Results 121 to 130 of about 338,913 (237)

Etiologic disease & clinical characteristics of infantile hypotonia

, 2006
의학과/석사[한글] 근긴장저하는, 신생아시기에는 주로 비정상적인 자세와, 자발적 움직임이 부족한 양상으로 나타나며, 신생아기후의 영유아기에는 운동발달단계(motor milestone)의 지연으로 나타나기 때문에 재활의학과, 소아과, 신경과 의사들의 관심대상이 되어왔으나 그 원인질환의 범위가 매우 방대하며, 아직 밝혀지지 않은 부분도 많아 지속적인 연구가 필요한 부분이다.
김은혜
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Zellweger Syndrome: A Case Report

Journal of Nepal Medical Association
Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney.
Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar   +5 more
doaj   +1 more source

Temporomandibular joint disorder and gross motor function in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To determine the prevalence of the clinical signs and symptoms of temporomandibular joint (TMJ) disorder (TMD) in children with cerebral palsy (CP) and to examine their associations with severity of gross motor impairment, CP subtype, and caregiver‐reported bruxism. Method This cross‐sectional study included 517 children with CP (mean age =
Özge Baykan Çopuroğlu, Baki Umut Tuğay, Muhammet Furkan Vatan   +2 more
wiley   +1 more source

A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay

, 2008
Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine and especially triiodothyronine into target cells. It is expressed in brain neurons and in many other tissues.
Fretzayas, Andreas, Papavasiliou, Antigone, Papadimitriou, Anastasios, Nicolaidou, Polyxeni, Dumitrescu, Alexandra Mihaela, Refetoff, Samuel   +5 more
core   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Caring for a child with cerebral palsy in rural Malawi: A mixed‐methods study of caregiver experiences and support needs

Developmental Medicine &Child Neurology, EarlyView.
Caregivers of children with cerebral palsy in rural Malawi experience substantial physical, psychological, social, and economic burden. Caregiving often limits income, education, and social participation, while stigma and weak support intensify isolation.
Bente van der Meijden, Henderika Johanna Wedda, Alpheus Njewa, Alinafe Chisulanda Kusate, Ria Reis, Wieger Voskuijl   +5 more
wiley   +1 more source

Refining the Hammersmith Infant Neurological Examination proforma to facilitate the recording of neurological findings

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To report on changes to the Hammersmith Infant Neurological Examination (HINE) proforma that facilitate the recording of neurological findings. Method We first identified items that would benefit from more detail in the way they were presented on the proforma to aid correct administration and scoring.
Eugenio Mercuri, Leena Haataja, Daniela Ricci, Domenico M. Romeo, Marianna Moro, Frances M. Cowan   +5 more
wiley   +1 more source

Extremely Rare Neonatal Case With Pyloric Atresia, Heart Defects, Hypotonia, Jaundice, and Acidosis

Clinical Case Reports
Pyloric atresia (PA) is an exceptionally rare congenital cause of gastric outlet obstruction, often associated with syndromic conditions such as epidermolysis bullosa (EB).
Saja Abouodeh, Yasmeen Alshami, Osama Hroub, Mohammad Hroub, Ahmad G. Hammouri, Ahmad Shaltaf, Wafa Shihadeh, Nimatee Dawod   +7 more
doaj   +1 more source

GSK3α‐mediated regulation of the RNA demethylase fat mass and obesity‐associated protein (FTO) during murine spermatogenesis

The FEBS Journal, EarlyView.
FTO regulates mRNA stability and translational efficiency through its m6A‐demethylation activity. GSK3 functions as an upstream regulator of FTO, leading to its inhibition via phosphorylation. In male germ cells, FTO activity is kept in check by GSK3α.
Neha Choudhari, Budheswar Dehury, Rounak Roy, Radhakrishnan Periyasamy, Indrashis Bhattacharya, Mahesh Sahare, Srinivasan Vijayraghavan, Souvik Dey   +7 more
wiley   +1 more source

Doing Death 'Well': Reframing Neonatal and Perinatal Palliative Care

, 2018
Description Death is a part of life in the NICU, and any clinician associated with labor and delivery and the care of newborns will inevitably experience perinatal death and bereavement.
Kain, Victoria
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