Results 61 to 70 of about 233,196 (250)
Obesity-related pubis lymphedema enclosing genitalia: An atypical case of genital reconstruction
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]
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
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
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
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
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
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
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
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]
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

