Ultrasonographic images of spina bifida before obstetric anesthesia: a case series.

BACKGROUND: Spina bifida is a relatively common congenital malformation. As the functional prognosis of patients with spina bifida has improved over time, the number of cases resulting in pregnancy and delivery has increased. Lumbar ultrasonography has become a standard and helpful technique before neuraxial anesthesia. We believe that it might be valuable if we use lumbar ultrasonography to evaluate pregnant women with spina bifida before obstetric anesthesia. CASE PRESENTATION: We performed lumbar ultrasonography to evaluate four pregnant women with spina bifida. Patient 1 had no history of surgery. Lumbar radiography before pregnancy showed a bone defect from L5 to the sacrum as a result of incomplete fusion. Magnetic resonance imaging showed a spinal lipoma and a bone defect of the sacrum. Lumbar ultrasonography showed similar findings. We performed general anesthesia for emergency cesarean delivery. Patient 2 underwent surgical repair immediately after birth. Lumbar ultrasonography showed the same bone defect as well as a lipoma beyond the bone defect. We performed general anesthesia for cesarean delivery. Patient 3 had vesicorectal disorders but no prior surgery. Lumbar radiography before pregnancy showed congenital abnormalities such as incomplete fusion, scoliosis, rotation, and a notably small sacrum. Lumbar ultrasonography showed the same bone defect. We performed general anesthesia for cesarean section with no complications. Patient 4 complained of lumbago a few years after her first delivery and received a diagnosis of spina bifida occulta by lumbar radiography, with the incomplete fusion of only the 5th vertebra. Lumbar ultrasonography indicated the same abnormalities. We placed an epidural catheter to avoid the bone abnormality and achieved epidural labor analgesia with no complications. CONCLUSIONS: Lumbar ultrasonography shows anatomic structures easily, safely, and consistently, without X-ray exposure or the need for more expensive modalities. It is a helpful technique to explore anatomic structures potentially complicated by spina bifida before anesthetic procedures.

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.

Cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) is early onset neuromotor disorder and intellectual disabilities caused by variants of ATP8A2. We report sibling cases and systematically analyze previous literature to increase our understanding of CAMRQ4. Japanese siblings presented with athetotic movements at 1 and 2 months of age. They also had ptosis, ophthalmoplegia, feeding difficulty, hypotonia, and severely delayed development. One patient had retinal degeneration and optic atrophy. Flattening of the auditory brainstem responses and areflexia developed. At the last follow-up, neither patient could sit or achieve head control, although some nonverbal communication was preserved. Whole exome sequencing revealed compound heterozygous variants of ATP8A2: NM_016529.6:c.[1741C>T];[2158C>T] p.[(Arg581*)];[(Arg720*)]. The p.(Arg581*) variant has been reported, while the variant p.(Arg720*) was novel. The symptoms did not progress in the early period of development, which makes it difficult to distinguish from dyskinetic cerebral palsy, particularly in solitary cases. However, visual and hearing impairments associated with involuntary movements and severe developmental delay may be a clue to suspect CAMRQ4.

Changes in height standard deviation scores during early life are affected by nutrition.

BACKGROUND: Large changes in height standard deviation score (SDS) have been reported from birth to 3 years of age. We analyzed how early these changes start and whether they are affected by nutrition. METHODS: The longitudinal growth of 1,849 children born between March 1 2007 and August 31 2007 or between March 1, 2009 and August 31 2009 with five records from birth to 3 years of age was analyzed. RESULTS: The height SDS at birth was positively correlated with body mass index (BMI) SDS at birth (r = 0.224, P < 0.0001). The height SDS at birth decreased among children with a positive height SDS and increased among children with a negative height SDS. The changes occurred immediately after birth and became more modest as children aged. Regarding the change in the height SDS from birth to 3 years of age, 33.4% of children increased more than 0.5 SDs, 39.8% of children decreased more than 0.5 SDs, and 34.4% of children remained within ±0.5 SDs. The change in height SDS displayed a strong positive correlation with the change in weight during the four periods. From birth till 3 months, from 3 months till 6 months, from 6 months till 1.5 years, and from 1.5 years till 3 years. CONCLUSIONS: The significant positive correlation between height SDS and BMI SDS suggests an effect of children's nutrition status in utero. The height SDS change started immediately after birth and the change was largest from birth to 3 months. A positive correlation between changes in height SDS and weight suggest that growth during early childhood depends on nutritional status.

Convection-Induced Biased Distribution of Actin Probes in Live Cells.

Fluorescent markers that bind endogenous target proteins are frequently employed for quantitative live-cell imaging. To visualize the actin cytoskeleton in live cells, several actin-binding probes have been widely used. Among them, Lifeact is the most popular probe with ideal properties, including fast exchangeable binding kinetics. Because of its fast kinetics, Lifeact is generally believed to distribute evenly throughout cellular actin structures. In this study, however, we demonstrate misdistribution of Lifeact toward the rear of lamellipodia where actin filaments continuously move inward along the retrograde flow. Similarly, phalloidin showed biased misdistribution toward the rear of lamellipodia in live cells. We show evidence of convection-induced misdistribution of actin probes by both experimental data and physical models. Our findings warn about the potential error arising from the use of target-binding probes in quantitative live imaging.

Impact of the Great East Japan Earthquake on Body Mass Index, Weight, and Height of Infants and Toddlers: An Infant Survey.

BACKGROUND: The body mass index (BMI) of preschool children from 4 years of age through primary school has increased since the Great East Japan Earthquake, but that of children aged under 3 years has not been studied. This study evaluated how the anthropometrics of younger children changed following the earthquake. METHODS: Height and weight data of children living in northeast Japan were collected from 3-, 6-, 18-, and 42-month child health examinations. We compared the changes in BMI, weight, and height among infants affected by the earthquake between their 3- and 6-month health examinations, toddlers affected at 21-30 months of age (affected groups), and children who experienced the earthquake after their 42-month child health examination (unaffected group). A multilevel model was used to calculate the BMI at corresponding ages and to adjust for the actual age at the 3-month health examination, health examination interval, and gestational age. RESULTS: We recruited 8,479 boys and 8,218 girls living in Fukushima, Miyagi, and Iwate Prefectures. In the infants affected between their 3- and 6-month health examinations in Fukushima, the change in BMI at 42 months of age was greater than among the unaffected children. In the toddlers affected at 21-30 months of age in Fukushima, the change in BMI was greater, but changes in weight and height were less. CONCLUSIONS: Affected infants and toddlers in Fukushima suggested some growth disturbances and early adiposity rebound, which can cause obesity. The future growth of children affected by disasters should be followed carefully.

Design of the health examination survey on early childhood physical growth in the Great East Japan Earthquake affected areas.

BACKGROUND: To investigate the impact of the Great East Japan Earthquake on preschool children's physical growth in the disaster-affected areas, the three medical universities in Iwate, Miyagi, and Fukushima Prefectures conducted a health examination survey on early childhood physical growth. METHODS: The survey was conducted over a 3-year period to acquire data on children who were born in different years. Our targets were as follows: 1) children who were born between March 1, 2007 and August 31, 2007 and experienced the disaster at 43-48 months of age, 2) children who were born between March 1, 2009 and August 31, 2009 and experienced the disaster at 19-24 months of age, and 3) children who were born between June 1, 2010 and April 30, 2011 and were under 10 months of age or not born yet when the disaster occurred. We collected their health examination data from local governments in Iwate, Miyagi, and Fukushima Prefectures. We also collected data from Aomori, Akita, and Yamagata Prefectures to use as a control group. The survey items included birth information, anthropometric measurements, and methods of nutrition during infancy. RESULTS: Eighty municipalities from Iwate, Miyagi, and Fukushima Prefectures and 21 from the control prefectures participated in the survey. As a result, we established three retrospective cohorts consisting of 13,886, 15,474, and 32,202 preschool children. CONCLUSIONS: The large datasets acquired for the present survey will provide valuable epidemiological evidence that should shed light on preschool children's physical growth in relation to the disaster.

Alterations in physique among young children after the Great East Japan Earthquake: Results from a nationwide survey.

BACKGROUND: Data for earthquake-related alterations in physique among young children in developed countries is lacking. The Great East Japan Earthquake caused severe damage in Iwate, Miyagi, and Fukushima Prefectures in northeastern Japan. METHODS: We retrospectively obtained anthropometric measurements in nursery school from 40,046 (cohort 1, historical control) and 53,492 (cohort 2) children aged 3.5-4.5 years without overweight in October 2008, and in October 2010, respectively. At the time of the earthquake in March, 2011, children in cohort 1 had already graduated from nursery school; however, children in cohort 2 were still enrolled in nursery school at this time. We compared the onset of overweight at 1 year after the baseline between children enrolled in their school located in one of the three target prefectures versus those in other prefectures using a logistic regression model, with adjustment for sex, age, history of disease, and obesity index at baseline. Overweight was defined as an obesity index of >+15%, which was calculated as (weight minus sex- and height-specific standard weight)/sex- and height-specific standard weight. RESULTS: The odds ratio (OR) for the onset of overweight in the three target prefectures was significant in cohort 2 (OR 1.25; 95% confidence interval [CI], 1.01-1.55) but not in cohort 1. When the two cohort were pooled (n = 93,538), the OR of the interaction term for school location × cohort was significant (OR 1.56; 95% CI, 1.09-2.23). CONCLUSIONS: Incident overweight in young children was significantly more common in the three prefectures affected by the Great East Japan Earthquake than in other prefectures after the disaster.

Prolonged elevated body mass index in preschool children after the Great East Japan Earthquake.

BACKGROUND: The Great East Japan Earthquake followed by tsunamis and the Fukushima Daiichi Nuclear Power Plant (NPP) accident caused catastrophic damage. The effects of the disaster on the growth of affected children are of great concern but remain unknown. METHODS: The subject group was derived from two Japanese nationwide retrospective cohorts (historical control and exposure groups, respectively). The exposure group experienced the disaster at 47-59 months of age. We analyzed longitudinal changes in standard deviation score (SDS) for height and body mass index (BMI) using normal Japanese children's standards. Moreover, we analyzed the details of the affected children in Fukushima using Fukushima-specific growth charts established with the historical control data to clarify any indirect effect of the disaster on growth. RESULTS: Affected children in Fukushima had significantly higher BMI SDS than the historical control group (difference, 0.13; 95% CI: 0.044-0.21, P = 0.0029) and the regional controls (difference, 0.14; 95% CI: 0.074-0.20, P < 0.0001) 1.5 years after the disaster. Similar sustained increases in BMI SDS were also found with Fukushima-specific growth charts, but the phenomenon was detected only in boys. Notably, the BMI SDS of affected children who lived near the NPP had been increasing after the disaster, whereas those in distant areas had not changed. In contrast, height SDS had not changed throughout the analysis. CONCLUSIONS: Prolonged elevated BMI SDS was detected only in affected children in Fukushima. This phenomenon may be explained by an indirect effect of the NPP accident.

Design of the Nationwide Nursery School Survey on Child Health Throughout the Great East Japan Earthquake.

BACKGROUND: The Great East Japan Earthquake inflicted severe damage on the Pacific coastal areas of northeast Japan. Although possible health impacts on aged or handicapped populations have been highlighted, little is known about how the serious disaster affected preschool children's health. We conducted a nationwide nursery school survey to investigate preschool children's physical development and health status throughout the disaster. METHODS: The survey was conducted from September to December 2012. We mailed three kinds of questionnaires to nursery schools in all 47 prefectures in Japan. Questionnaire "A" addressed nursery school information, and questionnaires "B1" and "B2" addressed individuals' data. Our targets were children who were born from April 2, 2004, to April 1, 2005 (those who did not experience the disaster during their preschool days) and children who were born from April 2, 2006, to April 1, 2007 (those who experienced the disaster during their preschool days). The questionnaire inquired about disaster experiences, anthropometric measurements, and presence of diseases. RESULTS: In total, 3624 nursery schools from all 47 prefectures participated in the survey. We established two nationwide retrospective cohorts of preschool children; 53,747 children who were born from April 2, 2004, to April 1, 2005, and 69,004 children who were born from April 2, 2006, to April 1, 2007. Among the latter cohort, 1003 were reported to have specific personal experiences with the disaster. CONCLUSIONS: With the large dataset, we expect to yield comprehensive study results about preschool children's physical development and health status throughout the disaster.

Carbon-double-bond-free printed solar cells from TiO2/CH3NH3PbI3/CuSCN/Au: structural control and photoaging effects.

Carbon double bond-free printed solar cells have been fabricated with the structure and , in which CuSCN acts as a hole conductor. The thickness of the CH3NH3PbI3 layer is controlled by a hot air flow during spin coating. The best conversion efficiency (4.86%) is obtained with . However, a thick CH3NH3PbI3 layer on CuSCN is better for light-exposure stability (100 mW cm(-2) AM 1.5) when not encapsulated. Without the CuSCN coverage, the black CH3NH3PbI3 crystal changes to yellow during the light-exposure stability test, which is due to the transformation of the CH3NH3PbI3 perovskite crystal into hexagonal PbI2.

Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.

Periventricular nodular heterotopia (PNH) with overlying polymicrogyria (PMG) is a recently described, developmental brain malformation; however, the causative genes of this malformation have not yet been identified. We report on a 5-year-old Japanese male with bilateral PNH with overlying PMG. He had mild intellectual disability, distinctive facial features, short stature, and microcephaly, with cardiac disorders. No mutation was identified in Sanger sequences for FLNA and ARFGEF2; however, array comparative genomic hybridization revealed an approximately 0.8Mb gain at Xq26.1-26.2, which included three genes: IGSF1, OR13H1, and FIRRE. We identified the same 3-copy gain in his mother; despite identifying the same abnormality in the mother, it must still be considered as a possible cause for the abnormalities, as X-inactivation in the mother could have led to her not expressing the same phenotype. This case may provide important clues for identifying the genes responsible and help in the understanding of the pathogenesis of this disorder.

Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.

AIM: To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients born at term with spastic diplegia. METHOD: Eighty-six patients born at term with cerebral palsy (CP) and spastic diplegia (54 males, 32 females; median age 20 y, range 7-42 y) among 829 patients with CP underwent brain MRI between 1990 and 2008. The MRI and clinical findings were analysed retrospectively. Intellectual disability was classified according to the Enjoji developmental test or the Wechsler Intelligence Scale for Children (3rd edition). RESULTS: The median ages at diagnosis of CP, assignment of Gross Motor Function Classification System (GMFCS) level, cognitive assessment, and MRI were 2 years (range 5 mo-8 y), 6 years (2 y 8 mo-19 y), 6 years (1 y 4 mo-19 y), and 7 years (10 mo-30 y) respectively. MRI included normal findings (41.9%), periventricular leukomalacia, hypomyelination, and porencephaly/periventricular venous infarction. The frequency of patients in GMFCS levels III to V and intellectual disability did not differ between those with normal and abnormal MRI findings. Patients with normal MRI findings had significantly fewer epileptic episodes than those with abnormal ones (p=0.001). INTERPRETATION: Varied MRI findings, as well as the presence of severe motor dysfunction and intellectual disability (despite normal MRI), suggest that patients born at term with spastic diplegia had heterogeneous and unidentified pathophysiology.

Adrenocorticotropic hormone-secreting pancreatic neuroendocrine carcinoma with multiple organ infections and widespread thrombosis: A case report.

BACKGROUND: Ectopic adrenocorticotropic hormone (ACTH)-secreting neuroendocrine tumors are rare diseases. Patients with ACTH-secreting pancreatic neuroendocrine carcinomas have a poor prognosis. Infections and coagulopathies have been reported as the cause of death. However, detailed clinical descriptions of the morbid complications of ACTH-secreting neuroendocrine carcinomas have not been reported. CASE SUMMARY: A 78-year-old Japanese woman consulted a medical center due to systemic edema and epigastric discomfort. Laboratory analysis revealed hypercortisolemia with increased ACTH secretion without diurnal variation in serum cortisol level. An enhanced computed tomography (CT) scan revealed a 3-cm tumor in the pancreatic head. The cytological material from endoscopic ultrasound-guided fine-needle aspiration was compatible with ACTH-secreting pancreatic neuroendocrine carcinoma. The Ki-67 index was 40%. She was transferred to Mie University Hospital for surgical treatment. The patient was diagnosed with urinary tract infection, cytomegalovirus hepatitis, esophageal candidiasis, pulmonary infiltrates suspicious for Pneumocystis carinii pneumonia, peripheral deep vein thrombosis, pulmonary embolism, and disseminated intravascular coagulation. The multiple organ infections and thromboses responded well to antimicrobial and anticoagulant therapy. Radioisotope studies disclosed a pancreatic tumor and a metastatic lesion in the liver, whereas somatostatin receptor scintigraphy showed negative findings, suggesting the primary and metastatic tumors were poorly differentiated. A CT scan before admission showed no metastatic liver lesion, suggesting that the pancreatic tumor was rapidly progressing. Instead of surgery, antitumor chemotherapy was indicated. The patient was transferred to another hospital to initiate chemotherapy. However, she died four months later due to the rapidly progressive tumor. CONCLUSION: ACTH-secreting pancreatic neuroendocrine neoplasm is a rare disease with a very poor prognosis. The clinical course and acute complications of the tumor remain unreported. Here we report the clinical course of a rapidly progressive case of ACTH-secreting pancreatic neuroendocrine tumor that developed infectious complications due to many types of pathogens in multiple organs, widespread thromboses, pulmonary embolism, and disseminated intravascular coagulation.

Sudden Death Associated with Severe Hypoglycemia in a Diabetic Patient During Sensor-Augmented Pump Therapy with the Predictive Low Glucose Management System.

BACKGROUND Hypoglycemia is a frequent complication observed in diabetic patients under treatment. This metabolic complication is associated with an increased mortality rate in diabetic patients. The use of sensor-augmented pump therapy with predictive low glucose management systems has improved blood glucose level control and reduced the incidence of hypoglycemic attacks. However, this therapy may be associated with adverse events. CASE REPORT A 65-year-old Japanese woman with type 1 diabetes mellitus underwent hemodialysis with end-stage renal failure due to diabetic nephropathy. The patient received sensor-augmented pump therapy with the predictive low glucose management system to prevent recurrent severe hypoglycemia. Hypoglycemia was infrequent when the sensor-augmented pump therapy with a predictive low-glucose management system was properly working. However, the patient suddenly died 3 months after starting the treatment. A record of continuous glucose monitoring showed that hypoglycemia occurred before the sudden death of the patient. CONCLUSIONS The current case shows that sudden death associated with severe hypoglycemia may also occur during sensor-augmented pump therapy with a predictive low glucose management system. This case report underscores the need for close follow-up of diabetic patients receiving sensor-augmented pump therapy with the predictive low glucose management system and the critical importance of patient education on diabetes technology in high-risk patients.

Sodium-glucose co-transporter-2 inhibitor-associated euglycemic diabetic ketoacidosis that prompted the diagnosis of fulminant type-1 diabetes: A case report.

BACKGROUND: Fulminant type 1 diabetes mellitus (FT1DM) is a subtype of type 1 diabetes mellitus characterized by an abrupt onset and a rapid and complete functional loss of islet ß cells. It is a very rare disease generally associated with ketoacidosis and the absence of circulating pancreatic islet-related autoantibodies. Diabetic ketoacidosis with normal blood glucose levels has been reported during sodium-glucose co-transporter 2 (SGLT2) inhibitor therapy. CASE SUMMARY: The patient was a 43-year-old woman that consulted a medical practitioner for malaise, thirst, and vomiting. Blood analysis showed high blood glucose levels (428 mg/dL), a mild increase of hemoglobin A1c (6.6%), and increased ketone bodies in urine. The patient was diagnosed with type 2 diabetes mellitus. The patient was initially treated with insulin, which was subsequently changed to an oral SGLT2 inhibitor. Antibodies to glutamic acid decarboxylase were negative. Four days after receiving oral SGLT2 inhibitor, she consulted at Mie University Hospital, complaining of fatigue and vomiting. Laboratory analysis revealed diabetic ketoacidosis with almost normal blood glucose levels. The endogenous insulin secretion was markedly low, and the serum levels of islet-related autoantibodies were undetectable. We made the diagnosis of FT1DM with concurrent SGLT2 inhibitor-associated euglycemic diabetic ketoacidosis. The patient's general condition improved after therapy with intravenous insulin and withdrawal of oral medication. She was discharged on day 14 with an indication of multiple daily insulin therapy. CONCLUSION: This patient is a rare case of FT1DM that developed SGLT2 inhibitor-associated diabetic ketoacidosis with almost normal blood glucose levels. This case report underscores the importance of considering the diagnosis of FT1DM in patients with negative circulating autoantibodies and a history of hyperglycemia that subsequently develop euglycemic diabetic ketoacidosis following treatment with a SGLT2 inhibitor.

Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study.

We, for the first time, used functional neuroimaging analyses for a girl with early myoclonic encephalopathy (EME). The interictal single photon emission computed tomography (SPECT) and [18F]-fluoro-D-deoxyglucose positron emission tomography (FDG-PET) at 1 month of age showed hypoperfusion and hypometabolism of bilateral basal ganglia, thalami, and the right parietooccipital cerebral cortices, showing that there is profound dysfunction of the basal ganglia and thalamus as well as cerebral cortex. On the other hand, subtraction ictal SPECT of tonic spasms clearly showed hyperperfusion of the bilateral basal ganglia, thalami, brainstem, and deep cortical layer of bilateral frontoparietal cortices. The present study suggests that functional deafferentation of the cortex from subcortical structures exists in EME, and that these imaging abnormalities may provide insight into the pathophysiology of suppression-burst pattern in EME.

[Needs for out-of-reimbursable use of enteral nutrition pump in pediatric care fields].

In Japan, a home use of enteral nutrition pump(EN pump)is reimbursed by the government insurance only in case of cure with the elemental diet(ED). The supply of ED via EN pump is useful for Crohn's disease. On the other hand, many pediatricians doubt about long-term supply of such ED to children and/or infants who are on the way to grow. Because ED products are artificial as well as obviously not perfect, e. g., lack of essential fatty acids, trace elements and so on. This is to report the results of questionnaire survey carried out among pediatricians who are focusing on necessities of supply anti ED products via EN pumps.

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study.

Respiratory failure can be the direct cause of death in patients with Leigh syndrome. Unfortunately, no effective treatment strategy is available. Here, we report successful treatment of a patient with Leigh syndrome using idebenone, a derivative of coenzyme Q-10. The patient's brainstem function, especially respiratory function, improved after idebenone treatment. Idebenone may be worth trying in patients with Leigh syndrome.