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Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting as various degrees of anterior pituitary hormone deficiency. Scattered familial cases have been found, revealing some genetic variants. However, most of the previous research studies involved an affected sibling, and the gene spectra of the patients’ entire family have rarely been reported. We conducted a study of a family consisting of a PSIS patient with his unaffected sibling and healthy parents of Han Chinese background using whole-genome sequencing. Bioinformatic analysis was carried out, and mutations related to PSIS, single-nucleotide variants (SNVs), insertion-deletion (InDELs), and structural variations (SVs) in all the four samples were filtered. After Sanger sequencing, we confirmed the variants obtained and selected three candidate genes for functional verification. The gene variations in this boy with PSIS and his lineal relatives are reported herein; de novo sequencing revealed that the NBPF9 gene may be involved in the pathogenesis of PSIS.

Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from -1.99±1.91 (−6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to -1.47±1.64 (−7.82~1.05) at BA of 16.6 (8.0~18.0) years (P=0.016). And GH treated patients had more height gain than the untreated patients (P

Conventionally, the Al-PTFE is thought to be inert under quasi-static or static loads. However, here we reported an initiation phenomenon of Al-PTFE under quasi-static compression. Quasi-static tests suggest that reacted Al-PTFE samples had much higher toughness than unreacted samples. Dynamic test showed that the energy level needed to initiate the material was similar for quasi-static compression (88–100 J) and dynamic impact (77–91 J). The difference in density indicates that unreacted Al-PTFE has a higher crystallinity, which leads to the lower toughness. SEM images show numerous PTFE fibrils in unreacted composites which made the sample harder to crack and initiate.

Aim. To investigate incidental adrenal enlargement clinical characteristics and functional status and analyze functional lesion risk factors. Materials and Methods. This retrospective study included 578 patients with adrenal imaging features showing enlargement. Incidental adrenal enlargement cases (78) were considered eligible. Demographics, functional diagnosis, adrenal imaging features, and concomitant diseases were analyzed. Results. The number of adrenal enlargements and proportion of incidental adrenal enlargement increased each year. Mean patient age was 50.32 years. Thirty-nine cases had unilateral enlargement on the left side and 3 on the right side; 36 had bilateral enlargement. Routine medical checkup was found to have the greatest chance (43.59%) of revealing clinical onsets leading to discovery. Biochemical and functional evaluation revealed 54 (69.23%) cases of nonfunctional lesions, 12 (15.38%) of subclinical Cushing syndrome, 6 (7.69%) of primary hyperaldosteronism, 1 (1.28%) of metastasis, and 5 (6.41%) of unknown functional status. Nodular adrenal enlargement (OR, 7.306; 95% CI, 1.727–28.667; P = 0.006) was a risk factor for functional lesions. Age and lesion location were not significant factors. Conclusion. Incidental adrenal enlargement is a frequent radiographic finding and is accompanied by diverse clinical factors that require proper evaluation and management. Nodular adrenal enlargement was a risk factor.