Results 41 to 50 of about 154,323 (265)

Quality evaluation of snack produced from black pepper (Piper nigrum L.), plantain (Musa paradisiaca L.), and tigernut (Cyperus esculentus L.) flour blends

Cogent Food & Agriculture, 2019
Chin-chin has been identified to be one the favored food items and a much-relished pastry which has been eaten as dessert or snack. This study aimed at evaluating the nutritional quality and organoleptic properties of black-pepper enriched chin-chin ...
Ebenezer Oluwaseun Adelekan, Mojisola Olanike Adegunwa, Abdulrasaq Adesola Adebowale, Henri Adegoke Bakare, Emmanuel Oladeji Alamu   +4 more
doaj   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Hereditary chin trembling or hereditary chin myoclonus? [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1997
Hereditary chin trembling is a rare autosomal dominant disease often considered as an "essential tremor variant". The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus.
A, Destee, F, Cassim, L, Defebvre, J D, Guieu   +3 more
openaire   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

RECONSTRUCTION OF CHIN DEFECT POST BASAL CELL CARCINOMA EXCISION USING RHOMBOID FLAP: A CASE REPORT

Jurnal Rekonstruksi dan Estetik
Highlights: • BCC is strongly associated with UV radiation exposure,commonly affecting the face, but the chin is rarely involved (1.2% incidence). • Chin reconstruction after BCC excision is challenging, requiring careful flap selection for function ...
Yeremia Maruli Togatorop, Saktrio D. Subarno   +1 more
doaj   +1 more source

Potentials of indigenous chicken eggs in the preparation of cake and chin chin

Journal of the Saudi Society of Agricultural Sciences, 2019
In this study, the potential of indigenous egg as functional ingredient in cake and chin chin was investigated. The proximate, colour and sensory characteristics of the pastries evaluated using standard methods.
Samson A. Oyeyinka, Sarat Olatunbosun, Adewumi T. Oyeyinka, Mutiat A. Balogun, Adegbola A. Dauda, Muinat A. Obalowu, Abdul-Hameed A. Badmos, John K. Joseph   +7 more
doaj   +1 more source

Refining Detection of Subclinical Epileptiform Activity in Alzheimer's Disease: A Case–Control Study and Call for a Consensus

Annals of Neurology, EarlyView.
Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo, Jonathan Curot, Fleur Gérard, Florence Rulquin, Rachel Debs, Claire Georges, Marie Denuelle, Amel Bouloufa, Béatrice Lemesle, Patrice Péran, Claire Thalamas, Emmanuel J. Barbeau, Jérémie Pariente, Lionel Dahan, Luc Valton   +14 more
wiley   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

CD8+ T cell memory is sustained in mice by hepatic stellate cells

Hepatology, EarlyView., 2022
HSC role in memory CD8+ T cell maintenance. Abstract Background and Aims Long‐lasting immunological memory is the ultimate goal of vaccination. Homeostatic maintenance of memory CD8+ cytotoxic T cells (MemCD8TCs) is thought to be mediated by IL‐15/IL‐15R heterodimer (15HD)‐expressing myeloid cells.
Yi‐Ting Chen, Yu‐Chia Su, Yee‐Ern Or, Chin‐Fu Cheng, John T. Kung   +4 more
wiley   +1 more source