Results 41 to 50 of about 275,515 (341)

Distal renal tubular acidosis a rarely diagnosed cause of failure to thrive: A report of three cases

open access: yesIbom Medical Journal, 2007
SUMMARY Three cases of distal renal tubular acidosis aged between 6 - 12weeks are described. The presenting features included lethargy, refusal to feed, marked periodic respiration, vomiting and recurrent episode of unexplained metabolic acidosis.
Adeleke SI, Asani MO
doaj   +1 more source

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]

open access: yes, 2015
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff   +26 more
core   +3 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Young Adult Failure to Thrive Syndrome [PDF]

open access: yes, 2011
Many young working age adults in developed countries are failing to thrive in economic, demographic and social terms. Their 'failure to thrive' is a relatively new phenomenon that has not been widely recognized, but it affects young adults in virtually ...
Sanderson, W.C.   +2 more
core  

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Blood‐based proteomic profiling reveals context‐dependent changes in BCL2‐associated signaling during taxane therapy in breast cancer patients

open access: yesFEBS Open Bio, EarlyView.
Chemotherapy side effects significantly impact cancer survivors' quality of life. Using protein levels in blood samples from breast cancer patients before and after 12 weeks of taxane treatment, we detected treatment‐dependent changes in calcium signaling and aging pathways associated with cancer recurrence.
Saira Munshani   +6 more
wiley   +1 more source

Adolescent inhalant abuse leads to other drug use and impaired growth; implications for diagnosis

open access: yesAustralian and New Zealand Journal of Public Health, 2017
Objective: Abuse of inhalants containing the volatile solvent toluene is a significant public health issue, especially for adolescent and Indigenous communities.
Rose Crossin   +3 more
doaj   +1 more source

Failure to think about failure to thrive [PDF]

open access: yesArchives of Disease in Childhood, 2006
Perspective on the paper by Olsen et al ( see 109 ) Failure to thrive (FTT) or weight faltering has been regarded as an important problem in infancy1 associated with a range of paediatric conditions from coeliac disease2 to sudden infant death syndrome.3 Growth monitoring, perhaps the most common child surveillance activity,4 aims, among other things,
openaire   +2 more sources

What is the clinical workup for failure to thrive? [PDF]

open access: yes, 2008
The clinical evaluation of failure to thrive (FTT) includes a thorough history and physical examination; observation of parent-child interactions; observation and documentation of the child's feeding patterns; and a home visit by an appropriately trained
Gentry, Barry C.   +3 more
core  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

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