Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation.

Kagami-Ogata syndrome (KOS) is an imprinting disorder characterized by polyhydramnios, bell-shaped thorax with coat-hanger appearance (curved ribs), respiratory distress, abdominal wall defects, and distinct facial features, together with intellectual developmental delay with special needs. Abnormal expression of the imprinted genes on chromosome 14q32.2 causes KOS.

Actual incidence of severe neonatal hypoglycemia in non-risk term neonates: A 10 year survey of all cases in Toyama Prefecture, Japan.

Background: Severe neonatal hypoglycemia may cause irreversible neurological sequelae. Although blood glucose (BG) screening in term neonates without risk factors for hypoglycemia (non-risk neonates) is not recommended in the current guidelines, severe hypoglycemia can occur in such neonates. To evaluate the necessity of BG screening in non-risk neonates, it is important to determine the accurate incidence of severe hypoglycemia in those neonates.

The efficacy of pacemaker implantation for extracardiac total cavopulmonary connection in a pediatric patient with bradycardia-tachycardia syndrome.

A 9-year-old boy, diagnosed with double outlet right ventricle after birth, suffered sinus node dysfunction and non-sustained junctional tachycardia after an extracardiac total cavopulmonary connection (TCPC). Spontaneous atrial tachycardia appeared 3 years after an extracardiac TCPC. Sotalol was administered but the bradycardia was obvious.

Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy.

Objective: Patients with congenital myotonic dystrophy (CDM) tend to be born preterm. Although the CDM severity generally depends on the CTG repeat length, prematurity may also affect the prognosis in patients with CDM. Given that preterm birth is expected to increase the risk of CDM in newborns, we investigated the outcomes of newborns with CDM according to gestational age to assess prematurity and the CTG repeat length for predicting prognosis.

Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy.

Background: Human calmodulin (CALM) gene mutation has been reported to be related to inherited arrhythmia syndromes, but the genotype-phenotype relationship remains unclear.

Methods And Results: We report here a 4-year-old boy who had cardiac arrest while playing in a kindergarten playground. Cardiopulmonary resuscitation was initiated immediately.

Exclusive breast-feeding and postnatal changes in blood sodium, ketone, and glucose levels.

Background: Blood sodium and ketone are parameters of dehydration and fasting, respectively. Little is known, however, about the postnatal changes in these parameters in healthy, term, exclusively breast-fed neonates.

Methods: Capillary blood sodium, β-hydroxybutyrate (β-OHB), and glucose levels in 628 samples obtained from 392 healthy, term, exclusively breast-fed neonates during the first 12-143 h of life were examined.

Fetal closed head injuries following maternal motor vehicle accident: A clinicopathologic case report.

Rationale: The clinicopathologic appearance of fetal closed head injury (FCHI) due to a maternal motor vehicle accident has not been fully investigated because of its extreme rarity.

Patients Concern: A 22-year-old woman at 31 weeks of gestation was riding in the front passenger seat of a car, and another rightward-turning car struck the right side of her vehicle.

Diagnosis: Uterine injury with placental abruption was strongly suspected.

Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters.

Background: In pediatric patients, syncope commonly occurs as vasovagal syncope, or in epilepsy or orthostatic dysregulation. Cardiogenic syncope is rare but it is lethal, and needs to be promptly diagnosed and treated.

Methods And Results: We describe the cases of 11- and 15-year-old sisters with frequent syncope during exercise and emotional stress since the age of 10 and 12, respectively.

Heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ATP-binding cassette subfamily C member 8 (ABCC8) gene.

Gain-of-function ATP-binding cassette subfamily C member 8 (ABCC8) mutations are known to cause neonatal diabetes mellitus and maturity-onset diabetes in the young. However, the intrafamilial heterogeneous nature of diabetes caused by the ABCC8 mutation is not fully understood to date. To clarify the intrafamilial heterogeneous nature of monogenetic diabetes, we conducted a case study on a family with ABCC8 mutations.

Capillary Blood Ketone Levels as an Indicator of Inadequate Breast Milk Intake in the Early Neonatal Period.

Objective: To determine the utility of capillary blood ketone levels as an indicator of inadequate intake of breast milk in the early postnatal period.

Study Design: Levels of capillary blood beta-hydroxybutyrate (βOHB), the main ketone body in the blood, were measured with a bedside ketone meter in 585 full-term neonates aged 48-95 hours who were breastfed exclusively. Relationships between weight-loss percentage, blood sodium, glucose, pH, partial pressure of carbon dioxide, base-deficit levels, and βOHB levels were investigated.

Virus myocarditis in a 1-month-old boy presenting as two types of paroxysmal supraventricular tachycardia.

Herein we describe the case of a 1-month-old boy with acute viral myocarditis, who presented with two kinds of paroxysmal supraventricular tachycardia, and who was cured after medical treatment. He was brought to the emergency room with poor feeding due to fever. On the third day of hospitalization, a narrow QRS tachycardia (180-200 beats/min) was detected.

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan.

Left atrium thrombus in an extremely low-birthweight infant with late-onset circulatory dysfunction.

A left atrium thrombus, potentially a life-threatening complication, is an extremely rare in early infancy. Most cases are caused by mal-placement of central venous catheters or related to congenital heart diseases with left atrial blood congestion. Here we present an extremely low birth weight infant who developed a left atrial thrombus during the course of late onset circulatory dysfunction.

Commotio Cordis presenting as a temporary complete atrioventricular block in a 2-year-old girl with congenitally corrected transposition of the great arteries.

This report describes a 2-year-old girl with congenitally corrected transposition of the great arteries (ccTGA) who presented with transient complete atrioventricular (AV) block after a mild chest blow. Running around the house with her older sister, she fell to the floor. Her sister also fell and landed on her.

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

Patients with X-linked agammaglobulinemia (XLA) can present with sensorineural deafness. This can result from a gross deletion that not only involved the Bruton's tyrosine kinase (BTK) gene, but also TIMM8A, mutations in which underlie the Mohr-Tranebjærg syndrome (MTS). We analyzed the genomic break points observed in three XLA-MTS patients and compared these with deletions break points from XLA patients.

A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells.

Human colostrum contains many bioactive factors that must promote the development of intestinal mucosal immunity in infants. Especially, the presence of certain cytokines such as transforming growth factor (TGF)-beta or IL-10 has been of great interest for IgA production as a function of mucosal immune response. In the present study, we attempted to investigate whether unidentified factors inducing generation of IgA-producing cells from naive B cells might exist in colostrum.

Transcriptional regulatory defects in the first intron of Bruton's tyrosine kinase.

Background: X-linked agammaglobulinemia (XLA), characterized by the early onset of recurrent bacterial infections, profound hypogammaglobulinemia, and a markedly diminished number of peripheral B lymphocytes, is caused by mutations in the Bruton's tyrosine kinase (BTK) gene. The >600 unique mutations identified to date include single base pair substitutions, small insertions or deletions, and gross deletions. A few cases, however, have been found to have no mutations in the coding region even with reduced BTK mRNA or protein expression.

Three-dimensional computed tomographic findings of bilateral tracheal bronchus.

A newborn male was admitted with cyanosis and respiratory distress. Echocardiography showed a right heart isomerism associated with a single right ventricle, a double-outlet right ventricle, and pulmonary atresia. Chest X-ray demonstrated severe left upper lobe emphysema and a shift of the mediastinal structures to the right.

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.

Left ventricular noncompaction (LVNC) is a genetically heterogenous disorder. Mutations in the human cardiac sodium channel alpha-subunit gene (SCN5A) are involved in the pathophysiology of cardiac arrhythmias and cardiomyopathies. This study was performed to compare the frequency of SCN5A variants in LVNC patients with or without arrhythmias, and to investigate the relationship between variants and disease severity.

Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder.

Transient myeloproliferative disorder (TMD) is experienced by approximately 10% of neonates with Down syndrome (DS). Most TMD is asymptomatic and the patients undergo spontaneous remission within a few months. However, some cases are fatal because of systemic organ dysfunctions including hepatic fibrosis.