OBJECTIVE: To explore the clinical features and genetic basis of a male patient with Kennedy disease(KD) presenting as secondary infertility. METHODS: A male patient who had presented at Yantai Yuhuangding Hospital in August 2023 for secondary infertility for 5 years was selected as the study subject. Clinical data, laboratory findings, and auxiliary examination of the patient were collected. Peripheral blood samples were obtained from the patient and his family members. Following DNA extraction, whole-exome sequencing (WES) was carried out. Pathogenicity of candidate variant was predicted by bioinformatics analysis. Fluorescence probe PCR-capillary electrophoresis was employed to analyze the trinucleotide CAG repeat sequence variation in the AR gene to rule out dynamic mutation. This study was approved by the Ethics Committee of Yantai Yuhuangding Hospital (Ethics No.: 2024-697). RESULTS: The patient had presented with non-obstructive azoospermia and elevated androgen sensitivity index. Ultrasound scan indicated small testicular volume and seminal vesicle atrophy. WES and bioinformatics analysis revealed abnormal amplification in the patient's AR gene. Fluorescence probe PCR and capillary electrophoresis confirmed that both the proband and his nephew had harbored 52 CAG trinucleotide repeats in exon 1 of the AR gene, confirming the diagnosis of KD. The proband's mother, elder sister, and daughter were identified as carriers of the variant, while his second elder sister did not carry the mutation. CONCLUSION As a rare X-linked recessive genetic disease, KD mainly manifests with muscle weakness, myasthenia gravis and myofascial tremor, while cases with infertility and non-obstructive azoospermia as the initial symptoms are rare and can be easily missed. Diagnosis made by genetic testing needs to be taken seriously by the clinicians.
Humans ; Male ; Bulbo-Spinal Atrophy, X-Linked/diagnosis* ; Adult ; Infertility, Male/genetics* ; Receptors, Androgen/genetics* ; Exome Sequencing ; Mutation ; Pedigree ; Trinucleotide Repeats

Objective To investigate the effects of a multidisciplinary round electronic checklist in ICU. Methods From October 2016 to September 2017,a total of 1 172 patients were provided with a multidisciplinary round electronic checklist. Another 886 patients with routine rounds between October 2015 to September 2016 were retrospectively analyzed. The duration of mechanical ventilation and ICU stay,the rate of nosocomial infection, the percentages of catheter days(central line catheter days,artificial airway days and urinary catheter days) and clinical staffs' satisfaction with the multidisciplinary collaboration were compared. Results The duration of mechanical ventilation and ICU stay in the intervention group were 1.42(0.68,3.63)days and 3.19(2.48,5.40)days respectively,in the control group were 2.16(1.40, 4.77) days and 4.14(3.46, 6.92) days respectively. The differences between two groups were statistically significant(t=2.084, 2.247, P <0.05). The application of a multidisciplinary round electronic checklist shortened the duration of mechanical ventilation and ICU stay. The percentages of catheter days and the rate of catheter-associated urinary tract infection were 0(0/6 269),60.34%(6 269/10 389)respectively,in the control group were 0.93‰(6/6 485),67.02%(6 485/9 676)respectively.The differences between two groups were statistically significant(χ2=96.187,Fisher's exact test=0.031,P<0.05).Besides,the level of multidisciplinary collaboration in ICU was greatly improved in the intervention group, 3.03 ± 0.11 vs. 4.13 ± 0.39 (t=24.587, P < 0.05). Conclusions A multidisciplinary round electronic checklist in ICU can improve the care quality and multidisciplinary collaboration.

In order to study the cytocompatibility of nanophase hydroxyapatite ceramic in vitro, we prepared hydroxyapatite by use of the wet chemistry techniques. The grain size of hydroxyapatite of interest to the present study was determined by scanning electron microscopy and atomic force microscopy with image analysis software. Primary culture of osteoblast from rat calvaria was established. Protein content, synthesis of alkaline phosphatase and deposition of calcium-containing mineral by osteoblasts cultured on nanophase hydroxyapatite ceramics and on conventional hydroxyapatite ceramics for 7, 14, 21 and 28 days were examined. The results showed that the average surface grain size of the nanophase and that of the conventional HA compact formulations was 55 (nanophase) and 780 (conventional) nm, respectively. More importantly, compared to the synthesis of alkaline phosphatase and deposition of calcium-containing mineral by osteoblasts cultured on nanophase was significantly greater than that on conventional ceramics after 21 and 28 days. The cytocompatibility was significantly greater on nanophase HA than on conventional formulations of the same ceramic.
Alkaline Phosphatase ; metabolism ; Animals ; Biocompatible Materials ; chemistry ; Cell Adhesion ; Cells, Cultured ; Ceramics ; chemistry ; Durapatite ; chemistry ; Microscopy, Atomic Force ; Microscopy, Electron, Scanning ; Nanostructures ; chemistry ; Osteoblasts ; cytology ; Rats

Objective: To study the cytocompatibility of nanophase alumina ceramics with osteoblasts. Methods: Alumina ceramics were prepared via wet chemistry techniques. The grain size of alumina of interest in the present study was determined by scanning electron microscopy and atomic force microscopy with image analysis software. Primary osteoblast culture was established from rat calvaria. Protein content, synthesis of alkaline phosphatase(ALP) and deposition of calcium-containing mineral by osteoblasts cultured on nanophase alumina ceramics and conventional alumina ceramics for 7, 14, 21 and 28 d were respectively examined. Results: The average surface grain size of the nanophase and conventional alumina compact formulations was 60 nm and 1.80 ?m respectively.Synthesis of ALP and deposition of calcium-containing mineral were significantly greater by osteoblasts cultured on nanophase than those on conventional ceramics after 21- and 28- day culture. Conclusions: Nanophase alumina may stimulate ALP synthesis and calcium deposition of osteoblasts.

Sinonovacula constricta(Lamarck), a kind of mollusks, is an important species of marine aquaculture. We choose it as our experiment sample and its basic protein expression profiles of hemolymph after short-term treatment ur(?)der high temperature and low salinity were detected, seven kinds of proteins or polypeptides were identified: Cysteine-rich protein 2 CRP2, Phospholipase A2, Pepidyl-prolyl cis- trans isomerase A, epidermal secretory protein xp2 precursor, brain-derived neurotrophic factor, tumor necrosis factor receptor, highmobility groupprotein HMGI-C. They have multiple functions, such as nutrition, gene expression regulation, protein synthesis, substances transport, antitoxin and anti-interference. The results suggested that the hemolymph played a key action in defense System of Sinonovacula constricta .