Results 241 to 250 of about 345,481 (316)

Multidisciplinary Management and Anesthesia Considerations for Diabetic Ketoacidosis With Hypertriglyceridemic Acute Pancreatitis in Pregnancy: A Case Report. [PDF]

Am J Case Rep
Liu P, Li T, Yu S, Liu F, Huang L.
europepmc   +1 more source

Report of 21 Cases of Neonatal Cholestasis in a Childrens Hospital in Cartagena, Colombia [PDF]

, 2015
Jorge José Mendoza H, Rodrigo De Vivero C, Nelson Muñoz A, Amileth Suarez C, Carlos Moneriz P   +4 more
openalex  

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Congenital Varicella Syndrome and Crossed Nonfused Renal Ectopia in a Neonate: A Case Report. [PDF]

Cureus
Jain N, Goyal V, Sreekantha S.
europepmc   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Cervical neonatal teratoma in Sudan: a case report. [PDF]

J Surg Case Rep
Rahama A, Alla MWKR, Ali MEM, Elamien MMM.   +3 more
europepmc   +1 more source

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

Transient Congenital Nephrotic Syndrome in Neonates: Two Case Reports and Review of Recent Literature. [PDF]

Cureus
Almohayya T, Al Zahrani AA, Edris SM, Alshaya H.   +3 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Ampicillin-induced Acute Generalized Exanthematous Pustulosis in a Neonate: A Rare Cutaneous Adverse Reaction. [PDF]

Acta Derm Venereol
Huang MZ, Chen JJ, Huang X, Liu XL.
europepmc   +1 more source