Peripheral seventh nerve palsy due to transorbital intracranial penetrating pontine injury

The case of a child injured by a knitting needle penetrating transorbitally and intracranially, resulting in carotid cavernous fistula and pontine injury, is reported. After receiving medical and endovascular treatment, the only remaining abnormal neurological manifestation was right peripheral facial nerve palsy. The clinical sequences of events and the demonstration of a pontine lesion leading to peripheral facial palsy are presented. Facial nuclear injury with a penetrating trauma is an extremely rare condition. It is important to identify the anatomical regions injured in penetrating traumas. The lesions must be identified by computerized tomography, magnetic resonance imaging, clinical and laboratory investigation.     

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.      

Human chorionic gonadotropin assay in cervical secretions for accurate diagnosis of preterm labor.

OBJECTIVES: We planned to determine whether the concentration of human chorionic gonadotropin (hCG) in cervical secretions could be a useful marker for accurate diagnosis of preterm labor, and whether the use of cervical hCG assay in combination with the Bishop score would improve the prediction of delivery within 7 days, and to determine the cut-off values for hCG in prediction of delivery within 100 h, 7 and 14 days, as well as before 35 and 37 weeks of gestation in a group of women at high risk for preterm delivery. METHODS: The study was conducted in the perinatology department of Zeynep Kamil Women and Children Diseases Education and Research Hospital between February 2002 and February 2003. One hundred and two subjects with a diagnosis of threatened preterm labor with intact membranes were included in the study. For hCG measurements, a cotton swab was rolled intracervically for 10 s to absorb fluid. Bishop scores were assessed. The correlation test was employed for the variables influencing hCG values. The ROC curve analysis was used to establish an optimal cut-off concentration for cervical hCG and an optimal cut-off level for Bishop score. The continuous variables were analyzed by the unpaired, independent, two-tailed t-test and categorical data were analyzed by the chi-square test. RESULTS: A significant positive correlation was present between the cervical hCG concentrations and Bishop scores (r=0.72, P<0.0001), and a highly negative correlation between the cervical hCG concentrations and the time interval from sampling time until delivery (r=-0.80, P<0.0001) was detected. The cut-off value for cervical hCG concentration and its sensitivity, specificity, positive and negative predictive values, accuracy, relative risk and likelihood ratio for accurate determination of delivery within 100 h were > or =32 mIU/ml, 98%, 55%, 70%, 96%, 77%, 19.68 and 2.18, respectively. However, these values were > or =32 mIU/ml, 97%, 84%, 89%, 95%, 92%, 17.37 and 6.06, respectively, for prediction of delivery within 7 days; > or =30 mIU/ml, 97%, 79%, 87%, 94%, 89%, 15.15 and 4.62, respectively, for prediction of delivery within 14 days; > or =33 mIU/ml, 89%, 92%, 94%, 83%, 90%, 5.83 and, 11.55, respectively, for prediction of delivery before 35 weeks; and finally > or =27 mIU/ml, 76%, 50%, 85%, 37%, 71%, 1.34 and 1.52, respectively, for prediction of delivery before 37 weeks. CONCLUSIONS: Cervical hCG expression seems to be rewarding in accurate diagnosis of preterm labor. This test has the advantage of low cost and wide availability.     

Cardiac Autonomic Function and Global Left Ventricular Performance in Autoimmune Eauthyroid Chronic Thyroiditis: Is Treatment Necessary at the Euthyroid Stage?

Objective: Autoimmune chronic thyroiditis (ACT) is characterized by lymphocyte infiltration in the thyroid gland and the presence of antithyroid antibodies in serum. Medical treatment does not affect antibody levels and treatment decision is not definite yet for the euthyroid patients. We aimed to evaluate cardiac autonomic function and global left ventricular performance in autoimmune euthyroid chronic thyroiditis and determine the need for medical treatment. Method: We studied 30 ACT patients and 25 healthy control subjects. Cardiac autonomic function is evaluated by heart rate recovery (HRR). Global left ventricular performance is evaluated by two‐dimensional echocardiography and pulsed‐wave tissue Doppler echocardiography. Results: There was no difference between patients and controls with respect to clinical and biochemical parameters except hemoglobin (13.67 ± 1.25 g/dL, 14.51 ± 1.35 g/dL, p:0.047) and low density lipoprotein (120.71 ± 24.91 mg/dL, 100.55 ± 14.73 mg/dL, p: 0.003). Tei index was significantly higher in ACT group (0.521 ± 0.074, 0.434 ± 0.034, P < 0.0001). E′/A′ was found to be significantly lower (1.234 ± 0.42, 1.750 ± 0.291, P < 0.0001) and E/E′ was found to be higher than the controls (8.482 ± 0.449, 6.039 ± 0.209, P < 0.0001). HRR was significantly lower than the controls (20 ± 4 BPM, 30 ± 8 BPM, P < 0.0001). Conclusion: Although left ventricular performance is found to be normal by conventional echocardiographic methods, it is found to be impaired when Tei index and tissue Doppler parameters are used. Cardiac autonomic function is also impaired in ACT patients. As a result of these cardiac changes, medical treatment may be considered earlier, even at the euthyroid stage. (Echocardiography 2011;28:15‐21)     

A Chryseobacterium meningosepticum outbreak observed in 3 clusters involving both neonatal and non-neonatal pediatric patients

Three clusters of Chryseobacterium meningosepticum infections in a tertiary health center in July 2006 and January 2007 involving 8 newborns and 5 older children were investigated. The index patient was from the neonatal intensive care unit, and the older patients were from other pediatric wards. Cultures were obtained from the environment and from health care workers' hands as part of an outbreak investigation. C meningosepticum was isolated from hand cultures obtained from a senior resident and from environmental cultures obtained from powdered infant formula, an electrical button, a computer keyboard, phone, a doorknob, and an Ambu bag. Antibiogram typing and enterobacterial repetitive intergenic consensus sequence polymerase chain reaction indicated that all of the isolates were epidemiologically related. Nine patients improved on antimicrobial treatment, and 4 premature infants died after the infection. C meningosepticum is a well-known etiologic agent for nosocomial infections involving newborns and immunocompromised patients. Wet and dry environmental surfaces and equipment may act as a source or play a role in disseminating the microorganism. Outbreaks may be controlled with strong emphasis on infection control measures.