Results 61 to 70 of about 233,196 (250)

Obesity-related pubis lymphedema enclosing genitalia: An atypical case of genital reconstruction

open access: yesUrology Case Reports
Massive localized lymphoedema (MLL) is a rare complication of morbid obesity and has been scarcely reported in the literature, especially in the pubic area and genitalia. It is associated to BMI more than 40 kg/m2.
Daniel-Adrien Wurlod   +4 more
doaj   +1 more source

Trade Union Strategies towards Atypical Workers [PDF]

open access: yes, 2000
Over the last three decades the European countries have undergone important changes in their labour markets and forms of production. This has fuelled an interest in analysing the effects of these changes on trade union organisations.
Cervino, Emma
core  

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha   +11 more
wiley   +1 more source

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization

open access: yesCase Reports in Perinatal Medicine
Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the CYP19A1 encoding aromatase enzyme. This enzyme protects the fetus and mother from excess androgens by converting them into estrogen.
Naseem Aamir   +6 more
doaj   +1 more source

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

open access: yesCase Reports in Pathology, 2021
Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient’s karyotype, gonadal dysgenesis, and the appearance of the internal ...
Steffen Gretser   +3 more
doaj   +1 more source

Transition From Child to Adult Eating Disorder Services: A Qualitative Meta‐Aggregation

open access: yesEuropean Eating Disorders Review, EarlyView.
ABSTRACT Background Some young people with eating disorders (EDs) require transfer from paediatric to adult services, which can be difficult and distressing. While most research on this topic is qualitative, no qualitative focused synthesis yet exists.
Amelia Austin   +14 more
wiley   +1 more source

Genital Ambiguity in a 46, XY individual : a Rare Case

open access: yesAndalas Obstetrics and Gynecology Journal
Introduction: Ambiguous genitalia/disorders of sexual development (DSD) is a disorder of sexual development that is atypical chromosomally, gonadally and anatomically, which is generally characterized by the presence of unclear external genitalia, which ...
Zata Yuda Amaniko, Haviz Yuad
doaj   +1 more source

Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome

open access: yesFrontiers in Pediatrics, 2020
The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with
Cheng Cheng   +4 more
doaj   +1 more source

‘We Need Help Too’—The Forgotten Stakeholders: Exploring the Needs of Carers During Their Young Persons' Transition From Child to Adult Eating Disorder Services

open access: yesEuropean Eating Disorders Review, EarlyView.
ABSTRACT Background Carers are essential in their young person's recovery during transition from child to adult eating disorder services. Despite recommendations, carer's own needs can be overlooked in transition planning. Subsequently, carers experience distress in supporting their young person and navigating the transition.
Isabel Lenham   +13 more
wiley   +1 more source

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism
Purpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Heeyon Yoon   +4 more
doaj   +1 more source

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