Hypoplastic left heart syndrome with restrictive atrial septum and advanced heart block documented with a novel fetal electrocardiographic monitor.

Hypoplastic left ventricle with congenital heart block has been reported previously in a fetus with concurrent left atrial isomerism and levo-transposition of the great arteries. We present the unusual case of an infant diagnosed in utero with hypoplastic left heart syndrome, a restrictive atrial septum and advanced heart block but with D-looping of the ventricles and no atrial isomerism. In addition, fetal heart rhythm was documented with the assistance of a new fetal electrocardiographic monitor.

Toxic megacolon secondary to Clostridium difficile colitis. Case report.

The incidence and severity of Clostridium difficile colitis has markedly increased in recent years. The spectrum of Clostridium difficile infection ranges from asymptomatic colonization to fulminant colitis requiring immediate surgery. Medical therapy failure and the presence of toxic megacolon dictate urgent surgical treatment with unfortunate high mortality rates (35% to 57%). We broach herein a case of toxic megacolon secondary to colitis due to Clostridium difficile infection in which early diagnosis and prompt surgical treatment led to a successful outcome.

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

Complex I deficiency is a frequent cause of Leigh syndrome. We describe a non-consanguineous Ashkenazi-Sephardic Jewish patient with Leigh syndrome due to complex I deficiency. The clinical and neuroradiological presentation showed predominant brainstem involvement. Blue native polyacrylamide gel electrophoresis analysis revealed an impaired assembly of complex I. The patient was found to be compound heterozygous of two mutations in the NDUFS4 gene: p.Asp119His (a novel mutation) and p.Lys154fs (recently described in an Ashkenazi Jewish family). These findings support the suggestion that the p.Lys154fs mutation in NDUFS4 should be evaluated in Ashkenazi Jewish patients presenting with early onset Leigh syndrome even before enzymatic studies. Our results further demonstrated that NDUFS4 presents a hotspot of mutations in the genetic apparatus of oxidative phosphorylation and the correct assembly of the subunit it encodes is essential for completion of the assembly of complex I.

Late Cenozoic Underthrusting of the Continental Margin off Northernmost California.

The presence of magnetic anomaly 3, age 5 million years, beneath the continental slope off northernmost California, is evidence for underthrusting of the continental margin during the late Cenozoic. Folded and faulted strata near the base of the slope attest to deformation of the eastern edge of the turbidite sedimzents in the Gorda Basin; the deformation observed is exactly that expected from underthrusting. The relative motions of three crustal plates also suggest underthrusting, possibly with a major component of right-lateral slip.

Cracks and pores: a closer look.

Most pores and some cracks in several rocks, as directly viewed with a new technique, have a shape that suggests an origin early in the history of these rocks. Thus, behavior in the laboratory may be a reliable indication of behavior in the earth's crust, for electrical resistivity, permeability, or other properties that depend on microporosity.

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. Including the four novel families presented here, of which two represent de novo cases, the R1347Q mutation has now been identified in six families. A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy. R1347Q is the third most frequent mutation in hemiplegic migraine patients and should therefore be screened with priority for confirmation of clinical diagnosis. This study clearly demonstrates that the availability of multiple families better reflects the full clinical spectrum associated with FHM1 mutations.

A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.

Isolated mitochondrial myopathies (IMM) are either due to primary defects in mtDNA, in nuclear genes that control mtDNA abundance and structure such as thymidine kinase 2 (TK2), or due to CoQ deficiency. Defects in the TK2 gene have been found to be associated with mtDNA depletion attributed to a depleted mitochondrial dNTP pool in non-dividing cells. We report an unusual case of IMM, homozygous for the H90N mutation in the TK2 gene but unlike other cases with the same mutation, does not demonstrate mtDNA depletion. The patient's clinical course is relatively mild and a muscle biopsy showed ragged red muscle fibers with a mild decrease in complexes I and an increase in complexes IV and II activities. This report extends the phenotypic expression of TK2 defects and suggests that all patients who present with an IMM even with normal quantities of mtDNA should be screened for TK2 mutations.

Experimental evidence of an incomplete thermalization of the energy in an x-ray microcalorimeter with a TaAu absorber.

We have conducted an experimental test at our XACT facility using an x-ray microcalorimeter with TaAu absorber and neutron transmutation doped germanium thermal sensor. The test was aimed at measuring the percentage of energy effectively thermalized after absorption of x-ray photons in superconducting tantalum. Moreover, in general, possible formation of long living quasiparticles implies that by using a superconducting absorber, a fraction of the deposited energy could not be thermalized on the useful time scale of the thermal sensor. To investigate this scenario, we exploited an absorber made of gold, where no energy trapping is expected, with a small piece of superconducting tantalum attached on top. We obtained evidence that the thermalization of photons absorbed in tantalum is delayed by energy trapping from quasiparticles. We compare the experimental results with numerical simulations and derive a value for the intrinsic lifetime of quasiparticles.

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.

Dysferlin encoding gene (DYS) is mutated in the autosomal recessive disorders Miyoshi myopathy, Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and distal anterior compartment myopathy, causing dysferlin deficiency in muscle biopsy. Three ethnic clusters have previously been described in Dysferlinopathy: the Libyan Jewish population originating in the area of Tripoli, Italian and Spanish populations. We report another cluster of this muscular dystrophy in Israel among Jews of the Caucasus region. A genomic analysis of the dysferlin coding sequence performed in patients from this ethnic group, who demonstrated an absence of dysferlin expression in muscle biopsy, revealed a homozygous frameshift mutation of G deletion at codon 927 (2779delG) predicting a truncated protein and a complete loss of functional protein. The possible existence of a founder effect is strengthened by our finding of a 4% carrier frequency in this community. These findings are important for genetic counseling and also enable a molecular diagnosis of LGMD2B in Jews of the Caucasus region.

Violence by people discharged from acute psychiatric inpatient facilities and by others in the same neighborhoods.

BACKGROUND: The public perception that mental disorder is strongly associated with violence drives both legal policy (eg, civil commitment) and social practice (eg, stigma) toward people with mental disorders. This study describes and characterizes the prevalence of community violence in a sample of people discharged from acute psychiatric facilities at 3 sites. At one site, a comparison group of other residents in the same neighborhoods was also assessed. METHODS: We enrolled 1136 male and female patients with mental disorders between the ages of 18 and 40 years in a study that monitored violence to others every 10 weeks during their first year after discharge from the hospital. Patient self-reports were augmented by reports from collateral informants and by police and hospital records. The comparison group consisted of 519 people living in the neighborhoods in which the patients resided after hospital discharge. They were interviewed once about violence in the past 10 weeks. RESULTS: There was no significant difference between the prevalence of violence by patients without symptoms of substance abuse and the prevalence of violence by others living in the same neighborhoods who were also without symptoms of substance abuse. Substance abuse symptoms significantly raised the rate of violence in both the patient and the comparison groups, and a higher portion of patients than of others in their neighborhoods reported symptoms of substance abuse. Violence in both patient and comparison groups was most frequently targeted at family members and friends, and most often took place at home. CONCLUSIONS: "Discharged mental patients" do not form a homogeneous group in relation to violence in the community. The prevalence of community violence by people discharged from acute psychiatric facilities varies considerably according to diagnosis and, particularly, co-occurring substance abuse diagnosis or symptoms.

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.

Mutations in the Connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment. We report the identification of a novel point mutation in the Cx26 gene, Leu205Pro(L205P), linked to familial, autosomal recessive sensorineural hearing loss. This missense mutation, causing amino acid leucine at position 205 to be substituted by proline, is located in the highly conserved sequence of the fourth transmembrane domain (TM4) of Cx26. Hearing loss with this mutation occurred in a Georgian Jewish family, was congenital, moderate to profound and nonprogressive. We have shown that the new mutation L205P in Cx26 is strongly associated with congenital NSHL. Multiple-sample screening for this mutation can be easily performed with a mismatch PCR that creates a restriction site.

Use of posttraumatic stress disorder to support an insanity defense.

OBJECTIVE: The authors examine the allegation that the diagnosis of posttraumatic stress disorder (PTSD) is frequently abused in the legal system as the basis for a defense of not guilty by reason of insanity. METHOD: Data for the investigation were drawn from a study of insanity pleas gathered from court records in 49 counties in eight states. Data on the 28 insanity plea defendants for whom PTSD was diagnosed before or immediately after trial were compared with data on 8,135 defendants whose insanity pleas were based on other diagnoses. RESULTS: Insanity pleas by defendants with diagnoses of PTSD constituted only 0.3% of the cases. There were few significant differences between the two groups on demographic variables, psychiatric histories, previous involvement in crime, or current charges. The defendants with PTSD were more likely to have been married, less likely to have been arrested as juveniles, and less likely to have been detained after trial. CONCLUSIONS: Contrary to previously expressed concerns, PTSD was infrequently associated with an insanity defense in the cases in this study. In the cases in which pleas based on PTSD were used, they were no more likely to succeed than pleas based on any other diagnosis. Defendants with PTSD-related insanity defenses differed little from other insanity defendants, contradicting the stereotype of the person who is driven by PTSD to commit crimes. The data do not support fears of widespread misuse of the diagnosis of PTSD in connection with the insanity defense.

Operationalizing a conceptually based noncategorical definition: a first look at US children with chronic conditions.

OBJECTIVE: To apply a conceptually based noncategorical definition in the analysis of a nationally representative sample of US children to determine the prevalence and sociodemographic characteristics of US children with chronic conditions. DESIGN: Data on 30032 children, aged 0 through 17 years, from the 1994 National Health Interview Survey Disability Supplement were analyzed using a noncategorical conceptual definition of chronic conditions and a method that parallels that outlined in the development of the Questionnaire for Identifying Children with Chronic Conditions. We determined the percentages of children with chronic conditions overall and in 3 conceptual domains: (1) functional limitations, (2) dependence on compensatory mechanisms, and (3) service use or need beyond routine care for age. RESULTS: Content that corresponded to 35 of 39 items on the Questionnaire for Identifying Children with Chronic Conditions assessing consequences was available in the National Health Interview Survey Disability Supplement data set. An estimated 10.3 million children (14.8%) had chronic conditions; 7.0% of the children met enrollment criteria in a single conceptual domain, 5.2% in 2 domains, and 2.6% in all 3 domains. Significant sociodemographic correlates of having a chronic condition were being school-aged or older, male, white, living with a responsible adult with less than a college education, and having a family income below the poverty index (all P<.01). CONCLUSIONS: We established the feasibility of operationalizing a noncategorical conceptual definition by using a large-scale data set and provided an estimate of the prevalence of chronic conditions among US children. We confirmed that several sociodemographic correlates of chronic conditions in samples identified through diagnostic checklists were related to the presence of chronic conditions among these children.

Sociodemographic and condition-related characteristics associated with conduct problems in school-aged children with chronic health conditions.

OBJECTIVE: To examine whether sociodemographic and condition-related characteristics are associated with conduct problems in children with chronic health conditions. DESIGN: Cross-sectional survey. PARTICIPANTS: Mothers of children 5 to 8 years old with diverse chronic health conditions who received care at 2 large urban medical centers. MEASURES: Mothers responded to a face-to-face structured interview that included the Eyberg Child Behavior Inventory, the Psychiatric Symptom Index, and questions about sociodemographic and health condition-related characteristics. RESULTS: Of the 356 children assessed, 138 (38.8%) had conduct problems as defined by criteria of the Eyberg Child Behavior Inventory. In logistic regression analyses, conduct problems were associated with younger child age, mother having a husband or partner unrelated to her child, poorer perceived prognosis, child having a learning disability, and maternal self-report of high emotional distress on the Psychiatric Symptom Index. Conduct problems were not related to child sex, maternal ethnicity or education, family receiving welfare, or a wide range of condition-related factors, including age at diagnosis, visibility to others, need to watch for sudden changes, presence of mobility or sensory-communication problems, using medication or equipment, annual hospitalizations, or physician visits. CONCLUSIONS: Conduct problems in children with chronic health conditions appear to be associated more closely with their sociodemographic and family characteristics than with condition-related risk factors. Additional research remains to be done on the ways that maternal adjustment, diagnosis-specific condition characteristics, and other risk factors influence children's behavior.

Ultrasound and hookwire needle placement for localization of a hydrocele of the canal of Nuck.

BACKGROUND: Hydrocele of the canal of Nuck is a mobile mass entity that can be difficult to locate and excise. We report the use of ultrasound scan and a hookwire needle to localize and stabilize this mass, making its excision easier. CASE: A 24-year-old white female presented with a 6-month history of a painful vulvar mass associated with increased discomfort with prolonged standing. Thorough evaluation revealed a suspected hydrocele that was easily palpable in the standing position but not in the lithotomy position. Translabial ultrasonography and a hookwire needle were used to localize and stabilize the mobile vulvar mass, eliminating the need for extensive surgical exploration. CONCLUSION: Ultrasound scanning and needle localization is a useful technique to identify and stabilize a mobile mass, making its surgical excision possible without extensive exploration and trauma.

Relationships of self-esteem and efficacy to psychological distress in mothers of children with chronic physical illnesses.

This study examined relationships of children's illness-related functional limitations and 2 maternal psychological resources, self-esteem and efficacy, to symptoms of psychological distress in 365 urban mothers of 5- to 9-year-old children with diverse chronic illnesses. Multiple regression controlling for sociodemographic variables indicated that presence of functional limitations in the child and lower resources each were associated with higher maternal scores on a psychological symptom scale. Self-esteem had a main effect on maternal distress; however, a significant Efficacy x Functional Status interaction term suggested that mothers experienced greater distress when their children had illness-related functional limitations and maternal efficacy was low. Interventions aimed at enhancing maternal psychological resources may reduce the likelihood of distress in mothers of children with chronic illness.

Potentiation by triorthotolyl phosphate of acrylate ester-induced alterations in respiration.

The purpose of this study was to determine whether triorthotolyl phosphate (TOTP), an inhibitor of carboxylesterases, would enhance the inhibitory effects of acrylate esters on respiration. Respiratory frequency was measured and the calculated decreases in respiratory frequency were used as an index of respiratory irritancy due to acrylate compounds. Tidal volume, minute ventilation, and rectal temperature were also measured. Dose-dependent decreases in frequency were found in rats inhaling methyl acrylate, ethyl acrylate and acrylic acid. Tidal volume was also reduced in rats exposed to acrylate compounds and, as a result, the percentage change in minute ventilation was greater than the percentage change in frequency or tidal volume alone. Pretreatment with TOTP (125 mg/kg) enhanced the decreases in frequency and minute ventilation caused by acrylate esters but not those resulting from exposure to acrylic acid. Exposure to ethyl acrylate and acrylic acid also resulted in dose-dependent reductions in rectal temperature. TOTP potentiated ethyl acrylate-induced decreases in rectal temperature but not those caused by acrylic acid. The results suggest that inhibition of carboxylesterases can result in enhanced irritant action of acrylate esters on the upper respiratory tract, and provide support for a local role of carboxylesterases in the detoxification of these irritant esters.

Ego development and chronic illness in adolescents.

To examine the effects of chronic illness on the psychological growth process known as ego development, scores were compared on the Loevinger Sentence Completion Test for 36 teens (16 boys, 20 girls) with chronic illness and 50 teens (16 boys, 34 girls) without chronic illness. Their ages ranged from 13 to 21 years, with a mean of 17.4 years. Most were Black (37%) or Hispanic (41%) and lived in poor or working-class neighborhoods. When age, sex, and Peabody Picture Vocabulary Test (PPVT) scores were controlled in multiple regression analyses, no direct association between ego development stage and presence of chronic illness, severity of illness, age at onset, or duration of illness was found. Analysis of the chronically ill group alone revealed a significant PPVT X Severity interaction, indicating that ego development in chronically ill teens is lower when illness is more severe and verbal IQ is higher.