46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty

We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3/4, partial syndactyly of toes 2/3) and facial but no body asymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wrists and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX/69,XXX mixoploidy suffering from hypothyroidism and precocious puberty.     

Drift hole mobility in strained and unstrained doped Si1-xGex alloys

Results of the drift hole mobility in strained and unstrained SiGe alloys are reported for Ge fractions varying from 0 to 30% and doping levels of 10¹⁵-10¹⁹ cm^-3. The mobilities are calculated taking into account acoustic, optical, alloy, and ionized-impurity scattering. The mobilities are then compared with experimental results for a boron doping concentration of 2×10¹⁹ cm^-3. Good agreement between experimental and theoretical values is obtained. The results show an increase in the mobility relative to that of silicon     

Hepatitis B virus infection, hepatitis B vaccine, and hepatitis B immune globulin

Hepatitis B virus (HBV) infection is a major health problem in the United States; in 1995, approximately 128,000 cases occurred. Transmission of HBV occurs primarily by blood exchange (eg, by shared needles during injection drug use) and by sexual contact. Persons infected early in life are much more likely to become chronically infected than those infected during adulthood: as many as 90% of infants infected perinatally develop chronic infection and up to 25% will die of HBV-related chronic liver disease as adults. Clinical signs of acute hepatitis occur in about 50% of infected adults but in only 5% of infected preschool-aged children. In the United States, hepatitis B vaccine is currently made by recombinant DNA technology using baker's yeast. Preexposure vaccination results in protective antibody levels in almost all infants and children (> 95%) and healthy adults younger than 40 years of age (> 90%). The most common adverse event following administration of hepatitis B vaccine is pain at the injection site, which occurs in 13% to 29% of adult and 3% to 9% of children. A comprehensive hepatitis B vaccination policy is now recommended that includes (1) routine infant vaccination; (2) catch-up vaccination of 11- to 12-year-olds who were not previously vaccinated; (3) catch-up vaccination of young children at high risk for infection; (4) vaccination of adolescents and adults based on lifestyle or environmental, medical, and occupational situations that place them at risk; and (5) prevention of perinatal HBV infection.     

Cortisone-induced osteoporosis: effects on bone adenylate cyclase

The majority of patients with soft tissue or bone sarcomas of the upper extremity can be treated today with limb-saving procedures using combined modality therapies. For patients with a tumor in the shoulder area, sometimes an interscapulothoracic amputation is the only radical surgical treatment. However, in selected cases, in which the tumor does not involve the neurovascular bundle, a limb-sparing alternative might be the Tikhoff-Linberg resection. Normal function of the hand and forearm, with reasonable function of the elbow, can be maintained by this procedure. Four case histories are reported.     

On-demand Virtual Neonatal Intensive Care units supporting rural, remote and urban healthcare with Bush Babies Broadband

Premature and ill term babies born in regional Australia must be moved to another hospital with Neonatal Intensive Care Unit (NICU) facilities. Transferred pre-term and critically ill term babies have higher mortality rates and much higher rates of long term disability than similar babies born in hospitals with NICU facilities. This paper details the Bush Babies Broadband project that aims to significantly improve the quality of treatment for babies born in rural, remote as well as urban areas by providing the first on-demand virtual NICU architecture in Australia. Real-time data collected from medical monitors and ventilators attached to the baby, audiovisual streams and static physiological data such as X-ray images are transmitted to the consulting Neonatologist to gain a better picture of the patient's condition than is currently available. The key contribution of this significant research is the infrastructure providing a mechanism for Neonatologists to receive information directly from a regional hospital, thereby preventing, in some cases, the immediate need to move the baby. A key benefit of this framework is that it is available to link regional hospitals with the supporting NICU Neonatologist ‘on demand’ eliminating the need to establish permanent point to point connections. This paper further describes the application of that architecture to a specific pilot connecting the Bathurst regional hospital with Neonatologists within the NICU at Nepean Hospital, Penrith Australia.     

Biparietal diameter: a useful measure for determining gestational age of human abortuses

BACKGROUND: The crown-rump length is conventionally used to determine the age of human abortuses. However, it is not reliable as it is dependent on the positioning of the conceptus. We compared this with the biparietal diameter and foot length for determining the gestational age. METHODS: Different measurements, commonly used to assess gestational age, were measured in 146 human abortuses for which an accurate obstetric history could not be elicited. Measurements taken were crown-rump length, biparietal diameter and foot length. These were correlated with the observations at antenatal examinations before finalizing the approximate age. RESULTS: Multiple regression analysis of the data indicated that of the three measurements, the biparietal diameter was the most reliable for determining foetal gestational age between 8 and 26 weeks. The age determined with the biparietal diameter correlated well with that of abortuses with an accurate obstetric history. CONCLUSION: The biparietal diameter of a human foetus may be used to determine its age if the obstetric history regarding the period of gestation is vague or not available.