Results 121 to 130 of about 2,057,508 (290)

Pediatr Infect Dis J [PDF]

Background:Sensorineural hearing loss (SNHL) is well described in children with congenital cytomegalovirus (CMV) infection, but limited data are available on middle ear effusion (MEE) occurrence in this population.

core  

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Congenital Infection Influence on Early Brain Development Through the Gut-Brain Axis. [PDF]

Front Neurosci, 2022
Kirschen GW, Panda S, Burd I.
europepmc   +1 more source

Real-time PCR versus viral culture on urine as a gold standard in the diagnosis of congenital cytomegalovirus infection

, 2012
Background: Cytomegalovirus (CMV) infection is the most common cause of congenital infection. Whereas CMV PCR has replaced viral culture and antigen detection in immunocompromised patients because of higher sensitivity, viral culture of neonatal urine is
Vossen, Ann C. T. M., Pas, S.D., Wolthers, K.C., Kroes, Aloys C. M., Claas, E.C., Rusman, Lisette G., Wolthers, KC, van der Eijk, Annemiek A., Rusman, L.G., Baltissen - van der Eijk, Annemiek, Pas, Suzan, de Vries, JJC, Molenkamp, R, Eijk, A.A. van der, Wolthers, Katja C., Pas, Suzan D., Vries, J.J.C. de, Molenkamp, Richard, de Vries, Jutte J. C., Kroes, A.C.M., Claas, EC, Kroes, ACM, Vossen, A.C.T.M., Molenkamp, R., Vossen, ACTM, Claas, Eric C., Rusman, LG   +26 more
core   +1 more source

Basophilic Stippling Unmasks Pyrimidine 5′‐Nucleotidase Deficiency in a G6PD‐Deficient Patient

American Journal of Hematology, EarlyView.
Victor Bobée, Stéphane Moutereau, Maïssa Souissi, Pierre Lebreton, Loïc Garcon   +4 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Congenital Infection of Severe Acute Respiratory Syndrome Coronavirus 2 With Intrauterine Fetal Death: A Clinicopathological Study With Molecular Analysis. [PDF]

Clin Infect Dis, 2022
Lesieur E, Torrents J, Fina F, Zandotti C, Blanc J, Collardeau-Frachon S, Gazin C, Sirgant D, Mezouar S, Otmani Idrissi M, Lepidi H, Bretelle F, Mege JL, Daniel L, Fritih R.   +14 more
europepmc   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson, Madeline P. Bald, Lauren McLeod, Adam J. Skelton, Nicolaus D. Knight, Do‐Yeon Cho, Justin Turner, Hari Jeyarajan, Kristen O. Riley, Bradford A. Woodworth   +9 more
wiley   +1 more source