Jana Malíková

Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions

Eriselda Profka, Alessandra Mangone, Franco Antoniazzi, Federico Baronio et autres

BACKGROUND: Complete androgen insensitivity syndrome (CAIS) is a rare condition affecting sex development. Due to limited literature, especially for providing care in adulthood, clinical management remains challenging, and several issues remain inadequately addressed. METHODS: We conducted an international survey to examine current …

it, at, be, fr, pl, nl, de, cz, cy, ps, es, dk (code pays fourni par la source)

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias et autres

Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), where loss-of-function (LoF) variants cause a rare neurodevelopmental and (treatable) …

nl, ar, es, us, de, tr, gb, ca, ro, it, cl, fr, au, in, ch, hu, pl, cz, br (code pays fourni par la source)

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh-Elzenaty, Grit Sommer et autres

BACKGROUND: Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants. METHODS: We investigated genetic patterns of possible oligogenicity in a cohort of 30 individuals with …

ch, es (code pays fourni par la source)

A patient with different sex development (DSD)

Jana Malíková, Jan Lebl, Marta Šnajderová, Jiřina Zapletalová

Edukan informace pro lkae a dal zdravotnick pracovnky. Text byl pipraven na zklad dosti Ministerstva zdravotnictv R skupinou vybranch odbornk s clem zvit odbornou kvalifikaci lka a dalch zdravotnickch pracovnk v prvotn diagnostice a dal pi pi narozen dtte s odlinm pohlavnm …

cz, sk, hr (code pays fourni par la source)

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty et autres

BACKGROUND: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. METHODS: We conducted a retrospective analysis on the so far largest international …

ch, es, be, gb, il, tr, us (code pays fourni par la source)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, van Geest FS, Ayhan Abacı, Alberto Alcantud et autres

Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting …

nl, ch, tr, ca, us, ro, it, cl, fr, hu, au, pl, de, cz, br, gb (code pays fourni par la source)

Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study

Martin Bezdíčka, Petra Kleiblová, J Soucek, Marianna Borecká et autres

cz (code pays fourni par la source)

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carolina Morán, Athanasia Stoupa et autres

The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC – the T3 analogue 3,3’,5-tri-iodothyroacetic acid …

gb, nl (code pays fourni par la source)

EXPERIENCES WITH EXPANDED CRITERIA DONORS: 10-YEAR ANALYSIS OF THE MARTIN, SLOVAKIA TRANSPLANT CENTER

Ivana Dedinská, Blažej Palkóci, Juraj Miklušica, Martin Vojtko et autres

Background and Aims: Kidneys from expanded criteria donors with diagnosis of brain death have become a part of the organ transplant program, which have thus increased the number of transplants. Method: In this retrospective analysis, we identified the expanded criteria donors in …

sk (code pays fourni par la source)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud et autres

nl, tr, gb, ca, us, ro, it, cl, fr, au, in, ch, hu, pl, de, cz, br, Afrique du Sud, il (code pays fourni par la source)

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants

Jana Malíková, Alba Kaci, Petra Dušátková, Ingvild Aukrust et autres

CONTEXT: While rare variants of the hepatocyte nuclear factor-1 alpha (HNF1A) gene can cause maturity-onset diabetes of the young (HNF1A-MODY), other variants can be risk factors for the development of type 2 diabetes. As has been suggested by the American College of …

cz, no (code pays fourni par la source)

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carla Moran, Athanasia Stoupa et autres

Background Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T 3 ) concentrations (Allan–Herndon–Dudley syndrome). This chronic thyrotoxicosis leads to progressive deterioration in bodyweight, tachycardia, and muscle wasting, predisposing affected …

nl, gb, fr, it, ro, cz, Afrique du Sud, be, de (code pays fourni par la source)