Results 41 to 50 of about 673,439 (269)

Swenson-like pull-through for treatment of the rare association between Hirschsprung’s disease and anorectal malformation

BMC Pediatrics
Background Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak, Mohamed Mansy, Hazem Khafaga, Yasmine Ghazaly, Reem Saeed, Nada Yakout, Saber Waheeb, Mostafa Zain   +7 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Congenital Leukemia [PDF]

Indian Journal of Hematology and Blood Transfusion, 2013
Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85-88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very
Aishwarya, Raj, Sewali, Talukdar, Smita, Das, Pabitra Kumar, Gogoi, Damodar, Das, Jina, Bhattacharya   +5 more
openaire   +2 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Silibinin efficacy in a rat model of pulmonary arterial hypertension using monocrotaline and chronic hypoxia

Respiratory Research, 2019
Background C-X-C chemokine receptor type 4 (CXCR4) may be involved in the development of pulmonary arterial hypertension (PAH). CXCR4 inhibitor AMD3100 was described to have a positive effect on the prevention of pulmonary arterial muscularization in PAH
Tingting Zhang, Nanako Kawaguchi, Kenji Yoshihara, Emiko Hayama, Yoshiyuki Furutani, Kayoko Kawaguchi, Takeshi Tanaka, Toshio Nakanishi   +7 more
doaj   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Perfusion techniques for an 800 g premature neonate undergoing Arterial Switch Procedure for Transposition of the Great Arteries★

The Journal of ExtraCorporeal Technology
Early cardiac surgery in neonates and infants with congenital heart disease has been performed since the middle to late years of the twentieth century.
Owens Richard, Loftin Madeline, Rosten Kellen, Fisher Douglas, Denison Blake, Gottlieb Erin, Fraser Charles   +6 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Complex aortic valve repair in congenital patients: clinical feedback

Frontiers in Pediatrics
IntroductionIn the congenital population, particularly in young adults, the best strategy for aortic valve surgery has not been clearly established. This study investigates the mortality, perioperative morbidity and echocardiographic evolution of complex
Marie-Anne Barbier, Nicolae Cristian Bulescu, Olivier Metton, Lea Bou Karam, Caroline Martin Bonnet, Anne Moulin Zinsch, Marc Lilot, Roland Henaine   +7 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source