Breastfeeding in a patient with chronic myeloid leukemia during tyrosine kinase inhibitor therapy.

Introduction: Although imatinib is the first-line of therapy for Philadelphia chromosome (Ph)-positive chronic myeloid leukemia (CML), in Japan, it is recommended by the manufacturer that lactating women treated with imatinib mesylate for CML should discontinue breastfeeding their infants.

Case: A 32-year-old pregnant patient was diagnosed with Ph-positive CML at 13 weeks of gestation. She received imatinib (400 mg/day) after 28 weeks of gestation.

Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.

Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. Mutations in DYNC2H1 have been identified in both of these disorders, indicating that they are variants of a single disorder. However, short-rib polydactyly syndrome type III is the more severe variant.

Thrombosed dural sinus malformation in a fetus: a case report.

Background And Purpose: A thrombosed dural sinus malformation (DSM) is a rare condition, the clinical features of which have not yet been completely characterized. Here, we describe the clinical course of a patient with a thrombosed DSM and discuss the outcomes in live birth cases from a review of the literature.

Case Description: An ultrasonography examination of a 32-year-old woman at 25 weeks' gestation indicated a fetal posterior fossa mass.

Neonatal pleural empyema caused by emm type 6 group A streptococcus.

Since the mid-1980s, there have been increasing reports of severe invasive group A streptococcal (GAS) disease in children and adults. There are few reports, however, of neonatal invasive disease, particularly neonatal pleural empyema caused by GAS. Although many mechanisms have been reported for the pathophysiology of invasive GAS infections, similar reports for neonates were unable to be located.

Glycated albumin is lower in infants than in adults and correlated with both age and serum albumin.

Background: Glycated albumin (GA) reflects glycemic control in patients with neonatal diabetes mellitus (NDM). However, GA in NDM patients is apparently low in relation to glycemia.

Objective: To establish the reference intervals for GA in healthy infants.

Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.

Heterozygous COL2A1 mutations create a group of skeletal dysplasias collectively termed type II collagenopathies. Sporadic cases of type II collagenopathies are almost exclusively caused by de novo mutations. Very few cases with intrafamilial recurrence due to germinal mosaicism have been known.