Results 31 to 40 of about 44,026 (275)
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Characteristics of thyroid nodules in infant with congenital hypothyroidism [PDF]
Korean Journal of Pediatrics, 2014 PurposeThis study aimed to assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism.MethodsA retrospective study of 660 infants (374 males, 286 females) diagnosed with congenital hypothyroidism was carried out ...
Seo Young Youn +3 more
doaj +1 more source
Congenital hypothyroidism in neonates
Indian Journal of Endocrinology and Metabolism, 2014 Congenital hypothyroidism (CH) is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns.The aim of this study is to determine the frequency of CH in neonates.This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical
Asif Hanif +4 more
openaire +3 more sources
Journal of Education and Health Promotion, 2019 BACKGROUND: Considering the high prevalence rate of congenital hypothyroidism CH in Iran, an epidemiological study in each region would be helpful in understanding the etiology of the disorder and providing preventative strategies in this field.
Zeinab Hemati +8 more
doaj +1 more source
NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]
, 2019 Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P +6 more
core +1 more source
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]
, 1996 Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Felice, Alex +3 more
core
BMC Pediatrics, 2010 Background Thyroid hormone treatment in children with congenital hypothyroidism can prevent intellectual disability. Guidelines recommend that children diagnosed with congenital hypothyroidism through newborn screening remain on treatment to at least 3 ...
Grosse Scott D +2 more
doaj +1 more source
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source