Results 51 to 60 of about 59,375 (298)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Age and Prevalence of Cervical Carcinoma in Subsequent Hysterectomy Following a Conization Procedure

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To determine the prevalence and age of patients with cervical carcinoma missed by a loop electrosurgical excision procedure. Materials and Methods: A total of 253 women with cervical dysplasia who underwent conization and 248 women who later ...
Ting-Hung Wun   +8 more
doaj   +1 more source

Pain relief for women with cervical intraepithelial neoplasia undergoing colposcopy treatment [PDF]

open access: yes, 2012
Treatment for CIN is usually undertaken in an outpatient colposcopy clinic to remove the pre-cancerous cells from the cervix. It commonly involves lifting the cells off the cervix with electrically heated wire (diathermy) or laser, or destroying the ...
AI-Kurdi   +31 more
core   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis [PDF]

open access: yes, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al.
Fukao, Toshiyuki   +4 more
core   +1 more source

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

open access: yes, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut   +30 more
core   +2 more sources

Public Perceptions of Marital Rape: Does Level of Force Used Have an Impact?

open access: yesBehavioral Sciences &the Law, EarlyView.
ABSTRACT Research indicates that marital rape is viewed by the public as less harmful to a victim than stranger/acquaintance rape. The aim of the study is to extend the research conducted by Robinson in 2017, investigating how levels of force influence perceptions of marital rape.
Leanne Hanney, Amy Shelford, Andy Guppy
wiley   +1 more source

Cost of Preventing, Managing, and Treating Human Papillomavirus (HPV)-Related Diseases in Sweden before the Introduction of Quadrivalent HPV Vaccination. [PDF]

open access: yesPLoS ONE, 2015
Costs associated with HPV-related diseases such as cervical dysplasia, cervical cancer, and genital warts have not been evaluated in Sweden. These costs must be estimated in order to determine the potential savings if these diseases were eradicated and ...
Ellinor Östensson   +6 more
doaj   +1 more source

2022-RA-889-ESGO The vaginal microbiota composition is associated with severity of cervical dysplasia [PDF]

open access: bronze, 2022
Johanna Norenhag   +9 more
openalex   +1 more source

Biopsy for Suspicious Oral Lesions: A Review From the American Head and Neck Society‐Cancer Prevention Service

open access: yesHead &Neck, EarlyView.
ABSTRACT Background Oral cancer is often preceded by a precursor lesion. This presents an opportunity for early diagnosis and intervention. Method of biopsy and interpretation are not well standardized and novel methods of analysis are now being investigated.
James Christopher Gates   +12 more
wiley   +1 more source

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