Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism.

The yeast glucose-induced degradation-deficient (GID) E3 ubiquitin ligase forms a suite of complexes with interchangeable receptors that selectively recruit N-terminal degron motifs of metabolic enzyme substrates. The orthologous higher eukaryotic C-terminal to LisH (CTLH) E3 complex has been proposed to also recognize substrates through an alternative subunit, WDR26, which promotes the formation of supramolecular CTLH E3 assemblies. Here, we discover that human WDR26 binds the metabolic enzyme nicotinamide/nicotinic-acid-mononucleotide-adenylyltransferase 1 (NMNAT1) and mediates its CTLH E3-dependent ubiquitylation independently of canonical GID/CTLH E3-family substrate receptors.

Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies.

Ubiquitylation is catalyzed by coordinated actions of E3 and E2 enzymes. Molecular principles governing many important E3-E2 partnerships remain unknown, including those for RING-family GID/CTLH E3 ubiquitin ligases and their dedicated E2, Ubc8/UBE2H (yeast/human nomenclature). GID/CTLH-Ubc8/UBE2H-mediated ubiquitylation regulates biological processes ranging from yeast metabolic signaling to human development.

The Effect of Breastfeeding on Food Allergies in Newborns and Infants.

Breastfeeding is the preferred method of infant feeding and its establishment is one of the primary goals for the infant. Allergic diseases are common in childhood, with increased morbidity. Food allergies are also associated with a strong negative impact on health-related quality of life and is a major public health problem.

Neuropsychological Profile of Hospitalized Patients Due to COVID-19: Clinical and Inflammatory Correlates.

Objectives: In the present study, we investigated the pattern of cognitive difficulties in hospitalized patients due to COVID-19 and its relation with the clinical features of the disease.

Method: Forty hospitalized patients with COVID-19 [mean age: 46.98 years (SD = 9.

Saccharina latissima, candy-factory waste, and digestate from full-scale biogas plant as alternative carbohydrate and nutrient sources for lactic acid production.

To substitute petroleum-based materials with bio-based alternatives, microbial fermentation combined with inexpensive biomass is suggested. In this study Saccharina latissima hydrolysate, candy-factory waste, and digestate from full-scale biogas plant were explored as substrates for lactic acid production. The lactic acid bacteria Enterococcus faecium, Lactobacillus plantarum, and Pediococcus pentosaceus were tested as starter cultures.

Adaptive laboratory evolution to hypersaline conditions of lactic acid bacteria isolated from seaweed.

Seaweed biomass has been proposed as a promising alternative carbon source for fermentation processes using microbial factories. However, the high salinity content of seaweed biomass is a limiting factor in large scale fermentation processes. To address this shortcoming, three bacterial species (Pediococcus pentosaceus, Lactobacillus plantarum, and Enterococcus faecium) were isolated from seaweed biomass and evolved to increasing concentrations of NaCl.

The Effects of Photosensitizing Dyes Fagopyrin and Hypericin on Planktonic Growth and Multicellular Life in Budding Yeast.

Naphthodianthrones such as fagopyrin and hypericin found mainly in buckwheat ( spp.) and St. John's wort (SJW) ( L.

Case Report: Intracranial Hypertension Secondary to Guillain-Barre Syndrome.

Guillain-Barre Syndrome (GBS), a common cause of acute flaccid paralysis, is characterized by a rapidly progressive, usually symmetric weakness of the extremities. Headache and intracranial hypertension (ICHT) are very rare complications of GBS. Herein we report our current case of an obese girl with typical signs of GBS associated with autonomic dysfunction, cranial nerve deficits and increased intracranial pressure (ICP).

Pelvic hypoplastic kidney in a patient with Williams-Beuren syndrome.

Renal and renovascular abnormalities constitute features of the Williams-Beuren syndrome (WBS), one multisystem genetic disorder in childhood, caused by a microdeletion of chromosome 7. We report a 12 years old boy who was diagnosed with WBS and had an ectopic pelvic hypoplastic left kidney, detected by ultrasonography and renal scintigraphy. Dystopic hypoplastic kidney is an infrequent finding in patients with WBS and our report showed the importance of a complete clinical and laboratory study of renal function in WBS.

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of cognitive impairment, and multiple congenital anomalies including characteristic facies, cardiac, and ectodermal abnormalities. CFC syndrome is caused by mutations in the genes BRAF, MEK1, or MEK2. Here we provide a follow-up report on two patients presenting distinct facial appearance and other features of the syndrome, and we present the first molecular evidence of paternal origin for a CFC-causing germline mutation.

Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

We report on a 2-year-old boy with intellectual disabilities, distinctive facies, hypotonia, cardiac, and renal malformations. During his infancy he had recurrent episodes of apnea, cyanosis, and bradycardia. Chromosomal analysis showed a de novo apparently balanced translocation 46,XY,t(9;15)(q31;q26)dn.

Can low doses of simvastatin enhance fracture healing? An experimental study in rabbits.

Several observational and experimental studies have investigated the potential anabolic effects of statins on undisturbed bone but only a few recent studies have examined the effect of statins on skeletal repair. The goal of the study is to investigate any potential early anabolic effect of the systemic administration of simvastatin in low doses (based on earlier safety and efficacy studies on undisturbed bone) on fracture healing. Fifty-four skeletally mature male New Zealand White rabbits were used for the study.

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.

Mitochondrial DNA mutations are undoubtedly a factor that contributes to sensorineural, non-syndromic deafness. One specific mutation, the A1555G, is associated with both aminoglycoside-induced and non-syndromic hearing impairment. The mutation is considered to be the most common of all mitochondrial DNA deafness-causing mutations but its frequency varies between different populations.

Cervical lymphadenopathy in childhood epidemiology and management.

Cervical lymphadenopathy (CL) is common in childhood. The aim of this study is to evaluate the etiology, follow-up, and treatment of persistent CL. The authors studied retrospectively 50 children with CL, hospitalized at the Department of Pediatrics and Pediatrics Surgery.

Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.

We describe a new family with Adams-Oliver syndrome (AOS). The propositus is a 14-month-old boy presenting with aplasia cutis congenita, distal limb transverse defects, growth retardation, and a wide atrial septal defect. Central nervous system abnormalities included central hypotonia, and magnetic resonance imaging (MRI) findings consistent with periventricular leukomalacia (PVL).

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.

Background: Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six de novo and six familial, with apparently balanced translocations and mental retardation and/or congenital malformations by applying 1 Mb resolution array-CGH. In all de novo cases, only the patient was a carrier of the translocation and had abnormal phenotype.

Human placental growth hormone is increased in maternal serum in pregnancies affected by Down syndrome.

Objective: To evaluate the relationship between maternal serum levels of human placental growth hormone (hPGH) and fetal Down syndrome at gestational midtrimester.

Methods: We retrospectively analyzed samples of serum from 21 women with Down syndrome pregnancies detected at gestational midtrimester. The samples were obtained at 16-23 weeks' gestation during amniocentesis for fetal karyotyping.

Stroke following Glenn anastomosis in a child with inherited thrombophilia.

The optimal anticoagulation following Fontan operation and its modifications remain controversial and it is even less well defined as regards patients with inherited thrombophilia. We present a case of a child with bidirectional Glenn anastomosis for double inlet left ventricle that suffered a stroke despite aspirin prophylaxis; the patient was combined homozygous for prothrombin G20210A mutation and for methylenetetrahydrofolate reductase C677T mutation as well. The family history was positive for fetal loss and premature cardiovascular disease.

3C syndrome with cryptorchidism and posterior embryotoxon.

We report a case of the 3C (cranio-cerebello-cardiac) syndrome, also known as Ritscher-Schinzel syndrome, a rare autosomal recessive disorder characterized by craniofacial, cerebellar, and cardiac anomalies. In addition to features previously reported the child had Wormian bones of the skull, intra-abdominal testes, and posterior embryotoxon that have not previously been reported as part of the 3C syndrome.

Prenatal diagnosis of trisomy 2 mosaicism: a case report.

We report a case of trisomy 2 mosaicism detected upon amniocentesis in a woman with advanced maternal age. A mos 47,XY,+2(4)/46,XY(21) karyotype was revealed using standard GTG banding. There were no pathological sonographic findings and the fetal size was normal for gestational age at 16th week.