Recent Neonatal Kidney Publications

A case of Potter sequence with WT1 mutation

1 month 2 weeks ago
Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure develops after birth. We report an unusual case of Potter sequence due to fetal nephropathy and kidney failure with a WT1 mutation. The neonate was born at 37 weeks of gestation, and had no distinctive facial appearance or anomalies of the extremities. The external genitalia were ambiguous. Presence of a penile-like structure or hypertrophic clitoris was noted, and the...
Miwa Yoshino

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision

1 month 2 weeks ago
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH...
Nikolas Boy

Stem-Loop I of the Tembusu Virus 3'-Untranslated Region Is Responsible for Viral Host-Specific Adaptation and the Pathogenicity of the Virus in Mice

1 month 2 weeks ago
Tembusu virus (TMUV), an avian mosquito-borne flavivirus, was first identified from Culex tritaeniorhynchus in 1955. To validate the effects of the 3'-untranslated region (3'UTR) in viral host-specific adaptation, we generated a set of chimeric viruses using CQW1 (duck strain) and MM 1775 (mosquito strain) as backbones with heterogeneous 3'UTRs. Compared with rMM 1775, rMM-CQ3'UTR (recombinant MM 1775 virus carrying the 3'UTR of CQW1) exhibited enhanced proliferation in vitro, with peak titers...
Li Mao

Pre-viable preterm premature rupture of membranes under 20 weeks of pregnancy: A retrospective cohort analysis for potential outcome predictors

1 month 3 weeks ago
CONCLUSION: Anhydramnios combined with low gestational age at PPROM appear to negatively influence neonatal outcome after pre-viable preterm premature rupture of membranes. The incidence of neonatal complications decreased with increasing gestational age. Survival without long term severe morbidity is possible. Maximal therapy is an interdisciplinary decision and the patients should be counseled accordingly. Delivery in centers where potential postnatal complications including pulmonary...
Katrina Kraft

Caudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases

1 month 3 weeks ago
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by arrest of caudal spinal growth and associated with wide spectrum multisystemic anomalies. Herein, we presented a case of a newborn baby who did not pass meconium due to imperforated anus and was referred to the pediatric surgeon for urgent diverting loop colostomy. The conventional X-ray, abdominal ultrasound and abdominal pelvic magnetic resonance imaging (1.5 T) at 2-month-old age revealed right kidney agenesis,...
Hana' Qudsieh

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism

1 month 3 weeks ago
CONCLUSIONS: Metabolic acidosis and hyperammonemia are emerging predictors of poor outcome and mortality. Based on a large number of infants from a single center, survival in neonatal-onset OA has increased over the course of 30 years, but long-term complications and neurodevelopmental results remain similar. While prompt onset of more effective treatment may improve survival, newer treatment modalities are urgently needed for prevention and treatment of chronic complications.
Yagmur Unsal