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Healthy Girl (healthy + girl)
Selected AbstractsCarbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosisPRENATAL DIAGNOSIS, Issue 8 2001Tsutomu Aoshima Abstract We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two-color fluorescent (LC-Red 640 and LC-Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild-type alleles. At term a healthy girl was born without hyperammonemia. Copyright © 2001 John Wiley & Sons, Ltd. [source] Adenotonsillectomy as a Treatment Option for Poststreptococcal UveitisTHE LARYNGOSCOPE, Issue 4 2002Alexander Ovchinsky MD Abstract Objectives To report recurrent uveitis as a manifestation of poststreptococcal syndrome and discuss a role of adenotonsillectomy as a treatment option. Study Design Case study. Methods A case report of a 6-year-old, otherwise healthy girl with group A streptococcal uveitis managed successfully with adenotonsillectomy. Results In the year after surgery there were only two episodes of uveitis, contrasted with a preoperative 3-year history of 8 to 10 annual episodes despite corticosteroid therapy. Moreover, as a result of the postoperative improvement the child was able to avoid impending methotrexate therapy. Conclusions Although the role of tonsillectomy in managing poststreptococcal uveitis is unknown, our results suggest a positive impact independent of the baseline tonsillitis frequency. Otolaryngologists should be aware of these uncommon sequelae of streptococcal infection and the potential role of tonsillectomy in treatment. [source] Nonbacterial purpura fulminans and severe autoimmune acquired protein S deficiency associated with human herpesvirus-6 active replicationBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2009O. Boccara Summary Nonbacterial purpura fulminans (PF) is rare, usually follows viral infection in young children, and is characterized by specific coagulation disorders, requiring specific therapy. Following a transient rash, a 2-year-old previously healthy girl developed PF without haemodynamic impairment. Laboratory data revealed disseminated intravascular coagulation and a severe transient protein S deficiency. Antiprotein S autoantibodies and active human herpesvirus-6 (HHV6) replication were demonstrated. Purpuric skin lesions spread very rapidly despite broad-spectrum antibiotics and right leg amputation. Plasmapheresis and intravenous immunoglobulins gave complete clinical recovery and normalization of protein S level within 10 days, with progressive clearance of antiprotein S autoantibodies. Transient severe protein S deficiencies have previously been reported in patients with nonbacterial PF, usually after varicella infection. This is the first documented case of PF after HHV6 infection. [source] Bone and Muscle Development During Puberty in Girls: A Seven-Year Longitudinal Study,,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 10 2009Leiting Xu Abstract The growth of lean mass precedes that of bone mass, suggesting that muscle plays an important role in the growth of bone. However, to date, no study has directly followed the growth of bone and muscle size through puberty and into adulthood. This study aimed to test the hypothesis that the growth of muscle size precedes that of bone size (width and length) and mass during puberty. Bone and muscle properties were measured using pQCT and DXA in 258 healthy girls at baseline (mean age, 11.2 yr) and 1-, 2-, 3,4- and 7-yr follow-up. Growth trends as a function of time relative to menarche were determined from prepuberty to early adulthood for tibial length (TL), total cross-sectional area (tCSA), cortical CSA (cCSA), total BMC (tBMC), cortical volumetric BMD (cBMD), and muscle CSA (mCSA) in hierarchical models. The timings of the peak growth velocities for these variables were calculated. Seventy premenopausal adults, comprising a subset of the girl's mothers (mean age, 41.5 yr), were included for comparative purposes. In contrast to our hypothesis, the growth velocity of mCSA peaked 1 yr later than that of tibial outer dimensions (TL and tCSA) and slightly earlier than tBMC. Whereas TL ceased to increase 2 yr after menarche, tCSA, cCSA, tBMC, and mCSA continued to increase and were still significantly lower than adult values at the age of 18 yr (all p < 0.01). The results do not support the view that muscle force drives the growth of bone size during puberty. [source] Measurement of development of cognitive and attention functions in children using continuous performance testPSYCHIATRY AND CLINICAL NEUROSCIENCES, Issue 2 2008Noriko Kanaka ba Aim:, The development of attention function in children is still not sufficiently clear. Although it is difficult to objectively assess attention function, continuous performance tests (CPT) can be used to objectively assess cognitive function along with attention. The development of cognitive and attention functions was examined in children using a CPT. Methods:, A total of 541 healthy girls aged 5,12 years participated. Ten parameters were calculated: numbers of cancellations for either target stimuli (T-cancel) or non-target stimuli (N-cancel), numbers of omission errors (Omission) and commission errors (Commission), hit rate (Hit), false alarm rate (False), mean reaction time for correct response (RT), coefficient of variance for mean reaction time (CVRT), sensitivity index (d,), and ln,. Results:, The parameters were divided into three types based on pattern of change. T-cancel, False, and Commission, which are related to inhibition of response, N-cancel, Hit, and Omission, which are related to inattention to stimuli, and CVRT, which is related to stability of processing time, exhibited significant change until 5 or 6 years of age. d,, which is related to ability to discriminate between target or non-target, exhibited significant change until 8 years of age. RT, which is related to processing time, exhibited significant change until 11 years of age. ln, exhibited no significant differences among age groups. Conclusions:, These findings indicate that inhibition function, inattention to stimuli, and stability of processing time develop first. Discrimination ability subsequently increases based on these developments, and finally processing time is reduced. [source] Change in leptin, body composition and other hormones around menarche , a visual representationACTA PAEDIATRICA, Issue 10 2008LG Bandini Abstract Aim: To present a visual representation of changes in body composition, leptin, insulin, estradiol and follicular stimulating hormone (FSH) levels in relation to menarche in girls. Methods: Participants were a subset of healthy girls (n = 108) enrolled in a longitudinal study of growth and development conducted at the General Clinical Research Center at the Massachusetts Institute of Technology (MIT). Participants were seen annually from before menarche until 4 years postmenarche for measures of body composition and serum levels of leptin, insulin, estradiol and FSH. Body composition was determined by bioelectrical impedance. Standardized body composition and hormone levels were smoothed and plotted relative to menarche to visualize patterns of change. Results: At menarche, the mean percentage body fat (%BF) of girls was 24.6% (SD = 4.1%) after menarche %BF was ,27%. Leptin levels averaged 8.4 ng/mL (SD = 4.6) at menarche and were ,12 ng/mL after menarche. Changes in leptin levels closely paralleled changes in %BF. Insulin, estradiol and FSH levels followed expected patterns relative to menarche. Leptin began rising closer to menarche than did insulin or the other sex hormones. Conclusion: We provide a visual presentation of hormonal and body composition changes occurring throughout the pubertal period in girls which may be useful in generating new hypotheses related to the timing of menarche. [source] | ||||||||||