Toshiya Nishikubo

22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?

We report here on two unrelated patients (Patients 1 and 2) with a cryptic microduplication involving a 22q13 segment. Both patients manifested infantile hypotonia, developmental delay, and growth deficiency. In addition, an abnormal signal intensity area was detected in the frontal white matter of Patient 2 by brain MRI. Whole‐genome microarray comparative genomic hybridization for Patient 1 and fluorescence in situ hybridization analysis with 22q‐subtelomeric probes performed in both patients showed a submicroscopic 22q13 duplication that involved the SHANK3 gene. The duplication in Patient 1 was de novo type, while that in Patient 2 was derived from a familial 17;22 translocation. The presence of common clinical manifestations in the two patients with the common duplicated region led to a conclusion that 22q terminal duplication is a recognizable clinical entity, that is, the 22q13 microduplication syndrome.

Efficacy of micafungin in treating four premature infants with candidiasis.

Background:  Although clinical experience in neonates with candidiasis exists for amphotericin B and fluconazole, these standard treatments are often hindered by drug‐associated toxicity or development of resistant strains. The aim of the present study was therefore to investigate the efficacy and tolerability of a new antifungal agent, micafungin (MCFG), for treating Candida infections in premature infants.

Expression of Intrapulmonary Surfactant Apoprotein-A in Autopsied Lungs: Comparative Study of Cases with or without Pulmonary Hypoplasia

To investigate the functional maturity of the lungs of infants with pulmonary hypoplasia, we measured the expression of surfactant apoprotein-A (SP-A) in the autopsied lungs. Autopsied lungs were taken from 16 infants who died at birth or soon after. A lung-to-body weight ratio of less than 1.2% was defined as pulmonary hypoplasia. Eight infants were classified as belonging to the normal group, and eight as belonging to the pulmonary hypoplasia group. Many of the pulmonary hypoplasia group were complicated not only by pulmonary hypoplasia, but also by amniotic fluid volume abnormalities or an anatomical malformation. We measured the expression of SP-A immunologically using murine anti-human SP-A MAb in the autopsied lung tissue, and subjected the tissue to SP-A staining by the direct staining method. The expression of SP-A was assessed as one of four grades: −, ±, 1+, 2+. The staining intensity of SP-A was high at 1+ or stronger in five infants of the normal group. SP-A expression was significantly reduced, however, in all infants of the pulmonary hypoplasia group except for one infant with normal amniotic fluid volume and relatively mild pulmonary hypoplasia. There was a significant negative correlation between the staining intensity of SP-A and two factors: pulmonary hypoplasia and abnormal amniotic fluid volume (p = 0.039 and p = 0.0063, respectively). In the present study, we demonstrated that SP-A expression was significantly reduced in infants with pulmonary hypoplasia. We speculate that the functional maturity of the lungs of infants with pulmonary hypoplasia is also suppressed.

Renal impairment in very low birthweight infants following antenatal indomethacin administration

Three cases of neonatal renal insufficiency in very low birthweight (VLBW) infants following repeated antenatal administration of indomethacin to prevent premature labor are reported. Three pregnant women received indomethacin (total doses of 150–850 mg) for 3–14 days from admission until delivery. The gestational ages and birthweights of the infants ranged from 24 to 28 weeks and 612 to 1432 g, respectively. Oliguria, early onset of hyperkalemia and prolonged renal dysfunction occurred after birth. Renal failure did not improve in one infant.

A Neonate with Umbilical Arteriovenous Malformation Showing Hemorrhagic Shock from Massive Umbilical Hemorrhage

We describe herein the case of a 3-day-old male neonate with umbilical arteriovenous malformation showing umbilical hemorrhage. The patient was born after 38 weeks and 3 days of gestation with a birth weight of 2784 g. Sudden massive umbilical hemorrhage occurred on day 3. Cardiopulmonary arrest developed, but the patient was successfully rescued by immediate cardiopulmonary resuscitation. An umbilical venous catheter was inserted for blood access. However, umbilical hemorrhage continued and hemostasis was difficult. Congenital bleeding disorders were excluded based on laboratory findings. Ultrasonography on day 15 revealed a mass with rich blood supply directly under the umbilicus. Umbilical arteriovenous malformation was suspected from abdominal contrast-enhanced computed tomography on day 17. Excision of the arteriovenous malformation was performed on day 29. The mass was connected to three arteries including the umbilical arteries, with the umbilical vein flowing out from the mass. Umbilical arteriovenous malformation was diagnosed from evidence during the operation and pathological findings. Umbilical arteriovenous malformations are rare and often discovered by heart failure symptoms, but rare cases present with umbilical bleeding, as in this report. Umbilical arteriovenous malformation must be taken into consideration as along with congenital bleeding disorders when massive umbilical hemorrhage is identified.

A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.

We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. Brain magnetic resonance imaging (MRI) showed abnormal findings with white matter involvement and a characteristic periventricular rim, satisfying the diagnostic criteria proposed by van der Knaap, except for MRI contrast. R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.

Children with Down's syndrome display high rates of hyperuricaemia

Several studies show that hyperuricaemia, abnormally high levels of uric acid in the blood, frequently occurs in adult Downs syndrome patients, but paediatric research is scarce. We aimed to clarify its prevalence in paediatric Downs syndrome patients and its association with lifestyle‐related laboratory variables and nutritional intake, to consider possible effects in later life.

Efficacy of inchinkoto for a patient with liver fibrosis complicated with transient abnormal myelopoiesis in Down's syndrome

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Normal values for KL-6 in cord venous plasma of neonates.

Background: KL‐6 in umbilical cord blood, including from premature infants, and perinatal factors that may affect these values have not yet been adequately discussed. The authors investigated factors affecting cord venous plasma levels of KL‐6 in neonates, and to establish a normal range of values for KL‐6 in neonatal cord blood.

Identification of the motilin cells in duodenal epithelium of premature infants.

Abstract Background : The aim of the present study was to examine the presence of motilin in the duodenal epithelial cells of premature infants of <32 weeks gestation.