Ophthalmologic findings in cerebrofaciothoracic dysplasia

We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant mental retardation. Both affected individuals are members of the same family and have epicanthal folds and hypertelorism. In addition, one patient has bilateral bull's eye maculopathy, which may represent an additional severe manifestation of cerebrofaciothoracic dysplasia syndrome.     

Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy

Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (WBS). However, growth hormone deficiency (GHD) has not been considered a major cause of growth retardation. There is only one patient in the literature with confirmed GHD who responded well to human growth hormone (hGH) therapy. We report a female infant with confirmed WBS who, through provocative testing, was found to have GHD and who responded satisfactorily to hGH therapy. Height SDS was -4.2 at the age of 12 months when hGH was initiated and increased to -0.8 at the age of 4.25 years. The pathogenesis of GHD in our patient is unclear. Nevertheless, the elevated levels of prolactin and the response of hGH to growth hormone releasing hormone (GHRH) administration are indicative of a hypothalamic rather than pituitary defect. In conclusion, GH deficiency might contribute to the growth failure in a number of patients with WBS and in such cases hGH therapy will most likely improve final height.     

Short communication: HIV type 2 dynamics

To gain a better understanding of why HIV-2 is less virulent than HIV-1 the viral dynamics of HIV-2 were studied in two Swedish HIV-2-infected patients after starting antiretroviral therapy. Linear regression analysis of log virus levels in plasma showed that virus decline during the first 2 weeks of therapy followed an exponential decay with half-lives of 2.2 and 2.0 days, respectively. These half-life measurements reflect the decline in the number of cells actively producing the virus, but may represent an underestimation of the true turnover of HIV-2. In one patient, preliminary estimates of the first and second phase of virus decline (halflife 1.3 and 15 days, respectively) were made. The viral dynamics of HIV-2 infection are strikingly similar to those for HIV-1. Thus, HIV-1 and HIV-2 appear to have similar rates of production and clearance in vivo. Consequently, the large differences in plasma virus levels, virulence, and natural course of the disease between the two infections are due to other factors that are yet to be identified.     

Non-word repetition and non-word discrimination in Swedish preschool children

By looking at data on expressive phonology, non-word repetition, non-word discrimination and phonological sensitivity in two groups of Swedish children, the common basis for tasks tapping into different levels of phonological processing is discussed. Two studies were performed, one including children with language impairment (LI) and one including children with normal language development (NL). A discrimination task consisting of non-word pairs differing in one phoneme was developed. In both groups there was a significant correlation between non-word repetition and phoneme identification. In children with LI phoneme identification was significantly correlated with expressive phonology. In children with NL non-word repetition correlated significantly with non-word discrimination, which was linked both to rhyme recognition and phoneme identification. Non-word discrimination might be equally useful as non-word repetition as an early screening tool and would circumvent the confounding factor of an expressive phonological impairment as well as decrease the amount of complicating factors involved in scoring procedures.     

Pediatric stroke: what do we know and what do we need to know?

Stroke is a heterogeneous disorder and an important cause of mortality and chronic morbidity in children. Estimates of international incidence rates for childhood stroke have varied widely. Arterial ischemic stroke is reported to be more common than hemorrhagic stroke in children. The clinical presentation of stroke in children differs according to the child's age and stroke type and location. Several risk factors for ischemic and hemorrhagic stroke in children have been reported and include cardiac disorders, blood disorders, vasculopathies, viral infections, and arteriovenous malformations. Current treatment recommendations for stroke in children are based on small nonrandomized trials, adult stroke studies, case series, or consensus or individual expert opinion. Over half of children with stroke will develop lifelong cognitive or motor disability, and up to a third will have a recurrent stroke. International studies have provided important information on stroke in children, but major gaps in our knowledge of the disorder still exist. Currently, there is a need for prospective cohort studies in diverse populations, which utilize a consensus pediatric stroke classification system and a standard evaluation of risk factors and outcome, so that treatment and prevention strategies can be developed.     

Dexamethasone suppression test in borderline personality disorder--effects of posttraumatic stress disorder

BACKGROUND: Divergent findings of hypothalamic-pituitary-adrenal (HPA) axis functioning in borderline personality disorder (BPD) may be caused by a different degree of comorbid posttraumatic stress disorder (PTSD), in which alterations of the HPA axis are well known. Here we investigate alterations of the HPA axis in BPD patients with and without comorbid PTSD compared to healthy controls. Considering previous findings current major depression (MDD) was taken into account as a confounding variable. METHODS: Apart from clinical assessment the 0.5 mg dexamethasone suppression test (DST) was performed in 21 female borderline patients and 23 healthy controls. RESULTS: Twelve BPD patients suffered from comorbid PTSD. Relative suppression (%) did not differ between healthy controls and the total BPD group, but BPD patients with comorbid PTSD showed increased suppression compared to those without. Comorbid MDD was not associated with suppression. CONCLUSIONS: Our results do not indicate a dysfunction of the HPA axis in BPD. However, comorbid PTSD seems to be associated with a relative hypersuppression in the 0.5 mg DST.     

Amphiphysin autoimmunity: paraneoplastic accompaniments

Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and non-small cell [1]), breast [16] and melanoma [2]). Neurological accompaniments included (decreasing frequency): neuropathy, encephalopathy, myelopathy, stiff-man phenomena, and cerebellar syndrome. In a case examined neuropathologically, parenchymal T-lymphocyte infiltration (predominantly CD8(+)) was prominent in lower brainstem, spinal cord, and dorsal root ganglion. Coexisting paraneoplastic autoantibodies, identified in 74% of patients, predicted a common neoplasm and indicated other neuronal autoantigen targets that plausibly explained several neurological manifestations; for example, P/Q-type Ca(2+)-channel antibody with Lambert-Eaton syndrome (n = 5), anti-neuronal nuclear antibody type 1 with sensory neuronopathy (n = 7), K(+)-channel antibody with limbic encephalitis (n = 1) or neuromyotonia (n = 1), and collapsin response-mediator protein-5-IgG with optic neuritis (n = 3). Patients with isolated amphiphysin-IgG (n = 19) were more likely to be women (with breast cancer, p < 0.05) and to have myelopathy or stiff-man phenomena (p < 0.01). Overall, a minority of women (39%) and men (12%) had stiff-man phenomena. Only 10% of women (some with lung carcinoma) and 4% of men fulfilled diagnostic criteria for stiff-man syndrome.     

Posttraumatic stress and depressive reactions among children and adolescents after the 1999 earthquake in Ano Liosia, Greece

OBJECTIVE: This study evaluated the severity of posttraumatic stress and depressive reactions among children and adolescents 3 months after the 1999 earthquake in Ano Liosia, Greece, and additionally assessed the relationship of these reactions to objective and subjective features of earthquake exposure, sex, school level, postearthquake difficulties, death of a family member, and thoughts of revenge. METHOD: This school-based study of 1,937 students was conducted in two differentially exposed cities (Ano Liosia, at the epicenter, and Dafni, 10 kilometers from the epicenter) with an earthquake exposure questionnaire, the UCLA Posttraumatic Stress Disorder (PTSD) Reaction Index, and the Depression Self-Rating Scale. RESULTS: Endorsement of earthquake-related exposure items between the two cities was congruent with the extent of earthquake impact in each city. Median PTSD Reaction Index scores were significantly higher in Ano Liosia. The estimated rates of PTSD and clinical depression for both cities combined were 4.5% and 13.9%, respectively. Depression, subjective and objective earthquake-related experiences, and difficulties at home accounted for 41% of the variance in severity of PTSD reactions. PTSD score was the single most powerful variable predicting depression (36% of the variance), with only sex making a small but significant additional contribution. CONCLUSIONS: This study demonstrated the feasibility of conducting large-scale school-based postdisaster mental health screening for planning intervention strategies. The present findings regarding PTSD and depression indicate the need to provide targeted specialized postdisaster mental health services to subgroups with significant levels of posttraumatic stress and depressive reactions after an earthquake of moderate intensity.     

Social adversity in childhood and the risk of developing psychosis: a national cohort study

OBJECTIVE: There is conflicting evidence concerning the association of social childhood factors and subsequent psychosis. Previous studies have had inadequate designs. The aim of the present study was to describe a broad range of social factors during childhood and the risk of developing psychosis later in life in a national cohort. METHOD: The study population consisted of all children born in Sweden in 1963-1983-2.1 million persons-in family households participating in the national census of 1970, 1980, 1985, or 1990. Hazard ratios were estimated for five different indicators of socioeconomic position (living in rented apartments, low socioeconomic status, single-parent households, unemployment, and households receiving social welfare benefits) from hospital admissions for schizophrenia and other psychoses during 1987-2002. RESULTS: Increased age- and sex-adjusted hazard ratios for schizophrenia and other psychoses were found for all childhood socioeconomic indicators, ranking from lowest to highest hazard ratio: rented apartments, low socioeconomic status, single-parent households, unemployment, and households receiving social welfare benefits. Hazard ratios increased with an increasing number of adverse social factors present. Those with four measures of adversity had a 2.7-fold higher risk of schizophrenia than those with none. CONCLUSIONS: The results indicate that social adversity in childhood and fetal life is independently associated with the risk of developing schizophrenia and other psychoses later in life. The risks increased with an increasing number of exposures, suggesting a dose-response relationship.