Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.

The global prevalence rate for congenital hydrocephalus (CH) is approximately one out of every five hundred births with multifaceted predisposing factors at play. Genetic influences stand as a major contributor to CH pathogenesis, and epidemiological evidence suggests their involvement in up to 40% of all cases observed globally. Knowledge about an individual's genetic susceptibility can significantly improve prognostic precision while aiding clinical decision-making processes.

EPAS1 prevents telomeric damage-induced senescence by enhancing transcription of , , and .

Telomeres are nucleoprotein structures located at the end of each chromosome, which function in terminal protection and genomic stability. Telomeric damage is closely related to replicative senescence and physical aging . As relatively long-lived mammals based on body size, bats display unique telomeric patterns, including the up-regulation of genes involved in alternative lengthening of telomeres (ALT), DNA repair, and DNA replication.

Transcutaneous Electrical Acupoints Stimulation Improves Spontaneous Voiding Recovery After Laparoscopic Cholecystectomy: A Randomized Clinical Trial.

Background: Facilitating the recurrence of spontaneous voiding is considered to be a way to prevent urinary retention after surgery, which is of great importance in cholecystectomy. This study aimed to assess the effect of transcutaneous electrical acupoint stimulation (TEAS) on spontaneous voiding recovery after laparoscopic cholecystectom.

Methods: Participants who underwent elective laparoscopic cholecystectomy were randomly assigned to either the TEAS group or the sham group.

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Systematic Review of Case Reports.

To summarize and analyze the manifestations of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI). A systematic literature review was performed including cases from January 1, 2014, to February 1, 2020, using PubMed, OVID, CNKI, and WanFang. This included all the literature containing comparatively complete clinical data.

Acute retinal necrosis following dexamethasone intravitreal implant (Ozurdex®) administration in an immunocompetent adult with a history of HSV encephalitis: a case report.

Background: Dexamethasone intravitreal implants (0.7 mg) (Ozurdex®, Allergan Inc., Madison, NJ) are FDA approved for managing macular oedema (ME) of retinal vein occlusion (RVO).

The epidemiology of paediatric Mycoplasma pneumoniae pneumonia in North China: 2006 to 2016.

Paediatric Mycoplasma pneumoniae pneumonia (MPP) is a major cause of community-acquired pneumonia in China. Data on epidemiology of paediatric MPP from China are little known. This study retrospectively collected data from June 2006 to June 2016 in Beijing Children's Hospital, Capital Medical University of North China and aims to explore the epidemiological features of paediatric MPP and severe MPP (SMPP) in North China during the past 10 years.

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Background: Chronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.

Methods: Pediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016.

Clinicopathological parameters predicting recurrence of pT1N0 esophageal squamous cell carcinoma.

Aim: To identify the clinicopathological characteristics of pT1N0 esophageal squamous cell carcinoma (ESCC) that are associated with tumor recurrence.

Methods: We reviewed 216 pT1N0 thoracic ESCC cases who underwent esophagectomy and thoracoabdominal two-field lymphadenectomy without preoperative chemoradiotherapy. After excluding those cases with clinical follow-up recorded fewer than 3 mo and those who died within 3 mo of surgery, we included 199 cases in the current analysis.

Lepidic and micropapillary growth pattern and expression of Napsin A can stratify patients of stage I lung adenocarcinoma into different prognostic subgroup.

Histologic categories and related growth pattern proposed by IASLC/ATS/ERS classification has been reported to be prognostically important in lung adenocarcinoma. Thyroid transcription factor-1 (TTF1) and Napsin A have been investigated as potential prognostic parameters with conflicting results. A total of 211 cases with stage I lung adenocarcinoma were analyzed according to the IASLC/ATS/ERS classification with slight modifications.

[Analysis of clinicopathological features of intestinal neuroendocrine neoplasms].

Objective: To analyze the clinicopathological features of intestinal neuroendocrine neoplasms.

Methods: The clinicopathological features of 114 patients with intestinal neuroendocrine neoplasms treated in our hospital from April 1999 to March 2011 were retrospectively reviewed, including tumor location, histological classification, muscle invasion, metastasis and clinical data. Immunohistochemical SP staining was applied to examine the expression of 15 markers in the tumor specimens.

[Analysis of HER2 status in breast carcinoma using fully automated HER2 staining and fluorescence in-situ hybridization technology].

Objective: To determine human epidermal growth factor receptor 2 (HER2) status in breast carcinoma by the techniques of a fully automated immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), to compare the concordance of protein expression with gene amplification and to explore the optimization in process quality control.

Methods: A prospective study of invasive breast cancer specimens excised between May 2009 and April 2011 at the Cancer Hospital, Chinese Academy of Medical Sciences was conducted by automated IHC staining with the new 4B5 rabbit monoclonal antibody and FISH. An evaluation was performed according to the ASCO/CAP guidelines (2007) and Chinese guidelines (2009).

Clinicopathological analysis of 156 patients with angiomyolipoma originating from different organs.

Angiomyolipoma (AML) is a benign mesenchymal tumor composed of variable proportions of adipose tissue, spindle and epithelioid smooth muscle cells and abnormal thick-walled blood vessels. Approximately one-third of epithelioid AML (EAML) cases have been reported to have metastasis. Thus, it would be of interest to identify the adverse pathological parameters correlated with outcome.

[Primary superficial small cell neuroendocrine carcinoma of esophagus: clinicopathologic and immunohistochemical analysis of 15 cases].

Objective: To study the clinicopathologic and immunohistochemical features of primary superficial esophageal small cell neuroendocrine carcinoma (ESCNC).

Methods: The clinical, pathologic and immunohistochemical features were retrospectively analyzed in 15 cases of superficial ESCNC. An immunohistochemical study for chromogranin A, neuron-specific enolase, synaptophysin, CD56, TTF-1, 34βE12, AE1/AE3, and CK10/13 was performed.

[Comparison of histopathologic changes and expression of biomarkers in breast carcinoma before and after neoadjuvant chemotherapy].

Objective: To investigate the relationship between the pathologic responses and histologic type, grade, the expression of ER, PR and HER2 and their changes in breast carcinoma before and after neoadjuvant chemotherapy (NAC).

Methods: Two-hundred and nine cases of breast cancer with NAC were analyzed and clinical, pathologic data were evaluated based on the Miller and Payne ( MP) grading system. The expression of ER, PR and HER2 in the cancers before and after NAC were detected by immunohistochemistry (MaxVision method).

[Clinical features of 3 cases with acute interstitial pneumonia in children].

Objective: Acute interstitial pneumonia (AIP) is a rare lung interstitial disease in children. This study was conducted to understand the clinical features of the AIP in children.

Method: The data of the three cases with AIP admitted to our hospital from March 2008 to November 2009 were reviewed.

[Expression of fascin and CK14 in different histological types of cancer and its differential diagnostic significance].

Objective: To investigate and analyze the expression of fascin and CK14 in multiple histological types of cancer and to explore the potential value of the two proteins as markers in diagnosis and differential diagnosis of various cancer types.

Methods: Tissue microarray containing esophageal squamous cell carcinoma (SCC), lung SCC, larynx SCC, uterine cervical SCC, SCC of external genital organs, lung adenocarcinoma, gastric adenocarcinoma, colorectal adenocarcinoma, heptocellular carcinoma, pancreatic ductal adenocarcinoma, breast infiltrating ductal carcinoma, thyroid papillary carcinoma, uterine endometrioid adenocarcinoma, ovarian serous adenocarcinoma and renal clear cell carcinoma, 30 cases each, as well as corresponding normal controls was constructed. The expression of fascin and CK14 among different types of carcinoma and corresponding normal controls was detected by immunohistochemistry.

Expressions of the γ2 chain of laminin-5 and secreted protein acidic and rich in cysteine in esophageal squamous cell carcinoma and their relation to prognosis.

Previous studies have shown that the expressions of the γ2 chain of laminin-5 and secreted protein acidic and rich in cysteine (SPARC) play important roles in oncogenesis and the development of carcinoma. To assess the expressions of laminin-5 γ2 chain and SPARC in esophageal squamous cell carcinoma (SCC), and to clarify the prognostic significance of the expressions of laminin-5 γ2 chain and SPARC in esophageal SCC, we detected the expressions of laminin-5 γ2 chain and SPARC in cancer tissue and corresponding normal mucosa from 116 patients with advanced (stages II-IV) esophageal SCC using the tissue microarray-based immunohistochemistry and analyzed the correlation of the expressions with clinicopathologic characteristics and survival. We found that in normal esophageal tissues, laminin-5 γ2 chain was expressed in the basement membrane, whereas in esophageal SCC tissues, laminin-5 γ2 chain was expressed in the cytoplasm of carcinoma cells, with a positive rate of 72.