Results 51 to 60 of about 15,656 (183)

Do patients with Prader–Willi syndrome have favorable glucose metabolism?

Orphanet Journal of Rare Diseases, 2022
Background In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected glucose metabolism.
Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang, Chaochun Zou   +6 more
doaj   +1 more source

Clinical Case A clinical case of Prader–Willi syndrome [PDF]

Relevance. Prader–Willi syndrome (SPW) is a rare genetic disease associated with a predominant legion of the nervous system with subsequent involvement of other systems.
Tatiana A. Minenkova, Irina G. Khmelevskaya, Aleksandra V. Serezhkina, Natalia S. Razinkova, Darya R. Yakovleva, Rostislav E. Gromov   +5 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Prader-Willi syndrome: are there population differences? [PDF]

, 1982
A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome.
Butler, Merlin G., Weaver, David D., Meaney, F. John   +2 more
core   +2 more sources

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Prise en charge psychologique d'un cas du syndrome de Prader Willi: cas d'une jeune fille marocaine

The Pan African Medical Journal, 2019
Le syndrome de Prader Willi est une maladie génétique rare qui se manifeste par l'apparition d'une hyperphagie avec un risque d'obésité morbide, des difficultés d'apprentissage et des troubles du comportement, voire des troubles psychiatriques majeurs. L'
Lamyaa Benchikhi, Hind Nafiaa, Abdelaaziz Zaroual, Abderrazzak Ouanass   +3 more
doaj   +1 more source

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

Arquivos de Neuro-Psiquiatria, 2006
Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY ...
Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto   +2 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Obesity management in Prader–Willi syndrome: current perspectives [PDF]

, 2018
Antonino Crinò,1 Danilo Fintini,2 Sarah Bocchini,1 Graziano Grugni3 1Autoimmune Endocrine Diseases Unit, 2Endocrinology Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome; 3Division of Auxology, Italian ...
Grugni G, Fintini D, Bocchini S, Crinò A   +3 more
core  

A Factor‐Analytic Approach for Psychometric Properties of the Repetitive Behaviors Questionnaire‐3 (RBQ‐3) for Turkish Population

Autism Research, EarlyView.
ABSTRACT Restricted and repetitive behaviors (RRBs) are one of the diagnostic criteria for autism spectrum disorders (ASD), as well as being found in the general population. The current study aims to explore the psychometric properties of the Turkish self‐report and informant‐report forms of the Repetitive Behaviors Questionnaire‐3 (RBQ‐3) for ...
Volkan Avşar, Hatice Şengül Erdem, Asiye Şengül Avşar   +2 more
wiley   +1 more source