scholarly journals Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Ta-Ching Chen ◽  
Ding-Siang Huang ◽  
Chao-Wen Lin ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
...  
Keyword(s):  
Demographic Data ◽  
Genomic Medicine ◽  
Research Database ◽  
Genetic Characteristics ◽  
Common Cause ◽  
Gene Therapies ◽  
Retinal Degenerations ◽  
Near Future ◽  
Inherited Retinal Degeneration ◽  
Bietti's Crystalline Dystrophy

AbstractInherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.

scholarly journals Genetic Basis of Male Infertility

2013 ◽  
Vol 4 (1) ◽  
pp. 37-39 ◽  
Author(s):  
Mosammat Rashida Begum ◽  
Mariya Ehsan
Keyword(s):  
Genetic Testing ◽  
Male Infertility ◽  
Medical Treatment ◽  
Intracytoplasmic Sperm Injection ◽  
Chromosomal Abnormality ◽  
Genetic Disease ◽  
Genetic Basis ◽  
Common Cause ◽  
Near Future ◽  
Spermatogenic Failure

Infertility is a couple's problem. Almost 50% case males are responsible for infertility. Most common cause is oligospermia and azoospermia and approximately 5% to 15% of men with azoospermia and severe oligospermia may have a chromosomal abnormality. Men with significant spermatogenic compromise are the candidates of intracytoplasmic sperm injection (ICSI). Raised FSH level above 9 is an indication of spermatogenic compromise. So, medical treatment for these patients is waste of time and money. Early attempt of assisted reproduction is ideal to avoid the crisis of total spermatogenic failure in near future. But before going for ICSI genetic testing if possible and proper counseling about possibilities of transmission of genetic disease to offspring is necessary. DOI: http://dx.doi.org/10.3329/akmmcj.v4i1.13683 AKMMC J 2013: 4(1): 37-39  

scholarly journals Outcome of intussusception among children in Kano

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Lawal B. Abdullahi ◽  
Mohammad A. Mohammad ◽  
Lofty-John C. Anyanwu ◽  
Mohammad S. Aliyu ◽  
Bilya I. Liman
Keyword(s):  
Intestinal Obstruction ◽  
Demographic Data ◽  
Length Of Hospital Stay ◽  
Wound Dehiscence ◽  
Exploratory Laparotomy ◽  
Late Presentation ◽  
Adjacent Segment ◽  
Common Cause ◽  
A Prospective Study ◽  
Resection And Anastomosis

Intussusception is defined as the telescoping of a segment of the gastrointestinal tract within the lumen of the adjacent segment usually proximal to distal. It is a common cause of intestinal obstruction in children, rarely it can occur in adult. This condition is reported in both developed and developing countries, however there are few publications in Nigeria about the incidence, presentation and outcome of its management, most especially in children. This is a prospective study of pediatric patients managed in single center Kano over a period of 18months. The demographic data, clinical features, treatment and outcome of the management were evaluated and analyzed using SPSS version 23. Between June 2018 to December 2019, twenty-five children were managed with intussuception at Aminu Kano Teaching Hospital, there were 16 males and 9 females. The age of the patients ranges between 5 months to 6 years with most of patients in the ager range between 6 and 12 months. All of the 25 patients had exploratory laparotomy with manual reduction in 12 patients, while 13 patients had resection and anastomosis. Non-operative reduction using normal saline under ultrasound guidance was attempted for 2 patients, which was not successful. The length of hospital stay ranged between 4 days and 22 days. Few complications were observed which includes surgical site infection, wound dehiscence, postoperative ileus. One patient was re-operated for recurrent intussuception. Two patients died post operatively, while 23 patients were discharged home alive. Intussuception is still a common cause of intestinal obstruction in children in Kano. Late presentation was found to be associated with higher morbidity (complications).

scholarly journals The Surge of Young Americans from Minority-White Mixed Families & Its Significance for the Future

Daedalus ◽  
2021 ◽  
Vol 150 (2) ◽  
pp. 199-214
Author(s):  
Richard Alba
Keyword(s):  
Demographic Data ◽  
Data System ◽  
First Century ◽  
The Other ◽  
Social Characteristics ◽  
White Americans ◽  
Early Twenty ◽  
American Society ◽  
Near Future ◽  
Demographic Evolution

Abstract The number of youth from mixed majority-minority families, in which one parent is White and the other minority, is surging in the early twenty-first century. This development is challenging both our statistical schemes for measuring ethnicity and race as well as our thinking about their demographic evolution in the near future. This essay summarizes briefly what we know about mixed minority-White Americans and includes data about their growing numbers as well as key social characteristics of children and adults from mixed backgrounds. The essay concludes that this phenomenon highlights weaknesses in our demographic data system as well as in the majority-minority narrative about how American society is changing.

scholarly journals Incidence of gastric cancer, its subtypes, and correlation with Helicobacter Pylori

2013 ◽  
Vol 3 (5) ◽  
pp. 403-407
Author(s):  
Shiva Raj KC ◽  
GL Amatya ◽  
A Lakhey ◽  
S Basnet ◽  
G Aryal
Keyword(s):  
Gastric Cancer ◽  
Helicobacter Pylori ◽  
Demographic Data ◽  
College Teaching ◽  
Study Data ◽  
Upper Gastrointestinal Endoscopy ◽  
Tubular Adenocarcinoma ◽  
Common Cause ◽  
Medical College ◽  
H Pylori

Background: Gastric cancer is the fourth most commonly diagnosed cancer and the second most common cause of cancer related death worldwide. It is the common cause of cancer related death in Nepal. Helicobacter Pylori has been classified as a definite carcinogen along with other factors. The aim of this study was to fi nd the incidence of gastric cancer among the patients undergoing upper gastroscopy, its various subtypes and association with Helicobacter Pylori. Materials and Methods: This is a retrospective and prospective study carried out at GRP Polyclinic and Kist Medical College Teaching Hospital. All the patients undergoing upper gastrointestinal endoscopy were included in this study. Data of all the gastric endoscopic biopsies done from June 2011 to January 2013 were collected and analyzed. All the biopsy specimens were processed routinely in histopathology laboratory. Specimens showing carcinoma were enrolled in this study and all the relevant demographic data were collected. Results: Out of 3395 biopsy cases; 49 cases (1.44%) were diagnosed as adenocarcinoma stomach. The overall mean age for carcinoma was 47.6 years with a mild male preponderance. Thirty cases (61.2%) were of intestinal type, (n=11; 22.4%) were of diffuse type and (n=8; 16.3%) were mixed type of adenocarcinoma. According to WHO classifi cation the most common subtype was tubular adenocarcinoma (n=35; 71.5%) followed by signet ring type (11 cases; 22.4%). Out of 49 cases of adenocarcinoma stomach 39 cases (79.5%) were Helicobacter Pylori positive. Conclusion: This study shows that gastric carcinoma is a male predominant neoplasm usually of old age but can occur at younger ages. It predominantly occurs in Helicobacter Pylori infected patients and H. Pylori eradication will help to decrease the incidence rate and mortality of stomach cancer. Journal of Pathology of Nepal (2013) Vol. 3, No.1, Issue 5, 403-407 DOI: http://dx.doi.org/10.3126/jpn.v3i5.7869

EXTENSIVE EPIDEMIOLOGICAL STUDY OF TRAUMATIC PNEUMOTHORAX IN SAUDI ARABIA’S POPULATION

2021 ◽  
pp. 32-34
Author(s):  
NASSER ALRASHIDI
Keyword(s):  
Trauma Center ◽  
Injury Severity ◽  
Motor Vehicle ◽  
Demographic Data ◽  
Demographic Characteristics ◽  
Local Health ◽  
Common Cause ◽  
Traumatic Pneumothorax ◽  
Level 1 ◽  
Level 1 Trauma Center

Objectives: Traumatic pneumothorax is one of the causes of trauma mortality and morbidity. It is a problem for developing countries as many accidents can be avoided and there are few epidemiological data to support programs injury prevention. The main objective of the current study was to determine demographic characteristics, patterns, and severity of the injury, thoracic, and extra-thoracic related injuries in a Level 1 trauma center, Riyadh, Saudi Arabia (SA). Methods: This retrospective observational study used the King Abdulaziz Medical City Trauma Center’s trauma registry to review the data of traumatic pneumothorax patients admitted to the hospital from January 2001 to December 2018. Demographic characteristics, admission date and time, type and mechanism of injury, involved body area, and severity rates were analyzed. Results: A total of 708 patients of whom 92.3% were males. Blunt trauma (75.8%) is the most common cause of injury. Motor Vehicle Accidents (MVA) were the most common cause (57%) of traumatic pneumothorax. Rib fractures (36.5%), lung contusions (31.5%), and hemothorax (23.5%) were the most common clinical forms of chest injury associated with traumatic pneumothorax. On the other hand, the head injury (34.8%) was the most common extra thoracic part associated. The mean Injury Severity Score in the current study was found to be 20.1. Conclusion: This study showed the trends of traumatic pneumothorax injuries in a Level 1 trauma center, Riyadh, SA, showing MVA are the leading cause of traumatic pneumothorax in our region. These demographic data will be crucial for local health-care systems to be optimally resourced.

scholarly journals A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics

Eye ◽  
2019 ◽  
Vol 34 (4) ◽  
pp. 690-694
Author(s):  
Kirk A. J. Stephenson ◽  
Adrian Dockery ◽  
Michael O’Keefe ◽  
Andrew Green ◽  
G. Jane Farrar ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Institutional Review Board ◽  
Mater Hospital ◽  
Genetic Characteristics ◽  
Ectopia Lentis ◽  
Institutional Review ◽  
Increased Risk ◽  
Fibrillin 1 ◽  
Degeneration Study ◽  
Inherited Retinal Degeneration

Abstract Background/objectives Fibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. We describe a pedigree with a FBN1 mutation causing non-syndromic EL with retinal detachment (RRD) and their management. Subjects/methods Patients with familial EL with RRD were invited to participate (vitreoretinopathy branch of Target 5000, the Irish inherited retinal degeneration study). All patients signed full informed consent. The study was approved by the Institutional Review Board of the Mater Hospital, Dublin and abided by the Declaration of Helsinki. Results Seven adults were affected with bilateral EL. All subjects had RRD with bilateral non-synchronous RRD in 57%. Conclusions The FBN1 variant described herein confers an increased risk of both EL and RRD and can now be upgraded to ‘pathogenic’ ACMG status.

Gene therapy comes of age

Science ◽  
2018 ◽  
Vol 359 (6372) ◽  
pp. eaan4672 ◽  
Author(s):  
Cynthia E. Dunbar ◽  
Katherine A. High ◽  
J. Keith Joung ◽  
Donald B. Kohn ◽  
Keiya Ozawa ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Viral Vectors ◽  
The United States ◽  
Genetically Engineered ◽  
Drug Status ◽  
Hematopoietic Stem ◽  
Gene Therapies ◽  
Engineered T Cells ◽  
Near Future

After almost 30 years of promise tempered by setbacks, gene therapies are rapidly becoming a critical component of the therapeutic armamentarium for a variety of inherited and acquired human diseases. Gene therapies for inherited immune disorders, hemophilia, eye and neurodegenerative disorders, and lymphoid cancers recently progressed to approved drug status in the United States and Europe, or are anticipated to receive approval in the near future. In this Review, we discuss milestones in the development of gene therapies, focusing on direct in vivo administration of viral vectors and adoptive transfer of genetically engineered T cells or hematopoietic stem cells. We also discuss emerging genome editing technologies that should further advance the scope and efficacy of gene therapy approaches.

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