Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

RATIONALE: Allan-Herndon-Dudley syndrome (AHDS) results from a pathogenic variant in the hemizygous subunit of the SLC16A2 gene, which encodes monocarboxylate transporter 8 and follows an X-linked recessive pattern. AHDS manifests as neuropsychomotor developmental delay, intellectual disability, movement disorders, and thyroid hormone abnormalities. It is frequently misdiagnosed as cerebral palsy or hypothyroidism. PATIENT CONCERNS: A 9-month-old male infant exhibited poor head control, hypodynamia, motor retardation, hypertonic limbs, and thyroid abnormalities. Despite levothyroxine supplementation and rehabilitation therapy, no improvements were observed. Whole-exome sequencing identified a novel nonsense mutation in SLC16A2 (c.124G > T, p.E42X), which unequivocally established the diagnosis. DIAGNOSES: AHDS was confirmed. INTERVENTIONS: Levothyroxine treatment commenced early in infancy, followed by 3 months of rehabilitation therapy, starting at 5 months of age. The combined administration of levothyroxine and methimazole was initiated at 1 year and 10 months of age, respectively. OUTCOMES: While improvements were noted in thyroid hormone levels, neurological developmental delays persisted. LESSONS: AHDS should be considered in patients presenting with atypical neurological features and thyroid hormone abnormalities such as elevated triiodothyronine and decreased thyroxine levels. The early utilization of exome sequencing aids in prompt diagnosis. The identified SLC16A2 nonsense mutation correlates with severe neurological phenotypes and adds to the spectrum of genetic variations associated with AHDS.

Observation of the effect of closed-loop health management based on an internet platform in patients with peritoneal dialysis: a randomized trial.

BACKGROUND: Peritoneal dialysis (PD) uses the peritoneum as the dialysis membrane. PD is a simple operation for self-treatment at home, and has become the preferred option for most patients with chronic renal failure (CRF). This study aimed to explore the effect of a closed-loop health management (CLHM) system based on an Internet platform in patients with PD. METHODS: A total of 102 patients with PD who were admitted to Xuzhou Central Hospital from May 2019 to May 2020 were selected and randomly divided into two groups (n=51). The control group received routine care, and in the observation group a CLHM based on an Internet platform was introduced. The incidence of complications and changes in disease knowledge, nutritional status, quality of life (QOL) before and after the intervention were compared between groups. RESULTS: The incidences of peritonitis, tunnel entrance infection, poor drainage, and hypokalemia in the observation group were lower than in the control group (P<0.05). The disease-related knowledge mastery scores of the observation group were higher than those in the control group after 3 months of intervention (P<0.05). Malnutrition-inflammation score (MIS) and serum creatinine (SCr) in the observation group were lower than in the control group after 3 months of intervention (P<0.05), and the body mass index (BMI), albumin (ALB), and hemoglobin (Hb) of the observation group were higher than those of the control group (P<0.05). The QOL scores of the observation group were higher than those of the control group after 3 months of intervention (P<0.05). CONCLUSIONS: The application of a CLHM system based on an Internet platform to patients with PD could effectively reduce complications, and improve patients' knowledge of disease, nutritional status and QOL. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: ChiCTR2100046122.

Lysophosphatidic acid induces the migration and invasion of SGC-7901 gastric cancer cells through the LPA2 and Notch signaling pathways.

Lysophosphatidic acid (LPA), a simple water­soluble glycerophospholipid with growth factor­like activity, regulates certain behaviors of multiple cancer types by binding to its receptor, LPA receptor 2 (LPA2). Notch1 is a key mediator in multiple human cancer cell types. The association between LPA2 and Notch1 in gastric cancer cells is not well known. The present study aimed to investigate the function of LPA2 and Notch1 in controlling the migration and invasion activities of SGC­7901 gastric cancer cells following stimulation with LPA. It was revealed that LPA may stimulate the expression of Notch1 and Hes family bHLH transcription factor 1, and the phosphorylation of protein kinase B which belongs to the Notch pathway. Furthermore, by performing transwell migration and invasion assays, immunofluorescent staining, analyzing the expression of markers for the epithelial­mesenchymal transition (EMT) and downregulating LPA2 and Notch1 expression, it was verified that LPA2 and Notch1 mediated the metastasis, invasion, EMT and rebuilding of the cytoskeleton of SGC­7901 cells upon LPA treatment. An immunoprecipitation assay revealed that LPA2 interacted with Notch1 in SGC­7901 cells. The present study may provide novel ideas and an experimental basis for identifying the factors that affect the functions of SGC­7901 cells.

Scp3 expression in relation to the ovarian differentiation in the protogynous hermaphroditic ricefield eel Monopterus albus.

Synaptonemal complex protein 3 (Scp3), which is encoded by scp3, is a meiotic marker commonly used to trace the timing of gonadal differentiation in vertebrates. In the present study, the ricefield eel scp3 cDNA was cloned, and a fragment encoding amino acids 49 to 244 was overexpressed. The recombinant Scp3 polypeptide was purified and used to generate a rabbit anti-Scp3 polyclonal antiserum. In adult ricefield eels, scp3 mRNA was predominantly detected in the gonads and faintly detected in discrete brain areas. In the gonads, Scp3 immunoreactivities were shown to be localized to the germ cells, including meiotic primary growth oocytes, spermatocytes, and pre-meiotic spermatogonia. During early ovarian differentiation, immunoreactive Scp3 was not detected in the gonads of ricefield eels at 6 days post-hatching (dph) but was found to be abundantly localized in the cytoplasm of some oogonia at 7 dph, coinciding with the appearance of the ovarian cavity and ovarian differentiation. At 14 dph, strong Scp3 immunostaining was detected on one side of the nucleus with a distinct polarity in some germ cells, presumably at the leptotene stage. Consistent with these results, the expression of scp3 mRNA was faintly detected in the gonads of ricefield eels at 6 dph, increased at 8 dph, and then remained relatively high thereafter. Taken together, these results suggest that the appearance of immunoreactive Scp3 in oogonia could be a marker for early ovarian differentiation in ricefield eels. The translocation of the Scp3 protein from the cytoplasm to the nucleus in the oogonium of ricefield eels appears to be a controlled process that warrants further study.

Expression and ontogeny of growth hormone (Gh) in the protogynous hermaphroditic ricefield eel (Monopterus albus).

Growth hormone (GH) is a single-chain polypeptide hormone mainly secreted by somatotropes of the anterior pituitary gland and is an important regulator of somatic growth in vertebrates including teleosts. In this study, a polyclonal antiserum against ricefield eel Gh was generated and the expression of Gh at the mRNA and protein levels was analyzed. Both RT-PCR and western blot analysis showed that Gh was predominantly expressed in the pituitary glands of ricefield eels. The immunoreactive Gh signals were localized to the multicellular layers of the adenohypophysis adjacent to the neurohypophysis in ricefield eels. Ontogenetic analysis showed that immunoreactive Gh signals could be detected in the pituitary glands of ricefield eel embryos as early as 3 days post-fertilization. During the sex change from female to male, the levels of the immunoreactive Gh signals in the pituitary glands of the ricefield eels peaked at the intersexual stage. These results suggest that Gh in the pituitary glands may be associated with embryonic development before hatching, as well as with the sex change in the adult ricefield eels, possibly via the classical endocrine manner.

[Analysis of the articles published in Chinese journal of ophthalmology during years 2001 to 2004].

OBJECTIVE: To study characteristics of the publication of Chinese Journal of Ophthalmology during years of 2001 to 2004. METHODS: Statistic method was used to retrieve the following parameters of Chinese Journal of Ophthalmology: numbers of articles, columns, citation frequencies, grants support, time lag from accepted to publication. RESULTS: The journal published 926 pieces of papers and 16 reports during years of 2001 to 2004. There were 24 columns; citation rates were 89.98%; papers published in the journal 19.53% got grant support. The times lag for publication was relatively longer. CONCLUSIONS: Chinese Journal of Ophthalmology is a high quality, specialized and core periodical in china.

[Citation analysis of published articles in the Chinese Journal of Internal Medicine in the period of 2000-2004].

OBJECTIVE: To identify and analyze the scientific level and quality of the articles published in Chinese Journal of Internal Medicine. METHOD: Using the database of the Chinese Medical Citation Index (CMCI), the numbers and distribution of the cited original articles in Chinese Journal of Internal Medicine from 2000 to 2004 were analyzed according to the method of citation analysis. RESULT: The percentage of cited papers in all the published articles was 47.10% during the period, the average times of citation of an original article by other researchers is 4.30 and the top cited frequency was 133. There were 250 articles being cited 5 or more (25.43% of the total papers), and the times of citation from them were 2834 (67.01% of the total). 983 cited articles were written by 845 authors from different countries. The author of the most frequently cited articles wrote 6 papers and the authors with one cited paper were 751 (88.88% of all the authors). The cited authors were from 31 municipalities and provinces as well as from other countries. Beijing, Guangdong and Shanghai were in the front of the list of places with authors being frequently cited. Beijing was the top of the rank (44.74% of total authors). There were 266 institutes cited and the most frequently cited institute was Peking Union Medical College Hospital of Peking Union Medical College and Chinese Academy of Medical Sciences. There were 685 citing journals and the self-citing rate is 3.52%. CONCLUSIONS: The Chinese Journal of Internal Medicine has published high quality articles. As a core medical journal, it is the one of the most important information resources for the medical researchers.