BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects.

Differential phosphorylation of tau proteins during kitten brain development and Alzheimer's disease.

Differential distribution and phosphorylation of tau proteins were studied in developing kitten brain by using several antibodies, and was compared to phosphorylation in Alzheimer's disease. Several antibodies demonstrated the presence of phosphorylated tau proteins during kitten brain development and identified pathological structures in human brain tissue. Antibody AD2, recognized tau in kittens and adult cats, but reacted in Alzheimer's tissue only with a pathological tau form. Antibody AT8 was prominent in developing kitten neurons and was found in axons and dendrites. After the first postnatal month this phosphorylation type disappeared from axons. Furthermore, dephosphorylation of kitten tau with alkaline phosphatase abolished immunoreactivity of AT8, but not that of AD2, pointing to a protection of the AD2 epitope in cats. Tau proteins during early cat brain development are phosphorylated at several sites that are also phosphorylated in paired helical filaments during Alzheimer's disease. In either event, phosphorylation of tau may play a crucial role to modulate microtubule dynamics, contributing to increased microtubule instability and promoting growth of processes during neuronal development or changing dynamic properties of the cytoskeleton and contributing to the formation of pathological structures in neurodegenerative diseases.

Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.

Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.

Energy balance, physical activity, and thermogenic effect of feeding in premature infants.

In order to assess the contribution of the thermogenic effect of feeding and muscular activity to total energy expenditure, nine premature infants were studied for 2 consecutive days during which time repeated measurements of energy expenditure by indirect calorimetry were performed throughout the day, combined with a visual activity score based on body movement. The infants were growing at 16.6 +/- 4.0 g/kg/day (mean +/- SD) and received 110 +/- 8 kcal/kg/day metabolizable energy (milk formula) and 522 +/- 40 mgN/kg/day. Their total energy expenditure was 68 +/- 4 kcal/kg/day indicating that 41 +/- 7 kcal/kg/day was retained for growth. Based on the combination of energy + N balances it was estimated that 80% of the weight gain was fat-free tissue and 20% was fat tissue. The rate of energy expenditure measured minute-by-minute was significantly and linearly correlated with the activity score in both the premeal (r = 0.75;p less than 0.001) and the postmeal periods (r = 0.74; p less than 0.001) with no difference in the regression slope, but with a significant difference in intercept. In preset feeding schedules the latter allowed an estimation of the thermogenic effect without the confounding effect of activity. This was found to be 3.1 +/- 1.8% when expressed as a percentage of metabolizable energy intake. However when the "classical" approach was used as a comparison (integration of extra energy expenditure induced by the meal), the thermogenic effect was found to be greater, i.e. 9.5 +/- 3.8% of the meal's metabolizable energy, due to the superimposed effect of physical activity in the postprandial state.(ABSTRACT TRUNCATED AT 250 WORDS)

Iowa EHDI News, Fall 2009

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Fall 2010

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Fall 2011

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Spring 2010

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Spring 2011

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Summer 2009

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Summer 2010

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Summer 2011

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Winter 2009

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee

Iowa EHDI News, Winter 2010

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening and follow up in Iowa. We will share information about: Hearing screenings Early intervention, including communication opportunities Resources available for parents and professionals “Best practices” by hospitals, Area Education Agencies (AEAs), private practice audiology offi ces or other health and education providers working with children who are deaf or hard of hearing National research Iowa EHDI program goals EHDI program progress, system development, evaluation Family stories Highlights from the EHDI Advisory Committee