequenced in the atypical femur fracture and control cohorts and no coding mutations were identified in any subjects. Atypical femur fracture patients demonstrated more varus hip alignment (p < 0.048) with no significant difference in mechanical axis. We found no evidence of hypophosphatasia as a risk factor for atypical femur fractures. Laboratory findings of mildly low alkaline phosphatase activity were equally common in atypical and control cohorts and may be due to long term bisphosphonate use. Clinicaltrials.gov number NCT01360099 . Prospectively registered May 20, 2011. First patient enrolled June 14, 2011.

Objective: The aim is to quantitatively assess regional ventricular systolic function by two-dimensional strain (2DS) echocardiography in gestational diabetes mellitus (GDM) fetuses with good glycemic control. Methods: We studied 60 consecutive normal fetuses and 35 fetuses of GDM mothers with good glycemic control by echocardiography. M-mode and two-dimensional echocardiography were used to measure ejection fraction and wall dimensions of left ventricle and right ventricle. Both left and right ventricle peak systolic myocardial strain values were obtained by 2DS echocardiography. Results: Compared with normal fetuses, the thickness of the interventricular septum (IVS) and the thickness of right ventricular wall were significantly increased in GDM fetuses (p < 0.05). Compared with those of normal fetuses, the peak systolic myocardial strain decreased significantly in the apical segments of the IVS and the apical segments of the left ventricular lateral wall in GDM fetuses (p < 0.05), as well as the apical and middle segments of right ventricular wall in GDM fetuses (p < 0.05). Peak negative 2DS values in 60 normal fetuses increased with the gestational age, showing a significant linear correlation(r = –0.625, p < 0.001). The average ventricular strain was not correlated to ventricular wall thickness (r = 0.127, p = 0.394). Conclusions: 2DS is a feasible approach to assess regional ventricular systolic function in the fetal hearts and it can be used to examine cardiac systolic function in GDM fetuses with good glycemic control.

To determine whether abnormal cardiac shape and ventricular global, transverse, and longitudinal contractility are present in fetuses of women with well-controlled GDM.A prospective observational s...

Duct-dependent congenital heart diseases (CHDs) are a serious form of CHD with a low detection rate, especially in underdeveloped countries and areas. Although existing studies have developed models for fetal heart structure identification, there is a lack of comprehensive evaluation of the long axis of the aorta. In this study, a total of 6698 images and 48 videos are collected to develop and test a two-stage deep transfer learning model named DDCHD-DenseNet for screening critical duct-dependent CHDs. The model achieves a sensitivity of 0.973, 0.843, 0.769, and 0.759, and a specificity of 0.985, 0.967, 0.956, and 0.759, respectively, on the four multicenter test sets. It is expected to be employed as a potential automatic screening tool for hierarchical care and computer-aided diagnosis. Our two-stage strategy effectively improves the robustness of the model and can be extended to screen for other fetal heart development defects.

Objective: To establish Z-score regression equation derived from age for testicular volume measured by ultrasonography in normal boys aged 0 to 18 years old.Method: The length (L), width (W), and height (H) of 3,328 testicles from 1,664 Chinese boys were measured by ultrasonography. Lambert's formula: L × W × H × 0.71 was used to calculate testicular volume. Z-score regression equation derived from age was established by regression analysis of predicted values of testicular volume and standard deviations.Result: There was no significant difference between left and right testicular volumes. Testicular volume was positively correlated with age, and logarithmic transformation of testicular volume can show a fine curve fit with age. To establish Z-score regression equation derived from age, the predicted values of testicular volume used cubic regression equations, and the standard deviation used square regression equations. The Z-score regression equation derived from age was calculated by the formula: z = [lg (L × W × H × 0.71) – (−0.3524-0.01759 × x+0.009417 × x2-0.0001840 × x3)]/(0.1059+0.01434 × x-0.0005324 × x2).Conclusion: The current study provided a reference value for testicular volume of boys aged 0 to 18 years old. Z-score regression equation derived from age for testicular volume can be established. Z-score will be of great value for the testicular development assessment and disease diagnosis and follow-up.

Background: Poor CD4 lymphocyte recovery on antiretroviral therapy (ART) is associated with reduced function of the thymus. Palifermin (keratinocyte growth factor), by providing support to the thymic epithelium, promotes lymphopoiesis in animal models of bone marrow transplantation and graft-versus-host disease. Methods: In AIDS Clinical Trials Group A5212, a randomized, double-blind, placebo-controlled study, 99 HIV-infected patients on ART with plasma HIV-1 RNA levels ≤200 copies per milliliter for ≥6 months and CD4 lymphocyte counts <200 cells per cubic milliliter were randomized 1:1:1:1 to receive once daily intravenous administration of placebo or 20, 40, or 60 μg/kg of palifermin on 3 consecutive days. Results: The median change in the CD4⁺ T-cell count from baseline to week 12 was not significantly different between the placebo arm [15 (−16, 23) cells/mm³] and the 20-μg/kg dose [11 (2, 32) cells/mm³], the 40-μg/kg dose [12 (−2, 25) cells/mm³], or the 60-μg/kg dose arm [8 (−13, 35) cells/mm³] of palifermin. No significant changes were observed in thymus size or in the number of naive T cells or recent thymic emigrants. Conclusions: Palifermin in the doses studied was not effective in improving thymic function and did not raise CD4 lymphocyte counts in HIV-infected patients with low CD4 cell counts despite virologically effective ART.