Impact of visitation restrictions in neonatal intensive care units during the COVID-19 pandemic on parents in northern Hokkaido, Japan.

Aim: Medical institutions restricted visitation to neonatal intensive care units (NICUs) during the coronavirus disease (COVID-19) pandemic. Therefore, this study aimed to investigate the impact of COVID-19 NICU visitor restrictions on parents.

Methods: We conducted a questionnaire of 378 parents of infants who were hospitalised for more than 1 week at two NICUs in our area and discharged between 1 April 2020 and 31 March 2022.

A novel HECW2 variant in an infant with congenital long QT syndrome.

Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.

Reticulocyte hemoglobin content changes after treatment of anemia of prematurity.

Background: Iron deficiency during infancy is associated with poor neurological development, but iron overload causes severe complications. Appropriate iron supplementation is therefore vital. Reticulocyte hemoglobin content (RET-He) provides a real-time assessment of iron status and chracterezes hemoglobin synthesis in preterm infants.

Anatomical variations of the superficial branch of the radial nerve and the dorsal branch of the ulnar nerve: A detailed electrophysiological study.

Introduction: In this study we evaluated anatomic variations of the superficial branch of the radial nerve (SBRN) and the dorsal branch of the ulnar nerve (DBUN) electrophysiologically.

Methods: Antidromic nerve conduction studies (NCS) of the SBRN and DBUN were performed on healthy individuals. To identify individual responses from the distal branches of the SBRN and DBUN, sensory nerve action potentials of each finger (lateral side/medial side) were recorded.

Two patients of trisomy 21 with transient abnormal myelopoiesis with hypereosinophilia without blasts in peripheral blood smears.

Clinical diagnosis of transient abnormal myelopoiesis (TAM) relies on the detection of characteristic blasts and leukocytosis in peripheral blood. We report two patients of trisomy 21 with TAM with hypereosinophilia, who had neither circulating blasts nor leukocytosis. Genetic testing of polymorphonuclear leukocytes isolated from whole blood revealed heterozygous mutations in , suggesting that the mutations were harbored in increased eosinophils.

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.

Relationship between the Diabetic Polyneuropathy Index and the Neurological Findings of Diabetic Polyneuropathy.

Objective To achieve an accurate quantification in diabetic polyneuropathy (DPN), we developed a new electrophysiological index that we called the DPN index. The relationship between the DPN index and the neurological findings in diabetic patients was assessed. Methods The DPN index was calculated by the mean value of percentages of four parameters (tibial compound muscle action potential amplitude / F wave minimum latency, sural sensory nerve action potential amplitude / sensory nerve conduction velocity) against the mean normal values.

Influence of placement sites of the active recording electrode on CMAP configuration in the trapezius muscle.

Objective: We investigated how the active electrode placement site influences compound muscle action potential (CMAP) configuration of the upper trapezius muscle (TM).

Methods: A nerve conduction study of the accessory nerve was performed, and the CMAPs obtained with two different placement sites, i.e.

Congenital basal meningoceles with different outcomes: a case series.

Background: Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis.

Case Presentation: We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl.

A new technique for dorsal sural nerve conduction study with surface strip electrodes.

Objective: To obtain higher amplitude of dorsal sural sensory nerve action potentials (SNAPs), we used a new method for dorsal sural nerve conduction study with surface strip electrodes (SSEs).

Methods: Dorsal sural SNAPs were recorded orthodromically. The recording electrodes were placed behind the lateral malleolus.

Variations in the distal branches of the superficial fibular sensory nerve.

Introduction: We evaluated anatomic variations of distal branches of the superficial fibular sensory nerve electrophysiologically.

Methods: Orthodromic nerve conduction studies (NCS) of the first and third branches (M-I, M-III) of the medial dorsal cutaneous nerve and the fourth and fifth branches (I-IV, I-V) of the intermediate dorsal cutaneous nerve (IDCN) were performed. To find anomalous innervations from the dorsal sural nerve (DSN) in the IDCN territory, NCS of the fourth and fifth branches (S-IV, S-V) of the DSN were also performed.

Whole plantar nerve conduction study with disposable strip electrodes.

Introduction: A new method to evaluate whole plantar nerve conduction with disposable strip electrodes (DSEs) is described.

Methods: Whole plantar compound nerve action potentials (CNAPs) were recorded at the ankle. DSEs were attached to the sole for simultaneous stimulation of medial and lateral plantar nerves.

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.

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes.

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.

The temperature change in an endotracheal tube during high frequency ventilation using an artificial neonatal lung model with Babylog® 8000 plus.

Objective: There is little available data on airway humidity during high-frequency ventilation (HFV). The purpose of this study is to evaluate the temperature drop in an endotracheal tube (ETT) during HFV.

Methods: We examined the airway temperature in a neonatal HFV system using Babylog® 8000 plus.

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.

Evaluation of glycated hemoglobin and fetal hemoglobin-adjusted HbA1c measurements in infants.

Background: As the presence of fetal hemoglobin (HbF) affects the accuracy of hemoglobin A1c (HbA1c) analysis methods, HbA1c measurement may not be a good indicator for patients with neonatal diabetes mellitus, whereas glycated albumin (GA) may be a good indicator.

Objective: To investigate whether total glycated hemoglobin (GHb) or HbF-adjusted HbA1c (adj-HbA1c) can act as a glycemic control marker in infants.

Subjects And Methods: Plasma glucose (PG), GA, HbF, GHb measured using the affinity method, and HbA1c measured using the latex-immunoturbidimetry (LA) or the high-performance liquid chromatography (HPLC) methods were determined in 26 full-term newborn infants aged 4-234 d.

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.