Hereditary osteo-onychodysplasia or nail-patella syndrome: description of one case and literature review

Abstract  Hereditary osteoonychodysplasia (HOOD) or nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by abnormal nail development and growth with hypoplastic highriding or absent patellae. Congenital dislocation of the radial head and bony deformities particularly around the pelvis (iliac horns) are also features. Occasionally renal dysfunction and proteinuria may be present. We report a case of nail-patella syndrome and review the literature of this rare hereditary condition.     

De novo discovery of a tissue-specific gene regulatory module in a chordate

We engage the experimental and computational challenges of de novo regulatory module discovery in a complex and largely unstudied metazoan genome. Our analysis is based on the comprehensive characterization of regulatory elements of 20 muscle genes in the chordate, Ciona savignyi. Three independent types of data we generate contribute to the characterization of a muscle-specific regulatory module: (1) Positive elements (PEs), short sequences sufficient for strong muscle expression that are identified in a high-resolution in vivo analysis; (2) CisModules (CMs), candidate regulatory modules defined by clusters of overrepresented motifs predicted de novo; and (3) Conserved elements (CEs), short noncoding sequences of strong conservation between C. savignyi and C. intestinalis. We estimate the accuracy of the computational predictions by an analysis of the intersection of these data. As final biological validation of the discovered muscle regulatory module, we implement a novel algorithm to search the genome for instances of the module and identify seven novel enhancers.     

Advanced paternal age associated with an elevated risk for schizophrenia in offspring in a Japanese population

OBJECTIVE: Advanced paternal age at birth as a risk for schizophrenia in the adult offspring has been reported in previous studies exclusively conducted in Western countries and Israel. The question has arisen whether this finding could be replicated in countries with socially and culturally different attitudes toward marriage, including factors such as age at marriage. To address this question, we conducted a case-control study of a Japanese population. METHODS: The subjects were representative inpatients with a DSM-IV diagnosis of schizophrenia. Unrelated healthy volunteers were recruited as control subjects. This study was conducted as one of a series of the projects by use of "The Mother and Child Health Handbooks (MCHHs)," from which information on parental characteristics around the time of birth, including parental ages at birth, had been extracted and recorded on computer. RESULTS: Ninety-nine subjects with schizophrenia and 381 healthy control subjects enrolled for the study. Advanced paternal, but not maternal, age was associated with an elevated risk for schizophrenia. Reproducibility of the association across different cultures is suggestive of a causal link.     

Augmentation of milnacipran by risperidone in treatment for major depression

Milnacipran, one of the serotonin noradrenaline reuptake inhibitors (SNRIs) to which venlafaxine and duloxetine belong, is a new antidepressant that has recently become available in many countries. Despite the advances in pharmacotherapy, almost one third of patients with depressive illness respond inadequately to monotherapy with such an antidepressant. We herein describe five patients with major depression who responded partially, but not fully, to milnacipran alone and remarkably improved with an adjunct of risperidone. In addition, milnacipran plus risperidone was found to be a useful augmentation for treatment-refractory depression in 3 of the 5 patients. The minimum dose of risperidone, 0.5 or 1 mg/d, was efficacious. The time of response after addition of risperidone was within 4 d. Our experience suggests that an augmentation therapy of milnacipran plus risperidone is useful for treating patients with depression who only partially respond to various types of antidepressants and for treatment-refractory depression.     

The effect of maternal milk on neonatal morbidity of very low-birth-weight infants

OBJECTIVE: To examine the dose effect of maternal milk on neonatal morbidity of very low-birth-weight (<1.5 kg) infants. DESIGN: Prospective observational study. SETTING: An urban tertiary care neonatal intensive care unit and follow-up clinic. POPULATION: One hundred nineteen singleton very low-birth-weight infants admitted from January 1, 1997, to February 14, 1999 (mean birth weight, 1056 g; mean gestational age, 28 weeks; 57% male; and 43% white). METHODS: A comparison of the effect on neonatal outcomes of daily graded doses (1-24, 25-49, and > or = 50 mL/kg of body weight) of maternal milk through week 4 of life vs a reference group receiving no maternal milk. MAIN OUTCOME MEASURES: Neonatal outcomes examined included rates of sepsis after age 5 days, retinopathy of prematurity, chronic lung disease, necrotizing enterocolitis, jaundice, duration of ventilator dependence, and length of hospital stay. RESULTS: Seventy-nine infants (66%) received maternal milk, of whom 32 received at least 50 mL/kg per day through week 4 of life. Poisson regression analysis adjusting for birth weight, sex, and ethnicity revealed that the mean number of episodes of sepsis for infants receiving at least 50 mL/kg per day was lower by a factor of 0.27 (95% confidence interval, 0.08-0.95) compared with infants receiving no maternal milk. There was no effect of maternal milk on other neonatal outcomes. CONCLUSIONS: A daily threshold amount of at least 50 mL/kg of maternal milk through week 4 of life is needed to decrease the rate of sepsis in very low-birth-weight infants, but maternal milk does not affect other neonatal morbidities.     

Parent-adolescent interactions after traumatic brain injury: their relationship to family adaptation and adolescent adjustment

OBJECTIVE: To examine changes in parent-adolescent interactions after traumatic brain injury (TBI) and their relationship to parent and adolescent adjustment. DESIGN: Concurrent cohort, cross-sectional study. Analysis of variance was used to examine group differences and regression analysis to assess associations between interactional measures and concurrent adjustment. SETTING: Four hospitals in north-central Ohio. PARTICIPANTS: Adolescents with severe TBI (25), moderate TBI (22), and orthopedic injuries (35) and their parents. MAIN OUTCOME MEASURES: Observer ratings of parent-adolescent interactions, Conflict Behavior Questionnaire (CBQ), Family Burden of Injury Interview (FBII), Brief Symptom Inventory (BSI), Family Assessment Device (FAD), Child Behavior Checklist, Vineland Adaptive Behavior Scale, and Children's Depression Inventory. RESULTS: No group differences were found on ratings of parent-adolescent interaction or the parent or child CBQ. However, observed criticism/coldness and self-rated conflict had stronger associations with the FBII, BSI, and FAD in the severe TBI group than in the orthopedic injury group, suggesting that conflict is more disruptive after TBI. Ratings of criticism/coldness and parent and adolescent CBQ scores were also associated with parent and adolescent adjustment. CONCLUSIONS: Results support the utility of observational measures in assessing dyadic interactions after TBI.