BACKGROUND

There is growing interest in gender differences in acute stroke worldwide. However, no known studies have been published on the differences in prognosis of hyperacute intracerebral hemorrhage between genders among Asians, particularly Filipinos.

Compare gender differences in the prognosis of hyperacute intracerebral hemorrhage in terms of baseline demographic and radiologic profile, as well as, clinical outcomes.

This is a retrospective cohort study involving a chart review of all patients diagnosed with hyperacute Intracerebral Hemorrhage admitted at a tertiary hospital from January 2021 to May 2023. Patients were grouped according to their gender and baseline demographic, radiologic and clinical outcomes were assessed and compared between two groups.

No statistical difference was found between stroke risk factors between the two groups. However, males tend to have higher percentages of intraventricular extension (29.2 %. (n=28) vs 30.6% (n=11) and increased hematoma volume compared to their female counterparts (n=39, 83% vs n=11, 68%). In addition, males had a higher number of ICU admissions (42.7% (n= 41) vs. 33.3% (n= 12) and mortality (46.9%( n=45) vs. 30.6% (n=11), though the results were not statistically significant.

In patients with hyperacute intracerebral hemorrhage, gender does not influence on its radiologic and clinical outcome.

Animals ; Callithrix ; Sex Factors ; Vocalization, Animal ; Sex Characteristics

Disorders of sex development (DSD) are characterized by atypical development of chromosomal, gonadal, or phenotypic sex. 45X,46XY mosaicism is a type of sex chromosome DSD which presents with a wide heterogeneity of manifestations. We report the case of a 13-year-old phenotypically female who presented with clitoromegaly at puberty. Testosterone level was elevated on serology. Out of the 50 cells examined, 43 cells had Monosomy X while 7 cells had a normal male karyotype. She was managed by a multidisciplinary team. Due to the presence of Y chromosome, the solid nodular structure seen on the right gonad in magnetic resonance imaging and the pain caused by the phallus, Laparoscopic bilateral gonadectomy, salpingectomy and clitoroplasty were done after a shared decision making. Histopathology revealed Gonadoblastoma and Germ cell neoplasia-in-situ of the right gonad justifying timely removal. She was then maintained on estrogen for induction of secondary sexual characteristics.

Introduction: The purpose of this study was to determine the possible differences in genetic polymorphisms and serum levels of chromogranin A (CgA), according to age and sex, in subjects with and without metabolic syndrome (MetS). Methodology: The genotyping and serum level of CgA and biochemical parameters were measured by the T-ARMS-PCR and PCR-RFLP and ELISA and spectrophotometer methods, respectively. Results: A comparison of males with and without MetS showed significantly lower high-density lipoprotein-cholesterol (HDL-C) levels than those of females. At ages 30-70 years, both sexes showed significant differences in triglycerides (TG), fasting blood sugar (FBS), CgA levels and waist circumference (WC) when compared to the two groups. Both sexes with MetS indicated significant differences in systolic blood pressure (SBP) at ages 40-70 years, while at ages 40-59 years, there was a significant difference in HDL-C level in males. There was a significant correlation between serum levels of FBS, TG, SBP and WC (in both sexes), and CgA in subjects with MetS. Significant correlation was found between HDL-C level and diastolic blood pressure (DBP), and CgA level in males and females, respectively. CgA genotype frequency (T-415C and C+87T polymorphisms) showed no significant differences between males and females with and without MetS, while there was only a significant difference in frequency of the genotypes T-415C when compared to males with and without MetS. Conclusion The CgA appears to be strongly associated with MetS components in both sexes. Variation in CgA gene expression may affect the T–415C polymorphism in males. This may mean that the structure of CgA genetics differs in different ethnic groups. Differences in the serum level and expression of CgA gene may show valuable study results that it may be expected a relationship between these variables and the MetS.
Sex ; Chromogranin A ; Genotype ; Metabolic Syndrome

INTRODUCTION COVID-19 (coronavirus disease 2019), which is caused by the human severe acute respiratory syndrome coronavirus 2 (SARS-COV-2), has reached a pandemic level. As a novel disease, local epidemiologic data are important to determine high-risk age groups, as well as risk factors that contribute to mortality. This study is a retrospective cohort study of 182 COVID-19–positive patients confirmed by real-time polymerase chain reaction. Baseline demographics and data on the preexisting cardiovascular comorbidities of 182 COVID-19 patients were collected by chart review and underwent statistical analysis using STATA 14 software (StataCorp, College Station, Texas). In the study, the majority of COVID-19 patients were 61 years or older (44.5%), with a higher prevalence of individuals 61 years or older among those who died (68.4%) compared with survivors (38.2%) (P = 0.005). In terms of gender, half of the patients were male (57.7%). In terms of cardiovascular disease, the most prevalent was hypertension (48.3%), followed by diabetes (28.0%). The prevalence of coronary artery disease (CAD) was significantly higher among patients who died (15.8%) compared with survivors (2.8%) (P = 0.022). In the univariate logistic regression analysis, older age was significantly associated with increased odds for mortality (odds ratio, 1.06; 95% confidence interval, 1.03–1.09). In terms of comorbidities, having CAD was significantly associated with increased odds for mortality (odds ratio, 6.6; 95% confidence interval, 1.7–24.6). Other variables were not significantly associated with mortality. In our study, advanced age and the presence of underlying CAD have been associated with an increased risk of in-hospital mortality among COVID-19 patients.
Cardiovascular Diseases ; COVID-19 ; mortality ; Sex

Body dysmorphia is a debilitating disorder that centralizes on a preoccupation with one’s physical appearance. Often, these individuals seek surgical correction in an effort to subdue this preoccupation. A majority of complications from feminizing gender reassignment surgery, consists of urethral stricture or stenosis, leading to voiding dysfunction. The patient is 39-year old male who underwent bilateral nipple removal, bilateral orchiectomy, scrotectomy and total penectomy with perineal urethrostomy, one year prior to consult. The patient eventually presented with acute urinary retention secondary to perineal urethrostomy stenosis. Urethroplasty with revision of perineal urethrostomy site using a buccal graft was done; and on follow up, he was noted to have good urine flow on uroflowmetry with mild lower urinary tract symptoms. Complex urethral strictures may be noted in patients with prior reconstructive history and lengthy areas of fibrosis. Although perineal urethrostomy is a valid surgical course of treatment for patients with complex strictures, improper technique, suboptimal patient factors, and, poor healing may lead to stenosis. The study aims to describe the use of a buccal graft as a viable alternative and easily reproducible technique to augment a revision perineal urethrostomy and lessen the recurrence of stenosis.

Objective: To analyze the incidence trend and epidemiological characteristics of typhoid fever and paratyphoid fever in China from 2004 to 2020, understand the high-incidence population and hotspot areas, and provide evidences to develop more targeted prevention and control measures. Methods: The descriptive epidemiological method and spatial analysis method were applied to analyze the epidemiological characteristics of typhoid fever and paratyphoid fever in China during this period by using the surveillance data collected from the National Notifiable Infectious Disease Reporting System of Chinese Center for Disease Control and Prevention. Results: A total of 202 991 cases of typhoid fever were reported in China from 2004 to 2020. More cases occurred in men than in women (sex ratio: 1.18∶1). Most cases were reported in adults aged 20-59 years (53.60%). The incidence rate of typhoid fever decreased from 2.54/100 000 in 2004 to 0.38/100 000 in 2020. The highest incidence rate was reported in young children aged <3 years after 2011, ranging from 1.13/100 000 to 2.78/100 000, and during this period the proportion of cases in this age group increased from 3.48% to 15.59%. The proportion of the cases in the elderly aged ≥60 years increased from 6.46% in 2004 to 19.34% in 2020. The hotspot areas existed in Yunnan, Guizhou, Guangxi and Sichuan Provinces and expanded to Guangdong, Hunan, Jiangxi, and Fujian Provinces. A total of 86 226 paratyphoid fever cases were reported from 2004 to 2020, the male to female ratio of the cases was 1.21∶1. Most cases were reported in adults aged 20-59 years (59.80%). The incidence rate of paratyphoid fever decreased from 1.26/100 000 in 2004 to 0.12/100 000 in 2020. The highest incidence rate of paratyphoid fever was in young children aged <3 years after 2007, ranging from 0.57/100 000 to 1.19/100 000, and during this period the proportion of the cases in this age group increased from 1.48% to 30.92%. The proportion of the cases in the elderly aged ≥60 years increased from 4.52% in 2004 to 22.28% in 2020. The hotspot areas expanded to the east, including Guangdong, Hunan and Jiangxi Provinces, from Yunnan, Guizhou, Sichuan, and Guangxi Provinces. Conclusions: The results showed a low level of incidence of typhoid fever and paratyphoid fever in China with a trend of decreasing per year. The hotspots were mainly in the of Yunnan, Guizhou, Guangxi and Sichuan Provinces, with an expanding trend to eastern China. It is necessary to strengthen the typhoid fever and paratyphoid fever prevention and control in southwestern China, among young children aged <3 years and the elderly aged ≥60 years.
Adult ; Aged ; Child, Preschool ; Female ; Humans ; Male ; China/epidemiology* ; Paratyphoid Fever/epidemiology* ; Sex Ratio ; Typhoid Fever/epidemiology* ; Young Adult ; Middle Aged

OBJECTIVE: To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms. METHODS: A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared. RESULTS: The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05). CONCLUSION No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
Humans ; Mosaicism ; In Situ Hybridization, Fluorescence/methods* ; Retrospective Studies ; Karyotyping ; Chromosome Aberrations ; Sex Chromosome Aberrations ; Karyotype ; Chromosome Banding ; Sex Chromosomes

OBJECTIVE: To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies. METHODS: 10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13. RESULTS: The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly. CONCLUSION The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.
Pregnancy ; Female ; Humans ; Trisomy/genetics* ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Down Syndrome/genetics* ; Aneuploidy ; Chromosome Aberrations ; Trisomy 18 Syndrome/genetics* ; Sex Chromosome Aberrations ; Fetus

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). METHODS: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out. RESULTS: Child 1 and 2 had a social gender of female, whilst their karyotypes were both 46,XY. No pathogenic variant was identified by WES. The results of CNV-seq were 46,XY,+Y (1.4) and 46,XY,-Y (0.75), respectively. The remaining three children have all carried an abnormal chromosome Y. Based on the results of CNV-seq, their karyotypes were respectively verified as 45,X[60]/46,X,del(Y)(q11.221)[40], 45,X,16qh+[76]/46,X,del(Y)(q11.222),16qh+[24], and 45,X[75]/46,XY[25]. CONCLUSION CNV-seq may be used to verify the CNVs on the Y chromosome among children with DSD and identify the abnormal chromosome in those with 45,X/46,XY. Above results have provided a basis for the clinical diagnosis and treatment of such children.
Humans ; Child ; Female ; DNA Copy Number Variations ; Chromosome Aberrations ; Karyotyping ; Exome Sequencing ; Disorders of Sex Development/genetics*