Fatal positional asphyxia associated with rollover crashes.

Motor vehicle rollover crashes result in complex occupant kinematics with the potential for severe injury. Five cases of fatal asphyxia in occupants suspended from their safety belt upside down after a rollover crash are presented. These fatalities accounted for 13.

Delayed death in sudden infant death syndrome: a San Diego SIDS/SUDC Research Project 15-year population-based report.

A fraction of SIDS cases have death delayed by successful CPR, yet they have not been compared to SIDS cases which were found dead or not successfully resuscitated. Our aims were to: (1) determine the percent of SIDS cases in the San Diego SIDS Research Project database for whom death was delayed by CPR and subsequent life support; (2) compare demographics, circumstances of death and autopsy findings of delayed death SIDS cases (delayed SIDS) with those whose deaths were not delayed (non-delayed SIDS); (3) examine the evolution of pathologic changes in delayed SIDS as a function of survival interval. A retrospective 15-year population-based study of 454 infant deaths attributed to SIDS revealed 29 delayed SIDS cases (Group I) and 425 non-delayed SIDS cases (Group II).

Unclassified sudden infant death associated with pulmonary intra-alveolar hemosiderosis and hemorrhage.

The significance of severe pulmonary intra-alveolar hemosiderosis in sudden infant death is controversial in forensic pathology. We report a previously healthy 9-month-old female infant who died suddenly and unexpectedly after being placed and then found prone in her crib. Her gestation and delivery were uncomplicated, and she had no history of anemia, hemoptysis, chest trauma, or chronic lung disease.

Hemoglobin F in sudden infant death syndrome: a San Diego SIDS/SUDC Research Project report.

Whether levels of fetal hemoglobin (HbF), a possible marker of antecedent hypoxemia, are increased in sudden infant death syndrome (SIDS) compared to controls is unresolved. Our aims are to: (1) Compare percent fetal hemoglobin (%HbF) levels in SIDS and control cases, and (2) compare our findings with those reported in previous studies. Using Triton-acid-urea gel electrophoresis and quantitative densitometry, %HbF was determined in whole blood specimens obtained at autopsy from SIDS and control cases accessioned into the San Diego SIDS/SUDC Research Project database.

Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism.

Objectives: Focal lesions in infants with congenital hyperinsulinism (HI) represent areas of adenomatosis that express a paternally derived ATP-sensitive potassium channel mutation due to embryonic loss of heterozygosity for the maternal 11p region. This study evaluated the accuracy of 18F-fluoro-l-dihydroxyphenylalanine ([18F]DOPA) positron emission tomography (PET) scans in diagnosing focal vs. diffuse disease and identifying the location of focal lesions.

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

Type 1 diabetes (T1D) in children results from autoimmune destruction of pancreatic beta cells, leading to insufficient production of insulin. A number of genetic determinants of T1D have already been established through candidate gene studies, primarily within the major histocompatibility complex but also within other loci. To identify new genetic factors that increase the risk of T1D, we performed a genome-wide association study in a large paediatric cohort of European descent.

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.

Congenital hyperinsulinism (CHI) is a disease characterized by persistent insulin secretion despite severe hypoglycemia. Mutations in the pancreatic ATP-sensitive K(+) (K(ATP)) channel proteins sulfonylurea receptor 1 (SUR1) and Kir6.2, encoded by ABCC8 and KCNJ11, respectively, is the most common cause of the disease.

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

Fanconi-Bickel syndrome (FBS) is a rare disorder of glucose transport caused by autosomal recessive mutations in GLUT2. Clinically, FBS results in growth failure, hepatomegaly, renal Fanconi syndrome, and abnormal glucose homeostasis. We report a 23 month old female with FBS characterized by more severe and refractory hypoglycemia than typically seen in this disorder.

LiNaSiB3O7(OH)--novel structure of the new borosilicate mineral jadarite determined from laboratory powder diffraction data.

The structure of a new mineral jadarite, LiNaSiB(3)O(7)(OH) (IMA mineral 2006-36), has been determined by simulated annealing and Rietveld refinement of laboratory X-ray powder diffraction data. The structure contains a layer of corner-sharing, tetrahedrally coordinated Li, Si and B forming an unbranched vierer single layer, which is decorated with triangular BO(3) groups. The Na ion is situated between the tetrahedral layers in a distorted octahedral site.

Emergency department follow-up of bereaved relatives: an audit of one particular service.

Background: Although much has been written about the treatment of bereaved relatives in emergency departments, very little has been published about their follow-up after they have left the department.

Methods: One model of follow-up is described, in which relatives are invited to a meeting in the department 4-6 weeks after their loss. In this model, it is emphasised that the follow-up is not a counselling session but an opportunity to ask questions, and an audit of the service is presented.

A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).

Objective: We sought to examine the molecular mechanisms underlying permanenent neonatal diabetes mellitus (PNDM) in a patient with a heterozygous de novo L225P mutation in the L0 region of the sulfonylurea receptor (SUR)1, the regulatory subunit of the pancreatic ATP-sensitive K(+) channel (K(ATP) channel).

Research Design And Methods: The effects of L225P on the properties of recombinant K(ATP) channels in transfected COS cells were assessed by patch-clamp experiments on excised membrane patches and by macroscopic Rb-flux experiments in intact cells.

Results: L225P-containing K(ATP) channels were significantly more active in the intact cell than in wild-type channels.

Aspiration of gastric contents in sudden infant death syndrome without cardiopulmonary resuscitation.

Objectives: (1) To compare demographic profiles among sudden infant death syndrome (SIDS) infants with or without gastric aspiration, for whom cardiopulmonary resuscitation (CPR) had not been attempted; (2) to review the severity and potential significance of aspiration in those SIDS cases; and (3) to assess the risk of supine sleep position with regard to gastric aspiration.

Study Design: Retrospective review of records and microscopic slides for all postneonatal SIDS cases (29 to 365 days of age) accessioned by the San Diego County Medical Examiner from 1991 to 2004.

Results: Ten (14%) of 69 cases of SIDS infants who had not undergone CPR before autopsy revealed microscopic evidence of gastric aspiration into the distal lung; this group was not otherwise clinically or pathologically different from cases of SIDS infants without aspiration.

Caring for a child with Juvenile Huntington's Disease: helpful and unhelpful support.

There has been little research into the psychosocial impact of Juvenile Huntington's Disease on the child and family. This study investigates the social and health care needs of those affected by Juvenile Huntington's Disease. Ten semi-structured interviews with carers were analysed using the qualitative methodology interpretative phenomenological analysis.

Production of photocurrent due to intermediate-to-conduction-band transitions: a demonstration of a key operating principle of the intermediate-band solar cell.

We present intermediate-band solar cells manufactured using quantum dot technology that show for the first time the production of photocurrent when two sub-band-gap energy photons are absorbed simultaneously. One photon produces an optical transition from the intermediate-band to the conduction band while the second pumps an electron from the valence band to the intermediate-band. The detection of this two-photon absorption process is essential to verify the principles of operation of the intermediate-band solar cell.

A web-based breastfeeding education program.

Two Web-based breastfeeding programs were developed to provide new parents with necessary information on proper breastfeeding techniques. One version was plain text and the other version combined text with graphics. The computer was viewed as a valuable learning tool.

Hypoglycemia in the neonate.

Hypoglycemic episodes occurring during the newborn period are often due to transient immaturity of glucoregulatory pathways. Normal feeding is generally the only measure required to treat such episodes. After the first few hours of life, however, hyperinsulinism (HI) is the most common cause of neonatal hypoglycemia.

Pulmonary intra-alveolar hemorrhage in SIDS and suffocation.

The differentiation of SIDS from accidental or inflicted suffocation may be impossible in some cases. Severe pulmonary intra-alveolar hemorrhage has been suggested as a potential marker for such differentiation. Our aims are to: (1) Compare pulmonary hemorrhage in SIDS and a control group comprised of infants whose deaths were attributed to accidental or inflicted suffocation.

Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan.

Objectives: To assess the accuracy of 18F-fluoro-L-dihydroxyphenylalanine ([18F]-DOPA) PET scans to diagnose focal versus diffuse disease and to localize focal lesions in infants with congenital hyperinsulinism.

Study Design: Twenty-four infants with hyperinsulinism unresponsive to medical therapy were studied. Patients were injected intravenously with [18F]-DOPA, and PET scans were obtained for 1 hour.

A comparison of pulmonary intra-alveolar hemorrhage in cases of sudden infant death due to SIDS in a safe sleep environment or to suffocation.

The differentiation of SIDS from accidental or inflicted suffocation may be impossible without corroborating findings from the death scene or autopsy or in the absence of a confession from a perpetrator. Pulmonary intra-alveolar hemorrhage (PH) has been proposed as a potential clue to suffocation, but none of the previous studies on this topic have limited SIDS cases to those who were in a safe sleep environment, in which all were found supine and alone on a firm surface with their heads uncovered. Our aims are to: (1) compare PH in SIDS cases found in a safe sleep environment to a control group comprised of infants whose deaths were attributed to accidental or inflicted suffocation and (2) assess the effect of age, CPR, and postmortem interval (PMI), with regard to the severity of PH in this subset of safe-sleeping SIDS cases.

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities.

Deaths associated with choking in San Diego county.

Death from choking is the fourth most common cause of unintentional-injury mortality, but little data are published on causes or locations of these episodes. These deaths typically are peaked at the extremes of age, with young children and the elderly having the greatest rate of fatal choking. Our objective was to characterize the causes of fatal airway obstruction in adults.

Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism.

Congenital hyperinsulinism (HI) exists in 2 histologic forms, focal and diffuse, and rarely has been attributed to lesions in ectopic pancreatic tissue. The ability to distinguish focal from diffuse HI and locate focal lesions has been difficult, thus limiting the optimal management of HI. We present a case of HI resulting from focal pancreatic and ectopic pancreatic lesions.

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates.

Hyperinsulinism is the single most common mechanism of hypoglycemia in neonates. Dysregulated insulin secretion is responsible for the transient and prolonged forms of neonatal hypoglycemia, and congenital genetic disorders of insulin regulation represent the most common of the permanent disorders of hypoglycemia. Mutations in at least five genes have been associated with congenital hyperinsulinism: they encode glucokinase, glutamate dehydrogenase, the mitochondrial enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase, and the two components (sulfonylurea receptor 1 and potassium inward rectifying channel, subfamily J, member 11) of the ATP-sensitive potassium channels (K(ATP) channels).

The influence of previous exposure to environmental mycobacteria on the interferon-gamma response to bacille Calmette-Guérin vaccination in southern England and northern Malawi.

We report a large study of the effect of BCG vaccination on the in vitro 6-day whole blood interferon-gamma (IFN-gamma) response to antigens from eight species of mycobacteria among schoolchildren in south-eastern England, where bacille Calmette-Guérin (BCG) vaccination is highly protective against pulmonary tuberculosis, and among young adults in northern Malawi, where BCG vaccination is not protective. In the UK children, BCG induced an appreciable increase in IFN-gamma response to antigens from most species of mycobacteria. The degree of change was linked to the relatedness of the species to Mycobacterium bovis BCG, and provides further evidence of the cross-reactivity of mycobacterial species in priming of the immune system.